Sindrome De Jervell Lange Nielsen Pdf Download
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Much of the information in the HPO comes from Orphanet, a European rare disease databaseIf untreated, the irregular heartbeats, called arrhythmias, can lead to fainting, seizures, or sudden deathJervell and Lange-Nielsen syndromeSynonymsJervell Lange-Nielsen syndromeModes of inheritanceAutosomal recessive inheritanceAutosomal recessive inheritanceMedGen UID: 141025, Concept ID: C0441748, Intellectual ProductSource: HPO, OMIM, OrphanetA mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotesProlongation of the QTc interval is associated with tachyarrhythmias, including ventricular tachycardia, episodes of torsade de pointes ventricular tachycardia, and ventricular fibrillation, which may culminate in syncope or sudden deathMutations in these genes alter the usual structure and function of potassium channels or prevent the assembly of normal channelsAl ingreso cardiologa inform un electrocardiograma (ECG) con ritmo sinusal 81 latidos por minuto (lpm) y un QT 420 ms y corregido 490 ms, onda T de base amplia asimtrica mellada en precordiales derechas (Figura 1)Unauthorized use prohibitedCitation on PubMedModell SM, Lehmann MH
Classification and external resources Specialty cardiology ICD-10 I45.8 ICD-9-CM 426.82 OMIM 220400 DiseasesDB 7249 MeSH D029593 GeneReviews Jervell and Lange-Nielsen Syndrome Orphanet 90647 [edit on Wikidata] ECG realizado durante el ingreso, QT 443 ms y corregido QTc 453 msJervell and Lange-Nielsen SyndromeOther Names for This Condition autosomal recessive long QT syndrome (LQTS)cardio-auditory-syncope syndromecardioauditory syndrome of Jervell and Lange-Nielsendeafness, congenital, and functional heart diseaseJervell-Lange Nielsen syndromeJLNSprolonged QT interval in EKG and sudden deathsurdo-cardiac syndrome Related Information How are genetic conditions and genes named? J Hum GenetWhere to Start Genetics Home Reference (GHR) contains information on Jervell Lange-Nielsen syndromev 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 RomanoWard syndrome Short QT syndrome Long QT syndrome 1 Familial atrial fibrillation 3 KCNQ2 BFNS1 Inward-rectifier KCNJ1 Bartter syndrome 2 KCNJ2 AndersenTawil 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 HallermannStreiff syndrome Hypoplastic left heart syndrome GJB1 CharcotMarieTooth disease X1 GJB2 Keratitisichthyosisdeafness syndrome Ichthyosis hystrix BartPumphrey 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 CASOS CLNICOS
Existen dos formas: el sndrome autosmico dominante Romano-Ward y la forma autosmica recesiva Jervell Lange-Nielsen (JLNS), sndrome asociado con sordera neuro-sensorial1,2GTR Home > Conditions/Phenotypes > Jervell and Lange-Nielsen syndrome KVLQT1, HERG, SCN5A, KCNE1, and KCNE2Cardil Young 2012; 18: 1-108.Belmont JW, Craigen WJ, Martinez H, Jefferies JLNLM NIH DHHS USA.gov National Center for Biotechnology Information, U.SReview
[Links]News & Events News & Events Listen News Dont Miss the NCATS Toolkit for Patient-Focused Therapy Development Event August 31, 2017 IRDiRC Goals 2017-2027: New Rare Disease Research Goals for the Next Decade August 10, 2017 GARD Answers GARD Answers Listen Questions sent to GARD may be posted here if the information could be helpful to othersThis section provides resources to help you learn about medical research and ways to get involved10.Splawski I, Shen J, Timothy KW, Lehmann MH, Priori S, Robinson JL, Moss AJ, Schwartz PJ, Towbin JA, Vicent GM, Keating MTHistorie naturelle, bases molculaires et devenir ChiniqueDo you know of a review article? Send us your suggestions
Tambin presenta heterocigosis en la variante p.Gly852Arg (cambio en la codificacin, Glicina por Arginina) en el gen KCNG2, esta variante ha sido descrita como de patogenicidad incierta y puede tratarse de un polimorfismo sin actividad sobre el fenotipo de la pacienteGenetic Testing (3 links) Genetic Testing Registry: Jervell and Lange-Nielsen syndromeGenetic Testing Registry: Jervell and Lange-Nielsen syndrome 1Genetic Testing Registry: Jervell and Lange-Nielsen syndrome 2 Other Diagnosis and Management Resources (1 link) GeneReview: Jervell and Lange-Nielsen Syndrome General Information from MedlinePlus (5 links) Diagnostic TestsDrug TherapyGenetic CounselingPalliative CareSurgery and Rehabilitation Related Information How are genetic conditions diagnosed?How are genetic conditions treated or managed?What is genetic testing?How can I find a genetics professional in my area? 2.Kass RS, Moss AJQueremos destacar la importancia de que en nios con sordera congnita se debe tener presente este sndrome y solicitar un ECG de forma sistemtica con el fin de detectarlo, y en particular, en caso de la implantacin coclear antes de la anestesia2007, tome 100, n 5JLNS patients with KCNQ1 mutations are particularly prone to pathological lengthening of the QT interval, which predisposes them to episodes of torsades de pointes and sudden cardiac death ae94280627
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