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[PMID]:28449901
[Au] Autor:McCarter SJ; St Louis EK; Sandness DJ; Duwell EJ; Timm PC; Boeve BF; Silber MH
[Ad] Endereço:Mayo Center for Sleep Medicine, Mayo Clinic and Foundation, Rochester, MN, USA.
[Ti] Título:Diagnostic REM sleep muscle activity thresholds in patients with idiopathic REM sleep behavior disorder with and without obstructive sleep apnea.
[So] Source:Sleep Med;33:23-29, 2017 May.
[Is] ISSN:1878-5506
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:OBJECTIVES: We aimed to determine whether visual and automated rapid eye movement (REM) sleep without atonia (RSWA) methods could accurately diagnose patients with idiopathic REM sleep behavior disorder (iRBD) and comorbid obstructive sleep apnea (OSA). METHODS: In iRBD patients (n = 15) and matched controls (n = 30) with and without OSA, we visually analyzed RSWA phasic burst durations, phasic, tonic, and "any" muscle activity by 3-s mini-epochs, phasic activity by 30-s (AASM rules) epochs, and automated REM atonia index (RAI). Group RSWA metrics were analyzed with regression models. Receiver operating characteristic (ROC) curves were used to determine the best diagnostic cutoff thresholds for REM sleep behavior disorder (RBD). Both split-night and full-night polysomnographic studies were analyzed. RESULTS: All mean RSWA phasic burst durations and muscle activities were higher in iRBD patients than in controls (p <0.01). Muscle activity (phasic, "any") cutoffs for 3-s mini-epoch scorings were as follows: submentalis (SM) (15.8%, 19.5%), anterior tibialis (AT) (29.7%, 29.7%), and combined SM/AT (39.5%, 39.5%). The tonic muscle activity cutoff was 0.70% and RAI (SM) cutoff 0.86. The phasic muscle burst duration cutoffs were 0.66 s for SM and 0.71 s for AT. Combining phasic burst durations with RSWA muscle activity improved the sensitivity and specificity of iRBD diagnosis. CONCLUSIONS: This study provides evidence for quantitative RSWA diagnostic thresholds applicable in iRBD patients with OSA. Our findings in this study were very similar to those seen in patients with Parkinson's disease-REM sleep behavior disorder (PD-RBD), consistent with a common mechanism and presumed underlying etiology of synucleinopathy in both groups.
[Mh] Termos MeSH primário: Tono Muscular/fisiologia
Músculo Esquelético/fisiopatologia
Transtorno do Comportamento do Sono REM/diagnóstico
Apneia Obstrutiva do Sono/fisiopatologia
Sono REM/fisiologia
[Mh] Termos MeSH secundário: Idoso
Comorbidade
Eletromiografia/métodos
Feminino
Seres Humanos
Masculino
Meia-Idade
Hipotonia Muscular/fisiopatologia
Polissonografia/métodos
Transtorno do Comportamento do Sono REM/complicações
Transtorno do Comportamento do Sono REM/fisiopatologia
Apneia Obstrutiva do Sono/complicações
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180216
[Lr] Data última revisão:
180216
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170429
[St] Status:MEDLINE


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[PMID]:29217198
[Au] Autor:Maalej M; Tej A; Bouguila J; Tilouche S; Majdoub S; Khabou B; Tabbebi M; Felhi R; Ammar M; Mkaouar-Rebai E; Keskes L; Boughamoura L; Fakhfakh F
[Ad] Endereço:Laboratory of Molecular and Functional Genetics, Faculty of Science of Sfax, University of Sfax, Tunisia; Laboratory of Human Molecular Genetics, Faculty of Medicine of Sfax, University of Sfax, Tunisia. Electronic address: marwamaalej7@gmail.com.
[Ti] Título:Clinical, Molecular, and Computational Analysis in two cases with mitochondrial encephalomyopathy associated with SUCLG1 mutation in a consanguineous family.
[So] Source:Biochem Biophys Res Commun;495(2):1730-1737, 2018 01 08.
