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https://www.readbyqxmd.com/read/28334964/mutations-in-the-leukemia-inhibitory-factor-receptor-lifr-gene-and-lifr-deficiency-cause-urinary-tract-malformations
#1
Anne Kosfeld, Frank Brand, Anna-Carina Weiss, Martin Kreuzer, Michaela Goerk, Helge Martens, Stephanie Schubert, Anne-Kathrin Schäfer, Vera Riehmer, Imke Hennies, Jan Hinrich Bräsen, Lars Pape, Kerstin Amann, Lars Krogvold, Anna Bjerre, Christoph Daniel, Andreas Kispert, Dieter Haffner, Ruthild G Weber
Congenital anomalies of the kidneys and urinary tract (CAKUT) are the most common cause of chronic kidney disease in children. As CAKUT is a genetically heterogeneous disorder and most cases are genetically unexplained, we aimed to identify new CAKUT causing genes. Using whole-exome sequencing and trio-based de novo analysis, we identified a novel heterozygous de novo frameshift variant in the leukemia inhibitory factor receptor (LIFR) gene causing instability of the mRNA in a patient presenting with bilateral CAKUT and requiring kidney transplantation at one year of age...
March 8, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28333275/anti-m%C3%A3-llerian-hormone-inhibits-activation-and-growth-of-bovine-ovarian-follicles-in-vitro-and-is-localized-to-growing-follicles
#2
M Y Yang, R A Cushman, J E Fortune
STUDY QUESTION: Does anti-Müllerian hormone (AMH) inhibit activation (initiation of growth) of primordial follicles and attenuate the growth of primary follicles in cattle, an excellent animal model for human ovarian follicular development? SUMMARY ANSWER: AMH inhibited activation of bovine primordial follicles and attenuated the growth of activated follicles in vitro. WHAT IS KNOWN ALREADY: In mice null mutant for AMH, the pool of primordial follicles is depleted prematurely and AMH inhibits follicle activation in vitro...
March 17, 2017: Molecular Human Reproduction
https://www.readbyqxmd.com/read/28324810/the-emotional-process-from-diagnosis-to-birth-following-a-prenatal-diagnosis-of-fetal-anomaly-a-qualitative-study-of-messages-in-online-discussion-boards
#3
Tommy Carlsson, Veronica Starke, Elisabet Mattsson
OBJECTIVE: to explore written statements found in online discussion boards where parents currently expecting, or with previous experience of expecting, a child with a prenatally diagnosed congenital anomaly communicate about their emotional process from diagnosis to birth. DESIGN: cross-sectional qualitative study of messages in public online discussion boards. SETTING: Swedish public discussion boards about reproductive subjects. SAMPLE: ten pregnant women and eight parents (of children with prenatal diagnoses) who had written 852 messages in five threads in Swedish online discussion boards identified via systematic searches...
March 2, 2017: Midwifery
https://www.readbyqxmd.com/read/28324053/hepatic-insulin-resistance-and-altered-gluconeogenic-pathway-in-premature-baboons
#4
Lisa McGill-Vargas, Amalia Gastaldelli, Hanyu Liang, Diana Anzueto Guerra, Teresa Johnson-Pais, Steven Seidner, Donald McCurnin, Giovanna Muscogiuri, Ralph DeFronzo, Nicolas Musi, Cynthia Blanco
Premature infants have altered glucose regulation early in life and increased risk for diabetes in adulthood. Although prematurity leads to an increased risk of diabetes and metabolic syndrome in adult life, the role of hepatic glucose regulation and adaptation to an early extra-uterine environment in preterm infants remain unknown. The purpose of this study was to investigate developmental differences in glucose metabolism, hepatic protein content and gene expression of key insulin signaling/gluconeogenic molecules...
