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Cystic Fibrosis And Congenital Absence Of The Vas Deferens
Gene_reviews
Obstructive azoospermia may be part of a syndrome or may be an isolated finding. Syndromes with obstructive azoospermia include the following: Young syndrome (OMIM 279000), a progressive obstruction of the epididymis by inspissated secretions in males with chronic sinopulmonary infection. Males with Young syndrome do not have malformations of the vas deferens or epididymis. Molecular testing of individuals with Young syndrome indicates that this disorder is not caused by pathogenic variants in CFTR [Friedman et al 1995]. ... Meconium ileus and distal intestinal obstructive syndrome requires surgical evaluation and management.
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Diving Disorders
Wikipedia
Since bubbles can form in any part of the body, or migrate via the bloodstream to any part of the body, DCS can produce a wide range of symptoms, and its effects may vary from joint pain and skin rashes to paralysis and death. [4] Dysbaric osteonecrosis [ edit ] Main article: Dysbaric osteonecrosis Dysbaric osteonecrosis, also known as aseptic bone necrosis, is generally a longer term effect on the bones and joints of divers caused by decompression bubbles and may occur even if no clinical decompression sickness has been diagnosed. [5] [6] High pressure nervous syndrome [ edit ] Main article: High-pressure nervous syndrome High-pressure nervous syndrome (HPNS) is a neurological and physiological diving disorder that results when a diver descends below about 500 feet (150 m) while breathing a helium–oxygen mixture. ... A diver should not drown merely as a result of being in the water. Salt water aspiration syndrome [ edit ] Main article: Salt water aspiration syndrome Salt water aspiration syndrome is a rare diving disorder suffered by divers who inhale a mist of seawater from a faulty demand valve causing irritation of the lungs . [11] [12] It can be treated by rest for several hours. ... Retrieved 26 May 2008 . ^ a b Bennett, Peter B; Rostain, Jean Claude (2003). "The High Pressure Nervous Syndrome". In Brubakk, Alf O; Neuman, Tom S (eds.). ... Diving Medicine for Scuba Divers (free internet edition, 5th ed.). www.divingmedicine.info. ^ Edmonds C (September 1970). "A salt water aspiration syndrome". Mil Med . 135 (9): 779–85. doi : 10.1093/milmed/135.9.779 . PMID 4991232 . ^ Edmonds C (1998). "Drowning syndromes: the mechanism" . South Pacific Underwater Medicine Society Journal . 28 (1).
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Cardiac Amyloidosis
Wikipedia
The vast majority of familial cardiac amyloidosis still present after the age of 60. [4] A common mutation is the TTR gene mutation Val122Ile. [2] It is estimated that 3.5 - 4% of African Americans in The United States have the Val 122lle mutation. [4] This type of amyloidosis can be identified by genetic testing for protein mutation. [4] For the diagnosis of familial cardiac amyloidosis to be made a biopsy with histological evaluation must be obtained. [7] In this histological evaluation special stains are utilized to visualize the amyloid deposits . [7] One such stain is Congo Red , which binds specifically to the amyloid deposit and can be characterized by various lighting methods. [7] Under polarized light, the amyloid deposits while show pathognomonic apple green birefringence, and under plain light the deposits will appear a light salmon pink color. [7] Familial amyloidosis symptoms are centered around neuropathological and cardiac problems. [3] Cardiac manifestations of the TTR mutation present more often in The United States. [4] Senile (ATTR wt -CM) [ edit ] This type is considered the wild-type mutation which leads to the development of TTR deposits . [2] It usually affects males over 70 years with the manifestation of carpal tunnel syndrome . [4] Similar to the other subtypes of cardiac amyloidosis, a biopsy is required for diagnosis. [4] However, formal diagnosis of Senile cardiac amyloidosis is a diagnosis of exclusion. [4] Biopsy with histological evaluation can rule out Light chain and Familial subtypes, leaving the diagnosis of Senile. [4] This type is often misdiagnosed, however, greater use of cardiac magnetic resonance has increased the rate of diagnosis [2] The severity of the disease tends to be less than the Light chain and Familial variants. [4] This is due to the amount of time that it takes to accumulate the amyloid depositions being longer in the Senile variant. [4] Cause [ edit ] The general cause of cardiac amyloidosis is the misfolding of a specific protein precursor depending on the amyloidosis type. ... Deposits in the extracellular cardiac space can stiffen the heart, resulting in restriction of the ventricles. [3] This restriction in ventricular motion results in a decreased ability for the heart to pump efficiently, leading to the various symptoms associated with cardiac amyloidosis. [4] Symptoms [ edit ] Symptoms