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"Three-dimensional structure of an oncogene protein: catalytic domain of human c-H-ras p21". Science . 239 (888–893): 888–93. Bibcode : 1988Sci...239..888D . doi : 10.1126/science.2448879 .
RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia. Epidemiology Prevalence of this disorder is not known. It is extremely rare with fewer than 20 patients reported to date. Clinical description Age of onset of the clinical signs is invariably in infancy or early childhood. Most patients have atypical features such as elevated counts for cells of myeloid origin (monocytosis and granulocytosis) making their clinical presentation indistinguishable from juvenile myelomonocytic leukemia (JMML; see this term). Many patients undergo repeated bone marrow assessments showing normal cytogenetics despite dysplastic marrow morphology.
A number sign (#) is used with this entry because of evidence that RAS-associated autoimmune leukoproliferative disorder (RALD) is caused by somatic mutation in the NRAS gene (164790) or the KRAS gene (190070) on chromosome 12p12. One patient with somatic mutation in the NRAS gene has been reported. Description RAS-associated leukoproliferative disorder is characterized by lymphadenopathy, splenomegaly, and variable autoimmune phenomena, including autoimmune hemolytic anemia, idiopathic thrombocytopenic purpura, and neutropenia. Laboratory studies show an expansion of lymphocytes due to defective apoptosis, as well as significant autoantibodies. Some patients have recurrent infections, and there may be an increased risk of hematologic malignancy (summary by Oliveira, 2013 and Niemela et al., 2010).
A pregnant woman taking anti-seizure medication can enroll in this registry by calling 1-888-233-2334. You can read more about the registry on the North American AED (Antiepileptic Drug) Pregnancy Registry website .
All antiepileptic drugs are potential teratogens. Anticonvulsant treatment during pregnancy presents the challenge of balancing between optimal treatment for seizure control and possible harmful fetal effects. One of the best delineated examples of harmful fetal effects is the fetal valproate syndrome (FVS), comprising typical facial features, developmental delay, and a variety of malformations such as neural tube defects, cardiac and gastrourinary malformations, and limb defects (Winter et al., 1987; Ardinger et al., 1988; Clayton-Smith and Donnai, 1995). Malm et al. (2002) described 3 families in which all offspring, 3 children in 1 family and 2 in each of the other 2 families, were affected by FVS. Malm et al. (2002) published pictures illustrating the facial features of FVS: trigonocephaly, medial deficiency of eyebrows, broad nasal root, anteverted nares, shallow philtrum, and long and thin upper lip. In males with ornithine transcarbamylase (OTC) deficiency (311250), sodium valproate may precipitate acute liver failure (Tripp et al., 1981).
A rare teratogenic disease due to embryo/fetal exposure to valproic acid (VPA) and subsequently characterized by a distinct facial dysmorphism, congenital anomalies and developmental delay (especially in language and communication). Epidemiology Prevalence of fetal valproate syndrome (FVS) is unknown. An incidence of neural tube defects (NTDs) of 1-2% has been associated with the use of VPA during the first trimester of pregnancy (10-20 times the rate seen in the general population) while the incidence of congenital heart disease, neurodevelopmental delay and autism spectrum disorder (ASD) are estimated to be around 4 to 5 times higher than in the general population. Clinical description The majority of infants exposed to VPA in utero are born healthy. Intrauterine growth retardation is present in 10% of cases but postnatal growth is usually normal and general health is good.
A clinically heterogeneous form of idiopathic inflammatory myopathy characterized by myositis, arthralgia, Raynaud phenomenon, mechanic hands, interstitial lung disease (ILD), and serum autoantibodies to aminoacyl transfer RNA synthetases (anti-ARS). Epidemiology Prevalence and annual incidence are not known. AS syndrome represents a subset of polymyositis and dermatomyositis (PM, DM, see these terms), disorders which have estimated prevalence of about 1/4,650. About a quarter of these patients may have AS syndrome, providing a prevalence estimate of 1/25,000 - 1/33,000 worldwide. The disorder affects females twice as often as males. Clinical description The age of onset is highly variable with a mean of 50 years (range 19 to 82). ILD is one of the clinical hallmarks. Respiratory symptoms (shortness of breath, coughing, dysphagia) are found in 40-60% of patients at disease onset.
