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Hypereosinophilic Syndrome
Wikipedia
Retrieved 12 May 2019 . ^ Chusid MJ, Dale DC, West BC, Wolff SM (1975). "The hypereosinophilic syndrome: analysis of fourteen cases with review of the literature". ... "Treatment of Patients with the Hypereosinophilic Syndrome with Mepolizumab" . The New England Journal of Medicine . 358 (12): 1215–28. doi : 10.1056/NEJMoa070812 . ... "Treatment of patients with the hypereosinophilic syndrome with mepolizumab" . N. Engl. J. ... Public summary of opinion on orphan designation: mepolizumab for the treatment of hypereosinophilic syndrome. August 2010. ^ Hardy, William R.; Anderson, Robert E. (1 June 1968). "The Hypereosinophilic syndromes". Annals of Internal Medicine . 68 (6): 1220–9. doi : 10.7326/0003-4819-68-6-1220 . eISSN 1539-3704 .
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Vestibulocerebellar Syndrome
Wikipedia
Find sources: "Vestibulocerebellar syndrome" – news · newspapers · books · scholar · JSTOR ( January 2019 ) Vestibulocerebellar syndrome Basal view of the human brain including the cerebellum Vestibulocerebellar syndrome , also known as vestibulocerebellar ataxia, is a progressive neurological disorder that causes a variety of medical problems. ... A failure in this reflex results in a variety of eye movement abnormalities, such as those exhibited in vestibulocerebellar syndrome. [8] Vestibulocerebellar syndrome has been categorized as an autosomal dominant neurological disorder although the specific effect on the vestibulocerebellum is unknown. ... To date, the molecular basis of vestibulocerebellar syndrome remains undefined. [2] Diagnosis [ edit ] This section is empty. ... "Vestibulocerebellar ataxia. A newly defined hereditary syndrome with periodic manifestations". ... "Acetazolamide-responsive vestibulocerebellar syndrome: clinical and oculographic features".
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Winter-Over Syndrome
Wikipedia
Winter-over syndrome Midday during a polar winter in Finnmark , Norway . ... Symptoms Depression, insomnia , hostility, anger/irritability, diminished cognitive performance, mild hypnotic states, irritable bowel syndrome Duration 7-8 months ( Polar winter ) Causes Psychological stresses and isolation at research stations in Antarctica and the Arctic in winter Treatment End of winter and/or departure from polar regions The winter-over syndrome is a condition that occurs in individuals who "winter-over" throughout the Antarctic (or Arctic) winter , which can last seven to eight months. [1] It has been observed in inhabitants of research stations in Antarctica , as well as in polar bases such as Thule , Alert and Eureka . ... It is completely cut off during winter, the mean temperature is −51 °C (−60 °F), and the lowest recorded temperature is −85 °C (−121 °F). [4] For these reasons, the immobility, monotony, harsh physical environment, sexual deprivation, and the general isolation, are believed to contribute to increased anxiety and depression among the residents of the station. [1] Several studies have been done over the years to determine the contributing causes, or stresses, of "winter-over" syndrome. These include stress , social isolation , subsyndromal seasonal affective disorder and polar T 3 syndrome . [5] [2] It would appear that the cold, danger, and hardships are not major stresses. ... "Association between the Polar T3 Syndrome and the Winter-Over Syndrome in Antarctica" . ... "Association between the Polar T 3 Syndrome and the Winter-Over Syndrome in Antarctica" .
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Platybasia
Wikipedia
Platybasia is also a feature of Gorlin-Goltz syndrome , commonly known as basal cell nevus syndrome. ... External links [ edit ] Classification D ICD - 10 : Q75.8 ICD - 9-CM : 756.0 MeSH : D010985 v t e Congenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality Appendicular limb / dysmelia Arms clavicle / shoulder Cleidocranial dysostosis Sprengel's deformity Wallis–Zieff–Goldblatt syndrome hand deformity Madelung's deformity Clinodactyly Oligodactyly Polydactyly Leg hip Hip dislocation / Hip dysplasia Upington disease Coxa valga Coxa vara knee Genu valgum Genu varum Genu recurvatum Discoid meniscus Congenital patellar dislocation Congenital knee dislocation foot deformity varus Club foot Pigeon toe valgus Flat feet Pes cavus Rocker bottom foot Hammer toe Either / both fingers and toes Polydactyly / Syndactyly Webbed toes Arachnodactyly Cenani–Lenz syndactylism Ectrodactyly Brachydactyly Stub thumb reduction deficits / limb Acheiropodia Ectromelia Phocomelia Amelia Hemimelia multiple joints Arthrogryposis Larsen syndrome RAPADILINO syndrome Axial Skull and face Craniosynostosis Scaphocephaly Oxycephaly Trigonocephaly Craniofacial dysostosis Crouzon syndrome Hypertelorism Hallermann–Streiff syndrome Treacher Collins syndrome other Macrocephaly Platybasia Craniodiaphyseal dysplasia Dolichocephaly Greig cephalopolysyndactyly syndrome Plagiocephaly Saddle nose Vertebral column Spinal curvature Scoliosis Klippel–Feil syndrome Spondylolisthesis Spina bifida occulta Sacralization Thoracic skeleton ribs : Cervical Bifid sternum : Pectus excavatum Pectus carinatum This article about a disease of musculoskeletal and connective tissue is a stub .
