scholarly journals Awareness of prenatal genetic tests and attitude towards termination of pregnancy regarding fetal congenital heart defects among clinicians in China: a multi-center cross-sectional study

2020 ◽  
Author(s):  
jian wang ◽  
zhuoyan li ◽  
jianping yang ◽  
yanan lu ◽  
yurong wu ◽  
...  

Abstract Background: This study was aim to figure out the level of awareness about providing genetic tests and the attitude towards termination of pregnancy (TOP) regarding fetal congenital heart defects (CHD) among clinicians in China.Methods: A total of 501 clinicians were divided into 2 groups: clinicians whose working hospital were available of prenatal genetic service were assigned into group 1, whose working hospital were not available of prenatal genetic service were assigned to group 2. The level of awareness and the attitude were evaluated according to scores of a questionnaire. Results: Among the 501 total clinicians, only 27.94% received a high score and 53.09% received a medium score, indicating a low level of awareness about prenatal genetic tests among clinicians. 31.62% clinicians in group 1, but only 24.19% in group 2 showed good awareness of providing genetic tests (P=0.023). About 44.3% of clinicians in group 1, but only by 29.4% of those in group 2 held optimistic attitudes towards minor CHDs and were less favor of TOP in minor CHDs (P=0.023). Conclusion: Prenatal genetic tests and counseling in hospital are necessary and should be improved in the management of fetal CHD in China.

Author(s):  
Martin Promm ◽  
Stephan Gerling ◽  
Carsten P. Schepp ◽  
Wolfgang H. Rösch

Abstract Introduction Classic bladder exstrophy (BE) is regarded as an isolated malformation without any further anomalies, but some studies have indicated a higher incidence of cardiac anomalies. This cross-sectional study is planned to evaluate the prevalence of congenital heart defects (CHDs) and the clinical relevance for patients with BE admitted for primary closure. Materials and Methods Patients were prospectively recruited between March 2012 and January 2019. Patients' profiles including demographic data, results of transthoracic echocardiography (TTE), as well as essential peri- and postoperative data were assessed. Results Thirty-nine (25 boys and 14 girls) patients with BE (median age 61 days) underwent delayed primary bladder closure. Thirty-seven (24 boys and 13 girls) patients had received TTE 1 day before surgery. CHD was detected in 7 (18.9%) out of the 39 patients, but no clinical differences between patients with and without CHD were observed peri- or postoperatively. Discussion and Conclusion This prospective systematic evaluation shows an even higher rate of CHD in patients with BE than assumed previously. Although peri- and postoperative outcome did not differ between patients with and without CHD, we consider TTE an important additional method for ensuring a safe peri- and postoperative courses and a short- and long-term care for patients with CHD.


2019 ◽  
Vol 66 (2) ◽  
pp. 187-193
Author(s):  
Hoang Thi Nam Giang ◽  
Susanne Bechtold-Dalla Pozza ◽  
Sarah Ulrich ◽  
Le Khac Linh ◽  
Hoang Thi Tran

Abstract Background Burden and pattern of congenital anomalies are insufficiently reported in Vietnam. This study aims to determine the prevalence and pattern of congenital anomalies in neonates in a tertiary hospital in central Vietnam. Methods A prospective cross-sectional study recruited all newborns with congenital anomalies in Da Nang Hospital for Women and Children—where nearly 60% neonates in the city are delivered. Results Over a 1-year period, 551 out of 14 335 registered live births were found to have congenital anomalies, equivalent to an overall prevalence of 384.4 per 10 000 live births. Congenital heart defects were the most common type (52.3%) with the prevalence of 200.9 per 10 000 live births, followed by anomalies of musculoskeletal system, digestive system. Conclusions This study revealed a high prevalence of congenital anomalies with the most common type being congenital heart defects in central Vietnam compared to both higher income countries and resource-limited settings.


2016 ◽  
Vol 101 (9) ◽  
pp. 803-807 ◽  
Author(s):  
Aya M Fattouh ◽  
Engy A Mogahed ◽  
Nehal Abdel Hamid ◽  
Rodina Sobhy ◽  
Noha Saber ◽  
...  

