Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
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J Coll Physicians Surg Pak · Dec 2022
Review Case ReportsSRD5A3-CDG: A Patient with a Novel Variant and Brain Neoplasm.
Congenital disorders of glycosylation (CDGs) are a large group of genetic diseases with impaired glycosylation of glycoproteins and glycolipids, and glycosylphosphatidylinositol anchor synthesis. Steroid 5α-reductase 3 (SRD5A3)-CDG is a CDG type I with a clinical spectrum of neurological, ophthalmological, dermatological and hepatic symptoms. ⋯ Also, a review of the literature is made regarding the multisystem effects of the disease. Key Words: SRD5A3-CDG, Glioma, Glycosylation, Transferrin isoelectric focusing, Congenital disorders of glycosylation.
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The present article aimed to give an overview of sternal fractures and discuss their management and prognoses. The retrieved pertinent publications of 2011-2021 constituted the materials of the present study. The misdiagnosis rate of X-ray was 5.5% and that of sonography was 6.3% for diagnosing the sternal fractures. ⋯ Intrathoracic injuries, especially life-threatening cardiopulmonary injuries that are complicated to sternal fractures warrant resuscitation and corresponding active treatment. The causes of patients' death with sternal fractures were usually not related to the sternum fracture itself, but mostly to the associated injuries. Key Words: Fracture, Sternum, Trauma.