of cardiac amyloidosis are a combination of heart failure and amyloid deposition in various other organs. [2] Amyloid deposition in the heart causes restrictive diastolic heart failure that progresses to systolic heart failure. [8] Cardiac manifestations include: Dyspnea on exertion [2] Peripheral edema and ascites [2] Pericardial effusion [2] Arrhythmias (secondary to disruption of the normal electrical system of the heart) Atrial arrhythmias (such as atrial fibrillation ) [2] First/second degree heart blocks [2] Syncope [2] Elevated neck veins and jugular venous pressure [9] Myocardial ischemia / Angina (secondary to amyloid deposition in the small arteries of the heart) [2] Myocardial oxygen demand is increased in patients with cardiac amyloidosis, regardless of changes to coronary perfusion. [10] For patients with light-chain amyloidosis, there can be depositions of amyloid into numerous different organs. [2] Deposition of amyloid into other organs makes the diagnosis of cardiac amyloidosis difficult as these extracardiac manifestations mask the diagnosis. [2] Extracardiac manifestations include: Macroglossia [2] Periorbital bruising [2] Loss of the third and fourth heart sound [3] Thromboembolisms [2] Symmetric sensory neuropathy (such as bilateral carpal tunnel) [3] Postural hypotension (secondary to autonomic neuropathy) [2] Nephrotic syndrome (secondary to free light chain damage to the kidneys/deposition of amyloid in the kidneys) [2] Diagnosis [ edit ] Play media 2D echocardiogram. ... External links [ edit ] Classification D External resources MedlinePlus : 000193 eMedicine : article/1967220 v t e Cardiovascular disease (heart) Ischaemic Coronary disease Coronary artery disease (CAD) Coronary artery aneurysm Spontaneous coronary artery dissection (SCAD) Coronary thrombosis Coronary vasospasm Myocardial bridge Active ischemia Angina pectoris Prinzmetal's angina Stable angina Acute coronary syndrome Myocardial infarction Unstable angina Sequelae hours Hibernating myocardium Myocardial stunning days Myocardial rupture weeks Aneurysm of heart / Ventricular aneurysm Dressler syndrome Layers Pericardium Pericarditis Acute Chronic / Constrictive Pericardial effusion Cardiac tamponade Hemopericardium Myocardium Myocarditis Chagas disease Cardiomyopathy Dilated Alcoholic Hypertrophic Tachycardia-induced Restrictive Loeffler endocarditis Cardiac amyloidosis Endocardial fibroelastosis Arrhythmogenic right ventricular dysplasia Endocardium / valves Endocarditis infective endocarditis Subacute bacterial endocarditis non-infective endocarditis Libman–Sacks endocarditis Nonbacterial thrombotic endocarditis Valves mitral regurgitation prolapse stenosis aortic stenosis insufficiency tricuspid stenosis insufficiency pulmonary stenosis insufficiency Conduction / arrhythmia Bradycardia Sinus bradycardia Sick sinus syndrome Heart block : Sinoatrial AV 1° 2° 3° Intraventricular Bundle branch block Right Left Left anterior fascicle Left posterior fascicle Bifascicular Trifascicular Adams–Stokes syndrome Tachycardia ( paroxysmal and sinus ) Supraventricular Atrial Multifocal Junctional AV nodal reentrant Junctional ectopic Ventricular Accelerated idioventricular rhythm Catecholaminergic polymorphic Torsades de pointes Premature contraction Atrial Junctional Ventricular Pre-excitation syndrome Lown–Ganong–Levine Wolff–Parkinson–White Flutter / fibrillation Atrial flutter Ventricular flutter Atrial fibrillation Familial Ventricular fibrillation Pacemaker Ectopic pacemaker / Ectopic beat Multifocal atrial tachycardia Pacemaker syndrome Parasystole Wandering atrial pacemaker Long QT syndrome Andersen–Tawil Jervell and Lange-Nielsen Romano–Ward Cardiac arrest Sudden cardiac death Asystole Pulseless electrical activity Sinoatrial arrest Other / ungrouped hexaxial reference system Right axis deviation Left axis deviation QT Short QT syndrome T T wave alternans ST Osborn wave ST elevation ST depression Strain pattern Cardiomegaly Ventricular hypertrophy Left Right / Cor pulmonale Atrial enlargement Left Right Athletic heart syndrome Other Cardiac fibrosis Heart failure Diastolic heart failure Cardiac asthma Rheumatic fever 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
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Occupational Burnout
Wikipedia
"On the depressive nature of the "burnout syndrome": A clarification" . European Psychiatry . 41 : 109–110. doi : 10.1016/j.eurpsy.2016.10.008 . ... "Hypothalamic–pituitary–adrenal axis dysfunction in chronic fatigue syndrome". Nature Reviews Endocrinology . 8 (1): 22–32. doi : 10.1038/nrendo.2011.153 . ... "The low dose ACTH test in chronic fatigue syndrome and in health". Clinical Endocrinology . 48 (6): 733–737. doi : 10.1046/j.1365-2265.1998.00418.x . ... "Persistent burnout theory of chronic fatigue syndrome" . PeerJ PrePrints. doi : 10.7287/peerj.preprints.860v1 . ... "Does hypothalamic-pituitary-adrenal axis hypofunction in chronic fatigue syndrome reflect a 'crash' in the stress system?".
