keyword
https://read.qxmd.com/read/32767732/identification-of-a-novel-pathogenic-variant-in-the-myh3-gene-in-a-five-generation-family-with-cpsfs1a-contractures-pterygia-and-spondylocarpotarsal-fusion-syndrome-1a
#1
Jing Zhang, Wen-Qi Chen, Si-Wen Wang, Shao-Xiong Wang, Mei Yu, Qing Guo, Ya-Dong Yu
BACKGROUND: Distal arthrogryposis (DA) is a group of rare Mendelian conditions that demonstrate heterogeneity with respect to genetics and phenotypes. Ten types of DAs, which collectively involve six genes, have been reported. Among them, the MYH3 gene causes several types of arthrogryposis conditions and therefore has a pivotal role in the skeletal and muscle development of the fetus. For this study, we recruited a five-generation Chinese family with members presenting DA features and phenotypic variability...
August 7, 2020: Molecular Genetics & Genomic Medicine
https://read.qxmd.com/read/32767668/long-term-effects-of-the-nine-item-list-intervention-on-obstetric-and-neonatal-outcomes-in-robson-group-1-a-time-series-study
#2
Eric Hildebrand, Marie Nelson, Marie Blomberg
INTRODUCTION: The nine-item list, with organizational and cultural changes, was implemented at the delivery unit in Linköping, Sweden between 2007 and 2010, aiming at improving the quality of care by offering more women a safe and attractive vaginal delivery. The target group for the intervention was nulliparous women at term with spontaneous onset of labor and cephalic presentation (Robson group 1). The aim of this study was to evaluate pregnancy outcomes before, during, early post and late post introduction of the nine-item list...
August 7, 2020: Acta Obstetricia et Gynecologica Scandinavica
https://read.qxmd.com/read/32767659/dna-in-extracellular-vesicles-biological-and-clinical-aspects
#3
REVIEW
Julia Elzanowska, Christine Semira, Bruno Costa-Silva
The study of extracellular vesicles (EVs), especially in the liquid biopsy field, has rapidly evolved in recent years. However, most EV studies have focused on RNA or protein content and DNA in EVs (EV-DNA) has largely been unnoticed. In this review, we compile current evidence regarding EV-DNA and provide an extensive discussion on EV-DNA biology. We look into EV-DNA biogenesis and mechanisms of DNA loading into EVs, as well as describe the particularly significant function of DNA-carrying EVs in the maintenance of cellular homeostasis, intracellular communication, and immune response modulation...
August 7, 2020: Molecular Oncology
https://read.qxmd.com/read/32767637/the-maternal-brain-region-specific-patterns-of-brain-aging-are-traceable-decades-after-childbirth
#4
Ann-Marie G de Lange, Claudia Barth, Tobias Kaufmann, Melis Anatürk, Sana Suri, Klaus P Ebmeier, Lars T Westlye
Pregnancy involves maternal brain adaptations, but little is known about how parity influences women's brain aging trajectories later in life. In this study, we replicated previous findings showing less apparent brain aging in women with a history of childbirths, and identified regional brain aging patterns linked to parity in 19,787 middle- and older-aged women. Using novel applications of brain-age prediction methods, we found that a higher number of previous childbirths were linked to less apparent brain aging in striatal and limbic regions...
August 7, 2020: Human Brain Mapping
https://read.qxmd.com/read/32767610/in-utero-opioid-exposure-and-risk-of-infections-in-childhood-a-multinational-nordic-cohort-study
#5
Milada Mahic, Sonia Hernandez-Diaz, Mollie Wood, Helle Kieler, Ingvild Odsbu, Mette Nørgaard, Buket Öztürk, Brian T Bateman, Vidar Hjellvik, Svetlana Skurtveit, Marte Handal
PURPOSE: There is an increasing number of children with in utero exposure to opioids. Knowledge about opioid safety in pregnancy, particularly for outcomes later in childhood is scarce. It has been suggested that opioids can modulate immune system and increase the risk of infections. Our goal was to study the impact of in utero opioid exposure on the immune system and the risk of infections in childhood. METHODS: This population-based cohort study used nationwide registers from Denmark, Norway, and Sweden...
August 7, 2020: Pharmacoepidemiology and Drug Safety
https://read.qxmd.com/read/32767300/influence-of-sonographic-fetal-weight-estimation-inaccuracies-in-macrosomia-on-perinatal-outcome
#6
Jutta Pretscher, Sven Kehl, Patrick Stelzl, Florian Matthias Stumpfe, Andreas Mayr, Matthias Schmid, Christian Staerk, Ralf Schild, Matthias W Beckmann, Florian Faschingbauer
OBJECTIVE:  To evaluate the influence of inaccurate sonographic fetal weight estimation in macrosomia on the mode of delivery and neonatal outcome (NO). METHODS:  In 14 633 pregnancies between 2002 and 2016, this retrospective study evaluated the association between sonographic fetal weight estimation, true birth weight (BW), mode of delivery (primary cesarean section [pCS], secondary cesarean section, vaginal delivery, and operative vaginal delivery rates) and NO parameters (5-min Apgar < 7, pH < 7...
