Early Reoperations after Primary Repair of Jejunoileal Atresia in Newborns.

To review nine-year experience in managing jejuno-ileal atresia (JIA) by primary resection and anastomosis and identify factors associated with reoperations. From April 2006 to May 2015, all consecutive neonates who underwent bowel resection and primary anastomosis for JIA were analyzed retrospectively. Patients with temporary enterostomy were excluded.

Improved outcomes after technical modifications in tubularized incised plate urethroplasty for mid-shaft and proximal hypospadias.

Purpose: To investigate and compare the outcomes after tubularized incised plate (TIP) urethroplasty in mid-shaft and proximal hypospadias using a standard and a modified technique.

Methods: We conducted a retrospective study in 104 consecutive children who underwent mid-shaft or proximal TIP repairs from Jan 2007 to Sept 2015. Patients in Cohort One had dorsal dartos (DD) neourethral coverage while patients in Cohort Two had either de-epithelialized split preputial (DESP) or tunica vaginalis (TV) flap coverage.

Tumor risk of children with 45,X/46,XY gonadal dysgenesis in relation to their clinical presentations: Further insights into the gonadal management.

Objective: To investigate the risk of gonadal germ cell neoplasms (GCN) in children with 45,X/46,XY gonadal dysgenesis and its relation to the clinical presentations.

Methods: We conducted a retrospective study reviewing the clinical and gonadal features of all consecutive children with 45,X/46,XY gonadal dysgenesis who received gonadal management in a tertiary center from 1985 to 2015. Study subjects were divided into Group I(significant genitalia anomaly), Group II(female phenotype) and Group III(male phenotype).

Laparoendoscopic single-site nephrectomy and heminephroureterectomy in children using standard laparoscopic setup versus conventional laparoscopy.

Objective: To investigate the safety and effectiveness of laparoendoscopic single-site surgery (LESS) using standard laparoscopic setup in pediatric nephrectomy/heminephroureterectomy (HN) by comparing with conventional laparoscopy (CL).

Methods: Twelve consecutive children who underwent LESS (nephrectomy = 8, HN = 4) from 2009 to 2012 were compared with a matched cohort of 18 children who underwent CL (nephrectomy = 12, HN = 6) at the same institution. Data were reviewed retrospectively.

Gatifloxacin affects GLUT1 gene expression and disturbs glucose homeostasis in vitro.

Gatifloxacin may induce life-threatening dysglycemia. The facilitated glucose transporter type 1 (GLUT1) protein is ubiquitously expressed in many tissues. Disturbed GLUT1 protein function weakens the systemic glycemic control and may cause dysglycemia.

Three Japanese patients with glucose transporter type 1 deficiency syndrome.

We report three Japanese patients with glucose transporter type 1 deficiency syndrome (Glut1DS). Two patients had a normal erythrocyte 3-O-methylglucose (3OMG) uptake, one with a previously reported T295M substitution and the other with a novel 12-bp insertion at nt 1034-1035, ins CAGCAGCTGTCT. The third patient, with deficient 3OMG uptake, had a previously reported hot-spot mutation, R333W.

Sodium valproate inhibits glucose transport and exacerbates Glut1-deficiency in vitro.

Anticonvulsant sodium valproate interferes with brain glucose metabolism. The mechanism underlying such metabolic disturbance is unclear. We tested the hypothesis that sodium valproate interferes with cellular glucose transport with a focus on Glut1 since glucose transport across the blood-brain barrier relies on this transporter.

The effects of phenytoin and its metabolite 5-(4-hydroxyphenyl)-5-phenylhydantoin on cellular glucose transport.

Glucose is the principal fuel for brain metabolism and its movement across the blood-brain barrier depends on Glut1. Impaired glucose transport to the brain may have deleterious consequences. For example, Glut1 deficiency syndrome (Glut1DS) is the result of heterozygous loss of function Glut1 mutation leading to energy failure of the brain and subsequently, epileptic encephalopathy.