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Rhabdomyolysis
Wikipedia
S2CID 3239804 . ^ Saviuc P, Danel V (2006). "New syndromes in mushroom poisoning". Toxicological Reviews . 25 (3): 199–209. doi : 10.2165/00139709-200625030-00004 . ... "Diagnostic techniques in acute compartment syndrome of the leg". Journal of Orthopaedic Trauma . 22 (8): 581–7. doi : 10.1097/BOT.0b013e318183136d . ... "Current thinking about acute compartment syndrome of the lower extremity" . Canadian Journal of Surgery . 53 (5): 329–34. ... "Consensus statement on the early management of crush injury and prevention of crush syndrome" . Journal of the Royal Army Medical Corps . 149 (4): 255–9. doi : 10.1136/jramc-149-04-02 . ... PMID 9527411 . ^ a b c Bywaters EG (1990). "50 years on: the crush syndrome" . BMJ . 301 (6766): 1412–5. doi : 10.1136/bmj.301.6766.1412 .
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Lymphedema
Wikipedia
Lymphedema-associated lymphangiosarcoma is called Stewart-Treves syndrome . [4] Lymphangiosarcoma most frequently occurs in cases of long-standing lymphedema. ... Primary lymphedema may be congenital or arise sporadically. Multiple syndromes are associated with primary lymphedema, including Turner syndrome , Milroy's disease , and Klippel-Trenaunay-Weber syndrome . ... Another form of hereditary lymphedema is Milroy's disease caused by mutations in the VEGFR3 gene. [4] [18] Hereditary lymphedema is frequently syndromic and is associated with Turner syndrome , lymphedema–distichiasis syndrome , yellow nail syndrome , and Klippel–Trénaunay–Weber syndrome . [19] One defined genetic cause for hereditary lymphedema is GATA2 deficiency . ... "MRI of angiosarcoma associated with chronic lymphoedema: Stewart Treves syndrome". The British Journal of Radiology . 80 (960): e310-3. doi : 10.1259/bjr/19441948 . ... External links [ edit ] Classification D ICD - 10 : I89.0 , I97.2 , Q82.0 ICD - 9-CM : 457.0 , 457.1 , 757.0 OMIM : 153100 MeSH : D008209 DiseasesDB : 7679 External resources eMedicine : article/1087313 Wikimedia Commons has media related to Lymphedema . v t e Congenital malformations and deformations of integument / skin disease Genodermatosis Congenital ichthyosis / erythrokeratodermia AD Ichthyosis vulgaris AR Congenital ichthyosiform erythroderma : Epidermolytic hyperkeratosis Lamellar ichthyosis Harlequin-type ichthyosis Netherton syndrome Zunich–Kaye syndrome Sjögren–Larsson syndrome XR X-linked ichthyosis Ungrouped Ichthyosis bullosa of Siemens Ichthyosis follicularis Ichthyosis prematurity syndrome Ichthyosis–sclerosing cholangitis syndrome Nonbullous congenital ichthyosiform erythroderma Ichthyosis linearis circumflexa Ichthyosis hystrix EB and related EBS EBS-K EBS-WC EBS-DM EBS-OG EBS-MD EBS-MP JEB JEB-H Mitis Generalized atrophic JEB-PA DEB DDEB RDEB related: Costello syndrome Kindler syndrome Laryngoonychocutaneous syndrome Skin fragility syndrome Ectodermal dysplasia Naegeli syndrome / Dermatopathia pigmentosa reticularis Hay–Wells syndrome Hypohidrotic ectodermal dysplasia Focal dermal hypoplasia Ellis–van Creveld syndrome Rapp–Hodgkin syndrome / Hay–Wells syndrome Elastic / Connective Ehlers–Danlos syndromes Cutis laxa ( Gerodermia osteodysplastica ) Popliteal pterygium syndrome Pseudoxanthoma elasticum Van der Woude syndrome Hyperkeratosis / keratinopathy PPK diffuse : Diffuse epidermolytic palmoplantar keratoderma Diffuse nonepidermolytic palmoplantar keratoderma Palmoplantar keratoderma of Sybert Meleda disease syndromic connexin Bart–Pumphrey syndrome Clouston's hidrotic ectodermal dysplasia Vohwinkel syndrome Corneodermatoosseous syndrome plakoglobin Naxos syndrome Scleroatrophic syndrome of Huriez Olmsted syndrome Cathepsin C Papillon–Lefèvre syndrome Haim–Munk syndrome Camisa disease focal : Focal palmoplantar keratoderma with oral mucosal hyperkeratosis Focal