BackgroundThere is deficiency of data about congenital heart defects (CHDs) in cholestatic disorders of infancy other than Alagille syndrome (AGS). We aimed to define the prevalence and types of CHDs in infants with various causes of cholestatic disorders of infancy.MethodsThis cross-sectional study was conducted on 139 infants presenting with cholestasis whether surgical or non-surgical. The study was carried out at the Pediatric Hepatology Unit, Cairo University Children's Hospital, Egypt. Full examination and investigations were done in an attempt to reach an aetiologic diagnosis for cholestasis, in addition to a comprehensive echocardiographic study.ResultsThe age at the onset of cholestasis ranged from 1 day to 7 months. Males constituted 61.2%. Biliary atresia (BA) was diagnosed in 39 patients (28%), AGS in 16 patients (11.5%), 27 patients had miscellaneous diagnoses and 57 cases had indeterminate aetiology. CHDs were detected in 55 patients (39.5%). Shunt lesions were detected in 24 patients (43.6%), pulmonary stenosis in 18 patients (32.7%) and combined lesions in 9 patients (16.4%). Three patients (5.5%) had abnormal cardiac situs. Only seven patients had clinical presentation suggestive of CHD. CHDs were detected in 14 patients with BA (35.9%), 15 patients with AGS (93.7%) and 26 patients in the remaining group (30.9%).ConclusionCHDs are not uncommon among cholestatic infants and are mostly asymptomatic. Echocardiographic examination of cholestatic infants is recommended particularly for patients with BA before undergoing hepatic portoenterostomy as presence of CHD may impact the anaesthetic planning and affect the outcome of hepatobiliary surgery.


2019 ◽  
Vol 9 (1) ◽  
Author(s):  
Công Hiếu Lương ◽  

Tóm tắt Đặt vấn đề: Phẫu thuật tim ít xâm lấn phát triển mạnh trên thế giới và đã được chứng minh đem lại nhiều lợi ích cho người bệnh. Chúng tôi thực hiện nghiên cứu này nhằm đánh giá tính khả thi và an toàn của kĩ thuật phẫu thuật ít xâm lấn điều trị các dị tật tim bẩm sinh. Phương pháp nghiên cứu: Đây là nghiên cứu mô tả hàng loạt ca được thực hiện tại khoa Phẫu thuật tim mạch Bệnh viện Đại học Y Dược thành phố Hồ Chí Minh. Tất cả các người bệnh có dị tật tim bẩm sinh được phẫu thuật ít xâm lấn sửa chữa dị tật từ tháng 7/2014 đến 7/2018 được thu thập số liệu. Kết quả: Tổng cộng có 134 trường hợp: mở ngực phải có nội soi hỗ trợ (nhóm 1): 62 ca (46%), mở ngực nhỏ giữa xương ức (nhóm 2): 72 ca (54%). Nhóm 1: tuổi trung bình 27.6 ± 14,7 tuổi (6 – 63 tuổi), tỷ lệ nam : nữ là 1:2,1, cân nặng trung bình 47,0 ± 9,9 kg (16 – 60kg). Nhóm 2 : tuổi trung bình 6,5 ± 4,3 tuổi (1 – 24 tuổi), tỷ lệ nam: nữ là 1,4:1, cân nặng trung bình 12 kg (7,5 – 54 kg). Các dị tật bẩm sinh được phẫu thuật: thông liên nhĩ, thông liên thất, kênh nhĩ thất bán phần, tim ba buồn nhĩ, bất thường hồi lưu tĩnh mạch phổi. Các kỹ thuật phẫu thuật được thực hiện: vá thông liên nhĩ, vá thông liên thất, sửa van 2 lá, sửa van 3 lá, sửa chữa bất thường hồi lưu tĩnh mạch phổi. Trong 2 nhóm, người bệnh được rút nội khí quản sớm (3-6 giờ sau mổ), thời gian nằm hồi sức tim trung bình 2 ngày, thời gian nằm viện sau mổ trung bình là 5 ngày và không có trường hợp tử vong. Kết luận: Phẫu thuật ít xâm lấn sửa chữa dị tật bẩm sinh khả thi và an toàn. Đường mổ ít xâm lấn ngực phải có sự hỗ trợ của nội soi cũng như đường mở ngực giữa nửa xương ức giúp tiếp cận tốt các tổn thương bẩm sinh: thông liên nhĩ, thông liên thất, tổn thương van nhĩ thất … để thực hiện các thao tác sửa chữa. Abstract Introduction: The concept of minimally invasive surgery for congenital heart disease in pediatric surgery is accepted worldwide with the aim to reduce trauma during operation. Since 2014, we have adopted a minimally surgical approach to manage the congenital heart defects. We conduct the study to identify the effectiveness and the safety of this approach. Material and Methods: Between July 2014 and July 2018, all patients who underwent a minimally invasive surgical approach at the University Medical center HCMC, were enrolled. The database including the outcomes, patients clinical conditions and satisfaction at follow-up were collected and analyzed. Results: There were 134 patients with congenital heart defects underwent minimally invasive repair. Group 1 (right video-assisted minithoracotomy): 62 patients (46%), group 2 (midline ministernotomy): 72 patients (54%). Group 1: mean age 27.6 ± 14.7ys (6 – 63 ys), male/ female ratio was : 1:2.1. Group 2: mean age 6.5 ± 4.3ys (1 – 24 ys), male/ female ration was : 1.4:1. The congenital heart defects are ASD, VSD, AVSD, Cor-triatristum, PAPVR, etc. Procedure performed are ASD closure, VSD closure, pulmonary veins rerouting, AV valve repair, etc. In both groups, all patients were removed the endotracheal tube within 3-6 hours, and discharged within 5-7 days. There was no mortality in this series. Conclusion: Approach and repair the congenital heart defects via right video- assisted thoracotomy and minimally midline sternotomy are safe and effective. Keyword: Minimally invasive approach; Congenital heart defects.