January 17, 2017: Endocrinology
https://www.readbyqxmd.com/read/28324040/cord-blood-adipocyte-fatty-acid-binding-protein-levels-correlate-with-gestational-age-and-birth-weight-in-neonates
#5
Kyoung Eun Joung, Sule Umit Cataltepe, Zoe Michael, Helen Christou, Christos S Mantzoros
Context: Infants born small for gestational age (SGA) have increased risk for obesity and metabolic syndrome in future life, but the underlying mechanisms are not fully elucidated. Adipocyte fatty acid binding protein, is an adipokine that has been implicated in modulation of insulin sensitivity and lipid metabolism. Higher plasma AFABP levels are associated with increased risk of metabolic syndrome and cardiovascular morbidity in adults. Alterations in AFABP levels during fetal growth have not been characterized...
January 31, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28322282/maternal-immune-activation-dysregulation-of-the-fetal-brain-transcriptome-and-relevance-to-the-pathophysiology-of-autism-spectrum-disorder
#6
M V Lombardo, H M Moon, J Su, T D Palmer, E Courchesne, T Pramparo
Maternal immune activation (MIA) via infection during pregnancy is known to increase risk for autism spectrum disorder (ASD). However, it is unclear how MIA disrupts fetal brain gene expression in ways that may explain this increased risk. Here we examine how MIA dysregulates rat fetal brain gene expression (at a time point analogous to the end of the first trimester of human gestation) in ways relevant to ASD-associated pathophysiology. MIA downregulates expression of ASD-associated genes, with the largest enrichments in genes known to harbor rare highly penetrant mutations...
March 21, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28321847/antenatal-corticosteroids-for-accelerating-fetal-lung-maturation-for-women-at-risk-of-preterm-birth
#7
REVIEW
Devender Roberts, Julie Brown, Nancy Medley, Stuart R Dalziel
BACKGROUND: Respiratory morbidity including respiratory distress syndrome (RDS) is a serious complication of preterm birth and the primary cause of early neonatal mortality and disability. While researching the effects of the steroid dexamethasone on premature parturition in fetal sheep in 1969, Liggins found that there was some inflation of the lungs of lambs born at gestations at which the lungs would be expected to be airless. Liggins and Howie published the first randomised controlled trial in humans in 1972 and many others followed...
March 21, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28320595/brain-death-during-pregnancy-and-prolonged-corporeal-support-of-the-body-a-critical-discussion
#8
Lynne Staff, Meredith Nash
AIM: To discuss corporeal support of the brain-dead pregnant woman and to critically examine important aspects of this complex situation that remain as yet unexplored. BACKGROUND: When brain death of the woman occurs during pregnancy, the fetus may be kept inside the corporeally supported body for prolonged periods to enable continued fetal growth and development. This has been increasingly reported in medical literature since 1982 and has received considerable media attention in the past few years...
March 17, 2017: Women and Birth: Journal of the Australian College of Midwives
https://www.readbyqxmd.com/read/28320484/nutritional-intervention-preconception-and-during-pregnancy-to-maintain-healthy-glucose-metabolism-and-offspring-health-nipper-study-protocol-for-a-randomised-controlled-trial
#9
Keith M Godfrey, Wayne Cutfield, Shiao-Yng Chan, Philip N Baker, Yap-Seng Chong
BACKGROUND: Improved maternal nutrition and glycaemic control before and during pregnancy are thought to benefit the health of the mother, with consequent benefits for infant body composition and later obesity risk. Maternal insulin resistance and glycaemia around conception and in early pregnancy may be key determinants of maternal physiology and placental function, affecting fetal nutrient supply and maternal-feto-placental communications throughout gestation, with implications for later postnatal health...
March 20, 2017: Trials
https://www.readbyqxmd.com/read/28319949/the-impact-of-kidney-development-on-the-life-course-a-consensus-document-for-action
#10
(no author information available yet)
Hypertension and chronic kidney disease (CKD) have a significant impact on global morbidity and mortality. The Low Birth Weight and Nephron Number Working Group has prepared a consensus document aimed to address the relatively neglected issue for the developmental programming of hypertension and CKD. It emerged from a workshop held on April 2, 2016, including eminent internationally recognized experts in the field of obstetrics, neonatology, and nephrology. Through multidisciplinary engagement, the goal of the workshop was to highlight the association between fetal and childhood development and an increased risk of adult diseases, focusing on hypertension and CKD, and to suggest possible practical solutions for the future...
