Impact of body mass index on peripheral and uterine immune status in the window of implantation in patients with recurrent reproductive failure by ShuYi Yu

This study aimed to investigate whether maternal obesity affects the immune status of peripheral blood and endometrium in patients with recurrent reproductive failure classified according to their body mass index (BMI). A total of 228 repeated implantation failure (RIF) and 266 recurrent miscarriage (RM) patients were enrolled in the study and further subdivided into three groups according to their BMI: (i) normal weight (18.5≤ BMI Continue reading →

Precise definition of the breakpoints of an apparently balanced translocation between chromosome 3q26 and chromosome 7q36: Role of KMT2C disruption by Mamiko Yamada

When a de novo balanced reciprocal translocation is identified in the patient, the cause of phenotype of the patient can be explained by detecting the breakpoints of the genes. Here, we report a 3-year-old patient with developmental delay, autism spectrum disorder, and distinctive facial features who had an apparently balanced translocation between chromosome 3q26 and chromosome 7q36. Nanopore long-read sequencing revealed that balanced translocation disrupted the KMT2C gene, the… Continue reading →

Genetic analyses of chr11p15.5 region identify MUC5ACMUC5B associated with asthma-related phenotypes by Xingnan Li

Objective: Genome-wide association studies (GWASs) have identified single nucleotide polymorphisms (SNPs) in chr11p15.5 region associated with asthma and idiopathic interstitial pneumonias (IIPs). We sought to identify functional genes for asthma by combining SNPs and mRNA expression in bronchial epithelial cells (BEC) in the Severe Asthma Research Program (SARP). Methods: Correlation analyses of mRNA expression of six candidate genes (AP2A2, MUC6, MUC2, MUC5AC, MUC5B, and TOLLIP) and asthma… Continue reading →

Clinical diagnostic techniques for rare genetic diseases in children: current status, advances, and thoughts by Jin-Yue Huang

Rare diseases refer to a group of single diseases with low incidence rates, complex pathogeneses, severe disease conditions, and rapid progression. Most rare diseases have a genetic background and may occur in childhood. Paying attention to the rare genetic diseases in children and performing early diagnosis and treatment can effectively delay the course of disease and improve the quality of life of children. Many rare diseases can be diagnosed with the help of various experimental techniques,… Continue reading →

Infant and Parent Outcomes Related to NICU-Based Co-occupational Engagement by M Richter

Neonatal intensive care unit (NICU) co-occupations may impact parent-infant outcomes. The main objective of this study was to explore relationships between parent and infant outcomes based on whether sensory-based interventions (co-occupations) occurred most often between parent-infant dyads or provider/volunteer-infant dyads. Thirty-five families received the Supporting and Enhancing NICU Sensory Experiences (SENSE) program, which includes education defining specific amounts of sensory… Continue reading →

Digital cognitive behaviour therapy for insomnia in individuals with self-reported insomnia and chronic fatigue: A secondary analysis of a large scale randomized controlled trial by Lina Stålesen Ramfjord

Insomnia is associated with fatigue, but it is unclear whether response to cognitive behaviour therapy for insomnia is altered in individuals with co-occurring symptoms of insomnia and chronic fatigue. This is a secondary analysis using data from 1717 participants with self-reported insomnia in a community-based randomized controlled trial of digital cognitive behaviour therapy for insomnia compared with patient education. We employed baseline ratings of the Chalder Fatigue Questionnaire to… Continue reading →

Physiologically Based Pharmacokinetic and Pharmacodynamic Modeling of Alprazolam: Implications for Anxiety and Addiction by P M Burkat

CONCLUSIONS: Unbound interstitial brain concentration-time profiles of alprazolam corresponded to changes in β activity, peak saccade velocity, mood improvement, cognitive speed slowing, and DSST scores. Pharmacodynamic models for these endpoints suggest that alprazolam IR maximal effects on cognitive slowing, cognitive impairment, sedation, and mood improvement occur sequentially following the brain concentration-time profile. Continue reading →

The effects of childhood maltreatment on cortical thickness and gray matter volume: a coordinate-based meta-analysis by Wei Yang

Childhood maltreatment has been suggested to have an adverse impact on neurodevelopment, including microstructural brain abnormalities. Existing neuroimaging findings remain inconsistent and heterogeneous. We aim to explore the most prominent and robust cortical thickness (CTh) and gray matter volume (GMV) alterations associated with childhood maltreatment. A systematic search on relevant studies was conducted through September 2022. The whole-brain coordinate-based meta-analysis (CBMA) on CTh… Continue reading →