The N Engl J Med image of the week shows an endoscopic view of a distal esophagus. You are offered adenocarcinoma, candidiasis, Dieulafoy’s lesion, Schatzki’s ring, and systemic sclerosis. We go over all of these conditions. HIV virus enters CD4 lymphocytes via CD4 and the co-receptor, CXCR5. About 1 in 1000 persons are knockouts for CXCR5 and are resistant to HIV. A Berlin HIV patient developed leukemia and received allogenic bone marrow from a CXCR5 knockout person and was cured of AIDS. Investigators therefore studied whether site-specific modification of the gene (“gene editing”) — in this case, the infusion of autologous CD4 T cells in which the CCR5 gene was rendered permanently dysfunctional by a zinc-finger nuclease (ZFN) — is safe. They enrolled 12 patients in an open-label, nonrandomized, uncontrolled study of a single dose of ZFN-modified autologous CD4 T cells. Six patients underwent an interruption in antiretroviral treatment 4 weeks after the infusion of 10 billion autologous CD4 T cells, 11 to 28% of which were genetically modified with the ZFN. The cells elicited no adverse reactions and seemed impervious to HIV. The next two groups of investigators observed a syndrome of intermittent fevers, early-onset lacunar strokes and other neurovascular manifestations, livedoid rash, hepatosplenomegaly, and systemic vasculopathy in families and in unrelated patients. Both groups performed whole-exome sequencing and candidate-gene sequencing in siblings with polyarteritis nodosa and other patients with small-vessel vasculitis. Both groups identified, CECR1, the gene encoding adenosine diaminase (ADA)-2, as causative in familial polyarteritis nodosa. We learn about cat-eye syndrome, adenosine diaminases, and fascinating new disease-causing mechanisms. Premature ovarian failure is a major cause of female infertility. The next group of invesgiators used whole-exome sequence analysis of a large consanguineous family with inherited premature ovarian failure. They identified a homozygous 1-bp deletion inducing a frameshift mutation in STAG3 on chromosome 7. STAG3 is a part of the cohesion complex that has to do with regulating meiosis and mitosis. A knockout mouse recapitulated the syndrome. Supporting the importance of meiosis regulation in primary ovarian insufficiency, Chinese scientists identified HFM1, which encodes a protein necessary for homologous recombination of chromosomes, as also causative for primary ovarian failure. Another knockout mouse model published earlier supports their finding. Radical prostatectomy reduces mortality among men with localized prostate cancer; however, important questions regarding long-term benefits remain. Between 1989 and 1999, a Scandinavian study randomly assigned 695 men with early prostate cancer to watchful waiting or radical prostatectomy and followed them through the end of 2012. We learn that radical prostatectomy improved survival compared to watchful waiting (number needed to treat = 8 overall), lowered metastatic disease burden, and the necessity of palliative treatments. We encounter a 40 year-old woman with an earlier teratoma and current treatment for hepatitis B with tenofovir, who enters with profound weakness. She has severe osteomalacia, hypophosphatemia, metabolic acidosis, hypokalemia, glycosuria, phosphaturia, and aminoaciduria. In the Lancet we inspect two compression hosiery studies. The first study looked at this approach compared to compression bandages in persons with venous leg ulcers. The second study addressed the possibility to hosiery would reduce incidence of the post- thrombotic syndrome. The Confidential Inquiry into premature deaths of people with intellectual disabilities in England was commissioned to provide evidence about contributory factors to avoidable and premature deaths in the mentally retarded population. The outcome points to various deficits in health care for this population. Autism is a set of heterogeneous neurodevelopmental conditions, characterized by early-onset difficulties in social communication and unusually restricted, repetitive behavior and interests. The worldwide population prevalence is about 1%. We review the topic. Delirium of the elderly is an acute disorder of attention and cognition in elderly people (ie, those aged 65 years or older) that is common, serious, costly, under-recognized, and often fatal. The best strategy seems to involve stopping any and all psychotropic drugs given to these patients. We close with a patient who had common variable immunodeficiency. The patient reminds me of a very similar patient we managed for years as an illicit “outpatient” on our wards. Join me for all

Source: http://www.charite-buch.de/rrkweb/veranstaltung/dateien/cjc-text.pdf

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Continuació de la pàgina anterior La línia de l’AVE facilitarà el transport de mercaderies Pensa vostè que la construcció de la línia de l’AVE de la meva indústria (% respostes) (Barcelona-Madrid, Barcelona-França), facilitarà el transport de mercaderies de la vostra empresa? (empreses industrials) Núm. 5 · Maig de 2007 Aquest Informe s’ha elaborat per

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