August 6, 2020: Ultraschall in der Medizin
https://read.qxmd.com/read/32767246/strategic-supplementation-of-antioxidant-micronutrients-in-peri-parturient-murrah-buffaloes-helps-augment-the-udder-health-and-milk-production
#7
Himanshu Pratap Singh, Ravindra Kumar Jain, Divya Tiwari, Mukesh Kumar Mehta, Vishal Mudgal
The experiment was conducted to study the effect of supplementation of designer dietary antioxidant micronutrients on udder health, milk yield, and its quality in buffaloes under field conditions. Sixteen healthy multiparous advanced pregnant graded Murrah buffaloes (around the last 3 months of gestation), identical in body weights, parity, and feeding conditions, were selected for the study. Feed offered and residues left of an individual animal were measured and recorded for 7 consecutive days with the sampling of feeds being offered to buffaloes and analyzed for dry matter and trace minerals Zn, Cu, and Se...
August 7, 2020: Biological Trace Element Research
https://read.qxmd.com/read/32767217/ouabain-protects-nephrogenesis-in-rats-experiencing-intrauterine-growth-restriction-and-partially-restores-renal-function-in-adulthood
#8
Liang Chen, Jing Yue, Shulin Zhou, Yali Hu, Juan Li
Intrauterine growth restriction (IUGR) is, in general, accompanied by a reduction of the nephron number, which increases the risk of hypertension and renal dysfunction. Studies have revealed that ouabain can partially restore the number of nephrons during IUGR. However, there is limited information regarding the melioration of nephric structure and function. We used maternal malnutrition to induce an IUGR model in rats. Subsequently, we used a mini-pump to administer ouabain to IUGR rats during pregnancy. Male offspring were divided randomly into two groups...
August 7, 2020: Reproductive Sciences
https://read.qxmd.com/read/32767206/does-coenzyme-q-10-supplementation-improve-fertility-outcomes-in-women-undergoing-assisted-reproductive-technology-procedures-a-systematic-review-and-meta-analysis-of-randomized-controlled-trials
#9
REVIEW
Panagiota Florou, Panagiotis Anagnostis, Patroklos Theocharis, Michail Chourdakis, Dimitrios G Goulis
OBJECTIVE: Increased oxidative stress has been identified as a pathogenetic mechanism in female infertility. However, the effect of specific antioxidants, such as coenzyme Q10 (CoQ10 ), on the outcomes after assisted reproductive technologies (ART) has not been clarified. The aim of this study was to systematically review and meta-analyze the best available evidence regarding the effect of CoQ10 supplementation on clinical pregnancy (CPR), live birth (LBR), and miscarriage rates (MR) compared with placebo or no-treatment in women with infertility undergoing ART...
August 7, 2020: Journal of Assisted Reproduction and Genetics
https://read.qxmd.com/read/32767204/association-between-early-embryo-morphokinetics-plus-transcript-levels-of-sperm-apoptotic-genes-and-clinical-outcomes-in-imsi-and-icsi-cycles-of-male-factor-patients
#10
Esmat Mangoli, Mohammad Ali Khalili, Ali Reza Talebi, Seyed Mehdi Kalantar, Fatemeh Montazeri, Azam Agharahimi, Bryan J Woodward
PURPOSE: The aim was to assess the correlation of sperm apoptotic transcript levels with cleavage stage embryokinetic and pregnancy outcomes of intracytoplasmic morphologically selected sperm injection (IMSI) and ICSI methods in patients with male factor infertility. MATERIAL AND METHODS: Eighty male factor cases were divided into ICSI and IMSI groups. ICSI was done routinely, and for IMSI, sperm was selected at high magnification and injected. On day 3, time-lapse parameters were evaluated, and the best embryos were transferred and followed to delivery...
August 7, 2020: Journal of Assisted Reproduction and Genetics
https://read.qxmd.com/read/32767192/comparison-of-postprandial-90th-minute-plasma-glucose-level-with-60th-and-120th-minute-levels-in-patients-with-gestational-diabetes-a-prospective-cohort-study
#11
Ozge Sever, Kemal Sarsmaz, A S Ozgu-Erdinc, Aykan Yucel
PURPOSE: The objective of the present study is to compare postprandial 90th-minute plasma glucose measurement with fasting, postprandial 60 and 120 min in gestational diabetes mellitus (GDM). METHODS: One hundred and thirty-one pregnant women with GDM were hospitalized for regulation of maternal plasma glucose levels. Plasma glucose levels were daily recorded for every patient and treatment option arranged without considering the 90th-minute plasma glucose level...
