Björnstad presented his diagnosis and observations at a medical conference in Copenhagen.Björnstad syndrome is diagnosed by observation of twisted hair, known as pili torti, which can be observed as early as birth. To confirm presence of pili torti, the hair shafts of an individual are examined under an electron microscope. Any infants with confirmed pili torti should undergo a series of auditory tests to evaluate potential sensorineural deafness. Finally, a diagnosis of Björnstad syndrome can be confirmed by genetic testing for mutations in the BCS1L gene. Epidemiology
Björnstad syndrome is extremely rare, with less than 50 documented cases worldwide. In 2013, five individuals from a consanguineous Pakistani family were diagnosed with Björnstad syndrome. They each experienced a varying degree of progressive hearing loss as well as hair loss on the scalp. The males with Björnstad syndrome also experienced shorter stature.Given its autosomal recessive inheritance pattern, Björnstad syndrome should theoretically affect males and females in equal numbers. However, more females than males have been diagnosed with Björnstad syndrome in medical literature. See also
GRACILE syndrome
Mitochondrial complex III deficiency

References


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Ertugliflozin, sold under the brand name Steglatro, is a medication for the treatment of type 2 diabetes.The most common side effects include fungal infections of the vagina and other infections of the female reproductive system.Ertugliflozin is a sodium/glucose cotransporter 2 (SGLT2) inhibitor and is in the class of drugs known as gliflozins.In the United States, it was approved by the Food and Drug Administration for use as a monotherapy and as a fixed dose combination with either sitagliptin or with metformin. In the European Union, it was approved in March 2018, for use as a monotherapy or combination therapy. In September 2020, The New England Journal of Medicine reported that ertugliflozin was shown to be essentially non-inferior to placebo.A combination with metformin is marketed as Segluromet and a combination with sitagliptin is marketed as Steglujan. Medical uses
Steglatro is indicated for the treatment of adults with insufficiently controlled type 2 diabetes as an adjunct to diet and exercise as monotherapy when metformin is considered inappropriate due to intolerance or contraindications or in addition to other medicinal products for the treatment of diabetes. Contraindications
Under the US approval, ertugliflozin is contraindicated for patients with severe kidney failure, end-stage renal disease, and dialysis. The European Union approval does not list any contraindications apart from hypersensitivity to the drug, which is standard for all drug approvals.