Results 101 to 110 of about 280,708 (291)

Newborn screening for thyroid-stimulating hormone as an indicator for assessment of iodine status in the Republic of Macedonia [PDF]

Journal of Medical Biochemistry, 2016
Background: Iodine deficiency is associated with goiter and impaired brain function leading to cretinism. An increased frequency of thyroid-stimulating hormone (TSH) measurements above 5 mIU/L on newborn screening points toward an impaired iodine status ...
Anastasovska Violeta, Kocova Mirjana
doaj  

Citrullinemia type I is associated with a novel splicing variant, c.773 + 4A > C, in ASS1: a case report and literature review

BMC Medical Genetics, 2019
Background Citrullinemia type I (CTLN1) is a rare autosomal recessive disorder of the urea cycle caused by a deficiency in the argininosuccinate synthetase (ASS1) enzyme due to mutations in the ASS1 gene.
Yiming Lin, Hongzhi Gao, Bin Lu, Shuang Zhou, Tianwen Zheng, Weihua Lin, Lin Zhu, Mengyi Jiang, Qingliu Fu   +8 more
doaj   +1 more source

Chlamydia trachomatis infection and the risk of perinatal mortality in Hungary [PDF]

, 2001
Introduction: Chlamydial infections of the genital tract are thought to often lead to preterm birth, which is the most important perinatal problem in Hungary.
Ancel Y, Bashir SA, Muh DH, Newhall WJ, Orfila J, Richardson S, Rogan WJ, Sweet RL, Trachtenberg AI   +8 more
core   +1 more source

Ovarian Matrisome Dynamics and αvβ3‐Mediated Regulation in Early Follicular Development

Advanced Science, EarlyView.
The matrisome undergoes dynamic remodeling during early follicular development. Integrin αvβ3 mediates matrisome signals, regulating primordial follicle activation/atresia and secondary follicle growth via Hippo/mTOR pathways, with conserved roles in human ovaries, offering therapeutic targets for ovarian disorders.
Tong Wu, Yanzhi Feng, Qingqing Zhu, Ting Jiang, Yueyue Gao, Kebing Nie, Xianan Tang, Ying Chen, Dianxing Hu, Xudan Yang, Shixuan Wang, Meng Wu, Jinjin Zhang   +12 more
wiley   +1 more source

Acknowledgement to Reviewers of International Journal of Neonatal Screening in 2019

International Journal of Neonatal Screening, 2020
International Journal of Neonatal Screening Editorial Office
doaj   +1 more source

Unraveling the metabolomic architecture of autism in a large Danish population-based cohort

BMC Medicine
Background The prevalence of autism in Denmark has been increasing, reaching 1.65% among 10-year-old children, and similar trends are seen elsewhere.
Filip Ottosson, Francesco Russo, Anna Abrahamsson, Nadia MacSween, Julie Courraud, Kristin Skogstrand, Olle Melander, Ulrika Ericson, Marju Orho-Melander, Arieh S. Cohen, Jakob Grove, Preben Bo Mortensen, David M. Hougaard, Madeleine Ernst   +13 more
doaj   +1 more source

GH Therapy in Non–Growth Hormone-Deficient Children

Children
Before 1985, growth hormone (GH) was extracted from human pituitaries, and its therapeutic use was limited to children with severe GH deficiency (GHD).
Chiara Guzzetti, Anastasia Ibba, Valeria Incandela, Sandro Loche   +3 more
doaj   +1 more source

Neonatal hearing screening

Bangladesh Journal of Otorhinolaryngology, 1970
DOI: 10.3329/bjo.v16i1.5782Bangladesh J Otorhinolaryngol 2010; 16(1): 54 ...
Nasima Akhtar, Pran Gopal Datta, Md. Alauddin, Nazma Kamal   +3 more
openaire   +2 more sources

Astrocyte Enrichment of 3D Cortical Constructs Enhances Brain Repair

Advanced Science, EarlyView.
This study highlights the role of astrocytes in supporting neural progenitor cell survival and differentiation after traumatic brain injury. Astrocytes enhanced neuronal differentiation, improved cell survival in co‐cultures, and promoted integration of microfluidics‐based implants with host tissue following implantation. Additionally, increased axonal
Elisa M. Cruz, Luana C. Soares, Gretchen Greene, Fernando Messore, Mohammed Abuelem, Mingyu Li, Caroline Andersen, Mirriam Domocos, Elisa Vitiello, Rabeah Abdul Razak, Marlene Lawston, Gabriel Moser, Talia Vasaturo‐Kolodner, Mona Barkat, Roslyn M. Bill, Edward Mann, Linna Zhou, Mootaz M. Salman, Hagan Bayley, Zoltán Molnár, Francis G. Szele   +20 more
wiley   +1 more source

ASS1 gene mutation in a neonate with citrullinemia type Ⅰ [PDF]

Jichu yixue yu linchuang, 2020
Objective To detect blood acylcarnitine and genes in a newborn with suspected citrullinemia, and to detect gene mutations in their parents, so as to clarify their diagnosis and follow-up investigations.
LYU Ya-nan, SONG Dong-po, WANG Wei-qing, CHEN Yan-ping
doaj