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https://www.readbyqxmd.com/read/29933067/long-term-functional-outcomes-following-hematopoietic-stem-cell-transplant-for-early-infantile-krabbe-disease
#1
Heather Allewelt, Mahsa Taskindoust, Jesse Troy, Kristin Page, Susan Wood, Suhag Parikh, Vinod K Prasad, Joanne Kurtzberg
Allogeneic hematopoietic stem cell transplantation (HSCT) can retard the progression of early infantile Krabbe disease (EIKD). Superior outcomes are achieved if HSCT is performed prior to the onset of symptoms, however little information is available about the long-term outcomes in surviving patients. We now describe functional outcomes in pre-symptomatic infants who underwent HSCT for EIKD at ≤2 months of life. Records of the 19 patients who underwent HSCT for EIKD at ≤2 months of age from 1996-2010 were reviewed...
June 19, 2018: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/29931523/pregnancy-associated-breast-cancer-maternal-breast-cancer-survival-over-10-years-and-obstetrical-outcome-at-a-university-centre-of-women-s-health
#2
Elisabeth Simoes, Joachim Graf, Alexander N Sokolov, Eva-Maria Grischke, Andreas D Hartkopf, Markus Hahn, Martin Weiss, Harald Abele, Harald Seeger, Sara Y Brucker
PURPOSE: Pregnancy-associated breast cancer (PABC) is considered the second most common malignancy affecting pregnancy. The limited knowledge as to long-term survival is nonuniform. This retrospective study aims to contribute by a follow-up of pregnancies of breast cancer patients treated at a single university centre with focus on maternal long-term survival in relation to time point of diagnosis (before, during, and after pregnancy). METHODS: Data of 25 patients were reviewed for the period between 2000 and 2009 in relation to their neonatal and maternal outcome parameters as well as their maternal breast cancer outcomes by assessing maternal mortality at annual intervals up to a maximum of 10 years follow-up...
June 21, 2018: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/29931346/tnnt1-nemaline-myopathy-natural-history-and-therapeutic-frontier
#3
Michael D Fox, Vincent J Carson, Han-Zhong Feng, Michael W Lawlor, John T Gray, Karlla W Brigatti, J-P Jin, Kevin A Strauss
We describe the natural history of 'Amish' nemaline myopathy (ANM), an infantile-onset, lethal disease linked to a pathogenic c.505G>T nonsense mutation of TNNT1, which encodes the slow fiber isoform of troponin T (TNNT1; a.k.a TnT). The TNNT1 c.505G>T allele has a carrier frequency of 6.5% within Old Order Amish settlements of North America. We collected natural history data for 106 ANM patients born between 1923 and 2017. Over the last two decades, mean age of molecular diagnosis was 16 ± 27 days. TNNT1 c...
June 20, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29930405/-effects-of-benzo-a-pyrene-on-expressions-of-insulin-degrading-enzyme-and-neprilysin-in-neuroglia-cells
#4
H F Zhang, H H Huang, Y J Zhao, Q R Li, Y Z Qi, H Zhou
OBJECTIVE: To investigate effects of benzo(a)pyrene (BaP) on expressions of insulin-degrading enzyme (IDE) and neprilysin (NEP) which have the ability to degrade β-amyloid (Aβ) in neuroglia cells. METHODS: Primary mix-neuroglia cells were cultured from newborn SD rats. After exposure to BaP, Aβ1-42 oligomer or Aβ1-42 fiber individually or jointly for 24 h, the cell survival rate was measured by cell counting kit-8 (CCK-8). Afterwards, the primary mix-neuroglia cells were divided randomly into six groups: Control group, BaP group (2...
June 18, 2018: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
https://www.readbyqxmd.com/read/29929926/effects-of-feeding-pregnant-beef-cows-selenium-enriched-alfalfa-hay-on-passive-transfer-of-ovalbumin-in-their-newborn-calves
#5
K Denise Apperson, William R Vorachek, Brian P Dolan, Gerd Bobe, Gene J Pirelli, Jean A Hall
Intestinal absorption of immunoglobulins is critical for health and survival of newborn calves because there is no transfer of immunoglobulins in utero. The objective of this study was to determine if feeding beef cows Se-enriched alfalfa hay during the last trimester of gestation improves passive transfer of ovalbumin (OVA), a surrogate protein marker for IgG absorption. Control cows (n = 15) were fed non-Se-fortified alfalfa hay (5.3 mg Se/head daily) plus a mineral supplement containing inorganic Se (3 mg Se/head daily)...