Diagnostics ◽  
2021 ◽  
Vol 11 (3) ◽  
pp. 417
Author(s):  
Lidia Arce-Sánchez ◽  
Salvatore Giovanni Vitale ◽  
Claudia Montserrat Flores-Robles ◽  
Myrna Souraye Godines-Enriquez ◽  
Marco Noventa ◽  
...  

The primary aim of this study was to compare the prevalence of subclinical hypothyroidism (SCH) using two different cut-off levels for TSH values (≥2.5 mIU/L versus ≥4.1 mIU/L). The secondary objective was to analyze the clinical-biochemical characteristics in women with and without SCH. This was a retrospective cross-sectional study. In total, 1496 Mexican women with infertility were included: Group 1, women with TSH levels ranging between 0.3 and 2.49 mIU/L, n = 886; Group 2, women with TSH between 2.5 and 4.09 mIU/L, n = 390; and Group 3, women with TSH ≥4.1 mIU/L n = 220. SCH prevalence was 40.7% (CI 95%: 38.3–43.3%) with TSH cut-off ≥ 2.5 mIU/L, and 14.7% (CI 95%: 12.7–16.5%) with TSH cut-off ≥ 4.1 mIU/L, (p = 0.0001). The prevalence of overweight was higher in Group 2 than in Groups 1 and 3. Thyroid autoimmunity, obesity and insulin resistance were higher in Group 3 than in Group 1 (p < 0.05). No other differences were observed between groups. Conclusions: The prevalence of SCH in our selected patients increased almost three times using a TSH cut-off ≥ 2.5 mIU/L compared with a TSH cut-off ≥ 4.1 mIU/L. Women with TSH ≥4.1 mIU/L compared with TSH cut-off ≤ 2.5 mIU/L more often presented with obesity, thyroid autoimmunity and insulin resistance.


BMJ Open ◽  
2018 ◽  
Vol 8 (9) ◽  
pp. e022233 ◽  
Author(s):  
Amanda Jane Blatch-Jones ◽  
Wei Pek ◽  
Emma Kirkpatrick ◽  
Martin Ashton-Key

ObjectivesTo assess the value of pilot and feasibility studies to randomised controlled trials (RCTs) funded by the National Institute for Health Research (NIHR) Health Technology Assessment (HTA) programme. To explore the methodological components of pilot/feasibility studies and how they inform full RCTs.Study designCross-sectional study.SettingBoth groups included NIHR HTA programme funded studies in the period 1 January 2010–31 December 2014 (decision date). Group 1: stand-alone pilot/feasibility studies published in the HTA Journal or accepted for publication. Group 2: all funded RCT applications funded by the HTA programme, including reference to an internal and/or external pilot/feasibility study. The methodological components were assessed using an adapted framework from a previous study.Main outcome measuresThe proportion of stand-alone pilot and feasibility studies which recommended proceeding to full trial and what study elements were assessed. The proportion of ‘HTA funded’ trials which used internal and external pilot and feasibility studies to inform the design of the trial.ResultsGroup 1 identified 15 stand-alone pilot/feasibility studies. Study elements most commonly assessed weretesting recruitment(100% in both groups),feasibility(83%, 100%) andsuggestions for further study/investigation(83%, 100%). Group 2 identified 161 ‘HTA funded’ applications: 59 cited an external pilot/feasibility study wheretesting recruitment(50%, 73%) andfeasibility(42%, 73%) were the most commonly reported study elements: 92 reported an internal pilot/feasibility study wheretesting recruitment(93%, 100%) andfeasibility(44%, 92%) were the most common study elements reported.Conclusions‘HTA funded’ research which includes pilot and feasibility studies assesses a variety of study elements. Pilot and feasibility studies serve an important role when determining the most appropriate trial design. However, how they are reported and in what context requires caution when interpreting the findings and delivering a definitive trial.