[Is] ISSN:1090-2104
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Deficiency of the mitochondrial enzyme succinyl COA ligase (SUCL) is associated with encephalomyopathic mtDNA depletion syndrome and methylmalonic aciduria. This disorder is caused by mutations in both SUCL subunits genes: SUCLG1 (α subnit) and SUCLA2 (ß subnit). We report here, two Tunisian patients belonging to a consanguineous family with mitochondrial encephalomyopathy, hearing loss, lactic acidosis, hypotonia, psychomotor retardation and methylmalonic aciduria. Mutational analysis of SUCLG1 gene showed, for the first time, the presence of c.41T > C in the exon 1 at homozygous state. In-silico analysis revealed that this mutation substitutes a conserved methionine residue to a threonine at position 14 (p.M14T) located at the SUCLG1 protein mitochondrial targeting sequence. Moreover, these analysis predicted that this mutation alter stability structure and mitochondrial translocation of the protein. In Addition, a decrease in mtDNA copy number was revealed by real time PCR in the peripheral blood leukocytes in the two patients compared with controls.
[Mh] Termos MeSH primário: Encefalomiopatias Mitocondriais/enzimologia
Encefalomiopatias Mitocondriais/genética
Mutação de Sentido Incorreto
Succinato-CoA Ligases/deficiência
Succinato-CoA Ligases/genética
[Mh] Termos MeSH secundário: Acidose Láctica/genética
Erros Inatos do Metabolismo dos Aminoácidos/genética
Substituição de Aminoácidos
Pré-Escolar
Consanguinidade
DNA Mitocondrial/genética
Estabilidade Enzimática/genética
Feminino
Dosagem de Genes
Perda Auditiva/genética
Homozigoto
Seres Humanos
Lactente
Masculino
Hipotonia Muscular/genética
Succinato-CoA Ligases/química
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (DNA, Mitochondrial); EC 6.2.1.- (SUCLG1 protein, human); EC 6.2.1.- (Succinate-CoA Ligases)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180212
[Lr] Data última revisão:
180212
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171209
[St] Status:MEDLINE


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[PMID]:28468959
[Au] Autor:De Franco E; Flanagan SE; Yagi T; Abreu D; Mahadevan J; Johnson MB; Jones G; Acosta F; Mulaudzi M; Lek N; Oh V; Petz O; Caswell R; Ellard S; Urano F; Hattersley AT
[Ad] Endereço:Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, U.K.
[Ti] Título:Dominant ER Stress-Inducing Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts.
[So] Source:Diabetes;66(7):2044-2053, 2017 07.
[Is] ISSN:1939-327X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Neonatal diabetes is frequently part of a complex syndrome with extrapancreatic features: 18 genes causing syndromic neonatal diabetes have been identified to date. There are still patients with neonatal diabetes who have novel genetic syndromes. We performed exome sequencing in a patient and his unrelated, unaffected parents to identify the genetic etiology of a syndrome characterized by neonatal diabetes, sensorineural deafness, and congenital cataracts. Further testing was performed in 311 patients with diabetes diagnosed before 1 year of age in whom all known genetic causes had been excluded. We identified 5 patients, including the initial case, with three heterozygous missense mutations in (4/5 confirmed de novo). They had diabetes diagnosed before 12 months (2 before 6 months) (5/5), sensorineural deafness diagnosed soon after birth (5/5), congenital cataracts (4/5), and hypotonia (4/5). In vitro studies showed that these mutations are functionally different from the known recessive Wolfram syndrome-causing mutations, as they tend to aggregate and induce robust endoplasmic reticulum stress. Our results establish specific dominant mutations as a cause of a novel syndrome including neonatal/infancy-onset diabetes, congenital cataracts, and sensorineural deafness. This syndrome has a discrete pathophysiology and differs genetically and clinically from recessive Wolfram syndrome.
[Mh] Termos MeSH primário: Catarata/genética
Surdez/genética
Diabetes Mellitus/genética
Perda Auditiva Neurossensorial/genética
Proteínas de Membrana/genética
Hipotonia Muscular/genética
[Mh] Termos MeSH secundário: Catarata/congênito
Criança
Pré-Escolar
Surdez/congênito
Estresse do Retículo Endoplasmático/genética
Feminino
Perda Auditiva Neurossensorial/congênito
Heterozigoto
Seres Humanos
Immunoblotting
Técnicas In Vitro
Lactente
Masculino
Hipotonia Muscular/congênito
Mutação de Sentido Incorreto
Fenótipo
Síndrome
Síndrome de Wolfram/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Membrane Proteins); 0 (wolframin protein)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:180108
[Lr] Data última revisão:
180108
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170505
[St] Status:MEDLINE
[do] DOI:10.2337/db16-1296


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[PMID]:28747166
[Au] Autor:Chan MMY; Barnicoat A; Mumtaz F; Aitchison M; Side L; Brittain H; Bates AWH; Gale DP
[Ad] Endereço:Centre for Nephrology, University College London, Royal Free Hospital, London, UK.
