Novel gene mutation associated with central precocious puberty in a Chinese child: a case report.

Objective: The objective of this study is to investigate the clinical presentation and underlying genetic etiology of a Chinese child diagnosed with idiopathic central precocious puberty (ICPP).

Methods: Clinical data from a pediatric patient with ICPP, including medical history, physical examination findings, laboratory results, and imaging studies, were collected and analyzed. Whole exome sequencing (WES) was performed to identify potential pathogenic genetic variants underlying the patient's ICPP.

Malignant melanoma complicated with cataract and secondary glaucoma: A case report.

Uveal melanoma is the most common intraocular malignant tumor in adults. For patients presenting with cataracts and glaucoma, it is recommended to assess whether an intraocular lesion is present as the primary cause. The present study describes the case of a 52-year-old man with primary intraocular malignant melanoma.

[Analysis of epidemiological characteristics of respiratory pathogens in children with influenza-like illnesses in a children's hospital in Beijing from 2022 to 2023].

To investigate the status and epidemiological characteristics of respiratory pathogens infections in children with influenza-like illnesses (ILI) in Beijing Children's Hospital from 2022 to 2023. A dual amplification technique was used to detect nucleic acids of seven common respiratory pathogens, including influenza A virus (Flu A), influenza B virus (Flu B), mycoplasma pneumoniae (MP), respiratory syncytial virus (RSV), parainfluenza virus (PIV), adenovirus (ADV), and Chlamydia pneumoniae (CP), in outpatient and inpatient children (aged 0-18 years) with influenza-like symptoms who sought medical care at Beijing Children's Hospital, from January 2022 to March 2023. A total of 43 663 children were included in the study, of which 27 903 tested positive for respiratory pathogens with a total detection rate of 63.

Comparative study on genomic and epigenomic profiles of retinoblastoma or tuberous sclerosis complex via nanopore sequencing and a joint screening framework.

Recurrence and extraocular metastasis in advanced intraocular retinoblastoma (RB) are still major obstacles for successful treatment of Chinese children. Tuberous sclerosis complex (TSC) is a very rare, multisystemic genetic disorder characterized by hamartomatous growth. In this study, we aimed to compare genomic and epigenomic profiles with human RB or TSC using recently developed nanopore sequencing, and to identify disease-associated variations or genes.

Subcutaneous panniculitis-like T-cell lymphoma associated with hemophagocytic lymphohistiocytosis: a systematic review of 63 patients reported in the literature.

To review and summarize the clinical features, treatment strategies, and prognosis of subcutaneous panniculitis-like T-cell lymphoma complicated with hemophagocytic lymphohistiocytosis (SPTCL-HLH). We searched the Web of Science, Embase, Cochrane Library, and PubMed databases. The keywords were subcutaneous panniculitis-like T-cell lymphoma and hemophagocytic lymphohistiocytosis or hemophagocytic syndrome.

Clinical Analysis of Chronic Active Epstein-Barr Virus Infection Involving the Gastrointestinal Tract.

Background: Chronic active Epstein‒Barr virus infection (CAEBV) is an intractable and progressive disease. T cells or NK cells infected by EBV can proliferate and infiltrate into multiple organs. CAEBV combined with gastrointestinal involvement is a rare clinical disease that has not been well described, and sometimes it may clinically mimic gastroenteritis or inflammatory bowel disease.

Case Report: First Case of Endophthalmitis Caused by an Emerging Pathogen: .

endophthalmitis is a relatively uncommon form of endophthalmitis seen in clinical patients. In general, endophthalmitis tends to carry a poor prognosis. Here, we report a 3-year-old child who was admitted to the hospital due to a rupture of the left eye.

Vaginal tumours in childhood: a descriptive analysis from a large paediatric medical centre.

Purpose: Malignant tumours of the vagina are very rare in children. The purpose of this study was to retrospectively analyse the clinical presentation, treatment, and outcome of vaginal tumours in children treated in a single institution.

Methods: This study retrospectively analysed the clinical data of children diagnosed with vaginal malignant tumours who were admitted to the Beijing Children's Hospital of Capital Medical University from January 2007 to December 2020 and followed these patients to observe their prognoses and outcomes.

