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Diabetes mellitus, often known simply as diabetes, is a group of common endocrine diseases characterized by sustained high blood sugar levels. Diabetes is due to either the pancreas not producing enough insulin, or the cells of the body becoming unresponsive to the hormone's effects. Classic symptoms include thirst, polyuria, weight loss, and blurred vision. If left untreated, the disease can lead to various health complications, including disorders of the cardiovascular system, eye, kidney, and nerves. Diabetes accounts for approximately 4.2 million deaths every year, with an estimated 1.5 million caused by either untreated or poorly treated diabetes. The major types of diabetes are type 1 and type 2. The most common treatment for type 1 is insulin replacement therapy, while anti-diabetic medications and lifestyle modifications can be used to manage type 2. Gestational diabetes, a form that arises during pregnancy in some women, normally resolves shortly after delivery. As of 2021, an estimated 537 million people had diabetes worldwide accounting for 10.5% of the adult population, with type 2 making up about 90% of all cases. The World Health Organization has reported that diabetes was "among the top 10 causes of death in 2021, following a significant percentage increase of 95% since 2000." It is estimated that by 2045, approximately 783 million adults, or 1 in 8, will be living with diabetes, representing a 46% increase from the current figures. The prevalence of the disease continues to increase, most dramatically in low- and middle-income nations. Rates are similar in women and men, with diabetes being the seventh leading cause of death globally. The global expenditure on diabetes-related healthcare is an estimated US$760 billion a year.
Group of endocrine diseases characterized by high blood sugar levels |
The 1918–1920 flu pandemic, also known as the Great Influenza epidemic or by the common misnomer Spanish flu, was an exceptionally deadly global influenza pandemic caused by the H1N1 subtype of the influenza A virus. The earliest documented case was March 1918 in the state of Kansas in the United States, with further cases recorded in France, Germany and the United Kingdom in April. Two years later, nearly a third of the global population, or an estimated 500 million people, had been infected in four successive waves. Estimates of deaths range from 17 million to 50 million, and possibly as high as 100 million, making it one of the deadliest pandemics in history. The pandemic broke out near the end of World War I, when wartime censors in the belligerent countries suppressed bad news to maintain morale, but newspapers freely reported the outbreak in neutral Spain, creating a false impression of Spain as the epicenter and leading to the "Spanish flu" misnomer. Limited historical epidemiological data make the pandemic's geographic origin indeterminate, with competing hypotheses on the initial spread. Most influenza outbreaks disproportionately kill the young and old, with a higher survival rate in-between, but this pandemic had unusually high mortality for young adults. Scientists offer several explanations for the high mortality, including a six-year climate anomaly affecting migration of disease vectors with increased likelihood of spread through bodies of water. However, the claim that young adults had a high mortality during the pandemic has been contested. Malnourishment, overcrowded medical camps and hospitals, and poor hygiene, exacerbated by the war, promoted bacterial superinfection, killing most of the victims after a typically prolonged death bed. The 1918 Spanish flu was the first of three flu pandemics caused by H1N1 influenza A virus; the others being the 1977 Russian flu and the 2009 Swine flu pandemics.
1918–1920 global influenza pandemic caused by the H1N1 influenza A virus |
Adenocarcinoma is a type of cancerous tumor that can occur in several parts of the body. It is defined as neoplasia of epithelial tissue that has glandular origin, glandular characteristics, or both. Adenocarcinomas are part of the larger grouping of carcinomas, but are also sometimes called by more precise terms omitting the word, where these exist. Thus invasive ductal carcinoma, the most common form of breast cancer, is adenocarcinoma but does not use the term in its name—however, esophageal adenocarcinoma does to distinguish it from the other common type of esophageal cancer, esophageal squamous cell carcinoma. Several of the most common forms of cancer are adenocarcinomas, and the various sorts of adenocarcinoma vary greatly in all their aspects, so that few useful generalizations can be made about them. In the most specific usage, the glandular origin or traits are exocrine; endocrine gland tumors, such as a VIPoma, an insulinoma, or a pheochromocytoma, are typically not referred to as adenocarcinomas but rather are often called neuroendocrine tumors. Epithelial tissue sometimes includes, but is not limited to, the surface layer of skin, glands, and a variety of other tissue that lines the cavities and organs of the body. Epithelial tissue can be derived embryologically from any of the germ layers. To be classified as adenocarcinoma, the cells do not necessarily need to be part of a gland, as long as they have secretory properties. Adenocarcinoma is the malignant counterpart to adenoma, which is the benign form of such tumors. Sometimes adenomas transform into adenocarcinomas, but most do not. Well-differentiated adenocarcinomas tend to resemble the glandular tissue that they are derived from, while poorly differentiated adenocarcinomas may not. By staining the cells from a biopsy, a pathologist can determine whether the tumor is an adenocarcinoma or some other type of cancer. Adenocarcinomas can arise in many tissues of the body owing to the ubiquitous nature of glands within the body, and, more fundamentally, to the potency of epithelial cells. While each gland may not be secreting the same substance, as long as there is an exocrine function to the cell, it is considered glandular and its malignant form is therefore named adenocarcinoma.
Medical condition |
Tularemia, also known as rabbit fever, is an infectious disease caused by the bacterium Francisella tularensis. Symptoms may include fever, skin ulcers, and enlarged lymph nodes. Occasionally, a form that results in pneumonia or a throat infection may occur. The bacterium is typically spread by ticks, deer flies, or contact with infected animals. It may also be spread by drinking contaminated water or breathing in contaminated dust. It does not spread directly between people. Diagnosis is by blood tests or cultures of the infected site. Prevention is by using insect repellent, wearing long pants, rapidly removing ticks, and not disturbing dead animals. Treatment is typically with the antibiotic streptomycin. Gentamicin, doxycycline, or ciprofloxacin may also be used. Between the 1970s and 2015, around 200 cases were reported in the United States a year. Males are affected more often than females. It occurs most frequently in the young and the middle aged. In the United States, most cases occur in the summer. The disease is named after Tulare County, California, where the disease was discovered in 1911. A number of other animals, such as rabbits, may also be infected.
Infectious disease caused by the bacterium Francisella tularensis |
Baggio–Yoshinari syndrome, formerly known as the Brazilian Lyme-like disease and Brazilian human borreliosis, is a disease transmitted by the bites of Amblyomma and Rhipicephalus genera ticks, but the organism that causes the infection is a distinct variant of the bacteria that causes Lyme with different markers that cannot be reliably detected by the standard North American tests. Clinical features resemble those of Lyme disease (LD) but have distinctive differences.
Medical condition |
Stevens–Johnson syndrome (SJS) is a type of severe skin reaction. Together with toxic epidermal necrolysis (TEN) and Stevens–Johnson/toxic epidermal necrolysis (SJS/TEN) overlap, they are considered febrile mucocutaneous drug reactions and probably part of the same spectrum of disease, with SJS being less severe. Erythema multiforme (EM) is generally considered a separate condition. Early symptoms of SJS include fever and flu-like symptoms. A few days later, the skin begins to blister and peel, forming painful raw areas. Mucous membranes, such as the mouth, are also typically involved. Complications include dehydration, sepsis, pneumonia and multiple organ failure. The most common cause is certain medications such as lamotrigine, carbamazepine, allopurinol, sulfonamide antibiotics and nevirapine. Other causes can include infections such as Mycoplasma pneumoniae and cytomegalovirus, or the cause may remain unknown. Risk factors include HIV/AIDS and systemic lupus erythematosus. The diagnosis of Stevens–Johnson syndrome is based on involvement of less than 10% of the skin. It is known as TEN when more than 30% of the skin is involved and considered an intermediate form when 10–30% is involved. SJS/TEN reactions are believed to follow a type IV hypersensitivity mechanism. It is also included with drug reaction with eosinophilia and systemic symptoms, acute generalized exanthematous pustulosis (AGEP) and toxic epidermal necrolysis in a group of conditions known as severe cutaneous adverse reactions (SCARs). Treatment typically takes place in hospital such as in a burn unit or intensive care unit. Efforts may include stopping the cause, pain medication, antihistamines, antibiotics, intravenous immunoglobulins or corticosteroids. Together with TEN, SJS affects 1 to 2 people per million per year. Typical onset is under the age of 30. Skin usually regrows over two to three weeks; however, complete recovery can take months. Overall, the risk of death with SJS is 5 to 10%.
