Annals of Saudi medicine
-
The liver transplantation program at KFSHRC has been active since 2001. More than 450 liver transplants have been performed so far. ⋯ The 1-year survival of patients for both pediatric and adult exceeded 90% and the 5-year survival of patients is more than 80%. Associated with this success are challenges that include: organ shortage, quality of organ harvested, inability to meet the growing national need, increased demand of resource to meet the need of the program, and lack of a collaborative national strategy in organ donation and transplantation.
-
Annals of Saudi medicine · Mar 2014
Clinical, neuroimaging, and genetic features of L-2-hydroxyglutaric aciduria in Arab kindreds.
L-2-hydroxyglutaric aciduria is a neurometabolic disorder with autosomal recessive mode of inheritance in which patients exhibit elevated L-2-hydroxyglutaric acid in body fluids, central nervous system manifestations, and increased risk of brain tumor formation. Mutations in L2HGDH gene have been described in L-2-hydroxyglutaric aciduria patients of different ethnicities. The present study was conducted to perform a detailed clinical, imaging and genetic analysis. ⋯ The detailed description of clinical manifestations and L2HGDH mutation in this study is useful for diagnosis of L-2-hydroxyglutaric aciduria in Arab patients. While reoccurrence of an L2HGDH mutation in L-2-hydroxyglutaric aciduria patients of different ethnicity is extremely rare, the c.169G mutation has an independent origin in Arab patients. It is likely that this mutation may also be present in patients of other ethnicities.
-
Annals of Saudi medicine · Mar 2014
Case ReportsA novel MPV17 gene mutation in a Saudi infant causing fatal progressive liver failure.
We describe in this report the clinical, biochemical, and molecular features of a Saudi infant with hepatocerebral MDS secondary to a novel homozygous mutation in the MPV17 gene. An automated sequencing of the nuclear MPV17 gene was performed. The coding region (7 exons) of the MPV17 gene was amplified using an M13-tagged intronic primer and screened by direct sequencing of the PCR-amplified products (GenBank Association Number NM_002437.4). ⋯ This particular sequence variant has not been previously reported as a single-nucleotide polymorphism (SNP) or pathogenic mutation. Diagnostic workup for neonatal liver disorders should include mutation screening for known genes. The new advances in molecular genetics can help clinicians establish the diagnosis in a timely fashion, which may prevent a child from undergoing invasive and expensive investigations.
-
Annals of Saudi medicine · Mar 2014
Medical students preference of problem-based learning or traditional lectures in King Abdulaziz University, Jeddah, Saudi Arabia.
Problem-based learning (PBL) is the most important educational innovations in the past 4 decades. The objective of the study was to compare between the preference of medical students for PBL and the preference for traditional lectures regarding learning outcomes (e.g., knowledge, attitude, and skills) gained from both methods. ⋯ Students preferred PBL more to traditional lectures for improving most of learning outcome domains, especially, learning attitudes and skills. Introducing hybrid-PBL curriculum in all Saudi universities is highly recommended.
-
Annals of Saudi medicine · Mar 2014
Review Case ReportsCutaneous composite hemangioendothelioma: case report and review of published reports.
Composite hemangioendothelioma (CHE) is a rare, locally aggressive, vascular tumor of intermediate-/ low-grade malignancy, and is characterized by varying combinations of benign, low-grade malignant, and malignant vascular components. In cutaneous localization, only 22 cases have been reported so far. A new case of CHE of the gluteal region in a 58-year-old man is described. ⋯ No recurrent disease was noted 3 months after the surgery. The present case displayed the following features previously undescribed in CHE: a novel component of sinusoidal hemangioma and localization at the gluteal region. We also provide review of clinical, histopathological, and immunohistochemical characteristics of cutaneous CHE from the published cases.