Mutation spectrum and clinical features of congenital long QT syndrome in 20 children: a single center study / 中华实用儿科临床杂志

Objective:To explore the pathogenic genes, clinical characteristics and treatment follow-up of children with congenital long QT syndrome (LQTS).Methods:Clinical data of 20 cases diagnosed with congenital LQTS and underwent gene testing from April 15, 2011 to April 15, 2021 in Department of Pediatric Cardiology, Shandong Provincial Hospital Affiliated to Shandong University were retrospectively collected and analyzed using independent sample t-test and Fisher′ s exact probability method. Results:LQTS-related gene mutations were detected in all the 20 cases, and pathogenic or suspected pathogenic mutations were identified in 18 cases (90.0%). Five LQTS mutation genes were discovered, including KCNQ1, KCNH2, SCN5A, CACNA1C and AKAP9.Eighteen cases (90.0%) had positive symptoms, and 13 cases (65.0%) had definite inducements.The inducement of symptoms in children with LQTS type 1(LQT1) was related to exercise, the causes of syncope in LQT1 and Jervell-Lange-Nielsen syndrome type 1 (JLNS1) with complex heterozygous mutations were exercise or emotional agitation; the causes of syncope in LQTS type 2 (LQT2) were unrelated to exercise; severe exercise in LQTS type 3 (LQT3) resulted in symptoms; and seizure in LQTS type 8 (LQT8) was non-induced.The corrected QT(QTc) interval of 20 cases was (553.1±66.6) ms, with a range of 460-707 ms, among which 17 cases showed QTc≥480 ms.The electrocardiogram(ECG) manifestations of children with various types of LQTS were different.There was no significant difference in QTc between different genders, or between children with syncope and those without syncope (all P>0.05). The follow-up time was (3.4±2.3) years, ranging from 0 to 8.3 years.Seventeen children received treatment[beta blockers and implantable cardiovertor-defibrillator(ICD)] and 3 cases did not.By the end of the follow-up, 1 child died, 19 cases survived, and 2 cases of the surviving children lost consciousness. Conclusions:There is a high consistency between genetic diagnosis and clinical diagnosis of congenital LQTS.The positive rate of gene detection is 90.0%.The clinical manifestations and ECG characteristics vary with genotypes.Beta blockers are protective.ICD therapy can prevent sudden cardiac death when oral medication does not respond.

Survey on the knowledge and willingness of genetic counseling and testing in blood relatives of breast cancer patients / 复旦学报（医学版）

Objective To investigate the knowledge and willingness of genetic counseling and testing in blood relatives of breast cancer patients.Methods A total of 922 blood relatives of breast cancer patients finished our questionnaire.Data were devided into different groups according to age,family history of tumor for statistical analysis.Results Most of the respondents were unaware of genetic counseling and genetic testing.However,after a brief introduction,major of them were willing to accept genetic counseling,breast cancer risk evaluation and screening.Specifically,79.8％ of them were willing to accept genetic counseling,and 62.3％ were willing to accept genetic testing.Most of the respondents would accept inexpensive early genetic screening.For the genetic testing with higher prices,only 37.9％ of them would accept it.Supposing a positive genetic testing result,most of them were willing to perform prevention through close follow-upscreening,31.3％ of them would choose prophylactic surgery or drugs.Despite being told the confidentiality of the test results,32.9％ of them worried about the adverse effects of genetic test.Conclusions Most of the blood relatives of breast cancer patients were unaware of counseling and genetic testing,but had apparent willingness to accept them.Misunderstanding of genetic characteristics,costs and concerning about discrimination are obstacles for the respondents to accept genetic counseling,genetic testing and related screening prevention.

