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1.
Genet Test Mol Biomarkers ; 28(6): 257-262, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38721948

RESUMEN

Background: Wolfram syndrome (WFS) is an autosomal recessive disorder that often leads to diabetes, optic atrophy, and sensorineural hearing loss. The aim of this study was to determine the clinical characteristics and the genetic cause of the first two Moroccan families presenting with WFS. Methods: The clinical features of five members of two WFS families were evaluated. Whole-exome sequencing was conducted to explore the underlying genetic cause in the affected patients. Results: Two homozygous variants in the WFS1 gene were identified, each in one of the two families studied: a missense c.1329C>G variant (p.Ser443Arg) and a nonsense mutation c.1113G>A (p.Trp371Ter). These variants affected conserved amino acid residues, segregated well in the two families, and are absent from genetic databases and in controls of Moroccan origin. Bioinformatics analysis classified the two variants as pathogenic by in silico tools and molecular modeling. Conclusion: Our study identified for the first time two variants in Moroccan patients with WFS that extends the mutational spectrum associated with the disease.


Asunto(s)
Proteínas de la Membrana , Mutación Missense , Linaje , Síndrome de Wolfram , Adolescente , Adulto , Niño , Femenino , Humanos , Masculino , Codón sin Sentido/genética , Secuenciación del Exoma/métodos , Homocigoto , Proteínas de la Membrana/genética , Marruecos , Mutación , Mutación Missense/genética , Síndrome de Wolfram/genética , Adulto Joven
2.
Pan Afr Med J ; 24: 112, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-27642451

RESUMEN

Suicidal behavior among children has significantly increased in Morocco. We conducted a study on the epidemiological aspect to propose a treatment strategy. Descriptive retrospective study over a period of 3 years (April 2012-April 2015) involving children who visited pediatric medical emergencies of the Children Hospital of Rabat after an autolysis attempt. We observed epidemiological parameters, history, social and family context, the means used, the presumed cause, clinical manifestation, and the management. 66 patients were identified. A female predominance was found (sex =15). The average age was 13 years old. This was a first episode in 97% of cases. Psychiatric history was found in 6 patients. The causes of suicide attempt were unidentified in 65%. The most frequent cause was family conflict (35%). The most frequent method was pharmaceutical drug ingestion (54.4%). Children were asymptomatic (57.6%). Neurological manifestations (30%) were most frequent. Digestive symptoms (12%) and hemodynamic (3%) were also discovered. Patients were hospitalized in a general pediatric service 92.4% of the times, admitted to intensive care 4.5% of the times, and two patients refused to be hospitalized. The treatment consisted of gastric lavage (18%) supplemented by symptomatic measures. The outcome was favorable in 95.4% of cases. We recorded 2 deaths by rat poison poisoning. All patients were advised in writing after leaving to follow up with a psychological treatment. Suicide attempts are the result of an ill being, mostly among children living in a family with conflict. Upstream treatment is essential to identify children at risk. Additionally, a psychiatric care in hospital is essential to avoid recurrences.


Asunto(s)
Conflicto Familiar/psicología , Trastornos Mentales/epidemiología , Intento de Suicidio/estadística & datos numéricos , Suicidio/estadística & datos numéricos , Adolescente , Niño , Femenino , Lavado Gástrico/métodos , Hospitalización/estadística & datos numéricos , Hospitales Pediátricos , Humanos , Masculino , Marruecos/epidemiología , Estudios Retrospectivos , Distribución por Sexo , Intento de Suicidio/psicología
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