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Preconception

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https://www.readbyqxmd.com/read/28546993/nationwide-genetic-analysis-for-molecularly-unresolved-cystic-fibrosis-patients-in-a-multiethnic-society-implications-for-preconception-carrier-screening
#1
Doron M Behar, Ori Inbar, Michal Shteinberg, Michal Gur, Huda Mussaffi, David Shoseyov, Moshe Ashkenazi, Soliman Alkrinawi, Concetta Bormans, Fahed Hakim, Meir Mei-Zahav, Malena Cohen-Cymberknoh, Adi Dagan, Dario Prais, Ifat Sarouk, Patrick Stafler, Bat El Bar Aluma, Gidon Akler, Elie Picard, Micha Aviram, Ori Efrati, Galit Livnat, Joseph Rivlin, Lea Bentur, Hannah Blau, Eitan Kerem, Amihood Singer
BACKGROUND: Preconception carrier screening for cystic fibrosis (CF) is usually performed using ethnically targeted panels of selected mutations. This has been recently challenged by the use of expanded, ethnically indifferent, pan-population panels. Israel is characterized by genetically heterogeneous populations carrying a wide range of CFTR mutations. To assess the potential of expanding the current Israeli preconception screening program, we sought the subset of molecularly unresolved CF patients listed in the Israeli CF data registry comprising ~650 patients...
May 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28546662/pregnancy-outcome-in-patients-with-solitary-kidney
#2
Vineet V Mishra, Kavita M Mistry, Sakshi S Nanda, Sumesh Choudhary, Rohina Aggarwal, Khushali Gandhi
BACKGROUND: Solitary kidney may be congenital or as a result of nephrectomy. There is a lot of literature available on quality of life in these patients, but there is limited data on pregnancy outcome. OBJECTIVES: To study pregnancy outcome in patients with solitary kidney either congenital or due to nephrectomy. MATERIALS AND METHODS: Study Design This is a retrospective observational study conducted at tertiary health center in Ahmedabad, from 2011 to 2014...
June 2017: Journal of Obstetrics and Gynaecology of India
https://www.readbyqxmd.com/read/28545452/a-simple-fast-and-inexpensive-method-for-mutation-scanning-of-cftr-gene
#3
Juan Emilio Figueredo Lago, Anny Armas Cayarga, Yaimé Josefina González González, Teresa Collazo Mesa
BACKGROUND: Mutation scanning methods in Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene may not distinguish between a Cystic Fibrosis (CF) causing mutation and a benign variant. We have developed a simple and fast method for scanning 14 selected CF-causing mutations which have high frequency in Latin America. METHODS: In a group of 35 samples coming from CF patients previously characterized and using two allele-specific real-time multiplex PCRs targeting wild-type and mutant alleles respectively, we detect the presence of mutations by analyzing the Ct variation...
May 25, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28543445/psoriasis-in-those-planning-a-family-pregnant-or-breast-feeding-the-australasian-psoriasis-collaboration
#4
REVIEW
Marius Rademaker, Karen Agnew, Megan Andrews, Katherine Armour, Chris Baker, Peter Foley, John Frew, Kurt Gebauer, Monisha Gupta, Debra Kennedy, Gillian Marshman, John Sullivan
The Australasian Psoriasis Collaboration has reviewed the evidence for managing moderate to severe psoriasis in those who are pregnant or are breast-feeding, or planning a family. The severity of the psoriasis, associated comorbidities and specific anti-psoriasis treatment, along with other exposures, can have a deleterious effect on pregnancy outcomes. Psoriasis itself increases the risk of preterm and low birthweight babies, along with spontaneous and induced abortions, but no specific birth defects have been otherwise demonstrated...
