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Objective:To analyze clinical characteristics and genetic characteristics of children with ATP sensitive potassium passage (K ATP-HI). Methods:Forty-five children with genetically confirmed K ATP-HI and their families admitted to Beijing Children′s Hospital of Capital Medical University between February 2002 and December 2018 were selected as the study subjects. A detailed retrospective analysis of the patient's clinical characteristics, diagnosis and treatment process, disease-causing gene carrying status and later follow-up data was performed. ABCC8/KCNJ11 gene was sequenced by second-generation sequencing technology. Results:Among 45 children with K ATP-HI, 34 cases (75.6%) were neonatal onset, the first symptoms of 21 cases (46.7%) were convulsions. 39 cases had been treated with diazoxide, including 12 cases (30.8%) with good efficacy, 16 cases (41%) with poor efficacy and 11 cases with uncertain efficacy. Octreotide was further applied in 18 patients with uncertain or ineffective efficacy after diazoxide treatment, and 13 cases (72.2%) were effective, 3 cases were ineffective, and 2 cases were uncertain. 10 CHI patients who were ineffective to drug treatment or had clearly focal lesions confirmed by 18F-dopa positron emission by computed tomography ( 18F-DOPA PET) scans had undergone surgical treatment, 8 of which underwent partial pancreatectomy and blood glucose returned to normal after the operation; the other 2 cases underwent subtotal pancreatectomy and both had secondary diabetes after operation. Among 45 children with K ATP-HI, 1 case carried both ABCC8 and KCNJ11 mutations, 10 cases carried ABCC8 compound heterozygous mutations, and the remaining 34 cases carried ABCC8/KCNJ11 single genetic mutation. Among them, 21 cases had paternal inheritance, and 3 cases had maternal inheritance, 6 cases were identified with de novo mutations. Conclusions:Diazoxide treatment was ineffective for most K ATP-HI children, but octreotide had a higher effective rate. Partial pancreatectomy for focal type patients had a higher cure rate, and there was a risk of secondary diabetes after subproximal pancreatectomy, so it was very important to clarify the histological type of children before surgery. ABCC8 gene mutations and KCNJ11 gene mutations were the main pathogenic genes of K ATP-HI. Among patients carrying mutations in single ABCC8 or KCNJ11 gene mutation, K ATP-HI inherited by paternity were the majority. Some K ATP-HI children can relieve the hypoglycemia symptoms by themselves.
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【Objective】 To investigate the epidemiology of HTLV by conducting HTLV nucleic acid detection among voluntary blood donors, so as to provide basis for the decision making of blood screening strategy. 【Methods】 The HTLV blood nucleic acid(NAT) screening platform was established based on the existing NAT for HBV / HCV / HIV screening. HTLV (type 1 + 2) detection was carried out in 5 368 blood donors, and the results were analyzed. 【Results】 No NAT-yielding of HTLV- 1, -2 type was found in a total of 5 368 voluntary blood donor from January to August 2019. 【Conclusion】 Qianxinan, currently, is very low epidemic or non epidemic as none of HTLV infections was found among blood donors and no significant differences in the epidemiology of HTLV were notable between the counties and cities. It, however, still needs further investigation in the future.