Skin disease |
Pretibial myxedema is an infiltrative dermopathy, resulting as a rare complication of Graves' disease, with an incidence rate of about 1–5%.
Medical condition |
A premature ventricular contraction (PVC) is a common event where the heartbeat is initiated by Purkinje fibers in the ventricles rather than by the sinoatrial node. PVCs may cause no symptoms or may be perceived as a "skipped beat" or felt as palpitations in the chest. PVCs do not usually pose any danger. The electrical events of the heart detected by the electrocardiogram (ECG) allow a PVC to be easily distinguished from a normal heart beat. However, very frequent PVCs can be symptomatic of an underlying heart condition. Furthermore, very frequent PVCs are considered a risk factor for arrhythmia-induced cardiomyopathy, in which the heart muscle becomes less effective and symptoms of heart failure may develop. Ultrasound of the heart is therefore recommended in people with frequent PVCs. If PVCs are frequent or troublesome, medication may be used. Very frequent PVCs in people with dilated cardiomyopathy may be treated with radiofrequency ablation.
Skipped beat with ventricular origin |
Elranatamab, sold under the brand name Elrexfio, is a medication used for the treatment of multiple myeloma. Elranatamab is a bispecific B-cell maturation antigen (BCMA)-directed CD3 T-cell engager. Elranatamab is given by subcutaneous injection. The most common side effects include cytokine release syndrome, fatigue, injection site reaction, diarrhea, upper respiratory tract infection, musculoskeletal pain, pneumonia, decreased appetite, rash, cough, nausea, and pyrexia (fever). Elranatamab was approved for medical use in the United States in August 2023, in the European Union in December 2023, and in Canada in December 2023.
Medication |
Brain abscess is an abscess within the brain tissue caused by inflammation and collection of infected material coming from local or remote infectious sources. The infection may also be introduced through a skull fracture following a head trauma or surgical procedures. Brain abscess is usually associated with congenital heart disease in young children. It may occur at any age but is most frequent in the third decade of life.
Medical condition |
White sponge nevus (WSN) is an autosomal dominant condition of the oral mucosa. It is caused by one or more mutations in genes coding for keratin, which causes a defect in the normal process of keratinization of the mucosa. This results in lesions which are thick, white and velvety on the inside of the cheeks within the mouth. Usually, these lesions are present from birth or develop during childhood. The condition is benign and usually requires no treatment. WSN can, however, predispose affected individuals to over-growth/imbalance of the oral microbiota, which may require antibiotic and/or antifungal treatment.
Benign lesions on the insides of the cheeks |
Levodopa/benserazide, sold under the brand name Prolopa among others, is a fixed-dose combination medication used for the treatment of Parkinson's disease.
Medication |
Tranylcypromine, sold under the brand name Parnate among others, is a monoamine oxidase inhibitor (MAOI). More specifically, tranylcypromine acts as nonselective and irreversible inhibitor of the enzyme monoamine oxidase (MAO). It is used as an antidepressant and anxiolytic agent in the clinical treatment of mood and anxiety disorders, respectively. It is also effective in the treatment of ADHD. Tranylcypromine is also known as trans-2-phenylcyclopropyl-1-amine and is formed pro forma from the cyclization of amphetamine's isopropylamine side chain. As a result, it is classified structurally as a substituted phenethylamine and amphetamine.
Irreversible non-selective MAO inhibitor Antidepressant drug |
Hypersomatotropism, also known as acromegaly, is an endocrine disorder caused by excessive growth hormone production in cats and dogs.
Medical condition |
Lymphedema, also known as lymphoedema and lymphatic edema, is a condition of localized swelling caused by a compromised lymphatic system. The lymphatic system functions as a critical portion of the body's immune system and returns interstitial fluid to the bloodstream. Lymphedema is most frequently a complication of cancer treatment or parasitic infections, but it can also be seen in a number of genetic disorders. Tissues with lymphedema are at high risk of infection because the lymphatic system has been compromised. Though incurable and progressive, a number of treatments may improve symptoms. This commonly includes compression therapy, good skin care, exercise, and manual lymphatic drainage (MLD), which together are known as combined decongestive therapy. Diuretics are not useful.
Swelling due to a compromised lymphatic system |
Babesiosis or piroplasmosis is a malaria-like parasitic disease caused by infection with a eukaryotic parasite in the order Piroplasmida, typically a Babesia or Theileria, in the phylum Apicomplexa. Human babesiosis transmission via tick bite is most common in the Northeastern and Midwestern United States and parts of Europe, and sporadic throughout the rest of the world. It occurs in warm weather. People can get infected with Babesia parasites by the bite of an infected tick, by getting a blood transfusion from an infected donor of blood products, or by congenital transmission.
Ticks transmit the human strain of babesiosis, so it often presents with other tick-borne illnesses such as Lyme disease. After trypanosomes, Babesia is thought to be the second-most common blood parasite of mammals. They can have major adverse effects on the health of domestic animals in areas without severe winters. In cattle, the disease is known as Texas cattle fever or redwater.
Malaria-like parasitic disease caused by infection with the alveoate Babesia or Theileria |
Hereditary hemorrhagic telangiectasia (HHT), also known as Osler–Weber–Rendu disease and Osler–Weber–Rendu syndrome, is a rare autosomal dominant genetic disorder that leads to abnormal blood vessel formation in the skin, mucous membranes, and often in organs such as the lungs, liver, and brain. It may lead to nosebleeds, acute and chronic digestive tract bleeding, and various problems due to the involvement of other organs. Treatment focuses on reducing bleeding from blood vessel lesions, and sometimes surgery or other targeted interventions to remove arteriovenous malformations in organs. Chronic bleeding often requires iron supplements and sometimes blood transfusions. HHT is transmitted in an autosomal dominant fashion, and occurs in one in 5,000–8,000 people in North America. The disease carries the names of Sir William Osler, Henri Jules Louis Marie Rendu, and Frederick Parkes Weber, who described it in the late 19th and early 20th centuries.
Genetic disorder affecting blood vessel development |
Pheochromocytoma is a rare tumor of the adrenal medulla composed of chromaffin cells and is part of the paraganglioma (PGL) family of tumors, being defined as an intra-adrenal PGL. These neuroendocrine tumors can be sympathetic, where they release catecholamines into the bloodstream which cause the most common symptoms, including hypertension, tachycardia, sweating, and headaches. Some PGLs may secrete little to no catecholamines, or only secrete paroxysmally (episodically), and other than secretions, PGLs can still become clinically relevant through other secretions or mass effect. PGLs of the head and neck are typically parasympathetic and their sympathetic counterparts are predominantly located in the abdomen and pelvis, particularly concentrated at the organ of Zuckerkandl at the bifurcation of the aorta.
Type of neuroendocrine tumor |
- Glomus tumor was also the name formerly used for a tumor now called a paraganglioma. A glomus tumor is a rare neoplasm arising from the glomus body and mainly found under the nail, on the fingertip or in the foot. They account for less than 2% of all soft tissue tumors. The majority of glomus tumors are benign, but they can also show malignant features. Glomus tumors were first described by Hoyer in 1877 while the first complete clinical description was given by Masson in 1924. Histologically, glomus tumors are made up of an afferent arteriole, anastomotic vessel, and collecting venule. Glomus tumors are modified smooth muscle cells that control the thermoregulatory function of dermal glomus bodies. As stated above, these lesions should not be confused with paragangliomas, which were formerly also called glomus tumors in now-antiquated clinical usage. Glomus tumors do not arise from glomus cells, but paragangliomas do. Familial glomangiomas have been associated with a variety of deletions in the GLMN (glomulin) gene, and are inherited in an autosomal dominant manner, with incomplete penetrance.
Type of soft tissue neoplasm |
Dirofilariasis is an infection by parasites of the genus Dirofilaria. It is transmitted through a mosquito bite; its main hosts include dogs and wild canids. These can give rise to granulomas in the pulmonary artery. Some common symptoms include cough, fever and pleural effusion. It may also appear on X-rays of the chest.