May 26, 2018: Journal of Trace Elements in Medicine and Biology
https://www.readbyqxmd.com/read/29910548/clinicoetiological-pattern-and-outcome-of-neonates-requiring-mechanical-ventilation-study-in-a-tertiary-care-centre
#6
Mohini Yadav, Gauri Chauhan, A K Bhardwaj, P D Sharma
The clinical and etiological pattern of ventilated newborns, their outcome in relation to morbidity and mortality was studied with 50 ventilated newborns, including outborns. M:f ratio was 2.1:1. The most common gestational age 28-36 weeks (60%) and mostly were appropriate for gestational age (66%). Survival rate 40% (20/50) being directly proportional to the gestational age and intrauterine growth pattern ( P < 0.01). Babies by LSCS Lower Segment Cessarian Section survived more than born by normal vaginal delivery (46...
May 2018: Indian Journal of Critical Care Medicine
https://www.readbyqxmd.com/read/29907704/growth-and-body-composition-of-children-aged-2-4-years-after-exposure-to-community-mobilisation-women-s-groups-in-bangladesh
#7
Edward Fottrell, Naveed Ahmed, Badrun Nahar, Sanjit Kumer Shaha, Abdul Kuddus, Carlos S Grijalva-Eternod, Tasmin Nahar, Caroline Fall, Clive Osmond, Virginia Govoni, Sarah Finer, Chittaranjan Yajnik, A K Azad Khan, Anthony Costello, Kishwar Azad, Graham A Hitman
BACKGROUND: Women's groups interventions in Bangladesh reduced neonatal deaths by 38% and improved hygienic delivery, newborn care practices and breast feeding. We explore the longer-term impact of exposure to women's groups during pregnancy on child growth at 2-4 years. METHODS: We performed a cross-sectional survey of child anthropometric measures (analysed as z-scores) among children born to women who had participated in the women's groups interventions while pregnant, compared with an age-matched and sex-matched sample of children born to control mothers...
June 15, 2018: Journal of Epidemiology and Community Health
https://www.readbyqxmd.com/read/29905572/cloning-expression-and-characterisation-of-a-cysteine-protease-from-trichinella-spiralis
#8
Yan Yan Song, Li Ang Wang, Hua Na Ren, Xin Qi, Ge Ge Sun, Ruo Dan Liu, Peng Jiang, Xi Zhang, Jing Cui, Zhong Quan Wang
Cysteine protease is a superfamily of widespread proteolytic enzymes and plays a major role in larval invasion, migration, exsheathing, survival and immune evasion in parasites. In the present study, the gene coding cysteine proteinase of the nematode Trichinella spiralis (Owen, 1835) was cloned into pQE-80L and subsequently expressed in E. coli JM109. The rTsCP was purified and its antigenicity was identified by Western blot and ELISA. Using anti-rTsCP serum the native TsCP was identified in muscle larval crude proteins...
May 29, 2018: Folia Parasitologica
https://www.readbyqxmd.com/read/29904606/starting-the-conversation-community-perspectives-on-preterm-birth-and-kangaroo-mother-care-in-southern-malawi
#9
Megan Lydon, Monica Longwe, Dyson Likomwa, Victoria Lwesha, Lydia Chimtembo, Pamela Donohue, Tanya Guenther, Bina Valsangar
Background: Despite introduction of Kangaroo Mother Care (KMC) in Malawi over a decade ago, preterm birth remains the leading cause of neonatal mortality. Although KMC is initiated in the health care facility, robust community follow-up is critical for survival and optimal development of preterm and low birth weight infants post-discharge. The objective of this qualitative study was to gain insight into community and health worker understanding, attitudes, beliefs and practices around preterm and low birth weight babies and KMC in Malawi...
June 2018: Journal of Global Health
https://www.readbyqxmd.com/read/29902505/short-term-heat-exposure-promotes-hippocampal-neurogenesis-via-activation-of-angiotensin-ii-type-1-receptor-in-adult-rats
#10
Yuka Koyama, Takao Mukuda, Sawako Hamasaki, Hironobu Nakane, Toshiyuki Kaidoh
Angiotensin II (Ang II) synthesized in response to body fluid loss caused by actions such as sweating and breathing is today considered as one of the essential factors for promoting hippocamal neurogenesis. Because heat-stimuli, along with exercise, increases systemic levels of Ang II, the effects of short-term heat exposure on hippocampal neurogenesis were examined in adult male rats. When rats were exposed daily to a 1 h heat treatment (36.0 ± 0.1°C) during a 7 d experimental period, the number of doublecortin-immunoreactive newborn cells in the hippocampal dentate gyrus was increased approximately 1...
