Establishment of an induced pluripotent stem cell line from a patient with X-linked Alport syndrome carrying a hemizygous splicing variant (NM_033380; c.929[exon 16]delG) in the collagen type IV alpha 5 chain gene.

X-linked hereditary Alport syndrome (XLAS) type 1 (OMIM: 301050) results from a pathogenic variant in the collagen type IV alpha 5 chain (COL4A5) gene.A human induced pluripotent stem cell (iPSC) line was generated from peripheral blood mononuclear cells of a 7-year-old male patient with XLAS using non-integrating episomal vector technique. The male donor had a heterozygous variant in the COL4A5 gene.

Targeting RBM39 through indisulam induced mis-splicing of mRNA to exert anti-cancer effects in T-cell acute lymphoblastic leukemia.

Background: Despite the use of targeted therapeutic approaches, T-cell acute lymphoblastic leukemia (T-ALL) is still associated with a high incidence of complications and a poor prognosis. Indisulam (also known as E7070), a newly identified molecular glue compound, has demonstrated increased therapeutic efficacy in several types of cancer through the rapid degradation of RBM39. This study aimed to evaluate the therapeutic potential of indisulam in T-ALL, elucidate its underlying mechanisms and explore the role of the RBM39 gene.

[Chest computed tomography manifestations in neonates with chronic granulomatous disease].

Objectives: To study chest computed tomography (CT) manifestations in neonates with chronic granulomatous disease (CGD) to provide clues for early diagnosis of this disease.

Methods: A retrospective analysis was conducted on the clinical data and chest CT scan results of neonates diagnosed with CGD from January 2015 to December 2022 at Anhui Provincial Children's Hospital.

Results: Nine neonates with CGD were included, with eight presenting respiratory symptoms as the initial sign.

[Application of external fixator combined with Kirschner wire fixation for oblique and comminuted distal humeral metaphyseal-diaphyseal junction fractures in children].

Objective: To analyze the effectiveness of external fixator combined with Kirschner wire (EF-KW) fixation in the treatment of oblique and comminuted distal humeral metaphyseal-diaphyseal junction (DHMDJ) fractures in children.

Methods: A clinical data of 22 children with DHMDJ fractures who met the selection criteria between April 2021 and December 2023 was retrospectively analyzed. All patients were treated with EF-KW fixation.

Laparoscopic Ureteral Reconstruction in Children with Retrocaval Ureter: A Modern Single Center Retrospective Study.

This study aims to report our experience in the treatment of children with retrocaval ureter (RCU) using laparoscopic ureteral reconstruction surgery. We retrospectively collected clinical data from 10 pediatric patients with RCU who underwent laparoscopic surgery at our hospital from April 2010 to April 2022. All patients underwent comprehensive preoperative radiological assessment and were diagnosed with RCU, subsequently undergoing laparoscopic ureteral reconstruction.

Silencing DOCK2 Attenuates Cardiac Fibrosis Following Myocardial Infarction in Mice Via Targeting PI3K/Akt and Wnt/β-Catenin Pathways.

Cardiac fibrosis following myocardial infarction (MI) seriously affects the prognosis and survival rate of patients. This study aimed to determine the effect and regulation mechanism of the dedicator of cytokinesis 2 (DOCK2) during this process. Experiments were carried out in mice in vivo, and in Ang II treated cardiac fibroblasts (CFs) in vitro.

Nucleotide excision repair gene polymorphisms and hepatoblastoma susceptibility in Eastern Chinese children: A five-center case-control study.

Objective: Nucleotide excision repair (NER) plays a vital role in maintaining genome stability, and the effect of NER gene polymorphisms on hepatoblastoma susceptibility is still under investigation. This study aimed to evaluate the relationship between NER gene polymorphisms and the risk of hepatoblastoma in Eastern Chinese Han children.

Methods: In this five-center case-control study, we enrolled 966 subjects from East China (193 hepatoblastoma patients and 773 healthy controls).

ImmRNA: a database of RNAs associated with tumor immunity.

The relationship between different ribonucleic acids (RNAs) and tumor immunity has been widely investigated. However, a systematic description of tumor immune-related RNAs in different tumors is still lacking. We collected the relationship of tumor immune-related RNAs from the published literature and presented them in a user-friendly interface, "ImmRNA" (http://www.

Does the presence of blind-ended vas deferens and spermatic vessels in laparoscopic exploration of non-palpable testes conclusively indicate testicular absence?

Objective: The purpose of this study was to determine whether the presence of blind-ended vas deferens and spermatic vessels (VDSV) during laparoscopic exploration of non-palpable testes (NPT) indicates testicular absence or atrophy.

Materials And Methods: A retrospective analysis was conducted on clinical data of patients diagnosed with NPT and treated with surgical intervention at our center from April 2013-April 2023. The dataset encompassed information such as the children's age, affected side, size of the contralateral testis, surgical procedures employed, outcomes, and histopathological examination results.

GSDME-mediated pyroptosis promotes anti-tumor immunity of neoadjuvant chemotherapy in breast cancer.

Paclitaxel and anthracycline-based chemotherapy is one of the standard treatment options for breast cancer. However, only about 6-30% of breast cancer patients achieved a pathological complete response (pCR), and the mechanism responsible for the difference is still unclear. In this study, random forest algorithm was used to screen feature genes, and artificial neural network (ANN) algorithm was used to construct an ANN model for predicting the efficacy of neoadjuvant chemotherapy for breast cancer.

Exploring the relationship between life course adiposity and sepsis: insights from a two-sample Mendelian randomization analysis.

