Objective To study the clinical characteristics and the effect of enzyme replacement therapy for late-onset glycogen storage disease typeⅡ(GSDⅡ). Methods The clinical, laboratory data and the result of genetic testing were retrospectively analyzed in a GSDⅡchild, the effect of enzyme replacement therapy was followed up and the relevant literature was reviewed. Results The patient had motor regression after 1 year old, the serum creatine kinase level is from 675 to 1286 U/L. The EMG test showed myopathic change, acid alpha-glucosidase activity is 12.0 nmol/(g·min), next generation sequencing of genetic muscle diseases panel found the GAA compound heterozygous mutations, both were tiny variations, and muscle biopsies showed the typical pathological features of GSD. The patient was given human recombinant of alpha glucoside enzyme 20 mg per kilogram of body weight, once every other week for 1 year. The weakness of the patient’s muscle strength had no obvious aggravation. Conclusions Early and adequate enzyme replacement therapy is the only possible treatment for GSDⅡ.

Objective To investigate the clinical features of paroxysmal kinesigenic dyskinesia (PKD) and the mutation features of its pathogenic gene proline-rich transmenbrane protein 2 (PRRT2). Method The clinical manifestations and genetic tests of one case of PKD were retrospectively analyzed, and the related literatures were reviewed. Results A 10 year and 9 month male patient was recruited. The age of dyskinesias onset was 7 year and 6 month. The descriptions of the attacks were abnormal involuntary movements which were induced by sudden voluntary movements and presented with dystonia. The frequency of the attacks was three to ifve times per day with the duration lasting ten to twenty seconds, and there is no loss of consciousness. Treatment with oxcarbazepine is effective. A heterozygous mutation in PRRT2 gene, c.649_650insC (p. 217fs224X), was found by genetic testing, and the mutation was inherited from the patient’s mother who showed no symptom of PKD. Conclusion The onset age of PKD could be in the childhood and adolescence. The attack is provoked by sudden movements and the duration time is short. Treatment with antiepileptic drug is effective. The test of PRRT2 gene may help diagnosis. Mutation c.649_650insC is the hotspot mutation of the gene.

Objective To investigate the pathogenic types and clinical features of children with lobar pneumonia. Methods Eighty children with lobar pneumonia diagnosed from April 2013 to May 2015 were enrolled. Bronchoalveolar lavage lfuid (BALF) of patients were collected. FQ-PCR was used to detect and analyze pathogens in BALF. Results In 80 cases, 59 cases were Mycoplasma pneumoniae, and 2 cases were Chlamydia pneumoniae, 12 cases were Streptococcus pneumoniae, 1 case was Klebsiella pneumoniae, 8 cases were adenovirus, 1 case was respiratory syncytial virus, 14 cases were of mixed infection. The prevalence of MP lobar pneumonia in children of 7-14 years old age group were higher than that of other age groups. Conclusions The pathogen of children with lobar pneumonia varied from Mycoplasma pneumoniae, Chlamydia pneumoniae, bacteria, virus and so on, and Mycoplasma pneumoniae was the common pathogen in lobar pneumonia.

Objective To explore the mixed infection of bacteria and viruses of community-acquired pneumonia (CAP) in children. Methods A total of 204 children with CAP were tested for sputum bacteria, viruses and atypical pathogen, and children with bronchoscope indications were performed with bronchoscope for alveolar lavage (BAL), and the BAL lfuid (BALF) was subjected to quantitative culture and intracellular bacteria detection. All the children were given antimicrobial sequential therapy. Results There were 153 strains of pathogenic bacteria isolated in 122 cases, the detection rate was 59.80%(122/204). Thirty cases were found with mixed bacterial and viral infections. BAL was performed on 70 cases, positive lavage germiculture were detected in 8 cases, of theses BALF specimen inducible co-stimulator (ICOS) positivity were found in 5 cases. Using BALF quantitative culture as control, the sensitivity of ICOS in the diagnosis of CAP was 37.50%and the speciifcity was 96.77%. In 30 cases of mixed infection with bacteria and viruses, 27 cases were younger than 5 years old, accounting for 90.00%. Duration of fever greater than 10 d in mixed infection group of children (43.33%, 13/30) was higher than that of the non-mixed infection group (23.12%, 40/173) (P??0.05). Average hospitalization time in children with mixed infection (13.5+1.5) d was higher than that with non-mixed infection (8.6+1.1) d (P?clinical manifestations, treatment and prognosis were not signiifcantly different from the group with non-mixed infection.