[Ti] Título:Cascade Fumarate Hydratase mutation screening allows early detection of kidney tumour: a case report.
[So] Source:BMC Med Genet;18(1):79, 2017 07 26.
[Is] ISSN:1471-2350
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Fumarate hydratase (FH) deficiency is a rare autosomal recessive disorder which results in a major defect in cellular metabolism. It presents in infancy with progressive encephalopathy, hypotonia, seizures and failure to thrive and is often fatal in childhood. It is caused by mutations in the FH gene (1q42.1) that result in deficiency of the citric acid cycle enzyme fumarate hydratase, resulting in accumulation of fumaric acid. Heterozygous germline mutations in the FH gene predispose to an aggressive autosomal dominant inherited early-onset kidney cancer syndrome: hereditary leiomyomatosis and renal cell cancer (HLRCC). CASE PRESENTATION: Cascade FH mutation screening enabled the early diagnosis of a renal tumour in an asymptomatic parent of a child with fumarate hydratase deficiency, resulting in timely and possibly life-saving treatment. CONCLUSION: While the theoretical risk of kidney cancer in parents of children with recessive fumarate hydratase deficiency is well recognized, to our knowledge this is the first report of a kidney tumour being detected in a parent by screening performed for this indication. This underscores the importance of offering lifelong kidney surveillance to such parents and other heterozygous relatives of children born with fumarate hydratase deficiency.
[Mh] Termos MeSH primário: Carcinoma de Células Renais/genética
Fumarato Hidratase/deficiência
Fumarato Hidratase/genética
Neoplasias Renais/genética
Erros Inatos do Metabolismo/genética
Hipotonia Muscular/genética
Transtornos Psicomotores/genética
[Mh] Termos MeSH secundário: Carcinoma de Células Renais/diagnóstico
Carcinoma de Células Renais/patologia
Detecção Precoce de Câncer
Feminino
Predisposição Genética para Doença
Mutação em Linhagem Germinativa
Seres Humanos
Lactente
Neoplasias Renais/complicações
Neoplasias Renais/diagnóstico
Neoplasias Renais/patologia
Erros Inatos do Metabolismo/complicações
Erros Inatos do Metabolismo/diagnóstico
Erros Inatos do Metabolismo/patologia
Hipotonia Muscular/complicações
Hipotonia Muscular/diagnóstico
Hipotonia Muscular/patologia
Transtornos Psicomotores/complicações
Transtornos Psicomotores/diagnóstico
Transtornos Psicomotores/patologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
EC 4.2.1.2 (Fumarate Hydratase)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:171231
[Lr] Data última revisão:
171231
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170728
[St] Status:MEDLINE
[do] DOI:10.1186/s12881-017-0436-1


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[PMID]:29100095
[Au] Autor:Nguyen TTM; Murakami Y; Sheridan E; Ehresmann S; Rousseau J; St-Denis A; Chai G; Ajeawung NF; Fairbrother L; Reimschisel T; Bateman A; Berry-Kravis E; Xia F; Tardif J; Parry DA; Logan CV; Diggle C; Bennett CP; Hattingh L; Rosenfeld JA; Perry MS; Parker MJ; Le Deist F; Zaki MS; Ignatius E; Isohanni P; Lönnqvist T; Carroll CJ; Johnson CA; Gleeson JG; Kinoshita T; Campeau PM
[Ad] Endereço:Centre Hospitalier Universitaire Sainte Justine Research Center, University of Montreal, Montreal, QC H3T1C5, Canada.
[Ti] Título:Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.
[So] Source:Am J Hum Genet;101(5):856-865, 2017 Nov 02.
