A novel 268 kb deletion combined with a splicing variant in IL7R causes of severe combined immunodeficiency in a Chinese family: a case report.

Background: Severe combined immunodeficiency (SCID) is a group of fatal primary immunodeficiencies characterized by the severe impairment of T-cell differentiation. IL7R deficiency is a rare form of SCID that usually presents in the first months of life with severe and opportunistic infections, failure to thrive, and a high risk of mortality unless treated. Although recent improvements in early diagnosis have been achieved through newborn screening, few IL7R-related SCID patients had been reported in the Chinese population.

Spontaneous unscarred uterine rupture at 13 weeks of gestation after in vitro fertilization-embryo transfer: A case report and literature review.

Rationale: Uterine rupture (UR) during pregnancy is a serious obstetric complication. Here we report a case of spontaneous rupture in an unscarred uterus at 13 weeks of gestation after in vitro fertilization embryo transfer, which is not common in past references. Our focus is to understand the relationship between systemic lupus erythematosus (SLE) and UR.

A novel nomogram for predicting the prolonged length of stay in post-anesthesia care unit after elective operation.

Background: Prolonged length of stay in post-anesthesia care unit (PLOS in PACU) is a combination of risk factors and complications that can compromise quality of care and operating room efficiency. Our study aimed to develop a nomogram to predict PLOS in PACU of patients undergoing elective surgery.

Methods: Data from 24017 patients were collected.

D6 high-quality expanded blastocysts and D5 expanded blastocysts have similar pregnancy and perinatal outcomes following single frozen blastocyst transfer.

Objective: We compared the pregnancy and perinatal outcomes between expanded blastocysts vitrified on D5 versus D6 following single frozen blastocyst transfer.

Methods: Clinical data on 7,606 cycles of frozen-thawed blastocyst implantations were retrospectively analyzed. Depending on whether blastocysts were vitrified on D5 or D6 and the transferred blastocysts, the blastocysts were divided into 6 groups: HQB-D5, HQB-D6, 4XC-D5, 4XC-D6, 4CX-D5, and 4CX-D6 groups.

Engineered muscle from micro-channeled PEG scaffold with magnetic FeO fixation towards accelerating esophageal muscle repair.

Engineered scaffolds are used for repairing damaged esophagus to allow the precise alignment and movement of smooth muscle for peristalsis. However, most of these scaffolds focus solely on inducing cell alignment through directional apparatus, often overlooking the promotion of muscle tissue formation and causing reduced esophageal muscle repair effectiveness. To address this issue, we first introduced aligned nano-ferroferric oxide (FeO) assemblies on a micropatterned poly(ethylene glycol) (PEG) hydrogel to form micro-/nano-stripes.

[Analysis of clinical features and variants of NF1 gene in 12 patients with Neurofibromatosis type 1].

Objective: To explore the types of NF1 gene variants and clinical characteristics among patients with Neurofibromatosis type I (NF1).

Methods: Clinical data of 12 patients diagnosed at Ningbo Women and Children's Hospital between December 2019 and May 2022 were retrospectively analyzed. The probands and their family members were subjected to high-throughput sequencing, and candidate variants were verified by Sanger sequencing and chromosome microarray analysis.

Ovotesticular Disorder of Sex Development Presenting as a Scrotal Emergency.

Ovotesticular (OT) disorder of sex development (DSD) is a rare condition that affects the development of reproductive organs and manifests in a wide range of phenotypic presentations. The clinical diagnosis of this condition is challenging because of its atypical nature, and the variability of presentation in 46,XX OT-DSD cases makes it a complex issue in medical practice. We report a case of a 13-year-old boy who presented with left scrotal pain.

Administration of a glypican-3 peptide increases the infiltration and cytotoxicity of CD8 T cells against testicular yolk sac tumor, associated with enhancing the intratumoral cGAS/STING signaling.

Background: Glypican-3 (GPC3) is highly expressed in testicular yolk sac tumor (TYST). GPC3 has been evaluated as a cancer vaccine for some types of tumors, but little is known on the effects of GPC3 peptide-based therapy on TYST. Here, we evaluated the antitumor effect of GPC3 on TYST and its potential mechanisms.

Effect of General Anesthetic Agents on Microglia.

The effects of general anesthetic agents (GAAs) on microglia and their potential neurotoxicity have attracted the attention of neuroscientists. Microglia play important roles in the inflammatory process and in neuromodulation of the central nervous system. Microglia-mediated neuroinflammation is a key mechanism of neurocognitive dysfunction during the perioperative period.

Effect of T-regulatory cells and interleukin-35, interleukin-10, and transforming growth factor-beta on diffuse large B-cell lymphoma.

Background: Diffuse large B-cell lymphoma (DLBCL) is an aggressive non-Hodgkin lymphoma that affects B lymphocytes. It can develop in the lymph nodes and can be localized or generalized. Despite DLBCL being considered potentially curable, little research has been conducted on the relationship between the body's immune response and DLBCL.

Risk factors of positive depression screening during the third trimester of pregnancy in a Chinese tertiary hospital: a cross-sectional study.

Objective: Pregnant women experience enormous psychological pressure, particularly during the late trimester. Symptoms of depression in late pregnancy may persist postpartum, increasing the incidence of postpartum depression. This study is aimed to investigate the factors influencing depressive symptoms among pregnant women in their third trimester at a Chinese tertiary hospital and provide information for effective intervention.

