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https://www.readbyqxmd.com/read/29341518/harlequin-ichthyosis-a-case-report
#1
C H Ugezu, A Mazumdar, E Dunn, A Das
Harlequin Ichthyosis is a very rare genetic disorder affecting mainly the skin with severe morbidity and mortality. It affects both sexes with incidence of about 1 in 300,000 live births. Autosomal recessive inheritance has been inferred with mutation in ABCA 12 gene identified. Hence, genetic counseling and mutation screening of this gene should be considered in at-risk patients. Death usually occurred in the first 3 months of life due to sepsis, feeding problems and respiratory distress. With improved neonatal care and early introduction of retinoids, its survival rate has increased...
August 8, 2017: Irish Medical Journal
https://www.readbyqxmd.com/read/29341340/bias-from-restricting-to-live-births-when-estimating-effects-of-prescription-drug-use-on-pregnancy-complications-a-simulation
#2
Elizabeth A Suarez, Suzanne N Landi, Mitchell C Conover, Michele Jonsson Funk
PURPOSE: Administrative claim databases are increasingly being used to study the safety of medication exposures during pregnancy. These studies are restricted to live births due to a reliance on algorithms for estimating gestational age that are based on codes associated with live delivery. Conditioning on live birth may induce selection bias when studying the effect of a drug on a pregnancy complication if fetal death is a competing risk for the complication or is caused by the complication...
January 17, 2018: Pharmacoepidemiology and Drug Safety
https://www.readbyqxmd.com/read/29341296/the-five-year-survival-of-children-with-down-syndrome-in-norway-1994-2009-differed-by-associated-congenital-heart-defects-and-extracardiac-malformations
#3
Kristoffer Brodwall, Gottfried Greve, Elisabeth Leirgul, Kari Klungsøyr, Henrik Holmstrøm, Stein Emil Vollset, Nina Øyen
AIM: We investigated the prevalence of Down syndrome in a nationwide birth cohort, focusing on congenital heart defects, their associations with extracardiac malformations, and survival. METHODS: National registers were used to identify Norwegian births (1994-2009) and deaths (1994-2014) and updated with hospital diagnoses. We estimated birth defect frequencies in Down syndrome and the general population, the association between heart defects and extracardiac malformations and hazard ratios for death from different combinations of heart defects and extracardiac malformations...
January 17, 2018: Acta Paediatrica
https://www.readbyqxmd.com/read/29340577/lactation-duration-and-progression-to-diabetes-in-women-across-the-childbearing-years-the-30-year-cardia-study
#4
Erica P Gunderson, Cora E Lewis, Ying Lin, Mike Sorel, Myron Gross, Stephen Sidney, David R Jacobs, James M Shikany, Charles P Quesenberry
Importance: Lactation duration has shown weak protective associations with incident diabetes (3%-15% lower incidence per year of lactation) in older women based solely on self-report of diabetes, studies initiated beyond the reproductive period are vulnerable to unmeasured confounding or reverse causation from antecedent biochemical risk status, perinatal outcomes, and behaviors across the childbearing years. Objective: To evaluate the association between lactation and progression to diabetes using biochemical testing both before and after pregnancy and accounting for prepregnancy cardiometabolic measures, gestational diabetes (GD), and lifestyle behaviors...
January 16, 2018: JAMA Internal Medicine
https://www.readbyqxmd.com/read/29339565/a-home-visiting-parenting-program-and-child-obesity-a-randomized-trial
#5
Monica Roosa Ordway, Lois S Sadler, Margaret L Holland, Arietta Slade, Nancy Close, Linda C Mayes
BACKGROUND: Young children living in historically marginalized families are at risk for becoming adolescents with obesity and subsequently adults with increased obesity-related morbidities. These risks are particularly acute for Hispanic children. We hypothesized that the prevention-focused, socioecological approach of the "Minding the Baby" (MTB) home visiting program might decrease the rate of childhood overweight and obesity early in life. METHODS: This study is a prospective longitudinal cohort study in which we include data collected during 2 phases of the MTB randomized controlled trial...
