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Extensive brownish discoloration of the small bowel is rare and has been described mainly in association with malabsorption disorders. It is related to deficiency of the fat soluble vitamin E. Vitamin E is an antioxidant substance that prevents peroxidation of unsaturated fatty acids. Vitamin E deficiency may result in oxidized lipids, which when polymerized with polysaccharides form the brown, PAS-positive pigment termed ceroid or lipofuscin. The deposition of pigmented granules in the effected tissues accounts for the brownish discoloration. We present three patients ultimately found to have "brown bowel syndrome (BBS)," in which the symptoms, preoperative findings, and respective diagnoses were different. In all three patients, serum Vitamin E levels were found to be extremely low. 相似文献
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Kun?Guo Robert?G.?RobertsonEmail author Sasan?Mahmoodi Yoav?Tadmor Malcolm?P.?Young 《Experimental brain research. Experimentelle Hirnforschung. Expérimentation cérébrale》2003,150(3):363-374
Face perception plays a crucial role in primate social communication. We have investigated the pattern of eye movements produced
by rhesus monkeys (Macaca mulatta) as they viewed images of faces. Eye positions were recorded accurately using implanted eye coils, while neutral upright,
inverted and scrambled images of monkey and human faces were presented on a computer screen. The monkeys exhibited a similar
eye scan pattern while viewing familiar and unfamiliar monkey face images, or while viewing monkey and human face images.
No differences were observed in the distribution of viewing times, number of fixations, time into the trial of first saccade
to local facial features, and the temporal and spatial characteristics of viewing patterns across the facial images. However,
there was a greater probability of re-fixation of the eye region of unfamiliar faces during the first few seconds of the trial
suggesting that the eyes are important for the initial encoding of identity. Indeed, the highest fixation density was found
in the eye region of all the face images. The viewing duration and the number of fixations per image decreased when inverted
or scrambled faces were presented. The eye region in these modified images remained the primary area of fixation. However,
the number of fixations directed to the eyes decreased monotonically from the upright images through the inverted versions
to the scrambled face images. Nonetheless, the eyes remain the most salient facial substructure regardless of the arrangement
of other features, although the extent of salience which they attain may depend both on the low level properties of the eyes
and on the global arrangement of facial features.
Electronic Publication 相似文献
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Diffuse leiomyomatosis is associated with the inherited kidney disease Alport syndrome, and characterized by visceral smooth muscle overgrowth within the respiratory, gastrointestinal and female reproductive tracts. Although partial deletions of the type IV collagen genes COL4A5 and COL4A6, paired head-to-head on chromosome Xq22, are known to cause diffuse leiomyomatosis, loss of function for type IV collagen does not explain smooth muscle overgrowth. To further clarify pathogenic mechanisms, we have characterized novel deletions in patients with Alport syndrome-diffuse leiomyomatosis or Alport syndrome alone. A 27.6-kb deletion, in a female with Alport syndrome-diffuse leiomyomatosis, is marked by the most proximal, i.e. most 5', COL4A5 breakpoint described to date. By comparing this deletion to others described here and previously, we have defined a minimal overlap region, only 4.2 kb in length and containing the COL4A5-COL4A6 proximal promoters, loss of which contributes to smooth muscle overgrowth. A novel deletion in a male with Alport syndrome alone is>1.4 Mb in length, encompassing COL4A5 and COL4A6 entirely, as well as neighboring genes. We postulate that loss of the 4.2-kb region in diffuse leiomyomatosis causes misregulation of neighboring genes, contributing to smooth muscle overgrowth. Deletion of the neighboring genes themselves may afford protection from this condition. 相似文献
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Clustering of allergenic pollen on the basis of skin responses of atopic patients by matrix analysis
