Several genes with an essential role in the regulation of eating behavior and body weight are considered candidates involved in the etiology of eating disorders (ED), but no relevant susceptibility genes with a major effect on anorexia nervosa (AN) or bulimia nervosa (BN) have been identified. Brain-derived neurotrophic factor (BDNF) has been implicated in the regulation of food intake and body weight in rodents. We previously reported a strong association of the Met66 allele of the Val66Met BDNF variant with restricting AN (ANR) and low minimum body mass index in Spanish patients. Another single nucleotide polymorphism located in the promoter region of the BDNF gene (-270C>T) showed lack of association with any ED phenotype. In order to replicate these findings in a larger sample, we performed a case-control study in 1142 Caucasian patients with ED consecutively recruited in six different centers from five European countries (France, Germany, Italy, Spain and UK) participating in the 'Factors in Healthy Eating' project. We have found that the Met66 variant is strongly associated to all ED subtypes (AN, ANR, binge-eating/purging AN and BN), and that the -270C BDNF variant has an effect on BN and late age at onset of weight loss. These are the first two variants associated with the pathophysiology of ED in different populations and support a role for BDNF in the susceptibility to aberrant eating behaviors.
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http://dx.doi.org/10.1093/hmg/ddh137 | DOI Listing |
Malays J Pathol
December 2024
Tengku Ampuan Rahimah Hospital, Department of Paediatrics, Ministry of Health, Klang, Selangor, Malaysia.
Introduction: To determine the epidemiology of blood culture-positive late-onset sepsis (LOS, >72 hours of age) in 44 Malaysian neonatal intensive care units (NICUs).
Materials And Methods: Study Design: Multicentre retrospective observational study using data from the Malaysian National Neonatal Registry.
Participants: 739486 neonates (birthweight ≥500g, gestation ≥22 weeks) born and admitted in 2015-2020.
Eur J Neurol
January 2025
Service de Génétique Médicale, CHU Bordeaux, Bordeaux, France.
Purpose: Heterozygous pathogenic variants in SPAST are known to cause Hereditary Spastic Paraplegia 4 (SPG4), the most common form of HSP, characterized by progressive bilateral lower limbs spasticity with frequent sphincter disorders. However, there are very few descriptions in the literature of patients carrying biallelic variants in SPAST.
Methods: Targeted Sanger sequencing, panel sequencing and exome sequencing were used to identify the genetic causes in 9 patients from 6 unrelated families with symptoms of HSP or infantile neurodegenerative disorder.
Aging Cell
December 2024
Department of Cell Biology, Neurobiology and Anatomy, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.
Despite advances in understanding molecular and cellular changes in the aging nervous system, the upstream drivers of these changes remain poorly defined. Here, we investigate the roles of non-neural tissues in neuronal aging, using the cutaneous PVD polymodal sensory neuron in Caenorhabditis elegans as a model. We demonstrate that during normal aging, PVD neurons progressively develop excessive dendritic branching, functionally correlated with age-related proprioceptive deficits.
View Article and Find Full Text PDFLipids Health Dis
December 2024
Department of Endocrinology, Children's Hospital of Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, Zhejiang, 310052, China.
Background: Familial hypercholesterolemia (FH) is an inherited disorder mainly marked by increased low-density lipoprotein cholesterol (LDL-C) concentrations and a heightened risk of early-onset arteriosclerotic cardiovascular disease (ASCVD). This study seeks to characterize the genetic spectrum and genotype‒phenotype correlations of FH in Chinese pediatric individuals.
Methods: Data were gathered from individuals diagnosed with FH either clinically or genetically at multiple hospitals across mainland China from January 2016 to June 2024.
Pediatr Cardiol
December 2024
The Department of Ultrasound, Tianyou Hospital of Shanghai, No 528, Zhennan Road, Putuo District, Shanghai, 200331, China.
Persistent myocardial impairment proved by histopathologic studies universally existed in patients with Kawasaki disease (KD); however, the long-term effects on myocardial contractile reserve in KD patients, especially on patients without coronary artery lesions (CALs), is still unknown. The aim of this study was to investigate myocardial contractile reserve in KD patients during late convalescent stage by speckle-tracking adenosine triphosphate (AT) echocardiography. A total of 63 antecedent KD patients at least 4 years after the disease onset and 40 age- and gender-matched normal controls were prospectively enrolled.
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