Human disease transmitted by mosquitoes |
New York City was affected by the AIDS epidemic of the 1980s more than any other U.S. city. The AIDS epidemic has been and continues to be highly localized due to a number of complex socio-cultural factors that affect the interaction of the populous communities that inhabit New York. During the 1980s epidemic, the large presence of the gay community prompted local medical practitioners to take note of and respond to observed patterns of reported ailments early on. Widespread fear and panic about the epidemic were combatted by efforts of community activists and local government policies that were at some times supportive, and at other times damaging or ineffectual. Improvements of both drug therapies and prevention education have led to a decreased number of AIDS cases. In June, 2014, New York Governor Andrew Cuomo announced a new strategy designed to "End the Epidemic" in the state through a combination of increased HIV screening and testing, promotion of Pre-exposure Prophylaxis (PrEP) and improved linkage and retention in clinical care for HIV-positive persons. Two years later the New York City Department of Health and Mental Hygiene reported a decline in new infections of nearly 8 percent annually or approximately 15% since the campaign was launched. |
Cutis laxa or pachydermatocele is a group of rare connective tissue disorders in which the skin becomes inelastic and hangs loosely in folds.
Medical condition |
Biphobia is aversion toward bisexuality or people who are identified or perceived as being bisexual. Similarly to homophobia, it refers to hatred and prejudice specifically against those identified or perceived as being in the bisexual community. It can take the form of denial that bisexuality is a genuine sexual orientation, or of negative stereotypes about people who are bisexual. Other forms of biphobia include bisexual erasure. The hatred of bisexual women and femmes, being a form of prejudice at the intersection of biphobia and misogyny, is referred to as bimisogyny or less commonly bisexism. This is a gendered form of biphobia that accounts for intersectionality in discussions on bigotry.
Aversion to bisexual people |
Depersonalization is a dissociative phenomenon characterized by a subjective feeling of detachment from oneself, manifesting as a sense of disconnection from one's thoughts, emotions, sensations, or actions, and often accompanied by a feeling of observing oneself from an external perspective. Subjects perceive that the world has become vague, dreamlike, surreal, or strange, leading to a diminished sense of individuality or identity. Sufferers often feel as though they are observing the world from a distance, as if separated by a barrier "behind glass". They maintain insight into the subjective nature of their experience, recognizing that it pertains to their own perception rather than altering objective reality. This distinction between subjective experience and objective reality distinguishes depersonalization from delusions, where individuals firmly believe in false perceptions as genuine truths. Depersonalization is also distinct from derealization, which involves a sense of detachment from the external world rather than from oneself. Depersonalization-derealization disorder refers to chronic depersonalization, classified as a dissociative disorder in both the DSM-4 and the DSM-5, which underscores its association with disruptions in consciousness, memory, identity, or perception. This classification is based on the findings that depersonalization and derealization are prevalent in other dissociative disorders including dissociative identity disorder. Though degrees of depersonalization can happen to anyone who is subject to temporary anxiety or stress, chronic depersonalization is more related to individuals who have experienced a severe trauma or prolonged stress/anxiety. Depersonalization-derealization is the single most important symptom in the spectrum of dissociative disorders, including dissociative identity disorder and "dissociative disorder not otherwise specified" (DD-NOS). It is also a prominent symptom in some other non-dissociative disorders, such as anxiety disorders, clinical depression, bipolar disorder, schizophrenia, schizoid personality disorder, hypothyroidism or endocrine disorders, schizotypal personality disorder, borderline personality disorder, obsessive–compulsive disorder, migraines, and sleep deprivation; it can also be a symptom of some types of neurological seizure, and it has been suggested that there could be common aetiology between depersonalization symptoms and panic disorder, on the basis of their high co-occurrence rates. In social psychology, and in particular self-categorization theory, the term depersonalization has a different meaning and refers to "the stereotypical perception of the self as an example of some defining social category".
Anomaly of self-awareness |
Discrimination against gay men, sometimes called gayphobia, is a form of homophobic prejudice, hatred, or bias specifically directed toward gay men, male homosexuality, or men who are perceived to be gay. This discrimination is closely related to femmephobia, which is the dislike of, or hostility toward, individuals who present as feminine, including gay and effeminate men. Discrimination against gay men can result from religion, prejudicial reactions to one's feminine mannerisms, styles of clothing, and even vocal register. Within the LGBT-community, internalized issues around meeting social expectations of masculinity have been found among gay, bisexual, and transgender men. It is analogous to lesbophobia.
Prejudice, hatred, or bias toward gay men, male homosexuality, or men perceived to be gay |
Trisomy 16 is a chromosomal abnormality in which there are 3 copies of chromosome 16 rather than two. It is the most common autosomal trisomy leading to miscarriage, and the second most common chromosomal cause. About 6% of miscarriages have trisomy 16. Those mostly occur between 8 and 15 weeks after the last menstrual period. It is not possible for a child to be born alive with an extra copy of this chromosome present in all cells. It is possible, however, for a child to be born alive with the mosaic form.
Partial or complete triplication of chromosome 16 |
Hypophosphatasia is a rare, and sometimes fatal, inherited metabolic bone disease. Clinical symptoms are heterogeneous, ranging from the rapidly fatal, perinatal variant, with profound skeletal hypomineralization, respiratory compromise or vitamin B6 dependent seizures to a milder, progressive osteomalacia later in life. Tissue non-specific alkaline phosphatase (TNSALP) deficiency in osteoblasts and chondrocytes impairs bone mineralization, leading to rickets or osteomalacia. The pathognomonic finding is subnormal serum activity of the TNSALP enzyme, which is caused by one of 388 genetic mutations identified to date, in the gene encoding TNSALP. Genetic inheritance is autosomal recessive for the perinatal and infantile forms but either autosomal recessive or autosomal dominant in the milder forms. The prevalence of hypophosphatasia is not known; one study estimated the live birth incidence of severe forms to be 1:100,000. and some studies report a higher prevalence of milder disease.
Medical condition |
Intersection syndrome is a painful condition that affects the lateral side of the forearm when inflammation occurs at the intersection of the muscle bellies of the abductor pollicis longus and extensor pollicis brevis cross over the extensor carpi radialis longus and the extensor carpi radialis brevis. These 1st and 2nd dorsal muscle compartments intersect at this location, hence the name. The mechanism of injury is usually repetitive resisted extension, as with rowing, weight lifting, or pulling. Intersection syndrome is often confused with another condition called DeQuervain's syndrome, which is an irritation of the thumb-sided set of tendons at the wrist, called the first dorsal compartment.
Medical condition |
Syphilis is a sexually transmitted infection caused by the bacterium Treponema pallidum subspecies pallidum. The signs and symptoms depend on the stage it presents: primary, secondary, latent or tertiary. The primary stage classically presents with a single chancre though there may be multiple sores. In secondary syphilis, a diffuse rash occurs, which frequently involves the palms of the hands and soles of the feet. There may also be sores in the mouth or vagina. Latent syphilis has no symptoms and can last years. In tertiary syphilis, there are gummas, neurological problems, or heart symptoms. Syphilis has been known as "the great imitator" because it may cause symptoms similar to many other diseases. Syphilis is most commonly spread through sexual activity. It may also be transmitted from mother to baby during pregnancy or at birth, resulting in congenital syphilis. Other diseases caused by Treponema bacteria include yaws, pinta, and nonvenereal endemic syphilis. These three diseases are not typically sexually transmitted. Diagnosis is usually made by using blood tests; the bacteria can also be detected using dark field microscopy. The Centers for Disease Control and Prevention (U.S.) recommends for all pregnant women to be tested. The risk of sexual transmission of syphilis can be reduced by using a latex or polyurethane condom. Syphilis can be effectively treated with antibiotics. The preferred antibiotic for most cases is benzathine benzylpenicillin injected into a muscle. In those who have a severe penicillin allergy, doxycycline or tetracycline may be used. In those with neurosyphilis, intravenous benzylpenicillin or ceftriaxone is recommended. During treatment people may develop fever, headache, and muscle pains, a reaction known as Jarisch–Herxheimer. In 2015, about 45.4 million people had syphilis infections, of which six million were new cases. During 2015, it caused about 107,000 deaths, down from 202,000 in 1990. After decreasing dramatically with the availability of penicillin in the 1940s, rates of infection have increased since the turn of the millennium in many countries, often in combination with human immunodeficiency virus (HIV). This is believed to be partly due to unsafe drug use, increased prostitution, and decreased use of condoms.
