Charité Clinical Journal Club by Fred Luft - 7.01.2015

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• published: 13 Jan 2015
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The N Engl J Med image of the week shows a tongue with multiple pustular-appearing excrescences. You are offered bullous impetigo, exanthematous pustulosis, exfoliative dermatitis, Stevens-Johnson syndrome, and Sweet’s syndrome. In patients with acute ischemic stroke caused by a proximal intracranial arterial occlusion, intraarterial treatment is highly effective for emergency revascularization. However, proof of a beneficial effect on functional outcome is lacking. Investigators randomly assigned patients to either intraarterial treatment plus usual care or usual care alone. Eligible patients had a proximal arterial occlusion in the anterior cerebral circulation that could be treated intraarterially within 6 hours after symptom onset. The primary outcome was the modified Rankin scale score at 90 days; functional outcome, with scores ranging from 0 - no symptoms - to 6 - death - . The patients treated intraarterially appeared to benefit. Approximately 4% of black Americans carry a valine-to-isoleucine substitution - V122I - in the transthyretin protein, which has been associated with late-onset restrictive amyloid cardiomyopathy and increased risks of death and heart failure. Epidemiologists determined genotype status for the transthyretin gene - TTR - in 3856 black participants in the Atherosclerosis Risk in Communities study and assessed clinical profiles, mortality, and the risk of incident heart failure in V122I TTR variant carriers - 124 participants - 3% - - versus noncarriers - 3732 participants - . There is a risk but it seems relatively trivial. The BRAF inhibitors vemurafenib and dabrafenib have shown efficacy as monotherapies in patients with previously untreated metastatic melanoma with BRAF V600E or V600K mutations. Combining dabrafenib and the MEK inhibitor trametinib, as compared with dabrafenib alone, enhanced antitumor activity in this population of patients. Still another study shows that anti-MEK + BRAF is better than anti-BRAF alone. We then investigate Ebola virus disease as it occurred in Guinea. Clinically Ebola virus disease was no different there than elsewhere. Mutations in the gene encoding leptin - LEP - typically lead to an absence of circulating leptin and to extreme obesity. Pediatricians from Ulm describe a 2-year-old boy with early-onset extreme obesity due to a novel homozygous transversion - c.298G→T - in LEP, leading to a change from aspartic acid to tyrosine at amino acid position 100 - p.D100Y - and high immunoreactive levels of leptin. This leptin mutant would not work evidently. In mammary atypical hyperplasia, there is a proliferation of dysplastic, monotonous epithelial-cell populations that include clonal subpopulations. In models of breast carcinogenesis, atypical hyperplasia occupies a transitional zone between benign and malignant disease, because it contains some of, but not all, the requisite features of a cancer and is thus considered to be premalignant. We discuss mammary atypical hyperplasia in detail. The N Engl J Med review is on disorders of plasma sodium concentration. In the case of the week we confront the POEM syndrome, basically an M-protein disorder with severe polyneuropathy. In the Lancet, epidemiologists calculate the risk of air travel in spreading Ebola virus disease. In the next Lancet study, thoracic radiotherapy for small cell lung cancer makes a renewed appearance. Median progression-free survival was 4 months for the thoracic radiotherapy group and 3 months for the control group. We then inspect data from bioresorbable everolimus-eluting scaffold stent versus a metallic everolimus-eluting stent for ischemic heart disease caused by de-novo native coronary artery lesions - ABSORB II - study, in terms of one-year out. The Lancet reviews are about HIV in sex workers. The Lancet case of the week has a cough and antibodies directed at collagen type II.