Results 71 to 80 of about 156,253 (302)

The Impact of Prenatal Lectures in Breastfeeding and Neonatal Care in Romania - Our Experience.

, 2022
Anca Maria Balasoiu, Mihai-Daniel Dinu, Gabriel-Petre Gorecki, Romina‐Marina Sima, Liana Pleș   +4 more
openalex   +2 more sources

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

A multicenter study of fetal chromosomal abnormalities in Chinese women of advanced maternal age

Taiwanese Journal of Obstetrics & Gynecology, 2016
Objective: This study aimed to determine the rates of different fetal chromosomal abnormalities among women of advanced maternal age in China and to discuss the possible misdiagnosis risks of newer molecular techniques, for selection of appropriate ...
Yuning Zhu, Shiming Lu, Xuming Bian, He Wang, Baosheng Zhu, Hua Wang, Zhengfeng Xu, Liangpu Xu, Weihua Yan, Yan Zeng, Zhiyang Chen, Shaohua Tang, Guosong Shen, Zhengyou Miao   +13 more
doaj   +1 more source

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston, Carolina de Souza Araujo, Fernanda Araujo Romera, André Luis Ferreira, Érica Trovisco Martins, Carolina Galhós de Aguiar, José Eduardo Mourão Santos, Rodrigo Ragazzini, Daniela Testoni Costa‐Nobre, Ana Claudia Yoshikumi Prestes, Allan Chiaratti de Oliveira, Eduardo Perrone, Débora Gusmão Melo, Anne Caroline Barbosa Teixeira, Antonio Victor Campos Coelho, Caio Robledo D’Angioli Costa Quaio, Carolina Araujo Moreno, Eduardo Perrone, Jose Bandeira do Nascimento Junior, Jessica Grasiela Araujo Espolaor, Joana Rosa Marques Prota, Joao Bosco de Oliveira Filho, Jose Ricardo Magliocco Ceroni, Kelin Chen, Letícia Torres Ferreira, Lucas Santos de Santana, Luciana Souto Mofatto, Luiza do Amaral Virmond, Marina de Franca Basto Silva, Michele Patricia Migliavacca, Renata Moldenhauer Minillo, Renata Yoshiko Yamada, Roberta Sitnik, Tatiana Ferreira de Almeida, Thiago Yoshinaga Tonholo Silva, Vivian Pedigone Cintra   +35 more
wiley   +1 more source

Fetal Vibroacoustic Stimulation in Computerized Cardiotocographic Analysis: The Role of Short-Term Variability and Approximate Entropy

Journal of Pregnancy, 2012
The aim of this study was to evaluate the impact of vibroacoustic stimulation (VAS) on computerized cardiotocography short-term variability (STV) and approximate entropy (ApEn) in both low- and high-risk pregnancies. VAS was performed on 121 high- and 95
Maria Laura Annunziata, Mariamaddalena Scala, Natascia Giuliano, Salvatore Tagliaferri, Olga Carmela Maria Imperato, Francesca Giovanna Esposito, Marta Campanile, Andrea Di Lieto   +7 more
doaj   +1 more source

Homozygous Achondroplasia With Long‐Term Survival: Growth Patterns, Medical Interventions, and Practice Implications

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Homozygous achondroplasia is widely considered perinatal lethal by the medical community. In this case series, we report two children from a single family with longer‐term survival. One child lived for 17 months and the other was 60 months at the time of publication.
Hannah Singerline, Jason Laufman, Kimberly Wallis, Michelle Merrill   +3 more
wiley   +1 more source

Molecular epidemiology and hematological thresholds for αβ-thalassemia: a retrospective cohort study in the Huizhou region of southern China

Hematology
Objectives To investigate the prevalence, hematological characteristics and optimal cutoff values for mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) in carriers with combined α- and β-thalassemia (αβ-thalassemia) in the Huizhou ...
Dina Chen, Zhiyang Guan, Shaohui Huang, Zeyan Zhong, Hailin He, Guoxing Zhong, Zhiyong Wu, Jianhong Chen   +7 more
doaj   +1 more source

Economic Evaluation of Prenatal and Postpartum Care in Women With Gestational Diabetes and Hypertensive Disorders of Pregnancy: A Systematic Review

, 2022
Weixin Li, Chi‐Son Kim, Elizabeth A. Howell, Teresa Janević, Bian Liu, Lizheng Shi, Yan Li   +6 more
openalex   +2 more sources

Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart Failure

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Few studies describe the impact of rapid exome sequencing (ES) on pediatric cardiomyopathy in urgent clinical settings. Here, we retrospectively report the impact of rapid singleton ES in pediatric patients presented with acute heart failure and isolated cardiomyopathy or myocarditis, between 2021 and 2023 at a single tertiary care center.
Tameemi Abdalla Moady, Tova Hershkovitz, Clair Habib, Ori Attias, Amir Hadash, Galit Tal, Asaad Khoury, Josef Ben‐Ari, Danny Eytan, Tamar Paperna, Karin Weiss   +10 more
wiley   +1 more source

The Impact of the COVID-19 Pandemic in Prenatal Care Clinics; Late Diagnosis?

, 2021
Serenat Eriş Yalçın, Hasan Berkan Sayal   +1 more
openalex   +2 more sources