2020 ◽  
Vol 4 (4) ◽  
pp. 98-101
Author(s):  
Akshaye Kumar ◽  
Priyanka Sharma ◽  
Arjun Malhotra

INTRODUCTION: Research has proven that music plays an important role in alleviating fear and anxiety among patients.AIM: To assess the effect of audio analgesia in pre-teen children aged 8-12 years undergoing dental restorations. MATERIALS AND METHOD: Data was collected using a pre-tested and pre-validated proforma filled by the child prior to start of the treatment by circling the number corresponding to the expected pain during the procedure [Ranged 0 (No pain) -10 (Maximum pain)]. Children who reported their expected pain above 5, were enrolled in group 1 (The ones receiving audio analgesia) while the remaining were assigned group 2 (controls). Children in group 1 were asked to put on their favourite song using noise cancellation headphones and the procedure was commenced. After completion of the treatment, the VAS scale was re-introduced and the children were asked to re-circle the actual pain experienced during the procedure. Data was analyzed using SPSS version 20.0 using the chi-squared test and Pearson’s correlation coefficient. A significant value was obtained when p was≤ 0.05. RESULTS: Of the total 80 children enrolled in the present study, there were an equal number of males and females (40 each). It was observed that 70.3% of children in group 1 had an increased pain tolerance as compared to only 37.2% of children in the control group(p=0.01). Pearson’s Correlation revealed a positive and linear association (r: +0.721) and a significant relationship (p = 0.03) between both groups. CONCLUSION: Audio analgesia has been proven to a promising alternative to distract the patient from the anxiety faced in the dental setting and is recommended for nervous and anxious patients.


MedAlliance ◽  
2020 ◽  
Vol 8 (2) ◽  
pp. 72-78

Small airway dysfunction (SAD) is associated with poorly controlled asthma and frequent exacerbations. Objective: To assess the prevalence of SAD in asthmatics using spirometry, body plethysmography, and impulse oscillometry (IOS). Materials and methods: The observational cross-sectional study of 61 patients with asthma was performed. Conclusion available SAD was made on the basis of identifying one of the criteria or their combination: 1) slow vital capacity (SVC) - forced vital capacity (FVC) >10% according spirometry; 2) "air trapping" according body plethysmography; 3) presence of pathological frequency dependence of the resistance (R) at 5 and 20 Hz (R5-R20 > 0,07 kPa•sec/l) according IOS. Results: The analysis was performed for the entire group as well as for patients with FEV1 > 80 %pred. and FEV1/SVC < 0,7 (group 1) and patients with FEV1 > 80 %pred. and normal FEV1/SVC (group 2). SAD was most often diagnosed using IOS and the selected criterion R5-R20>0,07 kPa •sec/l since 75% of patients had this deviation in the entire group, 65% of patients in group 1 and 55% of patients in group 2 whereas only in 48% and 24% of cases in the entire group according body plethysmography and spirometry, respectively. Conclusion: SAD is definitely observed in patients with asthma. IOS is a more effective method of diagnosing SAD compared to spirometry and body plethysmography and can serve as a supplement functional method, especially in cases of normal parameters of spirometry and body plethysmography in asthmatics.


2021 ◽  
pp. 58-61
Author(s):  
Rubi Kataki ◽  
Pranamee Barua ◽  
Debosmita Roy ◽  
Prasanta Kumar Rabha

The novel coronavirus are found to affect the ACE2 receptors in the epithelial cells of the lining of the respiratory tract. Since live virus have been found in the saliva of infected patients, and ACE2 receptors are present in epithelial lining of salivary glands and tongue, there are chances that the virus might affect the oral cavity and hence might have oral manifestation. The aim of the study was to determine and evaluate the presence of oral symptoms in the patients infected with the 2019 Novel Coronavirus (Covid 19). In this cross sectional descriptive study, a set of questionnaires was MATERIALS AND METHODS: formulated and the patients who have come to covid screening centers in Kamrup Metro region were interviewed for both oral symptoms and general symptoms. A total of 467 patients were evaluated. The samples were divided according to covid positive or negative. Group 1: Covid positive (+ve); Group 2: Covid negative (- ve). Out of which Group 1 had 287 patients whereas Group 2 had 180 patients. Upon statist RESULTS: ical analysis, signicant differences were found with respect to fever, cough, breathing difficulty, sore throat, arthralgia, and asthenia where covid positive patients found to have a high prevalence of these symptoms. On evaluation of the of the oral symptoms in both covid positive and negative patients signicant differences were found viz., burning sensation, swollen gums , changes in taste sensation, pain in the TMJ and bleeding gums with covid positive patients having more predilection of having all these symptoms. On evaluation of the gender predilection between positive patients with symptoms, positive patients without symptoms and negative patients with symptoms , there found to be no signicant difference. oral CONCLUSION symptoms of burning sensation, changes in taste sensation , bleeding gums and pain in the TMJ are found to be more prevalent with patients having corona virus infection.


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