Antisynthetase syndrome is a chronic autoimmune condition that affects the muscles and various other parts of the body. The signs and symptoms can vary but may include muscle inflammation (myositis), polyarthritis (inflammation of many joints), interstitial lung disease , thickening and cracking of the hands, and Raynaud phenomenon . The exact underlying cause is unknown; however, the production of autoantibodies (antibodies that attack normal cells) that attack certain enzymes in the body called 'aminoacyl-tRNA synthetases' appears to be linked to the cause of the syndrome. These autoantibodies may arise after viral infections, or patients may have a genetic predisposition. Treatment is based on the signs and symptoms present in each person but may include corticosteroids, immunosuppressive medications, and/or physical therapy.
Aberrant subclavian artery is a rare vascular anomaly that is present from birth. It usually causes no symptoms and is often discovered as an incidental finding (such as through a barium swallow or echocardiogram ). Occasionally the anomaly causes swallowing difficulty (dysphagia lusoria). Swallowing symptoms in children may present as feeding difficulty and/or recurrent respiratory tract infection. When aberrant subclavian artery causes no symptoms, treatment is not needed.
Journal of Thrombosis and Haemostasis . 15 (5): 876–888. doi : 10.1111/jth.13655 . PMID 28211264 . ^ a b Neerman-Arbez M, de Moerloose P, Casini A (2016).
Complement factor I deficiency is a disorder that affects the immune system. People with this condition are prone to recurrent infections, including infections of the upper respiratory tract, ears, skin, and urinary tract. They may also contract more serious infections such as pneumonia, meningitis, and sepsis , which may be life-threatening. Some people with complement factor I deficiency have a kidney disorder called glomerulonephritis with isolated C3 deposits. Complement factor I deficiency can also be associated with autoimmune disorders such as rheumatoid arthritis or systemic lupus erythematosus (SLE).
A number sign (#) is used with this entry because complement factor I ('eye') deficiency (CFID) is caused by homozygous or compound heterozygous mutation in the gene encoding complement factor I (CFI; 217030) on chromosome 4q25. Description Hereditary deficiency of complement factor I is associated with a propensity to pyogenic infection and follows an autosomal recessive pattern of inheritance (Vyse et al., 1996). See also complement factor H deficiency (609814), which shows overlapping clinical features. Clinical Features Alper et al. (1970, 1970) and Abramson et al. (1971) reported a patient with increased susceptibility to infection and accelerated catabolism of C3 due to deficiency of the C3 inactivator. Alper et al. (1972) demonstrated that the C3 inactivator also acts as an inhibitor in the alternative complement pathway.
Immunodeficiency with factor I anomaly is a rare, genetic, primary immunodeficiency disease characterized by increased susceptibility to recurrent, usually severe, infections (particularly by Neisseria meningitidis , Haemophilus influenzae and Streptococcus pneumonia ), typically manifesting as otitis, sinusitis, bronchitis, pneumonia, and/or meningitis. Autoimmune disease (e.g. systemic lupus erythematosus, glomerulonephritis) and atypical hemolytic uremic syndrome may be associated. Laboratory serum analysis reveals, in addition to diminished or undetectable complement factor I, variably decreased complement C3, complement factor B and complement factor H.
Clinical Infectious Diseases . 29 (4): 888–911. doi : 10.1086/520454 . PMID 10589908 . ^ a b Page on website of CIGNA ^ Foucault C, Ranque S, Badiaga S (2006).
Overview Body lice are tiny insects, about the size of a sesame seed. Body lice live in your clothing and bedding and travel to your skin several times a day to feed on blood. The most common sites for bites are around the neck, shoulders, armpits, waist and groin — places where clothing seams are most likely to touch skin. Body lice are most common in crowded and unhygienic living conditions, such as refugee camps and shelters for homeless people. They can also spread from contact with an infected person's clothes. Body lice bites can spread certain types of diseases and can even cause epidemics.
