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https://www.readbyqxmd.com/read/28105569/the-spectrum-of-niemann-pick-type-c-disease-in-greece
#1
Irene Mavridou, Evangelia Dimitriou, Marie T Vanier, Lluisa Vilageliu, Daniel Grinberg, Philippe Latour, Athina Xaidara, Lilia Lycopoulou, Sevasti Bostantjopoulou, Dimitrios Zafeiriou, Helen Michelakakis
Niemann-Pick type C disease (NPC) is a neurovisceral lysosomal storage disease caused by mutations in either the NPC1 or the NPC2 gene. It is a cellular lipid trafficking disorder characterized by the accumulation of unesterified cholesterol and various sphingolipids in the lysosomes and late endosomes, and it exhibits a broad clinical spectrum. Today, over 420 disease-causing mutations have been identified in the NPC1 and the NPC2 genes. We present the clinical, biochemical, and molecular findings in 14 cases diagnosed in Greece during the last 28 years...
January 20, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28102558/concise-reviews-regeneration-in-mammalian-cochlea-hair-cells-help-from-supporting-cells-transdifferentiation
#2
Bénédicte Franco, Brigitte Malgrange
It is commonly assumed that mammalian cochlear cells do not regenerate. Therefore, if hair cells are lost following an injury, no recovery could occur. However, during the first postnatal week, mice harbor some progenitor cells that retain the ability to give rise to new hair cells. These progenitor cells are in fact supporting cells. Upon hair cells loss, those cells are able to generate new hair cells both by direct transdifferentiation or following cell cycle re-entry and differentiation. However, this property of supporting cells is progressively lost after birth...
January 19, 2017: Stem Cells
https://www.readbyqxmd.com/read/28101838/renal-consequences-of-preterm-birth
#3
REVIEW
Amelie Stritzke, Sumesh Thomas, Harish Amin, Christoph Fusch, Abhay Lodha
BACKGROUND: The developmental origin of health and disease concept identifies the brain, cardiovascular, liver, and kidney systems as targets of fetal adverse programming with adult consequences. As the limits of viability in premature infants have been pushed to lower gestational ages, the long-term impact of prematurity on kidneys still remains a significant burden during hospital stay and beyond. OBJECTIVES: The purpose of this study is to summarize available evidence, mechanisms, and short- and long-term renal consequences of prematurity and identify nephroprotective strategies and areas of uncertainty...
December 2017: Molecular and Cellular Pediatrics
https://www.readbyqxmd.com/read/28099974/temporary-vacuum-assisted-closure-of-the-open-abdomen-in-neonates
#4
Kengo Hattori, Alp Numanoglu, Sharon Cox
Introduction The need for open abdomen in the treatment of severely ill neonates will increase in time as more complex abdominal procedures are undertaken. However, the experience of temporary closure of an open abdomen using vacuum-assisted closure (VAC) system is still relatively limited in premature and term neonates. The aim of this study is to describe and review our experience in the use of temporary VAC of the open abdomen for neonates with varying pathological processes. Materials and Methods A retrospective folder review of all neonates treated with VAC for open abdomen over the study period of 2010 to 2014 at our institution was performed...
January 18, 2017: European Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28099135/mycoplasma-ureaplasma-infection-in-pregnancy-to-screen-or-not-to-screen
#5
Gilbert G G Donders, Kateryna Ruban, Gert Bellen, Ljubomir Petricevic
Mycoplasmata have been linked to pregnancy complications and neonatal risk. While formerly a limited number of species could be discovered by cultures, molecular biology nowadays discovers both lower quantities and more diverse species, making us realize that mycoplasmata are ubiquitous in the vaginal milieu and do not always pose a danger for pregnant women. As the meaning of mycoplasmata in pregnancy is not clear to many clinicians, we summarized the current knowledge about the meaning of different kinds of mycoplasmata in pregnancy and discuss the potential benefits and disadvantages of treatment...
