scholarly journals Awareness of patients seeking a medicogenetic counseling as a factor for prevention of hereditary and congenital diseases

2014 ◽  
Vol 95 (3) ◽  
pp. 367-370
Author(s):  
N A Kasimovskaya ◽  
I I Yakushina
Keyword(s):  
Risk Factors ◽  
Risk Factor ◽  
Genetic Counseling ◽  
Health Status ◽  
Family Planning ◽  
Congenital Abnormalities ◽  
Test Results ◽  
Congenital Diseases ◽  
Future Child ◽  
Biochemistry Test

Aim. To evaluate the awareness of patients of questions of medical genetics at the stage of family planning before pregnancy. Methods. Sociological, statistical and analytical analysis was performed. 350 respondents participated in the survey, including 304 pregnant women. Results. 219 (62.6%) of 350 respondents reported that they didn’t know the risk factors for hereditary and congenital diseases. Smoking as a risk factor was noted by 32 (9.1%) of all respondents, alcohol abuse - by 7 (2%), drug abuse - by 3 (0.9%), medication intake - by 24 (6.9%), infections - by 20 (5.7%), the presence of disease with hereditary predisposition - by 25 (7.1%), malnutrition - by 20 (5.7%) respondents. Approximately half of all respondents reported that they «know about the threads associated with hereditary and congenital diseases for the health status of their future child», 39.1% «knew, but not enough», 11.2% «didn’t know». Out of 350 respondents, 299 (85.4%) have never seek for medicogenetic counseling for pregnancy planning before. The main reasons for seeking for medicogenetic counseling were: abnormal biochemistry test results found at screening - in 169 (55.6%) of cases, seeking for prognosis of the future child health - in 61 (20.1%) of cases, age over 35 years - in 39 (12.8%) cases. Almost one-third of all responders (33.2%) did not know about methods for hereditary and congenital abnormalities prevention, 41.2% «knew, but not enough», and only 25.6% thought that they knew about those methods. Conclusion. The patients are seeking for the medical and genetic counseling in retrospect, when they already have health problems, and they are not informed about medical and genetic counseling, as well as are unaware of the importance of risk factors and methods for hereditary and congenital abnormalities prevention.

scholarly journals Factores de riesgo genético y diagnóstico prenatal

2021 ◽  
Vol 81 (03) ◽  
pp. 209-225
Author(s):  
Alisandra Morales de Machín ◽  
Karelis Urdaneta ◽  
Lisbeth Borjas ◽  
Karile Méndez ◽  
Enrique Machín ◽  
...  
Keyword(s):  
Risk Factors ◽  
Risk Factor ◽  
Genetic Counseling ◽  
Genetic Risk ◽  
Diagnostic Procedures ◽  
Genetic Risk Factors ◽  
Genetic Risk Factor ◽  
Congenital Defects ◽  
Prenatal Diagnostic ◽  
History Of

Objective: To identify genetic risk factors and frequency and to describe congenital defects of the fetus. Methods: The research was conducted at the Genetic Research Institute of the Faculty of Medicine. University of Zulia. Maracaibo. We studied patients who attend to the prenatal genetic clinic. According to the Genetic risk factors Identified, it indicated different prenatal diagnostic procedures: fetal echography, fetal echocardiography, triple maternal serum marker, amniocentesis for fetal karyotype and molecular analysis. Results: We included 568 patients. 79.05% of the total showed only one genetic risk factor and the 20.95% two or more. The advanced maternal age was the most frequent genetic risk factor found (40.85%), followed by first-degree family history with a congenital defect (35.21%), abnormal fetal echography (13.73%), exposure to teratogenic agents (10.39%), history of recurrent abortion (7.04%), history of fetal death (4.22%), consanguinity (1.93%), and history of neonatal death (1.76%). They were diagnosed 101 fetuses with congenital defects, one balanced translocation, two fetal deaths and 26 spontaneous abortions. Conclusion: The genetic risk factors identification, served as a starting point to indicate prenatal diagnostic procedures allowed a health evaluation of the fetus and adequate genetic counseling. Key words: Prenatal diagnosis, Risk factors, Genetic counseling.

scholarly journals Central Hypoventilation Is a Key Risk Factor for Mechanical Ventilation During the Acute Phase of Anti-N-Methyl-D-Aspartate Receptor Encephalitis

2021 ◽  
Vol 12 ◽  
Author(s):  
Qianhui Xu ◽  
Qian Wang ◽  
Jing Han ◽  
Fengju Mao ◽  
Silin Zeng ◽  
...  
Keyword(s):  
Risk Factors ◽  
Mechanical Ventilation ◽  
Logistic Regression ◽  
Regression Analysis ◽  
Risk Factor ◽  
Clinical Characteristics ◽  
Test Results ◽  
Aspartate Receptor ◽  
Nmdar Encephalitis ◽  
Central Hypoventilation

