Chemotherapy-induced thrombocytopenia (CIT) is a common condition that frequently results in reduced chemotherapy dosages, postponed treatment, bleeding, and unfavorable oncological outcomes. At present, there is no clear suggestions for preventing or treating CIT
Cherubism is a disorder characterized by abnormal bone tissue in the lower part of the face. Beginning in early childhood, both the lower jaw (the mandible) and the upper jaw (the maxilla) become enlarged as bone is replaced with painless, cyst-like growths. These growths give the cheeks a swollen, rounded appearance and often interfere with normal tooth development. In some people the condition is so mild that it may not be noticeable, while other cases are severe enough to cause problems with vision, breathing, speech, and swallowing. Enlargement of the jaw usually continues throughout childhood and stabilizes during puberty
Porphyrias are inborn errors of metabolism in which specific enzyme defects exist in the heme synthesis pathway. Chester porphyria is a unique type of porphyria, with the clinical picture of acute intermittent porphyria (AIP) and the biochemical defects of both acute intermittent porphyria and variegate porphyria (VP)
A rare condition where galactorrhea and amenorrhea continues for an abnormal length of time (generally longer than 6 months) after giving birth.
Chikungunya virus (CHIKV) (in the Makonde language "that which bends up") is an insect-borne virus, of the genus, Alphavirus, that is transmitted to humans by virus-carrying Aedes mosquitoes. There have been recent outbreaks of CHIKV associated with severe morbidity. CHIKV causes an illness with symptoms similar to dengue fever. CHIKV manifests itself with an acute febrile phase of the illness lasts only two to five days, followed by a prolonged arthralgic disease that affects the joints of the extremities. The pain associated with CHIKV infection of the joints persists for weeks or months.
Ichthyosis refers to a relatively uncommon group of skin disorders characterized by the presence of excessive amounts of dry surface scales. It is regarded as a disorder of keratinization or cornification, and it is due to abnormal epidermal differentiation or metabolism. The ichthyosiform dermatoses may be classified according to clinical manifestations, genetic presentation, and histologic findings. Inherited and acquired forms of ichthyosis have been described, and ocular alterations may occur in specific subtypes.
Childhood disintegrative disorder (CDD), also known as Heller's syndrome and disintegrative psychosis, is a rare condition characterized by late onset (>3 years of age) of developmental delays in language, social function, and motor skills. Researchers have not been successful in finding a cause for the disorder.
Childhood interstitial lung disease, or chILD, is a broad term for a group of rare lung diseases that can affect babies, children, and teens. These diseases have some similar symptoms, such as chronic cough, rapid breathing, and shortness of breath.
These diseases also harm the lungs in similar ways. For example, they damage the tissues that surround the lungs' alveoli and bronchial tubes. Sometimes these diseases directly damage the air sacs and airways.
The various types of chILD can decrease lung function, reduce blood oxygen levels, and disturb the breathing process.
Childhood-onset cerebral adrenoleukodystrophy (also known as Cerebral Adrenoleukodystropy, CALD) is a rare X-linked, genetic disorder, affecting boys between 4-10 years old. CALD is caused by a buildup of very long chain fatty acids (VLCFAs). This buildup damages the fatty covering of the nerve and brain cells (myelin). When myelin breaks down, the nervous system has a hard time sending messages.
Childhood-onset schizophrenia (COS) is a severe mental illness that occurs in an estimated 1 in 40,000 children. By definition COS is schizophrenia that has an onset of psychosis before age 13. For COS the average age at onset is 9. Due to the rarity of this disorder very few psychiatrists have ever seen a COS case. A psychiatrist not familiar with COS may well spend many months testing medications on a child with a first psychotic episode and not reach the correct diagnosis. It is only in the past decade that COS has come to be recognized as a distinct childhood mental disorder by the medical community.
A very rare syndrome characterized mainly by finger and toe abnormalities, unusual facial features and narrowed airways.
This syndrome is characterised by the association of Pierre Robin sequence (retrognathia, cleft palate and glossoptosis) with facial dysmorphism (high forehead with frontal bossing) and digital anomalies (tapering fingers, hyperconvex nails, clinodactyly of the fifth fingers and short distal phalanges, finger-like thumbs and easily subluxated first metacarpophalangeal joints). It has been described in two half brothers born to the same mother. Growth and mental development were normal.
A rare birth disorder characterized mainly by brain abnormalities, large head and facial anomalies
A very rare syndrome characterized by short stature (due to abnormal development of ends of thigh bones), deafness, blocked tear ducts and thing bone abnormalities.
A very rare syndrome characterized mainly by fractures, bowed shin bones, abnormal forearm bone (radius) and reduced bone mass.
A rare birth disorder characterized by choanal atresia (narrowing or blockage of nasal airway), deafness, heart defects and facial anomalies.
Cholecystitis occurs when the gallbladder wall and nearby abdominal lining becomes inflamed. In 90% of cases, cholecystitis is caused by a gallstone in the cystic duct, the duct that connects the gallbladder to the hepatic duct. Gallstones are frequently the cause of inflammation.
A rare disorder characterized by the dilation of a portion of the biliary system and hand malformation
An inherited enzyme deficiency (UDP glucoronyl transferase) which causes periodic mild jaundice, abdominal pain, weakness and fatigue.
