objective To analyze the clinical treatment effect and evaluate the value of the intervention measures by giving nursing intervention to patients with upper digestive tract bleeding caused by hepatocirrhosis. Methods The research object were 100 patients with liver ciirhosis complicated with upper digestive tract bleeding caused by hepatocirrhosis from June 2009 to June 2011.They were randomly divided into the observation group and the control group with 50 patients in each group.The control group was given routine nursing measuress,including admission instruction and health education,based on this,the observation group was given nursing intervention measures,its main measuress including; psychological counseling intervention,behavioral therapy intervention and other comprehensive intervention methods.The nursing effect and incidenee of complications were analyzed between two groups of patients. Results The total effective rate was 98％ in the observation group,higher than 80％ of the control group.The incidence rates of recurrent hemorrhage.,mortality,constipation,hepatic encephalopathy of the observation group was significantly lower than those of the control group. Conclusions Patients with upper digestive tract bleeding caused by hepatecirrhosis showed various clinical symptoms due to many reasons.Nursing intervention can effectively alleviate the clinical symptoms of patients improve the treatment effects,and help them recover soon.It is worthy of clinical popularization and application.

Objective To impmve the method of "modified comet assay" in predicting the radiosensitivitv of solid tumor. Methods A single cell suspension from biopsy sample was lmdlated on ice with a dose of 5 Gy.The microscope slide was spread with agarose,lysed for 50 minutes,rinsed 3 times rinse solution,and given electrophoresis for 20 minutes. After being stained with PI,cell images were collected through the microscope and analyzed with Lucia G software(Version 4.6).In order to check system/ background errors,every sample was made into control slide and irradiation slide.The end-points were cell DNA contents and tail moment. Results The factors influencing the results included:(1)Sample was iaulty tor the biopsv taken from mucosa and no tumor cells were contained. (2)The slides with a high backgmund ( induced by necrosis) disturbed the measurement of comet assay. (3) Setting lymphocytes as control to check svstem errors was very important. (4)To separately collect images of the normal tissue cells and tumor cells from the biopsy sample improved the conformity between the clinical obscrvation and the lab result. Conclusions To increase the correlation between comet assay and clinical response,it is very helpful to set double control for checking system/background errors and to collect images of the normal tissue cells and tumor cells through the microscope,respectively.