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Senior-Løken Syndrome
Medlineplus
Senior-Løken syndrome is a rare disorder characterized by the combination of two specific features: a kidney condition called nephronophthisis and an eye condition known as Leber congenital amaurosis. ... Frequency Senior-Løken syndrome is a rare disorder, with an estimated prevalence of about 1 in 1 million people worldwide. Only a few families with the condition have been described in the medical literature. Causes Senior-Løken syndrome can be caused by mutations in one of at least five genes. ... Mutations in the genes associated with Senior-Løken syndrome likely lead to problems with the structure and function of cilia. ... Learn more about the genes associated with Senior-Løken syndrome CEP290 NPHP1 WDR19 Additional Information from NCBI Gene: IQCB1 NPHP4 SDCCAG8 Inheritance Pattern This condition is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations.
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Hyperferritinemia-Cataract Syndrome
Medlineplus
Hyperferritinemia-cataract syndrome is a disorder characterized by an excess of an iron storage protein called ferritin in the blood (hyperferritinemia) and tissues of the body. ... Therefore, correct diagnosis of hyperferritinemia-cataract syndrome is important to avoid unnecessary treatments or invasive test procedures such as liver biopsies. Frequency Hyperferritinemia-cataract syndrome has been estimated to occur in 1 in 200,000 individuals. Causes Hyperferritinemia-cataract syndrome is caused by mutations in the FTL gene. ... The mutations that cause hyperferritinemia-cataract syndrome are found in a segment of the gene called the iron responsive element (IRE).
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Smith-Lemli-Opitz Syndrome
Medlineplus
Smith-Lemli-Opitz syndrome is a developmental disorder that affects many parts of the body. ... The signs and symptoms of Smith-Lemli-Opitz syndrome vary widely. Mildly affected individuals may have only minor physical abnormalities with learning and behavioral problems. Severe cases can be life-threatening and involve profound intellectual disability and major physical abnormalities. Frequency Smith-Lemli-Opitz syndrome affects an estimated 1 in 20,000 to 60,000 newborns. ... It is very rare among African and Asian populations. Causes Smith-Lemli-Opitz syndrome is caused by mutations in the DHCR7 gene, which provides instructions for making an enzyme called 7-dehydrocholesterol reductase. ... It is not completely understood, however, how either abnormality leads to the specific features of Smith-Lemli-Opitz syndrome. Learn more about the gene associated with Smith-Lemli-Opitz syndrome DHCR7 Inheritance Pattern This condition is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations.
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Hypertension And Brachydactyly Syndrome
Wikipedia
Please introduce links to this page from related articles ; try the Find link tool for suggestions. ( March 2017 ) Hypertension and brachydactyly syndrome Other names Brachydactyly-arterial hypertension syndrome This condition is inherited in an autosomal dominant manner. Hypertension and brachydactyly syndrome (HTNB) also known as Bilginturan syndrome and brachydactyly type E among others is a very rare genetic disorder. [1] [2] It was first reported in 1973 by N. ... You can help by adding to it . ( January 2018 ) References [ edit ] ^ a b "HYPERTENSION AND BRACHYDACTYLY SYNDROME; HTNB" . www.omim.org . Retrieved 2017-01-19 . ^ a b "Brachydactyly arterial hypertension syndrome" . www.orpha.net . ... "Brachydactyly-short stature-hypertension (Bilginturan) syndrome: report on two families". American Journal of Medical Genetics . 73 (3): 279–285. doi : 10.1002/(SICI)1096-8628(19971219)73:3<279::AID-AJMG10>3.0.CO;2-G .
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Immune Dysregulation
Wikipedia
Immune system dysfunction, as seen in IPEX syndrome leads to immune dysfunction, polyendocrinopathy, enteropathy, X-linked (IPEX). IPEX typically presents during the first few months of life with diabetes mellitus, intractable diarrhea, failure to thrive, eczema, and hemolytic anemia. unrestrained or unregulated immune response. [1] Contents 1 IPEX syndrome 2 Other genetic syndromes associated with immune dysregulation 2.1 APECED 2.2 Omenn syndrome 2.3 Wiskott-Aldrich syndrome 3 T-cell immunodefficiency 4 Immune dysregulation associated with stress 5 Aging of the immune system 6 Dysregulation of the immune system in response to toxins 7 References IPEX syndrome [ edit ] IPEX (Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome) is a syndrome caused by a genetic mutation in the FOXP3 gene, [2] [3] [4] which encodes a major transcription factor of regulatory T cells (Tregs). ... APECED causes loss of central immune tolerance. [5] Omenn syndrome [ edit ] Omenn syndrome manifests as GVHD ( graft versus host disease )-like autoimmune disease . ... The number of immune cells is usually normal in this syndrome , but functionality is reduced [6] Wiskott-Aldrich syndrome [ edit ] Wiskott-Aldrich syndrome is caused by a mutation in the WAS gene . ... "Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations" .
