Rare Nephrology News

What % of patients living with TSC are affected by TSC-associated neuropsychiatric disorders (TAND)

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Which of the following factors is not associated with an increased likelihood of eventual progression to kidney failure?

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Almost one-fourth of documented cases of Kindler syndrome, a very rare type of epidermolysis bullosa, were found in native tribes of which country?

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Which of the following is NOT a common symptom of TSC?

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Which of the following diseases is believed to be mediated by the complement pathway?

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Which of the following symptoms is not typical of an adrenal crisis?

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If left untreated, mortality with Congenital thrombotic thrombocytopenic purpura is….

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Which famous rivalry is thought by some medical historians to have been exacerbated by Von Hippel-Landau disease?

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Where were the first cases of Alagille syndrome described?

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Which of these films about rare disease patients focuses on adrenoleukodystrophy?

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Which female singing star was diagnosed with stiff person syndrome?

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Which technology entrepreneur is funding the development of Neuralink, the start-up that is at the forefront of neurotechnology?

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Which of these films about rare disease patients focuses on Morquio syndrome?

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Without treatment, which of the following is known to occur to patients with Familial Mediterranean Fever?

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Alstrom syndrome is more common in which of the following groups?

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Which of the following are thought to be triggers of on Addisonian disease crisis?

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What is the important action of the bacterial Cas9 enzyme that has application in clinical medicine?

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The human exome represents about 1% of the genome. Approximately what percent of known disease-related variants are contained in the exome?

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The human genome contains about 25,000 genes. Approximately how many different proteins are produced by the human genome?

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Which of the following symptoms is not characteristic of Rett syndrome?

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Becker muscular dystrophy (BMD) was first identified in what country

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This well-known professional football player (4 Super Bowl rings), broadcaster, and NFL executive was diagnosed with AL amyloidosis in 2018, and received a heart transplant later that year.

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Which of these symptoms is most likely to be seen in babies with SMA1?

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mRNA was discovered in the early 1960s, but it took advances in nanotechnology to determine how to optimize delivery into cells. Which famous physicist pioneered the concept of nanotechnology?

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Which of these rare diseases has several antisense therapies approved for treatment?

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What’s the most commonly seen serious side effect with CAR-T cell therapy?

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Which type of viral vector is the most commonly used gene therapy delivery system in current clinical trials?

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The most common comorbidity of Barth syndrome is_______?

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What percent of patients with genetic COPD due to alpha-1 are estimated to be undiagnosed?

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Which of these symptoms is not considered a hallmark of autoimmune autonomic ganglionopathy (AAG)?

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What is the most common presenting symptom of IgA nephropathy?

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The most common impact of COPA syndrome is__________?

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Which organ is most commonly affected by AL amyloidosis?

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Which of these hormones is lacking in central diabetes insipidus?

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Which part of the body is typically most impacted by Buerger disease?

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Which famous female tennis player was diagnosed with Sjögren’s syndrome at age 31?

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Typically, what color are cystine stones when removed?

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Which of the following organs is not generally affected by the tuberous sclerosis complex?

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One form of scleroderma is called CREST. What condition does the R in CREST represent?

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The highest reported incidence of Kawasaki disease is found in….?

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X-linked hypophosphatemia (XLH) is also known as….?

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In hypopituitarism, which hormone is usually the first hormone to stop being produced by the pituitary gland?

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Which of these symptoms is most likely to be seen in a patient with FSGS?

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