Comprehensive nursing program for children with epilepsy: A randomized controlled trial.

Background: Epilepsy is a relatively common childhood neurological disease. Children with epilepsy need to take precautions to minimize seizure damage in order to adapt to seizures and manage them.

Aim: The current study aimed to evaluate the feasibility and effects of a comprehensive nursing program for children with epilepsy to reduce children's symptoms of epilepsy.

and : angel or devil for necrotizing enterocolitis?

This study sheds light on that treatment with but not is entitled to protect against necrotizing enterocolitis (NEC) development potentially. The mechanisms behind the opposite effect on NEC may result in different modulation on the level of , which is deeply associated with intestinal homoeostasis. Briefly, through improving the abundance of to alleviate intestinal inflammation and enhance intestinal barrier integrity, supplement may become a promising therapy for NEC.

Hearing characteristics and otoradiological abnormalities in three patients with novel pathogenic variants of KMT2D-related Kabuki syndrome.

Background: Kabuki syndrome 1 (KS1; OMIM:147920), which is characterized by distinctive dysmorphic facial features (such as arched eyebrows, long palpebral fissures with eversion of the lower lid, and large protuberant ears), intellectual disability, short stature, and dermatoglyphic and skeletal abnormalities, is brought on by pathogenic variants in KMT2D (OMIM:602113). In this work, three individuals with novel pathogenic KMT2D gene variants had their longitudinal audiological manifestations and ear structural characteristics outlined.

Methods: The longitudinal audiological data from neonatal hearing screening and a battery of several hearing tests were evaluated.

Volume overload impedes the maturation of sarcomeres and T-tubules in the right atria: a potential cause of atrial arrhythmia following delayed atrial septal defect closure.

Adult patients with atrial septal defects (ASD), the most common form of adult congenital heart disease, often die of arrhythmias, and the immaturity of cardiomyocytes contributes significantly to arrhythmias. ASD typically induces a left-to-right shunt, which then leads to the right atrium (RA) volume overload (VO). Whether or not VO contributes to RA cardiomyocyte immaturity and thereby causes arrhythmias in adult patients with ASD remains unclear.

Composition and dynamics of intestinal fungi during the postnatal 2 months of very low birth weight infants.

Unlabelled: It has been found that intestinal fungi play a role in the composition of the intestinal microecology and in the formation and development of the immunity during childhood. We investigated the gut fungi composition of preterm infants to analysis composition and dynamics of intestinal fungi during the postnatal 2 months of very low birth weight infants. We collected feces from 34 very low birth weight infants (VLBWI) and 28 preterm infants with birth weight >1500 g.

[Clinical and genetic analysis of a rare fetus with Protein C deficiency due to compound heterozygous variants of PROC gene].

Objective: To explore the genetic etiology for a fetus with hydrocephalus and intraventricular hemorrhage.

Methods: Trio whole exome sequencing was carried out. Candidate variants were verified by Sanger sequencing of the fetus and its parents.

General anesthetic agents induce neurotoxicity through astrocytes.

Neuroscientists have recognized the importance of astrocytes in regulating neurological function and their influence on the release of glial transmitters. Few studies, however, have focused on the effects of general anesthetic agents on neuroglia or astrocytes. Astrocytes can also be an important target of general anesthetic agents as they exert not only sedative, analgesic, and amnesic effects but also mediate general anesthetic-induced neurotoxicity and postoperative cognitive dysfunction.

Influence of Melatonin Treatment on Emotion, Sleep, and Life Quality in Perimenopausal Women: A Clinical Study.

Method: 100 healthy perimenopausal women were recruited and randomly assigned to two groups, with 50 subjects in each group. In the control group, placebo was administrated daily for 3 cycles (4 weeks of treatment for 1 cycle and drug withdrawals for 1 week). The study group received 3 mg oral melatonin treatment daily in the same period of time.

Prediabetes and the risk of breast cancer: a meta-analysis.

Background: Diabetes has been related to a higher risk of breast cancer (BC) in women. However, it remains unknown whether the incidence of BC is increased in women with prediabetes. A systematic review and meta-analysis was therefore performed to evaluate the relationship between prediabetes and risk of BC.

Combination of trio-based whole exome sequencing and optical genome mapping reveals a cryptic balanced translocation that causes unbalanced chromosomal rearrangements in a family with multiple anomalies.

Balanced translocation (BT) carriers can produce imbalanced gametes and experience recurrent spontaneous abortions (RSAs) and even give birth to a child with complex chromosomal disorders. Here, we report a cryptic BT, t(5; 6) (p15.31; p25.

Emergence of a clinical isolate of E. coil ST297 co-carrying bla and mcr-1.1 in China.

Background: The coexistence of carbapenem resistance genes and mcr-1.1 in Enterobacterales has been an urgent and persistent threat to global public health. In this study, we isolated a clinical NB4833, an Escherichia coli isolate that co-carries mcr-1.

[Clinical and genetic analysis of two children with Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language due to de novo variants of MEF2C gene].

Objective: To explore the clinical characteristics and genetic etiology for two children with Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language (MEDHSIL).

Methods: Two children who had visited the Ningbo Women and Children's Hospital on October 15, 2021 were selected as the study subjects. Whole exome sequencing (WES) was carried out for both patients.