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OBJECTIVE@#To analyze the clinical phenotype and genetic etiology for a child featuring congenital hypothyroidism (CH).@*METHODS@#Whole exome sequencing (WES), copy number variation (CNV) sequencing and chromosomal microarray analysis (CMA) were carried out for a newborn infant who had presented at Linyi People's Hospital for CH. Clinical data of the child was analyzed, in addition with a literature review.@*RESULTS@#The main characteristics of the newborn infant had included peculiar face, vulvar edema, hypotonia, psychomotor retardation, recurrent respiratory tract infection with laryngeal wheezing and feeding difficulties. Laboratory test indicated hypothyroidism. WES suggested a CNV deletion on chromosome 14q12q13. CMA further confirmed a 4.12 Mb deletion at chromosome 14q12q13.3 (32649595_36769800), which has encompassed 22 genes including NKX2-1, the pathogenic gene for CH. The same deletion was found in neither of her parents.@*CONCLUSION@#Through the analysis of clinical phenotype and genetic variant, the child was diagnosed with 14q12q13.3 microdeletion syndrome.
Subject(s)
Female , Humans , Congenital Hypothyroidism/genetics , DNA Copy Number Variations , Phenotype , Syndrome , Microarray AnalysisABSTRACT
Objective:To evaluate the effect of hierarchical diagnosis and treatment model of childhood bronchial asthma in Shanghai Pudong New Area.Methods:According to the principle of proximity, children aged 6 months-17 years who were diagnosed with bronchial asthma at Shanghai Children′s Medical Center from July 2016 to May 2017 were divided into two cohorts: the specialized hospital group and the community hospital group.Twelve months of treatment and follow-up were conducted.The asthma control level, Childhood Asthma Control Test (C-ACT) score, medication adherence and health economic indicators were collected.Results:A total of 524 children were included for data analysis and divided into the specialized hospital group (300 cases) and the community hospital group (224 cases). According to the Global Initiative for Asthma(GINA) criteria, there was no statistical difference in monthly asthma control level between the two groups (all P>0.05). In the 12 th month, the well-controlled rate of the specialized hospital group increased by 12.4% ( P<0.01), and that of the community hospital group increased by 22.9% ( P= 0.015). According to the C-ACT criteria, there was no statistical difference in the monthly well-controlled rate between the two groups (all P>0.05), and the rate maintained an upward trend.The rates of patients with good compliance in the specialized hospital group and the community hospital group at the 12 th month of hierarchical diagnosis and treatment were 78.3%(235/300 cases) and 75.0%(168/224 cases), respectively, and the difference was not statistically significant ( P=0.370). After 12 months of hierarchical diagnosis and treatment, the number of asthma attacks were 1.0 and 2.0 ( P=0.269), and the hospitalization rates for asthma were 3.0%(9/300 cases) and 4.9%(11/224 cases), respectively in the specialized hospital group and the community hospital group, and the diffe-rence was not statistically significant ( P=0.259); the number of respiratory infections in the specialized hospital group (2.0 times) was lower than that in the community hospital group (3.0 times), and the total cost of treatment in the community hospital group (2 471.5 Yuan) was lower than that in the specialized hospital group (3 445.5 Yuan), and the difference was statistically significant ( Z=-3.308, -3.336, all P<0.01). Twelve months after hierarchical diagnosis and treatment, the number of asthma attacks, the number of respiratory infections and the hospitalization rate for asthma in the two groups were all lower than those in the first 12 months of hierarchical diagnosis and treatment, and the difference was statistically significant (all P<0.01). Conclusions:Hierarchical diagnosis and treatment model of childhood asthma in Shanghai Pudong New Area can improve asthma control level, C-ACT score and asthma medication adherence, and enhance health economic benefits, thus it′s an effective way to manage childhood asthma.
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X-linked agammaglobulinemia (XLA) is one of the most common types of primary immunodeficiency disease in children,and is an antibody deficiency disease which is seen in men.Most XLA patients carry mutations in Bruton tyrosine kinase (BTK) gene,they typically present with very low numbers of peripheral B cells and a profound deficiency of all immunoglobulin isotypes.XLA is characterized by recurrent bacterial infections within 2 years,sometimes life-threatening.The prognosis of XLA has been improved by the treatment of gammaglobulin that allow normal concentrations of serum IgG.
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Alpha-1-antitrypsin deficiency (AATD) is a rare genetic metabolic disease,characterized by a lack of alpha-1-antitrypsin,which can lead to chronic lung and liver disease.The lung disease is thought to be caused primarily by a lack of effective protection against the harmful effects of elastase due to the low AAT levels in the lung.Patients may also develop liver disease due to polymerisation of AAT within hepatocytes.Measuring the AAT serum level,AAT protein phenotyping,and SERPINA1 allele genotyping can help to diagnose AATD.The prognosis of AATD has been improved by AAT augmentation therapy in patients with lung disease,which can prevent or delay lung tissue destruction.
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Objective To assess the efficiency and safety of the bronchoscopic CO2cryotherapy to remove bronchial foreign body in children. Methods From Oct 2012 to Dec 2016, 8 cases diagnosed with the presence of bronchial foreign body were undergone the treatment with the bronchoscopic CO2cryotherapy. The clinical data about the efficiency and complication were collected and retrospectively analyzed. Results In the 8 cases, we successfully removed the bronchial foreign bodies without complications. In 2 cases, the foreign bodies were removed successfully, but cryotherapy partially damaged the airway mucosa, causing topical airway obstruction because of the newly developed granulation tissue. No serious adverse reactions or complications were observed after the treatment. Conclusions Removal of bronchial foreign bodies using bronchoscopic CO2 cryotherapy is an easy and effective method which can be used as a supplementary procedure for the bronchoscopic removal of foreign bodies in children's airways.
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Objective To study the effect of genetic polymorphism of leukotriene C4 synthase (LTC4S) and 5-lipoxy-genase (ALOX5) on efifcacy of leukotriene receptor antagonist (LTRA) in children with moderate persistent asthma. Methods Seventy-two children with moderate persistent asthma who visited the out-patient clinic of Shanghai Children’s Medical. Center from June 2011 to June 2013 were divided into two groups, each of which ifrst had ICS or LTRA+ICS for twelve weeks and then had the other for another twelve weeks. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to assess the genetic polymorphism of LTC4S RS730012 and ALOX5 RS2115819. Pulmonary function, clinical symptoms and C-ACT score were evaluated before and after treatment. Results After the treatment with LTRA, 75%forced expiratory lfow (FEF75) was improved more signiifcantly in patients with A/C or C/C genotype at LTC4S (RS730012) locus than in patients with A/A genotype. After the treatment with LTRA+ICS, there was no difference of pulmonary function among patients with different genotypes at ALOX5 (RS2115819). Conclusions The SNP of LTC4S (RS730012) is associated with the efifcacy of montelukast in asthmatic patients because of the improvement of small airway function.