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 →
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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 MUC5AC–MUC5B 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 →
Metastatic pheochromocytoma and paraganglioma: Somatostatin receptor 2 expression, genetics and therapeutic responses by Alessa Fischer
CONCLUSIONS: SSTR2 expression was independently associated with SDHB/SDHx mutations and metastatic disease. We confirm a high disease control rate of somatostatin receptor-based therapies in metastatic PPGLs. 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 →
Attention Bias Modification Treatment Versus a Selective Serotonin Reuptake Inhibitor Or Waiting List Control for Social Anxiety Disorder: A Randomized Clinical Trial by Gal Arad
CONCLUSIONS: Eye-tracking-based attention bias modification is an acceptable and effective treatment option for social anxiety disorder. 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 →
The mediating role of emotion regulation strategies between symptoms and anxiety problems in children with attention deficit hyperactivity disorder by Lin Zhong
CONCLUSIONS: Cognitive reappraisal plays a mediating role between symptoms and anxiety problems in children with ADHD, while sex regulates the relationship of symptoms with cognitive reappraisal and anxiety problems in these children. 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 →
Some Macrophages With High Expression of CHOP Undergo Necroptosis in Chronic Rhinosinusitis by Min Li
CONCLUSION: IL1β induced the apoptotic pathway and minor necroptosis. And ER stress also plays a role in the occurrence of necroptosis in CRSwNP. 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 →
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