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Mechanical centilation

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https://www.readbyqxmd.com/read/29669177/mutations-that-alter-the-carboxy-terminal-propeptide-cleavage-site-of-the-chains-of-type-i-procollagen-are-associated-with-a-unique-osteogenesis-imperfecta-phenotype
#1
Tim Cundy, Michael Dray, John Delahunt, Jannie Dahl Hald, Bente Langdahl, Chumei Li, Marta Szybowska, Shehla Mohammed, Emma L Duncan, Aideen M McInerney-Leo, Patricia G Wheeler, Paul Roschger, Klaus Klaushofer, Jyoti Rai, MaryAnn Weis, David Eyre, Ulrike Schwarze, Peter H Byers
Osteogenesis imperfecta (OI) is a genetic bone disorder characterized by fractures, low bone mass, and skeletal fragility. It most commonly arises from dominantly inherited mutations in the genes COL1A1 and COL1A2 that encode the chains of type I collagen. A number of recent reports have suggested that mutations affecting the carboxyl-terminal propeptide cleavage site in the products of either COL1A1 or COL1A2 give rise to a form of OI characterized by unusually dense bones. We have assembled clinical, biochemical, and molecular data from 29 individuals from 8 families with 7 different mutations affecting the C-propeptide cleavage site...
April 18, 2018: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/29513563/chronic-hypertension-in-pregnancy-the-impact-of-ethnicity-and-superimposed-preeclampsia-on-placental-endothelial-and-renal-biomarkers
#2
Louise Mary Webster, Carolyn Gill, Paul T Seed, Kate Bramham, Cornelia Wiesender, Catherine Nelson-Piercy, Jenny E Myers, Lucy C Chappell
Black ethnicity is associated with worse pregnancy outcomes in women with chronic hypertension. Pre-existing endothelial and renal dysfunction, and poor placentation may contribute but pathophysiological mechanisms underpinning increased risk are poorly understood. This cohort study aimed to investigate the relationship between ethnicity, superimposed pre-eclampsia and longitudinal changes in markers of endothelial, renal and placental dysfunction in women with chronic hypertension. Plasma concentrations of placental growth factor (PlGF), syndecan-1, renin, aldosterone, and urinary angiotensinogen:creatinine ratio (AGTCR), protein:creatinine ratio (PCR) and albumin:creatinine ratio (ACR) were quantified during pregnancy and postpartum in women with chronic hypertension...
March 7, 2018: American Journal of Physiology. Regulatory, Integrative and Comparative Physiology
https://www.readbyqxmd.com/read/29463506/fetal-genotype-and-maternal-glucose-have-independent-and-additive-effects-on-birth-weight
#3
Alice E Hughes, Michael Nodzenski, Robin N Beaumont, Octavious Talbot, Beverley M Shields, Denise M Scholtens, Bridget A Knight, William L Lowe, Andrew T Hattersley, Rachel M Freathy
Maternal glycemia is a key determinant of birth weight but recent large-scale genome wide-association studies demonstrated an important contribution of fetal genetics. It is not known whether fetal genotype modifies the impact of maternal glycemia, or whether it acts through insulin-mediated growth. We tested the effects of maternal fasting plasma glucose (FPG) and a fetal genetic score for birth weight on birth weight and fetal insulin in 2,051 European mother-child pairs from the Exeter Family Study of Childhood Health (EFSOCH) and Hyperglycemia and Adverse Pregnancy Outcome (HAPO) Study...
