Results 71 to 80 of about 98,951 (323)

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

Patent foramen ovale and thromboembolic complications [PDF]

, 2010
The foramen ovale, an atrial septal defect which is essential in the fetal circulation, remains patent through adulthood in approximately 25% of the general population and so it represents the most common persistent abnormality of fetal origin.
Barbaro, G, Fattouch, K, Fazio, G, Ferrara, F, Ferro, G, Novo, G, Novo, S   +6 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

Redundancy of foramen ovale flap may mimic fetal aortic coarctation

Ultrasound in Obstetrics and Gynecology, 2020
To assess the relationship between presence of a redundant foramen ovale flap (RFOF), in the absence of a clearly restrictive foramen ovale, and ventricular disproportion, in three groups of fetuses: (1) those with a final diagnosis of aortic coarctation
F. Vena, G. Donarini, C. Scala, Giulia Tuo, D. Paladini   +4 more
semanticscholar   +1 more source

Momentarily stuck in the foramen ovale [PDF]

European Journal of Echocardiography, 2007
An 80-year-old woman was admitted for a diagnosis of severe pulmonary embolism. A large serpentine thrombus stuck in a patent foramen ovale (PFO) completely resolved without the patient experiencing any manifestation. The right renal artery was the final destination. Thromboaspiration was unsuccessful. Three months later, the patient was diagnosed with
Maxime, Rousselle, Pierre-Vladimir, Ennezat, Jean-Marc, Aubert, Julie, Darchis, Xavier, Gonin, Daniel, Lenica, Jean-Jacques, Bauchart, Jean-Luc, Auffray, Virginia, Gaxotte, Thierry H, LeJemtel, Patrick, Goldstein, Philippe, Asseman   +11 more
openaire   +2 more sources

Long‐Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley, Merlene Peter, Heba H. Akbari, Jelena Ivanisevic, Alexander Ing, Kelly Regan‐Fendt, Patrick McMullen, Kai Lee Yap   +7 more
wiley   +1 more source

Body position and oxygenation: An intriguing relationship

Revista Portuguesa de Cardiologia, 2014
Dyspnea and hypoxemia are among the most common symptoms and signs that need to be assessed in clinical practice.This case illustrates how simple steps in history taking and physical examination can be crucial for diagnosis.We present a patient with ...
Patrícia Rodrigues, Marta Monteiro, Paulo Palma, Luís Sousa-Pereira, Sofia Cabral, Filomena Oliveira, Vasco Dias, Severo Torres   +7 more
doaj   +1 more source

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

An Anatomical Study on the Foramen Ovale and the Foramen Spinosum

JOURNAL of CLINICAL AND DIAGNOSTIC RESEARCH, 2013
An anatomical study was undertaken to note the shape of the foramen ovale(FO), foramen spinosum (FS) & presence or absence of canalis innominatus. FO is present in the posterior part of the greater wing of sphenoid. FS is located posterolareral to foramen ovale. Aims & Objective: We attempted this study to find out the variations in shape, bony growth &
Karan Bhagwan Khairnar, Prashant Amanrao Bhusar   +1 more
openaire   +3 more sources

Anatomic Diagram as a Novel Assessment Strategy for Subclinical Local Residual Disease in Sinonasal Squamous Cell Carcinoma and Intestinal‐type Adenocarcinoma

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Objective In the last two decades, transnasal endoscopic surgery (TES) has become pivotal in the management of sinonasal tumors. This approach involves a multiblock tumor resection, adding complexity to the interpretation of surgical margins after pathological examination.
Piergiorgio Gaudioso, Leonardo Calvanese, Stefano Taboni, Giacomo Contro, Diego Cazzador, Tommaso Saccardo, Gloria Schiavo, Vittorio Rampinelli, Alberto Schreiber, Gabriele Testa, Cesare Piazza, Enzo Emanuelli, Davide Mattavelli, Piero Nicolai, Marco Ferrari   +14 more
wiley   +1 more source