Results 91 to 100 of about 50,678 (282)

The application of artificial intelligence in blind ultrasound sweep diagnostics for prenatal medicine: A systematic literature review

Acta Obstetricia et Gynecologica Scandinavica, EarlyView.
Artificial intelligence enables the interpretation of blind ultrasound sweeps for prenatal diagnostics. Applications include accurate gestational age estimation, amniotic fluid segmentation, fetal presentation classification, and placental localization.
Johanna Schott, Melanie Wilmes, Adeline Walter, Ruben Plöger, Ingo Gottschalk, Tanja Groten, Florian Recker   +6 more
wiley   +1 more source

Congenital aniridia: European COST action ANIRIDIA‐NET guidelines for diagnosis, management and care

Acta Ophthalmologica, EarlyView.
Abstract Congenital aniridia is a rare ocular disorder affecting the majority of eye structures and can be associated with systemic manifestations. The main visible phenotypic characteristic is the partial or complete absence of the iris; however, foveal hypoplasia is a more frequent and reliable clinical sign. Other ocular comorbidities are associated
Davide Romano, Vito Romano, Alejandra Daruich, Giulio Ferrari, Matthieu Robert, Francesco Semeraro, Neil Lagali, Dominique Bremond‐Gignac, the ANIRIDIA‐NET Clinical Guidelines Working Group, Miriam Barbany, Claus Cursiefen, Stefano Ferrari, Francisco Figueiredo, Christina Grupcheva, Jesper Hjortdal, Elke Kreps, Erlend Landsend, Laura Mauring, Hilde Pedersen, Nora Szentmáry, Bogumil Wowra, the Aniridia‐Europa and Geniris Working Group, Sophie Valleix, Juan Álvarez de Toledo, James Lauderdale, Tor Paaske Utheim, Paolo Rama   +26 more
wiley   +1 more source

Consultations for Poland Syndrome: The Essentials for a Thoracic Surgeon

Medicina
Poland syndrome (PS) is a rare congenital musculoskeletal entity occurring in approximately 1 in 30,000 newborns that manifests with variable symbrachydactyly, ipsilateral costochondral deformities, an absence of pectoral muscles, and breast ...
Małgorzata Edyta Wojtyś, Dawid Kordykiewicz, Janusz Wójcik, Periklis Tomos, Konstantinos Kostopanagiotou   +4 more
doaj   +1 more source

Intestinal Atresia in Finland: Maternal Risk Factors, Prevalence, Associated Anomalies and Survival

Acta Paediatrica, EarlyView.
ABSTRACT Aim We aimed to investigate prevalence, associated anomalies and survival of congenital intestinal atresia and to examine maternal risk factors for jejunoileal atresia (JIA). Methods All children born with, or pregnancies terminated because of, JIA or colonic atresia (CA) in Finland during 1987–2019 were identified from the Finnish Register of
Esko Tahkola, Arimatias Raitio, Ilkka Helenius, Johanna Syvänen, Teemu Kemppainen, Eliisa Löyttyniemi, Maarit K. Leinonen, Mika Gissler, Topi Luoto, Mikko P. Pakarinen   +9 more
wiley   +1 more source

The Emergence of Self‐Awareness in Preterm Infants: Insights From the Rooting Reflex

Acta Paediatrica, EarlyView.
ABSTRACT Aim Touch is the first sense to develop during fetal life. Sensory exploration in preterm infants may underlie early sensory self‐awareness. This study aimed to demonstrate the emergence of sensory self‐awareness in preterm infants by analysing behavioural responses of the rooting reflex.
Alessia Touraton, Fleur Lejeune, Frédérique Berne Audéoud, Thierry Debillon, Marie Chevallier, Edouard Gentaz, Julia Doutau   +6 more
wiley   +1 more source

Diverse Pathways and the Role of Timing: Youth Experiences of Leaving Care in China

