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https://www.readbyqxmd.com/read/28725570/enzyme-activities-of-%C3%AE-glucosidase-in-japanese-neonates-with-pseudodeficiency-alleles
#1
Ryuichi Mashima, Torayuki Okuyama
Lysosomal storage disorders (LSDs) are caused by defective enzyme activities in lysosomes, characterized by the accumulation of sphingolipids, glycolipids, oligosaccharides, mucopolysaccharides, the oxidation products of cholesterol, and other biological substances. A growing number of clinical studies have suggested the enhanced efficacy of existing therapies, including enzyme replacement therapy, which is effective when it is initiated during the presymptomatic period. Thus, the identification of disease-affected individuals by newborn screening has been considered an effective platform...
September 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28724394/development-of-newborn-screening-connect-nbs-connect-a-self-reported-patient-registry-and-its-role-in-improvement-of-care-for-patients-with-inherited-metabolic-disorders
#2
Yetsa Osara, Kathryn Coakley, Aishwarya Devarajan, Rani H Singh
BACKGROUND: Newborn Screening Connect (NBS Connect) is a web-based self-reported patient registry and resource for individuals and families affected by disorders included in the newborn screening panel. NBS Connect was launched in 2012 by Emory University after years of planning and grassroots work by professionals, consumers, and industry. Individuals with phenylketonuria (PKU), maple syrup urine disease (MSUD) or tyrosinemia (TYR) have been recruited through distribution of outreach materials, presentations at parent organization meetings and direct recruitment at clinic appointments...
July 19, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28719639/oral-administration-of-chinese-herbal-medicine-during-gestation-period-for-preventing-hemolytic-disease-of-the-newborn-due-to-abo-incompatibility-a-systematic-review-of-randomized-controlled-trials
#3
Huijuan Cao, Ruohan Wu, Mei Han, Patrina Ha Yuen Caldwell, Jian-Ping Liu
BACKGROUND: About 85.3% of hemolytic disease of the newborn (HDN) is caused by maternal-fetal ABO blood group incompatibility. However, there is currently no recommended "best" therapy for ABO incompatibility during pregnancy. OBJECTIVES: To systematically assess the safety and effectiveness of oral Chinese herbal medicine (CHM) for preventing HDN due to ABO incompatibility. METHODS: The protocol of this review was registered on the PROSPERO website (No...
2017: PloS One
https://www.readbyqxmd.com/read/28718198/targeted-antenatal-anti-d-prophylaxis-program-for-rhd-negative-pregnant-women-outcome-of-the-first-two-years-of-a-national-program-in-finland
#4
Katri Haimila, Kati Sulin, Malla Kuosmanen, Inna Sareneva, Anu Korhonen, Suvi Natunen, Jarno Tuimala, Susanna Sainio
The aim of this study was to assess the accuracy of the non-invasive fetal RHD test at 24-26 weeks of gestation as part of the national antenatal screening programme to target routine antenatal anti-D prophylaxis (RAADP) at 28-30 weeks at women carrying an RhD-positive fetus MATERIAL AND METHODS: A prospective cohort study involving all maternity care centres and delivery hospitals in Finland between February 2014 and January 2016. Fetal RHD genotyping using cell-free fetal DNA in maternal plasma was performed with real-time polymerase chain reaction in a centralised setting...
July 17, 2017: Acta Obstetricia et Gynecologica Scandinavica
https://www.readbyqxmd.com/read/28717060/clinical-data-analysis-of-genotypes-and-phenotypes-of-deafness-gene-mutations-in-newborns-a-retrospective-study
#5
Yating Du, Lihui Huang, Xueyao Wang, Qingjia Cui, Xiaohua Cheng, Liping Zhao, Tingting Ni
We retrospectively analyzed newborns with deafness gene mutations and summarized the relationship between genotype and phenotype to provide a basis for genetic counseling. We studied 582 subjects positive for deafness gene mutations that were treated in the otology outpatient department of Beijing Tongren Hospital, Capital Medical University, between April 2012 and April 2016. The subjects were divided into 3 categories: a diagnosed group (group A), which was further subdivided into subgroups A1 (homozygous and compound heterozygous GJB2 mutations) and A2 (homozygous and compound heterozygous SLC26A4 mutations); a drug-induced deafness group (group B, mitochondrial (Mt) gene mutations); and a mutation carrier group (group C), which was further subdivided into the subgroups C1 (GJB2 heterozygous mutations), C2 (SLC26A4 heterozygous mutations), C3 (GJB3 heterozygous mutations), and C4 (double gene mutations)...
