Younus Qamar
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View article: Septal myectomy for obstructive hypertrophic cardiomyopathy: Comparison of outcomes of the transapical beating-heart and transaortic on-pump approaches
Septal myectomy for obstructive hypertrophic cardiomyopathy: Comparison of outcomes of the transapical beating-heart and transaortic on-pump approaches Open
View article: Novel recurrent mutations and genetic diversity in Sudanese children with adrenal insufficiency
Novel recurrent mutations and genetic diversity in Sudanese children with adrenal insufficiency Open
Objective Studies of primary adrenal insufficiency (PAI) in African children are rare, but in Sudan, congenital adrenal hyperplasia (CAH) and triple A syndrome are the most common genetic causes. Differential diagnosis is challenging, espe…
View article: 8482 Genetic Aetiology Of Primary Adrenal Insufficiency In Sudan
8482 Genetic Aetiology Of Primary Adrenal Insufficiency In Sudan Open
Disclosure: C.J. Smith: None. M.A. Abdullah: None. S.S. Hassan: None. L.S. Fauzi: None. Y. Qamar: None. C.L. Hall: None. S. Maitra: None. A.V. Maharaj: None. L.M. Marroquin Ramirez: None. J.E. Read: None. L. Chan: None. L. Metherell: None.…
View article: LA-to-LV Valved Conduit for Relief of Mitral Stenosis in Patients With HCM and Severe MAC
LA-to-LV Valved Conduit for Relief of Mitral Stenosis in Patients With HCM and Severe MAC Open
A left atrium-to-left ventricle valved conduit is an alternative to conventional mitral valve (MV) replacement in patients with MV stenosis associated with a heavily calcified annulus. We describe a series of 6 patients with hypertrophic c…
View article: An unusual presentation of subacute Haemophilus parainfluenzae endocarditis in a low-risk woman treated by minimally invasive mitral valve repair: a case report
An unusual presentation of subacute Haemophilus parainfluenzae endocarditis in a low-risk woman treated by minimally invasive mitral valve repair: a case report Open
Background HACEK endocarditis is usually insidious and can often be difficult to diagnose due to the slow-growing nature of the organisms. This report presents our experience in treating a patient with Haemophilus parainfluenzae endocardit…
View article: Ectopic Mediastinal Thyroid Mass with a Normally Located and Functioning Thyroid Gland
Ectopic Mediastinal Thyroid Mass with a Normally Located and Functioning Thyroid Gland Open
View article: RF33 | PSAT69 A Combined Candidate Gene/Whole Exome Sequencing Approach Permits a Rapid Genetic Diagnosis for >81% Individuals with Primary Adrenal Insufficiency.
RF33 | PSAT69 A Combined Candidate Gene/Whole Exome Sequencing Approach Permits a Rapid Genetic Diagnosis for >81% Individuals with Primary Adrenal Insufficiency. Open
Introduction Mutations in MC2R causing familial glucocorticoid deficiency (FGD), a rare form of primary, isolated adrenal insufficiency, were first published in 1993, discovered by candidate gene sequencing (CGS). Through advances in genet…
View article: A Carotid Body Tumour Mimicking Richter’s Transformation of Chronic Lymphocytic Leukaemia
A Carotid Body Tumour Mimicking Richter’s Transformation of Chronic Lymphocytic Leukaemia Open
View article: A Giant Solitary Fibrous Tumour of the Pleura
A Giant Solitary Fibrous Tumour of the Pleura Open
View article: An Incidental Finding of a Large Pericardial Cyst
An Incidental Finding of a Large Pericardial Cyst Open
View article: Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years’ Experience in the UK
Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years’ Experience in the UK Open
Context Although primary adrenal insufficiency (PAI) in children and young people is often due to congenital adrenal hyperplasia (CAH) or autoimmunity, other genetic causes occur. The relative prevalence of these conditions is poorly under…
View article: In Vitro Splicing Assay Proves the Pathogenicity of Intronic Variants in MRAP
In Vitro Splicing Assay Proves the Pathogenicity of Intronic Variants in MRAP Open
Introduction: Familial glucocorticoid deficiency (FGD) is characterised by isolated glucocorticoid deficiency in a patient who retains normal mineralocorticoid production. FGD causing mutations in the MC2R accessory protein, MRAP, are ofte…