Other rarer diseases affecting the pancreas may include pancreatic pseudocysts , exocrine pancreatic insufficiency , and pancreatic fistulas . [3] : 888–891 Pancreatic disease may present with or without symptoms. ... Pancreatic disease might be investigated using abdominal x-rays , MRCP or ERCP , CT scans , and through blood tests such as measurement of the amylase and lipase enzymes. [3] : 888–894 Gallbladder and biliary tract [ edit ] Diseases of the hepatobiliary system affect the biliary tract (also known as the biliary tree ), which secretes bile in order to aid digestion of fats.
Journal of Thrombosis and Haemostasis . 15 (5): 876–888. doi : 10.1111/jth.13655 . PMID 28211264 . ^ a b c d e f g h Casini A, de Moerloose P, Neerman-Arbez M (2016).
Familial dysfibrinogenemia is a coagulation disorder characterized by a bleeding tendency due to a functional anomaly of circulating fibrinogen. Epidemiology Prevalence is unknown but dysfibrinogenemia is more frequent than afibrinogenemia which has a prevalence of 1/1,000,000. Clinical description Most patients with dysfibrinogenemia are asymptomatic. The others may have mild bleeding symptoms or even thrombosis. Etiology The deficiency is due to various mutations in the FGA , FGB , or FGG genes. Genetic counseling Transmission is mainly autosomal dominant.
Dysfibrinogenemia is a coagulation (clotting) disorder characterized by having an abnormal form of fibrinogen. Fibrinogen is a protein produced by the liver which helps control bleeding by helping blood clots to form. Having abnormal fibrinogen results in defective clot formation and can cause an increased or decreased ability to clot. Dysfibrinogenemias may be inherited (congenital) or acquired. Congenital dysfibrinogenemia is rare. About 40% of people with this form have no symptoms. About 50% have a bleeding disorder , and the remaining 10% have either a thrombotic disorder (excessive clotting) or both bleeding and thrombotic disorders.
A number sign (#) is used with this entry because congenital dysfibrinogenemia is caused by mutation in one of the fibrinogen genes: alpha (FGA; 134820), beta (FGB; 134830), or gamma (FGG; 134850). It is most often caused by heterozygous mutation, but can also be caused by homozygous or compound heterozygous mutation. Congenital hypodysfibrinogenemia is caused by heterozygous, homozygous, or compound heterozygous mutation in one of the fibrinogen genes. Description Inherited disorders of fibrinogen affect either the quantity (afibrinogenemia and hypofibrinogenemia; 202400) or the quality (dysfibrinogenemia) of the circulating fibrinogen, or both (hypodysfibrinogenemia). Patients with dysfibrinogenemia are frequently asymptomatic, but some patients have bleeding diathesis, thromboembolic complications, or both (summary by de Moerloose and Neerman-Arbez, 2009).
A group of rare immunodeficiency-associated lymphoproliferative disorders characterized by lymphoid or plasmacytic proliferations developing in the context of immunosuppression in a recipient of a solid organ or stem cell allograft. The group includes non-destructive post-transplant lymphoproliferative disorders (PTLDs), polymorphic PTLD, monomorphic PTLDs, and classic Hodgkin lymphoma PTLD. Patients may have more than one type of PTLD in a single or in different locations. The most commonly involved sites are lymph nodes, gastrointestinal tract, lungs, and liver, although the disease may occur almost anywhere in the body. In solid organ transplant recipients, PTLD may also involve the allograft.
