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1.
Hum Mutat ; 41(5): 973-982, 2020 05.
Artigo em Inglês | MEDLINE | ID: mdl-31944481

RESUMO

Gastrointestinal motility disorders include a spectrum of mild to severe clinical phenotypes that are caused by smooth muscle dysfunction. We investigated the genetic etiology of severe esophageal, gastric, and colonic dysmotility in two unrelated families with autosomal dominant disease presentation. Using exome sequencing, we identified a 2 base pair insertion at the end of the myosin heavy chain 11 (MYH11) gene in all affected members of Family 1 [NM_001040113:c.5819_5820insCA(p.Gln1941Asnfs*91)] and a 1 base pair deletion at the same genetic locus in Proband 2 [NM_001040113:c.5819del(p.Pro1940Hisfs*91)]. Both variants are predicted to result in a similarly elongated protein product. Heterozygous dominant negative MYH11 pathogenic variants have been associated with thoracic aortic aneurysm and dissection while biallelic null alleles have been associated with megacystis microcolon intestinal hypoperistalsis syndrome. This report highlights heterozygous protein-elongating MYH11 variants affecting the SM2 isoforms of MYH11 as a cause for severe gastrointestinal dysmotility, and we hypothesize that the mechanistic pathogenesis of this disease, dominant hypercontractile loss-of-function, is distinct from those implicated in other diseases involving MYH11 dysfunction.


Assuntos
Estudos de Associação Genética , Predisposição Genética para Doença , Músculo Liso/metabolismo , Músculo Liso/fisiopatologia , Mutação , Cadeias Pesadas de Miosina/genética , Fenótipo , Adulto , Criança , Análise Mutacional de DNA , Eletromiografia , Endoscopia do Sistema Digestório , Transtornos da Motilidade Esofágica/diagnóstico , Transtornos da Motilidade Esofágica/genética , Feminino , Gastroparesia/diagnóstico , Gastroparesia/genética , Estudos de Associação Genética/métodos , Estudo de Associação Genômica Ampla , Humanos , Lactente , Enteropatias/diagnóstico , Enteropatias/genética , Masculino , Pessoa de Meia-Idade , Linhagem , Polimorfismo de Nucleotídeo Único , Radiografia , Síndrome , Adulto Jovem
3.
Clin Imaging ; 39(2): 321-4, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25432397

RESUMO

We present a unique case of juvenile polyposis and hereditary hemorrhagic telangiectasia overlap syndrome. The patient was found to have polyps on colonoscopy leading to genetic testing revealing an SMAD4 mutation. In children with SMAD4 mutation and juvenile polyposis, this overlap syndrome needs to be considered in the differential diagnosis and prompt the clinician to look for telangiectasias on examination and consider surveillance imaging to look for arteriovenous malformations. Our case highlights this clinical relationship and shows how nontraditional imaging using computed tomography colonography (CTC) can provide complimentary information along with colonoscopy. Despite low-dose techniques, CTC does add a radiation burden in the evaluation of these children who are at high risk for malignancy and should be used cautiously.


Assuntos
Colonografia Tomográfica Computadorizada , Colonoscopia , Polipose Intestinal/congênito , Síndromes Neoplásicas Hereditárias/diagnóstico , Telangiectasia Hemorrágica Hereditária/diagnóstico , Adolescente , Colo/diagnóstico por imagem , Colo/patologia , Diagnóstico Diferencial , Humanos , Polipose Intestinal/diagnóstico , Masculino , Mutação , Proteína Smad4/genética
4.
Case Rep Pediatr ; 2011: 748543, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-22606522

RESUMO

A 10-year-old boy presented with a 3-day history of worsening abdominal pain, fever, emesis and melena. Abdominal ultrasound revealed a right upper quadrant mass that was confirmed by computed tomography angiogram (CTA), which showed an 8 cm well-defined retroperitoneal vascular mass. (123)Iodine metaiodobenzylguanidine ((123)MIBG) scan indicated uptake only in the abdominal mass. Subsequent biopsy revealed a paraganglioma that was treated with chemotherapy. This case represents an unusual presentation of a paraganglioma associated with gastrointestinal (GI) bleeding and highlights the utility of CTA and (123)MIBG in evaluation and treatment.

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