May 23, 2017: Australasian Journal of Dermatology
https://www.readbyqxmd.com/read/28541281/revisiting-the-prevalence-of-nonclassic-congenital-adrenal-hyperplasia-in-us-ashkenazi-jews-and-caucasians
#5
Fady Hannah-Shmouni, Rachel Morissette, Ninet Sinaii, Meredith Elman, Toni R Prezant, Wuyan Chen, Ann Pulver, Deborah P Merke
PurposeNonclassic 21-hydroxylase deficiency, a mild form of congenital adrenal hyperplasia (CAH), is estimated to be the most common autosomal recessive condition, with an especially high prevalence in Ashkenazi Jews (3.7% affected, 30.9% carriers), based on a 1985 HLA-B linkage study of affected families. Affected individuals, especially women, may suffer from hyperandrogenism and infertility. State-of-the-art genetic studies have not been done to confirm these remarkable rates.MethodsCYP21A2 genotyping was performed in 200 unrelated healthy Ashkenazi Jewish subjects and 200 random US Caucasians who did not self-identify as a specific ethnicity using multiplex minisequencing, real-time polymerase chain reaction and junction site analysis...
May 25, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28533154/preconception-and-prenatal-genetic-counselling
#6
REVIEW
Adonis S Ioannides
Identifying individuals at risk of having children affected by genetic conditions or congenital anomalies allows counselling that aims to inform reproductive decisions. This process takes place either at the preconception or early prenatal stage, although more options are available if risks are identified before the pregnancy. Preconception counselling covers issues that can affect the health of the mother and baby including folic acid supplementation. Carrier screening for autosomal recessive diseases, such as beta thalassaemia, has resulted in a significantly reduced incidence in many countries...
April 21, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28532720/the-dietary-composition-of-women-who-delivered-preterm-and-full-term-infants
#7
Wioletta Waksmańska, Rafał Bobiński, Izabela Ulman-Włodarz, Anna Pielesz, Monika Mikulska
OBJECTIVES: Literature data show that excess and primary deficiency in particular nutrients, vitamins and minerals may lead to pre-eclampsia, gestational diabetes, hypertension and neural tube defects in the foetus. The aim of the study was to determine differences in average daily consumption of selected nutrients during pregnancy in women who did not supplement their diet and to evaluate the influence of dietary habits on the occurrence of pre-term delivery and hypertension in pregnant women...
June 2017: Applied Nursing Research: ANR
https://www.readbyqxmd.com/read/28526520/preconception-care-among-low-risk-mothers-in-a-french-perinatal-network-frequency-of-utilization-and-factors-associated
#8
Sabrina Paradis, Anne Ego, Jean-Luc Bosson
OBJECTIVE: Determine the frequency of preconception care use in France and factors impacting preconception visit. MATERIALS AND METHODS: An epidemiological study was conducted from September 2015 to October 2015 in 5 maternity hospitals within the "Alpes-Isère" perinatal network, comprising of French-speaking women, with uncomplicated pregnancies, who delivered a healthy term baby (≥ 37 weeks of gestational age). Two groups were compared: patients with and without preconception care...
May 16, 2017: J Gynecol Obstet Hum Reprod
https://www.readbyqxmd.com/read/28524740/identifying-risk-factors-for-late-onset-50-alcohol-use-disorder-and-heavy-drinking-a-systematic-review
#9
Jakob Emiliussen, Anette Søgaard Nielsen, Kjeld Andersen
This systematic review seeks to expand the description and understanding of late-onset AUD and asks "Which risk factors have been reported for late-onset heavy drinking and AUD?" METHOD: Using PRISMA guidelines, a literature review and search was performed on May 19, 2015 using the following databases: MEDLINE, EMBASE, PubMed, and PsychInfo. Nine studies were included in the final review. RESULTS: The search revealed that only very few studies have been conducted...
May 19, 2017: Substance Use & Misuse
https://www.readbyqxmd.com/read/28521194/preconception-care-for-women-with-type-2-diabetes-mellitus-a-mixed-methods-study-of-provider-knowledge-and-practice
#10
J Klein, J A Boyle, R Kirkham, C Connors, C Whitbread, J Oats, F Barzi, D McIntyre, I Lee, M Luey, J Shaw, A D H Brown, L J Maple-Brown
AIMS: Preconception care may decrease adverse pregnancy outcomes associated with pre-existing diabetes mellitus. Aboriginal Australians are at high risk of type 2 diabetes mellitus (T2DM), with earlier onset. We explored practitioner views on preconception care delivery for women with T2DM in the Northern Territory, where 31% of births are to Aboriginal women. METHODS: Mixed-methods study including cross-sectional survey of 156 health practitioners and 11 semi-structured interviews...
