Prader-Willi syndrome patient with atypical phenotypes caused by mosaic deletion in the paternal 15q11-q13 region: a case report.

Background: Prader-Willi syndrome (PWS) is a multisystemic complex genetic disorder caused by the loss of paternally expressed genes in the human chromosome region 15q11.2-q13. It is characterized by severe hypotonia and feeding difficulties in early infancy, followed in later infancy or early childhood by excessive eating and gradual development of morbid obesity.

Association Between Methylmalonic Acid and Cognition: A Systematic Review and Meta-Analysis.

Background: Methylmalonic acid (MMA) is an intermediate metabolite of human body. The content of MMA in the blood of healthy people is very low, and its concentration will increase in some diseases and elderly people. Recent studies have shown that MMA has a variety of biological functions.

The biallelic novel pathogenic variants in AGL gene in a chinese patient with glycogen storage disease type III.

Background: Glycogen storage disease type III (GSD III) is a rare autosomal recessive glycogenolysis disorder due to AGL gene variants, characterized by hepatomegaly, fasting hypoglycemia, hyperlipidemia, elevated hepatic transaminases, growth retardation, progressive myopathy, and cardiomyopathy. However, it is not easy to make a definite diagnosis in early stage of disease only based on the clinical phenotype and imageology due to its clinical heterogeneity.

Case Presentation: We report a two-year-old girl with GSD III from a nonconsanguineous Chinese family, who presented with hepatomegaly, fasting hypoglycemia, hyperlipidemia, elevated levels of transaminases.

Identification of a Novel Deep Intronic Variant by Whole Genome Sequencing Combined With RNA Sequencing in a Chinese Patient With Menkes Disease.

Menkes disease (MD) is a rare X-linked connective tissue disorder of copper metabolism caused by pathogenic variant(s) in gene. The aim of the present study is to determine the clinical characteristics and molecular basis of one patient with MD. One 10-month-old Chinese boy who met the clinical manifestations of MD was enrolled in this study.

Efficacy and Safety of Diet Therapies in Children With Autism Spectrum Disorder: A Systematic Literature Review and Meta-Analysis.

Objective: Autism Spectrum Disorder is a neurodevelopmental disorder, with a rapid increase in recognition over the past decade. Interest in alternative therapies is growing annually, such as dietary therapies including gluten-free and/or casein-free diet, and the ketogenic diet. However, there is no consensus on the efficacy and safety of dietary therapy in children with ASD up to now.

Cryptogenic massive hemoptysis caused by bronchial artery-pulmonary artery fistula in a 12-year-old boy: A case report and literature review.

Background: Hemoptysis is a frequently encountered symptom of the respiratory system in adult but is rare in children. Bronchial artery-pulmonary artery fistula (BPF) is one of the most important and life-threatening cause in pediatric hemoptysis patients. Although the severity of BPF has been proved in previous studies, details about clinical diagnosis and treatment of BPF in children have been rarely reported.

Multimorbidity and Regional Volumes of the Default Mode Network in Brain Aging.

Introduction: The default mode network (DMN) is selectively vulnerable in brain aging. Little is known about the effect of multimorbidity as a whole onto the brain structural integrity.

Objective: We aimed to investigate the association between multimorbidity and the structural integrity of DMN.

Interaction Mechanism and Clustering among RGD Peptides and Integrins.

Peptides with an exposed arginine-glycine-aspartate (Arg-Gly-Asp, RGD) sequence targeting the integrin α β play an important role in targeted anticancer drug delivery. The interaction of multiple RGD-containing peptides and two α β molecules was studied via MD simulation. Results revealed that not all six RGD-containing peptides interact with α β and interaction strengths differed among the peptides.

Effects of Lu-Do-Huang Extract (LDHE) on Apoptosis Induction in Human Hep3B Cells.

Lu-Do-Huang (Pracparatum mungo) is a fermented mung bean [corrected] (Vigna radiata) and has long been used as a traditional and functional food in Traditional Chinese Medicine, especially for treating a variety of liver disorders. The present study aimed to evaluate the apoptotic effects of Lu-Do-Huang ethanol extract (LDHE) on Hep3B cells, a human hepatoma cell line. A variety of cellular assays, flow cytometry and immunoblotting were used.

The relationship between obesity and prescription of smoking cessation medications.

The objective of this study was to examine the differences in prescription of smoking cessation medications among smokers with different body mass index (BMI) classifications. A retrospective cross-sectional study was conducted using National Ambulatory Medical Care Survey data (2006-2010). Self-reported current smokers aged 18 years and older were included in the study.

Molecular basis for the targeted binding of RGD-containing peptide to integrin αVβ3.

Integrin αVβ3-targeting peptides with an exposed arginine-glycine-aspartate (RGD) sequence play a crucial role in targeted anticancer drug delivery. The effects of RGD-containing peptide structure and quantity on mechanism of targeted binding of RGD-containing peptide to integrin αVβ3 were studied intensively at the molecular level via molecular dynamic simulations. Targeted recognization was mainly driven by the electrostatic interactions between the residues in RGD and the metal ions in integrin αVβ3, and cyclic arginine-glycine-aspartate-phenylalanine-valine (RGDFV) peptide appeared to be a better vector than the linear RGD-containing peptides.

Ambulatory diagnosis and treatment of nonmalignant pain in the United States, 2000-2010.

Background: Escalating rates of prescription opioid use and abuse have occurred in the context of efforts to improve the treatment of nonmalignant pain.

Objective: The aim of the study was to characterize the diagnosis and management of nonmalignant pain in ambulatory, office-based settings in the United States between 2000 and 2010.

Design, Setting, And Participants: Serial cross-sectional and multivariate regression analyses of the National Ambulatory Medical Care Survey (NAMCS), a nationally representative audit of office-based physician visits, were conducted.

An investigation into plasmolysis in the oomycete Achlya bisexualis reveals that membrane-wall attachment points are sensitive to peptides containing the sequence RGD and that cell wall deposition can occur despite retraction of the protoplast.

The structure and function of membrane-wall attachment sites in walled cells, and how these relate to animal focal adhesions, is an area that is poorly understood. In view of this, we investigated how membrane-wall attachments that form upon plasmolysis, respond to peptides that disrupt animal focal adhesions. The degree of cytoplasmic disruption during plasmolysis was also investigated.

Invasive hyphal growth: an F-actin depleted zone is associated with invasive hyphae of the oomycetes Achlya bisexualis and Phytophthora cinnamomi.

We have compared F-actin patterns in invasive and non-invasive oomycete hyphae. In Achlya bisexualis an F-actin depleted zone is present in 70% of invasive but only 9% of non-invasive hyphae. In Phytophthora cinnamomi these figures are 74 and 20%, respectively.

The effectiveness of health promotion education programs for community elderly.

The purpose of this study was to examine the effectiveness of health promotion education programs for a group of elderly residents in a community. A one group pre- and post-test design was used in this study. Nurses, dietitians, and physical education teachers worked collaboratively to provide a series of comprehensive, integrated education programs.