The increase in documentation supports success of this initial practice change and demonstrates adherence to evidence-based sleep hygiene strategies. The project provided evidence of a significant improvement in electronic medical record documentation, highlighting an increased awareness of sleep issues in children with neurodevelopmental disorders.Hypophosphatasia (HPP) is a rare inherited disease affecting bone and dental mineralization due to loss-of-function mutations in the ALPL gene encoding the tissue nonspecific alkaline phosphatase (TNSALP). Prenatal benign HPP (PB HPP) is a rare form of HPP characterized by in utero skeletal manifestations that progressively improve during pregnancy but often still leave symptoms after birth. Because the prenatal context limits the diagnostic tools, the main difficulty for clinicians is to distinguish PB HPP from perinatal lethal HPP, the most severe form of HPP. We previously attempted to improve genotype phenotype correlation with the help of a new classification of variants based on functional testing. Among 46 perinatal cases detected in utero or in the neonatal period for whose ALPL variants could be classified, imaging alone was thought to clearly diagnose severe lethal HPP in 35 cases, while in 11 cases, imaging abnormalities could not distinguish between perinatal lethal and BP HPP. We show here that our classification of ALPL variants may improve the ability to distinguish between perinatal lethal and PB HPP in utero.Alzheimer's disease (AD) is one of the most common forms of dementia in the elderly. Currently, there are over 50 million cases of dementia worldwide and it is expected that it will reach 136 million by 2050. AD is described as a neurodegenerative disease that gradually compromises memory and learning capacity. Patients often exhibit brain glucose hypometabolism and are more susceptible to develop type 2 diabetes or insulin resistance in comparison with age-matched controls. This suggests that there is a link between both pathologies. Glucose metabolism and the tricarboxylic acid cycle are tightly related to mitochondrial performance and energy production. Impairment of both these pathways can evoke oxidative damage on mitochondria and key proteins linked to several hallmarks of AD. Glycation is also another type of post-translational modification often reported in AD, which might impair the function of proteins that participate in metabolic pathways thought to be involved in this illness. Despite needing further research, therapies based on insulin treatment, usage of anti-diabetes drugs or some form of dietary intervention, have shown to be promising therapeutic approaches for AD in its early stages of progression and will be unveiled in this paper.
  Fontan operation is the standard surgical procedure for achieving long-term survival in single-ventricular complex congenital heart diseases (SV-CHD). We aim to identify the perioperative outcomes and impact of heterotaxy syndrome (HS) after Fontan operation in a tertiary pediatric cardiology center.
 
  Medical records were reviewed for all patients who received Fontan operation and who were born between 1997 and 2017 in our institution. Preoperative, operative, and postoperative risk factors for perioperative mortality and morbidity were analyzed.
 
  Totally, 154 patients were enrolled (103 SV-CHD and 51 HS), and the male to female ratio was 9262. The mean age of Fontan operation was 5.1 years, and extracardiac conduit comprised the majority (90.9%) of Fontan operation. Overall perioperative event-free survival to discharge was 91.6% (84.3% in HS and 95.1% in other SV-CHD, P=0.032). For secondary outcomes, length of intensive care stay and duration of pleural effusion drainage were not significantly different between patients with HS and other SV-CHD, but postoperative arrhythmia was more common in HS group (31.4% vs. 12.6%, P=0.005). In multivariable regression analysis, preoperative risk factors including operation year before 2007 and high PAP and postoperative factors of elevated postoperative CVP were associated with worse outcomes. HS was not a predictor of worse outcome after adjusting for preoperative PAP and operation era.
 
  Surgical outcome has improved much in current era. Perioperative outcome is poorer in patients with HS than other SV-CHD, but HS is not a predictor of perioperative mortality after adjusting for hemodynamic factors.
 Surgical outcome has improved much in current era. Perioperative outcome is poorer in patients with HS than other SV-CHD, but HS is not a predictor of perioperative mortality after adjusting for hemodynamic factors.
  Stoma-related obstruction (SRO) is defined as small bowel obstruction occurring around the limbs of diverting ileostomy (DI). This study was aimed to investigate the incidence, risk factors, and management of SRO after laparoscopic colorectal surgery with DI creation.
 
  This study included 155 patients who underwent laparoscopic colorectal surgery with DI creation for rectal cancer (n=138), ulcerative colitis (UC) (n=14), and familial adenomatous polyposis (FAP) (n=3) between 2011 and 2019. Univariate and multivariate analyses were performed to identify the risk factors of SRO.
 
  The incidence of SRO was 7.7% (n=12), and it was significantly lower (P<0.01) in patients with lower anterior resection or intersphincteric resection (4.3%) than in those with ileal-pouch anal anastomosis (IPAA) (35.2%). The multivariate analysis revealed that IPAA was independently associated with the development of SRO (P=0.001; odds ratio, 9.4; 95% confidence interval, 2.5-35.4). Eleven of 12 patients (92%) with SRO required trans-stomal tube decompression, and 8 of those (67%) underwent early stoma closure.
 
  IPAA was an independent risk factor of SRO in laparoscopic colorectal surgery with DI creation. Early stoma closure was needed in most cases of SRO.
 IPAA was an independent risk factor of SRO in laparoscopic colorectal surgery with DI creation. Early stoma closure was needed in most cases of SRO.
  Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is an autosomal recessive metabolic disorder or condition of fatty acid β-oxidation, caused by mutations in the gene encoding SCAD (ACADS).  https://www.selleckchem.com/products/unc5293.html  We report an infant with SCAD deficiency who unexpectedly exhibited an extremely high blood concentration of valproic acid (VPA) and agranulocytosis.
 
  An 8-month-old girl was diagnosed with West syndrome (infantile spasms), and VPA was administered at the standard level of 25mg/kg/day. However, the blood concentration of VPA rose unexpectedly to 230µg/mL (two- to three-fold higher than the expected value), and continued to remain relatively high even after the dosage was reduced (7mg/kg/day, blood concentration of 88µg/mL). Furthermore, she presented with a high-grade fever with agranulocytosis (neutrophil 231/µL). The abnormal pharmacokinetics and toxicity of VPA raised the suspicion of possible inborn errors of metabolism in the fatty acid β-oxidation pathway. Blood tandem mass spectrometry revealed a transient elevation of C4, and urine gas chromatography-mass spectrometry revealed a continuous elevation of ethylmalonate.