Objectives: The relationship between adiposity and sepsis has received increasing attention. This study aims to explore the causal relationship between life course adiposity and the sepsis incidence.

Methods: Mendelian randomization (MR) method was employed in this study.

Effect analysis of repeated transcranial magnetic stimulation combined with fluoxetine in the treatment of first-episode adolescent depression.

Objectives: This study aims to evaluate the efficacy of repeated transcranial magnetic stimulation (rTMS) combined with fluoxetine in enhancing the early antidepressant response in first-episode adolescent depression cases, providing insights for patient diagnosis and treatment.

Methods: One hundred and thirty-five adolescents experiencing their first depressive episode were randomly assigned to either a sham group treated with fluoxetine or to low or high repetitive transcranial magnetic stimulation (rTMS) groups receiving both rTMS and fluoxetine. Therapeutic effects were assessed by comparing changes in Hamilton Depression Scale (HAMD-17) scores, cognitive function scores from the Wisconsin Card Sorting Test (WCST), and Clinical Global Impression-improvement (CGI-I) scores, along with recording adverse reactions.

Treatment of telangiectasias with a 595-nm pulsed dye laser following hemangioma involution: a retrospective analysis.

Telangiectasias are the most frequent type of sequelae of infantile hemangiomas after involution. Few studies have reported the treatment of telangiectasias with 595-nm pulsed dye lasers. Therefore, the objective of this study was to assess the efficacy and safety of a 595-nm pulsed dye laser for treating residual telangiectasias following hemangioma involution.

Analysis of the nursing effects of integrated medical and nursing care intervention in correction surgery for children with concealed penis.

Objective: This study aimed to analyze and explore the nursing effects of integrated medical and nursing care intervention in correction surgery for children with concealed penis.

Methods: A total of 76 eligible patients with concealed penis were randomly divided into an observation group and a control group. The control group received conventional nursing care, while the observation group received integrated medical and nursing care intervention.

Strong, bacteriostatic and transparent polylactic acid-based composites by incorporating quaternary ammonium cellulose nanocrystals.

Renewable natural fibers (e.g., cellulose nanocrystals (CNCs)) are being applied for reinforcing bio-based polylactic acid (PLA).

Precise antibiotic delivery to the lung infection microenvironment boosts the treatment of pneumonia with decreased gut dysbiosis.

Bacterial pneumonia is a common disease with significant health risks. However, the overuse antibiotics in clinics face challenges such as inadequate targeting and limited drug utilization, leading to drug resistance and gut dysbiosis. Herein, a dual-responsive lung inflammatory tissue targeted nanoparticle (LITTN), designed for targeting lung tissue and bacteria, is screened from a series of prepared nanoparticles consisting of permanent cationic lipids, acid-responsive lipids, and reactive oxygen species-responsive and phenylboronic acid-modified lipids with different surface properties.

Expression of GD2 and GD3 in peripheral neuroblastic tumors.

Purpose: The aim of this study was to explore the correlation between the expression of GD2 and GD3 and the histopathological types, risk groups, and chemotherapy in peripheral neuroblastic tumors (pNTs) and provide a theoretical basis for the selection of immunotargeted therapy for pNTs.

Materials And Methods: The expression of GD2 and GD3 in samples of pNTs in all 87 cases, including 39 neuroblastomas (NB), 13 ganglion neuroblastomas nodular (GNBn), 19 ganglion neuroblastomas intermixed (GNBi), 16 ganglioneuroma (GN), and 16 paired NB after chemotherapy, were detected by immunohistochemistry (IHC). SPSS 20.

Underlying Mechanism of Lysosomal Membrane Permeabilization in CNS Injury: A Literature Review.

Lysosomes play a crucial role in various intracellular pathways as their final destination. Various stressors, whether mild or severe, can induce lysosomal membrane permeabilization (LMP), resulting in the release of lysosomal enzymes into the cytoplasm. LMP not only plays a pivotal role in various cellular events but also significantly contributes to programmed cell death (PCD).

Efficacy comparison between Mathieu combined urethral plate incision and onlay island flap urethroplasty for distal hypospadias in patients with urethral plate stenosis.

The aim of the study was to compare the efficacy of Mathieu combined urethral plate incision (Mathieu-IP) versus onlay island flap urethroplasty in patients with distal hypospadias complicated by urethral stenosis. The clinical data of 70 patients with distal hypospadias complicated by urethral plate stenosis treated in the Department of Urology, Anhui Provincial Children's Hospital (Hefei, China), from May 2019 to May 2022, were retrospectively analyzed. Thirty-eight patients underwent Mathieu-IP (Mathieu-IP group) and 32 underwent onlay island flap urethroplasty (Onlay group).

Fertility preservation in male adolescents with cancer (2011-2020): A retrospective study in China.

Background: According to the studies, more than 80% of pediatric patients with cancer can achieve a survival rate greater than 5 years; however, long-term chemotherapy and/or radiation therapy may seriously affect their reproductive ability. Fertility preservation in adolescents with cancer in China was initiated late, and related research is lacking. Analyze data to understand the current situation and implement measures to improve current practices.

l-Carnosine loaded on carboxymethyl cellulose hydrogels for promoting wound healing.

Wound management remains a challenge in clinical practice. Nowadays, patients have an increasing demand for wound repair with enhanced speed and quality; therefore, there is a great need to seek therapeutic strategies that can promote rapid and effective wound healing. In this study, we developed a carboxymethyl cellulose hydrogel loaded with l-carnosine (CRN@hydrogel) for potential application as a wound dressing.