Results 111 to 120 of about 59,059 (254)

The “Long‐Sheath” Technique in Percutaneous Aortic Balloon Valvuloplasty [PDF]

open access: yes, 1988
A new 100 cm long 16.5 French valvuloplasty introducer was used in 12 consecutive patients (mean age 73 years, five males and seven females) undergoing aortic balloon valvuloplasty for severe aortic stenosis.
Beatt, K.J. (Kevin)   +5 more
core   +1 more source

Oral manifestations of nine individuals with Williams syndrome. A case series

open access: yesSpecial Care in Dentistry, Volume 44, Issue 2, Page 438-449, March/April 2024.
Abstract Aims Williams syndrome (WS) is a congenital developmental disorder characterized, mainly, by distinctive facial features, cardiovascular anomalies, growth delay and a typical neurobehavioral profile. The oral manifestations have not been sufficiently described and, therefore, the aim of the current study was to present the clinical ...
Konstantina Vavetsi   +6 more
wiley   +1 more source

Updated EUROCAT guidelines for classification of cases with congenital anomalies

open access: yesBirth Defects Research, Volume 116, Issue 2, February 2024.
Abstract Background Precise and correct classification of congenital anomalies is important in epidemiological studies, not only to classify according to etiology but also to group similar congenital anomalies together, to create homogeneous subgroups for surveillance and research.
Jorieke E. H. Bergman   +7 more
wiley   +1 more source

Phenotypic homozygous familial hypercholesterolemia successfully treated with proprotein convertase subtilisin/kexin type 9 inhibitors

open access: yesClinical Case Reports, Volume 12, Issue 2, February 2024.
Clinical impact of pharmacotherapy in phenotypic HoFH with large‐scale CNVs deletion in heterozygotes. Key Clinical Message Recent data reveal phenotypic HoFH patients may be responsive to PCSK9 inhibitors, challenging prior assumptions. Genetic testing advancements now more accurately forecast patient responses to these therapies, improving treatment ...
Ryosuke Tani   +5 more
wiley   +1 more source

PATHOPHYSIOLOGY, INVESTIGATIONS AND TREATMENT OF PATIENTS WITH PULMONIC STENOSIS: A REVIEW ARTICLE [PDF]

open access: yes, 2022
Background: Most patients with pulmonic stenosis have benign disease. While problems and new-onset symptoms in adults are usually non-life-threatening following the newborn period, they might occur in adults and necessitate attention.
ABD AL-RAZIK, ASHRAF HAMADA   +5 more
core   +1 more source

Utility of Pulmonary Angiography by 128‐Slice Computed Tomographic Scanner in Diagnosis of Tetralogy of Fallot Cases

open access: yesCase Reports in Radiology, Volume 2024, Issue 1, 2024.
Tetralogy of Fallot (TOF) is a significant cause of cyanotic congenital heart disease (CHD) encountered in childhood with few cases manifesting in adulthood. It has four classical features (ventricular septal defect, overriding of aorta, hypertrophy of right ventricular hypertrophy, and right ventricular outflow tract obstruction), but the clinical ...
Abhishek Dwivedi   +5 more
wiley   +1 more source

Sammenheng mellom genotype og fenotype ved Williams syndrom [PDF]

open access: yes, 2005
Williams syndrome (WS) is characterized by cardiac and vessel malformations as well as cognitive abnormalities. The syndrome is caused by a 1.5-1.6 Mb deletion in the long arm of chromosome 7.
Lillegraven, Siri
core  

Beyond Single Diagnosis: Exploring Multidiagnostic Realities in Pediatric Patients through Genome Sequencing

open access: yesHuman Mutation, Volume 2024, Issue 1, 2024.
Recent advancements in the next‐generation sequencing have illuminated the occurrence of multiple genetic diagnoses (MGD). While exome sequencing has provided insights, genome sequencing (GS), the most comprehensive diagnostic tool, remains underexplored for studying MGD prevalence.
Fen Guo   +6 more
wiley   +1 more source

SUPRAVALVULAR AORTIC STENOSIS ASSSOCIATED WITHAORTIC ANEURYSM

open access: yesJapanese Circulation Journal, 1971
A 32-year-old female patient had supravalvular aortic stenosis associated with aortic aneurysm. Supravalvular location of aortic stenosis within this rare combination of lesions has not, as far as we are aware, been reported. From the pathological findings, the nozzle action of stenosis is presumed to be an important causative factor in the growth of ...
SHUNNNOSUKE HANDA   +7 more
openaire   +4 more sources

Interventional cardiology : resolution of congenital heart diseases in small animals [PDF]

open access: yes, 2017
PòsterFebre
Cañete Pizarro, Ángel   +1 more
core  

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