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Summary A 21/2 year old girl who, since the age of 1 year presented, a progressive psychomotor retardation. A cortical biopsy appeared normal by light microscopy, but by electron microscopy an abundance of dilated spheroid-like axons were found. They contained either vesiculo-tubular material or densly packed filamentous material. Synapses were demonstrated between the spheroids and other neuronal bodies or dendrites. Crystalline like material was observed within mitochondria and the spheroids. It is suggested that Neuroaxonal dystrophy may be diagnosed by cortical brain biopsy.
Zusammenfassung Ein 21/2 Jahre altes arabisches Mädchen (Eltern Cousins 2. Grades) bot seit dem 1. Lebensjahr progressive psychomotorische Retardierung. Eine Hirnrindenbiopsie ergab normale lichtoptische Verhältnisse, während elektronenoptisch reichlich schollenartige Axonauftreibungen gefunden wurden. Ihr Inhalt setzte sich aus vesico-tubulärem Material oder aus dicht gepacktem filamentösen Material zusammen. Synapsen waren zwischen den Sphäroiden und anderen neuronalen Somata sowie Dendriten nachweisbar. In den Mitochondrien und Sphäroiden fanden sich kristalline Strukturen. Es wird vermutet, daß die neuroaxonale Dystrophie durch Rindenbiopsie diagnostiziert werden kann.相似文献
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Britt W. Jensen Charlotte Watson Nophar Geifman Jennifer L. Baker Ellena Badrick Andrew G. Renehan 《Obesity facts》2022,15(2):150
IntroductionBody mass index (BMI) is often elevated at type 2 diabetes (T2D) diagnosis. Using latent class trajectory modelling (LCTM) of BMI, we examined whether weight loss after diagnosis influenced cancer incidence and all-cause mortality.MethodsFrom 1995 to 2010, we identified 7,708 patients with T2D from the Salford Integrated Record database (UK) and linked to the cancer registry for information on obesity-related cancer (ORC), non-ORC; and all-cause mortality. Repeated BMIs were used to construct sex-specific latent class trajectories. Hazard ratios (HRs) and 95% confidence intervals (CIs) were estimated using Cox regression models.ResultsFour sex-specific BMI classes were identified; stable-overweight, stable-obese, obese-slightly-decreasing, and obese-steeply-decreasing; comprising 41%, 45%, 13%, and 1% of women, and 45%, 37%, 17%, and 1% of men, respectively. In women, the stable-obese class had similar ORC risks as the obese-slightly-decreasing class, whereas the stable-overweight class had lower risks. In men, the obese-slightly-decreasing class had higher risks of ORC (HR = 1.86, 95% CI: 1.05–3.32) than the stable-obese class, while the stable-overweight class had similar risks No associations were observed for non-ORC. Compared to the stable-obese class, women (HR = 1.60, 95% CI: 0.99–2.58) and men (HR = 2.37, 95% CI: 1.66–3.39) in the obese-slightly-decreasing class had elevated mortality. No associations were observed for the stable-overweight classes.ConclusionPatients who lost weight after T2D diagnosis had higher risks for ORC (in men) and higher all-cause mortality (both genders) than patients with stable obesity. 相似文献
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Intolerance to milk protein 总被引:1,自引:0,他引:1
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Haim Flaksman Yshai Ron Nophar Ben-David Udi Cinamon Dalia Levy Eyal Russo Maxim Sokolov Yona Avni Yehudah Roth 《European archives of oto-rhino-laryngology》2006,263(7):637-640
Laryngopharyngeal sensation is important in the normal process of swallowing, it is often impaired after neurological events and it has been common practice in such an occurrence to order non-oral tube feeding to prevent aspiration. This study assesses a novel approach to the evaluation of the laryngopharyngeal sensation that allows for improved triage of aspiration risk and more lenience towards oral feeding. This is a case series with follow-up period ranging from 6 to 24 months. Forty patients with neurological deficiencies were tested by a modified laryngopharyngeal sensation study that included evaluation of both supra and infra-glottis. All patients had impaired supra glottic sensation but had good infra glottic sensation that enabled cough protection. All had received oral feeding. Main outcome measure is incident aspiration pneumonia. Twenty-two patients maintained oral feeding without any evidence of aspiration. Eighteen patients had some aspirations associated with cough, and were maintained on modified oral feeding. Out of these 18 patients, four patients (10% of the entire group) developed aspiration pneumonia. The presented procedure identified patients with impaired supraglottic sensation but preserved good infra glottic sensation. This observation enables safe oral feeding in most patients and therefore offers a better quality of life for these individuals. 相似文献
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