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Hematologic Disease
Wikipedia
Contents 1 Myeloid 2 Hematological malignancies 3 Miscellaneous 4 Hematological changes secondary to non-hematological disorders 5 References 6 External links Myeloid [ edit ] Hemoglobinopathies (congenital abnormality of the hemoglobin molecule or of the rate of hemoglobin synthesis) Sickle cell disease Thalassemia Methemoglobinemia Anemias (lack of red blood cells or hemoglobin) Iron-deficiency anemia Megaloblastic anemia Vitamin B 12 deficiency Pernicious anemia Folate deficiency Hemolytic anemias (destruction of red blood cells ) Genetic disorders of RBC membrane Hereditary spherocytosis Hereditary elliptocytosis Congenital dyserythropoietic anemia Genetic disorders of RBC metabolism Glucose-6-phosphate dehydrogenase deficiency (G6PD) Pyruvate kinase deficiency Immune mediated hemolytic anemia ( direct Coombs test is positive) Autoimmune hemolytic anemia Warm antibody autoimmune hemolytic anemia Idiopathic Systemic lupus erythematosus (SLE) Evans syndrome (antiplatelet antibodies and hemolytic antibodies) Cold autoimmune hemolytic anemia Cold agglutinin disease Paroxysmal cold hemoglobinuria (rare) Infectious mononucleosis Alloimmune hemolytic anemia Hemolytic disease of the newborn (HDN) Rh disease (Rh D) ABO hemolytic disease of the newborn Anti-Kell hemolytic disease of the newborn Rhesus c hemolytic disease of the newborn Rhesus E hemolytic disease of the newborn Other blood group incompatibility (RhC, Rhe, Kid, Duffy, MN, P and others) Drug induced immune mediated hemolytic anemia Penicillin (high dose) Methyldopa Hemoglobinopathies (where these is an unstable or crystalline hemoglobin) Paroxysmal nocturnal hemoglobinuria (rare acquired clonal disorder of red blood cell surface proteins) Direct physical damage to RBCs Microangiopathic hemolytic anemia Secondary to artificial heart valve (s) Aplastic anemia Fanconi anemia Diamond–Blackfan anemia (inherited pure red cell aplasia) Acquired pure red cell aplasia Decreased numbers of cells Myelodysplastic syndrome Myelofibrosis Neutropenia (decrease in the number of neutrophils ) Agranulocytosis Glanzmann's thrombasthenia Thrombocytopenia (decrease in the number of platelets ) Idiopathic thrombocytopenic purpura (ITP) Thrombotic thrombocytopenic purpura (TTP) Heparin-induced thrombocytopenia (HIT) Myeloproliferative disorders (Increased numbers of cells) Polycythemia vera (increase in the number of cells in general) Erythrocytosis (increase in the number of red blood cells ) Leukocytosis (increase in the number of white blood cells ) Thrombocytosis (increase in the number of platelets ) Myeloproliferative disorder Transient myeloproliferative disease Coagulopathies (disorders of bleeding and coagulation ) Thrombocytosis Recurrent thrombosis Disseminated intravascular coagulation Disorders of clotting proteins Hemophilia Hemophilia A Hemophilia B (also known as Christmas disease ) Hemophilia C Von Willebrand disease Disseminated intravascular coagulation Protein S deficiency Antiphospholipid syndrome Disorders of platelets Thrombocytopenia Glanzmann's thrombasthenia Wiskott–Aldrich syndrome Hematological malignancies [ edit ] Hematological malignancies Lymphomas Hodgkin's disease Non-Hodgkin's lymphoma {includes the next five entries} Burkitt's lymphoma Anaplastic large cell lymphoma Splenic marginal zone lymphoma Hepatosplenic T-cell lymphoma Angioimmunoblastic T-cell lymphoma (AILT) Myelomas Multiple myeloma Waldenström macroglobulinemia Plasmacytoma Leukemias increased WBC Acute lymphocytic leukemia (ALL) Chronic lymphocytic leukemia (CLL){now included in theCLL/SCLL type NHL} Acute myelogenous leukemia (AML) Acute megakaryoblastic leukemia (AMKL), a sub-type of acute myelogenous leukemia Chronic Idiopathic Myelofibrosis (MF) Chronic myelogenous leukemia (CML) T-cell prolymphocytic leukemia (T-PLL) B-cell prolymphocytic leukemia (B-PLL) Chronic neutrophilic leukemia (CNL) Hairy cell leukemia (HCL) T-cell large granular lymphocyte leukemia (T-LGL) Aggressive NK-cell leukemia Miscellaneous [ edit ] Hemochromatosis Asplenia Hypersplenism Gaucher's disease Monoclonal gammopathy of undetermined significance Hemophagocytic