Early recombinant human growth hormone treatment improves mental development and alleviates deterioration of motor function in infants and young children with Prader-Willi syndrome.

Background: Recombinant human growth hormone (rhGH) therapy has shown to improve height and body composition in children with Prader-Willi syndrome (PWS), the evidence of early rhGH treatment on motor and mental development is still accumulating. This study explored the time effect on psychomotor development, anthropometric indexes, and safety for infants and young children with PWS.

Methods: A phase 3, single-arm, multicenter, self-controlled study was conducted in six sites.

A Novel Missense Mutation in Gene Causing Perrault Syndrome Type 5 in a Chinese Family and Review of the Literature.

Background: Perrault syndrome (PRLTS) is a rare autosomal recessive disorder characterized by sensorineural hearing loss in both sexes and ovarian dysfunction in females. In some cases, patients present with a diversity of neurological signs. Six genes are known to cause Perrault syndrome.

Oestradiol promotes the intrahepatic bile duct development of C57BL/6CrSlc mice during embryonic period via Notch signalling pathway.

Oestradiol (E2) is a critical factor for multiple systems' development during the embryonic period. Here, we aimed to investigate the effects of oestradiol on intrahepatic bile duct development, which may allow a better understanding of congenital bile duct dysplasia. DLK hepatoblasts were extracted from the C57BL/6CrSlc foetal mice and randomly divided into control group, oestradiol groups (1, 10, 100 nM) and oestradiol (10 nM) + DAPT (inhibitor of Notch signalling; 40 µM) group for in vitro experiments.

The effects of recombinant human growth hormone therapy on thyroid function in pediatric patients with growth hormone deficiency.

Background: Recombinant human growth hormone (rhGH) was approved for the therapy of pediatric patients with growth hormone deficiency (GHD) by the Food and Drug Administration (FDA) of the United States in 1985. This study aims to evaluate the effects of rhGH therapy on thyroid function in pediatric patients with GHD.

Methods: A total of 55 pediatric patients, who had been diagnosed with GHD and received rhGH therapy for 6-24 months, and who could regularly come to our hospital for outpatient visits from May 1, 2014 to April 30, 2017, were selected for the study.

A comparison of the growth status, level of blood glucose, and lipid metabolism in small for gestational age and appropriate for gestational age girls with central precocious puberty: a retrospective study.

Background: To compare the physical development status, level of blood glucose and lipid metabolism in small for gestational age (SGA) and appropriate for gestational age (AGA) groups with central precocious puberty (CPP).

Methods: This was a retrospective study. Three hundred and twenty-two girls with CPP were divided into the AGA group (304 cases) and the SGA group (18 cases).

Risk factors for persistent epiphora following successful canalicular laceration repair.

Aim: To identify the risk factors of epiphora in patients with anatomical patency after surgical repair of canalicular laceration.

Methods: This retrospective case series included 178 cases of canalicular laceration repair from 2005 to 2012. Demographic data collected from each patient included age, sex, type of injury, distance from the distal lacerated end of the canaliculus to the punctum, the severity score for the structural abnormity of the medial canthus, the duration of stent placement, and the timing of surgery.

Comparison of the efficacy and safety of recombinant human growth hormone in treating idiopathic short stature and growth hormone deficiency in children.

Purpose: The present study aimed to compare the efficacy and safety of recombinant human growth hormone (rhGH) therapy between children with idiopathic short stature (ISS) and growth hormone deficiency (GHD).

Methods: A total of 150 pediatric patients with ISS and 153 pediatric patients with GHD who received rhGH treatment for more than one year from 2005 to 2016 were enrolled. Growth velocity (GV); height standard deviation (HtSD); insulin-like growth factor-1 standard deviation (IGF-1SD); body mass index (BMI); and the incidence of fasting hyperglycemia, fasting hyperinsulinemia, and hypothyroidism were recorded and compared.

A computerized resolution visual acuity test in preschool and school age children.

Aim: To develop a novel approach called the Autoacuity Tester, and to evaluate its validity, especially the sensitivity and specificity for detecting amblyopia.

Methods: Children aged from 3 to 12y (=552) were enrolled in the study. The validity of the Autoacuity Tester was evaluated by comparing it to the Tumbling E Early Treatment Diabetic Retinopathy Study (ETDRS) acuity chart for school age children, and Lea Symbols and Teller acuity card (TAC) for preschool children.

Serum Biomarkers for Early Diagnosis of Chinese X-CGD Children: Case Reports and a Literature Review.

