Results 91 to 100 of about 146,711 (318)

False non-paternity in a family for prenatal diagnosis of β-thalassaemia

, 1993
Initial screening for the common β-thalassaemia mutations with allele-specific oligonucleotide probe in an at-risk family suggested non-paternity. Subsequent DNA fingerprinting of the members proved otherwise.
Todd, D, Chan, TPT, Chan, TK, Chan, V, Lau, K   +4 more
core   +1 more source

The Dynamics of Neurofilament Light Chain in Spinal Muscular Atrophy

Annals of Neurology, EarlyView.
Objective Newborn screening (NBS) for spinal muscular atrophy (SMA) facilitates early diagnosis and treatment for affected individuals. However, fluid biomarkers that provide early insights into disease activity and outcomes in a neonatal cohort and those unable to access (due to reimbursement criteria) or deferring immediate treatment are lacking ...
Arlene D'Silva, Karen Herbert, Lakshmi Balaji, Jia Mei He, Tejaswi Kandula, Hugo A. Sampaio, Hooi‐Ling Teoh, Esther Tantsis, Jihee Sohn, Nancy Briggs, Nickson Ning, Matthew C. Kiernan, Didu S. Kariyawasam, Michelle A. Farrar   +13 more
wiley   +1 more source

Evaluation of IHH, PTCH1, and SMO protein immunohistochemistry in the human mandibular condyle at fetal stages from 30 to 80 mm greatest length

The Anatomical Record, EarlyView.
Abstract This study evaluated the morphogenesis of the temporomandibular joint (TMJ) in human fetuses during the third month of gestation through the analysis of immunohistochemistry for the proteins Indian Hedgehog (IHH), Patched‐1 (PTCH1), and Smoothened (SMO).
Filipe Santos da Silva, Carolina de Oliveira Gigek, Andreia Fabiana Do Vale Franco, Amanda Alves Ribeiro Massoni, José Ramon Mérida‐Velasco, Luís Otávio Carvalho de Moraes   +5 more
wiley   +1 more source

A detailed redescription of a skeletally immature ‘Redondasaurus’ suggests ontogenetic transformations in the taxon mirror phytosaurian morphological evolution

The Anatomical Record, EarlyView.
Abstract The study of morphological evolution is fundamentally tied to ontogeny, yet studies of these heterochronic processes in the fossil record are rare. Fossils belonging to an ontogenetic series are difficult to assign to an ontogenetic stage due to inconsistent proxies for skeletal ages, challenging to taxonomically assign due to morphological ...
Erika R. Goldsmith, Michelle R. Stocker
wiley   +1 more source

Impact of prenatal diagnosis of complex congenital heart disease on neonatal and infant morbidity and mortality

, 2018
Objectives The objective of this study was to analyze the benefits associated with prenatal diagnosis of complex congenital heart disease (CHD) on preoperative morbidity, 30‐day and 1‐year mortality in this population.
Chakraborty, Abhishek, Swaminathan, Sethuraman, Gorla, Sudheer R   +2 more
core   +1 more source

Use of antiemetics in early pregnancy 2012–2022: A cross‐sectional study

British Journal of Clinical Pharmacology, EarlyView.
Aim Nausea and vomiting in pregnancy impact quality of life, yet many pregnant women feel dismissed by healthcare professionals, despite the safety of first‐line antiemetic treatments for both mother and fetus. Therefore, this study aims to describe the prevalence of patient‐reported antiemetic use in early pregnancy in Copenhagen, Denmark, the changes
Katrine Bak Wraae, Nanna Roed Ballegaard, Mie Lærkeholm Hede, Line Buchgreitz, Ane Lilleøre Rom, Hanne Kristine Hegaard, Nina Olsén Nathan   +6 more
wiley   +1 more source

Systematic review and scoring‐based selection of pharmacokinetic models for precision dosing of vancomycin in neonates and children

British Journal of Clinical Pharmacology, EarlyView.
This systematic review identified 112 population pharmacokinetic models of vancomycin in neonates and children. To support rational model selection for model‐informed precision, we developed and applied expert‐driven, transparent criteria that integrate both methodological rigour and clinical relevance.
Zoë Vander Elst, Pieter‐Jan Spiessens, Dorian Vanneste, Nada Dia, Matthias Gijsen, Isabel Spriet, Karel Allegaert, Erwin Dreesen, Anne Smits   +8 more
wiley   +1 more source

Identification of major congenital malformations based on healthcare databases in France: A proof‐of‐concept study using the epi‐meres nationwide mother–child register

British Journal of Clinical Pharmacology, EarlyView.
Abstract Aim Besides registries, healthcare databases can provide useful information for assessing the frequency of major congenital malformations (MCMs) and investigating their risk factors, particularly medication exposures. This study aimed to assess the validity of MCMs identification based on French national, comprehensive healthcare databases ...
Tom Duchemin, Lise Marty, Jérôme Drouin, Sara Miranda, Jérémie Botton, Valérie Olié, Alain Weill, Rosemary Dray‐Spira   +7 more
wiley   +1 more source

Outcome of chromosomally abnormal pregnancies in Lebanon: Obstetricians' roles during and after prenatal diagnosis

, 2007
Objectives: To better understand obstetrician experiences in Lebanon when disclosing abnormal amniocentesis results. Methods: Structured interviews with 38 obstetricians identified as caregivers from the American University of Beirut Medical Center ...
Zahed L.F., Nassar A.H., Ormond K.E., Khalil T., Eldahdah L.T.   +4 more
core   +1 more source

Humans are not unique: difficult birth is common in placental mammals

Biological Reviews, EarlyView.
ABSTRACT Human childbirth is widely presumed to be uniquely difficult and dangerous compared to birth in other mammals. Tight fetopelvic proportions can result in obstructed labour and contribute to high rates of maternal and neonatal mortality. Ideas summarised under the ‘obstetrical dilemma’ have contributed to this assumption by explaining difficult
Nicole D. S. Grunstra
wiley   +1 more source