March 21, 2017: Nephron
https://www.readbyqxmd.com/read/28319655/meeting-nutritional-needs-in-the-first-1000-days-a-place-for-small-quantity-lipid-based-nutrient-supplements
#11
Seth Adu-Afarwuah, Anna Lartey, Kathryn G Dewey
The first 1000 days of life is marked by intense metabolic activity and tissue deposition. The increased nutritional needs during this period, and the challenges to meeting them, are often not understood or appreciated. Here, we describe the nutritional needs during the first 1000 days, highlight the challenges to meeting these needs in developing countries, outline intervention strategies, and examine the consumption of small-quantity lipid-based nutrient supplements (SQ-LNS) as a promising strategy. In low-income settings, the challenge to meeting nutritional needs during the first 1000 days is worsened by overreliance on cereal-based diets of low nutrient density and high prevalence of infections and infestations...
March 2017: Annals of the New York Academy of Sciences
https://www.readbyqxmd.com/read/28318556/natural-killer-cells-in-placentation-and-cancer-implications-for-hypertension-during-pregnancy
#12
Heather Yvonne Small, Denise C Cornelius, Tomasz J Guzik, Christian Delles
Hypertension during pregnancy is the most common medical condition encountered during gestation. Despite this, knowledge of the mechanisms that underlie the disease and the development of new therapies are limited. Hypertension during pregnancy and some forms of cancer confer an increased risk to the development of cardiovascular disease later in life; one mechanism which may link these conditions is the involvement of natural killer (NK) cells. Whilst immunology and immunotherapy are well-developed areas in oncology; the complex mechanisms of the immune system in health and disease at the maternal-fetal interface are less well-defined...
March 7, 2017: Placenta
https://www.readbyqxmd.com/read/28317816/hemophagocytic-syndrome-secondary-to-tuberculosis-at-24-week-gestation
#13
Alexandra Arteaga Fernández, David Fernández de Velasco Pérez, M C Jiménez Fournier, J C Moreno Del Prado, B Paraíso Torras, M L Cañete Palomo
Hemophagocytic syndrome is a life-threatening disease characterized by the uncontrolled activation of macrophages, resulting in hemophagocytosis of blood cells in the bone marrow. A 20-year-old gravida at 23-week and 5-day gestation was admitted to hospital to evaluate fever up to 104°F of unknown origin, moderate cytopenia, and elevated levels of liver enzymes. Bone marrow biopsy confirmed hemophagocytic syndrome, and polymerase chain reaction came back positive for Mycobacterium tuberculosis. Supportive care and tuberculosis treatment resulted in clinical improvement...
January 2017: International Journal of Mycobacteriology
https://www.readbyqxmd.com/read/28317126/pharmacokinetics-of-ceftiofur-sodium-in-equine-pregnancy
#14
M L Macpherson, S Giguère, M A Pozor, E Runcan, T W Vickroy, S A Benson, M H T Troedsson, J N Hatzel, J Larson, E Vanden Berg, A A Kelleman, L C Sanchez, M M LeBlanc
Eleven pregnant pony mares (D270-326) were administered ceftiofur sodium intramuscularly at 2.2 mg/kg (n = 6) or 4.4 mg/kg (n = 5), once daily. Plasma was obtained prior to ceftiofur administration and at 0.5, 1, 2, 4, 8, 12, and 24 hr after administration. Eight pony mares were re-enrolled in the study at least 3 days from expected foaling to ensure steady-state concentrations of drug at the time of foaling. Mares were administered ceftiofur sodium (4.4 mg/kg, IM) daily until foaling. Parturition was induced using oxytocin 1 hr after ceftiofur sodium administration...
March 19, 2017: Journal of Veterinary Pharmacology and Therapeutics
https://www.readbyqxmd.com/read/28315889/patterns-of-growth-in-early-childhood-and-infectious-disease-and-nutritional-determinants
#15
Robert E Black
The physical growth of young children in low- and middle-income countries is reduced compared to international standards. The deviations in growth in both weight and height are greatest in the first 2 years of life and this has serious consequences for child mortality, development, adult stature, and health. The determinants of these patterns of growth faltering include intergenerational factors, such as maternal height, short birth interval, and conditions in pregnancy, including maternal underweight and anemia...
