Congenital Hypotonia: Cracking a SAGA of consanguineous kindred harboring four genetic variants.

Background: We aimed to determine the molecular and biochemical basis of an extended highly consanguineous family with multiple children presenting severe congenital hypotonia.

Methods: Clinical investigations, homozygosity mapping, linkage analyses and whole exome sequencing, were performed. mRNA and protein levels were determined.

The significance of bradycardia in anorexia nervosa.

Anorexia nervosa (AN) is a life-threatening condition, with a significant risk for death, due to cardiovascular complications. It is characterized by abnormal eating behavior and has the highest mortality rate of all psychiatric disorders. It has been associated with bradycardia (a heart rate [HR] of less than 60 beats per minute) (up to 95%), hypotension, mitral valve prolapse, and heart failure.

Diagnostic evaluation of foreign body aspiration in children: a prospective study.

Aim: The aim of this study was to evaluate the yield of clinical symptoms, signs, and radiological studies in the diagnosis of foreign body aspiration (FBA) in children.

Methods: During the 2-year study, we performed on all children admitted to the pediatric department for suspected FBA a protocol that included the following: thorough medical history, physical examination, radiological studies (chest x-ray and fluoroscopy), and rigid bronchoscopy by a senior otolaryngologist. The yield of these measures for the diagnosis of FBA was evaluated.