Presentation
A case is presented of a 7-year-old patient investigated due to having partial seizures and progressive neurological degeneration. [dialnet.unirioja.es]
[…] neuroimaging in Rasmussen syndrome. ( 29331846 ) Kuki I...Shintaku H 2018 3 Pre- and postsurgical cognitive trajectories and quantitative MRI changes in Rasmussen syndrome. ( 29750339 ) Rudebeck SR...Baldeweg T 2018 4 Rasmussen syndrome: an atypical presentation [malacards.org]
Patients typically present clinical symptoms between the ages of… Continue Reading BridgeBio Pharma Raises 299 Million January 23, 2019 By Daniel S. [globalgenes.org]
Pre- and postauricular tags may be present. [ajnr.org]
Treatment at present is symptomatic and supportive. Although frequently used, the beneficial role of corticosteroids in this syndrome remains to be proved. [jamanetwork.com]
Entire Body System
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Physician
First, MD, Professor of Clinical Psychiatry, Department of Psychiatry, College of Physicians and Surgeons, Columbia University, New York, NY, USA Michelle B. [books.google.com]
[…] the Younger (secundus) (1655-1738) Danish anatomistand physician Bartter バーター Bartter's syndrome バーター症候群 Basedow バセドウ Basedow's disease バセドウ病 Karl Adolphvon Basedow (1799 – 1854) German physician Bassen-Kornzweig バッセン・コーンツヴァイク Bassen-Kornzweig syndrome [jams.med.or.jp]
Avi Bhavaraju, Ben Davis, Mary Katherine Kimbrough, Ronald D Robertson, Saleema A Karim, Kevin W Sexton Guidelines/Algorithms Joint statement from the American College of Surgeons Committee on Trauma (ACS COT) and the American College of Emergency Physicians [tsaco.bmj.com]
This book will be a gain in knowledge for every cardiologist, diabetologist, specialist in internal medicine, nutritionalist, general physician and medical student. [books.google.it]
osteosarcoma) than the general population, physicians may closely monitor affected individuals to ensure early detection and prompt, appropriate treatment. [rarediseases.org]
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Inflammation
A case report. ( 12687310 ) Kim SJ...Pillai J 2003 30 Rasmussen syndrome: multifocal spread of inflammation suggested from MRI and PET findings. ( 12887447 ) Maeda Y...Ishiwata K 2003 31 Rasmussen syndrome and long-term response to thalidomide. ( 14580660 [malacards.org]
CSP: inflammation of the brain due to infection, autoimmune processes, toxins, and other conditions; viral infections are a relatively frequent cause of this condition.,MEDLINEPLUS: Encephalitis is an inflammation of the brain. [linkedlifedata.com]
Encephalitis, or inflammation of the brain tissue, is rare, affecting about one in 200,000 people each year in the U.S. [webmd.com]
Several independent physiological processes underlie the clustering of cardio-diabetes, including central obesity, insulin resistance, dyslipidemia, inflammation, impaired glucose tolerance, and hypertension. [books.google.it]
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Epilepsy
Two patients treated 34 and 72 months after disease onset in association with epilepsy surgery had a reduction in seizures and one had no response. CMV genome was detected in the brains of two of the three patients in whom it was assessed. [n.neurology.org]
Semi-quantitative analyses of antibodies to N-methyl-d-aspartate type glutamate receptor subunits (GluN2B & GluN1) in the clinical course of Rasmussen syndrome. ( 25986190 ) Fukuyama T...Nishimura S 2015 10 Rasmussen Syndrome and Other Inflammatory Epilepsies [malacards.org]
Oligophrenia Syndrome of Moynahan Alopecia, Epilepsy, Pyorrhea, Mental Subnormality Alopecia, Neurologic Defects, and Endocrinopathy Syndrome Alopecia-Mental Retardation Syndrome 1 Alopecia-Mental Retardation Syndrome 2 Alopecia-Mental Retardation Syndrome [rgd.mcw.edu]
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Movement Disorder
Together with Professor Stanley Fahn, of the Neurological Institute in New York, he founded the Movement Disorder Society and its scientific journal Movement Disorders. He died in 1998. [books.google.it]
disorder. ( 12112188 ) Andermann F 2002 36 Kozhevnikov-Rasmussen syndrome and the new proposal on classification. ( 12181019 ) Panayiotopoulos CP 2002 37 [Parry-Romberg syndrome and Rasmussen syndrome: only an incidental similarity?]. [malacards.org]
Movement Disorders, 17(4), 817-820. Dale, R., Heyman, I. (2002). Post-streptococcal autoimmune psychiatric and movement disorders in children. British Journal of Psychiatry, 181(3), 188-190. [sydney.edu.au]
disorder Perniola Krajewska Carnevale Syndrome persistent fetal circulation syndrome persistent Mullerian duct syndrome Petty Laxova Wiedemann Syndrome Pfeiffer Kapferer Syndrome Pfeiffer Palm Teller Syndrome Pfeiffer Rockelein Syndrome Pfeiffer Tietze [rgd.mcw.edu]
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Swelling