August 7, 2020: Endocrine
https://read.qxmd.com/read/32767150/n-and-o-glycosylation-patterns-and-functional-testing-of-cgb7-versus-cgb3-5-8-variants-of-the-human-chorionic-gonadotropin-hcg-beta-subunit
#12
Karina Biskup, Véronique Blanchard, Paola Castillo-Binder, Henry Alexander, Kurt Engeland, Sindy Schug
The classical function of human chorionic gonadotropin (hCG) is its role in supporting pregnancy. hCG is a dimer consisting of two highly glycosylated subunits, alpha (CGA) and beta (CGB). The beta-hCG protein is encoded by CGB3, CGB5, CGB7 and CGB8 genes. CGB3, 5 and 8 code for an identical protein, CGB3/5/8, whereas CGB7 differs in three amino acids from CGB3/5/8. We had observed earlier that CGB7 and CGB3/5/8 display very distinct tissue expression patterns and that the tumor suppressor and transcription factor p53 can activate expression of CGB7 but not of CGB3/5/8 genes...
August 7, 2020: Glycoconjugate Journal
https://read.qxmd.com/read/32767123/the-role-of-prenatal-and-perinatal-factors-in-eating-disorders-a-systematic-review
#13
REVIEW
Enrica Marzola, Fabio Cavallo, Matteo Panero, Alain Porliod, Laura Amodeo, Giovanni Abbate-Daga
Numerous studies showed that factors influencing fetal development and neonatal period could lead to lasting alterations in the brain of the offspring, in turn increasing the risk for eating disorders (EDs). This work aims to systematically and critically review the literature on the association of prenatal and perinatal factors with the onset of EDs in the offspring, updating previous findings and focusing on anorexia nervosa (AN) and bulimia nervosa (BN). A systematic literature search was performed on Pubmed, PsycINFO, and Scopus...
August 7, 2020: Archives of Women's Mental Health
https://read.qxmd.com/read/32766925/successful-ovarian-stimulation-and-pregnancy-in-an-infertile-woman-with-chronic-myeloid-leukemia
#14
Silvina J Rios, Lorena Martínez-Montesinos, Cristina Aroca, Raul Teruel-Montoya, Francisca Ferrer-Marín
BACKGROUND: Tyrosine kinase inhibitors (TKI) treatment has transformed chronic myeloid leukemia (CML) from a fatal neoplasm to a chronic disease with normal life expectancies. Indeed, half of CML patients are able to discontinue TKI without relapse. However, it seems clearly demonstrated that exposure to TKI may result in fetal malformations. Regarding its effects on fertility, preclinical studies and clinical case reports provide inconclusive evidence. Furthermore, due to the risk of CML relapse after TKI discontinuation, the optimal time to stop TKI represents a real dilemma...
August 6, 2020: Journal of Assisted Reproduction and Genetics
https://read.qxmd.com/read/32766851/expanding-our-understanding-of-ovarian-cancer-risk-the-role-of-incomplete-pregnancies
#15
Alice W Lee, Stacey Rosenzweig, Ashley Wiensch, Susan J Ramus, Usha Menon, Aleksandra Gentry-Maharaj, Argyrios Ziogas, Hoda Anton-Culver, Alice S Whittemore, Weiva Sieh, Joseph H Rothstein, Valerie McGuire, Nicolas Wentzensen, Elisa V Bandera, Bo Qin, Kathryn L Terry, Daniel W Cramer, Linda Titus, Joellen M Schildkraut, Andrew Berchuck, Ellen L Goode, Susanne K Kjaer, Allan Jensen, Susan J Jordan, Roberta B Ness, Francesmary Modugno, Kirsten Moysich, Pamela J Thompson, Marc T Goodman, Michael E Carney, Jenny Chang-Claude, Mary Anne Rossing, Holly R Harris, Jennifer Anne Doherty, Harvey A Risch, Lilah Khoja, Aliya Alimujiang, Minh Tung Phung, Katharine Brieger, Bhramar Mukherjee, Paul D P Pharoah, Anna H Wu, Malcolm C Pike, Penelope M Webb, Celeste Leigh Pearce
BACKGROUND: Parity is associated with decreased risk of invasive ovarian cancer; however, the relationship between incomplete pregnancies and invasive ovarian cancer risk is unclear. This relationship was examined using 15 case-control studies from the Ovarian Cancer Association Consortium (OCAC). Histotype-specific associations, which have not been examined previously with large sample sizes, were also evaluated. METHODS: A pooled analysis of 10,470 invasive epithelial ovarian cancer cases and 16,942 controls was conducted...
