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https://www.readbyqxmd.com/read/28815891/cystic-kidneys-in-fetal-walker-warburg-syndrome-with-pomt2-mutation-intrafamilial-phenotypic-variability-in-four-siblings-and-review-of-literature
#1
Marwa M Nabhan, Nour ElKhateeb, Daniela A Braun, Sungho Eun, Sahar N Saleem, Heon YungGee, Friedhelm Hildebrandt, Neveen A Soliman
Walker-Warburg syndrome (WWS) is a severe form of congenital muscular dystrophy secondary to α-dystroglycanopathy with muscle, brain, and eye abnormalities often leading to death in the first weeks of life. It is transmitted in an autosomal recessive pattern, and has been linked to at least 15 different genes; including protein O-mannosyltransferase 1 (POMT1), protein O-mannosyltransferase 2 (POMT2), protein O-mannose beta-1,2-N acetylglucosaminyltransferase (POMGNT1), fukutin (FKTN), isoprenoid synthase domain-containing protein (ISPD), and other genes...
August 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28812466/florid-intussusceptive-like-microvascular-dysangiogenesis-in-a-preterm-lung
#2
Monique E De Paepe, Merline Kocheekkaran V Benny, Lauren Priolo, Francois I Luks, Svetlana Shapiro
The cellular mechanisms underlying the microvascular dysangiogenesis of bronchopulmonary dysplasia (chronic lung disease of the newborn) remain largely undetermined. We report unusual pulmonary vascular findings in a 27-week-gestation male newborn who died on the second day of life from intractable respiratory failure, following a pregnancy complicated by prolonged membrane rupture and persistent severe oligohydramnios. As expected, postmortem examination revealed pulmonary hypoplasia (lung/body weight ratio: 2...
September 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28811816/unicornuate-uterus-with-a-rudimentary-horn-diagnosed-at-scheduled-third-cesarean-section
#3
Serkan Bodur, Ulas Fidan, Mehmet Ferdi Kinci, Kazim Emre Karasahin
A unicornuate uterus with a rudimentary horn is an anomaly caused by defective fusion of the Müllerian duct, estimated to occur in one in 76,000 pregnancies. Life threateningly heavy bleeding is a highly expected clinical consequence of such pregnancies. According to the known literature, only two living twins and few living singleton pregnancies have been reported up to now. Here we report on an incidentally diagnosed unicornuate uterus with a communicating rudimentary horn, found during a cesarean section of a gravida 3, parity 2 (G3 P2) patient...
May 2017: Pakistan Journal of Medical Sciences Quarterly
https://www.readbyqxmd.com/read/28811181/beneficial-effects-of-postnatal-choline-supplementation-on-long-term-neurocognitive-deficit-resulting-from-fetal-neonatal-iron-deficiency
#4
Bruce C Kennedy, Phu V Tran, Maulika Kohli, Jamie J Maertens, Jonathan C Gewirtz, Michael K Georgieff
Early-life iron deficiency is a common nutrient condition worldwide and can result in cognitive impairment in adulthood despite iron treatment. In rodents, prenatal choline supplementation can diminish long-term hippocampal gene dysregulation and neurocognitive deficits caused by iron deficiency. Since fetal iron status is generally unknown in humans, we determined whether postnatal choline supplementation exerts similar beneficial effects. Male rat pups were made iron deficient (ID) by providing pregnant and nursing dams an ID diet (3-6ppm Fe) from gestational day (G) 3 through postnatal day (P) 7, and an iron-sufficient (IS) diet (200ppm Fe) thereafter...
August 12, 2017: Behavioural Brain Research
https://www.readbyqxmd.com/read/28808079/the-impact-of-iugr-on-pancreatic-islet-development-and-%C3%AE-cell-function
#5
Brit H Boehmer, Sean W Limesand, Paul J Rozance
Placental insufficiency is a primary cause of intrauterine growth restriction (IUGR). IUGR increases the risk of developing type 2 diabetes mellitus (T2DM) throughout life, which indicates that insults from placental insufficiency impair β-cell development during the perinatal period because β-cells have a central role in the regulation of glucose tolerance. The severely IUGR fetal pancreas is characterized by smaller islets, less β-cells, and lower insulin secretion. Because of the important associations among impaired islet growth, β-cell dysfunction, impaired fetal growth, and the propensity for T2DM, significant progress has been made in understanding the pathophysiology of IUGR and programing events in the fetal endocrine pancreas...