A -year-old man presents with new-onset left lower extremity swelling and pain of hoursр durationHe takes no medications and has no history of trauma, immobilization, or prior thrombosis. [lumiererestaurant.com]
Pterygium colli mental retardation digital anomalies Syndactyly Cenani Lenz type Choroiditis, serpiginous Syndromes Tube through the mouth into the stomach to empty the stomach (gastric lavage) Certain soft drinks (such as Pepsi, Coke, Mountain Dew) Throat swelling [cuadernosdelvigia.com]
The redness may be accompanied by swelling (edema). In a few cases, the rash may be apparent earlier in life or may develop as late as at two years old. The rash typically spreads to the arms and legs and may or may not involve the buttocks. [rarediseases.org]
Ilowite N, Porras O, Reiff A, Rudge S, Punaro M, Martin A, Allen R, Harville T, Sun YN, Bevirt T, Aras G, Appleton B Clinical rheumatology 2009 Feb 28 2 129-37 A 13-month-old with persistent right knee swelling. [utswmed.org]
Musculoskeletal
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Short Fifth Finger
Symptoms - Rasmussen Johnsen Thomsen syndrome * Ear canal atresia * Foot anomalies * Rigid rocker-bottom feet * Flat feet * Wide set eyes * Short fifth fingers * Single transverse palmar crease * Pyloric stenosis * Bulging eyes Causes - Rasmussen Johnsen [checkorphan.org]
Short fifth fingers, bilateral single transverse palmar creases, pyloric stenosis, and congenital exotropia were other findings. The presumably affected grandfather had 3 affected daughters and a normal daughter and a normal son. [omim.org]
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Foot Deformity
Overview A very rare syndrome characterized mainly by the lack of an ear canal opening as well as foot deformities. [checkorphan.org]
Psychiatrical
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Suggestibility
A case report. ( 12687310 ) Kim SJ...Pillai J 2003 30 Rasmussen syndrome: multifocal spread of inflammation suggested from MRI and PET findings. ( 12887447 ) Maeda Y...Ishiwata K 2003 31 Rasmussen syndrome and long-term response to thalidomide. ( 14580660 [malacards.org]
That suggests very little bounce, given that Trump had been up by 1 percentage point in the poll before the convention. [fivethirtyeight.com]
Sequence analysis revealed: 1) highly homologous CDR3s among different expanded SG T cell clones within single patients, suggesting antigen-driven expansion and 2) unique cases of convergent recombination among unrelated patients, where different V segments [jimmunol.org]
Description of the intervention Many dietary inventions have been suggested to improve the symptoms of RAP. [cochranelibrary.com]
The unconditioned quantity of profitable stored, they suggested, “should be unbroken sufficiently ample to allot for periods of abstinence to which a minded species in a minded surround is customarily exposed, still sufficiently little to arena utmost [morganhowardproductions.com]
Face, Head & Neck
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Hypertelorism
[…] response to thalidomide. ( 14580660 ) Marjanovic BD...Djordjevic MS 2003 32 A longitudinal MRI study in children with Rasmussen syndrome. ( 12435567 ) Kim S.J....Smith J.R. 2002 33 Association of external auditory canal atresia, vertical talus, and hypertelorism [malacards.org]
Faivre, Laurence a ; MarianowskI, Rémi b ; Bonnet, Damien c ; Couly, Gérard d ; Manach, Yves b ; Le Merrer, Martine a ; Cormier-Daire, Valérie a ; Munnich, Arnold a ; Lyonnet, Stanislas a Papers Abstract Author Information Authors The association of Hypertelorism [journals.lww.com]
All 3 affected males in the third generation had increased interocular distance, although not ocular hypertelorism. [omim.org]
Association of external auditory canal atresia, vertical talus, and hypertelorism : confirmation of Rasmussen syndrome. Am J Med Genet 2002; 110: 179-81 Klemp P, Hall JG. [rrnursingschool.biz]
microtia, facial clefting syndrome Hypertelorism, Severe, with Midface Prominence, Myopia, Mental Retardation, and Bone Fragility Hypertrichosis, Hyperkeratosis, Mental Retardation, and Distinctive Facial Features Hypogonadism with Low-Grade Mental [rgd.mcw.edu]
Neurologic
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Seizure
The second group or Rasmussen syndrome is characterized by onset of seizures in previously healthy patients, starting with partial motor seizures, that later can be combined with myoclonus that affect different areas of the body. [dialnet.unirioja.es]
A 7-year-old girl with seizures escalating to 60/day over 3 months despite triple antiepileptic drug therapy became seizure-free 5 days after initiation of treatment with no recurrence at 1.5 years follow-up. [n.neurology.org]
( 9605733 ) Silver K....Meagher-Villemure K. 1998 7 Epilepsia partialis continua and other seizures arising from the precentral gyrus: high incidence in patients with Rasmussen syndrome and neuronal migration disorders. ( 1456391 ) Andermann F. 1992 8 [malacards.org]
