High accuracy of HLA-B*27 genotyping by allele-specific real-time polymerase chain reaction in a heterogeneous population compared to flow cytometry and single nucleotide polymorphism detection assays.

HLA-B27 is a risk marker for ankylosing spondylitis and other associated seronegative spondyloarthropathies. We compared three methods of HLA-B*27 typing in a New South Wales (NSW) population: flow cytometry, rs4349859 single nucleotide polymorphism (SNP) detection assay, and allele-specific real-time polymerase chain reaction (RT-PCR) analysis of exons 2 and 3. Over a 5-month period, 543 samples underwent flow cytometric testing and RT-PCR high-resolution melt analysis of rs4349859 SNP and of exon 2 (5' fragment) and exon 3.

SDH-deficient renal cell carcinoma associated with biallelic mutation in succinate dehydrogenase A: comprehensive genetic profiling and its relation to therapy response.

Succinate dehydrogenase (SDH)-deficient renal cell carcinoma (RCC) is a rare RCC subtype that is caused by biallelic mutation of one of the four subunits of the SDH complex (, , , and ) and results in inactivation of the SDH enzyme. Here we describe a case of genetically characterized SDH-deficient RCC caused by biallelic (germline plus somatic) mutations. pathogenic variants were detected using comprehensive genomic profiling and SDH absence was subsequently confirmed by immunohistochemistry.

Effect of NT-proBNP testing on diagnostic certainty in patients admitted to the emergency department with possible heart failure.

Background: Difficulty in distinguishing congestive heart failure (HF) from other causes of dyspnoea in the emergency department (ED) may result in delay in appropriate treatment and referral. Although the diagnostic value of serum amino-terminal pro-B-type natriuretic peptide (NT-proBNP) is well documented, the impact on diagnostic certainty of providing these results to ED physicians is not well studied. We sought to determine the effect of providing NT-proBNP results on diagnostic certainty of physicians managing patients presenting to the ED with suspected HF.