Specialty Infectious disease Symptoms None, severe swelling of the arms, legs, breasts, or genitals [2] Causes Filarial worms spread by mosquitos [3] Diagnostic method Microscopic examination of blood [4] Prevention Bed nets , mass deworming [2] Medication Albendazole with ivermectin or diethylcarbamazine [2] Frequency 38.5 million (2015) [5] Lymphatic filariasis is a human disease caused by parasitic worms known as filarial worms . [2] [3] Most cases of the disease have no symptoms . [2] Some people, however, develop a syndrome called elephantiasis , which is marked by severe swelling in the arms, legs, breasts , or genitals . [2] [6] The skin may become thicker as well, and the condition may become painful. [2] The changes to the body have the potential to harm the person's social and economic situation. [2] The worms are spread by the bites of infected mosquitoes . [2] Three types of worms are known to cause the disease: Wuchereria bancrofti , Brugia malayi , and Brugia timori , with Wuchereria bancrofti being the most common. [2] These worms damage the lymphatic system . [2] The disease is diagnosed by microscopic examination of blood collected during the night. [4] The blood is typically examined as a smear after being stained with Giemsa stain . [4] Testing the blood for antibodies against the disease may also permit diagnosis. [4] Other roundworms from the same family are responsible for river blindness . [7] Prevention can be achieved by treating entire groups in which the disease exists, known as mass deworming . [2] This is done every year for about six years, in an effort to rid a population of the disease entirely. [2] Medications used include antiparasitics such as albendazole with ivermectin , or albendazole with diethylcarbamazine . [2] The medications do not kill the adult worms but prevent further spread of the disease until the worms die on their own. [2] Efforts to prevent mosquito bites are also recommended, including reducing the number of mosquitoes and promoting the use of bed nets . [2] In 2015 about 38.5 million people were infected. [5] About 950 million people are at risk of the disease in 54 countries. [2] It is most common in tropical Africa and Asia. [2] Lymphatic filariasis is classified as a neglected tropical disease and one of the four main worm infections . [7] The impact of the disease results in economic losses of billions of dollars a year. [2] Contents 1 Signs and symptoms 2 Causes 3 Diagnosis 4 Prevention 5 Treatment 5.1 Anthelmintic 5.2 Antibiotics 5.3 Vaccine 5.4 Supportive treatments 6 Epidemiology 7 History 8 Research directions 9 References 10 External links Signs and symptoms [ edit ] The most spectacular symptom of lymphatic filariasis is elephantiasis , a stage 3 lymphedema with thickening of the skin and underlying tissues. ... Avoiding mosquito bites, such as by using insecticide -treated mosquito bed nets , also reduces the transmission of lymphatic filariasis. [19] [22] The Carter Center 's International Task Force for Disease Eradication declared lymphatic filariasis one of six potentially eradicable diseases. [19] According to medical experts, the worldwide effort to eliminate lymphatic filariasis is on track to potentially succeed by 2020. [23] For similar-looking but causally unrelated podoconiosis , international awareness of the disease will have to increase before elimination is possible. ... External links [ edit ] Classification D ICD - 10 : B74 ICD - 9-CM : 125.0 - 125.9 MeSH : D005368 External resources eMedicine : derm/888 v t e Eradication of infectious diseases Eradication of human diseases Successful Smallpox / Alastrim ( Eradication of smallpox ) Underway (global) Dracunculiasis ( Eradication of dracunculiasis ) Poliomyelitis ( Eradication of poliomyelitis ) Malaria ( Eradication of malaria ) Yaws ( Eradication of yaws ) Underway (regional) Hookworm Lymphatic filariasis Measles vaccine epidemiology Rubella Trachoma Onchocerciasis Syphilis Rabies Eradication of agricultural diseases Successful Rinderpest ( Eradication of rinderpest ) Underway Ovine rinderpest Bovine spongiform encephalopathy Eradication programs Global Global Polio Eradication Initiative Global Certification Commission Malaria Eradication Scientific Alliance Regional United States Boll Weevil Eradication Program National Malaria Eradication Program India India National PolioPlus Pulse Polio Poliomyelitis in Pakistan Every Last Child The Final Inch Related topics Globalization and disease Mathematical modelling of disease Pandemic Transmission horizontal vertical Vaccination Zoonosis
Lymphatic filariasis is a parasitic disease caused by microscopic, thread-like worms that only live in the human lymph system , which maintains the body's fluid balance and fights infections. It is spread from person to person by mosquitoes. Most infected people are asymptomatic and never develop clinical symptoms. A small percentage of people develop lymphedema , which may affect the legs, arms, breasts, and genitalia; bacterial infections that cause hardening and thickening of the skin, called elephantiasis; hydrocele (swelling of the scrotum) in men; and pulmonary tropical eosinophilia syndrome . Treatment may include a yearly dose of medicine, called diethylcarbamazine (DEC); while this drug does not kill all of the adult worms, it prevents infected people from giving the disease to someone else.
