Autosomal-dominant dystrophy with humeroperoneal weakness and cardiopathy: a genetic variant of Emery-Dreifuss disease?

Two females mother and daughter, were affected by a neuromuscular disorder, characterized by slow progression, humeroperoneal weakness and wasting, limited neck flexion, elbow and ankle joint contractures, cardiopathy and myopathic pattern on EMG. Muscle histology and histochemistry showed type I fiber atrophy and predominance in both. Cardiac abnormalities, in the first case, were suggestive of a hypertrophic cardiomyopathy while in the second hypotension and chronic bradycardia were present.Neurological signs, EMG and morphology seemed to point to a genetic variant of the form of dystrophy named Emergy-Dreifuss disease.The mode of transmission and cardiac abnormalities, however, raise the problem of variability even in this well-defined, usually X-linked, disorder.

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Sommario Questa è la prima descrizione di madre e figlia affette da una infrequente malattia muscolare, caratterizzata da progressione lenta, ipostenia con atrofia a distribuzione omero-peroneale, presenza di contratture articolari, cardiopatia e pattern miopatico dell'EMG.Istologia e istochimica muscolare hanno mostrato in entrambi i soggetti atrofia e predominanza delle fibre del I tipo. Le anormalità cardiologiche rilevate nel 1° caso, erano a favore di una cardiomiopatia ipertrofica, mentre nel secondo caso erano presenti ipotensione e bradicardia.Segni neurologici, elettromiografici, reperti istologici ed istochimici sembrano configurare nelle nostre pazienti una variante genetica della forma di distrofia muscolare chiamata Emery-Dreifuss disease. Tuttavia, la modalità di trasmissione e il tipo delle anormalità cardiologiche, diverse nelle due pazienti, sollevano il problema di variabilità fenotipiche, anche in entità clinico-genetiche usualmente ben definite quali la malattia di Emery-Dreifuss.

     

Morphology and distribution of Alzheimer neuritic (senile) and amyloid plaques in striatum and diencephalon

Summary Mapping of striatal and diencephalic plaque distribution was conducted in 25 cases of dementia of the Alzheimer type. This analysis was carried out by fluorescence microscopy of paraffinembedded tissue sections treated with Thioflavine S as fluorochrome. Consistent differences in plaque morphology and density between nuclei and fiber tracts were observed. Striatal and pallidal distribution was uneven, with plaque aggregation near and within certain fiber tracts: capsules, medullary laminae, and radial fasciculi. Diencephalic plaques showed also preferred aggregation near and within fiber tracts and within the intralaminar nuclei.The different subcortical plaque morphologies observed according to the nuclear or fiber tract location of the amyloid plaque, indicates that the peripheral (halo) portion of the plaque is determined by the neuropil response to the primary event: the amyloid deposit.No correlation was observed between the distribution of plaques and any particular neurotransmitter system. In that respect, plaques were present within the nucleus basalis. Neurofibrillary tangle distribution was also seen to be dissociated from plaque distribution.     

Dietary Fiber and Its Source Are Associated with Cardiovascular Risk Factors in Korean Adults

We examined the associations of dietary fiber and its source with cardiovascular risk factors in Korean adults. This cross-sectional study involved 16,792 adults from the 2013–2018 Korea National Health and Nutrition Examination Survey data. Dietary data were obtained using a 24 h recall method and used to evaluate intakes of total dietary fiber and its source and fruit consumption. Cardiovascular risk factors included obesity, abdominal obesity, metabolic syndrome, hypercholesterolemia, hypertension, and type 2 diabetes. Multiple logistic regression was used to examine the associations of dietary fiber and its source with cardiovascular risk factors by sex. Total fiber and fruit fiber intake in men were inversely associated with metabolic syndrome (Q5 vs. Q1: odds ratios (OR) = 0.69, 95% confidence intervals (CI) = 0.53–0.92 for total fiber; Q4 vs. Q1: OR = 0.76, 95% CI = 0.61–0.93 for fruit fiber). Among women, a higher intake of fruit fiber was related to a reduced prevalence of obesity (Q4 vs. Q1: OR = 0.85, p trend = 0.029) and abdominal obesity (Q4 vs. Q1: OR = 0.82, p trend = 0.026). Total fruit and whole fruit consumption was inversely associated with obesity, abdominal obesity, and metabolic syndrome in men and hypertension in women. The amount and sources of fiber are associated with metabolic diseases in Korean adults and should be considered in the context of overall dietary quality.     

Vagally Mediated Gut-Brain Relationships in Appetite Control-Insights from Porcine Studies

Signals arising from the upper part of the gut are essential for the regulation of food intake, particularly satiation. This information is supplied to the brain partly by vagal nervous afferents. The porcine model, because of its sizeable gyrencephalic brain, omnivorous regimen, and comparative anatomy of the proximal part of the gut to that of humans, has provided several important insights relating to the relevance of vagally mediated gut-brain relationships to the regulation of food intake. Furthermore, its large size combined with the capacity to become obese while overeating a western diet makes it a pivotal addition to existing murine models, especially for translational studies relating to obesity. How gastric, proximal intestinal, and portal information relating to meal arrival and transit are encoded by vagal afferents and their further processing by primary and secondary brain projections are reviewed. Their peripheral and central plasticities in the context of obesity are emphasized. We also present recent insights derived from chronic stimulation of the abdominal vagi with specific reference to the modulation of mesolimbic structures and their role in the restoration of insulin sensitivity in the obese miniature pig model.     