Cholera (also knowen as Asiatic Cholera, and Epidemic Cholera) is an infection of the small intestine by some strains of the bacterium Vibrio cholerae. Symptoms may range from none, to mild, to severe. The classic symptom is large amounts of watery diarrhea that lasts a few days. Vomiting and muscle cramps may also occur. Diarrhea can be so severe that it leads within hours to severe dehydration and electrolyte imbalance. This may result in sunken eyes, cold skin, decreased skin elasticity, and wrinkling of the hands and feet. The dehydration may result in the skin turning bluish. Symptoms start two hours to five days after exposure.
Cholera is caused by a number of types of Vibrio cholerae, with some types producing more severe disease than others. It is spread mostly by unsafe water and unsafe food that has been contaminated with human feces containing the bacteria. Undercooked seafood is a common source. Humans are the only animal affected. Risk factors for the disease include poor sanitation, not enough clean drinking water, and poverty. There are concerns that rising sea levels will increase rates of disease. Cholera can be diagnosed by a stool test. A rapid dipstick test is available but is not as accurate.
Prevention involves improved sanitation and access to clean water. Cholera vaccines that are given by mouth provide reasonable protection for about six months. They have the added benefit of protecting against another type of diarrhea caused by E. coli. The primary treatment is oral rehydration therapy—the replacement of fluids with slightly sweet and salty solutions. Rice-based solutions are preferred. Zinc supplementation is useful in children. In severe cases, intravenous fluids, such as Ringer's lactate, may be required, and antibiotics may be beneficial. Testing to see which antibiotic the cholera is susceptible to can help guide the choice.
Cholera affects an estimated 3–5 million people worldwide and causes 58,000–130,000 deaths a year as of 2010. While it is currently classified as a pandemic, it is rare in the developed world. Children are mostly affected. Cholera occurs as both outbreaks and chronically in certain areas. Areas with an ongoing risk of disease include Africa and south-east Asia. While the risk of death among those affected is usually less than 5%, it may be as high as 50% among some groups who do not have access to treatment. Historical descriptions of cholera are found as early as the 5th century BC in Sanskrit. The study of cholera by John Snow between 1849 and 1854 led to significant advances in the field of epidemiology.
Cholestasis is a condition where bile cannot flow from the liver to the duodenum. Bile formation is a secretory function of the liver. It begins in bile canaliculi that form between two adjacent surfaces of liver cells (hepatocytes) similar to the terminal branches of a tree. The canaliculi join each other to form larger and larger structures, sometimes referred to as Canals of Hering, which themselves join to form small bile ductules that have an epithelial surface.
A rare syndrome characterized by degeneration of retinal pigments, cleft lip, cleft palate, kidney problems and cholestasis (bile flow obstruction).
Benign recurrent intrahepatic cholestasis (BRIC) a rare form of hereditary cholestasis syndrome characterized by repeated self limited episodes of pruritus and jaundice. It recurs but occasionally leads to progressive liver disease. Treatment is symptomatic
A rare liver disorder characterized by intermittent episodes of cholestasis (impaired bile flow within the liver) that doesn't involve obstruction of bile ducts outside the liver. The jaundice tends to disappear in weeks or months without treatment and the condition does not lead to liver failure. Type 2 is caused by a defect on the ABCB11 gene on chromosome 2q24
A very rare syndrome characterized by liver and kidney problems.
The demonstration of a defect of cholesterol esterification in a mutant strain of BALB/c mice with an attendant reduction of sphingomyelinase activity prompted us to examine the capacity of cultured human Niemann-Pick fibroblasts to esterify exogenously derived cholesterol. Cholesterol was supplied to cell cultures in the form of native or chemically modified, positively charged low density lipoprotein or as non-lipoprotein cholesterol.
cholesterol a eukaryotic sterol that in higher animals is the precursor of bile acids and steroid hormones and a key constituent of cell membranes. Most is synthesized by the liver and other tissues, but some is absorbed from dietary sources, with each kind transported in the plasma by specific lipoproteins. It can accumulate or deposit abnormally, as in some gallstones and in atheromas. Preparations are used as emulsfiers in pharmaceuticals.
Also known as Late Onset Lysosomal Acid Lipase (LAL) Deficiency, CESD is an inherited disease that affects children (usually greater than 2 years old), adolescents and adults. In this disease, the body is missing an enzyme that breaks down fats (also known as lipids). As a result, these fats build up throughout the body mostly in the liver, spleen and blood vessels. This build up can cause an enlarged liver, leading to liver failure, as well as an increased risk for heart attack and stroke. The missing enzyme is known as lysosomal acid lipase (LAL). For the rest of this entry, we will refer to the condition as LAL Deficiency, specifically its Late Onset form.
Chondroblastoma is a rare, benign, locally aggressive bone tumor that typically affects the epiphyses or apophyses of long bones. It is thought to arise from an outgrowth of immature cartilage cells (chondroblasts) from secondary ossification centers, originating from the epiphyseal plate or some remnant of it.
Chondroblastoma is very uncommon, accounting for only 1-2% of all bone tumors. It affects mostly children and young adults with most patients being in the second decade of life, or less than 20 years of age. Chondroblastoma shows a predilection towards the male sex, with a ratio of male to female patients of 2:1. The most commonly affected site is the femur, followed by the humerus and tibia. Less commonly affected sites include the talus and calcaneus of the foot and flat bones
A very rare genetic disorder characterized by progressive osteoarthritis which starts relatively early and is progressive. Joint damage is caused by deposits of crystals containing calcium.