Sexually transmitted infection |
Enthesitis is inflammation of the entheses, the sites where tendons, ligaments and joint capsules attach to bones. It is a type of enthesopathy, meaning any pathologic condition of the entheses, with or without inflammation. There are some cases of isolated, primary enthesitis which are very poorly studied and understood. It is known to be associated with other autoimmune diseases, like spondyloarthropathies and psoriasis. A common autoimmune enthesitis is at the heel, where the Achilles tendon attaches to the calcaneus. It is associated with HLA B27 arthropathies, such as ankylosing spondylitis, psoriatic arthritis, and reactive arthritis.
Medical condition |
Attention deficit hyperactivity disorder predominantly inattentive, is one of the three presentations of attention deficit hyperactivity disorder (ADHD). In 1987–1994, there were no subtypes or presentations and thus it was not distinguished from hyperactive ADHD in the Diagnostic and Statistical Manual (DSM-III-R). In DSM-5, subtypes were discarded and reclassified as presentations of the same disorder that change over time. The 'predominantly inattentive presentation' is similar to the other presentations of ADHD except that it is characterized predominately by symptoms of inattention, such as poor sustained attention, procrastination, hesitation, and forgetfulness. It differs in having fewer or no typical symptoms of hyperactivity or impulsiveness. Lethargy and fatigue are sometimes reported, but ADHD-PI is separate from the distinct cognitive disengagement syndrome (CDS).
Neurodevelopmental disorder |
Full trisomy 9 is a rare and fatal chromosomal disorder caused by having three copies (trisomy) of chromosome number 9. It can be a viable condition if the trisomic component affects only part of the cells of the body (mosaicism) or in cases of partial trisomy of ths short arm in which cells have a normal set of two entire chromosomes 9 plus part of a third copy of the short arm ("p") of th3 chromosome.
Medical condition |
Lenz microphthalmia syndrome is a very rare inherited disorder characterized by abnormal smallness of one or both eyes (microphthalmos) sometimes with droopy eyelids (blepharoptosis), resulting in visual impairment or blindness. Eye problems may include coloboma, microcornea, and glaucoma. Some affected infants may have complete absence of the eyes (anophthalmia). Most affected infants have developmental delay and intellectual disability, ranging from mild to severe. Other physical abnormalities associated with this disorder can include an unusually small head (microcephaly), and malformations of the teeth, ears, fingers or toes, skeleton, and genitourinary system. The range and severity of findings vary from case to case. Formal diagnosis criteria do not exist. Lenz microphthalmia syndrome is also known as LMS, Lenz syndrome, Lenz dysplasia, Lenz dysmorphogenetic syndrome, or microphthalmia with multiple associated anomalies. It is named after Widukind Lenz, a German geneticist and dysmorphologist.
Medical condition |
Lamivudine/nevirapine/zidovudine (3TC/NVP/AZT) is a fixed-dose combination antiretroviral medication used to treat HIV/AIDS. It contains lamivudine, nevirapine, and zidovudine. It is either used by itself or along with other antiretrovirals. It is a recommended treatment in those who are pregnant. It is taken by mouth twice a day. The medication is generally well tolerated. Side effects are those of the underlying medications. This includes rash, pancreatitis, low white blood cell levels, and muscle pain. Use is not recommended in those with significant liver problems. Use in pregnancy and breastfeeding appear to be safe. The combination tablet is typically not appropriate for children. It is on the World Health Organization's List of Essential Medicines. The combination is not commercially available in the United States as of 2018.
Anti-HIV combination medication |
Hereditary coproporphyria (HCP) is a disorder of heme biosynthesis, classified as an acute hepatic porphyria. HCP is caused by a deficiency of the enzyme coproporphyrinogen oxidase, coded for by the CPOX gene, and is inherited in an autosomal dominant fashion, although homozygous individuals have been identified. Unlike acute intermittent porphyria, individuals with HCP can present with cutaneous findings similar to those found in porphyria cutanea tarda in addition to the acute attacks of abdominal pain, vomiting and neurological dysfunction characteristic of acute porphyrias. Like other porphyrias, attacks of HCP can be induced by certain drugs, environmental stressors or diet changes. Biochemical and molecular testing can be used to narrow down the diagnosis of a porphyria and identify the specific genetic defect. Overall, porphyrias are rare diseases. The combined incidence for all forms of the disease has been estimated at 1:20,000. The exact incidence of HCP is difficult to determine, due to its reduced penetrance.
Medical condition |
Plasminogen activator inhibitor-1 (PAI-1) also known as endothelial plasminogen activator inhibitor is a protein that in humans is encoded by the SERPINE1 gene. Elevated PAI-1 is a risk factor for thrombosis and atherosclerosis. PAI-1 is a serine protease inhibitor (serpin) that functions as the principal inhibitor of tissue-type plasminogen activator (tPA) and urokinase (uPA), the activators of plasminogen and hence fibrinolysis. It is a serine protease inhibitor (serpin) protein (SERPINE1). The other PAI, plasminogen activator inhibitor-2 (PAI-2) is secreted by the placenta and only present in significant amounts during pregnancy. In addition, protease nexin acts as an inhibitor of tPA and urokinase. PAI-1, however, is the main inhibitor of the plasminogen activators.
Human protein |
Leukotriene C4 synthase deficiency is an inborn error of metabolism. Deficiency of Leukotriene C4 synthase can lead to a reduction in Leukotriene C4.
Medical condition |
Spastic paraplegia 15 (SPG15) is a form of hereditary spastic paraplegia that commonly becomes apparent during childhood or adolescence. The disease is caused by mutations within the ZFYVE26 gene - also known as the SPG15 gene - and is passed down in an autosomal recessive manner. The disease is characterised by progressive spasticity that starts within the lower extremities and spreads to the upper body and limbs. This can be accompanied by other manifestations, such as developmental delay or learning disability, often preceding motor involvement amongst others. There have also been "extremely rare" cases of onset in adulthood.
Genetic disorder |
Koumpounophobia is the term used to describe the phobia of clothes buttons. This phobia regularly leads to feelings of fear and disgust when sufferers are exposed to buttons either visually or physically. It is estimated that less than one percent of the U.S. suffers from this phobia. The most common forms of treatment for koumpounophobia are behavioral therapy and cognitive-behavioral therapy.
Medical condition |
A volume expander is a type of intravenous therapy that has the function of providing volume for the circulatory system. It may be used for fluid replacement or during surgery to prevent nausea and vomiting after surgery.
Intravenous fluid that increases body fluid volume |
Kikuchi disease was described in 1972 in Japan. It is also known as histiocytic necrotizing lymphadenitis, Kikuchi necrotizing lymphadenitis, phagocytic necrotizing lymphadenitis, subacute necrotizing lymphadenitis, and necrotizing lymphadenitis. Kikuchi disease occurs sporadically in people with no family history of the condition. It was first described by Dr Masahiro Kikuchi (1935–2012) in 1972 and independently by Y. Fujimoto.
Medical condition |
Inherited disorders of trafficking (IDT) are a family of disorders that involve vesicular delivery of proteins. They were characterized in 1975. CEDNIK syndrome is a rare inherited genetic skin condition (Genodermatosis) which has been associated with a loss-of-function mutation in SNAP29; SNAP29 is a member of the SNAP Receptor (SNARE) protein family. SNARE proteins assist with vesicle trafficking and are responsible for the fusion events between the membranes of vesicles and the membranes of their targets. There are two types of SNARE proteins, v-SNARE's which are located on vesicle membranes, and t-SNARE's that are located on target membranes. SNAP29 is a t-SNARE, and as a t-SNARE, this protein must form a complex with v-SNARE's for fusion of vesicles and secretion of their load to occur. A mutation/deficiency in this protein which occurs in patients with CEDNIK syndrome results in an impaired maturation and secretion of lamellar granules—these are vesicular structures derived from the Golgi. SNAP29 is necessary for proper epidermal differentiation. Mutations in SNAP29 result in problems with molecular trafficking and transport, and leads to CEDNIK syndrome. |
Infectious pancreatic necrosis (IPN) is a severe viral disease of salmonid fish. It is caused by infectious pancreatic necrosis virus, which is a member of the Birnaviridae family. This disease mainly affects young salmonids such as trout or salmon of less than six months, although adult fish may carry the virus without showing symptoms. Resistance to infection develops more rapidly in warmer water. It is highly contagious and found worldwide, but some regions have managed to eradicate or greatly reduce the incidence of disease. The disease is normally spread horizontally via infected water, but spread also occurs vertically. It is unable to infect mammals.