Knowledge and willingness of breast cancer patients from Shanghai for genetic counseling and gene testing / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the knowledge and willingness of breast cancers patients from Shanghai for genetic counseling and gene testing.</p><p><b>METHODS</b>A total of 428 patients filled out the questionnaire and the data was statistically analyzed.</p><p><b>RESULTS</b>Most of the patients were unaware of genetic counseling and gene testing. But after a brief introduction, a majority of them were willing to accept genetic counseling and recommend their family members to participate. The willingness was education- and age-related. When told that gene testing may benefit themselves, 92.1% of the patients were willing to be tested. However, when told that gene testing may only benefit their family, only 33.9% of the patients were willing to join the testing. The acceptance was also age-, education- and family income-related. The difference was statistically significant. Moreover, the willingness ratio to participate the gene testing was lower than expected. Overall, 74.1% of the patients were willing to accept cheaper preliminary gene screening, whilst only 19.2% were willing to accept genetic testing of higher price. Despite of being told that testing results will be maintained as confidential, still 43.2% worried about adverse effects. Such patients tended to younger, from low-income families, with a family history of associated cancers, or personal history of other cancers. The difference was statistically significant.</p><p><b>CONCLUSION</b>The majorities of patients do not know but are willing to accept genetic counseling and gene testing and recommend their family to participate. Lack of genetic knowledge, cost for the testing and concerns about discrimination are the obstacles for patients to participate in genetic counseling and gene testing. To spread the knowledge about breast cancer and establish a follow-up screening system for high-risk population may improve the tertiary prevention for breast cancer.</p>

Study on the relationship between prenatal monitoring index in intrahepatic cholestasis of pregnancy and perinatal prognosis / 中华流行病学杂志

Objective To investigate the association between prenatal monitoring index in intrahepatic cholestasis of pregnancy and the perinatal prognosis,as well as the characteristics of perinatal situations.Methods A retrospective study on the clinical data of 88 cases intrahepatic cholestasis of pregnancy and prognosis that were treated in our hospital from Jan.2011 to Jan.2014 was carried out.Relationship between prenatal monitoring index in intrahepatic cholestasis of pregnancy and perinatal prognosis,together with the epidemiological features of infants were analyzed.Results The incidence rates of perinatal meconium stained amniotic fluid,asphyxia neonatorum,premature and fetal distress were significantly higher in the study group than those in the controls,with differences statistically significant (P＜0.05).The levels of CG,ALT,AST,TBIL,DBIL and TBA in puerperant with bad perinatal situation were significantly higher than puerperant with good perinatal situation,with the difference statistically significant (P＜0.05).Results from the multiple regression analysis indicated that close relations did exist between CG,ALT,AST,TBIL,TBA and adverse perinatal prognosis.The main perinatal risks were related to meconium stained amniotic fluid (33.3％),prematurity (28.6％),fetal distress (20.6％),asphyxia neonatorum (15.9％) and stillbirth (1.6％).Conclusion The rate of adverse perinatal prognosis was low in intrahepatic cholestasis of pregnancy,with most frequently seen as meconium stained amniotic fluid.It was necessary to monitor the level of prenatal CG,ALT,AST,TBIL and TBA in puerperant in predicting the perinatal prognosis.

Association between levels of serum leptin and insulin resistance in patients with polycystic ovary syndrome / 中华流行病学杂志

Objective To analyze the level of serum leptin and its relations with insulin resistance in patients with polycystic ovary syndrome (PCOS) so as to investigate the clinical effect of aciesis in PCOS under treatment of metformin.Methods 86 cases with PCOS (observation group) and 100 non-PCOS women (as controls) were chosen as the objects for the study.Body mass index (BMI),serum leptin,fasting blood glucose,insulin and IR index were measured and the relativity analyzed.PCOS patients were randomly divided into group A and group B,with clinical effect of metformin observed.Results Both serum leptin and insulin levels and the IR index in observation group were significantly higher than those in the control group (P＜0.001).In the PCOS group,leptin levels in patients with insulin resistance was significantly higher than that in patients who were without (P＜0.001).The leptin levels were positive correlated to BMI,insulin and IR index (P＜ 0.05),but not to fasting plasma glucose (P＞0.05).The rate of ovulation was 58.1％ in group B,much higher than that in group A 27.9％ (P＜0.05).The rate of pregnancy as 25.6％ in group B was also much higher than that in group A 9.3％ (P＜0.05).Conclusion In patients with PCOS,the levels of leptin and insulin were significantly elevated if the elevation of leptin levels was inherent in obesity.Both resistances on insulin and leptin might exist at the same time.The serum leptin was positively correlated with BMI,insulin and IR index.It seemed worthwhile to treat the patients with metformin in aciesis of PCOS to improve both the rates on ovulation and pregnancy.