Objective: Anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis is an acute form of encephalitis of autoimmune etiology. We aimed to evaluate the risk factors that predicted the need for mechanical ventilation during the acute phase of anti-NMDAR encephalitis through an analysis of the clinical characteristics and biochemical test results of the patients with anti-NMDAR encephalitis.Methods: In this retrospective study, patients who primarily presented with anti-NMDAR encephalitis and exhibited anti-NMDAR antibody positivity in the cerebrospinal fluid (CSF) between November 2015 and February 2020 were included. Data on the clinical characteristics, biochemical test results, and treatment methods selected for the patients were collected for the analysis of factors predicting the need for mechanical ventilation.Results: Thirty-one patients with a median age of onset of 31 years (inter-quartile range: 21–48 years) were included in this study, of which 15 were male (48.4%). Psychosis (23, 74.2%), seizures (20, 64.5%), and memory deficit (20, 64.5%) were the most common clinical manifestations. At admission, 17 patients (54.8%) presented with pyrexia, of which 12 (38.7%) had a body temperature ≥38°C, and six patients (19.4%) presented with central hypoventilation. All patients received first-line therapy (glucocorticoids, intravenous immunoglobulin, or plasmapheresis alone or combined), whereas two patients (6.5%) received rituximab, a second-line agent, as well. Seven patents required mechanical ventilation. Results of univariate logistic regression analysis revealed that body temperature ≥38°C [odds ratio (OR) = 18, 95% confidence interval (CI): 1.79–181.31, P < 0.05] and central hypoventilation at admission (OR = 57.50, 95% CI: 4.32–764.89, P < 0.05) were the risk factors for mechanical ventilation. Multivariate logistic regression analysis showed that central hypoventilation at admission was the only risk factor predicting the need for mechanical ventilation.Conclusion: Central hypoventilation at admission is a key risk factor for mechanical ventilation during hospitalization in patients with anti-NMDAR encephalitis.

Are we ready for Telemedicine? Trends in Health Information Technology (HIT) use among the U.S population 2012-2018 (Preprint)

2021 ◽  
Author(s):  
Nikhila Gandrakota ◽  
Mohammed K Ali ◽  
Megha K Shah
Keyword(s):  
Risk Factors ◽  
High School ◽  
Information Technology ◽  
Risk Factor ◽  
Cardiovascular Risk ◽  
Health Status ◽  
Cardiovascular Risk Factors ◽  
Health Information Technology ◽  
Health Information ◽  
Technology Use

BACKGROUND The pandemic forced clinicians to pivot to offering services via telehealth, but it is unclear whether and which patients (users of care) were equipped to use digital health. This is especially pertinent for those adults managing chronic diseases, such as obesity, hypertension, and diabetes, which require regular follow medication management, and self-monitoring. OBJECTIVE To measure the trends and assess factors affecting Health Information Technology Use among US population with and without cardiovascular risk factors. METHODS We used serial cross-sectional National Health Interview Survey (NHIS) data from the years 2012 and 2018 was used to assess trends in health information technology (HIT) use among adults, stratified by age and cardiovascular risk factor status. A linear trend analysis was performed to observe the annual percentage change (APC) in HIT use from the years 2012 to 2018 by age, education, and cardiovascular risk status. We developed multivariate logistic regression models adjusted for age, sex, race, insurance status, marital status, geographic region, and perceived health status to assess the likelihood of HIT use among patients with and without cardiovascular disease risk factors. RESULTS 14,304 (44.6%) and 14,644 (58.7%) participants reported using HIT in 2012 and 2018, respectively. When comparing the rates of HIT use for the years 2012 and 2018 respectively, among participants without cardiovascular risk factors, the HIT use proportion increased from 51.1% to 65.8%, with one risk factor increased from 43.9% to 59%, and with more than one risk factor increased from 41.3% to 54.7%. Increasing trends in HIT use were highest among adults aged >65 years (APC: 8.3%), who had more than one CVD risk factors (APC: 5%), and among those who did not have high school graduation (APC: 8.8%). Likelihood of HIT use was significantly higher in younger, female, non-Hispanic white, higher education and income, married, and individuals reporting very good or excellent health status. In 2018, college graduates were 7.18 (95% CI: 5.86,8.79), 6.25 (5.02,7.78), 7.80 (5.87,10.36) times more likely to use HIT compared to adults without high school education among people with multiple, one, or no cardiovascular risk factors, respectively. CONCLUSIONS Over 2012-2018, HIT use increased nationally, with greater use noted among younger and higher educated U.S. adults. Targeted strategies are needed to engage a wider age-, race-, education-, and socioeconomic groups through lowering barriers to HIT access and utilization.