Viral disease of fish |
Sacrosidase is a medication used to replace sucrase in people lacking this enzyme. It is available as an oral solution. Sucraid is approved by the U.S. Food and Drug Administration (FDA) for the therapy of the genetically determined sucrase deficiency that is part of the Congenital Sucrase-Isomaltase Deficiency (CSID). Sacrosidase assists in the breakdown of sugar/sucrose into simpler forms and is useful for the relief of gastrointestinal symptoms that are associated with CSID.
Pharmaceutical product |
Zaspopathy, also called ZASP-related myofibril myopathy, is a novel autosomal dominant form of progressive muscular dystrophy, first described in 2005.
Medical condition |
Olmesartan/hydrochlorothiazide, sold under the brand name Benicar HCT among others, is a fixed-dose combination medication used to treat high blood pressure. It is a combination of olmesartan medoxomil, an angiotensin II receptor blocker and hydrochlorothiazide, a diuretic. It may be used if olmesartan is not sufficient to manage blood pressure. It is taken by mouth. Common side effects include nausea, dizziness, and upper respiratory tract infections. Serious side effects may include kidney problems, allergic reactions, electrolyte problems and low blood pressure. Use in pregnancy is not recommended. Olmesartan works by blocking the effects of angiotensin II while hydrochlorothiazide works by increasing the loss of sodium by the kidneys. No generic version is available in the United States as of 2017. In 2020, it was the 281st most commonly prescribed medication in the United States, with more than 1 million prescriptions.
Combination drug |
Insulin tregopil is a fast-acting insulin analog, unlike other forms of insulin it is delivered by mouth. It is developed by Biocon for diabetes. |
Tyrosinemia type II is an autosomal recessive condition with onset between ages 2 and 4 years, when painful circumscribed calluses develop on the pressure points of the palm of the hand and sole of the foot.
Medical condition |
GAPO syndrome is a rare, autosomal recessive disorder that causes severe growth retardation, and has been observed fewer than 30 times before 2011. GAPO is an acronym that encompasses the predominant traits of the disorder: growth retardation, alopecia, pseudoanodontia, and worsening optic atrophy in some subjects. Other common symptoms include premature aging, large, prominent foreheads, and delayed bone aging. GAPO syndrome typically results in premature death around age 30–40, due to interstitial fibrosis and atherosclerosis.
Medical condition |
RAPADILINO syndrome is an autosomal recessive disorder characterized by: RA: radial ray defect
PA: patellar aplasia, arched or cleft palate
DI: diarrhea, dislocated joints
LI: little, limb malformation
NO: slender nose, normal intelligence It is more prevalent in Finland than elsewhere in the world. It has been associated with the gene RECQL4. This is also associated with Rothmund–Thomson syndrome and Baller–Gerold syndrome.
Medical condition |
Ichthyosis-intellectual disability-dwarfism-renal impairment is a very rare autosomal recessive ichthyotic genetic disorder which consists of congenital ichthyosis, intellectual disabilities, dwarfism/short stature and renal impairment. This condition has been described only in four members of an Iranian family and was discovered in the summer of 1975.
Genetic disorder |
Spider lamb syndrome, also known as spider syndrome and more formally as ovine hereditary chondrodysplasia, is a homozygous recessive disorder affecting the growth of cartilage and bone in sheep. The name derives from the limbs of afflicted animals being thin, elongated, and "spider-like". It is a semilethal trait, which is thought to have been first observed in the 1970s, and is most common in sheep of the Suffolk and Hampshire breeds. These are both black-faced breeds of sheep; the syndrome has never been detected in white-faced breeds. The syndrome was an economically significant issue for sheep breeders in the 1980s, but with strict testing and breeding programs it has become less common. The mutation which causes spider lamb syndrome is found on ovine chromosome 6, and involves the inactivation of fibroblast growth factor receptor 3. It has been compared to dwarfism in beef cattle. Afflicted animals may be visibly deformed at birth and unable to stand, or seemingly normal for the first 4 to 6 weeks of their lives.
Genetic disorder of sheep |
Bifunctional purine biosynthesis protein PURH is a protein that in humans is encoded by the ATIC gene. ATIC encodes an enzyme which generates inosine monophosphate from aminoimidazole carboxamide ribonucleotide. It has two functions: EC 2.1.2.3 - 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase
EC 3.5.4.10 - IMP cyclohydrolase
Mammalian protein found in Homo sapiens |
McDonough syndrome, also known as Mental retardation, peculiar facies, kyphoscoliosis, diastasis recti, cryptorchidism, and congenital heart defect is a very rare multi-systemic genetic disorder which is characterized by facial dysmorphisms, psychomotor delays, intellectual disabilities, and congenital heart defects. Additional findings include either pectus excavatum or pectus carinatum, kyphoscoliosis, diastasis recti and cryptorchidism.
Medical condition |
In trees, heart rot is a fungal disease that causes the decay of wood at the center of the trunk and branches. Fungi enter the tree through wounds in the bark and decay the heartwood. The diseased heartwood softens, making trees structurally weaker and prone to breakage. Heart rot is a major factor in the economics of logging and the natural growth dynamic of many older forests. Heart rot is prevalent throughout the world affecting all hardwood trees and can be very difficult to prevent. A good indication of heart rot is the presence of mushrooms or fungus conks on the tree.
Fungal disease of trees |
Triphalangeal thumbs-brachyectrodactyly syndrome is a very rare limb malformation syndrome of genetic origin which is characterized by polydactyly, syndactyly, brachydactyly, ectrodactyly, triphalangeal thumb and polyphalangism. Onychodystrophy and anonychia are also seen often. 27 cases from seven families from Mexico and the United States have been described in medical literature. It is inherited in an autosomal dominan manner and thought to be caused by mutations in the HOXD13 gene, in chromosome 2.
Medical condition |
Intraocular hemorrhage is bleeding inside the eye. Bleeding can occur from any structure of the eye where there is vasculature or blood flow, including the anterior chamber, vitreous cavity, retina, choroid, suprachoroidal space, or optic disc. Intraocular hemorrhage may be caused by physical trauma; ocular surgery; or other diseases, injuries, or disorders. Severe bleeding may cause high pressure inside the eye, leading to blindness.
Medical condition |
Hereditary equine regional dermal asthenia (HERDA), also known as hyperelastosis cutis (HC), is an inherited autosomal recessive connective tissue disorder. It develops from a homozygous recessive mutation that weakens collagen fibers that allow the skin of the animal to stay connected to the rest of the animal. Affected horses have extremely fragile skin that tears easily and exhibits impaired healing. In horses with HC, the skin separates between the deep and superficial dermis. There is no cure. Most affected individuals receive an injury they cannot heal, and are euthanized. Managed breeding strategy is currently the only option for reducing the incidence of the disease. The disease is found primarily in the American Quarter Horse, specifically in cutting horse lines. Affected horses have been found to trace to the stallion Poco Bueno, or possibly, farther back to one of his ancestors. Researchers have now named four deceased Quarter Horse stallions that were carriers and produced at least one affected HERDA foal; they are Dry Doc, Doc O'Lena, Great Pine, and Zippo Pine Bar. These stallions all trace to Poco Bueno through his son and daughter Poco Pine and Poco Lena. Other breeds affected are the American Paint Horse, and the Appaloosa and any other breed registry that allows outcrossing to AQHA horses. HERDA is characterized by abnormal skin along the back that tears or rips easily and heals into disfiguring scars. The skin is loose, and hyper-elastic in affected horses. This collagen based abnormality affects their heart valves too and their mechanical properties are found to be inferior to native horses. Symptoms typically don’t appear until the horse is subjected to pressure or injury on their back, neck or hips, usually around two years of age. However foals can show signs when injured, while other horses mature and only show signs in the joints. The expression of HERDA is variable, and the phenotypic range of expression is still being determined. After being tested, the results either show "normal", "carrier" or "affected" and can be determined by DNA testing of either a blood or hair sample. N/N — Normal: does not have the HERDA gene
N/HRD- Carrier: carries one copy of the gene
HRD/HRD- Affected: has two copies of the gene The expected lifespan of an affected horse is 2–4 years. There is currently no cure for this disease. To prevent it from occurring, the only solution is not to breed horses who both carry the HERDA allele.