Congenital midureteral stenosis in children: a 13-year retrospective study based on data from a large pediatric medical center.

Background: Midureteral stenosis is very rare in children and can cause congenital hydronephrosis. We report our experience treating children with congenital midureteral stenosis at our center, focusing on the differences in preoperative diagnosis and treatment compared with other congenital obstructive uropathies.

Methods: We retrospectively reviewed the medical records of 26 children diagnosed with congenital midureteral stenosis at our center between January 2007 and December 2020, such as preoperative examination methods, intraoperative conditions, and postoperative follow-up results.

Patient-specific iPSC-derived endothelial cells reveal aberrant p38 MAPK signaling in atypical hemolytic uremic syndrome.

Atypical hemolytic uremic syndrome (aHUS) is a rare disease associated with high morbidity and mortality. Existing evidence suggests that the central pathogenesis to aHUS might be endothelial cell damage. Nevertheless, the role of endothelial cell alterations in aHUS has not been well characterized and the underlying mechanisms remain unclear.

Clinical Analysis of Pediatric Systemic Juvenile Xanthogranulomas: A Retrospective Single-Center Study.

To investigate the clinical characteristics, treatment, and prognosis of children with systemic juvenile xanthogranuloma (JXG). Clinical data of children with JXG who were hospitalized in Beijing Children's Hospital, Capital Medical University, from January 2012 to December 2019 were retrospectively analyzed, including clinical manifestations, laboratory determinations, treatment, and prognosis of the children. Patients were treated with vindesine + prednisone as the first-line treatment and cytarabine + vindesine + dexamethasone ± cladribine as the second-line treatment.

Clinical analysis of chronic active EBV infection with coronary artery dilatation and a matched case-control study.

Objective: To investigate the clinical characteristics, treatment, prognosis and risk factors for chronic active Epstein-Barr Virus infection (CAEBV) associated with coronary artery dilatation (CAD) in children.

Methods: Children with CAEBV associated with CAD hospitalized at Beijing Children's Hospital, Capital Medical University from March 2016 to December 2019 were analyzed. Children with CAEBV without CAD were selected as the control group and matched by sex, age, treatment and admission time.

Short-term effectiveness of ruxolitinib in the treatment of recurrent or refractory hemophagocytic lymphohistiocytosis in children.

To investigate the efficacy and safety of the Janus kinase inhibitor ruxolitinib in the treatment of recurrent or refractory hemophagocytic lymphohistiocytosis (HLH) in children. We performed a retrospective analysis of ruxolitinib in children with recurrent or refractory HLH in Beijing Children's Hospital. All patients were treated firstly with HLH-94 protocol.

Protocol and Guidelines for Point-of-Care Lung Ultrasound in Diagnosing Neonatal Pulmonary Diseases Based on International Expert Consensus.

Ultrasound is a safe bedside imaging tool that obviates the use of ionizing radiation diagnostic procedures. Due to its convenience, the lung ultrasound has received increasing attention from neonatal physicians. Nevertheless, clear reference standards and guideline limits are needed for accurate application of this diagnostic modality.

Urinary CD80 excretion is a predictor of good outcome in children with primary nephrotic syndrome.

Background: The level of urinary cluster of differentiation 80 (uCD80) is elevated in most children with minimal change disease (MCD) as opposed to focal segmental glomerulosclerosis (FSGS) during the acute phase. The objective of this follow-up study was to evaluate whether uCD80 elevation is actually associated with MCD and whether it signals better prognosis.

Methods: We evaluated uCD80 levels and a series of putative progression factors in a cohort of 64 patients with nephrotic syndrome (NS) seen between 2011 and 2016.

Flow cytometric analyses of the viability, surface marker expression and function of lymphocytes from children following cryopreservation.

Flow cytometric analysis is important for the investigation and clinical preparation of lymphocytes from children. However, the strict requirement of cell freshness and inter‑assay variability limits the application of this methodology for pediatric investigations. Therefore, it is necessary to identify a reliable cryopreservative method capable of maintaining high cell viability and proper cell function in lymphocytes from children.

