Clinical and genetic characteristics of Chinese pediatric patients with chronic granulomatous disease.

Background: Chronic granulomatous disease (CGD) is a rare disease in China, and very little large-scale studies have been conducted to date. We aimed to investigate the clinical and genetic features of CGD in Chinese pediatric patients.

Methods: Pediatric patients with CGD from Beijing Children's Hospital, Capital Medical University, China, were enrolled from January 2006 to December 2016.

[Clinical analysis of a Chinese child with leukocyte adhesion deficiency type 1].

Objective: Leukocyte adhesion deficiency type 1 (LAD-I) is rare. We present 1 case of LAD-I patient diagnosed by gene analysis. His clinical manifestations and genetic mutation features are analyzed in this article.

[Clinical characteristics and predictive factors of refractory Mycoplasma pneumoniae pneumonia].

Objective: To investigate clinical characteristics and predictive factors of refractory Mycoplasma pneumoniae pneumonia (RMPP) in children so as to recognize and treat the disease earlier.

Method: The data including febrile time, inflammatory markers (WBC, neutrophil, CRP) and radiological features of 213 children hospitalized with Mycoplasma pneumoniae pneumonia (MPP) (72 with refractory MPP and 141 with mild MPP were retrospectively analyzed). The primary diagnostic criteria of refractory MPP: the patient's condition still deteriorates after treatment with macrolides for more than 5 days.

[Clinical manifestations and gene analysis of 2 Chinese children with cystic fibrosis].

Objective: Cystic fibrosis (CF) is rare in Chinese mainland. We present two cases of CF patients diagnosed by gene analysis. Their clinical manifestations and genetic mutation features are analyzed in this article.

[Clinical analysis of 20 cases with Streptococcus pneumoniae necrotizing pneumonia in China].

Objective: Streptococcus pneumoniae necrotizing pneumonia (SPNP) was reported elsewhere but not in China yet. Inappropriate treatment due to poor recognition of this disease could influence its prognosis. This paper presents the clinical characteristics, diagnosis and treatment of SPNP hoping to elevate pediatrician's recognition level for this disease.

[Clinical features and molecular analysis of 2 Chinese children with autosomal recessive chronic granulomatous disease caused by CYBA mutations].

Objective: To summarize clinical and molecular features of two children with autosomal recessive chronic granulomatous disease caused by CYBA mutations.

Method: The clinical records and CYBA mutations were reviewed for analysis of infections and inflammatory complications.

Result: The first case was a girl diagnosed with "liver and spleen abscess" in our hospital when she was 2.

[Clinical features of 3 cases with acute interstitial pneumonia in children].

Objective: Acute interstitial pneumonia (AIP) is a rare lung interstitial disease in children. This study was conducted to understand the clinical features of the AIP in children.

Method: The data of the three cases with AIP admitted to our hospital from March 2008 to November 2009 were reviewed.

[Idiopathic interstitial pneumonias in 7 children].

Objective: Idiopathic interstitial pneumonias (IIPs) have been increasing in children in recent years. The type and prognosis of IIPs in children in China has not been clear. The purpose of this study was to investigate the type and prognosis of IIPs in children.

[Clinical analysis of 18 children with disseminated Bacille Calmette-Guérin infection].

Objective: To explore the clinical manifestation, immune abnormality and outcome of disseminated Bacille Calmette-Guérin (BCG) infection in children.

Method: The clinical data of 18 children with disseminated BCG infection seen from January 2000 to December 2007 were analyzed retrospectively.

Result: Thirteen of the children were male among 18 patients.

[Diagnosis and treatment of invasive pulmonary aspergillosis in 21 children with non-hematologic diseases].

Objective: To explore diagnosis and treatments of invasive pulmonary aspergillosis (IPA) in children with non-hematologic diseases.

Method: Twenty one patients without hematological malignancy were diagnosed with proven or possible IPA from July 2002 to June 2008. The risk factors, clinical manifestations, chest radiographic findings, microbiological and histopathological evidence, diagnostic procedures, treatment and prognosis were retrospectively reviewed.

[Recurrent massive bloody pleural effusion caused by pancreatic pleural fistula in a case].

Objective: To introduce the early clinical features and the main points of diagnosis and treatment of children with pancreatic pleural fistula presenting massive bloody pleural effusion.

Method: The clinical data of symptoms, signs, laboratory examination, diagnosis and treatment methods of pancreatic pleural fistula in a child are presented.

Result: A 4-year-old boy presented with one month history of intermittent fever, cough, chest tightness and chest pain.

[Value of serum galactomannan assay in the diagnosis of pediatric invasive pulmonary aspergillosis].

Objective: Galactomannan (GM) is a major aspergilli cell-wall constituent released into circulation during the early stage of invasive disease, and can be detected. Many studies suggest that serum galactomannan assay has an excellent sensitivity and specificity for the early diagnosis of adult invasive aspergillosis (IA). However, there have been few studies on serum galactomannan assay in pediatric patients.

[Association of NRAMP1 gene polymorphisms with the susceptibility to tuberculosis in ethnic Han Chinese children].

Objective: Tuberculosis is still a public health problem. Host genetic factors, such as polymorphisms in NRAMP1 gene, may play a role in the development of tuberculosis. To clarify the effect of NRAMP1 gene polymorphisms on the development of childhood tuberculosis, the association of NRAMP1 gene polymorphisms with susceptibility to tuberculosis in the ethnic Han Chinese children was investigated.

SLC11A1 (Formerly NRAMP1) gene polymorphisms associated with pediatric tuberculosis in China.

Background: Tuberculosis is an urgent public health problem caused by Mycobacterium tuberculosis infection. Many factors, including host genetic factors, are involved in tuberculosis pathogenesis. The SLC11A1 gene (formerly NRAMP1) is a primary candidate for association with tuberculosis susceptibility.

Lack of association between polymorphisms in the P2X7 gene and tuberculosis in a Chinese Han population.

Several studies have suggested that genetic factors may affect the susceptibility of a population to tuberculosis, and it has been found that P2X7 is linked to an increased risk for tuberculosis in some West African, Southeast Asian, North American, and North European populations. To explore the potential role of P2X7 in the susceptibility to tuberculosis among members of the Chinese Han population, we evaluated the association of the 1513A-->C and -762T-->C polymorphisms in P2X7 with the risk for tuberculosis. PCR amplification of genomic DNA was followed by restriction fragment length polymorphism analysis, and allele-specific PCR was used.

[Clinical features of 17 cases of X-linked agammaglobulinemia].

Objective: To investigate clinical features of X-linked agammaglobulinemia (XLA) in children.

Methods: The medical records of 17 children with XLA between January 2001 and April 2007 were reviewed.

Results: The age at first diagnosis in 88.

[Diffuse panbronchiolitis in a child: case report and literature review].

Objective: Diffuse panbronchiolitis (DPB) is a chronic progressive disease of the lower respiratory tract, which is prevalent in Asian population. So far, many DPB cases have been found in adults in China. To our knowledge, no pediatric DPB case has ever been reported in China.