Results 71 to 80 of about 172,436 (294)

The role of the pediatrican in the effort to prevent congenital malformations [PDF]

, 2011
N
Brent, Robert L, Dr.
core   +1 more source

TP53BP2 Promotes Placental Autophagy and Preeclampsia via G9a and DNMT1 Cooperatively Modulating E2F1

Advanced Science, EarlyView.
G9a, and DNA Methyltransferase1 (DNMT1) cooperatively modulates E2F1 on the promoter of tumor suppressor p53‐binding protein 2 (TP53BP2) increased autophagy in preeclampsia. TP53BP2 promotes autophagy in trophoblasts through DNA methylation and H3K9me2‐mediated transcriptional regulation.
Nan Jiang, Shaoju Jin, Shaoying Wen, Wen Zeng, Chen Wang, Jingyu Wang, Qingyun Song, Guizhong Li, Pengzhi Yin, Yuhui Liao, Yuee Chai, Huiping Zhang, Shengchao Ma   +12 more
wiley   +1 more source

Ethnical Variations in the Incidence of Congenital Heart Defects in Gorgan, Northern Iran: A Single-Center Study

Journal of Tehran University Heart Center, 2015
Background: Congenital heart disease (CHD) is the most common congenital anomaly in newborns. This study was performed to determine the live birth incidence of CHD by ethnicity and sex in Gorgan, Northern Iran.
Bagher Nikyar, Maliheh Sedehi, Mostafa Qorbani, Arash Nikyar, MohammadJafar Golalipour   +4 more
doaj  

Cellular Identity Crisis: RD3 Loss Fuels Plasticity and Immune Silence in Progressive Neuroblastoma

Advanced Science, EarlyView.
Researchers discovered that therapy‐induced loss of RD3 protein in neuroblastoma triggers a dangerous shift: cancer cells become more stem‐like, invasive, and resistant to treatment while evading immune detection. RD3 loss suppresses antigen presentation and boosts immune checkpoints, creating an immune‐silent environment.
Poorvi Subramanian, Sreenidhi Mohanvelu, Sheeja Aravindan, Afsana Parveen Jahir Hussain, Sivasubramani Narayanan, Sabir Salim, Loganayaki Periyasamy, Natarajan Aravindan   +7 more
wiley   +1 more source

Pattern and risk factors of cryptorchidism in Gorgan, northern Iran

مجله دانشگاه علوم پزشکی گرگان, 2014
Background and Objective: Cryptorchidism or undescending testis is a developmental defect and occurred in 2-4% of male newborns. This study was done to determine the pattern and risk factors of cryptorchidism in Gorgan, northern Iran.
Mirfazeli A, Kavianyn N, Vakili MA, Tajari HA, Golalipour MJ   +4 more
doaj  

Clinical Insights From a Case of Sifrim‐Hitz‐Weiss Syndrome With a CHD4 Variant: Expanding the Phenotypic Spectrum and Its Response to Growth Hormone Therapy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To enhance clinicians' understanding of Sifrim‐Hitz‐Weiss syndrome (SIHIWES), this study investigated the clinical phenotypes, genetic characteristics, and response to growth hormone therapy in a patient. A case of a patient with global developmental delay and distinctive facial features is presented.
Jianmei Zhang, Shuangzhong Chen, Guanping Dong, Suhong Yang, Ping Wang, Qiong Zhou, Pingping Wang   +6 more
wiley   +1 more source

The Incidence and Factors Associated with Major Congenital Malformations Recorded in Newborns Born in Chaharmahal and Bakhtiari Province, Iran, in 2016

تحقیقات نظام سلامت, 2021
Background: Congenital malformations are one of the causes of infants’ disability and death. This study was performed to determine the incidence of major congenital anomalies and their relationship with some related factors at birth.
Nadia Mohammadi-Dashtaki, Mehrdad Hosseinpour, Mohammad Reza Maracy   +2 more
doaj  

Prevalence of congenital malformations at the “les Orangers” maternity and reproductive health Hospital of Rabat: descriptive study of 470 anomalies

BMC Pediatrics, 2020
Background Congenital malformations are described in about 3% of live births and 20% of stillbirths in the industrialized countries. The prevalence of congenital anomalies in developing countries, including Morocco, is not well known at the national ...
K. Forci, M. H. Alami, E. Bouaiti, M. Slaoui, A. Mdaghri Alaoui, A. Thimou Izgua   +5 more
doaj   +1 more source

Parents' perceived knowledge and beliefs on congenital malformations and their causes in the Amhara region, Ethiopia. A qualitative study.

PLoS ONE, 2021
IntroductionKnowledge and beliefs of people on congenital malformations and their causes differ from society to society. As a result, there is a paucity of understanding community perceived knowledge and beliefs towards congenital malformations and their
Molla Taye
doaj   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source