Genetic disease in Quarter Horses, Appaloosas, and Paint Horses |
Hereditary gingival fibromatosis (HGF), also known as idiopathic gingival hyperplasia, is a rare condition of gingival overgrowth. HGF is characterized as a benign, slowly progressive, nonhemorrhagic, fibrous enlargement of keratinized gingiva. It can cover teeth in various degrees, and can lead to aesthetic disfigurement. Fibrous enlargement is most common in areas of maxillary and mandibular tissues of both arches in the mouth. Phenotype and genotype frequency of HGF is 1:175,000 where males and females are equally affected but the cause is not entirely known. It mainly exists as an isolated abnormality but can also be associated with a multi-system syndrome.
Medical condition |
Obestatin is a hormone that is produced in specialized epithelial cells of the stomach and small intestine of several animals including humans. Obestatin was originally identified as an anorectic peptide, but its effect on food intake remains controversial.
Hormone that is produced in the stomach |
Interleukin 20 receptors (IL20R) belong to the IL-10 family. IL20R are involved in both pro-inflammatory and anti-inflammatory immune response. There are two types of IL20R: Type I and Type II. IL20R is found in many organ resident effector cells such as keratinocytes at the skin epidermis, osteoclasts, found in bones, and epithelial cells of the intestine and trachea. IL20R alpha and beta subunits have also been found in some immune cells. IL20R is implicated in diseases such as psoriasis, rheumatoid arthritis, and glaucoma. |
Merlin is a cytoskeletal protein. In humans, it is a tumor suppressor protein involved in neurofibromatosis type II. Sequence data reveal its similarity to the ERM protein family. The name "merlin" is an acronym for "Moesin-Ezrin-Radixin-Like Protein".
Mammalian protein found in Homo sapiens |
A vasoprotective is a medication which acts to alleviate or prevent conditions or diseases which affect the blood vessels. The term is used in the World Health Organization's Anatomical Therapeutic Chemical Classification System to encompass therapeutic agents used in the treatment of hemorrhoids or varicose veins. The term may also be used to describe drugs which lower the risk of developing hypercholesterolemia or hypertension. Examples of vasoprotectives include 1-methylnicotinamide, estrogen, tribenoside, and valsartan.
More specifically, arterial vasoprotectors are called angioprotectors.
Medication for conditions affecting blood vessels |
Hemochromatosis type 4 is a hereditary iron overload disorder that affects ferroportin, an iron transport protein needed to export iron from cells into circulation. Although the disease is rare, it is found throughout the world and affects people from various ethnic groups. While the majority of individuals with type 4 hemochromatosis have a relatively mild form of the disease, some affected individuals have a more severe form. As the disease progresses, iron may accumulate in the tissues of affected individuals over time, potentially resulting in organ damage.
Medical condition |
Yemenite deaf-blind hypopigmentation syndrome is a condition caused by a mutation on the SRY-related HMG-box gene 10. It was characterized in 1990, after being seen in two siblings from Yemen who presented with a "hitherto undescribed association of microcornea, colobomata of the iris and choroidea, nystagmus, severe early hearing loss, and patchy hypo- and hyperpigmentation." Some sources affirm SOX10 involvement.
Medical condition |
XYYY syndrome, also known as 48,XYYY, is a chromosomal disorder in which a male has two extra copies of the Y chromosome. The syndrome is exceptionally rare, with only twelve recorded cases. The presentation of the syndrome is heterogeneous, but appears to be more severe than its counterpart XYY syndrome. Common traits include borderline to mild intellectual disability, infertility, radioulnar synostosis, and in some cases tall stature.
Chromosomal disorder |
72 kDa inositol polyphosphate 5-phosphatase, also known as phosphatidylinositol-4,5-bisphosphate 5-phosphatase or Pharbin, is an enzyme that in humans is encoded by the INPP5E gene.
Mammalian protein found in Homo sapiens |
Reticular erythematous mucinosis (REM) is a skin condition caused by fibroblasts producing abnormally large amounts of mucopolysaccharides. It is a disease that tends to affect women in the third and fourth decades of life.
Medical condition |
Sphincter of Oddi dysfunction refers to a group of functional disorders leading to abdominal pain due to dysfunction of the Sphincter of Oddi: functional biliary sphincter of Oddi and functional pancreatic sphincter of Oddi disorder. The sphincter of Oddi is a sphincter muscle, a circular band of muscle at the bottom of the biliary tree which controls the flow of pancreatic juices and bile into the second part of the duodenum. The pathogenesis of this condition is recognized to encompass stenosis or dyskinesia of the sphincter of Oddi; consequently the terms biliary dyskinesia, papillary stenosis, and postcholecystectomy syndrome have all been used to describe this condition. Both stenosis and dyskinesia can obstruct flow through the sphincter of Oddi and can therefore cause retention of bile in the biliary tree and pancreatic juice in the pancreatic duct. Individuals with sphincter of Oddi dysfunction present with abdominal pain resembling that of structural or inflammatory disorders of the gallbladder, biliary tree or pancreas. Among other characteristics, the pain is typically in the upper part of the abdomen or in the right upper quadrant of the abdomen, lasts 30 minutes or longer, and is not associated with a structural abnormality that could lead to these symptoms. The disorder is classified into two subtypes: functional biliary sphincter of Oddi disorder, where there is no disturbance in pancreatic enzyme measurements, such as amylase and lipase; and, functional pancreatic sphincter of Oddi disorder, where pancreatic enzyme measurements are elevated. Attacks can be precipitated by opioid analgesics, particularly in patients having undergone a cholecystectomy or bariatric surgery.
Medical condition |
Inclusion body disease (IBD) is an infectious and invariably fatal viral disease affecting captive specimens of the boid family of snakes, particularly Boa constrictor. It has been recognized since the mid-1970s. It is so named because of the characteristic intracytoplasmic inclusion bodies that are observed in clinical examinations in epidermal cells, oral mucosal epithelial cells, visceral epithelial cells, and neurons. In the 1970s and 1980s, the disease was most commonly observed in Burmese pythons. From the 1980s on, it has been most commonly observed in boa constrictors. To date, no treatment for IBD is known, and snakes that are diagnosed with IBD should generally be euthanized to prevent suffering in the snake and to reduce the risk of further infections. All boid snakes should be considered susceptible to the disease. Many zoos quarantine boas specifically as a result of the risk of IBD before introducing them into their permanent collections and breeding programs. While the disease has not been identified in non-boid snakes, non-boid snakes can harbour the virus. Mites are thought to be the primary vector of the virus, or at least to be a contributory factor. Its distribution is worldwide, specifically in captive boid snakes. Its occurrence in the wild is unknown. The disease has only been identified in adult and subadult specimens, not neonates. Even so, all age groups are considered susceptible, and anecdotal reports of the infection in neonates have been made. A retro-like virus infection was suspected as the causative agent of IBD, but identification of highly divergent arenavirus sequences from boa constrictors with IBD suggested arenaviruses to be the etiological agent of IBD. Cell culture isolation of several arenaviruses from boid snakes with IBD further solidified, but did not yet confirm, the etiological relationship between IBD and arenaviruses. In python species, the disease presents as a profound, highly severe neurological illness that is swiftly fatal. In adult boa constrictors, the disease assumes a milder, more chronic or, sometimes, even asymptomatic form with a wide array of extremely variable manifestations that may or may not gradually progress to death.
Chronic and fatal viral disease observed in Boid snakes |
Spermaturia is condition characterized by the presence of sperm in the urine. It can be observed in males of other species and then sometimes diagnosed in veterinary medicine. The cause is most often a retrograde ejaculation. It may be physiological during urination after coitus. An irrational belief that one is experiencing spermaturia is a common symptom of Dhat syndrome.