Hemmkörperentwicklung bei Hämophilie-Patienten nach Präparate wechsel

2012 ◽  
Vol 32 (S 01) ◽  
pp. S39-S42 ◽  
Author(s):  
S. Kocher ◽  
G. Asmelash ◽  
V. Makki ◽  
S. Müller ◽  
S. Krekeler ◽  
...  
Keyword(s):  
Risk Factors ◽  
Risk Factor ◽  
Observational Study ◽  
Retrospective Observational Study ◽  
Frequent Change ◽  
Patient Age ◽  
Treatment Regimens ◽  
Patient Âgé ◽  
The Relationship ◽  
Observation Period

SummaryThe retrospective observational study surveys the relationship between development of inhibitors in the treatment of haemophilia patients and risk factors such as changing FVIII products. A total of 119 patients were included in this study, 198 changes of FVIII products were evaluated. Results: During the observation period of 12 months none of the patients developed an inhibitor, which was temporally associated with a change of FVIII products. A frequent change of FVIII products didn’t lead to an increase in inhibitor risk. The change between plasmatic and recombinant preparations could not be confirmed as a risk factor. Furthermore, no correlation between treatment regimens, severity, patient age and comorbidities of the patients could be found.

Risk Factors of Collateralized Loan Obligations and Corporate Bonds

2020 ◽  
Vol 32 (6) ◽  
pp. 347-355
Author(s):  
Mark Wahrenburg ◽  
Andreas Barth ◽  
Mohammad Izadi ◽  
Anas Rahhal
Keyword(s):  
Risk Factors ◽  
Risk Factor ◽  
Asset Pricing ◽  
Systemic Risk ◽  
Corporate Bonds ◽  
Risk Exposure ◽  
Expected Returns ◽  
Yield Spreads ◽  
Pricing Factors ◽  
Return Difference

AbstractStructured products like collateralized loan obligations (CLOs) tend to offer significantly higher yield spreads than corporate bonds (CBs) with the same rating. At the same time, empirical evidence does not indicate that this higher yield is reduced by higher default losses of CLOs. The evidence thus suggests that CLOs offer higher expected returns compared to CB with similar credit risk. This study aims to analyze whether this return difference is captured by asset pricing factors. We show that market risk is the predominant risk factor for both CBs and CLOs. CLO investors, however, additionally demand a premium for their risk exposure towards systemic risk. This premium is inversely related to the rating class of the CLO.

HUBUNGAN UMUR DAN PARITAS DENGAN PEMILIHAN ALAT KONTRASEPSI METODE OPERASI WANITA (MOW) DI POLIKLINIK KEBIDANAN RS BHAYANGKARA PALEMBANG TAHUN 2012

2019 ◽  
Vol 3 (2) ◽  
Author(s):  
Y. Widyastuti Y. Widyastuti
Keyword(s):  
Family Planning ◽  
Medical Records ◽  
Test Results ◽  
Family Planning Services ◽  
Chi Square ◽  
Cross Sectional ◽  
Planning Methods ◽  
Chi Square Test ◽  
Family Planning Methods ◽  
Selection Of