OBJECTIVE: Oral zhongfeng an liquid is a new dose form of traditional Chinese medicine for treating cerebrovascular diseases. Its main components are astragalus and hirudo, the former is of obvious effects of replenishing qi and activating blood, and the latter is of stronger effects of antiplatelet, antithrombosis and arteriospasm-reducing, as well as improving tissue anoxia.OBJECTIVE: To investigate the effects of oral zhongfeng an liquid on arterial thrombosis in rats, and blood coagulation and tolerance in mice.DESIGN: A completely randomized and controlled trial.SETTING: Pharmacological Division of Basic Medical College, Hebei Medical University.MATERIALS: The experiment was completed from September 2001 to April 2002 at the Pharmacological Division of Basic Medical College,Hebei Medical University. The experiment of effect of the drug on thrombosis in rats: In the first study, totally 40 Wistar rats were at random divided into five groups: zhongfeng an liquid 3.0, 6.0, 12.0 g/kg, aspirin 0.3 g/kg and control group, with 8 in each group. In the second study, totally 50 Wistar rats were also at random divided into five groups: zhongfeng an liquid 3.0 and 6.0 g/kg, naoxue kang 3.0 and 6.0 g/kg and control group,with 10 in each group. Clotting time study in mice: Totally 50 mice were randomly divided as zhongfeng an liquid 6.0, 12.0, 24.0 g/kg, aspirin 0.3 g/kg and control group, with 10 in each group. Measurement of swimming exhaustion time of mice: Totally 90 mice were randomly divided as zhongfeng an liquid 6.0 and 24.0 g/kg, naoxue kang 6.0 and 24.0 g/kg, benzedrine 0.2 g/kg and control group, with 15 in each group.METHODS: In the experiment of effect of the drug on thrombosis: For the first study, 24 hours and 1 hour before operation the rats in all groups were respectively by gavage given oral zhongfeng an liquid (3, 6, 12 g/kg), aspirin (0.3 g/kg), and water. For the second study, 24 hours and 1 hour before operation the rats were respectively by gavage given oral zhongfeng an liquid (3, 6 g/kg), naoxue kang (3, 6 g/kg) and water. After administration,ketamine 50 mg/kg was peritoneally given for anesthesia, silk ligature thrombosis was used, then the wet thrombus was weighed for comparison of difference in thrombosis among the groups. Measurement of clotting time of mice: The mice were respectively by gavage given oral zhongfeng an liquid (24.0, 12.0, 6.0 g/kg), aspirin (0.3 g/kg) and water, one hour after administration the clotting time of mice was detected with the slide method. Measurement of swimming exhaustion time of mice: The mice were respectively by gavage given oral zhongfeng an liquid (6.0, 24.0 g/kg), naoxue kang (6.0, 24.0 g/kg), Benzedrine (0.2 g/kg) and water, once a day for 5 days.On the fifth day 1 hour after administration, the swimming exhaustion time of mice was measured, the mean value of swimming exhaustion time of mice in each group was calculated.haustion time of mice in each group.RESULTS: All 90 rats and 140 mice involved entered into the result thrombus in rats of the oral zhongfeng an liquid 3.0, 6.0 and 12.0 g/kg groups were obviously lower than those in the naoxue kang groups of the same dose [(24±4), (21±4), (16±6), (39±7) mg, (t=5.88-7.90, P ＜ 0.01)]; in the second study, the wet quality of rats in the oral zhongfeng an liquid 6.0 g/kg group was obviously lower than that in the same dose naoxue kang group [(23.6±2.6), (30.0±4.1), (t=4.18, P ＜ 0.01)], the wet quality of mice in the oral zhongfeng an liquid 3.0 g/kg group was obviously lower than that in the same dose naoxue kang group [(30.6±2.1), (33.1±1.6) mg, (t=2.96,zhongfeng an liquid 24.0 and 12.0 g/kg groups were obviously higher than that in the control group [(222±66), (190±52), (116±26) s, (t=4.02, 4.72, P the oral zhongfeng an liquid 24.0 and 6.0 g/kg groups were obviously higher than that in the control group [(2 512±1 244), (899±403), (502±100) s,(t=3.70-6.24, P ＜ 0.01)].CONCLUSION: Oral zhongfeng an liquid was of obvious inhibition to arterial thrombosis of rats and venous thrombosis of mice, and could enhance the tolerance of mice with a role of antifatigue.

Objective Congenital nephrogenic diabetes insipidus (CNDI) is a rare disease, the aim of this article is to help better understanding of this disease. Methods The clinical features, genetic analysis and treatments of two siblings with CNDI were retrospectively analyzed, and related literatures were reviewed. Results Both brothers had polydispia, polyuria and low concentrate urine continuously, and they both had a mutation in AQP 2 conifrmmed with Sanger sequencing. This novel frame shift mutation caused arginine of 254 to histidine, and prolonged AQP 2 protein. Conclusions Gene analysis can help diagnosis of CNDI. Amiloride is useful option for treatment.

Objective To analyze the genetic changes and detailed clinical presentations of 5 maturity-onset diabetes of the young (MODY) cases in order to enhance the knowledge about MODY in children.Methods Seventy-eight patients initially diagnosed as diabetes mellitus between January 1 and December 31,2015 in Capital Institute of Pediatrics were retrospectively studied.Nine of them were suspected of MODY,and 5 patients were diagnosed as MODY through gene test.Clinical informations were collected including age,gender,main complaint,family history,body mass index (BMI),fasting blood glucose,fasting blood insulin,2-hour blood glucose and insulin after oral glucose tolerance test and glycosylated hemoglobin.The blood glucose was monitored dynamically in 2 patients.Targeted capture panel was designed to capture the 16 genes related to MODY,including 12 genes from MODY1 to MODY13 type and 4 genes with weak evidence of MODY according to Human Gene Mutation Database Exome capture,and Next-Generation sequencing on a HiSeq2000 (Illumina) was performed.After bioinformatics analysis,all prioritized variants detected in patients were validated by Sanger sequencing,including the probands and their parents.Results Five patients were confirmed as MODY by molecular diagnosis,accounting for 6.4％ of all the 78 patients in 2015.The ratio of male to female was 2 ∶ 3.The ages at diagnosis ranged from 2 to 11 years old,and the median age was 3 years old.Two cases were found to have abnormal blood glucose in physical examination.The rest 3 cases were discovered with abnormal blood glucose during hospitalization because of pneumonia (1 case)or diarrhea (2 cases).In 4 cases,their mothers had gestational diabetes history,in 1 case the father suffering from diabetes.BMI ranged 15.68-23.40 kg/m2.Fasting blood glucose was 6.3-7.2 mmol/L.Fasting blood insulin was 0.5-8.0 IU/L.Glucose tolerance test results showed that blood glucose of the patients was 8.6-10.8 mmol/L after 2 hours.The level of glycosylated hemoglobin was 5.5％-6.7％.Blood glucose was 3.9-13.0 mmol/L.All the 5 confirmed patients were caused by GCK gene mutation (MODY2 type).The mutations detected were located at Exon7 (2 cases),Exon4 (1 case),Exon5 (1 case),and Exon10 (1 case).Conclusions All the confirmed MODY patients were identified either through medical exam or infectious disease,and all had positive family history.Their BMI ranged widely.Fasting blood glucose was slightly elevated and glycosylated hemoglobin was normal or slightly elevated,but fasting blood insulin was normal in all the patients.Abnormal glucose tolerance test results were found in all 5 patients.Glycosylated hemoglobin was normal or slightly elevated.MODY2 was the only subtype detected in this group,which indicated that the common type in children was different from that in adults.