Child &Family Social Work, EarlyView.
ABSTRACT In China, young people in state‐funded childcare institutions (Fuliyuan) are required to exit at age 18 unless still in education, compressing the move to adulthood. This study applies a life‐course lens to examine how the timing and sequencing of key life events shape care leavers' trajectories.
Shian Yin, Siobhan Laird, Lisa Warwick
wiley   +1 more source

Expansion of the Phenotypic and Genotypic Spectrum for PRKAR1B‐Related Marbach–Schaaf Neurodevelopmental Syndrome: A Case Series

Clinical Genetics, EarlyView.
Comprehensive clinical description of 12 subjects with pathogenic PRKAR1B variants, including two heterozygous deletions supporting haploinsufficiency as a possible mechanism of disease, providing valuable insight into the pathophysiology of MASNS and setting a framework upon which to design future mechanistic studies of PKA signaling in brain ...
Sebastian Burkart, Tarik Guzeloglu, Ana R. Soares, Irene Valenzuela, Eduardo F. Tizzano, David Gómez‐Andres, Laurent Pasquier, Marine Legendre, Camille Berges, Julien Thevenon, Marjolaine Gauthier, Caleb Heid, Elly Ranum, Joseph Shen, Michelle Frees, Michael W. Schmidtke, Caro Pilar, Christian P. Schaaf   +17 more
wiley   +1 more source

Portrait of a Spectrum: Clinical and Genetic Characterization of a Large Cohort of Chromatinopathies—30 Years' Experience From a Third Level Center

Clinical Genetics, EarlyView.
Chromatinopathies (CP) are a growing group of rare genetic disorders characterized by cognitive deficits and growth abnormalities. This is the largest collection of CP to date, contributing to a deeper understanding of the landscape and diagnosis of these rare diseases, strongly improved by the use of large‐scale sequencing technologies.
Giulia Bruna Marchetti, Erica Rosina, Camilla Meossi, Michela Mura, Lidia Pezzani, Angelo Selicorni, Maria Francesca Bedeschi, Romano Tenconi, Carlo Agostoni, Palma Finelli, Sara De Matteis, Elisabetta Di Fede, Valentina Massa, Laura Pezzoli, Cristina Gervasini, Maria Iascone, Donatella Milani   +16 more
wiley   +1 more source

Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly–Macrocephaly Syndrome

Clinical Genetics, EarlyView.
We identified a recurrent heterozygous MAX c.179G>A:p.Arg60Gln variant in two unrelated females affected with the emerging phenotypes of MAX‐associated polydactyly‐macrocephaly syndrome. We propose that genitourinary abnormalities, including Mayer–Rokitanski–Kuster–Hauser syndrome in one individual, are an expansion of the known phenotypes associated ...
Iftekhar A. Showpnil, Neta Feinstein‐Goren, Lior Greenbaum, Ortal Barel, Daniel C. Koboldt, Samantha A. Brugmann, Kathryn Nicole Weaver, Anne Slavotinek, Ben Pode‐Shakked, Rolf W. Stottmann   +9 more
wiley   +1 more source

Barriers to the Accessibility of Childcare Services for Children With Disabilities Aged 0 to 5 Years: Perspectives of Parents and Childcare Staff

Children &Society, EarlyView.
ABSTRACT According to Article 23 of the United Nations Convention on the Rights of the Child, children with disabilities are entitled to education, including access to high‐quality childcare services. Despite international and national commitments to inclusion, persistent obstacles continue to limit equitable access to childcare services for children ...
François Routhier, Josiane Lettre, Fidélia Longchamps, Gbetogo Maxime Kiki, Chantal Desmarais, Marie Grandisson, Ernesto Morales, Marie‐Eve Lamontagne, Francine Julien‐Gauthier, W. Ben Mortenson, Debra Field, Jill G. Zwicker, Wenonah Campbell, Michelle Phoenix, Marie‐Claude Belleau, Francine Tellier, Stéfanie Lamothe, Jason Gordon, Keely Edgington, Gabrielle Gagnon, Michelle Goulet, Anne‐Marie Guillot, Bobbi Taylor, Michelle Wan   +23 more
wiley   +1 more source