January 16, 2018: Pediatrics
https://www.readbyqxmd.com/read/29338857/obstetric-complications-after-frozen-versus-fresh-embryo-transfer-in-women-with-polycystic-ovary-syndrome-results-from-a-randomized-trial
#6
Bo Zhang, Daimin Wei, Richard S Legro, Yuhua Shi, Jing Li, Lin Zhang, Yan Hong, Gang Sun, Ting Zhang, Weiping Li, Zi-Jiang Chen
OBJECTIVE: To evaluate the effect of frozen embryo transfer on maternal and neonatal complications of singleton and twin pregnancies compared with fresh embryo transfer in women with polycystic ovary syndrome (PCOS). DESIGN: A secondary analysis of a multicenter, randomized, controlled trial comparing live birth after frozen vs. fresh embryo transfer (FreFro-PCOS). SETTING: Reproductive medicine centers. PATIENT(S): A total of 1,508 patients with a diagnosis of PCOS who were undergoing IVF were enrolled...
January 12, 2018: Fertility and Sterility
https://www.readbyqxmd.com/read/29338855/vitrified-blastocyst-transfer-cycles-with-the-use-of-only-vaginal-progesterone-replacement-with-endometrin-have-inferior-ongoing-pregnancy-rates-results-from-the-planned-interim-analysis-of-a-three-arm-randomized-controlled-noninferiority-trial
#7
Kate Devine, Kevin S Richter, Eric A Widra, Jeffrey L McKeeby
OBJECTIVE: To assess the noninferiority of vaginal P (Endometrin) compared with daily intramuscular P for replacement in programmed vitrified-warmed blastocyst transfer cycles and to assess the noninferiority of vaginal P in combination with intramuscular progesterone every third day compared with daily intramuscular P. DESIGN: Three-arm randomized controlled noninferiority study. To enable early recognition of inferiority if present, an a priori interim analysis was planned and completed once ongoing pregnancy data were available for 50% of the total enrollment goal...
January 12, 2018: Fertility and Sterility
https://www.readbyqxmd.com/read/29338854/long-term-outcomes-in-cancer-patients-who-did-or-did-not-pursue-fertility-preservation
#8
Molly B Moravek, Rafael Confino, Kristin N Smith, Ralph R Kazer, Susan C Klock, Angela K Lawson, William J Gradishar, Mary Ellen Pavone
OBJECTIVE: To compare long-term outcomes of cancer patients who pursued fertility preservation (FP) with those who did not and compare random-start (RS) and menstrual cycle-specific (CS) protocols for FP. DESIGN: Retrospective cohort. SETTING: Single urban academic institution. PATIENT(S): Oncology patients who contacted the FP patient navigator, 2005-2015. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Time to cancer treatment, disease-free survival, and reproductive outcomes in FP versus no-FP patients and cycle outcomes for RS versus CS protocols...
January 12, 2018: Fertility and Sterility
https://www.readbyqxmd.com/read/29338702/estimating-the-scale-of-chronic-hepatitis-c-virus-infection-in-the-eu-eea-a-focus-on-migrants-from-anti-hcv-endemic-countries
#9
A M Falla, A A Ahmad, E Duffell, T Noori, I K Veldhuijzen
BACKGROUND: Increasing the proportion diagnosed with and on treatment for chronic hepatitis C (CHC) is key to the elimination of hepatitis C in Europe. This study contributes to secondary prevention planning in the European Union/European Economic Area (EU/EEA) by estimating the number of CHC (anti-HCV positive and viraemic) cases among migrants living in the EU/EEA and born in endemic countries, defining the most affected migrant populations, and assessing whether country of birth prevalence is a reliable proxy for migrant prevalence...
January 16, 2018: BMC Infectious Diseases
https://www.readbyqxmd.com/read/29338469/assessing-efficacy-of-day-3-embryo-time-lapse-algorithms-retrospectively-impacts-of-dataset-type-and-confounding-factors
#10
Yanhe Liu, Katie Feenan, Vincent Chapple, Phillip Matson
This study investigated the efficacy of four published day 3 embryo time-lapse algorithms based on different types of datasets (known implantation data [KID] and single embryo transfer [SET]), and the confounding effect of female age and conventional embryo morphology. Four algorithms were retrospectively applied to three types of datasets generated at Fertility North between February 2013 and December 2014: (a) KID dataset (n = 270), (b) a subset of SET (n = 144, end-point = implantation), and (c) SET (n = 144, end-point = live birth), respectively...
