Inherited cardiovascular diseases have historically been identified most frequently through the patient’s family history. Now, next-generation sequencing technology has taken genetic testing to a new level, allowing assessment of multiple genes and mutations with one test.
Serum thyroglobulin concentrations are used to monitor patients with differentiated thyroid cancer, but may be misleading in the presence of antithyroglobulin autoantibodies and heterophile antibodies. Mayo Medical Laboratories has developed an assay to address this issue by testing first for the presence of thyroglobulin antibodies by immunoassay and, in antibody-positive specimens.
The porphyrias are a group of inborn errors of metabolism caused by enzymatic defects in the heme biosynthetic pathway. Depending upon the specific type of porphyria suspected, certain tests are more informative than other assays.
In 2012, southeastern Minnesota experienced its largest local pertussis outbreak in recent history. In this article, we report the epidemiology and clinical and microbiological characteristics of the pertussis outbreak and examine possible contributing factors.
Lupus anticoagulants are associated with thrombosis, recurrent fetal loss, neurological problems, and cutaneous manifestations. Accurate diagnosis is important considering the potential use of long-term anticoagulant therapy because of the high risk of recurrent thrombosis.
Waldenström macroglobulinemia is a rare disease. Patients present with a spectrum of clinical findings, and many patients do not require treatment initially. This article describes a risk-adapted approach with recommendations on timing and choice of therapy.
Many disorders of the central nervous system previously considered neurodegenerative and untreatable are now recognized as having an autoimmune cause. Detection of neural autoantibodies in serum or spinal fluid is consistent with a diagnosis of an autoimmune encephalopathy, epilepsy, or dementia.