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https://www.readbyqxmd.com/read/28433111/epidemiology-and-introduction-to-the-clinical-presentation-of-wilson-disease
#1
Christine Lo, Oliver Bandmann
Our understanding of the epidemiology of Wilson disease has steadily grown since Sternlieb and Scheinberg's first prevalence estimate of 5 per million individuals in 1968. Increasingly sophisticated genetic techniques have led to revised genetic prevalence estimates of 142 per million. Various population isolates exist where the prevalence of Wilson disease is higher still, the highest being 885 per million from within the mountainous region of Rucar in Romania. In Sardinia, where the prevalence of Wilson disease has been calculated at 370 per million births, six mutations account for around 85% of Wilson disease chromosomes identified...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28429911/inequality-in-malnutrition-by-maternal-education-levels-in-early-childhood-the-prospective-cohort-of-thai-children-pctc
#2
Seo Ah Hong, Pattanee Winichagoon, Aroonsri Mongkolchati
BACKGROUND AND OBJECTIVES: As tackling socioeconomic inequality in child malnutrition still remains one of the greatest challenges in developing countries, we examined maternal educational differences in malnutrition and the magnitude of its inequality among 4,198 children from the Prospective Cohort study of Thai Children (PCTC). METHODS AND STUDY DESIGN: Prevalence of stunting, underweight, and wasting from birth to 24 months was calculated using the new WHO growth chart...
May 2017: Asia Pacific Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/28429672/the-molecular-mechanisms-of-thalidomide-teratogenicity-and-implications-for-modern-medicine
#3
J Knobloch, D Jungck, A Koch
Thalidomide is a teratogen that affects many organs but primarily induces limb truncations like phocomelia. Rodents are thalidomide resistant. In the 1950s, this has led to misinterpretations of animal tests and to the fatal assumption that the drug was safe for pregnant women to use against morning sickness. The result was one of the biggest scandals in medical history: 10.000 and more infants with birth defects in Europe. Nonetheless, thalidomide still has its place in modern medicine as it has strong therapeutic potential: it has been approved by the FDA for multiple myeloma and erythema nodosum leprosum, and its anti-inflammatory, immunomodulatory and anti-angiogenic activities are considered in many other refractory diseases...
March 31, 2017: Current Molecular Medicine
https://www.readbyqxmd.com/read/28427423/analysis-of-inequality-in-maternal-and-child-health-outcomes-and-mortality-from-2000-to-2013-in-china
#4
Yanting Li, Yimin Zhang, Shuai Fang, Shanshan Liu, Xinyu Liu, Ming Li, Hong Liang, Hua Fu
BACKGROUND: Inequality in maternal and child health seriously hinders the overall improvement of health, which is a concern in both the United Nations Sustainable Development Goals (SDGs) and Healthy China 2030. However, research on the equality of maternal and child health is scarce. This study longitudinally assessed the equality trends in China's maternal and child health outcomes from 2000 to 2013 based on place of residence and gender to improve the fairness of domestic maternal and child health...
April 20, 2017: International Journal for Equity in Health
https://www.readbyqxmd.com/read/28422281/wnk1-hsn2-founder-mutation-in-patients-with-hereditary-sensory-and-autonomic-neuropathy-a-japanese-cohort-study
#5
Jun-Hui Yuan, Akihiro Hashiguchi, Akiko Yoshimura, Norio Sakai, Masanori P Takahashi, Takehiro Ueda, Akira Taniguchi, Sayaka Okamoto, Nobuo Kanazawa, Yuki Yamamoto, Kazumasa Saigoh, Susumu Kusunoki, Masahiro Ando, Yu Hiramatsu, Yuji Okamoto, Hiroshi Takashima
The clinical and genetic spectrum of hereditary sensory and autonomic neuropathy (HSAN) is still unknown in Japan. We collected a broad cohort of 33 unrelated patients with predominant sensory and/or autonomic dysfunctions, who were referred to our genetic laboratory. A gene panel sequencing targeting 18 HSAN-related genes was performed using a next-generation sequencing system. A recurrent frame shift mutation in the WNK1/HSN2 gene, c.3237_3238insT (p.Asp1080*), was detected in five patients. This mutation was homozygous in four cases and of a compound heterozygous genotype in one case...