palmoplantar and gingival keratosis Howel–Evans syndrome Pachyonychia congenita Pachyonychia congenita type I Pachyonychia congenita type II Striate palmoplantar keratoderma Tyrosinemia type II punctate : Acrokeratoelastoidosis of Costa Focal acral hyperkeratosis Keratosis punctata palmaris et plantaris Keratosis punctata of the palmar creases Schöpf–Schulz–Passarge syndrome Porokeratosis plantaris discreta Spiny keratoderma ungrouped: Palmoplantar keratoderma and spastic paraplegia desmoplakin Carvajal syndrome connexin Erythrokeratodermia variabilis HID / KID Other Meleda disease Keratosis pilaris ATP2A2 Darier's disease Dyskeratosis congenita Lelis syndrome Dyskeratosis congenita Keratolytic winter erythema Keratosis follicularis spinulosa decalvans Keratosis linearis with ichthyosis congenita and sclerosing keratoderma syndrome Keratosis pilaris atrophicans faciei Keratosis pilaris Other cadherin EEM syndrome immune system Hereditary lymphedema Mastocytosis / Urticaria pigmentosa Hailey–Hailey see also Template:Congenital malformations and deformations of skin appendages , Template:Phakomatoses , Template:Pigmentation disorders , Template:DNA replication and repair-deficiency disorder Developmental anomalies Midline Dermoid cyst Encephalocele Nasal glioma PHACE association Sinus pericranii Nevus Capillary hemangioma Port-wine stain Nevus flammeus nuchae Other/ungrouped Aplasia cutis congenita Amniotic band syndrome Branchial cyst Cavernous venous malformation Accessory nail of the fifth toe Bronchogenic cyst Congenital cartilaginous rest of the neck Congenital hypertrophy of the lateral fold of the hallux Congenital lip pit Congenital malformations of the dermatoglyphs Congenital preauricular fistula Congenital smooth muscle hamartoma Cystic lymphatic malformation Median raphe cyst Melanotic neuroectodermal tumor of infancy Mongolian spot Nasolacrimal duct cyst Omphalomesenteric duct cyst Poland anomaly Rapidly involuting congenital hemangioma Rosenthal–Kloepfer syndrome Skin dimple Superficial lymphatic malformation Thyroglossal duct cyst Verrucous vascular malformation Birthmark v t e Lymphatic disease : organ and vessel diseases Thymus Abscess Hyperplasia Hypoplasia DiGeorge syndrome Ectopic thymus Thymoma Thymic carcinoma Spleen Asplenia Asplenia with cardiovascular anomalies Accessory spleen Polysplenia Wandering spleen Splenomegaly Banti's syndrome Splenic infarction Splenic tumor Lymph node Lymphadenopathy Generalized lymphadenopathy Castleman's disease Intranodal palisaded myofibroblastoma Kikuchi disease Tonsils see Template:Respiratory pathology Lymphatic vessels Lymphangitis Lymphangiectasia Lymphedema Primary lymphedema Congenital lymphedema Lymphedema praecox Lymphedema tarda Lymphedema–distichiasis syndrome Milroy's disease Secondary lymphedema Bullous lymphedema Factitial lymphedema Postinflammatory lymphedema Postmastectomy lymphangiosarcoma Waldmann disease v t e Disorders of volume state Volume contraction dehydration hypovolemia Hypervolemia Edema Anasarca Cerebral edema Pulmonary edema Angioedema Lymphedema Other Cause of fluid collection Exudate Transudate By site Hydrothorax Ascites Hydrosalpinx HyperemiaGATA2, FLT4, AKT1, PIEZO1, RASA2, RIT1, RRAS, SOS1, SOS2, TSC1, TSC2, VEGFC, LZTR1, IKBKG, DCHS1, ADAMTS3, MRAS, ABCC9, PTPN14, SLC35D1, KAT6B, LEMD3, SOX18, GJC2, ALG8, FAT4, SHANK3, ANTXR2, A2ML1, CCBE1, RAF1, PTEN, PTPN11, BCL2, BCL6, BRAF, CDC42, CDK5, EMP2, EPHB4, FOXC2, GLA, GUSB, HLA-DRB1, IGH, INPPL1, KIF11, KRAS, LBR, MPI, NAGA, NRAS, PIK3CA, PMM2, MAP2K1, MAP2K2, RELN, KIF7, HGF, MET, VEGFD
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Sexual Dysfunction
Wikipedia
