Results 61 to 70 of about 234,929 (313)

The Relationship of the First/Third Trimester Hematocrit level with the Birth Weight and Preeclampsia

نشریه پرستاری ایران, 2008
Background and Aim: Hematocrit is defined as the relationship between the volume of cells and the volume of blood separated by a centrifuge. Evaluation of hematocrit is one of the routine tests during pregnancy.
Massomeh Goudarzi, Ahmadreza Yazdin-Nik, Nasrollah Bashardoost   +2 more
doaj  

“No visible signs of pregnancy, no sickness, no antenatal care”: Initiation of antenatal care in a rural district in Northern Ghana

BMC Public Health, 2019
Background Attending antenatal care (ANC) early contribute to better birth outcomes. Studies have shown that many pregnant women in Sub-Saharan Africa do not initiate ANC early (i.e. in the first trimester).
Agnes Millicent Kotoh, Michael Boah
doaj   +1 more source

Impact of new definitions of pre-eclampsia on incidence and performance of first-trimester screening [PDF]

, 2019
Objective: The traditional definition of pre-eclampsia (PE) is based on the development of hypertension and proteinuria. This has been revised recently to include cases without proteinuria but with evidence of renal, hepatic or hematological dysfunction.
N. Khan, A. Wright, D. Wright, H. De Castro, W. Andrade, K. H. Nicolaides   +5 more
core   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

Evaluating Maternal Serum SHH Levels in the First Trimester as a Potential Biomarker for Predicting Preeclampsia. [PDF]

Int J Womens Health
Caifeng Deng,1,* Si Zhang,2,* Chanyu Li,1 Zhiling Yang,1 Qin Guo,3 Yanmian Cheng4 1Department of Gynecology and Obstetrics, The First Affiliated Hospital of Chengdu Medical College, Chengdu, Sichuan, People’s Republic of China ...
Deng C, Zhang S, Li C, Yang Z, Guo Q, Cheng Y.   +5 more
europepmc   +2 more sources

First-trimester Screening: An Overview [PDF]

Journal of Histochemistry & Cytochemistry, 2005
An improvement in prenatal screening for chromosomal defects has been achieved by combining sonography and biochemical markers. Analyzing markers taken from maternal blood such as pregnancy-associated plasma protein A and free β-human chorionic gonadotropin in combination with the ultrasound marker nuchal translucency provides detection rates of 90 ...
Bernd, Eiben, Ralf, Glaubitz
openaire   +2 more sources

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

First-Trimester Morphological Evaluation of Fetuses and Medical Law Implications

Diagnostics
Background/Objectives: Over the years, the potential of the first-trimester (FT) ultrasound in the detection of fetal structural defects has increased.
Răzvan Grigoraș Căpitănescu, Marius Cristian Marinaș, Larisa Pătru, Dragoș George Popa, Elena Cristina Andrei, Aura Iuliana Popa, Gabriel Florin Răzvan Mogoș, Nicolae Dragoș Mărgăritescu, Ciprian Laurențiu Pătru   +8 more
doaj   +1 more source