Workup
The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients. Genet Test 1997; 1 : 99–108. 24 Weinzimer SA, McDonald-McGinn DM, Driscoll DA, Emanuel BS, Zackai EH, Moshang Jr T. [nature.com]
Treatment
If the disease is suspected, treatment with ganciclovir should be considered as early as possible. NEUROLOGY 1996;47: 925-928 Copyright 1996 by Advanstar Communications Inc. [n.neurology.org]
Treatment - Rasmussen Johnsen Thomsen syndrome Not supplied. Resources - Rasmussen Johnsen Thomsen syndrome Not supplied. [checkorphan.org]
Pediatría: Publicación Oficial de la Asociación Española de Pediatría ( AEP ), ISSN 1695-4033, ISSN-e 1696-4608, Vol. 77, Nº. 5, 2012, págs. 334-338 Idioma: español Títulos paralelos: From the beginning of a continuous partial epilepsy to the diagnosis and treatment [dialnet.unirioja.es]
Given the rarity of these diseases, the treatments outlined in the abstracts are not always evidence based. The information in the abstracts isnot intended to replace existing local, regional or country specific recommendations and guidelines. [orpha.net]
Prognosis
Prognosis - Rasmussen Johnsen Thomsen syndrome Not supplied. Treatment - Rasmussen Johnsen Thomsen syndrome Not supplied. Resources - Rasmussen Johnsen Thomsen syndrome Not supplied. [checkorphan.org]
Because ALS is a serious disease with a very poor prognosis, and has no known preventable causes, any association between statins and ALS would have important public health implications. [ahajournals.org]
Etiology
The response to antiviral therapy supports a viral etiology for chronic encephalitis of Rasmussen. If the disease is suspected, treatment with ganciclovir should be considered as early as possible. [n.neurology.org]
[…] rst group or Kojewnikow classic syndrome includes children with a known lesion in the rolandic region (the etiology is also known) and there is a stable neurological damage (unless the injury increases, e.g., tumors). [dialnet.unirioja.es]
They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]
There are many etiologic associations including drugs and infections; however, the pathophysiology of the syndrome remains obscure. Treatment at present is symptomatic and supportive. [jamanetwork.com]
Epidemiology
A, Schlienger R, Bruce Wirta S, Stålhammar J, Wikström G Clinical Epidemiology 2019, 11:231-244 Published Date: 22 March 2019 Epidemiology of dementia: prevalence and incidence estimates using validated electronic health records from primary care Ponjoan [dovepress.com]
Many years of epidemiological research have identified several risk factors for CHD. The main causes are physical inactivity and inappropriate diet (mediated through high blood pressure, high cholesterol and fatness) and smoking. [clinicaltrials.gov]
Epidemiology, 1996, vol. 7 (pg. 507-512) 68 Krapels IP, Raijmakers–Eichhorn J, Peters WH, Roelofs HM, Ras F, Steegers–Theunissen RP. [zanascutecel.ro]
J Clin Epidemiol 62, 188 – 194. 32 Luepker, RV, Apple, FS, Christenson, RH, et al. ( 2003 ) Case definitions for acute coronary heart disease in epidemiology and clinical research studies: a statement from the AHA Council on Epidemiology and Prevention [cambridge.org]
Pathophysiology
There are many etiologic associations including drugs and infections; however, the pathophysiology of the syndrome remains obscure. Treatment at present is symptomatic and supportive. [jamanetwork.com]
Beginning with molecular, biochemical, inflammatory and cellular aspects, this publication continues with histological and pathophysiological issues, details particular problems in specific metabolic and clinical settings, and finally analyzes several [books.google.it]
An Update on Epidemiology and Current Insights on Pathophysiology. [uib.no]
Familiarity with craniofacial embryology and its associated effects on resultant anatomy also leads to a better understanding of the pathophysiologic basis of craniofacial syndromes. [ajnr.org]
Prevention
Prevention - Rasmussen Johnsen Thomsen syndrome Not supplied. Diagnosis - Rasmussen Johnsen Thomsen syndrome Not supplied. Prognosis - Rasmussen Johnsen Thomsen syndrome Not supplied. Treatment - Rasmussen Johnsen Thomsen syndrome Not supplied. [checkorphan.org]
AHA Statistics Committee; World Heart Federation Council on Epidemiology and Prevention; the European Society of Cardiology Working Group on Epidemiology and Prevention; Centers for Disease Control and Prevention; and the National Heart, Lung, and Blood [cambridge.org]
There are several ways to prevent albuminuria or to prevent progression. The main therapy is a renin-angiotensin-aldosterone system blockade, which reduces proteinuria [32]. [journals.plos.org]
PRAMS 2002 Surveillance ReportAtlanta, GADivision of Reproductive Health National Center for Chronic Disease Prevention and Health Promotion, Centers for Disease Control and Prevention, 2006. . 129 Shah NR, Bracken MB. [zanascutecel.ro]