Results 81 to 90 of about 8,947 (215)

Combined Long‐Read Genome and Transcriptome Sequencing Establishes Novel Variants in MEGF8 as the Cause for Carpenter Syndrome Type 2

American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1719-1724, July 2026.
ABSTRACT Carpenter syndrome type 2 (CRPT2) is a rare autosomal recessive disease mainly characterized by craniosynostosis and polysyndactyly. CRPT2 is the rarer subtype of Carpenter syndrome (CRPTS) and is caused by biallelic variants in the multiple epidermal growth factor‐like domains 8 gene (MEGF8).
Kiana Rashidi, Bhavi P. Modi, Phillip A. Richmond, Massimo Mangino, Loryn Byres, Cassie McDonald, Joshua Dalmann, Simran Samra, Kate L. Del Bel, Anna Lehman, Jessica L. Zambonin, Stuart E. Turvey   +11 more
wiley   +1 more source

Hybrid treatment of penetrating aortic ulcer. [PDF]

, 2015
[Portuguese] A úlcera aórtica penetrante é uma entidade rara e de prognóstico desfavorável dentro da síndrome aórtica aguda. Mais raros ainda, na literatura, são os casos como o aqui relatado, localizado no arco aórtico, que começa com dor torácica e ...
Araújo Martins-Romêo, Daniela de, Prieto Falcón, María Del Carmen, Caparrós Escudero, Carlos, Herrero Lara, Juan Antonio, Lepe Vázquez, Rosa María, Bianchi Batista, Vinicius   +5 more
core   +1 more source

Essential embryology for the Canadian pathologists’ assistant

Anatomical Sciences Education, Volume 19, Issue 7, Page 1134-1156, July 2026.
Abstract Pathologists' assistants (PAs) are pivotal in healthcare, conducting autopsies and examining tissues under a pathologist's guidance. Embryology knowledge is crucial for PAs to accurately assess anomalies and identify pathologies. Yet, it is often overlooked in academic PA training programs.
Samantha H. Nacci, William Tsui, Fang‐I Lu, Avrum I. Gotlieb, Danielle C. Bentley   +4 more
wiley   +1 more source

Atypical Case of Takayasu Aortitis Presenting as Embolic Stroke With Concomitant Massive Thoracic Artery Aneurysm

Clinical Case Reports, Volume 14, Issue 7, July 2026.
Multifocal aortic aneurysmal dilatation as evidenced by CT Angiography chest‐abdomen‐pelvis of the ascending aorta (A), aortic arch (B), and suprarenal abdominal aorta (C), measuring 6.0 × 6.0, 4.5 × 4.5, and 4.1 × 3.7 cm, respectively. ABSTRACT We describe the case of a 44‐year‐old female with a history significant for only hypertension who presented ...
J. Curran Henson, Jordan H. Myers, Macy Cummins, Keyur Vyas, Michael Lowry   +4 more
wiley   +1 more source

Prenatal diagnosis in fetal right aortic arch using chromosomal microarray analysis and whole exome sequencing: a Chinese single-center retrospective study

Molecular Cytogenetics
Background Right aortic arch (RAA) is a common congenital aortic arch abnormality. Fetuses with RAA frequently have good outcomes after birth. However, chromosomal abnormalities and genetic syndromes suggest poor prognosis for these patients.
Lu Zhang, Ruibin Huang, Hang Zhou, Xiaomei Lin, Fei Guo, Xiangyi Jing, Yongling Zhang, Fucheng Li, Fatao Li, Qiuxia Yu, Dan Wang, Guilan Chen, Fang Fu, Min Pan, Jin Han, Dongzhi Li, Ru Li   +16 more
doaj   +1 more source

Implementation and Performance of First‐Trimester Referral Ultrasound Scan Following the Introduction of National Guidelines

Journal of Clinical Ultrasound, Volume 54, Issue 6, Page 1335-1348, July/August 2026.
The expert assessment of fetal anatomy before 14 weeks is feasible when adopting a standardized protocol and allows an early diagnosis in most cases at risk for fetal anomaly following first trimester screening ultrasound. ABSTRACT Background To report the implementation across Fetal Medicine units and the agreement between first and second trimester ...
Grazia Volpe, Laura Sarno, Elena Mantovani, Daniele Di Mascio, Valentina D'Ambrosio, Tiziana Fanelli, Ilaria Fantasia, Gian Piero Minnella, Paola Quaresima, Enrico Corno, Andrea Dall'Asta, on behalf of the SIEOGiovani Committee of the Italian Society of Ultrasound in Obstetrics and Gynecology (SIEOG)   +11 more
wiley   +1 more source

What's Your Diagnosis? Large Mediastinal Mass in a Dog

Veterinary Clinical Pathology, EarlyView.
Rosane O. Cruz, Talles M. Almeida, Iris D. S. Menezes, Ludmila R. Moroz, Suane N. Boaventura, Tiago Peixoto, Stella F. Valle, Nicole Hlavac   +7 more
wiley   +1 more source

Prenatal detection and outcome of major heart defects in a country with universal screening

Ultrasound in Obstetrics &Gynecology, Volume 68, Issue 1, Page 44-50, July 2026.
ABSTRACT Objective To evaluate the Danish prenatal screening program for major fetal congenital heart defects (mCHD), focusing on incidence, detection rates (DRs), pregnancy outcomes and postnatal mortality. Methods This was a 5‐year nationwide cohort study conducted from January 2018 to December 2022 in Denmark.
C. Vedel, J. Steensberg, O. B. Petersen, H. Andersen, M. Barbosa, M. Christiansen, V. Gjørup, A. N. Jensen, K. Munk, K. Nyborg, A. W. Olesen, F. Ravn, L. Sperling, H. G. H. Thyregod, N. Vejlstrup, C. K. Ekelund   +15 more
wiley   +1 more source

Psychedelics, entactogens and psychoplastogens for depression and related disorders

British Journal of Pharmacology, Volume 183, Issue 14, Page 3897-3919, July 2026.
Currently, the most actively investigated rapidly acting antidepressants, anxiolytics and/or anti PTSD agents, include psychedelics e.g. psilocybin, LSD, N,N‐dimethyltryptamine, ayahuasca; non‐hallucinogenic entactogens, e.g. MDMA; psychoplastogens which rapidly promote neuroplasticity, e.g.
Daniel Hoyer
wiley   +1 more source

Cooling down for going up: Could selective ‘brain chilling’ mitigate high‐altitude illness?

Experimental Physiology, EarlyView.
Adnan Haq, Damian M. Bailey
wiley   +1 more source