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https://www.readbyqxmd.com/read/27921429/-congenital-hyperinsulinism-loss-of-b-cell-self-control
#1
Jan Lebl, Klára Roženková, Štěpánka Průhová
Congenital hyperinsulinism is a serious blood glucose regulation defect that interferes with brain development, leading to mental retardation, neurological sequelae and secondary epilepsy and ultimately may be life-threatening. Congenital hyperinsulinism (CHI) is caused by genetic defects of regulation of insulin secretion that induce insulin oversecretion in intrauterine life and postnatally. The clinical consequence is fetal macrosomia and subsequently neonatal and infantile hypoglycaemia. The most severe form is caused by biallelic mutations of KCNJ11 and ABCC8 genes that encode both potassium channel subunits, whereas their heterozygous mutations as well as enzymatic defects (GLUD1, HADH, GCK) lead to milder presentation...
2016: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/27921031/amniotic-epithelial-cells-a-new-tool-to-combat-aging-and-age-related-diseases
#2
Clara Di Germanio, Michel Bernier, Rafael de Cabo, Barbara Barboni
The number of elderly people is growing at an unprecedented rate and this increase of the aging population is expected to have a direct impact on the incidence of age-related diseases and healthcare-associated costs. Thus, it is imperative that new tools are developed to fight and slow age-related diseases. Regenerative medicine is a promising strategy for the maintenance of health and function late in life; however, stem cell-based therapies face several challenges including rejection and tumor transformation...
2016: Frontiers in Cell and Developmental Biology
https://www.readbyqxmd.com/read/27917461/intussusceptive-angiogenesis-and-expression-of-tie-receptors-during-porcine-metanephric-kidney-development
#3
Anastasia Logothetidou, Tim Vandecasteele, Els Van Mulken, Kimberley Vandevelde, Pieter Cornillie
Intussusceptive angiogenesis (IA) is required for normal embryonic vascular development. The Tie family of receptors and their ligands, the angiopoietins, play an important role in the growth or regression of blood vessels which are important not only during development but also throughout an organism's life. The presence of IA was investigated in glomerular capillaries of the fetal porcine metanephros using Mercox II resin casts. The first signs of IA were observed in stage III glomeruli. Stage IV and V glomeruli showed numerous signs of aligned pillar formation and their successive merging to delineate the vascular entities...
December 5, 2016: Histology and Histopathology
https://www.readbyqxmd.com/read/27917382/updates-on-the-methodological-approaches-for-carrying-out-an-in-depth-study-of-the-cardiac-conduction-system-and-the-autonomic-nervous-system-of-victims-of-sudden-unexplained-fetal-and-infant-death
#4
Graziella Alfonsi, Marina Crippa
This article contains a set of protocols for histopathological techniques that can be used for carrying out in-depth studies of cases of sudden infant death syndrome and sudden intrauterine unexplained fetal death syndrome. In order to enable researchers to advance hypotheses regarding the causes of the unexpected death of infants and fetuses, the authors propose three innovative and accurate methodologies for studying the cardiac conduction system, the peripheral cardiac nervous system, and the central autonomic nervous system...
2016: Frontiers in Medicine
https://www.readbyqxmd.com/read/27911332/type-0-spinal-muscular-atrophy-further%C3%A2-delineation-of-prenatal-and%C3%A2-postnatal-features-in-16-patients
#5
Sarah Grotto, Jean-Marie Cuisset, Stéphane Marret, Séverine Drunat, Patricia Faure, Séverine Audebert-Bellanger, Isabelle Desguerre, Vincent Flurin, Anne-Gaëlle Grebille, Anne-Marie Guerrot, Hubert Journel, Gilles Morin, Ghislaine Plessis, Sylvain Renolleau, Joëlle Roume, Brigitte Simon-Bouy, Renaud Touraine, Marjolaine Willems, Thierry Frébourg, Eric Verspyck, Pascale Saugier-Veber
BACKGROUND: Spinal muscular atrophy (SMA) is caused by homozygous inactivation of the SMN1 gene. The SMN2 copy number modulates the severity of SMA. The 0SMN1/1SMN2 genotype, the most severe genotype compatible with life, is expected to be associated with the most severe form of the disease, called type 0 SMA, defined by prenatal onset. OBJECTIVE: The aim of the study was to review clinical features and prenatal manifestations in this rare SMA subtype. METHODS: SMA patients with the 0SMN1/1SMN2 genotype were retrospectively collected using the UMD-SMN1 France database...
