[Analysis of a Chinese pedigree with hereditary spherocytosis caused by intron variation of SPTB gene].

To analyze a novel intronic variant in the SPTB gene and explore its effect on SPTB mRNA splicing. Clinical data of a child diagnosed with hereditary spherocytosis (HS) and admitted to the First Affiliated Hospital of Xi'an Jiaotong University in February 2022 were analyzed retrospectively. Whole genome sequencing was used to identify disease-causing mutations and the results were validated with Sanger sequencing, mRNA sequencing was used to determine the SPTB gene's mRNA expression level, and bioinformatics tools were used for splicing site prediction and analysis.

[Clinical characteristics analysis of children with Noonan-like syndrome with loose anagen hair].

To analyze the clinical and genetic characteristics of children diagnosed with Noonan-syndrome associated with loose anagen hair(NS-LAH). A retrospective analysis was conducted on the clinical data of 5 children diagnosed with NS-LAH by the Endocrinology Department of the Capital Institute of Pediatrics from January 2018 to June 2024. This analysis encompassed the patients' demographic information, clinical manifestations, distinguishing features, treatment regimens, and prognostic outcomes to elucidate their clinical characteristics.

[Analysis of colonization rate and molecular characteristics of on tracheotomy wounds at early postoperational stage in neonates].

To analyze the colonization rate and molecular types of (SA) on the tracheotomy wounds of neonates at early postoperative stage in neonatal intensive care unit (NICU). This was a case series study. Patients who were admitted and underwent tracheotomy in NICU of Beijing Children's Hospital, Capital Medical University from January 1 2020 to December 31 2023 were enrolled.

[Glycemic control and influencing factors in children with type 1 diabetes mellitus in Xinjiang].

To investigate the glycemic control status and analyze its influencing factors in children with type 1 diabetes mellitus (T1DM) at a single center in Xinjiang. A cross-sectional survey was conducted. The clinical data of children with T1DM who were admitted to the Pediatric Center of the First Affiliated Hospital of Xinjiang Medical University from January 2019 to December 2023 were collected, including their general information, course of disease, insulin administration method, and glycosylated hemoglobin (HbA1c) levels.

[Analysis of perinatal factors for death or severe intraventricular hemorrhage within the first week of life in preterm infants with gestational age <32 weeks].

To analyze the incidence and perinatal factors of death or severe intraventricular hemorrhage (sIVH) within the first week of life in preterm infants with gestational age <32 weeks. Based on the online data platform of Sina-northern Neonatal Network (SNN), a case-control study was conducted using clinical data from 8 903 preterm infants with gestational age <32 weeks admitted to 35 neonatal intensive care units (NICU) between 2019 and 2023. Infants were classified by gestational age at birth into very preterm infants and extremely preterm infants.

[A survey on the time to reach full enteral feeding for preterm infants with gestational age <32 weeks in neonatal intensive care units of Chinese Neonatal Network].

To analyze the time to reach full enteral feedings (TFEF) among preterm infants with gestational age (GA)<32 weeks admitted to the neonatal intensive care units (NICU) of Chinese Neonatal Network (CHNN). This was a retrospective analysis based on the database from the CHNN 89 participating centers between January 1, 2019 and December 31, 2022. All 16 155 preterm infants with a GA <32 weeks and a birth weight <1 500 g, admitted to the NICU within 24 h after birth, hospitalization for at least 7 d and achieved full enteral feedings before discharge were included.

[Clinical characteristics and therapeutic experience with rivaroxaban in children with pneumonia associated with pulmonary thromboembolism].

To evaluate the efficacy and safety of rivaroxaban and investigate the clinical features of pneumonia (MPP) associated with pulmonary thromboembolism (PTE) in children. A case series study was conducted on 36 children, diagnosed with MPP associated with PTE and hospitalized in our institution from January 2020 to June 2024 of Department of Pediatric Respiratory, Shandong Provincial Hospital Affiliated to Shandong First Medical University. Clinical data and follow-up information were collected to analyze their clinical characteristics, outcomes, and adverse events to rivaroxaban.

[Infectious pulmonary artery pseudoaneurysms in 3 children and literatures review].