There is no known cure or treatment. [8] Dhat syndrome is another condition which occurs in men. It is a culture-bound syndrome which causes anxious and dysphoric mood after sex, but is distinct from the low-mood and concentration problems (acute aphasia) seen in postorgasm illness syndrome. ... S2CID 143113254 . ^ a b "Postorgasmic illness syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" . ^ Nolen-Hoeksema, S. (2013). ... ISBN 9781118665565 . ^ "Postorgasmic illness syndrome" . Genetic and Rare Diseases Information Center (GARD) . ... Retrieved 30 July 2015 . ^ Ashby J, Goldmeier D (May 2010). "Postorgasm illness syndrome--a spectrum of illnesses". J. Sex.
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Mental Disorder
Wikipedia
According to DSM-IV , a mental disorder is a psychological syndrome or pattern which is associated with distress (e.g. via a painful symptom ), disability (impairment in one or more important areas of functioning), increased risk of death, or causes a significant loss of autonomy; however it excludes normal responses such as grief from loss of a loved one, and also excludes deviant behavior for political, religious, or societal reasons not arising from a dysfunction in the individual. [12] [13] DSM-IV precedes the definition with caveats, stating that, as in the case with many medical terms, mental disorder "lacks a consistent operational definition that covers all situations", noting that different levels of abstraction can be used for medical definitions, including pathology, symptomology, deviance from a normal range, or etiology, and that the same is true for mental disorders, so that sometimes one type of definition is appropriate, and sometimes another, depending on the situation. [14] In 2013, the American Psychiatric Association (APA) redefined mental disorders in the DSM-5 as "a syndrome characterized by clinically significant disturbance in an individual's cognition, emotion regulation, or behavior that reflects a dysfunction in the psychological, biological, or developmental processes underlying mental functioning." [15] The final draft of ICD-11 contains a very similar definition. [16] The terms "mental breakdown" or "nervous breakdown" may be used by the general population to mean a mental disorder. [17] The terms "nervous breakdown" and "mental breakdown" have not been formally defined through a medical diagnostic system such as the DSM-5 or ICD-10 , and are nearly absent from scientific literature regarding mental illness. [18] [19] Although "nervous breakdown" is not rigorously defined, surveys of laypersons suggest that the term refers to a specific acute time-limited reactive disorder, involving symptoms such as anxiety or depression, usually precipitated by external stressors . [18] Many health experts today refer to a nervous breakdown as a "mental-health crisis". [20] Nervous illness Additionally to the concept of mental disorder, some people have argued for a return to the old-fashioned concept of nervous illness. ... Neurasthenia is an old diagnosis involving somatic complaints as well as fatigue and low spirits/depression, which is officially recognized by the ICD-10 but no longer by the DSM-IV. [45] [ non-primary source needed ] Factitious disorders , such as Munchausen syndrome , are diagnosed where symptoms are thought to be experienced (deliberately produced) and/or reported (feigned) for personal gain. ... There are a number of uncommon psychiatric syndromes , which are often named after the person who first described them, such as Capgras syndrome , De Clerambault syndrome , Othello syndrome , Ganser syndrome , Cotard delusion , and Ekbom syndrome , and additional disorders such as the Couvade syndrome and Geschwind syndrome . [46] Various new types of mental disorder diagnosis are occasionally proposed. ... Asylum care was often harsh and treated people like wild animals, but towards the end of the 18th century a moral treatment movement gradually developed. Clear descriptions of some syndromes may be rare prior to the 19th century.
