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排序方式: 共有510条查询结果,搜索用时 46 毫秒
1.
Radi O Parma P Imbeaud S Nasca MR Uccellatore F Maraschio P Tiepolo L Micali G Camerino G 《American journal of medical genetics. Part A》2005,(3):241-246
We describe a large inbred Sicilian family that includes four 46, XX (SRY-) brothers. Palmoplantar hyperkeratosis (PPK) and an associated predisposition to squamous cell carcinoma (SCC) of the skin, segregates as a recessive trait within the family. Interestingly, all the PPK-affected members of the family are phenotypic males (46,XY or 46,XX) while seven XX sibs are healthy phenotypic females with no signs of PPK. We propose that homozygosity for a single mutational event, possibly including contiguous genes, may cause PPK/SCC in both XY or XX individuals and sex reversal in XX individuals. The family is informative for linkage analysis for the PPK trait and allows linkage exclusion for the sex reversal trait. Here we show that 15 loci involved in PPK etiology, skin differentiation, function or malignancy, and nine loci involved in sex determination/differentiation are not implicated in the phenotype of this family. 相似文献
2.
Elena Gangitano Rossella Tozzi Orietta Gandini Mikiko Watanabe Sabrina Basciani Stefania Mariani Andrea Lenzi Lucio Gnessi Carla Lubrano 《Nutrients》2021,13(3)
Severe obesity is associated with an increased risk of admission to intensive care units and need for invasive mechanical ventilation in patients with COVID-19. The association of obesity and COVID-19 prognosis may be related to many different factors, such as chronic systemic inflammation, the predisposition to severe respiratory conditions and viral infections. The ketogenic diet is an approach that can be extremely effective in reducing body weight and visceral fat in the short term, preserving the lean mass and reducing systemic inflammation. Therefore, it is a precious preventive measure for severely obese people and may be considered as an adjuvant therapy for patients with respiratory compromise. 相似文献
3.
Domijan AM Peraica M Fuchs R Lucić A Radić B Balija M Bosanac I Grgicević D 《Arhiv za higijenu rada i toksikologiju》1999,50(3):263-271
Healthy blood donors from the city of Zagreb were checked for the presence of a nephrotoxic mycotoxin ochratoxin A (OTA) in the plasma. Samples of blood were collected in June, September, and December 1997, and March 1998, totalling 200 or 50 in each round. The concentrations of OTA were measured using high pressure liquid chromatography (HPLC) method (detection limit 0.2 ng OTA/ml of plasma). The frequency of OTA-positive samples (> 0.2 ng/ml of plasma) showed significant seasonal variation (P < 0.001). The frequency of OTA-positive samples was the highest in March (65%) and it gradually decreased towards December (12%). The high frequency of positive samples coincided with seasons favouring growth of moulds and production of toxins. The daily intake of OTA by healthy persons in Zagreb was estimated from the mean concentration of OTA in samples collected during the whole year (0.19 ng OTA/ml plasma). The estimated daily intake was 0.26 ng/kg b.w., that is, substantially below the tolerable daily intake proposed by World Health Organization (16.0 ng/kg b.w.). 相似文献
4.
Correction to: Macular microvascular changes in children with transfusion-dependent beta-thalassemia
AttaAllah Heba Radi Mousa Suzan Omar Omar Ismail Ahmed Nagib 《Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie》2022,260(4):1431-1431
Graefe's Archive for Clinical and Experimental Ophthalmology - 相似文献
5.
Optimization of an elastic tissue histochemical stain to enable clear, crisp visualization and quantification of pulmonary small vasculature is central to the histomorphologic quantitation of pulmonary vasculature wall thickness. To accomplish elastic tissue histochemical stain optimization, five histochemical elastin stains were compared to identify the internal and external elastic laminae of small arteries (50–100 μm in external diameter) to very small intra-acinar vessels (10–50 μm in external diameter) in rat lung tissue sections. The five elastin stains included: a modified Verhoeff’s elastin stain, Miller’s elastic van Gieson, and three modifications of the Miller’s stain. The Miller elastin stain is a progressive procedure that does not require a differentiation step, thus enabling consistency and reliability of staining from slide to slide. A modified Miller’s histochemical staining methodology successfully highlighted the pulmonary small caliber vasculature wall thickness. The modified method was technically easier and less time consuming to perform than regressive methods. To improve elastin-to-background contrast, modifications to the Miller’s stain included bypassing the nuclear staining and using a neutral red counterstain in place of the van Gieson counterstain, both of which greatly facilitated observer-assisted pulmonary vascular structure identification for histomorphometric quantitation. 相似文献
6.
Hesham Radi Obeidat Sahar Al-Dossary Abdulsalam Asseri 《Saudi Pharmaceutical Journal》2015,23(4):455-457
Kawasaki disease (KD) is an acute, self-limited vasculitis of unknown etiology that occurs predominantly in infants and children younger than 5 years of age. Coronary artery abnormalities are the most serious complication.Based on the literatures infusion of Intravenous Immunoglobulin of 2 g/kg and a high dose of oral aspirin up to 100 mg/kg/day are the standard treatment for Kawasaki disease in the acute stage, and should be followed by antiplatelet dose of aspirin for thrombocytosis. Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency is an inherited X-linked hereditary disorder, and aspirin can induce hemolysis in patients with G6PD deficiency. We report a case of a 5 year and 8 month old male with KD and G6PD deficiency. 相似文献
7.
