Results 41 to 50 of about 34,540 (224)

Platypnea-orthodeoxia due to osteoporosis and severe kyphosis: a rare cause for dyspnea and hypoxemia

Heart International, 2011
Platypnea orthodeoxia is a rare disorder characterised by dyspnea and arterial desaturation, exacerbated by the upright position and relieved when the subject is recumbent.
Gerian C. Groenefeld, Claudius Teupe
doaj   +1 more source

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, EarlyView.
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

Adult brain abscess associated with patent foramen ovale: a case report

Journal of Medical Case Reports, 2007
Brain abscess results from local or metastatic septic spread to the brain. The primary infectious site is often undetected, more commonly so when it is distant.
Stathopoulos Georgios T, Mandila Christina G, Koukoulitsios Georgios V, Katsarelis Nikodimos G, Pedonomos Michel, Karabinis Andreas   +5 more
doaj   +1 more source

What general practitioners need to know about patent foramen ovale [PDF]

, 2014
A patent foramen ovale (PFO) consists of a hole between the right and left atriums of the heart that did not close the way it should after birth. Twenty five percent of the population have a PFO, but this usually does not cause problems, because the ...
Saliba, Mario
core  

Local DRLs and automated risk estimation in paediatric interventional cardiology [PDF]

, 2019
Introduction : Cardiac catheterization procedures result in high radiation doses and often multiple procedures are necessary for congenital heart disease patients. However, diagnostic reference levels (DRL) remain scarce.
Bacher, Klaus, Buytaert, Dimitri, De Wolf, Daniël, PANZER, JOSEPH, Rubbens, Lukas, Vandekerckhove, Kristof   +5 more
core   +2 more sources

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

American Journal of Medical Genetics Part A, EarlyView.
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

Interaction between proatherosclerotic factors and right-to-left shunt on the risk of cryptogenic stroke: the Italian Project on Stroke in Young Adults. [PDF]

, 2012
Objective: To explore the interaction effects between cardiac interatrial right-to-left shunt (RLS) and proatherosclerotic factors on the risk of brain ischaemia. Design: Multicentre Italian caseecontrol study. Setting: University hospitals. Participants:
A, Adami, Bovi, P, Calabrò, Rs, Casoni, F, Cerrato, P, Costa, P, Dalla Volta, G, Del Sette, M, Del Zotto, E, Delodovici, Ml, Gandolfo, C, Giossi, A, Grassi, Mario, Iacoviello, L, Italian Project on Stroke in Young Adults, Investigators, Lodigiani, C, M, Magoni, Musolino, R, Paciaroni, M, Padovani, A, Patella, R, Pezzini, A, Rasura, M, Rota, Ll, Spalloni, A, Toriello, A, Volonghi, I, Zini, A   +27 more
core   +1 more source

Repurposing With Purpose: Treatment of Bachmann–Bupp Syndrome With Eflornithine and Implications for Other Polyaminopathies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Rare diseases impact approximately 1 in 10 people worldwide, and yet, less than 5% of all rare diseases currently have an approved treatment option available. This is due to many challenges unique to rare diseases, including small, diverse patient populations, the cost of drug development that is not proportionate to the number of patients who
Caleb P. Bupp, Elizabeth A. VanSickle, Julianne Michael, Chad R. Schultz, Kelly Nguyen, Melissa Hoefer, Surender Rajasekaran, André S. Bachmann   +7 more
wiley   +1 more source

Management of Cardiovascular Health Issues in Turner Syndrome: Expert Insights and Expanded Recommendations From the 2024 Guideline Development Team

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner syndrome (TS) is frequently complicated by congenital heart disease (CHD). While left‐sided lesions such as bicuspid aortic valve (BAV) and coarctation of the aorta are the most common structural heart lesions in TS, other anomalies, such as aortic arch malformations, hypoplastic left heart syndrome (HLHS), persistent left superior vena
Katya de Groote, Sheetal R. Patel, Kristian Havmand Mortensen, Isabel Witvrouwen, Anthonie Duijnhouwer, Nicole M. Brown, Jasmine Grewal, Kathryn C. Chatfield, Aaron T. Dorfman, Siddharth K. Prakash   +9 more
wiley   +1 more source

“Visiting scientist effect”? Exploring the impact of time‐lags in the digitization of 2D landmark data

The Anatomical Record, EarlyView.
Abstract Measurement error (ME) in geometric morphometrics has been the subject of countless articles, but none specific to the effect of time lags on landmark digitization error. Yet, especially for visiting scientists working on museum collections, it is not uncommon to collect data in multiple rounds, with interruptions of weeks or years. To explore
Andrea Cardini
wiley   +1 more source