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Osteoporosis
Wikipedia
The term "established osteoporosis" is used when a broken bone due to osteoporosis has occurred. [20] Osteoporosis is a part of frailty syndrome . Risk of falls [ edit ] Progression of the shape of vertebral column with age in osteoporosis There is an increased risk of falls associated with aging. ... Other examples include bone loss during space flight or in people who are bedridden or use wheelchairs for various reasons. [ citation needed ] Hypogonadal states can cause secondary osteoporosis. These include Turner syndrome , Klinefelter syndrome , Kallmann syndrome , anorexia nervosa , andropause , [53] hypothalamic amenorrhea or hyperprolactinemia . [53] In females, the effect of hypogonadism is mediated by estrogen deficiency. ... These include osteogenesis imperfecta , [53] Marfan syndrome , [53] hemochromatosis , [4] hypophosphatasia [58] (for which it is often misdiagnosed), [59] glycogen storage diseases , homocystinuria , [53] Ehlers–Danlos syndrome , [53] porphyria , Menkes' syndrome , epidermolysis bullosa and Gaucher's disease . ... Bone loss can be a feature of complex regional pain syndrome . It is also more frequent in people with Parkinson's disease and chronic obstructive pulmonary disease . [ citation needed ] People with Parkinson's disease have a higher risk of broken bones. ... Steroid-induced osteoporosis (SIOP) arises due to use of glucocorticoids – analogous to Cushing's syndrome and involving mainly the axial skeleton.PTH, TGFB1, TNF, IL6, IL1B, CAT, HIF1A, PTK2B, PTGER4, ACP5, COL1A1, COL1A2, ESR1, VDR, LRP5, TNFSF11, TNFRSF11B, BTF3P11, TNFRSF11A, IL17A, SOST, PTHLH, PIK3CD, PIK3CG, ESR2, BGLAP, PIK3CA, CTNNB1, PIK3CB, DMD, BEST1, CALCA, C4orf3, IL1RN, NPY, WNT3A, TRAF6, SQOR, DANCR, IL1A, REN, BRD2, RPS5, SPP1, TAC1, VEGFA, PTH1R, SMAD2, CYP19A1, ELAVL2, BMP2, CNR2, RUNX2, MIR214, CLCF1, SNHG1, DGCR5, IL36A, ADGRF5, REM1, ARHGEF3, MIR409, IL17D, MIR422A, MIR410, MIR503, GPR87, CRNDE, SIRT1, PPWD1, NCF1, SEMA4D, MIR542, MIR618, CPQ, MIR708, TUBA1B, SEMA3A, TRAP, MIR373, MEG3, FBXW7, IL27, ZBTB8OS, CCL4L1, TMPRSS6, MIRLET7C, CCL4L2, PTRH1, MIR146A, TRIM63, FNDC1, MIR155, MAP9, MIR203A, VKORC1, MIR21, MIR210, MIR27A, GAS5, MIR320A, HAMP, MIR98, MIR331, MIR338, RETN, ITLN1, DHTKD1, IL18BP, CCL4, ADIPOQ, LGALS8, ICAM1, IBSP, PRMT1, HP, HLA-B, HLA-A, GPX1, GNAI2, GLI2, GJA4, GAPDH, FLNA, EZH2, ETS1, EGR3, CTSK, CSF1, COL9A1, CDX2, CD38, CD34, CD14, CASP3, CACNG1, C3, BMP4, AR, IGF1, SMAD4, NRIP1, MT2A, FGF23, VIP, UMOD, TNFRSF1A, TLR4, SOX9, SOX5, SOD2, SLIT3, SFRP1, CCL11, ADRB1, CCL2, REL, RDX, RBP4, RBBP4, RAC2, RAC1, LGMN, MAP2K7, MAPK3, PLCG2, SERPINE1, NPPB, NEO1, MTNR1B, CASC11
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Memory Disorder
Wikipedia