June 11, 2018: Neuroscience
https://www.readbyqxmd.com/read/29896192/outgrowing-the-immaturity-myth-the-cost-of-defending-from-neonatal-infectious-disease
#11
Danny Harbeson, Rym Ben-Othman, Nelly Amenyogbe, Tobias R Kollmann
Newborns suffer high rates of mortality due to infectious disease-this has been generally regarded to be the result of an "immature" immune system with a diminished disease-fighting capacity. However, the immaturity dogma fails to explain (i) greater pro-inflammatory responses than adults in vivo and (ii) the ability of neonates to survive a significantly higher blood pathogen burden than of adults. To reconcile the apparent contradiction of clinical susceptibility to disease and the host immune response findings when contrasting newborn to adult, it will be essential to capture the entirety of available host-defense strategies at the newborn's disposal...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29895506/exposure-to-sublethal-concentrations-of-tributyltin-reduced-survival-growth-and-20-hydroxyecdysone-levels-in-a-marine-mysid
#12
Bo-Mi Kim, Manoharan Saravanan, Do-Hee Lee, Jung-Hoon Kang, Moonkoo Kim, Jee-Hyun Jung, Jae-Sung Rhee
Tributyltin (TBT) is as an antifouling organotin compound used in boat paints. Although organotin-based antifouling agents have been banned on a global scale, the mode of action of TBT has been studied in numerous aquatic species because of its toxicity, persistence, bioaccumulation potential, and endocrine-disrupting characteristics. In this study, we conducted 96-h acute toxicity tests wherein we exposed juvenile and adult marine mysids to waterborne TBT. Over 4 weeks of exposure, mortality was dose-dependently increased in juveniles and adult mysids...
June 7, 2018: Marine Environmental Research
https://www.readbyqxmd.com/read/29894205/elafin-treatment-rescues-egfr-klf4-signaling-and-lung-cell-survival-in-ventilated-newborn-mice
#13
Miguel A Alejandre Alcazar, Mark Kaschwich, Robert Ertsey, Stefanie Preuss, Carlos Milla, Sana Mujahid, Juliet Masumi, Suleman Khan, Lucia M Mokres, Lu Tian, Jasmine Mohr, Dharmesh V Hirani, Marlene Rabinovitch, Richard D Bland
RATIONALE: Mechanical ventilation with O2 -rich gas (MV-O2 ) inhibits alveologenesis and lung growth. We showed that MV-O2 increases elastase activity and apoptosis in lungs of newborn mice; elastase inhibition by elafin suppressed apoptosis and enabled lung growth. In pilot studies, MV-O2 reduced lung expression of pro-survival factors, pEGFR and Klf4. OBJECTIVES: Determine if apoptosis and lung growth arrest evoked by MV-O2 reflect disrupted pEGFR-Klf4 signaling, which elafin treatment preserves...
June 12, 2018: American Journal of Respiratory Cell and Molecular Biology
https://www.readbyqxmd.com/read/29890394/carbon-nanofiber-based-multiplexed-immunosensor-for-the-detection-of-survival-motor-neuron-1-cystic-fibrosis-transmembrane-conductance-regulator-and-duchenne-muscular-dystrophy-proteins
#14
Shimaa Eissa, Nawal Alshehri, Mai Abduljabbar, Anas M Abdel Rahman, Majed Dasouki, Imran Y Nizami, Mohammad A Al-Muhaizea, Mohammed Zourob
Simultaneous and point-of-care detection of multiple protein biomarkers has significant impact on patient care. Spinal Muscular Atrophy (SMA), Cystic Fibrosis (CF) and Duchenne Muscular Dystrophy (DMD) are well known progressive hereditary disorders associated with increased morbidity as well as mortality. Therefore, rapid detection of biomarkers specific for these three disorders in newborns offers new opportunities for early diagnosis, delaying symptoms and effective treatment. Here, we report the development of a disposable carbon nanofiber (CNF)-based electrochemical immunosensor for simultaneous detection of survival motor neuron 1 (SMN1), cystic fibrosis transmembrane conductance regulator (CFTR) and DMD proteins...
May 28, 2018: Biosensors & Bioelectronics
https://www.readbyqxmd.com/read/29888426/differential-response-to-renal-replacement-therapy-in-neonatal-onset-inborn-errors-of-metabolism
#15
Francesco Porta, Licia Peruzzi, Roberto Bonaudo, Silvia Pieretti, Marta Busso, Enrico Cocchi, Alessandra Conio, Veronica Pagliardini, Marco Spada
Severe urea cycle defects (UCDs), organic acidemias (OAs), and maple syrup urine disease (MSUD) are life-threatening disorders presenting in the first days of life. Renal replacement therapy (RRT) is an emergency option in affected newborns, mostly performed as ultima ratio. We report our 10-year experience using emergency RRT in newborns with UCDs, OAs, and MSUD. Twelve newborns (8 with UCDs, 2 with methylmalonic acidemia, and 2 with MSUD) underwent emergency RRT. The overall survival rate to RRT was 58.3%...
