Truncating mutation in the nitric oxide synthase 1 gene is associated with infantile achalasia.

Nitric oxide is thought to have a role in the pathogenesis of achalasia. We performed a genetic analysis of 2 siblings with infant-onset achalasia. Exome analysis revealed that they were homozygous for a premature stop codon in the gene encoding nitric oxide synthase 1.

Amyand's hernia with perforated appendicitis in a premature infant.

We present a case of Amyand's hernia with perforated appendicitis in a premature infant. The favorable outcome compared to perforated abdominal appendicitis is discussed. Despite its rarity, this diagnosis should be considered in the differential diagnosis of a scrotal mass in premature infants.

Comparison of pediatric appendectomy outcomes between pediatric surgeons and general surgery residents.

Background: Appendectomy is the most common urgent procedure in children, and surgical outcomes may be affected by the surgeon's experience. This study's aim is to compare appendectomy outcomes performed by pediatric surgeons (PSs) and general surgery residents (GSRs).

Materials And Methods: A retrospective review of all patients younger than 16y treated for appendicitis at two different campuses of the same institution during the years 2008-2009 was performed.

Decreased density of ganglia and neurons in the myenteric plexus of familial dysautonomia patients.

Background: Familial dysautonomia (FD) is a hereditary disease of the autonomic and sensory nervous system. A prominent manifestation of FD is gastrointestinal dyscoordination, which contributes to the morbidity and mortality in FD.

Aim: As the myenteric plexus is an essential factor in gastrointestinal motility control, we compared its morphology in appendices of FD patients and controls.