January 16, 2018: Human Fertility: Journal of the British Fertility Society
https://www.readbyqxmd.com/read/29338081/nonsurgical-premature-menopause-and-reproductive-implications-in-survivors-of-childhood-cancer-a-report-from-the-childhood-cancer-survivor-study
#11
Jennifer M Levine, John A Whitton, Jill P Ginsberg, Daniel M Green, Wendy M Leisenring, Marilyn Stovall, Leslie L Robison, Gregory T Armstrong, Charles A Sklar
BACKGROUND: Survivors of childhood cancer are at risk of nonsurgical premature menopause (NSPM). To the authors' knowledge, risk factors for NSPM and its impact on reproduction remain poorly defined. METHODS: The menopausal status of 2930 survivors diagnosed between 1970 and 1986 (median age, 6 years [range, birth-20 years]) who were aged > 18 years at the time of the current study (median age, 35 years [range, 18-58 years]) was compared with 1399 siblings...
January 16, 2018: Cancer
https://www.readbyqxmd.com/read/29337212/successful-management-of-heterotopic-intramural-pregnancy-leading-to-a-live-birth-of-the-intrauterine-pregnancy
#12
Jiangtao Lyu, Wenjie Sun, Yi Lin
No abstract text is available yet for this article.
January 11, 2018: Journal of Minimally Invasive Gynecology
https://www.readbyqxmd.com/read/29337007/postnatal-post-traumatic-stress-an-integrative-review
#13
Madeleine Simpson, Virginia Schmied, Cathy Dickson, Hannah Grace Dahlen
PROBLEM: Post-traumatic stress disorder and post-traumatic stress symptoms following birth occur amongst a small proportion of women but can lead to poor maternal mental health, impairment in mother-infant bonding and relationship stress. This integrative review aims to examine the associated risk factors and women's own experiences of postnatal post-traumatic stress in order to better understand this phenomenon. METHOD: Fifty three articles were included and critically reviewed using the relevant Critical Appraisal Skills Program checklists or Strengthening the Reporting of Observational studies in Epidemiology assessment tool...
January 11, 2018: Women and Birth: Journal of the Australian College of Midwives
https://www.readbyqxmd.com/read/29336996/follicular-flushing-in-patients-with-poor-ovarian-response-a-systematic-review-and-meta-analysis
#14
REVIEW
Kay Neumann, Georg Griesinger
To evaluate the effect of follicular flushing on clinical outcomes (primary outcome: mean number of COCs) in poor response IVF patients a systematic literature review and meta-analysis was performed. The bibliographic databases OvidMedline (includes Pubmed), Cochrane Library and Web of Science were searched electronically for randomized controlled trials (RCTs) comparing follicular flushing with no flushing. Three RCTs with a total of 210 patients could be included. The mean number of COC did not increase with flushing (weighted mean difference: -0...
December 29, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/29336003/prevalence-of-pre-school-children-for-overweight-obesity-in-turkey
#15
Fatih Santas, Gulcan Santas
BACKGROUND: Most of the studies and interventions are targeted to address undernutrition, but childhood obesity has become a silent killer among children. Developing countries, including Turkey, could recognize the importance of the issue now and have begun to discuss the necessity of studies on this subject. Therefore, this study aims to examine the prevalence of obesity among pre-school children in Turkey. METHODS: The data source of this study is the Turkey Demographic and Health Survey (TDHS)-2013...