February 20, 2018: Diabetes
https://www.readbyqxmd.com/read/29342293/genetic-analyses-in-small-for-gestational-age-newborns
#4
Susanne E Stalman, Nita Solanky, Miho Ishida, Cristina Alemán-Charlet, Sayeda Abu-Amero, Marielle Alders, Lucas Alvizi, William Baird, Charalambos Demetriou, Peter Henneman, Chela James, Lia C Knegt, Lydia J Leon, Marcel M A M Mannens, Adi N Mul, Nicole A Nibbering, Emma Peskett, Faisal I Rezwan, Carrie Ris-Stalpers, Joris A M van der Post, Gerdine A Kamp, Frans B Plötz, Jan M Wit, Philip Stanier, Gudrun E Moore, Raoul C Hennekam
Context: Small for gestational age (SGA) can be a result of fetal growth restriction, associated with perinatal morbidity and mortality. Mechanisms that control prenatal growth are poorly understood. Objective: The aim of the present study was to gain more insight into prenatal growth failure and determine an effective diagnostic approach in SGA newborns. We hypothesized that one or more CNVs and disturbed methylation and sequence variants may be present in genes known to be associated with fetal growth...
January 12, 2018: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29164086/a-novel-missense-mutation-of-the-nsd1-gene-associated-with-overgrowth-in-three-generations-of-an-italian-family-case-report-differential-diagnosis-and-review-of-mutations-of-nsd1-gene-in-familial-sotos-syndrome
#5
Gianluigi Laccetta, Francesca Moscuzza, Angela Michelucci, Andrea Guzzetta, Sara Lunardi, Francesca Lorenzoni, Paolo Ghirri
Sotos syndrome (SoS) is characterized by overgrowth of prenatal onset, learning disability, and characteristic facial appearance; it is usually due to haploinsufficiency of NSD1 gene at chromosome 5q35. An Italian child was born at 37 weeks of gestation (weight 2,910 g, 25th-50th centiles; length 50 cm, 75th centile; head circumference 36 cm, 97th centile) showing cryptorchidism on the right side, hypertelorism, dolichocephaly, broad and prominent forehead, and narrow jaw; the pregnancy was worsened by maternal preeclampsia and gestational diabetes, and his mother had a previous history of four early miscarriages...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29120452/vascular-aging-and-cardiac-maladaptation-in-growth-restricted-preterm-infants
#6
A Sehgal, B J Allison, S M Gwini, S Menahem, S L Miller, G R Polglase
OBJECTIVE: To assess arterial morphology and mechanics in preterm infants with fetal growth restriction (FGR) compared with those appropriate for gestational age (AGA) in the early neonatal period. STUDY DESIGN: This observational study involved 20 preterm FGR infants (28 to 32 weeks) of gestational age (GA) and birth weight (BW) <10th centile and 20 preterm AGA infants. Vascular ultrasound was performed to measure aortic properties. RESULTS: GA and BW of FGR and AGA infants were 29...
January 2018: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/29079714/tocilizumab-for-the-treatment-of-slc29a3-mutation-positive-phid-syndrome
#7
Nadia K Rafiq, Khalid Hussain, Paul A Brogan
Pigmentary hypertrichosis and non-autoimmune insulin-dependent diabetes mellitus (PHID) is associated with recessive mutations in SLC29A3 , encoding the equilibrative nucleoside transporter hENT3 expressed in mitochondria, causing PHID and H syndromes, familial Rosai-Dorfman disease, and histiocytosis-lymphadenopathy-plus syndrome. Autoinflammation is increasingly recognized in these syndromes. We previously reported a 16-year-old girl with PHID syndrome associated with severe autoinflammation that was recalcitrant to interleukin-1 and tumor necrosis factor-α blockade...
November 2017: Pediatrics
https://www.readbyqxmd.com/read/28432007/caloric-compensation-in-preschool-children-relationships-with-body-mass-and-differences-by-food-category
#8
S Carnell, L Benson, E L Gibson, L A Mais, S Warkentin
Maintaining a healthy weight may involve compensating for previously consumed calories at subsequent meals. To test whether heavier children demonstrated poorer caloric compensation across a range of conditions, and to explore whether compensation failure was the result of inadequate adjustment of overall intake or specific over-consumption of highly palatable, high energy-density 'junk' foods, we administered two compensation tests to a sample of 4-5 y olds. For Test A, preloads varied only in carbohydrate content and were organoleptically indistinguishable (200 ml orange-flavored beverage [0 kcal vs...