[Is] ISSN:1537-6605
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Approximately one in every 200 mammalian proteins is anchored to the cell membrane through a glycosylphosphatidylinositol (GPI) anchor. These proteins play important roles notably in neurological development and function. To date, more than 20 genes have been implicated in the biogenesis of GPI-anchored proteins. GPAA1 (glycosylphosphatidylinositol anchor attachment 1) is an essential component of the transamidase complex along with PIGK, PIGS, PIGT, and PIGU (phosphatidylinositol-glycan biosynthesis classes K, S, T, and U, respectively). This complex orchestrates the attachment of the GPI anchor to the C terminus of precursor proteins in the endoplasmic reticulum. Here, we report bi-allelic mutations in GPAA1 in ten individuals from five families. Using whole-exome sequencing, we identified two frameshift mutations (c.981_993del [p.Gln327Hisfs 102] and c.920delG [p.Gly307Alafs 11]), one intronic splicing mutation (c.1164+5C>T), and six missense mutations (c.152C>T [p.Ser51Leu], c.160_161delinsAA [p.Ala54Asn], c.527G>C [p.Trp176Ser], c.869T>C [p.Leu290Pro], c.872T>C [p.Leu291Pro], and c.1165G>C [p.Ala389Pro]). Most individuals presented with global developmental delay, hypotonia, early-onset seizures, cerebellar atrophy, and osteopenia. The splicing mutation was found to decrease GPAA1 mRNA. Moreover, flow-cytometry analysis of five available individual samples showed that several GPI-anchored proteins had decreased cell-surface abundance in leukocytes (FLAER, CD16, and CD59) or fibroblasts (CD73 and CD109). Transduction of fibroblasts with a lentivirus encoding the wild-type protein partially rescued the deficiency of GPI-anchored proteins. These findings highlight the role of the transamidase complex in the development and function of the cerebellum and the skeletal system.
[Mh] Termos MeSH primário: Aciltransferases/genética
Atrofia/genética
Doenças Ósseas Metabólicas/genética
Deficiências do Desenvolvimento/genética
Epilepsia/genética
Glicoproteínas de Membrana/genética
Mutação/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Alelos
Cerebelo/patologia
Criança
Pré-Escolar
Exoma/genética
Feminino
Fibroblastos/patologia
Glicosilfosfatidilinositóis/genética
Seres Humanos
Masculino
Hipotonia Muscular/genética
Linhagem
RNA Mensageiro/genética
Convulsões/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (GPAA1 protein, human); 0 (Glycosylphosphatidylinositols); 0 (Membrane Glycoproteins); 0 (RNA, Messenger); EC 2.3.- (Acyltransferases); EC 2.3.2.- (COOH-terminal signal transamidase)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171118
[Lr] Data última revisão:
171118
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171104
[St] Status:MEDLINE


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[PMID]:28977587
[Au] Autor:Groeneweg S; Lima de Souza EC; Meima ME; Peeters RP; Visser WE; Visser TJ
[Ad] Endereço:The Rotterdam Thyroid Center & Department of Internal Medicine, Erasmus Medical Center, 3015 CN, Rotterdam, The Netherlands.
[Ti] Título:Outward-Open Model of Thyroid Hormone Transporter Monocarboxylate Transporter 8 Provides Novel Structural and Functional Insights.
[So] Source:Endocrinology;158(10):3292-3306, 2017 Oct 01.
[Is] ISSN:1945-7170
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Monocarboxylate transporter 8 (MCT8) facilitates cellular uptake and efflux of thyroid hormone (TH). Mutations in MCT8 result in severe intellectual and motor disability known as the Allan-Herndon-Dudley syndrome (AHDS). Previous studies have provided valuable insights into the putative mechanism of substrate binding in the inward-open conformation, required for TH efflux. The current study aims to delineate the mechanism of substrate binding in the outward-open conformation, required for TH uptake. Extensive chemical modification and site-directed mutagenesis studies were used to guide protein homology modeling of MCT8 in the outward-open conformation. Arg271 and Arg445 were modified by phenylglyoxal, which was partially prevented in the presence of substrate. Substrate docking in our outward-open model suggested an important role for His192 and Arg445 in substrate binding. Interestingly, mutations affecting these residues have been identified in patients who have AHDS. In addition, our outward-open model predicted the location of Phe189, Met227, Phe279, Gly282, Phe287, and Phe501 at the substrate-binding center, and their Ala substitution differentially affected the apparent Vmax and Km of T3 transport, with F189A, F279A, and F287A showing the highest impact. Thus, here we present an MCT8 homology model in the outward-open conformation, which supports the important role of His192 and Arg445 in substrate docking and identifies critical residues at the putative substrate-binding center. Our findings provide insights into MCT8 structure and function, which add to our understanding of the pathogenic mechanism of mutations found in patients who have AHDS and can be used to screen for novel substrates and inhibitors.
