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In this sham-controlled, randomized trial involving patients with dysplastic Barrett's esophagus, patients who were treated with radiofrequency ablation were more likely to have complete eradication of dysplasia and intestinal metaplasia and less likely to progress to more severe dysplasia or cancer. Adverse events included chest pain and esophageal stricture.
This article describes mutations or deletions in TET2 in patients with a spectrum of myelodysplastic syndromes and myeloproliferative disorders. The defect was independent of the JAK2 V617F mutation in such patients. It occurs in primitive hematopoietic stem cells and is an early event in the course of the disease. Since TET2 has features of a tumor-suppressor gene, it may have an initiating role in some cases of myelodysplastic syndromes and myeloproliferative disorders.
In this longitudinal study of cognitive function and aging, which included 456 participants who agreed to post-mortem brain examination and died between 69 and 103 years of age, the relationship between the pathological features of Alzheimer's disease and clinical dementia at the time of death was attenuated in the oldest old persons. For example, the odds ratio for the association between dementia and neocortical neuritic plaques was 8.6 at 75 years of age but only 2.5 at 95 years of age.
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Dehydroepiandrosterone (DHEA) sulfotransferase (SULT2A1) transforms the androgen precursor DHEA to its inactive sulfate ester DHEAS, which prevents DHEA conversion to active androgens. SULT2A1 requires 3′-phosphoadenosine-5′-phosphosulfate (PAPS) for catalytic activity. This article reports compound heterozygous mutations in PAPSS2, the gene encoding human PAPS synthase 2, in a girl with premature pubarche. Thus, PAPSS2 deficiency appears to be a monogenic adrenocortical cause of androgen excess.
A 52-year-old receptionist presents with an ulcer on her ankle of 1 year's duration. Narcotic analgesics once or twice a day and leg elevation reduce the pain. She has not had diabetes and does not smoke. Physical examination reveals an ulcer above the medial malleolus, with a clean bed of granulation and surrounded by hyperpigmented skin. Pedal pulses are easily palpable. How should she be evaluated and treated?
Clinicians must be aware of the growing list of causes and predisposing factors that may lead to the life-threatening disorder of acute adrenal insufficiency. This review provides a guide to the recognition and treatment of adrenal insufficiency, whether it is primary or secondary to disease, hereditary disorders, medication use, or critical illness.
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A 30-year-old man was admitted to this hospital because of progressive neurologic deficits, which had begun 1 year earlier with headaches and word-finding difficulties, followed by seizures and cognitive and motor deficits. Imaging studies revealed progressive lesions involving predominantly the white matter, basal ganglia, and brain stem. He had a history of painful genital and oral ulcers, associated with arthralgias, for which immunosuppressive medications had been given. A diagnostic procedure was performed.
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