Since X-linked chronic granulomatosis disease (X-CGD) exhibits no specific clinical symptoms at an early stage, early diagnosis is difficult and depends predominantly on neonatal screening. Therefore, the aim of this study was to explore routine biomarkers for X-CGD in children and provide clues for early diagnosis. The cases of 10 children with X-CGD diagnosed at Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology from 2013 to 2016 and 122 Chinese children with X-CGD reported in the literature were summarized.

Efficacy and safety of recombinant human growth hormone in treating Chinese children with idiopathic short stature.

Objective: This study aims to investigate the efficacy and safety of recombinant human growth hormone (rhGH) in the treatment of idiopathic short stature (ISS).

Methods: The data of 200 ISS children, who were treated with rhGH from January 2008 to December 2016, were collected and retrospectively analyzed. The data of height, bone age(BA), chronological age(CA), fasting blood glucose, fasting insulin, thyroid function and IGF-1 were collected, and annual growth velocity (GV), height standard deviation score (HtSDS) and related factors that affect GV were statistically analyzed.

Inhibitory Effect of LPS on the Proliferation of Oligodendrocyte Precursor Cells through the Notch Signaling Pathway in Intrauterine Infection-induced Rats.

Periventricular white matter injury (PWMI) is very common in survivors of premature birth, and the final outcomes are a reduction in myelinated neurons leading to white matter hypomyelination. How and (or) why the oligodendrocyte lineage develops abnormally and myelination is reduced is a hot topic in the field. This study focuses on the effect of intrauterine inflammation on the proliferation of oligodendrocyte lineage cells and the underlying mechanisms.

[Effect of glutaryl-CoA dehydrogenase gene silencing and high-concentration lysine on the viability of BRL hepatocytes].

Objective: To investigate the effect of glutaryl-CoA dehydrogenase (GCDH) gene silencing and accumulation of lysine metabolites on the viability of hepatocytes.

Methods: BRL cells were divided into normal control group, negative control group, and GCDH silencing group. The shRNA lentiviral vector for silencing GCDH gene was constructed, and the BRL hepatocytes in the GCDH silencing group and the negative control group were infected with this lentivirus and negative control virus respectively, and then cultured in a medium containing 5 mmol/L lysine.

Effects of SOCS 1/3 gene silencing on the expression of C/EBPα and PPARγ during differentiation and maturation of rat preadipocytes.

Background: Suppressor of cytokine signaling-1 and -3 (SOCS-1 and SOCS-3) are two important negative regulators in the insulin-signaling pathway, and their overexpression may aggravate insulin resistance. Subjects with insulin resistance are often obese and have increased expressions of SOCS-1 and SOCS-3. We speculated that SOCS-1 and SOCS-3 may be involved in abnormal deposition of adipose tissues during insulin resistance.

[Effects of intrauterine growth retardation with catch-up growth on sugar-lipid metabolism and adipocyte function in young rats].

Objective: To study changes of glycolipid metabolism and adipocyte function in an catch-up growth intrauterine growth retardation (IUGR) rat model.

Methods: IUGR rat model was established by maternal nutrition restriction during pregnancy. Newborn IUGR pups were used as IUGR group, and normal newborn pups were used as control group (appropriate for gestational age, AGA group).

[Effects of PI3K inhibitor LY294002 on the differentiation of mouse preadipocytes and the expression of C/EBPα and PPARγ].

Objective: This study examined the effects of PI3K inhibitor LY294002 on the differentiation of mouse preadipocytes and the expression of CCAAT enhancer binding protein α (C/EBPα) and peroxisome proliferation activated receptor γ (PPARγ), in order to study the possible roles of insulin receptor substrate (IRSs)/PI3K signal pathway in the differentiation of preadipocytes.

Methods: The mouse 3T3-L1 cells were cultured normally and divided into experimental and control groups. 3T3-L1 cells in the experimental group were treated with PI3K inhibitor LY294002 (25 μmol/L) and those in the control group were treated with DMSO culture medium.

Clinical features and growth hormone receptor gene mutations of patients with Laron syndrome from a Chinese family.

Laron syndrome is an autosomal recessive disorder caused by defects of growth hormone receptor (GHR) gene. It is characterized by severe postnatal growth retardation and characteristic facial features as well as high circulating levels of growth hormone (GH) and low levels of insulin-like growth factor I (IGF-I) and insulin-like growth factor binding protein-3 (IGFBP-3). This report described the clinical features and GHR gene mutations in 2 siblings with Laron syndrome in a Chinese family.