January 18, 2017: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/28096129/current-knowledge-of-necrotizing-enterocolitis-in-preterm-infants-and-the-impact-of-different-types-of-enteral-nutrition-products
#6
REVIEW
Jocelyn Shulhan, Bryan Dicken, Lisa Hartling, Bodil Mk Larsen
Preterm infants are extremely vulnerable to a range of morbidities and mortality. Underdeveloped cardiac, respiratory, gastrointestinal, and immune systems in the preterm period increase the risk of necrotizing enterocolitis (NEC), a serious disease of the gut. NEC affects 5-12% of very-low birth-weight infants, leads to surgery in 20-40% of cases, and is fatal in 25-50% of cases. There are multiple factors that may contribute to NEC, but the exact cause is not yet fully understood. Severe cases can result in intestinal resection or death, and the health care costs average >$300,000/infant when surgical management is required...
January 2017: Advances in Nutrition
https://www.readbyqxmd.com/read/28095707/variations-in-mesothelioma-mortality-rates-among-migrants-to-australia-and-australian-born
#7
Si Si, Susan Peters, Alison Reid
BACKGROUND: Australia's use and consumption of asbestos occurred at the same time as its immigration boom. Our objective was to investigate mesothelioma death rates among migrants and Australian-born between 1981 and 2012. METHODS: Australian national mesothelioma deaths from 1981 to 2002 and 2006 to 2012 together with national censuses from 1981 to 2011 were extracted and combined. Directly standardised rates and negative binomial regression were applied examining differences in mesothelioma death rates with regard to country of birth...
January 17, 2017: Ethnicity & Health
https://www.readbyqxmd.com/read/28092917/is-fat-mass-accretion-of-late-preterm-infants-associated-with-insulin-resistance
#8
Nadia Liotto, Maria Lorella Giannì, Francesca Taroni, Paola Roggero, Chiara Cristiana Condello, Anna Orsi, Camilla Menis, Riccardo Bonfanti, Fabio Mosca
BACKGROUND: Late preterm infants show a major fat mass accretion from birth to term. The contribution of preterm birth to the development of the metabolic syndrome is still under investigation. OBJECTIVES: To evaluate body composition changes in late preterm infants during the first 3 months and to investigate their insulin sensitivity and resistance. METHODS: We conducted an observational, longitudinal study. A total of 216 late preterm infants underwent body composition assessment using an air displacement plethysmograph at term and at 3 months of corrected age...
January 17, 2017: Neonatology
https://www.readbyqxmd.com/read/28092063/appropriate-use-of-progesterone-to-prevent-preterm-birth-approaches-to-measurement-for-driving-improvement
#9
Priya Batra, Ashley Hirai, Sabrina Selk, Vanessa Lee, Michael Lu
Introduction Despite strong evidence supporting the benefit of 17-alpha hydroxyprogesterone caproate (17P) in preventing recurrent preterm birth, this treatment still does not reach most eligible patients. This study sought to identify approaches to measuring the appropriate use of 17P, with the goal of helping health systems better monitor and improve the implementation of this intervention. Methods Semi-structured telephone interviews were used to gather data on measures for 17P use being developed and implemented by state team members participating in the Infant Mortality Collaborative Improvement and Innovation Network (IM CoIIN)-a national quality improvement initiative...
January 16, 2017: Maternal and Child Health Journal
https://www.readbyqxmd.com/read/28092059/the-effects-of-race-and-ethnicity-on-the-risk-of-large-for-gestational-age-newborns-in-women-without-gestational-diabetes-by-prepregnancy-body-mass-index-categories
#10
Nhial T Tutlam, Yun Liu, Erik J Nelson, Louise H Flick, Jen Jen Chang
Objectives Children born large for gestational age (LGA) are at risk of numerous adverse outcomes. While the racial/ethnic disparity in LGA risk has been studied among women with Gestational Diabetes Mellitus (GDM), the independent effect of race on LGA risk by maternal prepregnancy BMI is still unclear among women without GDM. Therefore, the objective of this study was to assess the association between maternal race/ethnicity and LGA among women without GDM. Methods This was a population-based cohort study of 2,842,278 singleton births using 2012 U...