Lymphatic filariasis (LF) is a severe form of filariasis (see this term), caused by the parasitic worms Wuchereria bancrofti , Brugia malayi and Brugia timori , and the most common cause of acquired lymphedema worldwide. LF is endemic to tropical and subtropical regions. The vast majority of infected patients are asymptomatic but it can also cause a variety of clinical manifestations, including limb lymphedema, genital anomalies (hydrocele, chylocele), elephantiasis in later stages of the disease (frequently in the lower extremities), and tropical pulmonary eosinophilia (nocturnal paroxysmal cough and wheezing, weight loss, low-grade fever, adenopathy, and pronounced blood eosinophilia). Renal involvement (hematuria, proteinuria, nephritic syndrome, glomerulonephritis), and mono-arthritis of the knee or ankle joint have also been reported.
The Suicide & Crisis Lifeline in the U.S. has a Spanish-language phone line at 1-888-628-9454 (toll-free). Causes Adjustment disorders are caused by major changes or stressors in your life.
External links [ edit ] Classification D ICD - 10 : Q38.0 OMIM : 119300 606713 MeSH : C563529 C536528, C563529 DiseasesDB : 31926 External resources eMedicine : ped/2753 Orphanet : 888 v t e Medicine Specialties and subspecialties Surgery Cardiac surgery Cardiothoracic surgery Colorectal surgery Eye surgery General surgery Neurosurgery Oral and maxillofacial surgery Orthopedic surgery Hand surgery Otolaryngology ENT Pediatric surgery Plastic surgery Reproductive surgery Surgical oncology Transplant surgery Trauma surgery Urology Andrology Vascular surgery Internal medicine Allergy / Immunology Angiology Cardiology Endocrinology Gastroenterology Hepatology Geriatrics Hematology Hospital medicine Infectious disease Nephrology Oncology Pulmonology Rheumatology Obstetrics and gynaecology Gynaecology Gynecologic oncology Maternal–fetal medicine Obstetrics Reproductive endocrinology and infertility Urogynecology Diagnostic Radiology Interventional radiology Nuclear medicine Pathology Anatomical Clinical pathology Clinical chemistry Cytopathology Medical microbiology Transfusion medicine Other Addiction medicine Adolescent medicine Anesthesiology Dermatology Disaster medicine Diving medicine Emergency medicine Mass gathering medicine Family medicine General practice Hospital medicine Intensive care medicine Medical genetics Narcology Neurology Clinical neurophysiology Occupational medicine Ophthalmology Oral medicine Pain management Palliative care Pediatrics Neonatology Physical medicine and rehabilitation PM&R Preventive medicine Psychiatry Addiction psychiatry Radiation oncology Reproductive medicine Sexual medicine Sleep medicine Sports medicine Transplantation medicine Tropical medicine Travel medicine Venereology Medical education Medical school Bachelor of Medicine, Bachelor of Surgery Bachelor of Medical Sciences Master of Medicine Master of Surgery Doctor of Medicine Doctor of Osteopathic Medicine MD–PhD Related topics Alternative medicine Allied health Dentistry Podiatry Pharmacy Physiotherapy Molecular oncology Nanomedicine Personalized medicine Public health Rural health Therapy Traditional medicine Veterinary medicine Physician Chief physician History of medicine Book Category Commons Wikiproject Portal Outline
Van der Woude syndrome (VWS) is a rare congenital genetic dysmorphic syndrome characterized by paramedian lower-lip fistulae, cleft lip with or without cleft palate, or isolated cleft palate. Epidemiology The disorder represents the most common single-gene cause of cleft lip/cleft palate, i.e. 2% of all individuals with cleft lip/palate. Estimated incidence at birth is between 1/35,000 and 1/100,000 in European and Asian populations. Males and females are affected equally. Clinical description At birth, patients with VWS have one or more of the following dysmorphic features: paramedian lower-lip pits (fistulae, usually bilateral), small mounds with a sinus tract leading from a mucous gland of the lip, or cleft lip/cleft palate. Lip pits are the most common sign (>80%) and are mostly asymptomatic although dribbling and infection is possible.