September 1, 2017: Appetite
https://www.readbyqxmd.com/read/27781326/organ-weights-and-ratios-for-postmortem-identification-of-fetal-growth-restriction-utility-and-confounding-factors
#9
J Man, J C Hutchinson, M Ashworth, I Jeffrey, A E Heazell, N J Sebire
OBJECTIVES: The postmortem fetal brain:liver weight ratio is commonly used as a marker of nutrition for diagnosis of fetal growth restriction (FGR). However, there are limited data regarding the effects of intrauterine retention, fetal maceration and postmortem interval on organ weights and their ratios at autopsy. Our aims were to examine the relationships between gestational-age-adjusted and sex-adjusted fetal organ weights at autopsy, cause of intrauterine death and effects of intrauterine retention, and to determine whether the brain:liver weight ratio is a reliable marker of FGR in intrauterine death...
November 2016: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/27604768/weight-centile-crossing-in-infancy-correlations-between-successive-months-show-evidence-of-growth-feedback-and-an-infant-child-growth-transition
#10
Tim J Cole, Atul Singhal, Mary S Fewtrell, Jonathan Ck Wells
BACKGROUND: Early rapid weight gain is associated with later overweight, which implies that weight centile crossing tracks over time. OBJECTIVE: Centile crossing is defined in terms of the change or deviation in weight z score during 1 mo, and the correlations between successive deviations are explored at different ages. DESIGN: Two Cambridge (United Kingdom) growth cohorts were used: Widdowson (1094 infants born during 1959-1965) and the Cambridge Infant Growth Study (CIGS; 255 infants born during 1984-1987), each with weights measured monthly in the first year...
October 2016: American Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/27555691/impact-of-malnutrition-on-pediatric-risk-of-mortality-score-and-outcome-in-pediatric-intensive-care-unit
#11
Romi Nangalu, Puneet Aulakh Pooni, Siddharth Bhargav, Harmesh Singh Bains
OBJECTIVES: This study was done to determine the effect of malnutrition on mortality in Pediatric Intensive Care Unit (PICU) and on the pediatric risk of mortality (PRISM) scoring. SUBJECTS AND METHODS: This was a prospective study done over 1 year. There were total 400 patients (1 month 14 years), who were divided into cases with weight for age <3(rd) centile and controls with ≥3(rd) centile of WHO charts. Cases were subdivided into mild/moderate (61-80% of expected weight for age) and severe malnutrition (<60%)...
July 2016: Indian Journal of Critical Care Medicine
https://www.readbyqxmd.com/read/27283230/plasma-interleukin-6-concentrations-metabolic-dysfunction-and-asthma-severity-a-cross-sectional-analysis-of-two-cohorts
#12
Michael C Peters, Kelly Wong McGrath, Gregory A Hawkins, Annette T Hastie, Bruce D Levy, Elliot Israel, Brenda R Phillips, David T Mauger, Suzy A Comhair, Serpil C Erzurum, Mats W Johansson, Nizar N Jarjour, Andrea M Coverstone, Mario Castro, Fernando Holguin, Sally E Wenzel, Prescott G Woodruff, Eugene R Bleecker, John V Fahy
BACKGROUND: Severe asthma is a complex heterogeneous disease associated with older age and obesity. The presence of eosinophilic (type 2) inflammation in some but not all patients with severe asthma predicts responsiveness to current treatments, but new treatment approaches will require a better understanding of non-type 2 mechanisms of severe asthma. We considered the possibility that systemic inflammation, which arises in subgroups of obese and older patients, increases the severity of asthma...