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Objective:To analyze the clinical features and genetic characteristics of Chinese children with glutamate dehydrogenase type of congenital hyperinsulinism (GDH-HI).Methods:Pedigrees with 10 GDH-HI children admitted to Beijing Children′s Hospital from February 2008 to December 2018 were selected as subjects. Clinical features, the detection of pathogenic genes and follow-up data were retrospectively analyzed. Polymerase chain reaction DNA (PCR-DNA) direct sequencing method and second generation sequencing technique were used to analyze the GLUD1 genetic sequences of 10 GDH-HI children and their relatives.Results:Of the 10 GDH-HI children, 9 had normal birth weight and 1 was a giant. Nine patients were accompanied by asymptomatic hyperammonemia, and one had normal blood ammonia. 9 had ever been treated with diazoxide, which was all effective. All 10 children carried GLUD1 gene mutations, 5 patients carried c. 965C>T (p.R322H) GLUD1 gene mutation, and the remaining 5 cases carried c. 1388A>T (p.N463I), c. 1495C>A(p.G499C), c. 1493C>T(p. S498L), c. 1519G>A(p.H507Y) and c. 1388A>G(p.N463S), respectively. 9 cases (90%) had de novo mutations, and 1 case had paternal autosomal dominant inheritance. 8 children were followed up in long term. One child had spontaneous remission in 8 years after being diagnosed, and seven patients required long-term oral diazoxide to maintain normal blood glucose levels, two of whom had epilepsy.Conclusions:The birth weight of children with GDH-HI in China was usually normal. A small number of GDH-HI children had normal serum ammonia levels. Most of the GLUD1 gene mutations in GDH-HI children in China were de novo mutations, among which the GDH p. R322H mutation was a hot spot mutation in Chinese children with GDH-HI. Most of GDH-HI children were diazoxide-responsive. As the disease progresses, some children may have epilepsy, and a few children have a tendency to relieve by themselves.
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Objective@#To analyze the clinical features and genetic characteristics of Chinese children with glutamate dehydrogenase type of congenital hyperinsulinism (GDH-HI).@*Methods@#Pedigrees with 10 GDH-HI children admitted to Beijing Children′s Hospital from February 2008 to December 2018 were selected as subjects. Clinical features, the detection of pathogenic genes and follow-up data were retrospectively analyzed. Polymerase chain reaction DNA (PCR-DNA) direct sequencing method and second generation sequencing technique were used to analyze the GLUD1 genetic sequences of 10 GDH-HI children and their relatives.@*Results@#Of the 10 GDH-HI children, 9 had normal birth weight and 1 was a giant. Nine patients were accompanied by asymptomatic hyperammonemia, and one had normal blood ammonia. 9 had ever been treated with diazoxide, which was all effective. All 10 children carried GLUD1 gene mutations, 5 patients carried c. 965C>T (p.R322H) GLUD1 gene mutation, and the remaining 5 cases carried c. 1388A>T (p.N463I), c. 1495C>A(p.G499C), c. 1493C>T(p. S498L), c. 1519G>A(p.H507Y) and c. 1388A>G(p.N463S), respectively. 9 cases (90%) had de novo mutations, and 1 case had paternal autosomal dominant inheritance. 8 children were followed up in long term. One child had spontaneous remission in 8 years after being diagnosed, and seven patients required long-term oral diazoxide to maintain normal blood glucose levels, two of whom had epilepsy.@*Conclusions@#The birth weight of children with GDH-HI in China was usually normal. A small number of GDH-HI children had normal serum ammonia levels. Most of the GLUD1 gene mutations in GDH-HI children in China were de novo mutations, among which the GDH p. R322H mutation was a hot spot mutation in Chinese children with GDH-HI. Most of GDH-HI children were diazoxide-responsive. As the disease progresses, some children may have epilepsy, and a few children have a tendency to relieve by themselves.
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Jingui Yaolue is a part ofTreatise on Cold-Attack and Miscellaneous Diseases. Because of the archaic words, students lost the interest on it. So it became the questions that how to make students interested in learning theJingui Yaolue and to make traditional Chinese medicine(TCM) classical guide clinical treatment. Thus, a try has been made to teach the TCM classic in the clinical practice apprentice setting rather than the classrooms. Here, some experiences about apprentice teaching in clinical practice of Jingui Yaolue were shared.
