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Abstract Background SPTBN1 encodes βII-spectrin, a cytoskeletal protein essential for neuronal structure and function. Pathogenic variants in this gene cause a neurodevelopmental disorder known as DDISBA (Developmental ...

ABSTRACT Background and Aims Children's coagulation system undergoes dynamic changes during development, necessitating age‐specific reference intervals (RIs). This study aimed to establish RIs for 16 coagulation parame...

IntroductionRNU4ATAC-opathies are characterized by biallelic pathogenic variants and include three recognized phenotypes: autosomal recessive Roifman syndrome, microcephalic osteodysplastic primordial dwarfism (MOPD), an...

Modern lifestyle factors, including dietary choices, significantly affect individual and intergenerational health. The widespread reliance on processed and takeout foods, along with the regular use of cosmetics and perso...

Craniofacial morphogenesis is a highly coordinated developmental process governed by complex genetic and molecular interactions. Among these, the PAX family of transcription factors plays a pivotal role in the regulation...

Abstract Purpose Cri-du-chat syndrome (OMIM 123450) is caused by a deletion of the short arm of chromosome 5 and characterized by a distinct high-pitched cry, developmental delay/intellectual disability, and various dysm...

IntroductionCertain events that occur in early life, such as changes in nutrition, can induce structural and functional modifications in brain development, leading to behavioral programing in the offspring. These effects...

Metabolic syndrome (MetS) is a cluster of metabolic disturbances increasing a risk of cardiovascular diseases and diabetes 2 types. The main features of MetS include atherogenic dyslipidemia, elevated blood pressure, ins...

BackgroundNewborn screening (NBS) based on tandem mass spectrometry (MS/MS) is essential for the early identification of inherited metabolic disorders. However, physiological immaturity in preterm and low-birth-weight (L...

In this study, we analyzed peripheral nerve anomalies in 15 anuran species spanning multiple developmental stages. Anatomical examinations focused on both the central nervous system—including the olfactory bulbs, telen...

Abstract Lissencephaly is a genetic heterogeneous autosomal recessive disorder characterized by the classical triad: brain malformations, eye anomalies, and congenital muscular dystrophy. Prenatal diagnosis is feasible b...

As a broad-spectrum preservative， sodium dehydroacetate（DHA-S） was once used in a variety of foods. However， with the systematic research on its toxic effects， the potential threats to human health posed by DHA...

RNU4ATAC-opathies are genetic conditions that include growth restriction, skeletal dysplasia, and cognitive impairment. Historically, these have been divided phenotypically into microcephalic osteodysplastic primordial d...

Introductions: The COVID-19 pandemic has profoundly impacted many aspects of life, with especially severe effects on social interactions. Quarantine and social distancing measures, while essential for controlling viral s...

Inborn errors of immunity (IEI) can manifest with neurological disorders, indicating genetic overlap between immune and nervous system diseases. However, neurological disorder genes are rarely screened systematically for...

Abstract Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by heterogeneity in its genetic, epigenetic, and environmental etiologies, posing significant challenges for therapeutic development...

Abstract Psychiatric disorders place considerable burden on individuals and on public health. Funding for research in psychiatry is less than ideal, but even so high quality research is being conducted at many centers. H...

En la actualidad es importante detectar a tiempo la depresión, con el fin de llevar un tratamiento oportuno y mejorar la calidad de vida de las personas, este proceso de evaluación o detección requiere el uso de herra...

Materias / palabras clave: Classification of mental disorders; Psychology; Diagnostic Classification of Mental Health and Developmental Disorders of Infancy and Early Childhood; Psychiatry; Prevalence of mental disorders; Mental health

Materias / palabras clave: Classification of mental disorders; Diagnostic Classification of Mental Health and Developmental Disorders of Infancy and Early Childhood; Psychology; Chinese Classification of Mental Disorders; Psychiatry; Prevalence of...

Perspectives on Sexuality Sex Research - an Overview Part 1. Biological Perspectives: Sexual Anatomy 1. Sexual Physiology 2. Human Reproduction 3. Birth Control 4. Abortion Part 2. Developmental Perspectives: Childhood S...