July 2016: Lancet Respiratory Medicine
https://www.readbyqxmd.com/read/27238372/endometrial-thickness-as-a-predictor-of-pregnancy-outcomes-in-10787-fresh-ivf-icsi-cycles
#13
Xi Yuan, Sotirios H Saravelos, Qiong Wang, Yanwen Xu, Tin-Chiu Li, Canquan Zhou
This retrospective study assessed the predictive value of endometrial thickness (EMT) on HCG administration day for the clinical outcome of fresh IVF and intracytoplasmic sperm injection (ICSI) cycles. A total of 8690 consecutive women undergoing 10,787 cycles over a 5-year period were included. The 5th, 50th and 95th centiles for EMT were determined as 8, 11 and 15 mm, respectively. Group analysis according to these centiles (Group 1: < 8 mm; Group 2: ≥ 8 and ≤11 mm; Group 3: > 11 and ≤15 mm; Group 4: > 15 mm) demonstrated significant differences (P < 0...
August 2016: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/27177157/early-onset-thrombocytopenia-in-small-for-gestational-age-neonates-a-retrospective-cohort-study
#14
S F Fustolo-Gunnink, R D Vlug, V E H J Smits-Wintjens, E J Heckman, A B Te Pas, K Fijnvandraat, E Lopriore
Thrombocytopenia is a common finding in small for gestational age (SGA) neonates and is thought to result from a unique pathophysiologic mechanism related to chronic intrauterine hypoxia. Our objective was to estimate the incidence and severity of early-onset thrombocytopenia in SGA neonates, and to identify risk factors for thrombocytopenia. We performed a retrospective cohort study of all consecutive SGA neonates admitted to our ward and a control group of appropriate for gestational age (AGA) neonates matched for gestational age at birth...
2016: PloS One
https://www.readbyqxmd.com/read/26599471/planned-early-delivery-versus-expectant-management-of-the-term-suspected-compromised-baby-for-improving-outcomes
#15
REVIEW
Diana M Bond, Adrienne Gordon, Jon Hyett, Bradley de Vries, Angela E Carberry, Jonathan Morris
BACKGROUND: Fetal compromise in the term pregnancy is suspected when the following clinical indicators are present: intrauterine growth restriction (IUGR), decreased fetal movement (DFM), or when investigations such as cardiotocography (CTG) and ultrasound reveal results inconsistent with standard measurements. Pathological results would necessitate the need for immediate delivery, but the management for 'suspicious' results remains unclear and varies widely across clinical centres. There is clinical uncertainty as to how to best manage women presenting with a suspected term compromised baby in an otherwise healthy pregnancy...
November 24, 2015: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/26439807/the-development-of-lung-biochemical-monitoring-can-play-a-key-role-in-the-early-prediction-of-bronchopulmonary-dysplasia
#16
Adele Fabiano, Antonio W D Gavilanes, Luc J I Zimmermann, Boris W Kramer, Piermichele Paolillo, Giovanni Livolti, Simonetta Picone, Katia Bressan, Diego Gazzolo
AIM: Despite advances in perinatal management, there is a flat trend in incidences of respiratory distress syndrome (RDS) and bronchopulmonary dysplasia (BPD) in preterm infants. The main feature of BPD development in preterm infants is an imbalance between increased exposure to free radicals and inadequate antioxidant defences. We investigated the associations between BPD and lipid hydro-peroxide (LOOH) and glutathione (GSH) concentrations in bronchoalveolar lavage fluid (BALF). METHODS: In this prospective study, BALF samples were collected from 44 preterm infants with RDS and oxidative stress markers were measured in 11 with BPD and 33 controls without BPD...
