Results 211 to 220 of about 7,430 (275)

Transient Hyperparathyroidism and Severe Intrauterine Osteopenia Linked to Novel Homozygous TRPV6 Deletion

Clinical Endocrinology, EarlyView.
ABSTRACT Context Placental calcium (Ca2+) transport is essential for foetal bone mineralisation and development, as well as for Ca2+ homoeostasis. Rare mutations in transient receptor potential vanilloid (TRPV) 6 of the infant cause insufficient maternal‐foetal Ca2+ transport through the placenta.
Teodora Grigore, Quinty Leusink, Femke Latta, Bram van der Eerden, Paul de Laat, Danielle van der Kaay, Joost Hoenderop   +6 more
wiley   +1 more source

The use of generic versus brand names in (clinical) pharmacology education across Europe: a cross-sectional survey. [PDF]

Eur J Clin Pharmacol
Slezáková V, Rychlíčková J, Cazaubon Y, Donker EM, van Leeuwen E, Likic R, Mazánková D, Piët JD, De Ponti F, Raasch W, van Rosse F, Sanz EJ, Schwaninger M, van Agtmael MA, Tichelaar J.   +14 more
europepmc   +1 more source

Metabolic Phenotype Predicts Biochemical Response to Inositol Supplementation in Polycystic Ovary Syndrome: A Systematic Review and Meta‐Analysis

Clinical Endocrinology, EarlyView.
ABSTRACT Objective To evaluate the effect of inositol supplementation on biochemical hyperandrogenism in women with polycystic ovary syndrome (PCOS) and to explore whether metabolic phenotype modifies the endocrine response. Design Systematic review and meta‐analysis of randomized controlled trials conducted in accordance with PRISMA guidelines ...
Daniele Tienforti, Gennaro Puocci, Claudia Venditti, Valentina Gizzi, Carlo Pisanò, Elisa Cocci, Elisabetta Perfetto, Francesco D'Alessandro, Luca Spagnolo, Marco Giorgio Baroni, Arcangelo Barbonetti   +10 more
wiley   +1 more source

A Call to Action: Engaging with the Intergovernmental Science-Policy Panel on Chemicals, Waste and Pollution. [PDF]

Environ Sci Technol
Diamond ML, Sigmund G, Ågerstrand M, Bertram MG, Ford AT, Lohmann R, Schäffer A, Starling MCVM, Soehl A, Suzuki N, Vlahos P, Venier M, Scheringer M.   +12 more
europepmc   +1 more source

Dual Metabolic Burden of Polyendocrine Metabolic Ovarian Syndrome (PMOS) and Gestational Diabetes in Pregnancy: Impact on Neonatal Anthropometry: Insights From the Born in Bradford Cohort

Clinical Endocrinology, EarlyView.
ABSTRACT Background Polyendocrine metabolic ovarian syndrome (PMOS) and gestational diabetes mellitus (GDM) independently influence foetal growth, but their combined impact remains poorly characterised. This study examined the individual and joint associations of PMOS and GDM with neonatal anthropometry in a large, multi‐ethnic population.
Harshal A. Deshmukh, Amal Rauf, Eunice Waife, Aatif Syed, Emmanuel Ssemmondo, Najeeb Shah, Thozhukat Sathyapalan   +6 more
wiley   +1 more source

A Cumulative and Strengths‐Based Approach to the Characteristics of Families With Complex and Multiple Problems: A Case File Study

Child &Family Social Work, EarlyView.
ABSTRACT Research on families experiencing complex and multiple problems (FECMP) has been dominated by a problem‐centred perspective and a focus on individual (i.e., single) risk factors. This case file study extends previous work by mapping (1) the nature and prevalence of individual problems and protective factors, (2) their accumulation and (3 ...
L. T. Zeinstra, A. M. N. Huyghen, A. T. Harder, W. J. Post, F. Wanders, J. Knot‐Dickscheit   +5 more
wiley   +1 more source

Evaluation and validation of a clinical decision support system for dose optimisation in hospitalized patients with (morbid) obesity - a retrospective, observational study. [PDF]

BMC Med Inform Decis Mak
Brand L, Mitrov-Winkelmolen L, Kuijper TM, Bosch TM, Krens LL.   +4 more
europepmc   +1 more source

Comprehensive Assessment of the KDM2B‐Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion Syndrome

Clinical Genetics, EarlyView.
We set out to characterize genotype–phenotype correlations in the recently delineated KDM2B‐associated neurodevelopmental disorder. We observe a highly penetrant CxxC domain‐related phenotype with distinct facial features supported by GestaltMatcher. In contrast, our findings point to variable expressivity and incomplete penetrance of loss‐of‐function ...
Amber S. E. van Oirsouw, Tzung‐Chien Hsieh, Martijn Koetsier, Abdulrazak Alali, Fatimah Albuainain, Elena Bacchelli, Tahsin Stefan Barakat, Yline Capri, Sandra Chantot‐Bastaraud, Valeria Capra, Deanna Alexis Carere, Emma Clement, Nour Elkhateeb, Madeleine Franchi, Jing‐Mei Li, Nicole Matthews, Vanda McNiven, Sarju G. Mehta, Masayuki Nakamura, Chanika Phornphutkul, Nicole Revencu, Marcello Scala, Natalie Shallow, Jennifer Stefanich, Marta Viggiano, Paola Visconti, Susan Walker, Federico Zara, Mariëlle Alders, Bobby P. C. Koeleman, Renske Oegema   +30 more
wiley   +1 more source

Designing effective explainable AI: a human-centered evaluation of explanation formats in financial decision-making. [PDF]

Front Artif Intell
Maathuis H, Stalenhoef M, van Otterloo S, Zwaal R, van Montfort K, Sent D.   +5 more
europepmc   +1 more source

Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients

Clinical Genetics, EarlyView.
Novel variants in PUS7 associated with intellectual disability and growth retardation: expanding the clinical spectrum in 13 patients. ABSTRACT Pseudouridylation is a frequent post‐transcriptional modification resulting in uridine isomerization in 5‐ribosyluracil, also called pseudouridine. This mechanism leads to RNA stability with an increase in base‐
Camille Bergès, Clément Sauvestre, Sophie Naudion, Catherine Vincent Delorme, Thomas Smol, Mélanie Rama, Stephanie Moortgat, Isabelle Maystadt, Rogier Kersseboom, Martina Wilke, Stefan Barakat, Yoann Vial, Laurence Perrin, Sandrine Passemard, Farooq Ahmad, Muhammad Umair, Tobias Haack, Mona Grimmel, Alma Kuechler, Anne Slavotinek, Patrick Devine, Ugur Hodoglugil, Faisal Zafar, Erum Afzal, Tracy Dudding‐Byth, Guillaume Jouret, Lucas Herissant, Stephanie Efthymiou, Henry Houlden, Marine Legendre, Vincent Michaud   +30 more
wiley   +1 more source