Objective A 10-years-old girl with Schimke immuno-osseous dysplasia ( SIOD ) was reported and a literature review presented to provide clinical and genetic information of this rare disease. Methods Retrospective analysis of a case of SIOD in Capital Institute of Pediatrics was reported. The patient and her parents' DNA were extracted from blood for detecting SMARCALl gene mutation. Literatures of the disease were reviewed. Results The patient was a ten-years-old girl who admitted because of slow growth in height for 3 years. Herstaturewas123cm(T(p.Q149X)andc.1933C>T(p.R645C)compound heterozygous mutation. A novel nonsense c.445C>T(p. Q149X)was found. One reported missense mutations c. 1933C>T(p. R645C) was detected. We reviewed literatures and found that there were 4 confirmed cases in China including this one. All the 4 cases had the characteristic of short stature, special facial features, osseous dysplasia, pigmentations in body, and proteinuria. However the severity of the disease and genetic changes are not the same. Conclusion When a patient was admitted because of short stature, diagnosis of SIOD should be suspected if he or she also had special facial feature, osseous dysplasia, café-au-lait spots, and proteinuria. Gene test is a tool to help us to make a definite diagnosis of SIOD.

Objective To report clinical characteristics and genetic results of two sisters suffered from congenital adrenal cortex hyperplasia (17-α-hydroxylase deficiency), and relevant literatures were reviewed. Methods Clinical manifestation and laboratory examination data of two sister cases of 17-α-hydroxylase deficiency enrolled in Capital Institute of Pediatrics in March 2016 were analyzed. Sanger sequencing and MLPA for CYP17A1 genes were performed and the parents' genes were also verified. Results The two patients were four years and 10 years old, both suffered from hypokalemia after infections, and hypergonadotrophin gonad hypofunction. One case was with slightly high blood pressure. Laboratory test results showed potassium fluctuation tendency in 1.9~4.0 mmol/L, 17-OHP and DHEA was decreased. Enhanced CT showed different degree of adrenal gland enlargement. Chromosome examination of the older sister is 46, XY. Both sisters demonstrated heterozygous mutation of CYP17A1 gene. The molecular genetic analysis suggested a c.985_987delTACinsAA from father and a deletion spanning exons 1-7 of the CYP17A1 gene from mother. Conclusion 17-α-hydroxylase enzyme deficiency can be diagnosed before adolescence. Clinical hypokalemia with unknown reason and high blood pressure may indicate the disease. The diagnosis can be confirmed with gene sequencing of CYP17A1.

