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1.
Pan Afr Med J ; 41: 67, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35371381

RESUMO

Polysplenia syndrome mainly described in pediatrics; rarely and incidentally in adulthood. Most patients had their diagnosis done during childhood due to the frequent association to cardiac anomalies that speak for themselves earlier in life. Multiple spleens, cardiac defect and vascular malformation of the inferior vena cava with azygos or hemiazygos continuation are the most frequent observed malformations. Our patient was one this rarest adulthood incidental diagnosis, who presented in the emergency department for nephritic colic, and while imaging for this, multiples spleens and other visceral malformations were diagnosed. Hopefully, cardiac ultrasound hadn't showed any cardiac malformation and the patient was discharged aware of this condition. Through this publication we report the possible incidental diagnosis of polysplenia condition and highlight the fact that people with such important malformation can lead a normal life, and only awareness should be given for future surgeries, instrumental treatment or else.


Assuntos
Síndrome de Heterotaxia , Adulto , Criança , Ecocardiografia , Síndrome de Heterotaxia/diagnóstico por imagem , Humanos , Veia Cava Inferior/diagnóstico por imagem
2.
Pan Afr Med J ; 27: 116, 2017.
Artigo em Francês | MEDLINE | ID: mdl-28819537

RESUMO

The aim of this study was to determine the prevalence of NOD2/CARD15 gene mutations in a group of Moroccan patients with Crohn's disease and to study its correlation with genotype-phenotypic expression. We conducted a cross-sectional case-control study over a period of 16 months. 101 patients with Crohn's disease were enrolled between January 2012 and April 2013 as well as a control group of 107 patients. We performed a genetic analysis to identify 3 NOD2 gene variants: p.Arg702Trp, p.Gly908Arg and p.Leu1007fsins. Then we conducted a study of the correlation between genotype and phenotypic expression. The genetic analysis of patients with Crohn's disease highlighted the presence of NOD2 mutation in 14 patients (13.77%) versus 7 patients (6.53%) in the control group. The study of the frequency of different alleles showed p.Gly908Arg mutation in 6.43%, p.Leu1007fsins in 0.99% and p.Arg702Trp in 0.49% versus 2.80%, 0% and 0.46% in the control group respectively. The study of the correlation between genotype and phenotypic expression showed that CARD15 mutation is associated with ileocecal Crohn's disease, with fistulizing and stenosing behavior in Crohn's disease as well as with severe evolution and frequent recourse to surgery and immunosuppressants. The prevalence of NOD2/ CARD15 mutation in our case series is low. This mutation is correlated with severe Crohn's disease.


Assuntos
Doença de Crohn/genética , Predisposição Genética para Doença , Proteína Adaptadora de Sinalização NOD2/genética , Adolescente , Adulto , Alelos , Estudos de Casos e Controles , Criança , Doença de Crohn/fisiopatologia , Estudos Transversais , Feminino , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Marrocos , Mutação , Fenótipo , Prevalência , Índice de Gravidade de Doença , Adulto Jovem
3.
Clin Res Hepatol Gastroenterol ; 38(3): e45-9, 2014 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-23623447

RESUMO

Dysphagia lusoria is a rare cause of organic dysphagia. This report describes a series of six patients admitted to our university hospital for dysphagia lusoria. Dysphagia was a constant feature in all our patients. Upper gastrointestinal endoscopy and a barium esophagram prompted the diagnosis, which was confirmed by angiography of the aortic arch showing an aberrant right subclavian artery in all cases. Treatment was surgical in all patients with good results.


Assuntos
Transtornos de Deglutição/etiologia , Artéria Subclávia/anormalidades , Adulto , Aorta Torácica/diagnóstico por imagem , Transtornos de Deglutição/cirurgia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Radiografia , Artéria Subclávia/diagnóstico por imagem , Artéria Subclávia/cirurgia , Adulto Jovem
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