Results 51 to 60 of about 29,196 (216)

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

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  

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

Primary stroke in a woman with sickle cell anemia responsive to hydroxyurea therapy. [PDF]

, 2014
The most common cause of stroke in children with sickle cell anemia is infarction due to ischemia. In adults, however, stroke is most commonly hemorrhagic in nature. Other causes of stroke in patients with sickle cell disease are very rare. In this short
Ballas, Samir K., Martinez-Outshoorn, Ubaldo E., Savage, Michael P   +2 more
core   +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

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

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

Community building through play: Development and design of a board game for review in an undergraduate anatomy course

Anatomical Sciences Education, EarlyView.
Abstract Engaging students and fostering interactions can be a challenge in large enrollment, foundational‐level, undergraduate anatomy classes. Despite the active learning environment of the anatomy laboratory, students often struggle to find study partners or even speak to fellow learners in a large classroom.
Kristin Stover, Vanessa Kruk, Jenna Kuczek   +2 more
wiley   +1 more source

Percutaneous Closure of Patent Foramen Ovale in a Patient with Mirror-Image Dextrocardia and Situs Inversus

Cardiovascular Innovations and Applications, 2020
A 26-year-old patient with mirror-image dextrocardia and situs inversus experienced a transient ischemic attack. We suspected that a patent foramen ovale was the reason.
Xiaofei Jiang, Heng Zhang, Mingyang Qian
doaj   +1 more source