2017: Nestlé Nutrition Institute Workshop Series
https://www.readbyqxmd.com/read/28315627/cytological-evaluation-of-the-nasal-mucosa-in-neonates-exposed-to-tobacco-smoke-during-fetal-life
#16
(no author information available yet)
OBJECTIVES: The objective of this study is to assess the cytological picture of the nasal mucosa of neonates born to mothers who are active smokers, passive smokers and non-smokers. METHODS: A prospective study was conducted in a group of 86 neonates born between 23 and 41 weeks of gestation. The assignation of neonates to one of the three aforementioned groups was based on a questionnaire concerning exposure to tobacco smoke, and on the concentration of cotinine in maternal urine...
November 19, 2016: Neuro Endocrinology Letters
https://www.readbyqxmd.com/read/28302957/relationship-between-asymmetric-dimethylarginine-in-umbilical-cord-plasma-and-birth-weight-follows-a-u-shaped-curve
#17
Junji Takaya, Yuko Tanabe, Yuichi Kuroyanagi, Kazunari Kaneko
Asymmetric dimethylarginine (ADMA) is a nonselective nitric oxide (NO) synthase inhibitor associated with cardiovascular and metabolic disorders. NO regulates placental blood flow, which plays an important role in fetal growth. Many epidemiological studies have disclosed that restricted fetal growth is associated with an increased risk of insulin resistance in adult life. We studied the relationship between ADMA in cord blood and birth size. Nine small for gestational age (SGA) and 32 appropriate for gestational age (AGA) infants were studied...
March 7, 2017: Endocrine Journal
https://www.readbyqxmd.com/read/28302642/pregnancy-and-the-risk-of-spontaneous-coronary-artery-dissection-an-analysis-of-120-contemporary-cases
#18
Ofer Havakuk, Sorel Goland, Anil Mehra, Uri Elkayam
BACKGROUND: Because of the rarity of this condition, information on pregnancy-associated spontaneous coronary artery dissection is limited. We reviewed a large number of contemporary pregnancy-associated spontaneous coronary artery dissection cases in an attempt to define the clinical characteristics and provide management recommendations. METHODS AND RESULTS: A literature search for cases of pregnancy-associated spontaneous coronary artery dissection reported between 2000 and 2015 included 120 cases; 75% presented with ST-segment-elevation myocardial infarction, and 80% had anterior myocardial infarction...
March 2017: Circulation. Cardiovascular Interventions
https://www.readbyqxmd.com/read/28302240/a-rare-fetal-firearm-injury
#19
Imran Hashim, Nabila Talat
Firearm injury (FAI) in pregnant women is reported in the literature; however, no reference to date was found to address the neonatal abdominal surgery performed after maternal FAI. FAI during fetal life is extremely rare and very few cases have been reported. We present a report of a 37-week gestation newborn whose mother had an accidental FAI. The neonate was delivered by emergency caesarian section along with emergency laparotomy of the newborn. The baby presented at eight hours of life, who was managed surgically in emergency for multiple small and large bowel perforations and a piece of bullet was recovered from anterior part of thigh...
March 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28301886/geburtshilfe-hypertensive-erkrankungen-in-der-schwangerschaft
#20
Bigna S Buddeberg, Thierry Girard
Hypertensive disorders of pregnancy are one of the most common complications in pregnancy. They are associated with a high maternal, fetal and neonatal morbidity and mortality. 99 % of all maternal deaths occur in developing countries, but we should not forget that even in highly developed countries mothers still die from the complications of hypertensive disorders of pregnancy. This term encompasses chronic hypertension as well as pregnancy specific disorders such as gestational hypertension and preeclampsia...
March 2017: Anästhesiologie, Intensivmedizin, Notfallmedizin, Schmerztherapie: AINS
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