However, after 90 years of age dementia incidence declines in men but not in women. [16] Hyperthymestic syndrome [ edit ] Hyperthymestic syndrome causes an individual to have an extremely detailed autobiographical memory . ... (patient) A.J. suffered from a rare memory disorder called hyperthymestic syndrome. She had an inability to forget. ... PMID 11445258 . ^ "Researchers Identify New Form Of Superior Memory Syndrome" . sciencedaily.com. March 14, 2006 . Retrieved October 26, 2019 . ^ a b Treffert, Darold (2010). "Hyperthymestic Syndrome: Extraordinary Memory for Daily Life Events. ... Psychogeriatrics . 6 (3): 114–8. doi : 10.1111/j.1479-8301.2006.00168.x . ^ Wernicke-Korsakoff Syndrome at eMedicine ^ France, L. (2005).APP, PSEN1, MAPT, C9orf72, PRNP, COX2, TLR4, ABCA7, CP, GRN, FAS, PRRT2, SCN2A, FMR1, IL10, PIK3CA, SCN8A, SORL1, ATXN1, SIM1, RPS20, IL1B, ALDH18A1, SLC20A2, HLA-DQB1, HLA-B, ACHE, MSH6, SPAST, SPG7, IL12A, VAMP1, TGFBR2, TYROBP, VCP, KLRC4, FGF14, SQSTM1, EIF2B4, EIF2B3, EIF2B2, STAT4, PRKCG, PSEN2, COX1, MYD88, TRNW, TRNS2, TRNS1, TRNQ, TRNL1, TRNH, TRNF, PAH, ND6, ND5, ND4, ND1, COX3, MSH2, PSAP, PDGFB, PDGFRB, MLH1, ATXN3, MEFV, PMS1, PMS2, POLG, EPCAM, KRAS, KCNQ3, KCNQ2, PRKAR1B, EIF2B1, EIF2B5, NOTCH3, FAN1, UBAC2, CSF1R, AFG3L2, IL23R, UGT1A1, VPS13A, APOE, CAMTA1, CCR1, ARSA, SEMA4A, XPR1, MYORG, CHMP2B, BDNF, MLH3, REEP2, JPH3, BMPR1A, TWNK, TMEM106B, ERAP1, ADA2, TREM2, ACSF3, C4A, IL12A-AS1, DNMT1, SLC25A13, TOMM40, ATN1, GNE, STUB1, ECM1, CASP3, TNF, BACE1, NFE2L2, GRIN2B, ESR1, GABPA, IL6, DLG4, CAT, PERCC1, SNCA, ADRA2B, HCRT, MCIDAS, GSK3B, MAPK1, MME, ACKR3, SUCLA2, APLN, LAMC2, EPHB2, MAPK8, CTNNB1, BCL2, CDH1, FNDC5, CSF2, GPX1, CREB1, CNR1, GFAP, S100A9, TRPV1, CHRNA4, AGT, PTGS2, CDK5, PTPN5, KIF17, MIR132, LPAR2, PVALB, POMC, PPARG, GRAP2, NGFR, KAT5, AHSA1, TAC1, CXCR6, SYP, OGA, SSTR4, CPLX1, KLK8, ST3GAL4, S100B, WWC1, RAC1, SIRT1, SMUG1, RNF19A, PRKCA, POLDIP2, ACTB, PPT1, PPP5C, AIMP2, MTCO2P12, NR3C1, FANCD2, GCG, AKT1, BRS3, MAPK14, CHAT, CTSB, AGTR1, GRM5, ADRA1A, GLUL, GPR42, HMGB1, BRCA2, NR3C2, CASP1, ESR2, EPO, IGF1, NGF, IFNG, CRK, EDNRA, IDE, HTR6, TARDBP, CRTC1, CHRNB2, SYNM, NPY, QPCT, CHI3L1, CADM1, CNR2, LRBA, ENTPD1, CASP6, SLC17A5, REM1, FLVCR1, CLU, TPPP, COMT, CYBB, CLOCK, ARHGAP32, HDAC4, SV2A, DPYSL2, CFD, IGSF6, ACE, DAPK1, RACK1, CYP19A1, CX3CR1, DKK1, ARID3B, CSN2, CPLX2, CSF3, NMU, PPARGC1A, BTG3, COPS5, PRLH, WDHD1, CPA1, KCNIP3, CAMK4, GAL, ADIPOR1, SLCO6A1, ALOX5, PPM1K, AKT2, OPN5, STH, AHR, NEAT1, AGER, GSTK1, MIR107, MIR134, MIR137, MIR146A, MIR155, MIR204, MIR23A, MIR27A, MIR34A, MIR34C, TRIM72, MIR383, MIR448, ZGLP1, ECT, PARP1, ADA, LRG1, APC, FTMT, APMAP, CAPN1, HOMER1, CALML5, CALB1, KCNK10, C5AR1, CCHCR1, C3AR1, KLF9, TMED9, PGPEP1, HEATR3, BMP1, PLXNA4, NDRG2, CCND1, BCHE, NLRC4, SNX6, ATP2A1, PINK1, EHMT1, RNF34, TMX1, TTBK1, ATF4, SLC25A27, SELENBP1, GSTO1, LCN2, PRKAA1, PRKAA2, PRKAB1, KCNK2, KCNA1, PRKCB, PRKCD, ITPR1, PRKG1, ITGB2, MAPK3, ITGAM, MAP2K7, EIF2AK2, IRS1, PROP1, PROS1, RELN, IRAK1, INSR, INPPL1, PTGS1, IL17A, CXCL8, IL4, LAG3, LEP, NTN1, LGALS1, NRGN, NT5E, NTF3, NUCB2, OPRM1, PAEP, RNR2, PAM, PCSK1, PDE1B, MS, PDK1, CFP, KMT2A, PIK3CB, PIK3CD, PIK3CG, PKM, PLA2G4A, PLAT, MECP2, MAP2, MAOB, LGALS3, PPARD, IL1A, RAP1GDS1, RARRES2, IGFBP7, TIAM1, TLR2, TRPM2, TTC3, TUBA4A, GLP1R, GJA1, VGF, WNT1, SLC30A3, GAD1, FYN, PLA2G6, PDE5A, BECN1, RIPK1, FKBP5, CDK5R1, PTK2B, EZH2, SLC29A1, EGR1, LGI1, ADIPOQ, DYRK1A, TH, GPT, TFAM, HNF4A, S100A1, SORT1, IFNB1, CCL3, CX3CL1, SDHD, SHBG, HTR2A, HRES1, SLC6A4, SLC8A3, SOD1, TERT, HDAC2, GSTT1, GSTM1, SPRR2A, GRP, STAT1, STAT3, CDKL5, GRM2, GRIA1, TCN1, PRCP