August 7, 2020: Journal of the National Cancer Institute
https://read.qxmd.com/read/32766841/early-life-exposure-to-nicotine-postnatal-metabolic-neurobehavioral-and-metabolic-outcomes-and-the-development-of-childhood-cancers
#16
Laiba Jamshed, Genevieve A Perono, Shanza Jamshed, Alison C Holloway
Cigarette smoking during pregnancy is associated with numerous obstetrical, fetal and developmental complications, as well as an increased risk of adverse health consequences in the adult offspring. Nicotine replacement therapy (NRT) and electronic nicotine delivery systems (e-cigarettes) have been developed as a pharmacotherapy for smoking cessation and are considered safer alternatives for women to smoke during pregnancy. The safety of NRT use during pregnancy has been evaluated in a limited number of short-term human trials, but there is currently no information on the long-term effects of developmental nicotine exposure in humans...
August 7, 2020: Toxicological Sciences: An Official Journal of the Society of Toxicology
https://read.qxmd.com/read/32766824/a-pediatric-infectious-disease-perspective-on-covid-19
#17
Ellen R Wald, Kathryn M Schmit, Daniele Y Gusland
This review highlights the clinical and epidemiologic characteristics of COVID-19 in children and neonates and contrasts these features with other common respiratory viruses. Although the majority of infections in children are mild, there are many important, as yet, unanswered questions (specifically, the attack rate in children and the role of children as vectors of infection), that will have a major impact on disease in adults. There are no distinctive clinical characteristics that will allow the infectious disease consultant to make the diagnosis without laboratory testing...
August 7, 2020: Clinical Infectious Diseases
https://read.qxmd.com/read/32766767/pertussis-infections-among-pregnant-women-in-the-united-states-2012-2017
#18
T H Skoff, A E Faulkner, J L Liang, M Barnes, K Kudish, E Thomas, C Kenyon, M Hoffman, E Pradhan, J Liko, S Hariri
BACKGROUND: Little is known about pertussis among pregnant women, a population at increased risk for severe morbidity from respiratory infections such as influenza. We used CDC's Enhanced Pertussis Surveillance (EPS) system to describe pertussis epidemiology among pregnant and non-pregnant women of childbearing age. METHODS: Pertussis cases in women aged 18-44 years with cough onset between 1/1/2012-12/31/2017 were identified in 7 EPS states. Surveillance data were collected through patient and provider interview and immunization registries...
August 7, 2020: Clinical Infectious Diseases
https://read.qxmd.com/read/32766758/hypertensive-disorders-in-pregnancy-and-timing-of-pubertal-development-in-daughters-and-sons
#19
Lea Lykke Harrits Lunddorf, Nis Brix, Andreas Ernst, Linn H Arendt, Henrik Støvring, Pernille J Clemmensen, Jørn Olsen, Cecilia H Ramlau-Hansen
STUDY QUESTION: Do maternal hypertensive disorders affect pubertal development in daughters and sons? SUMMARY ANSWER: Pubertal development tended to occur earlier in daughters of mothers with 'preeclampsia, eclampsia or HELLP syndrome' (hemolysis, elevated liver enzymes and low blood platelets) or hypertension in pregnancy compared to daughters born of normotensive mothers. WHAT IS KNOWN ALREADY: The existing literature suggests some or no association between preeclampsia and pubertal development in daughters, but not in sons...
August 7, 2020: Human Reproduction
https://read.qxmd.com/read/32766751/maternal-dietary-intake-of-fish-and-pufas-and-child-neurodevelopment-at-6-months-and-1-year-of-age-a-nationwide-birth-cohort-the-japan-environment-and-children-s-study-jecs
#20
Kei Hamazaki, Kenta Matsumura, Akiko Tsuchida, Haruka Kasamatsu, Tomomi Tanaka, Mika Ito, Hidekuni Inadera
BACKGROUND: Although emerging evidence indicates a relation between maternal intake of fish and improved child neurodevelopment, the results are inconsistent. OBJECTIVES: This study investigated whether dietary consumption of fish during pregnancy is associated with offspring neurodevelopment at age 6 mo and 1 y. As exploratory research, we also examined the association between consumption of PUFAs and neurodevelopment at the same time points. METHODS: After exclusion and multiple imputation from a dataset comprising 104,065 records from the Japan Environment and Children's Study, we evaluated 81,697 and 77,751 mother-child pairs at age 6 mo and 1 y, respectively...
August 7, 2020: American Journal of Clinical Nutrition
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