July 17, 2017: Bioscience Trends
https://www.readbyqxmd.com/read/28713802/developing-a-mentorship-program-in-laos
#6
Helen Nita Catton
Skills strengthening and capacity building for maternal and newborn health (MNH) providers are essential to ensure quality care for mothers and newborns. There is, however, limited research regarding what constitutes an effective model in low-income countries. The Lao People's Democratic Republic (Laos) has some of the region's worst outcomes for neonatal and maternal mortality. Moreover, with a 23-year hiatus in midwifery training, which ended approximately 7 years ago, there is a cadre of new and inexperienced midwives in practice without support systems, skills, or continuing professional development opportunities...
2017: Frontiers in Public Health
https://www.readbyqxmd.com/read/28713275/probiotics-supplementation-therapy-for-pathological-neonatal-jaundice-a-systematic-review-and-meta-analysis
#7
REVIEW
Zhe Chen, Lingli Zhang, Linan Zeng, Xiaoyan Yang, Lucan Jiang, Ge Gui, Zuojie Zhang
Background: Neonatal jaundice is a relatively prevalent disease and affects approximately 2.4-15% newborns. Probiotics supplementation therapy could assist to improve the recovery of neonatal jaundice, through enhancing immunity mainly by regulating bacterial colonies. However, there is limited evidence regarding the effect of probiotics on bilirubin level in neonates. Therefore, this study aims at systematically evaluating the efficacy and safety of probiotics supplement therapy for pathological neonatal jaundice...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/28711895/-the-dynamics-of-the-incidence-of-intraventricular-hemorrhages-and-their-outcomes-among-prematurely-born-children-of-the-poltava-region-in-2007-2016
#8
Елена А Калюжка, Наталия С Артемова, Наталия И Гасюк, Светлана Н Цвиренко, Валерий И Похилько
INTRODUCTION: Over the past decade, with the increase in the number of prematurely born babies with very-low-body-weight (VLBW) at birth, the number of intraventricular hemorrhages (IVH), including severe, increases, which leads to an increase in mortality and an increase in the number of posthemorrhagic hydrocephalus (PHH). AIM: To establish epidemiological trends in the IVH frequency, as well as their outcomes (PHH, mortality), among prematurely born children of the Poltava region during 2007-2016...
2017: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/28711893/-incidence-of-adverse-medical-events-in-the-neonatal-intensive-care-unit-with-the-help-of-a-global-trigger-tool
#9
Марина Н Фастовец, Андрей И Белорус, Виктор П Лысак, Лариса С Зюзина, Елена М Ковалева
INTRODUCTION: Identification and monitoring of the frequency of adverse medical events are important in the organization of the patient's safety system in the intensive care units (ICU). The consistent and accurate identification of adverse events remains a problem for most medical institutions, even in developed countries of the world. AIM: To determine the frequency of adverse medical events in the NICU by using Global and Pediatric Trigger Instruments. MATERIALS AND METHODS: To achieve the goal, the cross-sectional study was conducted in which in retrospect analyzed 160 newborn development records which were treated in the ICU of the newborn in the perinatal center of the M...
2017: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/28711173/presymptomatic-diagnosis-of-spinal-muscular-atrophy-through-newborn-screening
#10
Yin-Hsiu Chien, Shu-Chuan Chiang, Wen-Chin Weng, Ni-Chung Lee, Ching-Jie Lin, Wu-Shiun Hsieh, Wang-Tso Lee, Yuh-Jyh Jong, Tsang-Ming Ko, Wuh-Liang Hwu
OBJECTIVE: To demonstrate the feasibility of presymptomatic diagnosis of spinal muscular atrophy (SMA) through newborn screening (NBS). STUDY DESIGN: We performed a screening trial to assess all newborns who underwent routine newborn metabolic screening at the National Taiwan University Hospital newborn screening center between November 2014 and September 2016. A real-time polymerase chain reaction (RT-PCR) genotyping assay for the SMN1/SMN2 intron 7 c.888+100A/G polymorphism was performed to detect homozygous SMN1 deletion using dried blood spot (DBS) samples...
July 12, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28709412/study-protocol-safety-and-efficacy-of-propranolol-0-2-eye-drops-in-newborns-with-a-precocious-stage-of-retinopathy-of-prematurity-drop-rop-0-2-a-multicenter-open-label-single-arm-phase-ii-trial
#11
Luca Filippi, Giacomo Cavallaro, Elettra Berti, Letizia Padrini, Gabriella Araimo, Giulia Regiroli, Valentina Bozzetti, Chiara De Angelis, Paolo Tagliabue, Barbara Tomasini, Giuseppe Buonocore, Massimo Agosti, Angela Bossi, Gaetano Chirico, Salvatore Aversa, Roberta Pasqualetti, Pina Fortunato, Silvia Osnaghi, Barbara Cavallotti, Maurizio Vanni, Giulia Borsari, Simone Donati, Giuseppe Nascimbeni, Giancarlo la Marca, Giulia Forni, Silvano Milani, Ivan Cortinovis, Paola Bagnoli, Massimo Dal Monte, Anna Maria Calvani, Alessandra Pugi, Eduardo Villamor, Gianpaolo Donzelli, Fabio Mosca
BACKGROUND: Retinopathy of prematurity (ROP) still represents one of the leading causes of visual impairment in childhood. Systemic propranolol has proven to be effective in reducing ROP progression in preterm newborns, although safety was not sufficiently guaranteed. On the contrary, topical treatment with propranolol eye micro-drops at a concentration of 0.1% had an optimal safety profile in preterm newborns with ROP, but was not sufficiently effective in reducing the disease progression if administered at an advanced stage (during stage 2)...
