Objective The giant protein titin is essential for striated muscle development, structure, and
elasticity. All titin mutations reported to date cause late‐onset, dominant disorders involving …

Methods. The testicular biopsies from 230 infertile male patients were independently reviewed
by two experienced pathologists (MR and ACR). The biopsies were performed at King …

Objective: To report on the clinical and biochemical features of patients who presented with
stroke due to mitochondrial disorders amongst a prospective and retrospective cohort of …

Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a neonatal intestinal
syndrome, characterized by defective peristalsis and bladder dilatation, refractory to …

Nonketotic hyperglycinemia (NKH) is an autosomal recessively inherited disorder of the
glycine degradation pathway leading to accumulation of glycine in body fluids and tissues. …

Though autopsy studies demonstrated 5% metastasis to the brain, clinical presentation of a
central nervous system metastasis from gallbladder cancer is rare. We report a case of a 72-…

To report on the clinical and biochemical features of patients who presented with stroke due
to mitochondrial disorders amongst a prospective and retrospective cohort of Saudi children. …

Discussion These cases illustrate the typical features of GCA, which form the criteria selected
by the American College of Rheumatology for the format classification of GCA and include …

To determine the predominant histopathological patterns seen in the testicular biopsies taken
during the investigation of male infertility and to compare the obtained histopathological …

Intratubular germ cell neoplasia has been described as a premalignant state with the
potential to progress to invasive carcinoma of the testis. We determined the prevalence of …