Objective To analyze the clinical characteristics and mutation of SLC26A3 gene of a patient with congenital chloride diarrhea in order to deepen the understanding of the disease.Methods The clinical data of the patient who was admitted in Affiliated Hospital of Capital Pediatric Institute in June 2014 were collected.Venous blood of the proband and his parents (2 mL for each) had been extracted for genomic DNA isolation.The 21 exons of SLC26A3 gene were amplified with polymerase chain reaction and screened for mutations by sequencing.Results The main clinical features of the patient included polyhydramnios,preterm,normal birth weight,watery diarrhea,low weight and severe electrolyte disturbances with hypochloremia,hypokalemia,hyponatremia and metabolic alkalosis.Renin angiotensin and aldosterone were high.His urine chloride concentration was low and fecal chloride concentration was high (＞ 90mmol/L).After oral salt substitution therapy with KCl and NaCl [3 mmol/(kg · d),4 mmol/(kg · d)],the electrolyte was better,alkalosis was alleviated,and growth and development were improved.The gene analysis revealed that the patient carried nt1631T ＞ A homozygous mutation on exon 15 which lead to Ile544Asn mutation in the predicted SLC26A3 transmembrane protein sequence,which was considered to be responsible for the functional abnormality of the Cl-/HCO3-protein.His parents were carriers of SLC26A3 gene and their clinical phenotype was normal.Conclusions Congenital chloride diarrhea is a rare autosomal recessive disorder and easily misdiagnosed.The patient of early postnatal diarrhea with persistent hypochloremia,hypokalemia,hyponatremia and metabolic alkalosis should be thought about this disease.Genetic analysis can help make the diagnosis.The prognosis is good if a patient has an early diagnosis and appropriate management.

Objective: To investigate the clinical features and genetic characteristics of patients with ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) gene variants. Method: The clinical data of a patient with ENPP1 homozygous variants from Capital Institute of Pediatrics was collected, the related literature was searched from China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform, National Center from Biotechnology Information and PubMed by using search term "ENPP1" , "hypophosphatemic rickets" . The literature retrieval was confined from 1980 to February 2017. The clinical manifestations, bone metabolism examinations, X-RAY and genotypes were reviewed. Result: Our patient was an 11 years old girl, with 7 years history of lower limb malformation. She showed significant valgus deformity of the knee (genu valgum). Metabolic examination revealed reduced level of plasma phosphate (0.86 mmol/L), a normal level of plasma calcium (2.30 mmol/L) and an elevated alkaline phosphatase level of 688 IU/L. The calcium-phosphorus product was 25.9. A homozygous nonsense variants of ENPP1 gene, c.783C>G (p.Tyr261X) in exon 7 was identified in the patient. Both parents were heterozygous carriers. Literature review identified 3 Chinese patients from one publication and 17 cases from twenty one publications around the world. None of the patients was found PHEX variants which is the most common variants among hypophosphatemic rickets patients. The disease onset age was 11 months to 10 years. Eight patients had short stature, five patients had the history of generalized arterial calcification of infancy. Four suffered from deafness, three showed localized calcifications of arteries, three patients manifested pseudoxanthoma elasticum and two suffered from ossification of posterior longitudinal ligament. Nine missense variants, six splicing variants and 4 nonsense variants were reported among these twenty patients. c.783C>G was found in two Chinese patients. Conclusion ENPP1 gene mutation was a cause of patient with hypophosphatemic rickets. Comorbid features included generalized arterial calcification of infancy, early onset hearing loss, pseudoxanthoma and ossification of posterior longitudinal ligament. ENPP1 gene testing should be performed on hypophosphatemic rickets patients without PHEX gene variants. Long-term follow up is recommended. The most common types of ENPP1 gene variants were nonsense/splicing variants. The gene c.783C>G was the most common variants in Chinese patients.

OBJECTIVE: To explore the genetic basis for a child with neonatal severe hyperparathyroidism. METHODS: Genomic DNA was extracted from peripheral blood samples from the patient and her parents. Whole exome sequencing was carried out to screen potential mutations. Suspected mutation was verified by Sanger sequencing. RESULTS: The proband was found to carry compound heterozygous variants c.179G>A (p.Cys60Tyr) and c.1525G>A (p.Gly509Arg) of the CaSR gene. The c.179G>A variant was derived from her mother and was unreported previously. The c.1525G>A variant was derived from her father and known to be pathogenic. CONCLUSION The compound heterozygous variants of c.179G>A and c.1525G>A of the CaSR gene probably underlie the disease in the patient. The results of genetic testing has enabled diagnosis and genetic counseling for her family.
Female ; Genetic Counseling ; Genetic Testing ; Humans ; Hyperparathyroidism/genetics* ; Infant, Newborn ; Infant, Newborn, Diseases/genetics* ; Mutation ; Pedigree ; Receptors, Calcium-Sensing/genetics* ; Whole Exome Sequencing