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This paper aims to push health scientific popular knowledge and carry out targeted patient health education for certain patients, based on the demand of health education for specific diseases and population. Taking the female climacteric health scientific popularization as an example, the authors summarized the practice of popularizing scientific education in a tertiary specialized hospital based on the cognitive level and health education needs of outpatients and the general public. A multidisciplinary health scientific popularization team was set up to communicate popular science knowledge to patients and other menopausal women in need through multi-channel and multi-platform forms. Such means include online ones, offline ones, and cooperation with various social organizations. The implementation of health scientific popularization mode meets the needs of patients and the general public. The implementation of this mode of health popularization could improve their self-health management ability and health accomplishment. It provides a good reference for public hospitals to carry out health science popularization.
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OBJECTIVE@#To explore the genetic basis for a girl featuring bone and tooth mineralization disorder, premature deciduous teeth, rickets and short stature.@*METHODS@#Genomic DNA was extracted and subjected to high-throughput whole exome sequencing. Suspected variants were confirmed by Sanger sequencing. Impact of potential variants was analyzed with bioinformatic software.@*RESULTS@#The child was found to carry compound heterozygous missense variants of the ALPL gene, including c.1130C>T (p.A377V), a known pathogenic mutation inherited from her father, and c.1300G>A (p.V434M) inherited from her mother, which was unreported previously and predicted to be likely pathogenic based on standards and guidelines from the American College of Medical Genetics and Genomics (PM2+PM5+PP3+PP4).@*CONCLUSION@#The compound heterozygous variants of c.1130C>T (p.Ala377Val) and c.1300G>A (p.Val434Met) of the ALPL gene probably underlay the disease in this child. Above finding has enriched the spectrum of ALPL gene variants.
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Child , Female , Humans , Alkaline Phosphatase , Genomics , High-Throughput Nucleotide Sequencing , Hypophosphatasia/genetics , Mutation , Exome SequencingABSTRACT
OBJECTIVE@#To identify pathogenic mutation in a pedigree affected with brachydactyly and obesity.@*METHODS@#Peripheral blood sample was collected for extraction of genomic DNA. Exons capture combined with next generation sequencing (NGS) was carried out to identify potential mutation. Sanger sequencing was used to verify the results.@*RESULTS@#NGS has identified a novel heterozygous missense mutation (c.125A>C, p.Gln42Pro) in the exon 1 of PTHLH gene. The result was verified by Sanger sequencing. The mutations was derived from his mother. His uncle and sister have also carried the same heterozygous mutation.@*CONCLUSION@#A novel mutation of the PTHLH gene has been identified in a pedigree affected with brachydactyly type E2 and obesity.
Subject(s)
Humans , Brachydactyly , DNA Mutational Analysis , Mutation , Obesity , PedigreeABSTRACT
Objective The present study aims to establish a professional knowledge structure for the family planning technical team at the current stage in Zhejiang Province so as to meet the needs of training and offer reference evidences for specific and effective training. Methods This study applied a stratified cluster sampling method to carry out a self-administered questionnaire which was anonymous and including general survey, the situation of training, as well as the professional skill structure. This questionnaire was designed through the method of literature review and based on the actual situation of the operation. It col-lected the information from 365 family planning technical staffs who were from different levels of plan family service agencies in four cities, which were Hangzhou, Jiaxing, Taizhou, Wenzhou, respectively, from April to June in 2016. Epidata 3.0 software was utilized to record the data and the data was analyzed using SPSS version 20.0. Subsequently, the relationship between the mastery of professional skill and demographic characteristics was researched by students' t test and one-way analysis of variance (ANOVA) test. Results The education background, major and the professional title structure of the family planning technical staffs varied among different areas. At present, it seems that most of the family planning technical staffs have an aspiration to attend training and 97.53% of them wanted to get professional knowledge through training. The result was not satisfactory when surveyed 298 staff for the mastery of knowledge and skills: 3.66% (9/246) for pelvic floor rehabilitation training, 7.42% (19/256) for genetic counseling, 4.9% (12/245) for prena-tal screening, 5.26% (13/247) for screening and prevention of common breast diseases and 6.22% (15/241) for infertility treatment. There was a significant difference (P=0.000) among the different levels of plan family service agency, education background, major, occupation type and professional title in the mastery of professional knowledge and skill. Conclusion It is necessary to improve the training plan and conduct clas-sification and layering training since the knowledge and skills of family planning technical personnel can not meet the needs of reproductive health services at the new period.
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Gitelman's syndrome (GS) is an autosomal recessive hereditary tubulopathy.It is caused by sodium reabsorption in the distal convoluted tubule of the renal unit,which is not yet fully cured.It is characterized by great heterogeneity with clinical manifestations.Some patients with no symptoms,were confirmed by hypokalemia with physical examination.The others can be manifested as fatigue,nocturia,polydipsia and hypotension.Less literature is reported about GS combined with osteoarthrosis.In this report,the author reported a patient of GS with osteoarthrosis characterized by hypokalemia,hypomagnesemia,metabolic alkalosis,lower blood pressure,and swelling and pain in left knee joint.The symptoms were improved after treatment with potassium and magnesium supplementation
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Objective To study the diagnostic significance and clinical value of genetic analysis in children with neonatal diabetes. Methods Gene mutation analysis was performed in four patients from Zhengzhou children ' s hospital with diagnosis of with neonatal diabetes. Therapeutic effect of glibenclamide in patients with or without gene mutation was compared. Results KCNJ11 gene mutation was found in two patients with neonatal diabetes. Glibenclamide was found only effective for blood glucose control in patients with KCNJ11 mutation. Therefore, Insulin remains the best therapeutic choice in patients without the genetic mutation. Conclusions Genetic mutation status may be useful in choosing treatment options of neonatal diabetic patients, therefore, should be performed in all children with neonatal diabetes.