Disease |
Jembrana disease is an acute viral disease of cattle. While it produces relatively mild symptoms in taurine cattle, the Jembrana virus is particularly severe in Bali cattle where it has a fatality rate of approximately 17 percent. Its first documented outbreak occurred in 1964 in the Jembrana district of Bali, Indonesia. Within two years of its appearance the disease had killed an estimated 26,000 of the approximately 300,000 cattle on Bali Island. The Jembrana disease virus belongs to the genus Lentivirus, which include immunodeficiency viruses such as HIV. Instead of the chronic disease produced by most lentiviruses, Jembrana disease produces acute effects. After an incubation period of 5–12 days the disease produces symptoms including loss of appetite, fever, lethargy, enlargement of the lymph nodes, and diarrhea. There is at least one strain that has been sequenced.
Viral disease of cattle |
Hereditary elliptocytosis, also known as ovalocytosis, is an inherited blood disorder in which an abnormally large number of the person's red blood cells are elliptical rather than the typical biconcave disc shape. Such morphologically distinctive erythrocytes are sometimes referred to as elliptocytes or ovalocytes. It is one of many red-cell membrane defects. In its severe forms, this disorder predisposes to haemolytic anaemia. Although pathological in humans, elliptocytosis is normal in camelids.
Medical condition |
Insulin icodec/semaglutide, or IcoSema, is a combination medication of insulin icodec and semaglutide in development for type 2 diabetes by Novo Nordisk. It is injected once weekly.
Combination drug |
Wallis–Zieff–Goldblatt syndrome is a rare condition characterized by inherited skeletal disorders manifested mainly as rhizomelic short stature and lateral clavicular defects. It is also known as Cleidorhizomelic syndrome.
Medical condition |
Katz syndrome is a rare congenital disorder, presenting as a polymalformative syndrome characterized by enlarged viscera, hepatomegaly, diabetes, and skeletal anomalies that result in a short stature, cranial hyperostosis, and typical facial features. It is probably a variant of the autosomal recessive type of Craniometaphyseal Dysplasia.
Medical condition |
Reticulate acropigmentation of Kitamura is a type of pigmentation disorder of the skin. It presents with coloured freckle-like and slightly depressed flat spots arranged in a lace-like pattern on the backs of hands and feet. It tends to occur in skin folds of teenagers and in early adulthood, and darkens over time. It is inherited in an autosomal-dominant fashion. The condition is rare. It was first described in Japan, before recognising that is also occurs elsewhere.
Medical condition |
Lamivudine/raltegravir, sold under the brand name Dutrebis, is a fixed-dose combination antiretroviral medication used in the treatment of HIV/AIDS. It contains lamivudine and raltegravir. It is taken by mouth. Side effects may include lactic acidosis, pancreatitis, liver failure, and severe skin rashes. It was approved for medical use in the United States in 2015. Lamivudine/raltegravir is not available in the United States.
Combination drug for HIV |
Wiskott–Aldrich syndrome (WAS) is a rare X-linked recessive disease characterized by eczema, thrombocytopenia, immune deficiency, and bloody diarrhea. It is also sometimes called the eczema-thrombocytopenia-immunodeficiency syndrome in keeping with Aldrich's original description in 1954. The WAS-related disorders of X-linked thrombocytopenia (XLT) and X-linked congenital neutropenia (XLN) may present with similar but less severe symptoms and are caused by mutations of the same gene.
Medical condition |
Pogosta disease is a viral disease. The symptoms of the disease usually include rash, as well as mild fever and other flu-like symptoms; in most cases the symptoms last less than 5 days. However, in some cases, the patients develop a painful arthritis. There are no known chemical agents available to treat the disease.
Medical condition |
Lace bite is an irritation of the tibialis anterior and toe extensor tendons. The medical term for the condition is "tibialis anterior tendinopathy." This irritation, felt on the front of the foot or ankle, is often experienced by ice hockey players and figure skaters. It is caused by friction between the tendon and tongue of the ice skate.
Sports injury |
A skin infection is an infection of the skin in humans and other animals, that can also affect the associated soft tissues such as loose connective tissue and mucous membranes. They comprise a category of infections termed skin and skin structure infections (SSSIs), or skin and soft tissue infections (SSTIs), and acute bacterial SSSIs (ABSSSIs). They are distinguished from dermatitis, although skin infections can result in skin inflammation.
Infections of the skin |
Plasminogen, sold under the brand name Ryplazim, is a biologic medication for the treatment of hypoplasminogenemia. It is purified from human plasma and is administered intravenously. The most common side effects include abdominal pain, bloating, nausea, bleeding, limb pain, fatigue, constipation, dry mouth, headache, dizziness, joint pain, and back pain. Individuals with hypoplasminogenemia lack a protein called plasminogen, which is responsible for the ability of the body to break down fibrin clots. Plasminogen deficiency leads to an accumulation of fibrin, causing the development of growths (lesions) that can impair normal tissue and organ function and may lead to blindness when these lesions affect the eyes. Plasminogen, human-tvmh was approved for medical use in the United States in June 2021. It is the first therapy for hypoplasminogenemia approved by the U.S. Food and Drug Administration (FDA).
Medication for hypoplasminogenemia |
Solute carrier organic anion transporter family member 4C1 is a protein that in humans is encoded by the SLCO4C1 gene, which is located on chromosome 5q21. The OATP4C1 protein is expressed in the basolateral membrane of the nephron of the human kidney, where it is involved in the uptake of organic anions for elimination in the urine. The drug digoxin is an important substrate of this transporter.
Mammalian protein found in Homo sapiens |
Katie and Eilish Holton were Irish conjoined twins born to Mary and Liam Holton of Donadea, County Kildare. They were joined at the pelvis and the legs and were the subject of several newspaper articles and later a two-part television documentary. In 1992, the twins were surgically separated. Katie Holton did not recover from the operation, dying four days later. Eilish Holton was reportedly the inspiration for the name of Billie Eilish, according to the singer's parents.
Irish conjoined twins |
Lamivudine/nevirapine/stavudine (3TC/NVP/d4T) is a fixed-dose combination antiretroviral medication used to treat HIV/AIDS. It contains lamivudine, nevirapine, and stavudine. It is either used by itself or along with other antiretrovirals. It is taken by mouth twice a day. It is on the World Health Organization's List of Essential Medicines. As of 2015, it is not commercially available in the United States.
Combination drug for HIV |
Lamivudine/zidovudine, sold under the brand name Combivir among others, is a fixed-dose combination antiretroviral medication used to treat HIV/AIDS. It contains two antiretroviral medications, lamivudine and zidovudine. It is used together with other antiretrovirals. It is taken by mouth twice a day. Common side effects include headache, feeling tired, nausea, diarrhea, and fever. Severe side effects may include bone marrow suppression, muscle damage, worsening of hepatitis B if previously infected, high blood lactate and liver enlargement. It may be part of a recommended treatment during pregnancy. The medications are both of the nucleoside reverse transcriptase inhibitor (NRTI) class. They work by blocking the action of the enzyme, reverse transcriptase, that the virus requires to reproduce. Lamivudine/zidovudine was approved for medical use in the United States in 1997, and in the European Union in 1998. It is on the World Health Organization's List of Essential Medicines. It is available as a generic medication.
Combination drug for HIV |
A mammary tumor is a neoplasm originating in the mammary gland. It is a common finding in older female dogs and cats that are not spayed, but they are found in other animals as well. The mammary glands in dogs and cats are associated with their nipples and extend from the underside of the chest to the groin on both sides of the midline. There are many differences between mammary tumors in animals and breast cancer in humans, including tumor type, malignancy, and treatment options. The prevalence in dogs is about three times that of women. In dogs, mammary tumors are the second most common tumor over all and the most common tumor in female dogs with a reported incidence of 3.4%. Multiple studies have documented that spaying female dogs when young greatly decreases their risk of developing mammary neoplasia when aged. Compared with female dogs left intact, those spayed before puberty have 0.5% of the risk, those spayed after one estrous cycle have 8.0% of the risk, and dogs spayed after two estrous cycles have 26.0% of the risk of developing mammary neoplasia later in life. Overall, unspayed female dogs have a seven times greater risk of developing mammary neoplasia than do those that are spayed. While the benefit of spaying decreases with each estrous cycle, some benefit has been demonstrated in female dogs even up to 9 years of age. There is a much lower risk in male dogs and a risk in cats about half that of dogs. |
Loperamide/simethicone is combination medication sold under the brand name Imodium Multi-Symptom Relief used to treat diarrhea and gas simultaneously. It is manufactured by the McNeil Consumer Healthcare Division of McNeil PPC, Inc. It contains loperamide and simethicone. Loperamide is a μ-opioid receptor agonist that works in the intestines. Although it is an opioid, it has no effects on the central nervous system. It reduces diarrhea by slowing the transit time of contents through the intestinal tract thereby allowing more water to be reabsorbed from the intestinal lumen. Simethicone reduces gas by allowing smaller gas bubbles to coalesce into larger bubbles in the intestinal tract, making them easier to pass. Simethicone is not absorbed from the gastrointestinal tract so there are no systemic side effects.