April 19, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28419979/clinical-profile-of-persistent-genito-pelvic-postpartum-pain
#6
Jaclyn Cappell, Caroline F Pukall
OBJECTIVE*: the primary aim was to describe the pain characteristics of persistent genito-pelvic postpartum pain (PPP) and compare these characteristics by mode of delivery. The secondary aim was to incorporate psychosocial variables into the conceptualization of PPP by exploring the relationship among postpartum depressive symptoms, fatigue, and PPP. DESIGN: cross-sectional study design. SETTING: online survey. PARTICIPANTS: 106 women recruited from the community who gave birth within twelve months prior to completing the survey...
April 8, 2017: Midwifery
https://www.readbyqxmd.com/read/28419708/willingness-to-pay-for-a-maternity-waiting-home-stay-in-zambia
#7
Taryn Vian, Emily E White, Godfrey Biemba, Kaluba Mataka, Nancy Scott
INTRODUCTION: Complications of pregnancy and childbirth can pose serious risks to the health of women, especially in resource-poor settings. Zambia has been implementing a program to improve access to emergency obstetric and neonatal care, including expansion of maternity waiting homes-residential facilities located near a qualified medical facility where a pregnant woman can wait to give birth. Yet it is unclear how much support communities and women would be willing to provide to help fund the homes and increase sustainability...
March 2017: Journal of Midwifery & Women's Health
https://www.readbyqxmd.com/read/28416291/cumulative-live-birth-rate-after-gnrh-agonist-trigger-and-elective-cryopreservation-of-all-embryos-in-high-responders
#8
Veljko Vlaisavljević, Borut Kovačič, Jure Knez
Elective embryo cryopreservation after using gonadotrophin-releasing hormone (GnRH) antagonist protocols and GnRH agonist triggering is becoming an increasingly important part of medically assisted reproduction. We designed a single-centre retrospective study to assess the cumulative probability of achieving a live birth through consecutive transfers of vitrified-warmed blastocysts after elective embryo cryopreservation in high-responding patients. Hence, 123 women identified to be at high risk for developing ovarian hyperstimulation syndrome were included...
April 7, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/28416208/fetal-and-perinatal-stem-cells-in-cardiac-regeneration-moving-forward-to-the-paracrine-era
#9
C Balbi, S Bollini
Cardiovascular disease (CD) is a major burden for Western society. Regenerative medicine has provided encouraging results, yet it has not addressed the focal defects causing CD and mainly related to the inefficient repair programme of the heart. In this scenario, stem cells have been broadly investigated and their paracrine effect proposed as a possible working strategy to boost endogenous mechanisms of repair and regeneration from within the cardiac tissue. The scientific community is now focusing on identifying the most effective stem cell secretome, as the whole of bioactive factors and extracellular vesicles secreted by stem cells and endowed with regenerative potential...
April 12, 2017: Placenta
https://www.readbyqxmd.com/read/28416034/cohabitation-and-union-dissolution-in-central-uganda-differences-between-cohabitors-and-non-cohabitors
#10
Charles Lwanga, Ishmael Kalule-Sabiti, Natal Ayiga
The aim of this paper was to establish whether the differences in the risks of union dissolution between cohabitors and non-cohabitors in Uganda have converged over time using event history data. Data were collected in 2013 from 1200 women in central Uganda using retrospective methods. Of these, 839 provided information on three types of first union: women who married directly (without first cohabiting), those who married following cohabitation and those who were still cohabiting. The data were analysed using decrement lifetable analysis...