November 29, 2016: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/27910705/left-right-differences-in-ovarian-volume-and-antral-follicle-count-in-1423-women-of-reproductive-age
#6
Anne-Sofie Korsholm, Helene Westring Hvidman, Janne Gasseholm Bentzen, Anders Nyboe Andersen, Kathrine Birch Petersen
The aim of this cross-sectional study was to investigate side differences in antral follicle count (AFC) and ovarian volume in left versus right ovaries in relation to chronological and "biological" age, the latter estimated by anti-Müllerian hormone (AMH) levels. The cohort comprised 1423 women: 1014 fertile and 409 infertile. All were examined by transvaginal sonography and serum AMH. Overall the right ovary contained 8.1% more antral follicles (p = 0.002) and had 10.7% larger volume compared with the left (p < 0...
December 2, 2016: Gynecological Endocrinology
https://www.readbyqxmd.com/read/27905410/association-between-preterm-brain-injury-and-exposure-to-chorioamnionitis-during-fetal-life
#7
Devasuda Anblagan, Rozalia Pataky, Margaret J Evans, Emma J Telford, Ahmed Serag, Sarah Sparrow, Chinthika Piyasena, Scott I Semple, Alastair Graham Wilkinson, Mark E Bastin, James P Boardman
Preterm infants are susceptible to inflammation-induced white matter injury but the exposures that lead to this are uncertain. Histologic chorioamnionitis (HCA) reflects intrauterine inflammation, can trigger a fetal inflammatory response, and is closely associated with premature birth. In a cohort of 90 preterm infants with detailed placental histology and neonatal brain magnetic resonance imaging (MRI) data at term equivalent age, we used Tract-based Spatial Statistics (TBSS) to perform voxel-wise statistical comparison of fractional anisotropy (FA) data and computational morphometry analysis to compute the volumes of whole brain, tissue compartments and cerebrospinal fluid, to test the hypothesis that HCA is an independent antenatal risk factor for preterm brain injury...
December 1, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27903408/correlations-between-ceruloplasmin-lactoferrin-and-myeloperoxidase-in-meconium
#8
Ewa Skarżyńska, Joanna Żytyńska-Daniluk, Barbara Lisowska-Myjak
BACKGROUND AND AIMS: Oxidative stress and the generation of reactive oxygen/nitrogen species has a known significant impact on intrauterine fetal growth and the risk of metabolic diseases in adulthood. Compounds accumulated in fetal meconium may be a source of information about the oxidoreductive status during the intrauterine development. Three metal-containing proteins ceruloplasmin (CP), lactoferrin (LF) and myeloperoxidase (MPO) constitute the complementary panel modulating oxidative stress...
November 23, 2016: Journal of Trace Elements in Medicine and Biology
https://www.readbyqxmd.com/read/27899442/early-generated-b1-b-cells-with-restricted-bcrs-become-chronic-lymphocytic-leukemia-with-continued-c-myc-and-low-bmf-expression
#9
Kyoko Hayakawa, Anthony M Formica, Joni Brill-Dashoff, Susan A Shinton, Daiju Ichikawa, Yan Zhou, Herbert C Morse, Richard R Hardy
In mice, generation of autoreactive CD5(+) B cells occurs as a consequence of BCR signaling induced by (self)-ligand exposure from fetal/neonatal B-1 B cell development. A fraction of these cells self-renew and persist as a minor B1 B cell subset throughout life. Here, we show that transfer of early generated B1 B cells from Eμ-TCL1 transgenic mice resulted in chronic lymphocytic leukemia (CLL) with a biased repertoire, including stereotyped BCRs. Thus, B1 B cells bearing restricted BCRs can become CLL during aging...
November 29, 2016: Journal of Experimental Medicine
https://www.readbyqxmd.com/read/27899160/physiopathology-of-vesico-ureteral-reflux
#10
REVIEW
Salvatore Arena, Roberta Iacona, Pietro Impellizzeri, Tiziana Russo, Lucia Marseglia, Eloisa Gitto, Carmelo Romeo
Vescico-Ureteral Reflux (VUR) is a common condition in childhood, caused by a congenital anomaly at the Vescico-Ureteral Junction (VUJ) level. It seems that the main cause could be an abnormal embryological development occurred during the early stage of fetal life.Refluxing ureteral endings show structural and functional anomalies: previous studies have shown a significant decrease in alfa actin, miosin and desmin contents as well as an high rate of atrophy and muscular degeneration with disorganized muscular fibres...