Allogeneic Hematopoietic Stem Cell Transplantation in Thirty-Four Pediatric Cases of Mucopolysaccharidosis-A Ten-Year Report from the China Children Transplant Group.

We investigated the efficacy of allogeneic hematopoietic stem cell transplantation (alloHSCT) in pediatric patients with mucopolysaccharidosis (MPS). A retrospective analysis of transplantation data from 34 cases of MPS from the China Children Transplant Group, treated between December 2004 and September 2015, was conducted. Among the 34 cases, 12 cases were type I, 12 were type II, 4 were type IV, 4 were type VI, and 2 were of an unknown type.

Congenital hyperinsulinism in Chinese patients: 5-yr treatment outcome of 95 clinical cases with genetic analysis of 55 cases.

Aim: The aim of this study is to investigate the clinical features, therapeutic outcomes, and genetic mutations of congenital hyperinsulinism (CHI) in Chinese patients.

Methods: The clinical features and therapeutic outcomes of 95 CHI cases were recorded, and genetic analyses were conducted to identify mutations in ABCC8 and KCNJ11 in 55 cases. Direct sequencing was carried out in 25 of the cases with ABCC8 and KCNJ11 mutations.

Application of clinico-radiologic-pathologic diagnosis of diffuse parenchymal lung diseases in children in China.

Unlabelled: Diffuse parenchymal lung diseases in children (chDPLD) or interstitial lung diseases in children (chILD) represent a heterogeneous group of respiratory disorders that are mostly chronic and associated with high morbidity and mortality. However, the incidence of chDPLD is so low that most pediatricians lack sufficient knowledge of chDPLD, especially in China. Based on the clinico-radiologic-pathologic (CRP) diagnosis, we tried to describe (1) the characteristics of chDPLD and (2) the ratio of each constituent of chDPLD in China.

Growth and development of children prenatally exposed to telbivudine administered for the treatment of chronic hepatitis B in their mothers.

Objectives: We studied the growth and development of children prenatally exposed to telbivudine used to treat chronic hepatitis B virus (HBV) infection in their mothers.

Methods: Maternal abnormalities during pregnancy and delivery and infant congenital anomalies, physical development status, developmental quotient (DQ), HBV vertical transmission status, and HBV vaccination outcomes of 54 infants were evaluated (2010-2013).

Results: No fetal abnormalities were observed during pregnancy or delivery.

Effectiveness of multiple daily injections or continuous subcutaneous insulin infusion for children with type 1 diabetes mellitus in clinical practice.

Aims. To determine whether multiple daily injections (MDIs) or continuous subcutaneous insulin infusion (CSII) contributes to better glucose control in children with different type 1 diabetes duration. Methods.

Pediatric tuberculosis at Beijing Children's Hospital: 2002-2010.

Objective: Our aim was to describe the patient characteristics, clinical-epidemiological profile, and treatment outcome of childhood tuberculosis (TB).

Methods: A retrospective, descriptive study was undertaken of 1212 children aged 0 to 18 years admitted to Beijing Children's Hospital for the treatment of TB from January 2002 to December 2010. Statistical significance of category variables was evaluated by using Fisher's exact test.

Community-acquired, methicillin-resistant Staphylococcus aureus isolated from children with community-onset pneumonia in China.

Community-acquired, methicillin-resistant Staphylococcus aureus (CA-MRSA) has been associated with morbidity and mortality in various countries. In this study, we characterized the molecular and clinical features of pediatric CA-MRSA pneumonia in China. Between June 2006 and February 2008, 55 previously healthy children confined in eight hospitals countrywide were found to be afflicted with CA-MRSA pneumonia.

Molecular epidemiological analysis of methicillin-resistant Staphylococcus aureus isolates from Chinese pediatric patients.

To investigate the molecular epidemiological analysis of methicillin-resistant Staphylococcus aureus (MRSA) isolates from five pediatric hospitals in China. Seventy-three MRSA isolates were analyzed by a combination of different genotyping methods, including multilocus sequence typing (MLST), SCCmec and spa typing. Panton-Valentine Leukocin (PVL) gene was also detected.