[Mh] Termos MeSH primário: Transportadores de Ácidos Monocarboxílicos/química
Transportadores de Ácidos Monocarboxílicos/fisiologia
Hormônios Tireóideos/metabolismo
[Mh] Termos MeSH secundário: Animais
Arginina
Sítios de Ligação/genética
Sítios de Ligação/fisiologia
Transporte Biológico/fisiologia
Células COS
Linhagem Celular
Cercopithecus aethiops
Histidina
Seres Humanos
Retardo Mental Ligado ao Cromossomo X/genética
Modelos Moleculares
Estrutura Molecular
Transportadores de Ácidos Monocarboxílicos/genética
Hipotonia Muscular/genética
Atrofia Muscular/genética
Mutagênese Sítio-Dirigida
Mutação
Conformação Proteica
Transfecção
Tri-Iodotironina/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Monocarboxylic Acid Transporters); 0 (SLC16A2 protein, human); 0 (Thyroid Hormones); 06LU7C9H1V (Triiodothyronine); 4QD397987E (Histidine); 94ZLA3W45F (Arginine)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171013
[Lr] Data última revisão:
171013
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:171005
[St] Status:MEDLINE
[do] DOI:10.1210/en.2017-00082


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[PMID]:28880982
[Au] Autor:Fox TP; Schwartz JA; Chang AC; Parvin-Nejad FP; Yim CK; Feinsilver SH; Wu AY
[Ad] Endereço:Department of Ophthalmology, Icahn School of Medicine at Mount Sinai, New York, New York.
[Ti] Título:Association Between Eyelid Laxity and Obstructive Sleep Apnea.
[So] Source:JAMA Ophthalmol;135(10):1055-1061, 2017 Oct 01.
[Is] ISSN:2168-6173
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Importance: While much has been reported on the relationship between floppy eyelid syndrome and obstructive sleep apnea (OSA), the diagnostic criteria of floppy eyelid syndrome are often subjective and vague. Objective: To evaluate the association between OSA and quantitative markers of eyelid laxity or secondary ocular surface disease in a sleep clinic population. Design, Setting, and Participants: This investigation was a cross-sectional observational study at the Center for Sleep Medicine at Icahn School of Medicine at Mount Sinai. Participants were individuals referred for overnight polysomnography from March 1 to August 30, 2015. Main Outcomes and Measures: Eyelid laxity and ocular surface disease were assessed on bedside ophthalmologic examination. The presence and severity of OSA were determined from polysomnography results. Initial correlation between OSA and ocular surface and eyelid markers was calculated through bivariate linear regression analysis, and the association between ocular symptoms was obtained through bivariate ordered logistic regression. Analysis was repeated adjusting for known associations between OSA and sex, age, body mass index, and medical comorbidities through multivariable analysis. Results: In total, 201 individuals (402 eyes) were enrolled in the study. Their mean (SD) age was 53.2 (13.5) years, 43.3% (n = 87) were female, 56.7% (n = 114) were of white race/ethnicity, 26.9% (n = 54) were black/African American, 4.0% (n = 8) were Asian, 8.0% (n = 16) were multiracial or other, and 4.5% (n = 9) were of unknown race/ethnicity, with 21.9% (n = 44) of all individuals self-identifying as Hispanic and 75.1% (n = 151) self-identifying as non-Hispanic. After adjustment, no association was observed between OSA severity and an eyelid laxity score (regression coefficient, 0.85; 95% CI, -0.33 to 0.62; P = .40) or an ocular surface score (regression coefficient, 1.09; 95% CI, -0.32 to 0.29; P = .93). Through subset analysis, male sex was associated with a higher ocular surface score, while older age and diabetes were associated with a higher eyelid laxity score. Only one patient (0.5%) exhibited findings of floppy eyelid syndrome. Conclusions and Relevance: Among individuals referred for overnight polysomnography, quantitative markers of eyelid laxity were not associated with the presence or severity of OSA. Subset analysis suggests that prior studies may have been limited by confounding variables or the technique of identifying eyelid laxity.
