Results 41 to 50 of about 2,713,146 (243)

Prenatal and postnatal genetic testing toward personalized care: The non-invasive perinatal testing

Molecular and Cellular Probes, 2023
This article investigates how non-invasive prenatal testing and the incorporation of genomic sequencing into newborn screening postnatally are transforming perinatal care.
Lilla Botos, Erzsébet Szatmári, Gyula Richárd Nagy   +2 more
doaj   +1 more source

Targeted Restoration of the Microbial Tryptophan Oxidative Pathway Ameliorates Autism‐Like Behavioral and Synaptic Deficits

Advanced Science, EarlyView.
ABSTRACT Autism Spectrum Disorder (ASD) is associated with gut microbiota dysbiosis, yet the contribution of specific microbial metabolic pathways remains unclear. Reanalysis of a public ASD cohort revealed reduced functional potential in microbial tryptophan oxidative metabolism.
Rui Guo, Caian He, Xiao Xiao, Jingmeng Li, Zilong Zhang, Ying He, Chuanchuan Wang, Jiale Zhao, Jun Gong, Jiarui Liang, Tian Yuan, Haiting Sun, Xuebo Liu, Chao Gao, Zhigang Liu   +14 more
wiley   +1 more source

The dilemma of X-linked agammaglobulinemia carriers

Journal of Allergy and Clinical Immunology: Global
Background: Many patients with X-linked agammaglobulinemia (XLA) nowadays have reached adulthood, as well as their sisters, possibly carriers of a deleterious Bruton tyrosine kinase variant. Studies on motherhood outcomes in families with XLA are lacking.
Federica Pulvirenti, MD, PhD, Cinzia Milito, MD, PhD, Francesco Cinetto, MD, PhD, Giulia Garzi, MD, Germano Sardella, MD, Giuseppe Spadaro, MD, Francesca Lippi, MD, Valentina Guarnieri, MD, Bianca Laura Cinicola, MD, Maria Carrabba, MD, PhD, Daniele Guadagnolo, MD, Giovanna Fabio, MD, Baldassarre Martire, MD, Caterina Cancrini, MD, PhD, Giulia Lanzoni, MD, Andrea Finocchi, MD, PhD, Gigliola Di Matteo, MD, PhD, Eva Pompilii, MD, Simona Ferrari, BD, PhD, Isabella Quinti, MD, PhD   +19 more
doaj   +1 more source

Late diagnosis of complete androgen insensitivity syndrome and transmission/carriers of the condition in a family with mutation c.2495G> T p.(Arg832Leu) in exon 7 of the androgen receptor gene: genetic, clinical and ethical aspects

Biomedical Papers, 2019
Background: The complete androgen insensitivity syndrome (CAIS) is a rare genetic disorder causing insensitivity to androgens in a person with female phenotype and 46,XY karyotype due to a mutation in the androgen receptor gene located on chromosome X ...
Renata Pomahacova, Jana Zamboryova, Petra Paterova, Anna Krepelova, Ivan Subrt, Radka Jaklova, Petra Vohradska, Eliska Hrdonkova, Josef Sykora   +8 more
doaj   +1 more source

Human Foetal Neuroblasts Exhibit BK Channel‐Dependent Membrane Voltage Oscillations upon Depolarization

Advanced Science, EarlyView.
Primary cultures of neuroblasts isolated from the nucleus basalis of Meynert of 12‐weeks‐old human foetuses were prepared. Whole‐cell patch‐clamp recordings were performed by injecting a depolarizing stimulus current (+500 pA; 500 ms), and the membrane voltage recorded; this stimulus current evoked periodic‐like oscillations in membrane voltage ...
Elisabetta Coppi, Federica Cherchi, Martina Venturini, Federico Tommasi, Sandro Gonzi, Chiara Capacci, Giulia Guarnieri, Pasquale Gallina, Annamaria Morelli, Anna Maria Pugliese   +9 more
wiley   +1 more source

A rare −α27.6 deletion compounded with the hemoglobin constant spring mutation identified in a Chinese couple

Hematology
Background Thalassemia is a common hemoglobin disorder caused by genetic defects in a single autosomal gene. Based on the deficient globin strand, it can be classified as α-thalassemia or β-thalassemia.
Wei Li, Zhao-Yi Guo, Zi-Han Xiu, Min Long, Yan Xiao, Li-Yi Liu, Yu-Chen Chen, Si-Fan Zeng, Jing Zhang, Min Zhang   +9 more
doaj   +1 more source

Prenatal care coverage and correlates of HIV testing in sub-Saharan Africa: Insight from demographic and health surveys of 16 countries.

PLoS ONE, 2020
BackgroundPrenatal screening of pregnant women for HIV is central to eliminating mother-to-child-transmission (MTCT) of HIV. While some countries in sub-Saharan Africa (SSA) have scaled up their prevention of MTCT programmes, ensuring a near-universal ...
Oluwafemi Emmanuel Awopegba, Amarachi Kalu, Bright Opoku Ahinkorah, Abdul-Aziz Seidu, Anthony Idowu Ajayi   +4 more
doaj   +1 more source

Gestational Hypoxia Disrupts Medial Ganglionic Eminence Progenitor Dynamics and Interneuron Development in Schizophrenia

Advanced Science, EarlyView.
FES‐derived MGE spheroids exhibit progenitor‐stage alterations in developmental trajectory and hypoxia‐responsive transcriptional programs, followed by functional disruption. Gestational hypoxia recapitulates impaired progenitor proliferation, shortened cell‐cycle progression, interneuron developmental abnormalities, and schizophrenia‐like behaviors in
Peiyan Ni, Qiancheng Zhang, Youhui Jiang, Huiying Yao, Chuqing Zhou, Xiaoyi Tian, Shiyingnan Gao, Jun Zhao, Xinyi Ren, Naxin Xu, Mengshan Fu, Liansheng Zhao, Xueyu Qi, Xueli Yu, Wanjun Guo, Sangmi Chung, Fan Guo, Tao Li   +17 more
wiley   +1 more source

Etiske utfordringer med nyere reproduksjonsteknologi

Etikk i Praksis: Nordic Journal of Applied Ethics, 2017
Moderne teknologi gir fantastiske muligheter for menneskelig formering. Mange som tidligere ikke kunne få barn, eller som fikk syke barn, kan nå hjelpes.
Bjørn Hofmann
doaj   +1 more source

Prenatal hepatitis C screening, diagnoses, and follow-up testing in British Columbia, 2008-2019.

PLoS ONE, 2020
ObjectiveCurrent guidelines in British Columbia recommend prenatal screening for hepatitis C antibodies (anti-HCV) if risk factors are present. We aimed to estimate frequency of prenatal anti-HCV testing, new diagnoses, repeated and follow-up testing ...
Margo E Pearce, Amanda Yu, Maria Alvarez, Sofia R Bartlett, Mawuena Binka, Dahn Jeong, Emilia Clementi, Prince Adu, James Wilton, Eric M Yoshida, Neora Pick, Jane A Buxton, Jason Wong, Agatha Jassem, Mel Krajden, Naveed Z Janjua   +15 more
doaj   +1 more source