November 29, 2016: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/27898587/maternal-epigenetics-and-fetal-and-neonatal-growth
#11
Sofia Kitsiou-Tzeli, Maria Tzetis
PURPOSE OF REVIEW: The article provides an update on new insights of factors altering inherited maternal epigenome that ultimately affect fetal and neonatal growth. RECENT FINDINGS: A number of new publications have identified mechanisms through which maternal nutrition, environmental exposures such as stress and toxic substances altering expression of imprinted genes during pregnancy can influence fetal and neonatal phenotype and susceptibility to disease development later in life...
November 24, 2016: Current Opinion in Endocrinology, Diabetes, and Obesity
https://www.readbyqxmd.com/read/27896936/health-related-quality-of-life-and-adherence-to-hydroxyurea-in-adolescents-and-young-adults-with-sickle-cell-disease
#12
Sherif M Badawy, Alexis A Thompson, Jin-Shei Lai, Frank J Penedo, Karen Rychlik, Robert I Liem
BACKGROUND: Complications related to sickle cell disease (SCD) result in significant declines in health-related quality of life (HRQOL). While hydroxyurea reduces SCD complications, adherence remains suboptimal. The study's objectives were to assess the feasibility of Internet-based electronic assessment of HRQOL in SCD clinic and to examine the relationship between HRQOL and hydroxyurea adherence in adolescents and young adults (AYAs) with SCD. PROCEDURE: A cross-sectional survey was administered on tablets to 34 AYAs (12-22 years old) in a SCD clinic from January through December 2015...
November 28, 2016: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/27895448/neonatal-acute-kidney-injury-following-valsartan-exposure-in-utero-report-of-two-cases
#13
E Tsepkentzi, K Sarafidis, A Sotiriadis, K Chatzistamatiou, V Drossou-Agakidou
BACKGROUND: Maternal sartan intake during pregnancy has been associated with several fetal/neonatal complications related to disturbed renal development. Description of cases: We present two cases of neonatal acute kidney injury (AKI) following valsartan administration during pregnancy and provide evidence for the use of novel AKI biomarkers in these neonates. The first case was a female neonate, delivered at 32+4 weeks of gestation after maternal valsartan intake from 24 to 32 gestational weeks...
January 2016: Hippokratia
https://www.readbyqxmd.com/read/27894281/successful-selective-reduction-of-a-heterotopic-cesarean-scar-pregnancy-in-the-second-trimester-a-case-report-and-review-of-the-literature
#14
Haiyan Yu, Hong Luo, Fumin Zhao, Xinghui Liu, Xiaodong Wang
BACKGROUND: Heterotopic cesarean scar pregnancy is a cesarean scar pregnancy combined with an intrauterine pregnancy that predisposes a woman to life-threatening complications such as uterine rupture and massive bleeding. Preservation of the intrauterine pregnancy in heterotopic cesarean scar pregnancy is a great challenge. CASE PRESENTATION: We report a case of a 33-year-old woman with heterotopic cesarean scar pregnancy after IVF-embryo transfer (ET). Expectant management was carried out with early diagnosis of heterotopic cesarean scar pregnancy (HCSP), and selective fetal reduction of cesarean scar pregnancy (CSP) was performed by ultrasound-guided intrathoracic injection of potassium chloride (KCl) at 16 + 4 weeks of gestation due to aggravation of CSP...
November 29, 2016: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/27891191/birth-weight-for-gestational-age-is-associated-with-dna-methylation-at-birth-and-in-childhood
#15
Golareh Agha, Hanine Hajj, Sheryl L Rifas-Shiman, Allan C Just, Marie-France Hivert, Heather H Burris, Xihong Lin, Augusto A Litonjua, Emily Oken, Dawn L DeMeo, Matthew W Gillman, Andrea A Baccarelli
BACKGROUND: Both higher and lower fetal growth are associated with cardio-metabolic health later in life, suggesting that prenatal developmental programming determines long-term cardiovascular disease risk. Epigenetic mechanisms, which orchestrate fetal growth and development, may offer insight on the early programming of health and disease. We investigated whether birth weight-for-gestational is associated with DNA methylation at birth and mid-childhood, measured via the Infinium 450K array...