lymphohistiocytosis Tempi syndrome Hematological changes secondary to non-hematological disorders [ edit ] Anemia of chronic disease Infectious mononucleosis AIDS Malaria Leishmaniasis References [ edit ] External links [ edit ] https://web.archive.org/web/20100527085120/http://hematologic.niddk.nih.gov/info/index.htm Classification D MeSH : D006402 v t e Diseases of red blood cells ↑ Polycythemia Polycythemia vera ↓ Anemia Nutritional Micro- : Iron-deficiency anemia Plummer–Vinson syndrome Macro- : Megaloblastic anemia Pernicious anemia Hemolytic (mostly normo- ) Hereditary enzymopathy : Glucose-6-phosphate dehydrogenase deficiency glycolysis pyruvate kinase deficiency triosephosphate isomerase deficiency hexokinase deficiency hemoglobinopathy : Thalassemia alpha beta delta Sickle cell disease / trait Hereditary persistence of fetal hemoglobin membrane : Hereditary spherocytosis Minkowski–Chauffard syndrome Hereditary elliptocytosis Southeast Asian ovalocytosis Hereditary stomatocytosis Acquired AIHA Warm antibody autoimmune hemolytic anemia Cold agglutinin disease Donath–Landsteiner hemolytic anemia Paroxysmal cold hemoglobinuria Mixed autoimmune hemolytic anemia membrane paroxysmal nocturnal hemoglobinuria Microangiopathic hemolytic anemia Thrombotic microangiopathy Hemolytic–uremic syndrome Drug-induced autoimmune Drug-induced nonautoimmune Hemolytic disease of the newborn Aplastic (mostly normo- ) Hereditary : Fanconi anemia Diamond–Blackfan anemia Acquired: Pure red cell aplasia Sideroblastic anemia Myelophthisic Blood tests Mean corpuscular volume normocytic microcytic macrocytic Mean corpuscular hemoglobin concentration normochromic hypochromic Other Methemoglobinemia Sulfhemoglobinemia Reticulocytopenia v t e Disorders of bleeding and clotting Coagulation · coagulopathy · Bleeding diathesis Clotting By cause Clotting factors Antithrombin III deficiency Protein C deficiency Activated protein C resistance Protein S deficiency Factor V Leiden Prothrombin G20210A Platelets Sticky platelet syndrome Thrombocytosis Essential thrombocythaemia DIC Purpura fulminans Antiphospholipid syndrome Clots Thrombophilia Thrombus Thrombosis Virchow's triad Trousseau sign of malignancy By site Deep vein thrombosis Bancroft's sign Homans sign Lisker's sign Louvel's sign Lowenberg's sign Peabody's sign Pratt's sign Rose's sign Pulmonary embolism Renal vein thrombosis Bleeding By cause Thrombocytopenia Thrombocytopenic purpura : ITP Evans syndrome TM TTP Upshaw–Schulman syndrome Heparin-induced thrombocytopenia May–Hegglin anomaly Platelet function adhesion Bernard–Soulier syndrome aggregation Glanzmann's thrombasthenia platelet storage pool deficiency Hermansky–Pudlak syndrome Gray platelet syndrome Clotting factor Haemophilia A/VIII B/IX C/XI von Willebrand disease Hypoprothrombinemia/II Factor VII deficiency Factor X deficiency Factor XII deficiency Factor XIII deficiency Dysfibrinogenemia Congenital afibrinogenemia Signs and symptoms Bleeding Bruise Haematoma Petechia Purpura Nonthrombocytopenic purpura By site head Epistaxis Haemoptysis Intracranial haemorrhage Hyphaema Subconjunctival haemorrhage torso Haemothorax Haemopericardium Pulmonary haematoma abdomen Gastrointestinal bleeding Haemobilia Haemoperitoneum Haematocele Haematosalpinx joint Haemarthrosis v t e Diseases of monocytes and granulocytes Monocytes and macrophages ↑ -cytosis : Monocytosis Histiocytosis Chronic granulomatous disease ↓ -penia : Monocytopenia Granulocytes ↑ -cytosis : granulocytosis Neutrophilia Eosinophilia / Hypereosinophilic syndrome Basophilia Bandemia ↓ -penia : Granulocytopenia/agranulocytosis ( Neutropenia / Severe congenital neutropenia / Cyclic neutropenia Eosinopenia Basopenia ) Disorder of phagocytosis Chemotaxis and degranulation Leukocyte adhesion deficiency LAD1 LAD2 Chédiak–Higashi syndrome Neutrophil-specific granule deficiency Respiratory burst Chronic granulomatous disease Neutrophil immunodeficiency syndrome Myeloperoxidase deficiency v t e Conditions originating in the perinatal period / fetal disease Maternal factors complicating pregnancy, labour or delivery placenta Placenta praevia Placental insufficiency Twin-to-twin transfusion syndrome chorion / amnion