January 15, 2018: World Journal of Pediatrics: WJP
https://www.readbyqxmd.com/read/29335812/sperm-telomere-length-in-donor-samples-is-not-related-to-icsi-outcome
#16
Marc Torra-Massana, Montserrat Barragán, Emanuela Bellu, Rafael Oliva, Amelia Rodríguez, Rita Vassena
PURPOSE: Variations in sperm telomere length (STL) have been associated with altered sperm parameters, poor embryo quality, and lower pregnancy rates, but for normozoospermic men, STL relevance in IVF/ICSI is still uncertain. Moreover, in all studies reported so far, each man's STL was linked to the corresponding female partner characteristics. Here, we study STL in sperm donor samples, each used for up to 12 women, in order to isolate and determine the relationship between STL and reproductive outcomes...
January 16, 2018: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/29335024/sex-differences-in-the-late-first-trimester-human-placenta-transcriptome
#17
Tania L Gonzalez, Tianyanxin Sun, Alexander F Koeppel, Bora Lee, Erica T Wang, Charles R Farber, Stephen S Rich, Lauren W Sundheimer, Rae A Buttle, Yii-Der Ida Chen, Jerome I Rotter, Stephen D Turner, John Williams, Mark O Goodarzi, Margareta D Pisarska
BACKGROUND: Development of the placenta during the late first trimester is critical to ensure normal growth and development of the fetus. Developmental differences in this window such as sex-specific variation are implicated in later placental disease states, yet gene expression at this time is poorly understood. METHODS: RNA-sequencing was performed to characterize the transcriptome of 39 first trimester human placentas using chorionic villi following genetic testing (17 females, 22 males)...
January 15, 2018: Biology of Sex Differences
https://www.readbyqxmd.com/read/29335023/early-neonatal-glutaric-aciduria-type-i-hidden-by-perinatal-asphyxia-a-case-report
#18
Giacomo Biasucci, Nicola Morelli, Federica Natacci, Massimo Mastrangelo
BACKGROUND: Perinatal asphyxia (PA) occurs in about 2 to 10 per 1000 live full-term births. Although neonatal epileptic seizures are observed in up to 60% of cases, PA may mimic or subtend other conditions. Hypoxia related brain injury is particularly relevant, as it may have permanent effects on neuropsychomotor development. Antepartum obstetric conditions, may, in turn, lead to hypoxic-ischemic damage to the fetus and the newborn, often underlying PA. Herein, a case of PA that hid and triggered signs and symptoms of Glutaric Aciduria type I (GA-I), is reported...
January 15, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/29334901/monitoring-vaccine-and-non-vaccine-hpv-type-prevalence-in-the-post-vaccination-era-in-women-living-in-the-basilicata-region-italy
#19
Francesca Carozzi, Donella Puliti, Cristina Ocello, Pasquale Silvio Anastasio, Espedito Antonio Moliterni, Emilia Perinetti, Laurence Serradell, Elena Burroni, Massimo Confortini, Paola Mantellini, Marco Zappa, Géraldine Dominiak-Felden
BACKGROUND: A large free-of-charge quadrivalent HPV (qHPV) vaccination program, covering four cohorts annually (women 11, 14, 17 and 24 years), has been implemented in Basilicata since 2007. This study evaluated vaccine and non-vaccine HPV prevalence 5-7 years post-vaccination program implementation in vaccinated and unvaccinated women. METHODS: This population-based, cross-sectional study was conducted in the public screening centers of the Local Health Unit in Matera between 2012 and 2014...
January 15, 2018: BMC Infectious Diseases
https://www.readbyqxmd.com/read/29334203/modeling-in-vitro-fertilization-data-considering-multiple-outcomes-observed-among-iranian-infertile-women
#20
Azadeh Ghaheri, Aliakbar Rasekhi, Reza Omani Samani, Ebrahim Hajizadeh
Background: Women undergoing in vitro fertilization (IVF) cycles should successfully go through multiple points during the procedure (i.e., implantation, clinical pregnancy, no spontaneous abortion and delivery) to achieve live births. In this study, data from multiple cycles and multiple points during the IVF cycle are collected for each individual to model the effects of factors associated with success at different stages of IVF cycles in Iranian infertile women. MATERIALS AND METHODS: This historical cohort study includes 996 assisted reproductive technology (ART) cycles of 511 infertile women...
April 2018: International Journal of Fertility & Sterility
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