June 10, 2018: Nephrology
https://www.readbyqxmd.com/read/29886487/transition-of-care-from-childhood-to-adulthood-congenital-adrenal-hyperplasia
#16
Anne Bachelot
Deficiency of the 21-hydroxylase enzyme is the most common form of congenital adrenal hyperplasia (CAH), accounting for more than 95% of the cases. With the advent of newborn screening and hormone replacement therapy, most children with CAH survive into adulthood. Adolescents and adults with CAH experience a number of complications, including short stature, obesity, infertility, impaired bone mineral density, and reduced quality of life. Transition from pediatric to adult care and management of long-term complications are challenging for both patients and practitioners...
2018: Endocrine Development
https://www.readbyqxmd.com/read/29884819/elevated-protein-concentrations-in-newborn-blood-and-the-risks-of-autism-spectrum-disorder-and-of-social-impairment-at-age-10-years-among-infants-born-before-the-28th-week-of-gestation
#17
Steven J Korzeniewski, Elizabeth N Allred, T Michael O'Shea, Alan Leviton, Karl C K Kuban
Among the 1 of 10 children who are born preterm annually in the United States, 6% are born before the third trimester. Among children who survive birth before the 28th week of gestation, the risks of autism spectrum disorder (ASD) and non-autistic social impairment are severalfold higher than in the general population. We examined the relationship between top quartile inflammation-related protein concentrations among children born extremely preterm and ASD or, separately, a high score on the Social Responsiveness Scale (SRS total score ≥65) among those who did not meet ASD criteria, using information only from the subset of children whose DAS-II verbal or non-verbal IQ was ≥70, who were assessed for ASD, and who had proteins measured in blood collected on ≥2 days (N = 763)...
June 8, 2018: Translational Psychiatry
https://www.readbyqxmd.com/read/29884552/feasibility-of-non-invasive-neurally-adjusted-ventilator-assist-after-congenital-diaphragmatic-hernia-repair
#18
Ruchi Amin, Marjorie J Arca
BACKGROUND: The use of neurally adjusted ventilator assist (NAVA) in congenital diaphragmatic hernia (CDH) patients has been historically deemed unwise, since the trigger for breaths is the electromyographic activity of the diaphragmatic muscle. We report on our NAVA experience in CDH patients. METHODS: We performed an IRB-approved retrospective review of newborns from 1/1/2012-1/1/2017 at a Level I Children's Surgery Center undergoing CDH repair. Data obtained included demographics, defect type and repair, respiratory support, and outcomes...
May 19, 2018: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29884465/universal-newborn-screening-a-roadmap-for-action
#19
C P Howson, B Cedergren, R Giugliani, P Huhtinen, C D Padilla, C S Palubiak, M D Santos, I V D Schwartz, B L Therrell, A Umemoto, J Wang, X Zeng, X Zhao, N Zhong, E R B McCabe
Newborn screening (NBS) prevents morbidity and mortality by screening babies for selected disorders in the first days of life so that early diagnosis and treatment can be initiated. Congenital disorders impact an estimated 8 million or 6% of annual births worldwide, and of the top five that contribute 25% to the global burden of these disorders, three can be identified and managed by NBS. There are determined pockets of activity in Latin America, Sub-Saharan Africa, and the Asia Pacific region, where partnerships among government, non-governmental organizations, academia, the private sector and civil society are developing novel NBS programs that are both saving lives and preventing disability in those who survive...
April 25, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29883345/-the-role-of-genes-of-renin-angiotensin-system-in-the-development-of-adverse-outcomes-of-treatment-in-severe-intraventricular-hemorrhages-in-premature-infants
#20
Наталия И Гасюк, Наталия С Артемова, Елена М Ковалева, Валерий И Похилько, Галина А Соловьева
OBJECTIVE: Introduction: Intraventricular hemorrhage (IVH) causes increased morbidity and mortality in premature infants and is associated with adverse neurological outcomes. The aim of the research is to confirm the role of genes of renin-angiotensin system in the development of adverse outcomes of treatment of severe IVC in preterm. PATIENTS AND METHODS: Materials and methods: A prospective study was conducted, which included 58 premature infants (average birth weight 1016...
2018: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
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