Combination drug |
Neurophysin I is a carrier protein with a size of 10 KDa and contains 90 to 97 amino acids. It is a cleavage product of preprooxyphysin. It is a neurohypophysial hormone that is transported in vesicles with oxytocin, the other cleavage product, along axons, from magnocellular neurons of the hypothalamus to the posterior lobe of the pituitary. Although it is stored in neurosecretory granules with oxytocin and released with oxytocin, its biological action is unclear.
Cleavage product of the coding protein of OXT gene |
A rectovaginal fistula is a medical condition where there is a fistula or abnormal connection between the rectum and the vagina. Rectovaginal fistulae may be extremely debilitating. If the opening between the rectum and vagina is wide it will allow both flatulence and feces to escape through the vagina, leading to fecal incontinence. There is an association with recurrent urinary and vaginal infections. The fistula may also connect the rectum and urethra, which is called recto-urethral fistula. Either conditions can lead to labial fusion. This type of fistula can cause pediatricians to misdiagnose imperforate anus. The severity of the symptoms will depend on the size of fistula. Most often, it appears after about one week or so after childbirth.
Medical condition |
A mastocytoma in dogs is a neoplasm (neoplasia) originating from mast cells in the domestic dog, which occurs mainly in the skin and subcutis. Mastocytoma are not only extremely common in dogs, but also tend to be much more malignant in them than in other animal species. The average survival time for malignant tumors is only four months, whereas for benign tumors it is over two years. Mast cells are cells of the immune system that play a role in the innate immune response. They produce a number of biologically active substances, including primarily histamine. Mastocytoma account for about one-fifth of all skin tumors in dogs. They present as nodules or raised patches, and about one-fifth of affected animals have ulcers and bleeding in the stomach and duodenum. Metastasis in malignant mastocytoma occur primarily in lymph nodes, liver, spleen, and bone marrow. Any lump in the skin or subcutaneous tissue can be a mastocytoma. Detection is only possible by taking tissue with a fine needle followed by staining and microscopic examination (cytopathology). Although the classifications according to the clinical appearances and cell appearance in cytodiagnostics give indications of the biological behavior and thus the prospect of cure, this tumor disease is unpredictable and should be treated at an early stage. The treatment of choice is complete surgical removal, possibly combined with radiotherapy or chemotherapy. Tumors for which surgical removal is not possible or only incompletely possible can also be treated with tyrosine kinase inhibitors. Mastocytoma are also more common in domestic horses, ferrets, and domestic cats, but usually behave benignly in these species. In other animal species and in humans, mastocytomas are very rare.
Cancer tumor in dogs |
Neurophysin II is a carrier protein with a size of 19,687.3 Da and is made up of a dimer of two virtually identical chains of amino acids. Neurophysin II is a cleavage product of the AVP gene. It is a neurohypophysial hormone that is transported in vesicles with vasopressin, the other cleavage product, along axons, from magnocellular neurons of the hypothalamus to the posterior lobe of the pituitary. Although it is stored in neurosecretory granules with vasopressin and released with vasopressin into the bloodstream, its biological action is unclear. Neurophysin II is also known as a stimulator of prolactin secretion.
Cleavage product of the arginine vasopressin gene |
Peptide YY (PYY), also known as peptide tyrosine tyrosine, is a peptide that in humans is encoded by the PYY gene. Peptide YY is a short peptide released from cells in the ileum and colon in response to feeding. In the blood, gut, and other elements of periphery, PYY acts to reduce appetite; similarly, when injected directly into the central nervous system, PYY is also anorexigenic, i.e., it reduces appetite. Dietary fibers from fruits, vegetables, and whole grains, consumed, increase the speed of transit of intestinal chyme into the ileum, to raise PYY3-36, and induce satiety. Peptide YY cannot be produced as the result of enzymatic breakdown of crude fish proteins and ingested as a food product.
Peptide released from cells in the ileum and colon in response to feeding |
Purine nucleoside phosphorylase deficiency is a rare autosomal recessive metabolic disorder which results in immunodeficiency.
Medical condition |
Proventricular dilatation disease (PDD) is an incurable probably viral disease of psittacine birds. It was first recognized and described in 1978 by Dr. Hannis L. Stoddard. Since the first reported cases were involving species of macaw, the condition was termed macaw wasting syndrome. |
In pathology, hypertrophic decidual vasculopathy, abbreviated HDV, is the histomorphologic correlate of gestational hypertension, as may be seen in intrauterine growth restriction (IUGR) and HELLP syndrome. The name of the condition describes its appearance under the microscope; the smooth muscle of the decidual blood vessels is hypertrophic, i.e. the muscle part of the blood vessels feeding the placenta is larger due to cellular enlargement. |
Seasonal hyperacute panuveitis (SHAPU) is an aggressive eye disease of unknown etiology, first described in 1975. It has been recorded almost exclusively from Nepal, with the exception of five cases reported from Bhutan. The disease affects prevalently children and can cause blindness. In Nepal, it is the most common reported cause of panuveitis, and in children it is the most prevalent cause of both uveitis and panuveitis.
Eye disease |
X-linked recessive chondrodysplasia punctata is a type of chondrodysplasia punctata that can involve the skin, hair, and cause short stature with skeletal abnormalities, cataracts, and deafness. This condition is also known as arylsulfatase E deficiency, CDPX1, and X-linked recessive chondrodysplasia punctata 1. The syndrome rarely affects females, but they can be carriers of the recessive allele. Although the exact number of people diagnosed with CDPX1 is unknown, it was estimated that 1 in 500,000 have CDPX1 in varying severity. This condition is not linked to a specific ethnicity. The mutation that leads to a deficiency in arylsulfatase L (ARSL) occurs in the coding region of the gene. Absence of stippling, deposits of calcium, of bones and cartilage, shown on x-ray, does not rule out chondrodysplasia punctata or a normal chondrodysplasia punctata 1 (CDPX1) gene without mutation. Stippling of the bones and cartilage is rarely seen after childhood. Phalangeal abnormalities are important clinical features to look for once the stippling is no longer visible. Other, more severe, clinical features include respiratory abnormalities, hearing loss, cervical spine abnormalities, delayed cognitive development, ophthalmologic abnormalities, cardiac abnormalities, gastroesophageal reflux, and feeding difficulties. CDPX1 actually has a spectrum of severity; different mutations within the CDPX1 gene have different effects on the catalytic activity of the ARSL protein. The mutations vary between missense, nonsense, insertions, and deletions.
Medical condition |
Tunicamycin is a mixture of homologous nucleoside antibiotics that inhibits the UDP-HexNAc: polyprenol-P HexNAc-1-P family of enzymes. In eukaryotes, this includes the enzyme GlcNAc phosphotransferase (GPT), which catalyzes the transfer of N-acetylglucosamine-1-phosphate from UDP-N-acetylglucosamine to dolichol phosphate in the first step of glycoprotein synthesis. Tunicamycin blocks N-linked glycosylation (N-glycans) and treatment of cultured human cells with tunicamycin causes cell cycle arrest in G1 phase. It is used as an experimental tool in biology, e.g. to induce unfolded protein response. Tunicamycin is produced by several bacteria, including Streptomyces clavuligerus and Streptomyces lysosuperificus. Tunicamycin homologues have varying molecular weights owing to the variability in fatty acid side chain conjugates.
Chemical compound |
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