Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterized by hypotonia,
ataxia, abnormal eye movements, and variable cognitive impairment. It is defined by a …

Unlike disorders of primary cilium, primary ciliary dyskinesia (PCD) has a much narrower
clinical spectrum consistent with the limited tissue distribution of motile cilia. Nonetheless, PCD …

Background Hemophagocytic lymphohistiocytosis (HLH) is a rare and potentially fatal syndrome
that is characterized by strong activation of the immune system from hyperinflammatory …

Objective Snodgrass urethroplasty remains the preferred technique in primary distal hypospadias
but development of meatal stenosis often limits distal extension of the midline incision …

Background Very long‐chain fatty acids (VLCFAs) composed of more than 20 carbon atoms
are essential in the biosynthesis of cell membranes in the brain, skin, and retina. VLCFAs …

… 7 , Talal Alanzi …

Objectives: To develop and validate a scoring system to assess the need for emergency
intervention (EI) in patients with uncomplicated acute renal colic (ARC) due to ureteric stones. …

Adenosine deaminase 2 deficiency (DADA2), a rare and potentially fatal systemic
autoinflammatory disease, is characterized by low or lack of ADA2 activity due to ADA2 mutations. …

Homozygous or compound heterozygous pathogenic variants of the RBCK1 gene can
result in a systemic disorder characterized by the accumulation of complex carbohydrate …

BACKGROUND: Neurosensory impairment is a common complication following inferior
alveolar nerve (IAN) damage. OBJECTIVE: To document and report the various causes, …