April 18, 2017: Journal of Biosocial Science
https://www.readbyqxmd.com/read/28416012/congenital-cytomegalovirus-infection-advances-and-challenges-in-diagnosis-prevention-and-treatment
#11
REVIEW
Concetta Marsico, David W Kimberlin
Cytomegalovirus (CMV) is the most frequent cause of congenital infection worldwide, with an estimated incidence in developing countries of 0.6-0.7% of all live births. The burden of disease related to congenital CMV in substantial, as it is the leading non-genetic cause of sensorineural hearing loss and an important cause of neurodevelopmental disabilities in children. Despite its clinical significance, congenital CMV infection often goes undetected because the majority of infected infants are asymptomatic at birth and screening programs have not been substantially implemented...
April 17, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28413450/fetal-testis-organ-culture-reproduces-the-dynamics-of-epigenetic-reprogramming-in-rat-gonocytes
#12
Arlette Rwigemera, Fabien Joao, Geraldine Delbes
BACKGROUND: Epigenetic reprogramming is a critical step in male germ cell development that occurs during perinatal life. It is characterized by the remodeling of different epigenetic marks such as DNA methylation (5mC) and methylation of histone H3. It has been suggested that endocrine disruptors can affect the male germline epigenome by altering epigenetic reprogramming, but the mechanisms involved are still unknown. We have previously used an organ culture system that maintains the development of the different fetal testis cell types, to evaluate the effects of various endocrine disruptors on gametogenesis and steroidogenesis in the rat...
2017: Epigenetics & Chromatin
https://www.readbyqxmd.com/read/28412037/relationship-between-the-degree-of-perineal-trauma-at-vaginal-birth-and-change-in-haemoglobin-concentration
#13
Ana Rubio-Álvarez, Milagros Molina-Alarcón, Antonio Hernández-Martínez
BACKGROUND: Postpartum anaemia is a problem with high prevalence that significantly affects maternal recovery. Among the causal factors is perineal trauma. However, it is still not known what degree of perineal trauma produces a greater reduction of haemoglobin. AIM: To assess the relationship between the degree of perineal trauma and change in haemoglobin concentration at vaginal birth. METHODS: An observational, analytical retrospective cohort study was performed at the Mancha-Centro Hospital (Spain) during the period 2010-2014...
April 12, 2017: Women and Birth: Journal of the Australian College of Midwives
https://www.readbyqxmd.com/read/28411119/worldwide-comparison-of-survival-from-childhood-leukaemia-for-1995-2009-by-subtype-age-and-sex-concord-2-a-population-based-study-of-individual-data-for-89%C3%A2-828-children-from-198-registries-in-53-countries
#14
Audrey Bonaventure, Rhea Harewood, Charles A Stiller, Gemma Gatta, Jacqueline Clavel, Daniela C Stefan, Helena Carreira, Devon Spika, Rafael Marcos-Gragera, Rafael Peris-Bonet, Marion Piñeros, Milena Sant, Claudia E Kuehni, Michael F G Murphy, Michel P Coleman, Claudia Allemani
BACKGROUND: Global inequalities in access to health care are reflected in differences in cancer survival. The CONCORD programme was designed to assess worldwide differences and trends in population-based cancer survival. In this population-based study, we aimed to estimate survival inequalities globally for several subtypes of childhood leukaemia. METHODS: Cancer registries participating in CONCORD were asked to submit tumour registrations for all children aged 0-14 years who were diagnosed with leukaemia between Jan 1, 1995, and Dec 31, 2009, and followed up until Dec 31, 2009...
April 11, 2017: Lancet Haematology
https://www.readbyqxmd.com/read/28410473/thyroid-hormone-parameters-during-pregnancy-in-relation-to-urinary-bisphenol-a-concentrations-a-repeated-measures-study
#15
Max T Aung, Lauren E Johns, Kelly K Ferguson, Bhramar Mukherjee, Thomas F McElrath, John D Meeker
BACKGROUND: Maternal supply of thyroid hormones during pregnancy serves a critical role in fetal development. Although animal and in vitro studies provide evidence for thyroid hormone disruption as a result of bisphenol A (BPA) exposure, there is still a lack of evidence in human studies, particularly in the context of pregnancy. OBJECTIVES: We aimed to explore the associations between urinary BPA concentrations and plasma thyroid hormone parameters during gestation in pregnant women, and also investigated potential windows of vulnerability during gestation...