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Syndactyly Type 5
Orphanet
A rare non-syndromic syndactyly characterized by soft tissue syndactyly of the 3rd and 4th fingers and the 2nd and 3rd toes associated with metacarpal and metatarsal fusion of the 4th and 5th digits.
- Syndactyly Type 1 Orphanet
- Lipoprotein Glomerulopathy Orphanet
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Autosomal Dominant Macrothrombocytopenia
Orphanet
This syndrome is characterized by congenital thrombocytopenia associated with the presence of large platelets.
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Cog7-Cdg
Orphanet
To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex.
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Pulmonary Bullae Causing Pneumothorax
Omim
Bullae were present in otherwise normal lungs. The Marfan syndrome was excluded by the height (less than 5 ft in 2) and antitrypsin deficiency was excluded by assay.
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Craniotelencephalic Dysplasia
Orphanet
Craniotelencephalic dysplasia is an extremely rare, genetic developmental defect during embryogenesis syndrome characterized by craniosynostosis with frontal encephalocele and various additional brain anomalies (severe hydrocephalus, agenesis of the corpus callosum, lissencephaly and polymicrogyria, parenchymal cysts, septo-optic dysplasia) resulting in marked cerebral dysfunction, seizures and very severe psychomotor delay.
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Rhabdomyosarcoma Of The Corpus Uteri
Orphanet
It most often presents with abnormal vaginal discharge or dysfunctional uterine bleeding, abdominal pain and lower abdominal mass. Association with DICER1 syndrome has been reported.
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Secondary Pulmonary Hemosiderosis
Orphanet
Secondary pulmonary hemosiderosis is a respiratory disease due to the deposition of hemosiderin-laden macrophages in lungs as a result of repeated alveolar hemorrhage secondary to another disease, especially dysimmunitary disorders (i.e. Heiner syndrome (see this term), autoimmune diseases), thrombotic disorders and cardiovascular disorders such as mitral stenosis.
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Anonychia With Flexural Pigmentation
Orphanet
A rare ectodermal dysplasia syndrome characterized by anonychia congenita totalis or rudimentary nails, macular hyper- and/or hypopigmentation (particularly affecting groins, axillae and breasts), coarse scalp hair (that becomes markedly thinned in early adult life), dry palmoplantar skin with distorted epidermal ridges and sore, cracked soles, and hypohidrosis.