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OBJECTIVE:To systematically review the efficacy of Duhuo jisheng decoction combined with chemical medicines in the treatment of ankylosing spondylitis (AS),and to provide reference for clinical treatment. METHODS:Retrieved from CBM,CJFD,VIP,Wanfang Database,PubMed and EMBase,randomized controlled trials(RCT)about Duhuo jisheng decoction combined with chemical medicines(test group)versus chemical medicines alone(control group)in the treatment of AS were col-lected,Meta-analysis was performed by using Rev Man 5.3 software after data extraction and quality evaluation. RESULTS:Total-ly 6 RCTs were included,involving 382 patients. Results of Meta-analysis showed,the total effective rate [RR=1.35,95%CI(1.20, 1.52),P<0.001],improvement rate of TCM symptoms [RR=1.31,95%CI(1.09,1.57),P=0.004)in test group were significantly higher than control group,and CRP level was lower than contxol group[MD=-6.18,95%CI(-8.49,-3.87),P<0.001],the dif-ference was statistically significant. CONCLUSIONS:Duhuo jisheng decoction combined with chemical medicines shows better effi-cacy than chemical medicines alone,it can improve the TCM symptoms and decrease the CRP level.
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Objective To screen the mutation of KATP channel mutations in Chinese pedigrees with infantile onset type 1 diabetes mellitus (T1DM) and neonatal diabetes mellitus.Methods A cohort of 12 children of infant onset T1DM and neonatal diabetes mellitus admitted into Beijing Children's Hospital between March 2004 and June 2013 were selected.PCR amplification and direct sequencing were used to analyze the 39 exons of ABCC8 gene and one exon of KCNJ11.And the mutational sites of the parents of the probands was sequenced in order to identify the inheritance.Results Analysis revealed ABCC8 mutation in 25％ (3/12 cases) of the patients,a case of transient neonatal diabetes (TNDM),a case of permanent neonatal diabetes mellitus (PNDM) and a case of infant onset T1DM.All positive patients showed a known heterozygosis mutation in the ABCC8 gene(R1182Q,c.3545G ＞ A,D209E,c.627C ＞ G,E208K c.622G ＞ A).The residue R1182Q,which was located at a position involved in joining transmembrane domain 2 to nucleotide binding domain 2,the mutations E208K and D209E were located in the intracellular region that links the transmembrane domain with the gatekeeper module.All the three mutations were located throughout the cytoplasm part of SUR1 protein.The TNDM successfully transferred from insulin to oral sulfonylureas therapy.Conclusions There is a complex genetic pathogenesis in neonatal and infant-onset diabetes.The KATP channel activating mutations is one of the main causes of neonatal diabetes mellitus and may cause T1DM in infants in China.Oral Glibenclamide therapy seems highly effective for some patients with the KATP channel activating mutations.
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Objective To analyze the clinical characteristics of children's Pseudo-Bartter syndrome(PBS) in order to enhance physician's understanding of the disease.Methods Nine children with PBS who were admitted into Beijing Children's Hospital from Nov.2008 to Sep.2013 were selected as research subjects.A retrospective study was carried out with the clinical data and the outcome of treatment.Results 1.Clinical characteristics:there were 9 cases in this group including 5 male and 4 female.The patients' age ranged from 4 months to 8 years 8 months.The most common cause of children's PBS was gastrointestinal symptoms(such as diarrhea and vomiting) induced by respiratory tract infection (7/9 cases).Six patients had no striking clinical manifestations,and hypokalemia was found in the treatment of primary disease.2.Laboratory tests:All of the children in this group had hypokalemia and metabolic alkalosis in varying degrees.The activation of renin,angiotensin and aldosterone system increased.3.Therapy:all children were treated by giving potassium supplemental treatment or indomethacin therapy [1 mg/(kg · d),3 times orally].After treatment,all cases achieved clinical improvement and normal blood electrolytes.All patients' blood electrolytes remained normal for 5 to 7 days after stopping treatment.Conclusions 1.In China,the most common cause of children's PBS is gastrointestinal symptoms(such as diarrhea and vomiting) induced by respiratory tract infection.2.Except for clinical manifestations related to causes,patients have no significant clinical manifestations.Hypokalemia can be found in the treatment of primary disease.3.The biochemical results show low blood potassium chloride with metabolic alkalosis.In PBS renin,angiotensin and aldosterone concentration in blood are all elevated.4.Treatment of children's PBS mainly includes etiological treatment and electrolyte supplement therapy.The treatment effectiveness is good after etiological treatment and potassium supplement treatment.In the condition of controlling etiology and potassium supplementation,electrolytes mas return to normal in 2-4 days.