Objective To evaluate the effect of therapeutic patient education on improving life quality of children with atopic dermatitis (AD). Methods A total of 109 children with AD were enrolled, including 53 patients in the intervention group and 56 patients in the control group. The intervention group was given therapeutic patient education in addition to routine treatment, while the control group was given routine treatment without therapeutic patient education. After three months two groups were compared with the disease severity and quality of life in children and their families. Results Compared with control group, the intervention group had significant improvements in severity of AD (P?=?0.003) and also significant improvements in quality of life (IDQOL and CDLQI) (P?=?0.004). The family life quality (DFI) of the two groups were both improved, but the difference was not signiifcant (P?=?0.492). Conclusions Therapeutic patient education can improve symptoms of atopic dermatitis, and the quality of life of children as well.

Pediatric inherited cancer predisposition syndromes are a group of diseases caused by germ-line mutation of cancer related genes. The patients are susceptible to cancers. TP53 germ-line mutation is the most commonly seen mutant gene in cancers that accounts for 20%-30%of all germ-line mutations of inherited cancers. TP53 gene mutation screening could help clinicians to better manage the patients and their family members.

Objective To investigate the incidence of the ETV6/RUNX1 fusion gene among Chinese pediatric patients with B-ALL and its effect on the prognosis. Methods A total of 723 patients with B-ALL from January 1, 2007 to December 31, 2014 were enrolled in this study. All patients were detected ETV6/RUNX1 fusion gene by FISH. Clinical data and ETV6/RUNX1 were combined to analyze the clinical prognosis. Results Among the 723 patients, 151 were with ETV6/RUNX1 positive B-ALL, accounting for approximately 20.89%(151/723) of B-precursor cases;91 patients were with recurrence, including 10 patients with ETV6/RUNX1 positive B-ALL, and the recurrence rate of ETV6/RUNX1 positive B-ALL was 10.99%(10/91). Among 10 recurrent patients with ETV6/RUNX1 positive B-ALL, 9 patients relapsed more than 300 days later after diagnosis, while the recurrence times among the patients with ETV6/RUNX1 negative was very different. Although the recurrence times between the two groups showed no signiifcant difference (P?=?0.09), the recurrence times of ETV6/RUNX1 positive patients were mainly found at the end of clinical chemotherapy, while the recurrence time of ETV6/RUNX1 negative patients were mainly at maintaining chemotherapy period, there was a signiifcant difference between the distribution of recurrence time (P?

Most neonatal diabetes mellitus (NDM) is caused by genetic abnormality. Sulfonylurea (SU) has been successfully applied in NDM patients;The pathogenesis of NDM and mechanism of sulfonylurea on molecular level have been illuminated, and recent studies revealed that glycated albumin is a useful glycemic indicator. In this review, the research progress of NDM is summarized.

Primary ciliary dyskinesia (PCD) is an autosomal recessive or x-linked disorder of cilia structure and (or) function, with a morbidity of 1:10 000–1:50 000 from foreign reports, while epidemic data of PCD in China is not available yet. PCD is due to cilia biallelic gene mutations leading to impaired tissue structure and organ function. Clinical phenotypes include chronic infections of the respiratory tract, fertility problems, disorders of organ laterality, etc, and the percent age of Kartagener syndrome is about 50%. The frequently used diagnostic methods are nasal NO examination, high-speed video microscopy, electron microscopy, genetic tests, chest high-resolution computed tomography and spirometry at present. Each method has its highlights and disadvantages, meanwhile, effective diagnostic algorithm and therapeutic protocols are needed for further research.

Objective To investigate the effect of erythropoietin (EPO) on the expression of MMP-2 in hippocampus of neonatal rats after hypoxic-ischemic brain damage (HIBD), and the mechanism of its neuroprotective effect. Methods Neonatal Sprague-Dawley rats of 7 days old were randomly divided into three groups (n?=?48 in each group): sham-operated group, HIBD group and EPO treated group, then each group was further divided into four subgroups (n?=?12) based on different time points following the injection of medication ( 6 h, 24 h, 3 d, 7 d). The expression of MMP-2 in hippocampus was determined by immunohistochemistry and real-time lfuorescent quantitative PCR method. Results Immunohistochemistry: MMP-2 has a small amount of expression in the hippocampus of the sham-operated group, and at each time point, there is no statistically signiifcant difference (P?>?0.05);The expression of MMP-2 in HIBD group and EPO group all show a trend of increase, and peaked at 7 d, the differences between each time point in two groups are statistically signiifcant (P??0.05). Gene expression in HIBD group at 24 h and 7 d points showed twin peaks, and the peak is higher at the 7 d point, but without difference (P?>?0.05). MMP-2 expression of EPO group presents a trend of increase, and differences are signiifcant between each time point (P?