Predictors of long-term respiratory insufficiency of exomphalos major.

Introduction: Exomphalos major (EM) is associated with significant morbidity and even mortality with an important risk of long-term pulmonary disease.

Aim: To assess the outcomes of exomphalos in a single tertiary pediatric unit and to identify prognostic factors for patients with respiratory insufficiency who still require ventilatory assistance at six months.

Material And Methods: All infants admitted to our institution over a 10-year period (2005 to 2015) with exomphalos were retrospectively reviewed.

Further evidence that d-glycerate kinase (GK) deficiency is a benign disorder.

d-Glyceric aciduria is caused by deficiency in d-glycerate kinase (GK) due to recessive mutations in the GLYCTK gene. GK catalyzes the conversion of d-glycerate to 2-phosphoglycerate which is an intermediary reaction in the catabolism of serine and fructose. Deficiency of GK leads to accumulation of d-glycerate, which may be detected in urine organic acid analysis.

Single stage surgery for contouring the prominent mandibular angle with a broad chin deformity: en-bloc Mandibular Angle-Body-Chin Curved Ostectomy (MABCCO) and Outer Cortex Grinding (OCG).

Background: Various surgical options are reported to address the Asian 'squared face', characterized by a prominent mandibular angle (PMA) associated with an oversized chin deformity; but shortcomings lie in the requirement of multi-stage procedures with the risk of further revision surgery. We have developed a single-stage "Mandibular Angle-Body-Chin Curved Ostectomy (MABCCO) and Outer Cortex Grinding (OCG)" surgical technique to shorten the period of the surgical treatment and minimize the inherent surgical risks in the multi-staged procedures.

Methods: A retrospective study involving patients (n = 36) presented with prominent mandibular angle and an oversized chin who underwent the operation described from 2010 to 2012 with at least 12 months of follow-up.