August 14, 2017: Journal of Endocrinology
https://www.readbyqxmd.com/read/28805919/cows-exposed-to-heat-stress-during-fetal-life-exhibit-improved-thermal-tolerance
#6
B M S Ahmed, U Younas, T O Asar, S Dikmen, P J Hansen, G E Dahl
Maternal heat stress during late gestation affects calf function during postnatal life. The objective of the present study was to evaluate whether calves that experience heat stress in utero have altered thermoregulatory responses to acute heat stress later in life. Specifically, the hypothesis was that heat stress in utero would improve the response to acute heat stress at maturity. Females were born to dams exposed to heat stress or cooled during late gestation preceding their birth. All animals were raised postnatally under identical management...
August 2017: Journal of Animal Science
https://www.readbyqxmd.com/read/28803192/early-life-secondhand-smoke-exposure-assessed-by-hair-nicotine-biomarker-may-reduce-children-s-neurodevelopment-at-2years-of-age
#7
Nur Nadia Mohamed, See Ling Loy, Poh Ying Lim, Abdullah Al Mamun, Hamid Jan Jan Mohamed
Exposure to secondhand smoke (SHS) can affect fetal brain development as well as subsequent neurodevelopment. This study aimed to determine the association between prenatal and postnatal SHS exposure with children's neurodevelopment at 2years of age. Among 107 mother-child pairs from a Malaysia prospective cohort, prenatal and postnatal SHS exposure was determined based on maternal and child hair nicotine concentrations. Multiple linear regressions were used to determine the association between prenatal and postnatal levels of nicotine in maternal and children's' hair with children's neurodevelopment...
August 10, 2017: Science of the Total Environment
https://www.readbyqxmd.com/read/28801196/prenatal-fine-particulate-exposure-and-early-childhood-asthma-effect-of-maternal-stress-and-fetal-gender
#8
Alison Lee, Hsiao-Hsien Leon Hsu, Yueh-Hsiu Mathilda Chiu, Sonali Bose, Maria José Rosa, Itai Kloog, Ander Wilson, Joel Schwartz, Sheldon Cohen, Brent A Coull, Robert O Wright, Rosalind J Wright
BACKGROUND: The impact of prenatal ambient air pollution on child asthma may be modified by maternal stress, child sex and exposure dose and timing. OBJECTIVE: We prospectively examined associations between co-exposure to prenatal particulate matter with an aerodynamic diameter of less than 2.5 microns (PM2.5) and maternal stress on childhood asthma (n=736). METHODS: Daily PM2.5 exposure during pregnancy was estimated using a validated satellite-based spatio-temporally resolved prediction model...
August 8, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28796996/call-for-caution-neonatal-portal-vein-thrombosis-following-enbucrilate-embolization-of-placental-chorioangioma
#9
Hian Yan Voon, Rafaie Amin, Juan Loong Kok, Kia Sing Tan
We illustrate a case of giant placental chorioangioma presenting at 20 weeks of gestation. Subsequent monitoring revealed enlargement of the lesion, associated with fetal anemia and cardiac failure, prompting in utero intervention. Amnioreduction followed by percutaneous embolization of the tumour with enbucrilate:Lipiodol Ultra-Fluid™ at a dilution of 1:5 was successfully performed. No repeat intervention or additional supportive measures were required throughout pregnancy and the baby was delivered at 36 weeks of gestation, following spontaneous labour...
August 11, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28796631/endocrine-disruption-in-human-fetal-testis-explants-by-individual-and-combined-exposures-to-selected-pharmaceuticals-pesticides-and-environmental-pollutants
#10
Pierre Gaudriault, Séverine Mazaud-Guittot, Vincent Lavoué, Isabelle Coiffec, Laurianne Lesné, Nathalie Dejucq-Rainsford, Martin Scholze, Andreas Kortenkamp, Bernard Jégou
BACKGROUND: Numerous chemicals are capable of disrupting androgen production, but the possibility that they might act together to produce effects greater than those of the most effective component in the mixture has not been studied directly in human tissues. Suppression of androgen synthesis in fetal life has been associated with testis maldescent, malformations of the genitalia at birth, and poor semen quality later in life. OBJECTIVES: Our aim was to investigate whether chemicals can act together to disrupt androgen production in human fetal testis explants and to evaluate the importance of mixture effects when characterizing the hazard of individual chemicals...