May 5, 2017: Diabetes Research and Clinical Practice
https://www.readbyqxmd.com/read/28520809/antenatal-coffee-and-tea-consumption-and-the-effect-on-birth-outcome-and-hypertensive-pregnancy-disorders
#11
Timothy van der Hoeven, Joyce L Browne, Cuno S P M Uiterwaal, Cornelis K van der Ent, Diederick E Grobbee, Geertje W Dalmeijer
BACKGROUND AND OBJECTIVE: Coffee and tea are commonly consumed during pregnancy. While several of their components, like caffeine, have strong pharmacological effects, the effect on the unborn fetus remains unclear. Caffeine intake has been associated with abortion, preterm birth and fetal growth restriction, but a general consensus on caffeine restriction is still lacking. We aimed to investigate antenatal coffee, tea and caffeine consumption and the effect on birth weight and length, gestational age at birth and hypertensive disorders in pregnancy...
2017: PloS One
https://www.readbyqxmd.com/read/28515209/for-a-healthier-future-a-virtuous-cycle-for-reducing-exposure-to-persistent-organic-pollutants
#12
REVIEW
Chisato Mori, Emiko Todaka
In the modern society, people are exposed to various pollutants during their lifetime. Worldwide, the status of children's health has changed in recent decades. Some studies have attempted to identify the causes of these changes and whether they relate to pollutant exposure; however, such attempts have faced major challenges because human life is complex, involving many social and environmental factors. Several long-term cohort studies are being conducted to determine the relationship between diseases and social and environmental factors in children...
May 17, 2017: Journal of Epidemiology and Community Health
https://www.readbyqxmd.com/read/28514919/periconceptional-cmv-infection-prevention-in-portugal-population-subgroup-study-in-a-tertiary-perinatal-care-center
#13
Patrícia Sousa, Gabriel Madureira, Marina Moucho, Ana Lídia Sampaio-Dias, Nuno Montenegro
Currently in Portugal, universal screening of pregnant women for Cytomegalovirus (CMV) infection is not performed. However, it is recommended to screen all women attending preconception care. We aimed to assess women's attendance to preconception care and if their serologic status regarding CMV was known and/or investigated in that consultation. In this cross-sectional study, we interviewed 240 women admitted to the obstetrical ward of a hospital in the Metropolitan Area of Porto (Portugal) about their adherence to preconception care and collected data regarding their CMV serologic status and its investigation...
May 17, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28512513/using-a-concept-inventory-to-reveal-student-thinking-associated-with-common-misconceptions-about-antibiotic-resistance
#14
Ann M Stevens, Ann C Smith, Gili Marbach-Ad, Sarah A Balcom, John Buchner, Sandra L Daniel, Jeffrey J DeStefano, Najib M El-Sayed, Kenneth Frauwirth, Vincent T Lee, Kevin S McIver, Stephen B Melville, David M Mosser, David L Popham, Birgit E Scharf, Florian D Schubot, Richard W Seyler, Patricia Ann Shields, Wenxia Song, Daniel C Stein, Richard C Stewart, Katerina V Thompson, Zhaomin Yang, Stephanie A Yarwood
Misconceptions, also known as alternate conceptions, about key concepts often hinder the ability of students to learn new knowledge. Concept inventories (CIs) are designed to assess students' understanding of key concepts, especially those prone to misconceptions. Two-tiered CIs include prompts that ask students to explain the logic behind their answer choice. Such two-tiered CIs afford an opportunity for faculty to explore the student thinking behind the common misconceptions represented by their choice of a distractor...
April 2017: Journal of Microbiology & Biology Education: JMBE
https://www.readbyqxmd.com/read/28511688/predictors-of-adherence-to-micronutrient-supplementation-before-and-during-pregnancy-in-vietnam
#15
Ines Gonzalez-Casanova, Phuong Hong Nguyen, Melissa Fox Young, Kimberly B Harding, Greg Reinhart, Hieu Nguyen, Meredith Nechitillo, Truong V Truong, Hoa Pham, Son Nguyen, Lynnette M Neufeld, Reynaldo Martorell, Usha Ramakrishnan
BACKGROUND: Poor adherence to micronutrient supplementation often limits the effectiveness of public health programs. While predictors of adherence to micronutrient supplementation during pregnancy are well documented, information on adherence to preconception supplements is scarce. The objective of this study was to describe the predictors of adherence to preconception and prenatal micronutrient supplementation among women participating in a randomized control trial in Vietnam. METHODS: Adherence data were collected prospectively from a double blind randomized controlled trial in rural Vietnam...
