Results 91 to 100 of about 216,825 (309)

Treatment of Advanced Emphysema with Emphysematous Lung Sealant (AeriSeal (R)) [PDF]

open access: yes, 2011
Background: This report summarizes initial tests of an emphysematous lung synthetic polymer sealant (ELS) designed to reduce lung volume in patients with advanced emphysema.
A. Ernst   +16 more
core   +1 more source

Pathogenic PF4/Polyanion ELISA‐Negative Antibodies in HIT

open access: yesAmerican Journal of Hematology, EarlyView.
ABSTRACT Background Platelet factor 4‐polyanion enzyme‐linked immunosorbent assays (ELISAs) are considered highly sensitive for diagnosing heparin‐induced thrombocytopenia (HIT), such that current practice guidelines recommend use of ELISA‐negative results to exclude HIT.
Adam J. Kanack   +25 more
wiley   +1 more source

Percutaneous pulmonary valve implantation

open access: yesGlobal Cardiology Science and Practice, 2015
[first paragraph of article] Percutaneous pulmonary valve implantation (PPVI) is one of the most exciting recent developments in the treatment of structural heart disease and has evolved as an attractive alternative to surgery in patients with dysfunctional right ventricle-pulmonary artery conduits.
Suradi, Hussam S., Hijazi, Ziyad M.
openaire   +2 more sources

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio   +16 more
wiley   +1 more source

The value of multimodality imaging for detection, characterisation and management of a wall adhering structure in the right atrium [PDF]

open access: yes, 2014
The case presents a wall adherent structure in the right atrium in a young patient with peripheral tcell lymphoma followed by successful prolonged lysis therapy resulting in the resolution of the thrombus is presented.
Akin, Ibrahim   +9 more
core   +1 more source

Early postoperative interventional ASD-closure for severe atrial right to left shunt in a neonate with common arterial trunk [PDF]

open access: yes, 2013
Although closure of an atrial septal defect (ASD II) with an occluding device in the first year of life is not a routine procedure, it is a feasible treatment, even in neonates.
Dilber, Daniel   +2 more
core   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken   +4 more
wiley   +1 more source

Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult‐Onset Acute Myeloid Leukemia

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome (NS) is a genetically heterogeneous disorder characterized by a broad spectrum of clinical features resulting from dysregulation of the RAS/MAPK pathway. Although complex genotypes are increasingly recognized in NS, cases harboring two distinct pathogenic variants in different NS genes remain extremely rare.
Francesco Prevedello   +10 more
wiley   +1 more source

“Inverted Pulmonary Valve,” a Rare Cause of Severe Pulmonary Stenosis

open access: yesJournal of the Indian Academy of Echocardiography & Cardiovascular Imaging
We describe three cases – two detected prenatally and one postnatally – in which the pulmonary valve exhibited abnormal chord-like attachments to the right ventricle. This produced paradoxical valve motion, characterized by closure in systole and opening
U. P. Singh   +2 more
doaj   +1 more source

Lymphatic Abnormalities in Noonan Syndrome Extend Beyond Clinically Apparent Disease

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Lymphatic disease represents a well‐described manifestation of Noonan syndrome (NS), yet the full phenotypic spectrum remains incompletely characterized, especially in asymptomatic individuals. We conducted a cross‐sectional study including 10 individuals with NS (four with peripheral lymphedema and six without) and 10 age‐ and sex‐matched ...
Inger Norlyk Sheyanth   +7 more
wiley   +1 more source

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