April 11, 2017: Environment International
https://www.readbyqxmd.com/read/28400574/maternal-lipids-and-leptin-concentrations-are-associated-with-large-for-gestational-age-births-a-prospective-cohort-study
#16
Dayana Rodrigues Farias, Lucilla Poston, Ana Beatriz Franco-Sena, Antônio Augusto Moura da Silva, Thatiana Pinto, Lívia Costa de Oliveira, Gilberto Kac
The change in maternal lipid, leptin and adiponectin concentrations during pregnancy and infant birth weight (BW) is still poorly characterized. Thus, the aim of the study was to evaluate the association of maternal lipids, leptin and adiponectin throughout pregnancy with large-for-gestational-age (LGA) births and BW z-score. A prospective cohort of 199 mothers was followed during pregnancy in Rio de Janeiro, Brazil. The statistical analyses comprised multiple logistic and linear regression. Women delivered 36 LGA and 11 small-for-gestational-age newborns...
April 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28399841/building-a-research-registry-for-studying-birth-complications-and-outcomes-in-six-palestinian-governmental-hospitals
#17
Sahar Hassan, Ase Vikanes, Katariina Laine, Khaled Zimmo, Mohammad Zimmo, Espen Bjertness, Erik Fosse
BACKGROUND: Electronic-health (e-health) provides opportunities for quality improvement of healthcare, but implementation in low and middle income countries is still limited. Our aim was to describe the implementation of a registration (case record form; CRF) for obstetric interventions and childbirth events using e-health in a prospective birth cohort study in Palestine. We also report the completeness and the reliability of the data. METHODS: Data on maternal and fetal health was collected prospectively for all women admitted to give birth during the period from 1st March 2015 to 31st December 2015 in three governmental hospitals in Gaza and three in the West Bank...
April 11, 2017: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/28398676/treatment-of-infections-during-pregnancy-progress-and-challenges
#18
REVIEW
Lisa M Noguchi, Richard H Beigi
BACKGROUND: Emergence of Zika virus as a pathogen with important implications for perinatal outcomes highlights the need to identify safe and effective strategies for prevention and treatment of maternal infections. METHODS: While substantial progress has been made in this area in recent years, significant regulatory and health systems barriers must still be overcome to identify and deliver evidence-based drug therapies for pregnant women. RESULTS: We review progress and outstanding challenges associated with the identification and implementation of new treatment options for maternal infections...
March 15, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28398668/-the-legacy-of-thalidomide-a-multidisciplinary-meeting-held-at-the-university-of-york-united-kingdom-on-september-30-2016
#19
Elizabeth Newbronner, Neil Vargesson, Karl Atkin
BACKGROUND: Between 1957 and 1962 thalidomide was used as a nonaddictive, nonbarbiturate sedative that also was successful in relieving the symptoms of morning sickness in early pregnancy. Infamously, thousands of babies were subsequently born with severe birth defects. The drug is used again, today, to successfully treat leprosy, and tragically, there is a new generation of thalidomide damaged children in Brazil. While the outward damage in babies has been documented, the effects of the damage upon the survivors as they grow up, the lifestyle changes and adaptations required to be made, as well as studies into ageing in survivors, has received little attention and remains understudied...
March 1, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28396556/pregnancy-outcomes-in-association-with-stds-including-genital-hsv-2-shedding-in-a-south-african-cohort-study
#20
Dhayendre Moodley, Benn Sartorius, Savithree Madurai, Vani Chetty, Suzanne Maman
OBJECTIVES: Genital herpes simplex virus-2 (HSV-2) shedding in pregnant women in association with neonatal herpes infection has been widely studied but there is limited evidence of its association with pregnancy outcomes. METHODS: In this retrospective observational study, we included a subgroup of pregnant women who were enrolled in a randomized control behavioural intervention study that was conducted in South Africa in 2008-2010. In pregnancy, women had a HIV rapid test done and a genital swab taken to test for curable STIs and HSV-2 DNA...
April 10, 2017: Sexually Transmitted Infections
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