Results 81 to 90 of about 29,743 (195)

Clinical Presentation of the Longest Reported Living Individual With Bent Bone Dysplasia—FGFR2‐Related

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 728-732, March 2026.
ABSTRACT The FGFR2 gene, encoding the FGFR2 protein, plays a crucial role in embryonic cell development, particularly in bone tissue. Bent Bone Dysplasia (BBD), FGFR2‐related (MIM# 614592), is a rare severe skeletal dysplasia characterized by craniofacial differences, reduced bone mineral density, and bowed long bones.
Cheyenne Bates, Pardeep Gill, Matthew Choi, Frances Mahon, Blake Yarascavitch, Audrey Lim, Resham Ejaz   +6 more
wiley   +1 more source

Worsening Hypoxemia in a Patient With Interstitial Pulmonary Fibrosis: Role of Patent Foramen Ovale Mediated Right‐to‐Left Shunt

Sonography, Volume 13, Issue 1, March 2026.
ABSTRACT PFO mediated right‐to‐left shunt was found to be responsible for worsening exertional hypoxemia in an elderly patient with interstitial pulmonary fibrosis. Transcatheter PFO closure resolved the hypoxemia. This case highlights the need to evaluate intracardiac shunts in hypoxic patients, even with coexisting pulmonary pathology.
Wan Cheol Kim, Wael Sumaya, Malek Kass, Osama Elkhateeb, Ashish H. Shah   +4 more
wiley   +1 more source

Neuroloogia. Mida teha, kui noorel krüptogeense insuldiga patsiendil on kodade vaheseinas väike mulk? [PDF]

, 2017
Eesti Arst 2017; 96(9):554 ...
Kõrv, Janika
core   +2 more sources

Cryptogenic stroke and patent foramen ovale (abridged and translated version)

Neurological Research and Practice, 2019
Interventional patent foramen ovale (PFO) closure should be performed in patients aged 16 to 60 years (after extensive neurological and cardiological diagnostic work-up) with a history of cryptogenic ischaemic stroke and patent foramen ovale, with ...
Hans-Christoph Diener, Armin Grau, Stephan Baldus   +2 more
doaj   +1 more source

Het platypneu-orthodeoxiesyndroom bij de geriatrische patiënt : presentatie, diagnostiek en therapie

, 2020
De ziektegeschiedenis van een 85-jarige vrouw met als klinische presentatie een triade van een longembolie, een ischemisch cerebrovasculair accident (CVA) en het platypneu-orthodeoxiesyndroom (POS) wordt beschreven.
Bultynck, Céline, De Smet, Sanne, Demuynck, Mathias, Desimpelaere, Patrick, Petrovic, Mirko   +4 more
core   +1 more source

Migraine and vascular disease biomarkers: A population-based case-control study. [PDF]

, 2018
Background The underpinnings of the migraine-stroke association remain uncertain, but endothelial activation is a potential mechanism. We evaluated the association of migraine and vascular disease biomarkers in a community-based population.
Ferrari, Michel D., Herial, Nabeel, Khubchandani, Jagdish, Koppen, Hille, Kruit, Mark C., Launer, Lenore J., Palm-Meinders, Inge H., Terwindt, Gisela M., Tietjen, Gretchen E., van Buchem, Mark A.   +9 more
core   +2 more sources

The HRAS Variant c.175G>A (p.Ala59Thr) Causes a Predominantly Ectodermal Phenotype Lacking Classic Costello Syndrome Features

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 407-418, February 2026.
ABSTRACT Costello syndrome (CS) is a rare dominant HRAS RASopathy characterized by curly hair, cardiac abnormalities, craniofacial anomalies, and developmental delay. HRAS codon 58, 59, and 60 variants are associated with milder phenotypes. We describe a three‐generation family with a previously unreported heterozygous HRAS variant c.175G>A (p.Ala59Thr)
Nikole Rautiainen, Eveliina Brandt, Kaisa Kettunen, Outi Elomaa, Sirpa Kivirikko, Leila Jeskanen, Katriina Lappalainen, Nelli Sjöblom, Juha Kere, Katariina Hannula‐Jouppi, Liisa Harjama   +10 more
wiley   +1 more source

Finite Element Simulation Analysis of a Nickel-Titanium Alloy Patent Foramen Ovale Occluder

Zhongguo yiliao qixie zazhi
In this paper, a preliminary stress/strain analysis of the design structure of a nickel-titanium alloy patent foramen ovale occluder is conducted with the finite element simulation analysis method. In the analysis, solid structure modeling is carried out
Juan SHEN, Wei LIU
doaj   +1 more source

Risk of decompression illness among 230 divers in relation to the presence and size of patent foramen ovale [PDF]

, 2017
Background The risk of developing decompression illness (DCI) in divers with a patent foramen ovale (PFO) has not been directly determined so far; neither has it been assessed in relation to the PFO's size.
Billinger, Michael, Schwerzmann, Markus, Seiler, Christian, Torti, Sandra Rea, Vogel, Rolf, Windecker, Stephan, Zbinden, Rainer   +6 more
core  

The Correlations of Clinical Outcomes and Vascular Morphology With Infarct Patterns in Middle Cerebral Arterial Occlusion

Brain and Behavior, Volume 16, Issue 2, February 2026.
For stroke caused by large vessel occlusion in M1 segment of middle cerebral artery (MCA), a tortuous and long M1 segment of contralateral MCA (cMCA) correlates with the onset of borderzone infarct. In those with a less tortuous cMCA‐M1 segment, a thin and short M1 segment correlates with large infarct.
ZhiRong Cai, Yuan Chen, ShaoQing Pei, Yue He, YaNan Zhu, Rui Zhang, JingWei Lin, Yi Yang, Ying Zhu   +8 more
wiley   +1 more source