2016: Clinical Epigenetics
https://www.readbyqxmd.com/read/27890689/developmental-toxicity-of-nicotine-a-transdisciplinary-synthesis-and-implications-for-emerging-tobacco-products
#16
REVIEW
Lucinda J England, Kjersti Aagaard, Michele Bloch, Kevin Conway, Kelly Cosgrove, Rachel Grana, Thomas J Gould, Dorothy Hatsukami, Frances Jensen, Denise Kandel, Bruce Lanphear, Frances Leslie, James R Pauly, Jenae Neiderhiser, Mark Rubinstein, Theodore A Slotkin, Eliot Spindel, Laura Stroud, Lauren Wakschlag
While the health risks associated with adult cigarette smoking have been well described, effects of nicotine exposure during periods of developmental vulnerability are often overlooked. Using MEDLINE and PubMed literature searches, books, reports and expert opinion, a transdisciplinary group of scientists reviewed human and animal research on the health effects of exposure to nicotine during pregnancy and adolescence. A synthesis of this research supports that nicotine contributes critically to adverse effects of gestational tobacco exposure, including reduced pulmonary function, auditory processing defects, impaired infant cardiorespiratory function, and may contribute to cognitive and behavioral deficits in later life...
November 24, 2016: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/27890000/reproductive-toxicity-of-t-cells-in-early-life-abnormal-immune-development-and-postnatal-diseases
#17
Han-Xiao Liu, Aifang Jiang, Ting Chen, Wen Qu, Hui-Yi Yan, Jie Ping
Immunity is a balanced status with adequate biological defenses to recognize and fight "non-self", as well as adequate tolerance to recognize "self". To maintain this immune homeostasis, a well-organized T cell immune network is required, which in part depends on the well-controlled development of alternative effector T cells, with different cytokine repertoires. Recent research has pointed that developing fetal T cells network is a remarkably sensitive toxicological target for adverse factors in early life...
November 24, 2016: Current Drug Targets
https://www.readbyqxmd.com/read/27884404/exposure-to-perfluoroalkyl-substances-and-thyroid-function-in-pregnant-women-and-children-a-systematic-review-of-epidemiologic-studies
#18
REVIEW
Virginia Ballesteros, Olga Costa, Carmen Iñiguez, Tony Fletcher, Ferran Ballester, Maria-Jose Lopez-Espinosa
INTRODUCTION: Thyroid hormones (THs) are especially important for brain maturation and development during the fetal period and childhood. Several epidemiological studies have assessed the possible association between exposure to perfluoroalkyl substances (PFAS) and thyroid outcomes during the early stages of life. We aimed to review this evidence. METHODS: We conducted a systematic review in compliance with the PRISMA Statement (search conducted in PubMed and Embase, as well as in the citations of the selected articles)...
November 21, 2016: Environment International
https://www.readbyqxmd.com/read/27882215/epigenetic-changes-in-peripheral-leucocytes-as-biomarkers-in-intrauterine-growth-retardation-rat
#19
Xue-Feng Xu, Shan-Shan Xu, Lin-Cheng Fu, Qiong-Yao Hu, Ying Lv, Li-Zhong Du
Epigenetics plays an important role in the fetal origins of adult disease. Intrauterine growth retardation (IUGR) can cause increased histone acetylation of the endothelin-1 (ET-1) gene from pulmonary vascular endothelial cells or the whole lung tissue and persist into later life, likely resulting in increased risk of pulmonary hypertension or asthma later in life. However, little is known regarding the correlation of epigenetic changes between specific tissue and peripheral leucocytes. In the present study, an IUGR rat model was established by maternal nutrient restriction...
November 2016: Biomedical Reports
https://www.readbyqxmd.com/read/27881286/renal-adaptive-changes-and-sodium-handling-in-the-fetal-to-newborn-transition
#20
REVIEW
Jeffrey L Segar
Appropriate fluid and electrolyte management is critical for optimal care of very low birth weight or sick infants. Delivery of such care requires an understanding of developmental changes in renal water and salt handling that occur with advancing gestational age as well as postnatal age. This review focuses on the principles of sodium homeostasis during fetal and postnatal life. The physiology of renal tubular transport mechanisms, as well as neurohumoral factors impacting renal tubular transport are highlighted...
November 20, 2016: Seminars in Fetal & Neonatal Medicine
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