Two distinct clinical progressions of P67phox-deficient CGD, both commencing with cervical lymphadenitis.

We present two rare cases of p67phox-deficient chronic granulomatous disease (CGD) caused by compound heterozygous mutations in the NCF2 gene. They developed cervical lymphadenitis as the initial manifestation of CGD but had distinct clinical progressions. Patient 1 presented with aspergillous meningitis, an extremely rare manifestation of neurological involvement in CGD, which has not been reported before.

Clinical characteristics of Chinese children with EV-D68-associated pneumonia: A single-center retrospective analysis.

Background: Human enterovirus D68 (EV-D68) has been associated with an increase in mild-to-severe pediatric respiratory diseases in western countries. However, the prevalence and clinical characteristics of EV-D68-associated pneumonia in China remain understudied.

Methods: Between January 2022 and January 2024, 28 patients with EV-D68-associated pneumonia were enrolled.

A rare family outbreak of infection in immunocompetent fraternal triplets.

Background: () infection is rare in children who were previously healthy, particularly in infants. We present the first report of a family outbreak of infection among immunocompetent infant triplets.

Methods: We reviewed triplets' demographic data, laboratory tests and imaging examinations to describe their clinical features.

Interstitial Lung Disease in a 14-Year-Old Boy.

A 14-year-old Chinese boy presented with a 7-year history of exertional dyspnea and reduced exercise tolerance. His perinatal and family histories were unremarkable. He was short and underweight for his age since childhood but had normal intellectual development.

Clinical features and recurrence predictors of histiocytic necrotizing lymphadenitis in Chinese children.

Objectives: To characterize the clinical features and to identify the predictors of recurrence of histiocytic necrotizing lymphadenitis (HNL) in Chinese children.

Study Design: This study retrospectively analyzed the clinical characteristics, laboratory and pathological findings, and recurrence status of children diagnosed with HNL at a single center in China from January 2018 to May 2023. Logistic regression analysis was employed to identify predictors of HNL recurrence.

Epidemiological and clinical characteristics of hospitalized unintentional injuries among children in central China from 2017-2023.

Objectives: To examine the epidemiological and clinical characteristics of hospitalized unintentional injuries among children in Central China and theoretically propose preventive and control measures.

Methods: We conducted a retrospective study of children aged 0-18 years with unintentional injuries who were admitted to a tertiary hospital in Central China from January 2017 to December 2023. We examined various aspects of the unintentional injuries, including age, gender, urban-rural distribution, external causes, trends, location of injury, cost, and length of stay.

[Correlation of nutritional status with clinical characteristics and lung function in children with cystic fibrosis].

Objectives: To investigate the nutritional status of children with cystic fibrosis (CF) and understand the correlation between malnutrition and clinical characteristics as well as lung function.

Methods: A retrospective analysis was performed on clinical data of CF children admitted from January 2016 to June 2023. Clinical characteristics of CF children with different nutritional statuses were compared, and the correlation between malnutrition and lung function was analyzed.

Late-Onset Diffuse Lung Disease in an 8-Year-Old Girl.

An 8-year-old girl presented with a 34-day history of cough, fatigue, and impaired exercise tolerance. She experienced cyanosis on exertion but denied fever, hemoptysis, hematuria, or seizures. Her perinatal and family histories were unremarkable, and she had no history of exposure to TB.

Pulmonary Thrombotic Complication of Mycoplasma pneumoniae Pneumonia in Chinese Children: Clinical Feature and Risk Factor Analysis.

Background: Thrombotic disease is a rare but severe complication of Mycoplasma pneumoniae pneumonia in children, with pulmonary thrombosis (PT) being the most frequent type. This study aims to describe the clinical features of pediatric severe Mycoplasma pneumoniae pneumonia (SMPP) patients with PT, and to identify risk factors predictive of PT development in this population.

Methods: We retrospectively enrolled 60 children with SMPP complicated by PT who were admitted to Children's Hospital Affiliated to Zhengzhou University from January 2019 to October 2023.

Clinical and genetic analysis of two patients with primary ciliary dyskinesia caused by a novel variant of DNAAF2.

Background: The study describes the clinical manifestations and variant screening of two Chinese siblings with primary ciliary dyskinesia (PCD). They carry the same DNAAF2 genotype, which is an extremely rare PCD genotype in the Chinese population. In addition, the study illustrated an overview of published variants on DNAAF2 to date.

Clinical and genetic characteristics of children with cystic fibrosis in Henan China: A single-center retrospective analysis.

Background: Despite the growing awareness of cystic fibrosis (CF) in China, few cases have been reported in Henan, which is the most populous province in the country. This study aimed to describe the clinical phenotype and genotype of children with CF in Henan.

Methods: We retrospectively recruited 18 Chinese children with CF who presented to Children's Hospital affiliated to Zhengzhou University from January 2019 to June 2023.

Case report: COPA syndrome with interstitial lung disease, skin involvement, and neuromyelitis spectrum disorder.

This report describes a case of a 22 months Chinese boy with COPA syndrome bearing the c.715G > C (p.A239P) genotype.

Pilot study of archimedes virtual bronchoscopic navigation system-guided biopsy to diagnose lung nodules in children.

Background: Peripheral pulmonary lesions are uncommon in children. Bronchoscopy is a minimal invasive method to obtain a diagnostic lung biopsy. However, due to the lack of effective guidance methods, the diagnostic efficacy of transbronchial lung biopsy for peripheral solitary pulmonary diseases is still limited.

Case report of a pediatric Chinese cystic fibrosis patient with the c.1521_1523delCTT/c.3874-4522A>G genotype.

This report describes a case of an 11-year-old Chinese boy with cystic fibrosis (CF) bearing the c.1521_1523delCTT/c.3874-4522A>G genotype, an extremely rare CF genotype in the Chinese population.

Genetic spectrum of Chinese children with cystic fibrosis: comprehensive data analysis from the main referral centre in China.

Background And Objectives: Cystic fibrosis (CF) is a heterogeneous disease with a diverse genetic spectrum among populations. Few patients with CF of Chinese origin have been reported worldwide. The objective of this study is to characterise the genotypic features of CF in Chinese children.

Childhood-onset Takayasu arteritis presenting as pyoderma gangrenosum-like vasculitic ulceration: Three case reports and a literature review.

We report a small case series of childhood-onset Takayasu arteritis (c-TA) presenting as pyoderma gangrenosum (PG)-like vasculitic ulceration. The cutaneous vasculitic ulcers in systemic vasculitis are rare and severe, sometimes leading to delayed diagnosis and treatment. We summarised the clinical features and highlighted the warning signs of c-TA associated with PG-like vasculitic ulceration.

A review of cystic fibrosis: Basic and clinical aspects.

Cystic fibrosis is an autosomal recessive disease caused by mutations of the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR). Here we summarize, at the basic descriptive level, clinical and genetic characteristics of cystic fibrosis gene mutations, while emphasizing differences between CF mutations found in Chinese pediatric CF patients compared to those found in Caucasian CF patients. In addition, we describe animal models used to study human cystic fibrosis disease and highlight unique features of each model that mimic specific human CF-associated signs and symptoms.