Mapping Van der Woude syndrome-1 (VWS1; 119300), which maps to 1q32, is characterized by pits and/or sinuses of the lower lip, cleft lip/palate (CL/P), cleft palate (CP), bifid uvula, and hypodontia. The expression of VWS1, which has incomplete penetrance, is highly variable. Both the occurrence of CL/P and CP within the same kindred and a recurrence risk of less than 40% for CP among descendants with VWS suggested that the development of clefts in this syndrome is influenced by modifying genes at other loci. To test this hypothesis, Sertie et al. (1999) conducted linkage analysis in a large Brazilian kindred with VWS, considering as affected the individuals with CP, regardless of whether it was associated with other signs of VWS. The results suggested that a gene at chromosome 17p11.2-p11.1, together with the causative VWS1 gene at chromosome 1q32, enhances the probability of CP in an individual carrying the 2 at-risk genes.
Van der Woude syndrome is a condition that affects the development of the face. Many people with this disorder are born with a cleft lip and/or a cleft palate . Affected individuals usually have depressions (pits) near the center of the lower lip, which may appear moist due to the presence of salivary and mucous glands in the pits. Small mounds of tissue on the lower lip may also occur. In some cases, people with van der Woude syndrome have missing teeth. Growth and intelligence are usually normal. This condition is caused by mutations in the IRF6 gene and is inherited in a autosomal dominant fashion.
A number sign (#) is used with this entry because of evidence that van der Woude syndrome-2 (VWS2) is caused by heterozygous mutation in the GRHL3 gene (608317) on chromosome 1p36. Description Van der Woude syndrome (VWS) is a dominantly inherited developmental disorder characterized by pits and/or sinuses of the lower lip, and cleft lip and/or cleft palate (CL/P, CP). It is the most common cleft syndrome. For a discussion of genetic heterogeneity of van der Woude syndrome, see VWS1 (119300). Clinical Features Koillinen et al. (2001) studied a large Finnish pedigree with van der Woude syndrome in which the clinical features were typical for VWS with the exception that usually CL/P is twice as common as CP, but in this family, 9 of the 11 affected individuals had CP and only 1 had CL/P. In addition, only 1 affected family member exhibited lip pits, and he did not have clefting anomalies.
A number sign (#) is used with this entry because van der Woude syndrome-1 (VWS1) is caused by heterozygous mutation in the gene encoding interferon regulatory factor-6 (IRF6; 607199) on chromosome 1q32. Description Van der Woude syndrome (VWS) is a dominantly inherited developmental disorder characterized by pits and/or sinuses of the lower lip, and cleft lip and/or cleft palate (CL/P, CP). It is the most common cleft syndrome. Genetic Heterogeneity of van der Woude Syndrome Also see VWS2 (606713), caused by mutation in the GRHL3 gene (608317) on chromosome 1p36. Clinical Features In 3 generations of a family, Levy (1962) found malformations of the lower lip consisting of symmetrical lumps. Two sibs had cleft palate in addition to the lip anomaly. The literature on this syndrome was analyzed by van der Woude (1954), who found confirmation for the autosomal dominant mode of inheritance.
Van der Woude syndrome is a condition that affects the development of the face. Many people with this disorder are born with a cleft lip, a cleft palate (an opening in the upper lip or roof of the mouth), or both. Affected individuals usually have depressions (pits) near the center of the lower lip, which may appear moist due to the presence of salivary and mucous glands in the pits. Small mounds of tissue on the lower lip may also occur. In some cases, people with van der Woude syndrome have missing teeth. People with van der Woude syndrome who have cleft lip and/or palate, like other individuals with these facial conditions, have an increased risk of delayed language development, learning disabilities, or other mild cognitive problems.
Or contact the National Headache Foundation at www.headaches.org or 888-643-5552 . Preparing for your appointment You're likely to start by seeing your primary care provider.