July 14, 2017: BMC Pediatrics
https://www.readbyqxmd.com/read/28700391/human-t-lymphotropic-virus-type-1-infection-and-disease-in-spain
#12
Carmen de Mendoza, Estrella Caballero, Antonio Aguilera, Silvia Requena, Raúl Ortiz de Lejarazu, María Pirón, Rocío González, Ana Jiménez, Lourdes Roc, Ana Treviño, Rafael Benito, Miriam Fernández-Alonso, Aitziber Aguinaga, Carmen Rodríguez, Juan García-Costa, Lidia Blanco, José M Ramos, Enrique Calderón, José M Eirós, Silvia Sauleda, Pablo Barreiro, Vicente Soriano
: Human T-lymphotropic virus type 1 (HTLV-1) infection is a neglected disease despite roughly 15 million people are chronically infected worldwide. Lifelong less than 10% of carriers develop life-threatening diseases, mostly a subacute myelopathy known as tropical spastic paraparesis (TSP) and a lymphoproliferative disorder named adult T-cell leukemia (ATL). HTLV-1 is efficiently transmitted perinatally (breastfeeding), sexually (more from men to women) and parenterally (transfusions, injection drug user (IDU), and transplants)...
July 31, 2017: AIDS
https://www.readbyqxmd.com/read/28695584/patient-controlled-analgesia-with-remifentanil-vs-alternative-parenteral-methods-for-pain-management-in-labour-a-cochrane-systematic-review
#13
REVIEW
Y Jelting, S Weibel, A Afshari, N L Pace, J Jokinen, T Artmann, L H J Eberhart, P Kranke
We aimed to assess the effectiveness of remifentanil used as intravenous patient-controlled analgesia for the pain of labour. We performed a systematic literature search in December 2015 (updated in December 2016). We included randomised, controlled and cluster-randomised trials of women in labour with planned vaginal delivery receiving patient-controlled remifentanil compared principally with other parenteral and patient-controlled opioids, epidural analgesia and continuous remifentanil infusion or placebo...
August 2017: Anaesthesia
https://www.readbyqxmd.com/read/28694137/idiopathic-t-cell-lymphopenia-identified-in-new-york-state-newborn-screening
#14
Stephanie Albin-Leeds, Juliana Ochoa, Harshna Mehta, Beth H Vogel, Michele Caggana, Vincent Bonagura, Heather Lehman, Mark Ballow, Arye Rubinstein, Subhadra Siegel, Leonard Weiner, Geoffrey A Weinberg, Charlotte Cunningham-Rundles
Quantification of T-cell receptor excision circles (TRECs) for newborn screening for SCID has advanced the diagnosis of severe combined immune deficiency (SCID). However, it has led to the identification of infants with T cell lymphopenia without known cause. The clinical characteristics, appropriate laboratory monitoring, and outcomes of patients remain unclear. We performed a retrospective review of clinical and laboratory studies for 26 infants collected from 7 New York State referral centers from 2010 to 2016 with low TRECs (mean, 70copies/μl) and subnormal CD3 counts (mean, 1150/cubicmm)...
July 7, 2017: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/28693597/clinical-outcome-and-risk-factors-of-neonatal-sepsis-among-neonates-in-felege-hiwot-referral-hospital-bahir-dar-amhara-regional-state-north-west-ethiopia-2016-a-retrospective-chart-review
#15
Tilahun Tewabe, Seida Mohammed, Yibeltal Tilahun, Birhanie Melaku, Mequanint Fenta, Tsigiereda Dagnaw, Amare Belachew, Ashagre Molla, Habte Belete
BACKGROUND: Sepsis remains a major cause of morbidity and mortality among neonates. The risk factors and clinical outcomes of sepsis are poorly understood. Most cases of sepsis occurred mostly within the first week of newborns life related to perinatal risk factors. Late onset sepsis is related to hospital acquired infections which is seen after seven days of age. The purpose of this study was to assess clinical outcome and risk factors of neonatal sepsis in Felege Hiwot referral hospital Bahir Dar, North West Ethiopia...