January 13, 2017: Maternal and Child Health Journal
https://www.readbyqxmd.com/read/28088242/differences-in-spatial-distributions-of-iron-supplementation-use-among-pregnant-women-and-associated-factors-in-ethiopia-evidence-from-the-2011-national-population-based-survey
#11
Demewoz Haile, Lianna Tabar, Yihunie Lakew
BACKGROUND: Iron supplementation during pregnancy prevents against low birth weight, incidence of prematurity and postpartum hemorrhage. However, the coverage of iron supplementation is still low in Ethiopia. This study aimed to investigate the spatial variations and associated factors of iron supplementation during pregnancy using the 2011 national demographic and health survey data. METHODS: This study used secondary data from the 2011 Ethiopian demographic and health survey...
January 14, 2017: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/28087676/the-longitudinal-study-of-aging-in-human-young-adults-knowledge-gaps-and-research-agenda
#12
Terrie E Moffitt, Daniel W Belsky, Andrea Danese, Richie Poulton, Avshalom Caspi
BACKGROUND: To prevent onset of age-related diseases and physical and cognitive decline, interventions to slow human aging and extend health span must eventually be applied to people while they are still young and healthy. Yet most human aging research examines older adults, many with chronic disease, and little is known about aging in healthy young humans. METHOD: This article explains how this knowledge gap is a barrier to extending health span and puts forward the case that geroscience should invest in researching the pace of aging in young adults...
February 2017: Journals of Gerontology. Series A, Biological Sciences and Medical Sciences
https://www.readbyqxmd.com/read/28079811/routine-application-of-lung-ultrasonography-in-the-neonatal-intensive-care-unit
#13
Shui-Wen Chen, Wei Fu, Jing Liu, Yan Wang
The aim of this study was to study the features of lung ultrasonography (LUS) in lung disease and to evaluate the usefulness of LUS in the neonatal intensive care unit (NICU).All of 3405 neonates included in this study underwent an LUS examination. Diagnoses were based on medical history, clinical manifestation, laboratory examination, and signs on chest radiography (CR) and/or computed tomography (CT). A single expert physician performed all LUS examinations.There were 2658 cases (78.9%) with lung disease and 747 cases (21...
January 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28077428/reproductive-experiences-of-women-who-cryopreserved-oocytes-for-non-medical-reasons
#14
Karin Hammarberg, Maggie Kirkman, Natasha Pritchard, Martha Hickey, Michelle Peate, John McBain, Franca Agresta, Chris Bayly, Jane Fisher
STUDY QUESTION: What are the reproductive experiences of women who cryopreserve oocytes for non-medical reasons? SUMMARY ANSWER: One in three women had been pregnant at some stage in their lives and while most still wanted to have a child or another child, very few had used their stored oocytes, predominantly because they did not want to be single parents. WHAT IS KNOWN ALREADY: The number of healthy women who freeze oocytes to avoid age-related infertility is increasing...
January 6, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28076991/type-2-diabetes-mellitus-does-prenatal-care-affect-outcomes-suggested-running-head-treatment-of-t2dm-and-perinatal-outcomes
#15
Allison J Allen, Jonathan M Snowden, Bernard Lau, Yvonne Cheng, Aaron B Caughey
OBJECTIVE: To determine if prenatal care affects adverse perinatal outcomes in pregnant women with Type-2 Diabetes Mellitus. STUDY DESIGN: This was a retrospective cohort study of pregnant women with pregestational diabetes mellitus pregnancies in the state of California between 1997 and 2006, using vital statistics data linked to birth certificates. Women were stratified by time of presentation to care and we compared those who presented in the first trimester, third trimester, and those who had no prenatal care prior to delivery...