[Mh] Termos MeSH primário: Doenças Palpebrais/diagnóstico
Apneia Obstrutiva do Sono/diagnóstico
[Mh] Termos MeSH secundário: Adulto
Idoso
Estudos Transversais
Doenças Palpebrais/fisiopatologia
Feminino
Seres Humanos
Masculino
Meia-Idade
Hipotonia Muscular/diagnóstico
Hipotonia Muscular/fisiopatologia
Polissonografia
Estudos Prospectivos
Fatores de Risco
Apneia Obstrutiva do Sono/fisiopatologia
Síndrome
[Pt] Tipo de publicação:JOURNAL ARTICLE; OBSERVATIONAL STUDY
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171023
[Lr] Data última revisão:
171023
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170908
[St] Status:MEDLINE
[do] DOI:10.1001/jamaophthalmol.2017.3263


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[PMID]:28870985
[Au] Autor:Shapiro L; Chatterjee S; Ramadan DG; Davies KM; Savage MO; Metherell LA; Storr HL
[Ad] Endereço:Centre for EndocrinologyWilliam Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
[Ti] Título:Whole-exome sequencing gives additional benefits compared to candidate gene sequencing in the molecular diagnosis of children with growth hormone or IGF-1 insensitivity.
[So] Source:Eur J Endocrinol;177(6):485-501, 2017 Dec.
[Is] ISSN:1479-683X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: GH insensitivity (GHI) is characterised by short stature, IGF-1 deficiency and normal/elevated serum GH. IGF-1 insensitivity results in pre- and post-natal growth failure with normal/high IGF-1 levels. The prevalence of genetic defects is unknown. OBJECTIVE: To identify the underlying genetic diagnoses in a paediatric cohort with GH or IGF-1 insensitivity using candidate gene (CGS) and whole-exome sequencing (WES) and assess factors associated with the discovery of a genetic defect. METHODS: We undertook a prospective study of 132 patients with short stature and suspected GH or IGF-1 insensitivity referred to our centre for genetic analysis. 107 (96 GHI, 88 probands; 11 IGF-1 insensitivity, 9 probands) underwent CGS. WES was performed in those with no defined genetic aetiology following CGS. RESULTS: A genetic diagnosis was discovered 38/107 (36%) patients (32% probands) by CGS. WES revealed 11 patients with genetic variants in genes known to cause short stature. A further 2 patients had hypomethylation in the H19/IGF2 region or mUPD7 consistent with Silver-Russell Syndrome (total with genetic diagnosis 51/107, 48% or 41/97, 42% probands). WES also identified homozygous putative variants in and in 2 patients. Low height SDS and consanguinity were highly predictive for identifying a genetic defect. CONCLUSIONS: Comprehensive genetic testing confirms the genetic heterogeneity of GH/IGF-1 insensitivity and successfully identified the genetic aetiology in a significant proportion of cases. WES is rapid and may isolate genetic variants that have been missed by traditional clinically driven genetic testing. This emphasises the benefits of specialist diagnostic centres.
[Mh] Termos MeSH primário: Nanismo/genética
Transtornos do Crescimento/genética
Hipotonia Muscular/genética
Síndrome de Silver-Russell/genética
Coluna Vertebral/anormalidades
[Mh] Termos MeSH secundário: Adolescente
Proteínas de Transporte/genética
Criança
Pré-Escolar
Proteínas Culina/genética
Proteínas do Citoesqueleto/genética
Metilação de DNA
Nanismo/diagnóstico
Nanismo/metabolismo
Exoma/genética
Proteína do Grupo de Complementação A da Anemia de Fanconi/genética
Feminino
Glicoproteínas/genética
Transtornos do Crescimento/diagnóstico
Transtornos do Crescimento/metabolismo
Hormônio do Crescimento Humano/metabolismo
Seres Humanos
Lactente
Fator de Crescimento Insulin-Like I/metabolismo
Fator de Crescimento Insulin-Like II/genética
Masculino
Técnicas de Diagnóstico Molecular
Hipotonia Muscular/diagnóstico
Hipotonia Muscular/metabolismo
Receptores de Somatomedina/genética
Análise de Sequência de DNA
Síndrome de Silver-Russell/diagnóstico
Síndrome de Silver-Russell/metabolismo
Coluna Vertebral/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (CUL7 protein, human); 0 (Carrier Proteins); 0 (Cullin Proteins); 0 (Cytoskeletal Proteins); 0 (FANCA protein, human); 0 (Fanconi Anemia Complementation Group A Protein); 0 (Glycoproteins); 0 (IGF1R protein, human); 0 (IGF2 protein, human); 0 (OBSL1 protein, human); 0 (Receptors, Somatomedin); 0 (insulin-like growth factor binding protein, acid labile subunit); 0 (somatotropin-binding protein); 12629-01-5 (Human Growth Hormone); 67763-96-6 (Insulin-Like Growth Factor I); 67763-97-7 (Insulin-Like Growth Factor II)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171106
[Lr] Data última revisão:
171106
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170906
[St] Status:MEDLINE
[do] DOI:10.1530/EJE-17-0453


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[PMID]:28774766
[Au] Autor:Suneja U; Castillo C; Disla A; Buyukgoz C; Burdea L; Sitnitskaya Y; Agyare S; Gold M; Prokhorov S
[Ad] Endereço:Children Hospital at OU Medical Center, Oklahoma, United States. Electronic address: upma-suneja@ouhsc.edu.