May 2016: Acta Paediatrica
https://www.readbyqxmd.com/read/26406887/maternal-nutrient-restriction-alters-ca2-handling-properties-and-contractile-function-of-isolated-left-ventricle-bundles-in-male-but-not-female-juvenile-rats
#17
Thomas J Harvey, Robyn M Murphy, Janna L Morrison, Giuseppe S Posterino
Intrauterine growth restriction (IUGR), defined as a birth weight below the 10th centile, may be caused by maternal undernutrition, with evidence that IUGR offspring have an increased risk of cardiovascular disease (CVD) in adulthood. Calcium ions (Ca2+) are an integral messenger for several steps associated with excitation-contraction coupling (ECC); the cascade of events from the initiation of an action potential at the surface membrane, to contraction of the cardiomyocyte. Any changes in Ca2+ storage and release from the sarcoplasmic reticulum (SR), or sensitivity of the contractile apparatus to Ca2+ may underlie the mechanism linking IUGR to an increased risk of CVD...
2015: PloS One
https://www.readbyqxmd.com/read/26135761/fetal-growth-impairment-after-first-trimester-chorionic-villus-sampling-a-case-control-study
#18
Alexandros Sotiriadis, Makarios Eleftheriades, Fotios Chatzinikolaou, Kimon Chatzistamatiou, Efstratios Assimakopoulos, Demetrios Chasiakos
OBJECTIVE: The objective of this study is to test if chorionic villus sampling (CVS) is associated with fetal growth impairment, after controlling for maternal and fetal factors. STUDY DESIGN: Case-control study of singleton fetuses whose mothers had undergone CVS (N = 442) and 2969 controls. The primary outcomes were the prevalence of birthweight < 10th centile and birthweight <3rd centile; the prevalence of preeclampsia was the secondary outcome. Tested predictors in logistic regression analysis included CVS, free beta-hCG MoMs, PAPP-A MoMs, first-trimester mean uterine artery pulsatility index (PI) z-scores, maternal height, BMI, age, and smoking...
2016: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/25968056/elevated-plasma-norepinephrine-level-and-sick-sinus-syndrome-in-patients-with-lone-atrial-fibrillation
#19
COMPARATIVE STUDY
Kentaro Yoshida, Takashi Kaneshiro, Yoko Ito, Akira Kimata, Naoya Koda, Daigo Hiraya, Masako Baba, Masako Misaki, Noriyuki Takeyasu, Iwao Yamaguchi, Kazutaka Aonuma
OBJECTIVE: Plasma norepinephrine (NE) level can be a guide to mortality in patients with heart failure. This study aimed to evaluate the significance of plasma NE level compared with plasma natriuretic peptides (atrial natriuretic peptide (ANP) and brain natriuretic peptide (BNP)) levels in patients with atrial fibrillation (AF). METHODS: Included in this study were 137 consecutive patients referred for catheter ablation of lone AF (paroxysmal in 90 and persistent in 47 patients)...
July 2015: Heart: Official Journal of the British Cardiac Society
https://www.readbyqxmd.com/read/25518523/-using-l-carnitine-to-improve-the-adaptation-of-young-athletes-to-physical-load-and-the-correction-of-stress-induced-cardiomyopathy
#20
RANDOMIZED CONTROLLED TRIAL
L A Balykova, A A Shirokova, O M Soldatov, N V Shchekina, A N Urziaeva
The mechanisms of L-carnitine action and ergogenic pleiotropic effects of drugs, which play important role in sports medicine are described. Results of a comparative, parallel-group randomized clinical trial of L-carnitine (Elkar, PikFarma) in young athletes (football players, walkers) are reported. Elkar increases the body adaptation to physical stress and has a pronounced therapeutic effect in athletes with stress-induced cardiomyopathy by reducing the representation of potentially dangerous arrhythmia (sinus bradycardia less than 2 - 5 centile, 2nd degree atrioventricular block type II, T-wave inversion in more than 2 leads, and/or ST segment depression) and severity of benign ECG disturbances and hemodynamic changes, and decreasing the concentration of biochemical markers of myocardial damage (troponin, natriuretic peptide, creatine phosphokinase MB fraction) and cortisol...
2014: Eksperimental'naia i Klinicheskaia Farmakologiia
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