The responses of 148 atopic patients to some 43 different extracts of allergenic pollen were tested by prick tests. The measure of dissimilarity was introduced and calculated for all pairs of allergens. The investigated allergens were clustered into groups, according to their unbiased greatest similarity, by a matrix-structuring method. Results indicate that subgroups of allergens can be distinguished even within groups of closely related pollen allergens that were believed to be fully cross-reactive. A few cases are demonstrated for various varieties of olives, pecans, date palms, and turf grasses and for some wild chenopods and amaranths. The usefulness of the suggested solution for allergy research and for clinical practice is discussed. 相似文献
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Dina Marek‐Yagel Yoav Bolkier Ortal Barel Amir Vardi David Mishali Uriel Katz Yishay Salem Shachar Abudi Omri Nayshool Nitzan Kol Annick Raas‐Rothschild Gideon Rechavi Yair Anikster Ben Pode‐Shakked 《American journal of medical genetics. Part A》2020,182(5):987-993
The genetic basis of congenital heart malformations associated with disruption of left–right (L–R) asymmetry is broad and heterogenous, with variants in over 25 genes implicated thus far. Of these, deleterious variants in the Growth/Differentiation Factor 1 (GDF1) gene have been shown to cause heterotaxy with varied complex heart malformations of left–right patterning, in 23 individuals reported to date, either in monoallelic or biallelic state. We report three unrelated individuals exhibiting right isomerism with congenital heart defects, each originating from a consanguineous kindred of Arab‐Muslim descent. Using whole exome sequencing, a shared novel homozygous truncating c.608G > A (p.W203*) variant in the GDF1 gene was revealed as the molecular basis of their disease. Subsequently, targeted sequencing of this variant showed full segregation with the disease in these families, with a total of over 15 reportedly affected individuals, enabling genetic counseling, prenatal diagnosis, and planning of future pregnancies. Our findings further confirm the association of biallelic GDF1 variants, heterotaxy and congenital heart defects of left–right patterning, and expand the previously described phenotypic spectrum and mutational profile. Moreover, we suggest targeted screening for the p.W203* variant in relevant clinical circumstances. 相似文献
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The patient described here, with malignant non-beta islet cell tumor of the head of the pancreas, was treated by resection of the tumor and metastases. Additional pathology of perforated duodenal ulcer and pyloric stenosis required vagotomy and pyloroplasty. The maintenance of normal gastrin levels after the operation indicates a good prognosis. We believe that the low-risk Zollinger-Ellison patient should be treated surgically and the tumor removed. When no tumor can be detected, parietal cell vagotomy should be performed to assist the pharmacological control of the gastric acid hypersecretion. Extensive surgery, such as total gastrectomy, is no longer the treatment of choice and is reserved for the so-called "cimetidine failure." 相似文献
10.
Background: The aim of this study was to examine the anti-inflammatory and anti-apoptotic patterns of omega-3 polyunsaturated fatty acids (n-3 PUFAs) during methotrexate (MTX) induced intestinal damage in cell culture and in a rat model. Methods: Non-treated and treated with MTX HT 29 and HCT116cells were exposed to increasing doses of n-3 PUFAs and cell viability was evaluated using PrestoBlue® assay. Male Sprague-Dawley rats were divided into 4 experimental groups: Control rats, CONTR+n-3 PUFA rats that were treated with oral n-3 PUFA, MTX rats were treated with MTX given IP, and MTX+n-3 PUFA rats were treated with oral n-3 PUFA before and following injection of MTX. Intestinal mucosal parameters and mucosal inflammation, enterocyte proliferation and apoptosis, TNF-α in mucosal tissue and plasma (ELISA), NF-κB, COX-2, TNF-α, Fas, FasL, Fadd, Bid, Bax and Bcl-2gene and protein levels were determined 72 h following MTX injection. Results: Exposure of HT 29 and HCT116cells to n-3 PUFA attenuated inhibiting effects of MTX on cell viability. MTX-n-3 PUFA rats demonstrated a lower intestinal injury score and enhanced intestinal repair. A significant decrease in enterocyte apoptosis in MTX+n-3 PUFA rats was accompanied by decreased TNF-α, FAS, FasL, FADD and BID mRNA levels. Decreased NF-κB, COX-2 and TNF-α levels in mucosa was accompanied by a decreased number of IELs and macrophages. Conclusions: n-3 PUFAs inhibit NF-κB/COX-2 induced production of pro-inflammatory cytokines and inhibit cell apoptosis mainly by extrinsic pathway in rats with MTX-induced intestinal damage. 相似文献