January 11, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28074213/-intrahepatic-cholestasis-of-pregnancy-rare-but-important
#16
REVIEW
A E Kremer, K Wolf, S Ständer
Intrahepatic cholestasis of pregnancy (ICP) is a liver-specific disorder occurring in approximately 0.5-2.0% of all pregnancies with a considerable variation in certain ethnic groups. ICP usually runs a benign course for the mother and is characterized by maternal pruritus mainly in the third trimester, elevated transaminases and fasting total serum bile salts and increased fetal adverse events. The etiology of ICP is only partially understood but seems to be multifactorial. Cholestasis-inducing effects of certain female sex hormones and their metabolites play an important role in genetically susceptible women...
January 10, 2017: Der Hautarzt; Zeitschrift Für Dermatologie, Venerologie, und Verwandte Gebiete
https://www.readbyqxmd.com/read/28073406/-prevention-of-mother-to-child-transmission-of-hepatitis-b-virus
#17
H Zhuang
Mother-to-child transmission (MTCT) is a major mode of hepatitis B virus (HBV) transmission, especially in high endemic areas. Administration of hepatitis B immunoglobulin (HBIG) and hepatitis B vaccine to infants at birth, followed by completion of the vaccine series, prevented approximately 95% of HBV transmission from HBsAg-positive mothers to their infants. However, immunoprophylaxis failure was still observed in 5~10% infants born to mothers with high levels of viremia. It was demonstrated that antiviral nucleot(s)ide analogues (NUCs) provided to pregnant women with high viral loads in late pregnancy further reduced MTCT...
December 20, 2016: Zhonghua Gan Zang Bing za Zhi, Zhonghua Ganzangbing Zazhi, Chinese Journal of Hepatology
https://www.readbyqxmd.com/read/28069986/mechanisms-involved-in-porcine-early-embryo-survival-following-ethanol-exposure
#18
Florence Pagé-Larivière, Céline Campagna, Marc-André Sirard
Alcohol consumption during pregnancy is still a cause of preventable birth defects and developmental disabilities. However, little is known about the impact of ethanol on preimplantation embryos and the molecular mechanisms involved. We aimed to determine the toxicogenomic impacts and the mechanisms involved in preimplantation embryonic survival following 0.2% ethanol exposure in porcine embryos. Gene expression changes were measured with a porcine embryo specific microarray and confirmed by RT-qPCR. Compared to control, ethanol exposure led to a 43% decrease in blastocyst rate and activated pathways associated with oxidative stress and nervous system damage, such as TP53 and TGF...
January 9, 2017: Toxicological Sciences: An Official Journal of the Society of Toxicology
https://www.readbyqxmd.com/read/28069474/heart-failure-in-late-pregnancy-and-postpartum-incidence-and-long-term-mortality-in-sweden-1997-2010
#19
Anders Barasa, Annika Rosengren, Tatiana Zverkova Sandström, Lars Ladfors, Maria Schaufelberger
AIMS: Heart failure (HF) in late pregnancy and postpartum (HFPP) of which peripartum cardiomyopathy (PPCM) comprises the larger part, is still a rare occurrence in Sweden. Population-based data are scarce. Our aim was to characterise HFPP and determine the incidence and mortality in a Swedish cohort. METHODS AND RESULTS: Through merging data from the National Inpatient, Cause of Death, and Medical Birth Registers, we identified ICD-10 codes for HF and cardiomyopathy, within 3 months before delivery up to 6 months postpartum...
January 6, 2017: Journal of Cardiac Failure
https://www.readbyqxmd.com/read/28068436/in-the-aftermath-of-the-national-children-s-study-is-large-birth-cohort-data-still-a-priority
#20
Terence Dwyer, Per Magnus, Jørn Olsen
No abstract text is available yet for this article.
January 9, 2017: JAMA Pediatrics
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