August 4, 2017: Environmental Health Perspectives
https://www.readbyqxmd.com/read/28795220/achieving-and-maintaining-lung-volume-in-the-preterm-infant-from-the-first-breath-to-the-nicu
#11
REVIEW
Gianluca Lista, Andrés Maturana, Fernando R Moya
Please check if statements under Abstract section are presented correctly.The main goal for the neonatologist is to facilitate the adaptation to extra-uterine life during initial transition, while minimizing lung injury opening and protecting the premature lung from the first breath onwards. An appropriate management from birth should lead to the achievement of an early functional residual capacity (FRC), and the following steps should aim at maintaining an adequate lung volume. To date, different strategies are available to optimize fetal-neonatal transition and promote lung recruitment...
August 10, 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28793237/fetal-sex-dependent-genomic-responses-in-the-circulating-lymphocytes-of-arsenic-exposed-pregnant-women-in-new-hampshire
#12
Paige A Bommarito, Elizabeth Martin, Lisa Smeester, Thomas Palys, Emily R Baker, Margaret R Karagas, Rebecca C Fry
Exposure to inorganic arsenic (iAs) during pregnancy is associated with adverse health outcomes present both at birth and later in life. A mechanism may include epigenetic and genomic alteration in fetal genes involved in immune functioning. To investigate the role of the maternal immune response to in utero iAs exposure, we conducted an analysis of immune-related genes in pregnant women from the New Hampshire Birth Cohort Study. A set of 31 genes were identified with altered expression in association with levels of urinary total arsenic, urinary iAs, urinary monomethylated arsenic and urinary dimethylated arsenic...
August 6, 2017: Reproductive Toxicology
https://www.readbyqxmd.com/read/28783840/cranial-asymmetry-versus-microcephaly-implications-for-practice-during-the-zika-virus-epidemic
#13
Sophia Tsakiri, Nikolaos Zacharias, Jose Garcia, Lynnette Mazur
Congenital microcephaly can be the result of genetic, teratogenic, mechanical, infectious, and other factors affecting the fetal brain. Transient craniofacial asymmetries and cranial molding can mimic congenital microcephaly caused by brain abnormalities or neurotropic infectious pathogens, including Zika. We present two neonates who were born with head circumference at or below the 3rd percentile for gestational age, and had improving head measurements at discharge from the nursery and resolution of the microcephaly by the second month of life...
August 1, 2017: Texas Medicine
https://www.readbyqxmd.com/read/28782473/importance-of-hemolysis-and-its-clinical-detection-in-neonates-with-hyperbilirubinemia
#14
Ronald J Wong, Vinod K Bhutani, David K Stevenson
Neonatal hyperbilirubinemia is generally a benign transitional phenomenon, and may even be a protective antioxidant mechanism for human neonates who may be vulnerable to the oxidative stress (compared to life in utero) encountered during birth an extra-uterine oxidative environment (1, 2). The pathophysiologic impact of neonatal unconjugated hyperbilirubinemia has been well reviewed in this supplement (see Jon fill-in). The severity of hyperbilirubinemia varies due to the magnitude of an imbalance between two major contributing processes: (i) an increase bilirubin production rate due to an increase in heme turnover (two to three times that of an adult) due to the degradation of fetal red blood cells (RBCs), which have a shortened lifespan, after birth (3, 4); and/or (ii) a diminished ability of the immature newborn liver to conjugate bilirubin and therefore excrete bilirubin in bile...
August 7, 2017: Current Pediatric Reviews
https://www.readbyqxmd.com/read/28780000/systemic-infusions-of-anti-interleukin-1%C3%AE-neutralizing-antibodies-reduce-short-term-brain-injury-after-cerebral-ischemia-in-the-ovine-fetus
#15
Xiaodi Chen, Virginia Hovanesian, Syed Naqvi, Yow-Pin Lim, Richard Tucker, John E Donahue, Edward G Stopa, Barbara S Stonestreet
Perinatal hypoxic-ischemic reperfusion (I/R)-related brain injury is a leading cause of neurologic morbidity and life-long disability in children. Infants exposed to I/R brain injury develop long-term cognitive and behavioral deficits, placing a large burden on parents and society. Therapeutic strategies are currently not available for infants with I/R brain damage, except for hypothermia, which can only be used in full term infants with hypoxic-ischemic encephalopathy (HIE). Moreover, hypothermia is only partially protective...