Chorioamnionitis umbilical cord Umbilical cord prolapse Nuchal cord Single umbilical artery presentation Breech birth Asynclitism Shoulder presentation Growth Small for gestational age / Large for gestational age Preterm birth / Postterm pregnancy Intrauterine growth restriction Birth trauma scalp Cephalohematoma Chignon Caput succedaneum Subgaleal hemorrhage Brachial plexus injury Erb's palsy Klumpke paralysis Affected systems Respiratory Intrauterine hypoxia Infant respiratory distress syndrome Transient tachypnea of the newborn Meconium aspiration syndrome Pleural disease Pneumothorax Pneumomediastinum Wilson–Mikity syndrome Bronchopulmonary dysplasia Cardiovascular Pneumopericardium Persistent fetal circulation Bleeding and hematologic disease Vitamin K deficiency bleeding HDN ABO Anti-Kell Rh c Rh D Rh E Hydrops fetalis Hyperbilirubinemia Kernicterus Neonatal jaundice Velamentous cord insertion Intraventricular hemorrhage Germinal matrix hemorrhage Anemia of prematurity Gastrointestinal Ileus Necrotizing enterocolitis Meconium peritonitis Integument and thermoregulation Erythema toxicum Sclerema neonatorum Nervous system Perinatal asphyxia Periventricular leukomalacia Musculoskeletal Gray baby syndrome muscle tone Congenital hypertonia Congenital hypotonia Infections Vertically transmitted infection Neonatal infection rubella herpes simplex mycoplasma hominis ureaplasma urealyticum Omphalitis Neonatal sepsis Group B streptococcal infection Neonatal conjunctivitis Other Miscarriage Perinatal mortality Stillbirth Infant mortality Neonatal withdrawal
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Restless Legs Syndrome, Susceptibility To, 8
Omim
Description Restless legs syndrome (RLS) is a neurologic sleep/wake disorder characterized by uncomfortable and unpleasant sensations in the legs that appear at rest, usually at night, inducing an irresistible desire to move the legs. ... For additional information and a discussion of heterogeneity of restless legs syndrome, see RLS1 (102300). Mapping Weissbach et al. (2012) performed genomewide linkage analysis in a 4-generation pedigree segregating autosomal dominantly inherited restless legs syndrome. ... There was significant enrichment for rare missense variants in the PCDHA3 gene in individuals with restless legs syndrome versus unaffected individuals (3.1% versus 0.4%). Weissbach et al. (2012) were careful to suggest that their findings were hypothesis-generating rather than conclusive evidence for PCDHA3 as the cause of restless legs syndrome in these individuals.
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Fibrinolysis Syndrome
Wikipedia
Fibrinolysis syndrome Other names Defibrinating syndrome Fibrinolysis syndrome is characterized by an acute hemorrhagic state brought about by inability of the blood to clot, with massive hemorrhages into the skin producing blackish, purplish swellings and sloughing. [1] : 826 Contents 1 Symptoms 2 Cause 3 Diagnosis 4 Treatment 5 See also 6 References Symptoms [ edit ] Hemorrhages (this includes severe bleeding of any particular area. ... Cause [ edit ] The cause for Fibrinolysis syndrome, is the inability of the body to produce blood-coagulates to stop bleeding. ... J.; Wom, H. (1967). "The Defibrination Syndrome: Clinical Features and Laboratory Diagnosis".
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Polar T3 Syndrome
Wikipedia
Polar T 3 syndrome is a condition found in polar explorers , caused by a decrease in levels of the thyroid hormone T 3 . [1] [2] Its effects include forgetfulness , cognitive impairment and mood disturbances . It can exhibit itself in a fugue state known as the Antarctic stare . [3] [4] [5] It is regarded as one of the contributory causes of winter-over syndrome . [3] See Also [ edit ] Antarctica: A Year on Ice References [ edit ] ^ Reed HL, Silverman ED, Shakir KM, Dons R, Burman KD, O'Brian JT (April 1990). "Changes in serum triiodothyronine (T 3 ) kinetics after prolonged Antarctic residence: the polar T 3 syndrome". The Journal of Clinical Endocrinology and Metabolism . 70 (4): 965–974. doi : 10.1210/jcem-70-4-965 . ... "Association between the Polar T 3 Syndrome and the Winter-Over Syndrome in Antarctica" .