A Healthy Diet Rich in Calcium and Vitamin C Is Inversely Associated with Metabolic Syndrome Risk in Korean Adults from the KNHANES 2013–2017

The association between metabolic syndrome and eating patterns remains unclear. We hypothesized that Korean Healthy Eating Index (KHEI) scores were related to metabolic syndrome (MetS) risk in adults in a gender-dependent manner. We aimed to examine the hypothesis using the Korea National Health and Nutrition Examination Survey-VI (2013–2017) data with a complex sample survey design. Adjusted means and 95% confidence intervals of KHEI scores and nutrient intake estimated by the 24-h recall were calculated according to MetS status after adjusting for age, residence area, region, education, obesity, income, drinking status, smoking status, marriage, and exercise. Adjusted odds ratios for MetS were measured according to KHEI quartiles using logistic regression analysis while controlling for covariates. MetS incidence was significantly higher in females than in males. Those who were older, less educated, earning less income, more obese, living in rural areas, drinking severely, non-exercising, and married had higher MetS incidence than those with the opposite state. Total KHEI scores of all components KHEI scores were lower for those with MetS (MetS group) than those without MetS (Non-MetS group) in both genders. For KHEI components, having breakfast and milk and fat intake had lower scores for the MetS group than for the Non-MetS group in women, whereas fruits and milk and milk product intake had lower scores for the MetS group in men. Nutrient intake influenced the MetS risk in females more than in males. Fat, calcium, and vitamin C intakes from 24-h recall were lower in the MetS group than in the Non-MetS group in women. KHEI scores had an inverse association with MetS risk by 0.98-fold in both genders after adjusting for covariates. In conclusion, a healthy diet that includes adequate calcium and vitamin C is associated with a lower the risk of MetS in both men and women.     

脑缺血及再灌注对血液粘度与红细胞变形性的影响

利用大鼠脑缺血及再灌注模型 ,探讨血液粘度、红细胞变形性指标 (DI)在脑缺血及再灌注情况下的变化。实验表明 :在缺血过程中 ,主要由于RBC的代偿作用 ,全血粘度减低 ,RBC变形性增强 ;在再灌注过程中 ,全血与血浆的粘度都升高 ,到再灌注 1 2h发现有恢复正常的趋势 ;说明在缺血、缺氧情况下 ,三磷腺苷减少及一些化学因子的释放促使了这种改变 ,长时间的再灌注会起到修复作用。随着切变率的增加 ,同组实验组中DI的测量值均呈指数函数递增 ,对此建立该模型下的数学方程 :φ =a +b×e[-c(x-x0 ) ] ;同时对同一切变率不同实验组的RBC变形性也做了研究 ,发现DI变化不仅与缺氧及代谢性酸中毒有关 ,而且与RBC自身的特性有关。     

咪唑安定镇静在神外术后躁动病人的应用

观察咪唑安定对神经外科术后躁动病人的镇静作用。发现给予咪唑安定负荷剂量静注后 ,躁动病人 93 %的时间镇静效果满意 ,平均剂量 0 .0 86mg/kg,达到Ramsay 3级镇静水平。持续静脉输注咪唑安定 [药量平均 0 .0 8mg/ (kg·h) ],停药后苏醒时间短 ,长时间应用未见蓄积作用 ,镇静程度易控制 ,不良反应少。     

延期妊娠并发羊水过少对母婴的影响96例临床观察

目的 探讨延期妊娠并发羊水过少对母婴的影响。方法 采用回顾性分析方法,对延期妊娠分娩的产妇羊水正常组244例及羊水过少组96例进行对比分析。结果 羊水过少组中羊水Ⅱ度以上粪染、胎盘成熟Ⅲ^ 级及胎盘钙化、胎儿宫内窘迫、新生儿窒息率、产后出血率及剖宫产率明显高于羊水正常组。结论 羊水过少是胎儿宫内慢性缺氧最敏感的特异性指标,无论是延期妊娠还是过期妊娠一经确珍,应积极引产,估计短时间内不能分娩,宜行剖宫产结束妊娠。     

光纤化学传感器—计算机联用实时在位测定氧氟沙星片体外溶出度

目的：探索一种连续在位测定固体制剂溶出度的新方法和新理论。方法：应用芘丁酸光纤化学传感器和计算机联用在线技术及中国药典（1995版）规定的紫外分光光度法（UV）分别测定氧氟沙星片剂的体外溶出度。结果：在药典规定的测定浓度范围内有良好的线性,相关系数0．9980。方法的日内、日间精密度（RSD）分别为1．18％和1．56％,当信噪比为3时检测限为0．56μg/ml。用中国药典（1995版）规定的紫外分光光度法作对照并进行评价,P＞0．05,显示两种方法所得结果无显著性差异。结论：本法改变传统的取样分析模式,实现了响应快速、准确、灵敏的过程分析。