To summarize the clinical characteristics and prognosis of infectious pulmonary artery pseudoaneurysm (IPAP) in pediatric patients. This case series study summarizes the clinical data of 3 children diagnosed with IPAP at the Children's Hospital of Chongqing Medical University from January 2015 to December 2024.A comprehensive literature review was conducted by searching Chinese databases (China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform, China VIP Database and Chinese Medical Journals Full Text Database) and the PubMed database through December 2024, using the keywords"infect""pseudoaneurysm""pulmonary artery".

[Clinical features of pneumonia in 10 children].

To summarize the clinical features of pneumonia (CPP) in children. Case series study. Clinical data of 10 children with CPP hospitalized in Department No.

Comparative analysis of mortality patterns and treatment strategies in thalassaemia and sickle cell disease patients: A 12-year study.

This study examined mortality rates among 2475 patients with thalassaemia and sickle cell disease (SCD) per year over 12 years in Greece, recording 335 deaths (27.92/year), with an overall mortality rate of 1.13% per year.

Disparate X-linked retinoschisis phenotypes in fraternal twins with the same pathogenic variant in the gene.

Introduction: In X-linked retinoschisis (XLRS), the RS1 pathogenic variant and the patient's age might be the most important determinants of the XLRS phenotype. In this case report, we present fraternal twins with the same RS1 pathogenic mutation who were examined at the same age yet exhibited significantly different phenotypes.

Methods: This is a retrospective case report.

Microbial micronutrient sharing, gut redox balance and keystone taxa as a basis for a new perspective to solutions targeting health from the gut.

In health, the gut microbiome functions as a stable ecosystem maintaining overall balance and ensuring its own survival against environmental stressors through complex microbial interaction. This balance and protection from stressors is maintained through interactions both within the bacterial ecosystem as well as with its host. As a consequence, the gut microbiome plays a critical role in various physiological processes including maintaining the structure and function of the gut barrier, educating the gut immune system, and modulating the gut motor, digestive/absorptive, as well as neuroendocrine system all of which are crucial for human health and disease pathogenesis.

Coherence-Based Graph Convolution Network to Assess Brain Reorganization in Spinal Cord Injury Patients.

Motor imagery (MI) engages a broad network of brain regions to imagine a specific action. Investigating the mechanism of brain network reorganization during MI after spinal cord injury (SCI) is crucial because it reflects overall brain activity. Using electroencephalogram (EEG) data from SCI patients, we conducted EEG-based coherence analysis to examine different brain network reorganizations across different frequency bands, from resting to MI.

A Comprehensive Review of Interstitial Lung Abnormalities.

Interstitial lung abnormalities (ILAs) represent radiological entities that comprise changes compatible with an interstitial process, occurring in individuals not suspected to have interstitial lung disease (ILD). The prevalence of ILAs ranges from 2.5% to 16.

Alpha-Oscillatory Current Application Impacts Prospective Remembering Through Strategic Monitoring.

Prospective memory (PM) is the ability to remember to execute future intentions. PM requires engagement of attentional networks, in which oscillatory activity in the alpha frequency range has been implicated. The left dorsolateral prefrontal cortex (DLPFC) and inferior parietal cortex are assumed to be engaged during PM tasks.

Prevalence and Impact of Postoperative Sexual Dysfunction After Major Emergency Abdominal Surgery: A Prospective Cohort Study.

Introduction: Sexual dysfunction is commonly reported after cancer surgery or pelvic surgery; however, the incidence following major emergency abdominal surgery remains unknown. This study aimed to investigate the incidence and sex differences in sexual dysfunction up to 90 days postoperatively after major emergency abdominal surgery.

Methods: This single-center prospective cohort study included all consecutive patients undergoing major emergency abdominal surgery at Copenhagen University Hospital Herlev from March 2023 to March 2024.

Implementation of occupation-centred practice by occupational therapists in acute adult physical settings: A mixed method study in a regional and rural health service.

Introduction: Occupational therapy is underpinned by the belief that occupation facilitates health and wellbeing. However, evidence suggests that occupational therapists encounter challenges to implementing occupation-centred practice. The aim of this study was to investigate the uptake, acceptability and impact of a workplace intervention designed to enhance occupation-centred practice of occupational therapists in an acute adult physical context.