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Tropical Splenomegaly Syndrome
Wikipedia
Tropical splenomegaly syndrome , also known as hyperreactive malarial splenomegaly , occurs due immunological over-stimulation to repeated attacks of malarial infection over a long period of time. [1] Condition is usually seen in malaria-endemic areas like Africa and Indian subcontinent. [2] Tropical Splenomegaly Syndrome is characterized by massive splenomegaly , hepatomegaly , marked elevations in levels of serum IgM and anti-malarial antibodies. ... The treatment of tropical splenomegaly syndrome involve administration of antimalarial drug followed by prophylaxis for prolonged periods of time. ... References [ edit ] Greenwood B, Fakunle Y. The tropical splenomegaly syndrome. In: The role of the spleen in the immunology of parasitic disease. ... Neelam Raval, Neela Shah and S. N. Vani: Tropical splenomegaly syndrome, Indian Journal of Pediatrics, Volume 58, Number 5, 679–681, doi : 10.1007/BF02820190
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Tonic Tensor Tympani Syndrome
Wikipedia
Tonic tensor tympani syndrome Other names TTTS Tonic tensor tympani syndrome is a disease of the tensor tympani muscle , described by Klochoff et al in 1971. [1] [2] It involves a decrease in the contraction threshold of the tensor tympani. ... Impedance fluctuation and a ‘‘Tensor Tympani Syndrome’’. In: Proceedings of the 4th International Symposium on Acoustic Measurements, Lisbon, 1979:69�76. ^ Klochoff, I. and Westerberg, C.E. ... Proceedings, Annual Meeting of Scandinavian Migraine Society "Forskning och Praktik" (Sandoz) Vol. 3, Suppl. 1, 1971 ^ Westcott M, Sanchez TG, Diges I, Saba C, Dineen R, McNeill C, Chiam A, O'Keefe M, Sharples T. Tonic tensor tympani syndrome in tinnitus and hyperacusis patients: a multi-clinic prevalence study. ... Impedance fluctuation and a "Tensor Tympani Syndrome". In: Proceedings of the 4th International Symposium on Acoustic Measurements, Lisbon, 1979:69�76.
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Oculocerebrocutaneous Syndrome
Wikipedia
Syndrome characterised by eye, central nervous system and skin malformations Oculocerebrocutaneous syndrome Other names Delleman–Oorthuys syndrome [1] Oculocerebrocutaneous syndrome is a condition characterized by orbital cysts, microphthalmia, porencephaly , agenesis of the corpus callosum, and facial skin tags. [1] Contents 1 Presentation 2 Genetics 3 Diagnosis 3.1 Differential diagnosis 4 Epidemiology 5 See also 6 References 7 External links Presentation [ edit ] These include Skin lesions Hypoplastic or aplastic skin defects Pedunculated, hamartomatous or nodular skin appendages Eye lesions Cystic microphthalmia Brain lesions Forebrain anomalies Agenesis of the corpus callosum Enlarged lateral ventricles Interhemispheric cysts Hydrocephalus Polymicrogyria Periventricular nodular heterotopia Mid-hindbrain malformation Giant dysplastic tectum Absent cerebellar vermis Small cerebellar hemispheres Large posterior fossa fluid collections Genetics [ edit ] This is not understood but it is suspected that the gene(s) responsible may lie on the X chromosome . Diagnosis [ edit ] Differential diagnosis [ edit ] Aicardi syndrome Encephalocraniocutaneous lipomatosis Focal dermal hypoplasia Oculo-auriculo-vertebral spectrum Epidemiology [ edit ] This is a rare condition with only 26 cases diagnosed by 2005.
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Insulin-Resistance Syndrome Type B
Orphanet
A rare genetic disease that belongs to the group of extreme insulin-resistance syndromes and is due to autoantibodies directed against insulin receptor. Epidemiology Insulin-resistance syndrome type B is a rare disorder that mainly affects middle-aged adults, predominantly females. ... Hypoglycemia can occur during the course of the disease, or, more rarely, can be the only metabolic manifestation, and may be extremely severe. Unlike most insulin resistance syndromes, type B insulin resistance is not associated with hypertriglyceridemia. Etiology The syndrome is associated with the presence of serum auto-antibodies directed against the insulin receptor. ... Differential diagnosis The differential diagnosis include other insulin resistance syndromes and/or hypoglycemia due to other causes.