[Ti] Título:Acute upper extremity flaccid paralysis in a 5year old child secondary to enterovirus infection.
[So] Source:Am J Emerg Med;35(10):1586.e1-1586.e2, 2017 Oct.
[Is] ISSN:1532-8171
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The incidence of acute flaccid paralysis has been on a declining trend with the global efforts on eradication of polio virus. A few scattered clusters of acute flaccid paralysis associated with pathogens like enterovirus other than polio virus and flaviviruses have recently come to limelight. This is a case of acute onset flaccid paralysis of left upper extremity in a fully immunized 5 year old child in New York.
[Mh] Termos MeSH primário: Infecções por Enterovirus/complicações
Paralisia/etiologia
Extremidade Superior
[Mh] Termos MeSH secundário: Pré-Escolar
Infecções por Enterovirus/diagnóstico
Feminino
Seres Humanos
Imagem por Ressonância Magnética
Hipotonia Muscular
Paralisia/diagnóstico
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171012
[Lr] Data última revisão:
171012
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170805
[St] Status:MEDLINE


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[PMID]:28662944
[Au] Autor:Matthews E; Silwal A; Sud R; Hanna MG; Manzur AY; Muntoni F; Munot P
[Ad] Endereço:Medical Research Council Center for Neuromuscular Diseases, University College London and National Hospital for Neurology and Neurosurgery, London, UK. Electronic address: emma.matthews@ucl.ac.uk.
[Ti] Título:Skeletal Muscle Channelopathies: Rare Disorders with Common Pediatric Symptoms.
[So] Source:J Pediatr;188:181-185.e6, 2017 Sep.
[Is] ISSN:1097-6833
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To ascertain the presenting symptoms of children with skeletal muscle channelopathies to promote early diagnosis and treatment. STUDY DESIGN: Retrospective case review of 38 children with a skeletal muscle channelopathy attending the specialist pediatric neuromuscular service at Great Ormond Street Hospital over a 15-year period. RESULTS: Gait disorder and leg cramps are a frequent presentation of myotonic disorders (19 of 29). Strabismus or extraocular myotonia (9 of 19) and respiratory and/or bulbar symptoms (11 of 19) are common among those with sodium channelopathy. Neonatal hypotonia was observed in periodic paralysis. Scoliosis and/or contractures were demonstrated in 6 of 38 children. School attendance or ability to engage fully in all activities was often limited (25 of 38). CONCLUSIONS: Children with skeletal muscle channelopathies frequently display symptoms that are uncommon in adult disease. Any child presenting with abnormal gait, leg cramps, or strabismus, especially if intermittent, should prompt examination for myotonia. Those with sodium channel disease should be monitored for respiratory or bulbar complications. Neonatal hypotonia can herald periodic paralysis. Early diagnosis is essential for children to reach their full educational potential.
[Mh] Termos MeSH primário: Canalopatias/complicações
Transtornos Miotônicos/diagnóstico
Canais de Sódio/genética
[Mh] Termos MeSH secundário: Absenteísmo
Adolescente
Obstrução das Vias Respiratórias
Canalopatias/diagnóstico
Criança
Pré-Escolar
Contratura/etiologia
Diplopia/etiologia
Feminino
Transtornos Neurológicos da Marcha
Seres Humanos
Lactente
Recém-Nascido
Masculino
Cãibra Muscular/etiologia
Hipotonia Muscular/etiologia
Transtornos Miotônicos/genética
Canal de Sódio Disparado por Voltagem NAV1.4/genética
Sons Respiratórios/etiologia
Estudos Retrospectivos
Escoliose/etiologia
Estrabismo/etiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (NAV1.4 Voltage-Gated Sodium Channel); 0 (SCN4A protein, human); 0 (Sodium Channels)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170911
[Lr] Data última revisão:
170911
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170701
[St] Status:MEDLINE



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