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Objective To investigate the effect of gastrointestinal Roux-en-Y gastric bypass surgery on blood sugar and insulin function of patients with type-2 diabetes mellitus.Methods Twenty-seven cases of gastric cancer patients with type-2 diabetes and undergone Roux-en-Y bypass the gastrointestinal treatment in the centre hospital of Cangzhou were selected as our subject.Body mass index (BMI),Glycosylated hemoglobin (HBA1c),Fasting and glucose (FPG),fasting insulin (FINS),Fasting C-peptide (FCP) levels were measured.Glucose (2 hPG),insulin (2 hINS) and C-peptide (2 hCP) levels were detected after 2 h for oral use 75 g glucose.Homeostasis model was applied to assess insulin resistance index (HOMA-IR).Results No significant change was seen in terms of BMI between before and after surgery.Compared to before surgery,the levels of FPG((7.58 ±0.84) mmol/L),2 hPG((10.43 ± 1.88) mmol/L),HbA1c((7.56 ± 1.15)％) and HOMA-IR(4.55 ±0.76) were lower in patients at 3 months after surgery ((9.93 ± 1.57) mtmol/L,(13.89± 2.13) mtmol/L,(9.88 ± 1.66) ％,(4.55 ± 0.76),respectively,P ＜ 0.05 or P ＜ 0.01).FPG ((6.56± 0.80) mmol/L),2 hPG ((8.57 ± 1.32) mmol/L),HbA1 c ((6.37 ± 1.24) ％),HOMA-IR (4.03 ± 0.45)of patients after 6 months were lower than that of before surgery and 3 months after surgery (P ＜ 0.05 or P＜0.01).However,the levels of FINS ((13.67 ± 1.96) mU/L),FCP((2.62 ±0.87) μg/L),2 hINS((49.91± 5.14) mU/L) and 2 hCP ((6.28 ± 1.65) μg/L) were higher in patients with 3 months after surgery compared to that of before surgery ((11.08 ± 1.69) mU/L,(1.78 ± 0.61) μg/L,(36.05 ± 4.03) mU/L,(4.28 ± 1.48) μg/L,P ＜ 0.01).Meanwhile those indices after 6 months (FINS:(15.88 ± 2.05) mU/L,FCP:(3.30 ±0.68) μg/L,2 hINS:(67.40 ±5.68) mU/L,2 hCP:(9.39 ± 1.52) μg/L) were higher than that of before surgery and 3 months after surgery(P ＜ 0.01).Conclusion Roux-en-Y gastrointestinal bypass can effectively reduce blood sugar level and improve the situation of Pancreatic Beta-cell function of gastric cancer patients with type-2 diabetes.
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The incidence of macrosomia was increasing year by year, which may be associated with gestational diabetes, obesity and pregnancy weight gain. The study showed that macrosomia was prone to obesity in childhood, and diabetes, hypertension and cardiovascu-lar disease in adulthood. The growth and development status of macrosomia in childhood is worthy of attention.
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Objective To explore metabolic characteristics of and risk factors for newly diagnosed type 2 diabetes mellitus(T2DM) combined with non-alcoholic fatty liver disease (NAFLD).Methods One hundred and forty-two cases of newly diagnosed T2DM were divided into two groups according to whether they have comorbid NAFLD:group A (without NAFLD,n =79) and group B (combined with NAFLD,n =63).Data collected included body height,body weight,blood pressure,fasting plasma glucose (FPG),blood lipid,serum uric acid (UA),HbA1c and fasting insulin,body mass index and insulin resistance index with homeostasis model(HOMA-IR) were calculated to compare the clinical and biochemical parameters between groups A and B.Results (1) The difference of age and blood pressure between groups A and B were not statistical different (P ＞ 0.05).Compared with group A,BMI ((26.79 ± 1.93) kg/m2 vs (24.61 ± 2.46) kg/m2,t =5.76),FINS((15.49±2.44) mU/L vs (13.20±2.17) mU/L),t =5.91),HOMA-IR((6.74± 1.32) vs (5.65 ±1.10),t =5.37),glycerin trimyristate (TG) ((2.94 ± 0.65) mmol/L vs (1.74 ± 0.46) mmol/L),t =12.86),low density lipoprotein cholesterin (LDL-C) ((3.46 ±0.73) mmol/L vs (2.78 ±0.86) mmol/L,t =5.07) and UA((342.41 ±71.49) mmol/L vs (312.98 ±66.24) mmol/L,t =2.54) were significantly higherand hight density lipoprotein cholesterin (HDL-C) ((0.99 ± 0.17) mmol/L vs (1.21 ± 0.29) mmol/L,t =5.33) was significantly lower in group B (P ＜ 0.05).(2) Using whether to combined with NAFLD as dependent variable,and BMI,FINS,HOMA-IR,TG,LDL-C,HDL-C and UA as independent variable,logistics regression analysis showed that BMI,HOMA-IR and TG were risk factors for NAFLD(OR =2.838,19.241,and 2.019 respectively,P ＜ 0.05).Conclusion Newly diagnosed type 2 diabetes mellitus combined with NAFLD have more obvious dyslipidemia and insulin resistance.Obesity,insulin resistance,hyper-triglyceridemia are risk factors for newly diagnosed type 2 diabetes mellitus combined with NAFLD.