  ABSTRACT [In advanced countries the number of permanent contraception option ( kontap ) approximately 10 % of all national family planning methods , while in Indonesia reached approximately 5.7 % . Based on data obtained from medical records Bhayangkara Hospital Palembang in 2010 the number of achievement when seen from the percentage of contraceptive use is only 9.10 % The purpose of this study is known age and parity relationship with the selection of contraceptive methods Surgery Women ( MOW ) in Palembang RS.Bhayangkara obstetrics clinic in 2012 . This study uses the analytic survey with cross sectional approach . The population in this study were women who become new acceptors were recorded in medical records at the hospital . Palembang Bhayangkara Hospitals January 1, 2012 to December 31 in 2012 . The sample in this study is part of a whole number of new acceptors ( either using contraception methods MOW and other family planning methods ) were registered in the hospital . Palembang Police Hospitals of January 1, 2012 to December 31 years of data 2012.Analisa univariate and bivariate statistical Chi - Square test with significance level α = 0.05 . The results showed there were 80 respondents ( 46.3 % ) who became MOW contraceptive acceptors , acceptors who have old age by 45 respondents ( 56.3 % ) and who has a young age by 35 respondents ( 43.8 % ) . acceptors which have high parity were 44 respondents ( 55 % ) who had low parity and a total of 36 respondents ( 45 % ) . From the results of Chi-square test value obtained ρ = 0.00 is smaller than α = 0.05 . There is a significant correlation between age and the selection of MOW Chi square test results obtained ρ value = 0.00 and there was a significant association between parity with the election MOW Chi square test results obtained ρ value = 0 , . From these results , it is expected to power health, especially family planning services at the hospital . Palembang Police Hospitals in order to improve the quality of family planning services in an effective, efficient , and safe are considered particularly suitable for users of contraception OperatingMethodWomen(MOW).                                      ABSTRAK Di negara sudah maju jumlah pilihan kontrasepsi mantap (kontap) sekitar 10% dari semua metode KB nasional, sedangkan di Indonesia baru mencapai sekitar 5,7 %. Berdasarkan data yang diperoleh dari Rekam medik  Rumah Sakit Bhayangkara Palembang tahun 2010 Jumlah pencapain tersebut jika dilihat dari persentasi penggunaan kontrasepsi MOW hanya  9,10% Tujuan penelitian ini adalah diketahuinya hubungan umur dan paritas dengan pemilihan alat kontrasepsi Metode Operasi Wanita (MOW) di poliklinik kebidanan RS.Bhayangkara Palembang Tahun 2012. Penelitian ini menggunakan metode survey analitik dengan pendekatan cross sectional. Populasi dalam penelitian ini adalah wanita yang menjadi akseptor KB Baru yang tercatat di rekam medik  di RS. Bhayangkara Palembang tanggal 1 januari 2012 sampai dengan 31 Desember  tahun 2012. Sampel dalam penelitian ini adalah sebagian dari seluruh jumlah akseptor KB Baru (baik yang menggunakan alat kontrasepsi Metode MOW maupun Metode KB lain) yang teregister di RS. Bhayangkara Palembang dari tanggal 1 januari 2012 sampai dengan 31 Desember  tahun 2012.Analisa data dilakukan secara univariat dan bivariat dengan uji statistik Chi-Square dengan tingkat kemaknaan α = 0,05. Hasil penelitian menunjukkan dari 80 responden terdapat (46,3%) yang menjadi akseptor kontrasepsi MOW, akseptor yang memiliki umur tua sebanyak 45 responden (56,3%) dan yang memiliki  umur muda sebanyak 35 responden (43,8%). akseptor yang memiliki paritas tinggi sebanyak 44 responden  (55%) dan yang memiliki  paritas rendah sebanyak 36 responden (45%). Dari hasil uji Chi square didapatkan ρ value = 0,00 lebih kecil dari α = 0,05. Ada hubungan yang bermakna antara umur dengan pemilihan MOW dari hasil uji Chi square didapatkan ρ value = 0,00 dan ada hubungan yang bermakna antara paritas dengan pemilihan MOW hasil uji Chi square didapatkan ρ value = 0,.Dari hasil penelitian ini, diharapkan kepada tenaga kesehatan khususnya pelayanan KB  di RS. Bhayangkara Palembang  agar dapat meningkatkan kualitas pelayanan KB secara efektif, efisien, dan aman yang dianggap cocok bagi penggunanya khususnya mengenai kontrasepsi Metode Operasi Wanita (MOW).    

Cardiovascular Risk in Perimenopausal Women

2019 ◽  
Vol 17 (6) ◽  
pp. 591-594 ◽  
Author(s):  
John C. Stevenson ◽  
Sophia Tsiligiannis ◽  
Nick Panay
Keyword(s):  
Risk Factors ◽  
Risk Factor ◽  
Ovarian Function ◽  
Density Lipoprotein ◽  
Premenopausal Women ◽  
Therapeutic Interventions ◽  
Additional Risk Factor ◽  
Chd Risk ◽  
Perimenopausal Women ◽  
Chd Risk Factors

Cardiovascular disease, and particularly coronary heart disease (CHD), has a low incidence in premenopausal women. Loss of ovarian hormones during the perimenopause and menopause leads to a sharp increase in incidence. Although most CHD risk factors are common to both men and women, the menopause is a unique additional risk factor for women. Sex steroids have profound effects on many CHD risk factors. Their loss leads to adverse changes in lipids and lipoproteins, with increases being seen in low density lipoprotein (LDL) cholesterol and triglycerides, and decreases in high density lipoprotein (HDL) cholesterol. There is a reduction in insulin secretion and elimination, but increases in insulin resistance eventually result in increasing circulating insulin levels. There are changes in body fat distribution with accumulation in central and visceral fat which links to the other adverse metabolic changes. There is an increase in the incidence of hypertension and of type 2 diabetes mellitus, both major risk factors for CHD. Oestrogens have potent effects on blood vessels and their loss leads to dysfunction of the vascular endothelium. All of these changes result from loss of ovarian function contributing to the increased development of CHD. Risk factor assessment in perimenopausal women is recommended, thereby permitting the timely introduction of lifestyle, hormonal and therapeutic interventions to modify or reverse these adverse changes.

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