Ibrahim Shammas
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View article: Epidemiological and clinicopathological characteristics of ovarian cancer in Syria during the war years: a national multicenter retrospective study (2017–2021)
Epidemiological and clinicopathological characteristics of ovarian cancer in Syria during the war years: a national multicenter retrospective study (2017–2021) Open
View article: ALG13 loss-of-function alters glycosylation, impairs neuronal maturation, and drives network hypoactivity in a cortical organoid model of CDG
ALG13 loss-of-function alters glycosylation, impairs neuronal maturation, and drives network hypoactivity in a cortical organoid model of CDG Open
Background Congenital disorders of glycosylation (CDGs) are a group of rare metabolic diseases recognized for their neurological presentations, including developmental delay and seizures. However, the link between glycosylation defects and…
View article: PGM1 deficiency disrupts sarcomere and mitochondrial function in a stem-cell cardiomyocyte model
PGM1 deficiency disrupts sarcomere and mitochondrial function in a stem-cell cardiomyocyte model Open
Background Phosphoglucomutase-1 (PGM1) plays a pivotal role in glycolysis, glycogen metabolism, and glycosylation. Pathogenic variants in PGM1 cause PGM1-congenital disorder of glycosylation (PGM1-CDG), a multisystem disorder with cardiac …
View article: Increased Risk of Myocardial Infarction in Inclusion Body Myositis: A Non‐Concurrent Cohort Study
Increased Risk of Myocardial Infarction in Inclusion Body Myositis: A Non‐Concurrent Cohort Study Open
Background Idiopathic inflammatory myopathies, beyond inclusion body myositis ( IBM ), have demonstrated an increased risk of adverse cardiovascular outcomes, particularly myocardial infarction ( MI ). This study evaluated the risk of card…
View article: Case report: Novel genotype of ALG2-CDG and confirmation of the heptasaccharide glycan (NeuAc-Gal-GlcNAc-Man2-GlcNAc2) as a specific diagnostic biomarker
Case report: Novel genotype of ALG2-CDG and confirmation of the heptasaccharide glycan (NeuAc-Gal-GlcNAc-Man2-GlcNAc2) as a specific diagnostic biomarker Open
This report outlines the case of a child affected by a type of congenital disorder of glycosylation (CDG) known as ALG2-CDG ( OMIM 607906 ), presenting as a congenital myasthenic syndrome (CMS) caused by variants identified in ALG2 , which…
View article: Filamin C-Associated Nemaline Myopathy
Filamin C-Associated Nemaline Myopathy Open
Pathogenic variants in FLNC are associated with myofibrillar myopathy manifesting with either limb girdle-predominant or distal-predominant weakness. 1A 71-year-old man presented with mild generalized fatigue.Neurologic examination showed …
View article: ALG13-Congenital Disorder of Glycosylation (ALG13-CDG): Updated clinical and molecular review and clinical management guidelines
ALG13-Congenital Disorder of Glycosylation (ALG13-CDG): Updated clinical and molecular review and clinical management guidelines Open
View article: Guillan-barre syndrome during COVID-19 pandemic: a case series from Syria
Guillan-barre syndrome during COVID-19 pandemic: a case series from Syria Open
Background: The Coronavirus was first discovered in December 2019 and quickly it turned into a pandemic called coronavirus disease 2019 (COVID-19). The main symptoms of infection with this virus were constitutional and respiratory symptoms…
View article: Gastric outlet obstruction as a rare presentation of peritoneal hydatid disease: A case report
Gastric outlet obstruction as a rare presentation of peritoneal hydatid disease: A case report Open
Introduction and importance: Peritoneal hydatid cyst is a rare disease which transplants by eggs of Echinococcus. Peritoneal cysts are divided into primary and secondary. This case shows an unusual manifestation of peritoneal hydatid cysts…