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1.
Bahrain Medical Bulletin. 2016; 38 (1): 56-58
em Inglês | IMEMR | ID: emr-175712

RESUMO

We report a two-year-old Indonesian female who presented with vomiting and weight loss for more than one month and was ultimately diagnosed with duodenal obstruction due to a windsock deformity. This is a rare and intrinsic congenital anomaly of the duodenum. The diagnosis as well as immediate and conclusive surgical management is discussed


Assuntos
Pré-Escolar , Feminino , Humanos , Obstrução Duodenal/etiologia , Obstrução Duodenal/cirurgia , Obstrução Duodenal/congênito , Vômito , Redução de Peso
2.
Bahrain Medical Bulletin. 2016; 38 (4): 233-235
em Inglês | IMEMR | ID: emr-184274

RESUMO

A one-month-old baby girl with spinal muscular atrophy type 1 with generalized muscle weakness is presented. She was fully investigated and diagnosed with spinal muscular atrophy type 1. She was managed conservatively and with supportive treatment. She died at the age of 13 months. Spinal Muscular Atrophy [SMA] is a non-curative disease with a wide degree of clinical and genetic heterogeneity that we must take into consideration because of the serious prognosis. It targets the muscles which result in weakness and atrophy. Several therapeutic approaches have been proposed and investigated. They are focused on increasing the availability of Survival of Motor Neuron [SMN] protein which has been found effective when tried in animal modelling studies

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