Study on the evaluation index system of the quality of health education among the elderly in the community / 中国实用护理杂志

Objective To establish a scientific and feasible evaluation index system of the quality of health education among the elderly in the community.Methods Based on the results of literature review,theory analysis,cross-sectional study and interviews,a draft evaluation index system was formulated.Then Delphi method was conducted on 28 specialists around the country,the weight of each index was determined by hierarchy analysis.Results After three rounds of Delphi procedure,the response rates of the three round consultation were all above 85％,and the authority coefficient and coordination coefficients was 0.858,0.210,respectively.An evaluation index system which covered three first-level items,7 second-level items and 35 third-level items was formulated.Conclusions Based on survey of the elderly and interviews of health education staffs in the community,and using the method of Delphi to collect experts' suggestion,a strong maneuverability and high reliability quality evaluation index system was formulated,which provided guidance for community health education of the elderly,and promoted its development towards scientization and standardization.

Survey of quality of life for patients with breast ductal carcinoma in situ and analysis of related factors / 国际肿瘤学杂志

Objective To study the quality of life (QOL) of patients with ductal carcinoma in situ (DCIS) and to analyze the relevant factors affecting their QOL.Methods A total of 84 patients with DCIS and 125 patients with invasive breast cancer were surveyed.Researchers used SF-36 to assess the QOL of participants at one year after operation.The relationships between some information of patients and SF-36 score were analyzed,such as age,the type of surgery,endocrine therapy,education,marital status,working status and health insurance.Results Compared to normal women,patients with DCIS had lower QOL in physical function (t =2.468,P =0.029),bodily pain (t =2.076,P =0.039),general health (t =2.153,P =0.033) and mental health (t =3.396,P =0.003).Patients with invasive breast cancer also had poorer QOL in physical function (t =5.638,P =0.002),bodily pain (t =5.417,P =0.002),vitality (t =4.438,P =0.002),general health (t =3.960,P =0.002) and mental health (t =6.020,P =0.001).QOL of DCIS patients was similar to that of invasive breast cancer patients,except that scores of physical function (t =2.714,P =0.032) and vitality (t =2.134,P =0.040) were better in DCIS patients.Endocrine therapy significantly affected the score of QOL of DCIS patients.DCIS patients with endocrine therapy had poorer score in physical function (t =2.082,P ＜ 0.05),bodily pain (t =2.003,P ＜ 0.05),general health (t =2.751,P ＜0.05),vitality (t =2.048,P ＜ 0.05) and mental health (t =4.162,P ＜ 0.05).Conclusion Patients with DCIS have poor QOL at one year after operation.Endocrine therapy significantly reduces their QOL.

Factors affecting the quality of life in lung cancer patients measured by EORTC QLQ questionnaire / 中国肺癌杂志

<p><b>BACKGROUND</b>To evaluate the quality of life (QoL) of lung cancer patients and to investigate the differences in QoL with respect to social and medical characteristics.</p><p><b>METHODS</b>Structured questionnaires (EORTC QLQ-C30 and QLQ-LC13) were used in 106 consecutive lung cancer patients for data collection during January 1, 2002 to December 31, 2002. The t test and one-way analysis of variance (ANOVA) were used to compare the differences in QoL at a 5% level of significance.</p><p><b>RESULTS</b>The QoL of lung cancer patients were worse than reference value. The QoL of young, male and married patient groups was better than that in old, female and single groups. The QoL in patients with lower education or income was worse than that in patients with high education and income. Small cell lung cancer patients showed poorer QoL than non-small cell lung cancer patients did. The locally advanced or metastatic patients had worse QoL. All the kinds of treatments could worsen the QoL, however, the patients receiving surgical treatment had best QoL.</p><p><b>CONCLUSIONS</b>The results suggest that the establishment of QoL judgment standard in Chinese lung cancer patients might be useful for clinicians, researchers and policy-makers.</p>