May 16, 2017: BMC Public Health
https://www.readbyqxmd.com/read/28507637/factors-influencing-antenatal-haematinics-prescription-behaviour-of-physicians-in-calabar-nigeria
#16
Ubong Akpan, Thomas Agan, Emmanuel Monjok, Chinedu Okpara, Saturday Etuk
BACKGROUND: Routine iron and folic acid supplementation in pregnancy have been proved to be effective in reducing the prevalence and morbidities of anaemia. However, there is limited data regarding the prescription habits of physician obstetric care givers. AIM: This study set to investigate the attitudes and factors which influence the practice among physicians in University of Calabar Teaching Hospital (UCTH). MATERIAL AND METHODS: A questionnaire based cross-sectional survey was conducted among randomly recruited physician offering antenatal services between August and September 2015...
April 15, 2017: Open Access Macedonian Journal of Medical Sciences
https://www.readbyqxmd.com/read/28502606/provider-perspectives-regarding-resuscitation-decisions-for-neonates-and-other-vulnerable-patients
#17
Amélie Dupont-Thibodeau, Jade Hindié, Claude Julie Bourque, Annie Janvier
OBJECTIVES: To use structured surveys to assess the perspectives of pediatric residents and neonatal nurses on resuscitation decisions for vulnerable patients, including neonates. STUDY DESIGN: Pediatric providers were surveyed using scenarios for 6 critically ill patients of different ages with outcomes explicitly described. Providers were asked (1) whether resuscitation was in each patient's best interest; (2) whether they would accept families' wishes for comfort care (no resuscitation); and (3) to rank patients in order of priority for resuscitation...
May 11, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28501235/women-s-health-pregnancy-and-conception
#18
REVIEW
Judith Cuneo
Preconception is an ideal time to assist women contemplating pregnancy to modify health behaviors. Dietary needs in pregnancy are critical and may require supplementation. The use of mind-body medicine in the antenatal period assists patients in childbirth preparation. Integrative medicine techniques can be safely and effectively used for common third-trimester obstetric complications of pregnancy.
June 2017: Primary Care
https://www.readbyqxmd.com/read/28495266/maternal-pre-pregnancy-infection-with-hepatitis-b-virus-and-the-risk-of-preterm-birth-a-population-based-cohort-study
#19
Jue Liu, Shikun Zhang, Min Liu, Qiaomei Wang, Haiping Shen, Yiping Zhang
BACKGROUND: Preterm birth is the leading cause of child death in children younger than 5 years. Large cohort studies in developed countries have shown that maternal hepatitis B virus infection is associated with preterm birth, but there is little reliable evidence from China and other developing countries, where hepatitis B virus prevalence is intermediate or high. Hence, we designed this study to investigate the association between pre-pregnancy hepatitis B virus infection and risk of preterm and early preterm birth...
June 2017: Lancet Global Health
https://www.readbyqxmd.com/read/28492530/a-comprehensive-strategy-for-exome-based-preconception-carrier-screening
#20
Suzanne C E H Sallevelt, Bart de Koning, Radek Szklarczyk, Aimee D C Paulussen, Christine E M de Die-Smulders, Hubert J M Smeets
PURPOSE: Whole-exome sequencing (WES) provides the possibility of genome-wide preconception carrier screening (PCS). Here, we propose a filter strategy to rapidly identify the majority of relevant pathogenic mutations. METHODS: Our strategy was developed using WES data from eight consanguineous and five fictive nonconsanguineous couples and was subsequently applied to 20 other fictive nonconsanguineous couples. Presumably pathogenic variants based on frequency and database annotations or generic characteristics and mutation type were selected in genes shared by the couple and in the female's X-chromosome...
May 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
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