July 11, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/28693501/knowledge-and-practice-of-immediate-newborn-care-among-health-care-providers-in-eastern-zone-public-health-facilities-tigray-ethiopia-2016
#16
Abadi Kidanemariam Berhe, Fitiwi Tinsae, Gebremedhin Gebreegziabher
BACKGROUND: According to WHO (2013) report the number of under five-year mortality in Ethiopia was 195,504, out of this 84,437 was from neonatal death and this mortality is related to immediate obstetric and newborn care of babies provided by health care providers; But little was known about the level of knowledge and practice related to immediate newborn care and their associated factors among health care providers generally in Tigray region and specifically in the Eastern Zone so the aim of this study was to assess knowledge and practice of immediate newborn care and associated factors among health care providers in the Eastern zone public health facilities, Tigray, Ethiopia...
July 11, 2017: BMC Pediatrics
https://www.readbyqxmd.com/read/28686749/setting-research-priorities-for-maternal-newborn-child-health-and-nutrition-in-india-by-engaging-experts-from-256-indigenous-institutions-contributing-over-4000-research-ideas-a-chnri-exercise-by-icmr-and-inclen
#17
Narendra K Arora, Archisman Mohapatra, Hema S Gopalan, Kerri Wazny, Vasantha Thavaraj, Reeta Rasaily, Manoj K Das, Meenu Maheshwari, Rajiv Bahl, Shamim A Qazi, Robert E Black, Igor Rudan
BACKGROUND: Health research in low- and middle- income countries (LMICs) is often driven by donor priorities rather than by the needs of the countries where the research takes place. This lack of alignment of donor's priorities with local research need may be one of the reasons why countries fail to achieve set goals for population health and nutrition. India has a high burden of morbidity and mortality in women, children and infants. In order to look forward toward the Sustainable Development Goals, the Indian Council of Medical Research (ICMR) and the INCLEN Trust International (INCLEN) employed the Child Health and Nutrition Research Initiative's (CHNRI) research priority setting method for maternal, neonatal, child health and nutrition with the timeline of 2016-2025...
June 2017: Journal of Global Health
https://www.readbyqxmd.com/read/28685301/steroid-use-for-refractory-hypotension-in-congenital-diaphragmatic-hernia
#18
Jason O Robertson, Cory N Criss, Lily B Hsieh, Niki Matsuko, Josh S Gish, Rodrigo A Mon, Kevin N Johnson, Samir K Gadepalli
PURPOSE: Guidelines for diagnosis and treatment of adrenal insufficiency (AI) in newborns with congenital diaphragmatic hernia (CDH) are poorly defined. METHODS: From 2002 to 2016, 155 infants were treated for CDH at our institution. Patients with shock refractory to vasopressors (clinically diagnosed AI) were treated with hydrocortisone (HC). When available, random cortisol levels <10 μg/dL were considered low. Outcomes were compared between groups. RESULTS: Hydrocortisone was used to treat AI in 34% (53/155) of patients...
July 6, 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/28681433/prevalence-of-positive-direct-antiglobulin-test-and-clinical-outcomes-in-surinamese-newborns-from-d-negative-women
#19
Rens Zonneveld, Margriet Lamers, Henk Schonewille, Anneke Brand, Humphrey H H Kanhai, Wilco C W R Zijlmans
BACKGROUND: In low-resource countries, screening for D antibodies to detect pregnancies at risk for hemolytic disease of the newborn is not routine practice. Retrospective data showed that 5.5% of Surinamese newborns of D-negative women had a positive direct antiglobulin test (DAT), indicating the presence of maternal antibodies against fetal antigens. Here, the frequency and clinical relevance of DAT positivity is evaluated. STUDY DESIGN AND METHODS: Between April 2015 and June 2016, an observational, multicenter cohort study was undertaken among Surinamese newborns born to D-negative women...
July 5, 2017: Transfusion
https://www.readbyqxmd.com/read/28679678/determinants-of-knowledge-of-critical-danger-signs-safe-childbirth-and-immediate-newborn-care-practices-among-auxiliary-midwives-a-cross-sectional-survey-in-myanmar
#20
Kyu Kyu Than, Alison Morgan, Minh Duc Pham, James G Beeson, Stanley Luchters
OBJECTIVES: The re-emergence of community-based health workers such as the auxiliary midwives (AMWs) in Myanmar, who are local female volunteers, has been an important strategy to address global health workforce shortages. The Myanmar government recommends one AMW for every village. The aim of this study is to investigate the current knowledge of critical danger signs and practices for safe childbirth and immediate newborn care of AMWs to inform potential task shifting of additional healthcare responsibilities...
July 5, 2017: BMJ Open
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