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Paroxysmal Extreme Pain Disorder
Wikipedia
Paroxysmal extreme pain disorder Other names PEPD Paroxysmal extreme pain disorder originally named familial rectal pain syndrome , is a rare disorder whose most notable features are pain in the mandibular , ocular and rectal areas as well as flushing . ... At that time it was not given a specific name. [4] [5] A later report, by Dugan in 1972, labeled this disorder as familial rectal pain syndrome . [6] This name was used for 33 years, until a consortium of patients and clinicians was formed in the hopes of discovering the genetic cause of PEPD. ... "Paroxysmal extreme pain disorder, (previously familial rectal pain syndrome)". Neurology . 69 (6): 586–595. doi : 10.1212/01.wnl.0000268065.16865.5f . ... "What's in a name--familial rectal pain syndrome becomes paroxysmal extreme pain disorder" . ... External links [ edit ] Classification D OMIM : 167400 MeSH : C563475 v t e Pain By region/system Head and neck Headache Neck Odynophagia (swallowing) Toothache Respiratory system Sore throat Pleurodynia Musculoskeletal Arthralgia (joint) Bone pain Myalgia (muscle) Acute Delayed-onset Neurologic Neuralgia Pain asymbolia Pain disorder Paroxysmal extreme pain disorder Allodynia Chronic pain Hyperalgesia Hypoalgesia Hyperpathia Phantom pain Referred pain Congenital insensitivity to pain congenital insensitivity to pain with anhidrosis congenital insensitivity to pain with partial anhidrosis Other Pelvic pain Proctalgia Back Low back pain Measurement and testing Pain scale Cold pressor test Dolorimeter Grimace scale (animals) Hot plate test Tail flick test Visual analogue scale Pathophysiology Nociception Anterolateral system Posteromarginal nucleus Substance P Management Analgesia Anesthesia Cordotomy Pain eradication Related concepts Pain threshold Pain tolerance Suffering SOCRATES Philosophy of pain Cancer pain Drug-seeking behavior v t e Diseases of ion channels Calcium channel Voltage-gated CACNA1A Familial hemiplegic migraine 1 Episodic ataxia 2 Spinocerebellar ataxia type-6 CACNA1C Timothy syndrome Brugada syndrome 3 Long QT syndrome 8 CACNA1F Ocular albinism 2 CSNB2A CACNA1S Hypokalemic periodic paralysis 1 Thyrotoxic periodic paralysis 1 CACNB2 Brugada syndrome 4 Ligand gated RYR1 Malignant hyperthermia Central core disease RYR2 CPVT1 ARVD2 Sodium channel Voltage-gated SCN1A Familial hemiplegic migraine 3 GEFS+ 2 Febrile seizure 3A SCN1B Brugada syndrome 6 GEFS+ 1 SCN4A Hypokalemic periodic paralysis 2 Hyperkalemic periodic paralysis Paramyotonia congenita Potassium-aggravated myotonia SCN4B Long QT syndrome 10 SCN5A Brugada syndrome 1 Long QT syndrome 3 SCN9A Erythromelalgia Febrile seizure 3B Paroxysmal extreme pain disorder Congenital insensitivity to pain Constitutively active SCNN1B / SCNN1G Liddle's syndrome SCNN1A / SCNN1B / SCNN1G Pseudohypoaldosteronism 1AR Potassium channel Voltage-gated KCNA1 Episodic ataxia 1 KCNA5 Familial atrial fibrillation 7 KCNC3 Spinocerebellar ataxia type-13 KCNE1 Jervell and Lange-Nielsen syndrome Long QT syndrome 5 KCNE2 Long QT syndrome 6 KCNE3 Brugada syndrome 5 KCNH2 Short QT syndrome KCNQ1 Jervell and Lange-Nielsen syndrome Romano–Ward syndrome Short QT syndrome Long QT syndrome 1 Familial atrial fibrillation 3 KCNQ2 BFNS1 Inward-rectifier KCNJ1 Bartter syndrome 2 KCNJ2 Andersen–Tawil syndrome Long QT syndrome 7 Short QT syndrome KCNJ11 TNDM3 KCNJ18 Thyrotoxic periodic paralysis 2 Chloride channel CFTR Cystic fibrosis Congenital absence of the vas deferens CLCN1 Thomsen disease Myotonia congenita CLCN5 Dent's disease CLCN7 Osteopetrosis A2, B4 BEST1 Vitelliform macular dystrophy CLCNKB Bartter syndrome 3 TRP channel TRPC6 FSGS2 TRPML1 Mucolipidosis type IV Connexin GJA1 Oculodentodigital dysplasia Hallermann–Streiff syndrome Hypoplastic left heart syndrome GJB1 Charcot–Marie–Tooth disease X1 GJB2 Keratitis–ichthyosis–deafness syndrome Ichthyosis hystrix Bart–Pumphrey syndrome Vohwinkel syndrome ) GJB3 / GJB4 Erythrokeratodermia variabilis Progressive symmetric erythrokeratodermia GJB6 Clouston's hidrotic ectodermal dysplasia Porin AQP2 Nephrogenic diabetes insipidus 2 See also: ion channels
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Xx Male Syndrome
Wikipedia