August 2, 2017: Brain, Behavior, and Immunity
https://www.readbyqxmd.com/read/28770124/omphalocele-and-gastroschisis-in-newborns-over-16-years-of-experience-from-a-single-clinic
#16
Shunusuke Watanabe, Tatuya Suzuki, Fujio Hara, Toshihiro Yasui, Naoko Uga, Atuki Naoe
Infants born with potentially life-threatening conditions of omphalocele and gastroschisis may require long-term hospitalization. We aimed to compare the outcomes of these two conditions occurring over a 16-year period (2001-16). It is a retrospective study of 19 newborns undergoing surgery for these two abdominal wall defects (8 patients with omphalocele and 11 cases of gastroschisis). The average birth weights for the newborns with omphaloceles and gastroschisis were 2554.5 g and 2248.6 g respectively. Associated anomalies included trisomy 18, Beckwith-Wiedemann syndrome, congenital heart disease, Meckel's diverticulum, inguinal hernias, renal deformities, limb deformities, cryptorchidism, body stalk anomalies, and closed gastroschisis...
April 2017: Journal of Neonatal Surgery
https://www.readbyqxmd.com/read/28768735/therapeutic-strategies-for-spinal-muscular-atrophy-smn-and-beyond
#17
REVIEW
Melissa Bowerman, Catherina G Becker, Rafael J Yáñez-Muñoz, Ke Ning, Matthew J A Wood, Thomas H Gillingwater, Kevin Talbot
Spinal muscular atrophy (SMA) is a devastating neuromuscular disorder characterized by loss of motor neurons and muscle atrophy, generally presenting in childhood. SMA is caused by low levels of the survival motor neuron protein (SMN) due to inactivating mutations in the encoding gene SMN1 A second duplicated gene, SMN2, produces very little but sufficient functional protein for survival. Therapeutic strategies to increase SMN are in clinical trials, and the first SMN2-directed antisense oligonucleotide (ASO) therapy has recently been licensed...
August 1, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28767982/description-of-an-oral-chagas-disease-outbreak-in-venezuela-including-a-vertically-transmitted-case
#18
Belkisyolé Alarcón de Noya, Gladymar Pérez-Chacón, Zoraida Díaz-Bello, Sonia Dickson, Arturo Muñoz-Calderón, Carlos Hernández, Yadira Pérez, Luciano Mauriello, Eyleen Moronta
We describe the eleventh major outbreak of foodborne Trypanosoma cruzi transmission in urban Venezuela, including evidence for vertical transmission from the index case to her fetus. After confirming fetal death at 24 weeks of gestation, pregnancy interruption was performed. On direct examination of the amniotic fluid, trypomastigotes were detected. T. cruzi specific-polymerase chain reaction (PCR) also proved positive when examining autopsied fetal organs. Finally, microscopic fetal heart examination revealed amastigote nests...
August 2017: Memórias do Instituto Oswaldo Cruz
https://www.readbyqxmd.com/read/28763732/exposure-to-air-pollution-and-noise-from-road-traffic-and-risk-of-congenital-anomalies-in-the-danish-national-birth-cohort
#19
Marie Pedersen, Ester Garne, Nete Hansen-Nord, Dorrit Hjortebjerg, Matthias Ketzel, Ole Raaschou-Nielsen, Anne-Marie Nybo Andersen, Mette Sørensen
BACKGROUND: Ambient air pollution has been associated with certain congenital anomalies, but few studies rely on assessment of fine-scale variation in air quality and associations with noise from road traffic are unexplored. METHODS: Among 84,218 liveborn singletons (1997-2002) from the Danish National Birth Cohort with complete covariate data and residential address history from conception until birth, we identified major congenital anomalies in 4018 children. Nitrogen dioxide (NO2) and noise from road traffic (Lden) burden during fetal life was modeled...
July 29, 2017: Environmental Research
https://www.readbyqxmd.com/read/28763065/genome-wide-association-analysis-identifies-common-variants-influencing-infant-brain-volumes
#20
K Xia, J Zhang, M Ahn, S Jha, J J Crowley, J Szatkiewicz, T Li, F Zou, H Zhu, D Hibar, P Thompson, P F Sullivan, M Styner, J H Gilmore, R C Knickmeyer
Genome-wide association studies (GWAS) of adolescents and adults are transforming our understanding of how genetic variants impact brain structure and psychiatric risk, but cannot address the reality that psychiatric disorders are unfolding developmental processes with origins in fetal life. To investigate how genetic variation impacts prenatal brain development, we conducted a GWAS of global brain tissue volumes in 561 infants. An intronic single-nucleotide polymorphism (SNP) in IGFBP7 (rs114518130) achieved genome-wide significance for gray matter volume (P=4...
August 1, 2017: Translational Psychiatry
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