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

RESUMEN

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


Asunto(s)
Preescolar , Femenino , Humanos , Obstrucción Duodenal/etiología , Obstrucción Duodenal/cirugía , Obstrucción Duodenal/congénito , Vómitos , Pérdida de Peso
2.
Bahrain Medical Bulletin. 2016; 38 (4): 233-235
en Inglés | IMEMR | ID: emr-184274

RESUMEN

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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