Rare congenital condition where an individual with an 46, XX karyotype has phenotypically male characteristics that can vary between cases XX male syndrome Other names De la Chapelle syndrome [1] Human karyotype 46 XX Specialty Medical genetics XX male syndrome , also known as de la Chapelle syndrome , is a rare congenital intersex condition in which an individual with a 46, XX karyotype (otherwise associated with females) has phenotypically male characteristics that can vary among cases. [2] Synonyms include 46,XX testicular difference of sex development (46,XX DSD), 46,XX sex reversal, nonsyndromic 46,XX testicular DSD, and XX sex reversal. [3] [4] [5] [6] In 90 percent of these individuals, the syndrome is caused by the Y chromosome 's SRY gene, which triggers male reproductive development, being atypically included in the crossing over of genetic information that takes place between the pseudoautosomal regions of the X and Y chromosomes during meiosis in the father. [2] [7] When the X with the SRY gene combines with a normal X from the mother during fertilization , the result is an XX male. ... Since XX male syndrome is variable in its presentation, the specifics of treatment varies widely as well. ... "Clinical, Endocrinological, and Epigenetic Features of the 46,XX Male Syndrome, Compared with 47,XXY Klinefelter Patients" . ... "Low semen volume in 47 adolescents and adults with 47,XXY Klinefelter or 46,XX male syndrome". International Journal of Andrology . 32 (4): 376–384. doi : 10.1111/j.1365-2605.2008.00921.x . ... External links [ edit ] GeneReviews/NCBI/NIH/UW entry on 46,XX Testicular Disorder of Sex Development GeneReviews/NCBI/NIH/UW entry on 46,XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis Classification D ICD - 10 : Q98.3 OMIM : 300833 400045 278850 300833 400045 MeSH : D058531 External resources Orphanet : 393 v t e Chromosome abnormalities Autosomal Trisomies /Tetrasomies Down syndrome 21 Edwards syndrome 18 Patau syndrome 13 Trisomy 9 Tetrasomy 9p Warkany syndrome 2 8 Cat eye syndrome / Trisomy 22 22 Trisomy 16 Monosomies / deletions ( 1q21.1 copy number variations / 1q21.1 deletion syndrome / 1q21.1 duplication syndrome / TAR syndrome / 1p36 deletion syndrome ) 1 Wolf–Hirschhorn syndrome 4 Cri du chat syndrome / Chromosome 5q deletion syndrome 5 Williams syndrome 7 Jacobsen syndrome 11 Miller–Dieker syndrome / Smith–Magenis syndrome 17 DiGeorge syndrome 22 22q11.2 distal deletion syndrome 22 22q13 deletion syndrome 22 genomic imprinting Angelman syndrome / Prader–Willi syndrome ( 15 ) Distal 18q- / Proximal 18q- X / Y linked Monosomy Turner syndrome (45,X) Trisomy / tetrasomy , other karyotypes / mosaics Klinefelter syndrome (47,XXY) XXYY syndrome (48,XXYY) XXXY syndrome (48,XXXY) 49,XXXYY 49,XXXXY Triple X syndrome (47,XXX) Tetrasomy X (48,XXXX) 49,XXXXX Jacobs syndrome (47,XYY) 48,XYYY 49,XYYYY 45,X/46,XY 46,XX/46,XY Translocations Leukemia / lymphoma Lymphoid Burkitt's lymphoma t(8 MYC ;14 IGH ) Follicular lymphoma t(14 IGH ;18 BCL2 ) Mantle cell lymphoma / Multiple myeloma t(11 CCND1 :14 IGH ) Anaplastic large-cell lymphoma t(2 ALK ;5 NPM1 ) Acute lymphoblastic leukemia Myeloid Philadelphia chromosome t(9 ABL ; 22 BCR ) Acute myeloblastic leukemia with maturation t(8 RUNX1T1 ;21 RUNX1 ) Acute promyelocytic leukemia t(15 PML ,17 RARA ) Acute megakaryoblastic leukemia t(1 RBM15 ;22 MKL1 ) Other Ewing's sarcoma t(11 FLI1 ; 22 EWS ) Synovial sarcoma t(x SYT ;18 SSX ) Dermatofibrosarcoma protuberans t(17 COL1A1 ;22 PDGFB ) Myxoid liposarcoma t(12 DDIT3 ; 16 FUS ) Desmoplastic small-round-cell tumor t(11 WT1 ; 22 EWS ) Alveolar rhabdomyosarcoma t(2 PAX3 ; 13 FOXO1 ) t (1 PAX7 ; 13 FOXO1 ) Other Fragile X syndrome Uniparental disomy XX male syndrome / 46,XX testicular disorders of sex development Marker chromosome Ring chromosome 6 ; 9 ; 14 ; 15 ; 18 ; 20 ; 21 , 22
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Platypnea-Orthodeoxia Syndrome
Wikipedia
Platypnea-orthodeoxia syndrome Differential diagnosis intracardiac shunting Platypnea–orthodeoxia syndrome is a condition in which a person has shortness of breath and low oxygen saturations when upright ( platypnea and orthodeoxia ), but no symptoms when lying down. ... Scott (2015-10-01). "Platypnea-Orthodeoxia Syndrome: Diagnostic Challenge and the Importance of Heightened Clinical Suspicion" . ... PMID 26504452 . ^ De Vecchis, Renato; Baldi, Cesare; Ariano, Carmelina (2016-09-23). "Platypnea–Orthodeoxia Syndrome: Multiple Pathophysiological Interpretations of a Clinical Picture Primarily Consisting of Orthostatic Dyspnea" .