Anthony Park Olivia Uddin Ying Li Radi Masri Asaf Keller 《The journal of pain》2018,19(7):727.e1-727.e15
Pain after spinal cord injury (SCI-Pain) is one of the most debilitating sequelae of spinal cord injury, characterized as relentless, excruciating pain that is largely refractory to treatments. Although it is generally agreed that SCI-Pain results from maladaptive plasticity in the pain processing pathway that includes the spinothalamic tract and somatosensory thalamus, the specific mechanisms underlying the development and maintenance of such pain are yet unclear. However, accumulating evidence suggests that SCI-Pain may be causally related to abnormal thalamic disinhibition, leading to hyperactivity in the posterior thalamic nucleus (PO), a higher-order nucleus involved in somatosensory and pain processing. We previously described several presynaptic mechanisms by which activity in PO is regulated, including the regulation of GABAergic as well as glutamatergic release by presynaptic metabotropic gamma-aminobutyric acid (GABAB) receptors. Using acute slices from a mouse model of SCI-Pain, we tested whether such mechanisms are affected by SCI-Pain. We reveal 2 abnormal changes in presynaptic signaling in the SCI-Pain condition. The substantial tonic activation of presynaptic GABAB receptors on GABAergic projections to PO—characteristic of normal animals—was absent in mice with SCI-Pain. Also absent in mice with SCI-Pain was the normal presynaptic regulation of glutamatergic projections to the PO by GABAB receptors. The loss of these regulatory presynaptic mechanisms in SCI-Pain may be an element of maladaptive plasticity leading to PO hyperexcitability and behavioral pain, and may suggest targets for development of novel treatments.
Perspective
This report presents synaptic mechanisms that may underlie the development and maintenance of SCI-Pain. Because of the difficulty in treating SCI-Pain, a better understanding of the underlying neurobiological mechanisms is critical, and may allow development of better treatment modalities. 相似文献8.
Bourne Y Kolb HC Radić Z Sharpless KB Taylor P Marchot P 《Proceedings of the National Academy of Sciences of the United States of America》2004,101(6):1449-1454
The 1,3-dipolar cycloaddition reaction between unactivated azides and acetylenes proceeds exceedingly slowly at room temperature. However, considerable rate acceleration is observed when this reaction occurs inside the active center gorge of acetylcholinesterase (AChE) between certain azide and acetylene reactants, attached via methylene chains to specific inhibitor moieties selective for the active center and peripheral site of the enzyme. AChE catalyzes the formation of its own inhibitor in a highly selective fashion: only a single syn1-triazole regioisomer with defined substitution positions and linker distances is generated from a series of reagent combinations. Inhibition measurements revealed this syn1-triazole isomer to be the highest affinity reversible organic inhibitor of AChE with association rate constants near the diffusion limit. The corresponding anti1 isomer, not formed by the enzyme, proved to be a respectable but weaker inhibitor. The crystal structures of the syn1- and anti1-mouse AChE complexes at 2.45- to 2.65-A resolution reveal not only substantial binding contributions from the triazole moieties, but also that binding of the syn1 isomer induces large and unprecedented enzyme conformational changes not observed in the anti1 complex nor predicted from structures of the apoenzyme and complexes with the precursor reactants. Hence, the freeze-frame reaction offers both a strategically original approach for drug discovery and a means for kinetically controlled capture, as a high-affinity complex between the enzyme and its self-created inhibitor, of a highly reactive minor abundance conformer of a fluctuating protein template. 相似文献
9.
Orietta D'Orlando Fang Zhao Brigitte Kasper Zane Orinska Jürgen Müller Irm Hermans‐Borgmeyer Gillian M. Griffiths Udo Zur Stadt Silvia Bulfone‐Paus 《European journal of immunology》2013,43(1):194-208
Syntaxin 11 (STX11) controls vesicular trafficking and is a key player in exocytosis. Since Stx11 mutations are causally associated with a familial hemophagocytic lymphohistio‐cytosis, we wanted to clarify whether STX11 is functionally important for key immune cell populations. This was studied in primary cells obtained from newly generated Stx11?/? mice. Our data revealed that STX11 is not only widely expressed in different immune cells, but also induced upon LPS or IFN‐γ treatment. However, Stx11 deficiency does not affect macrophage phagocytic function and cytokine secretion, mast cell activation, or antigen presentation by DCs. Instead, STX11 selectively controls lymphocyte cytotoxicity in NK and activated CD8+ T cells and degranulation in neutrophils. Stx11?/? NK cells and CTLs show impaired degranulation, despite a comparable activation, maturation and expression of the complex‐forming partners MUNC18–2 and VTI1B. In addition, Stx11?/? CTLs and NK cells produce abnormal levels of IFN‐γ. Since functional reconstitution rescues the defective phenotype of Stx11?/? CTLs, we suggest a direct, specific and key role of STX11 in controlling lymphocyte cytotoxicity, cytokine production and secretion. Finally, we show that these mice are a very useful tool for dissecting the role of STX11 in vesicular trafficking and secretion. 相似文献
10.
The Croatian Institute of Public Health (CIPH) collects health care related statistical data based on the Republic of Croatia''s Annual Plan of Implementation of Statistical Activities. The purpose of this study was to analyse the CIPH data retrieved from annual reports, obtained from contractual teams and institutions related to dental medicine activities, collected in respective counties and for the entire country. Material and methods: The data were collected from the Croatian Statistical Health Care Yearbook for the period from 2009 to 2013. Results: The analysis has shown the increase in the number of insured persons (5%), but the decrease in the number of persons who received care (10%) and the increase in the number of visits (14%) and general examinations (13%). The majority of the beneficiaries were from the City of Zagreb with the highest number of visits, but with a low number of general examinations included in these visits (11%); while the Zadar County had the highest number of general examinations in terms of dental health care users (90.6%) and the proportion of general examinations in visits (30%). The most common diagnosis was dental caries (43%). The incomplete and insufficient reporting from some counties, inadequate recording of diagnoses and of curative and preventive procedures could be the factors affecting the quantity and quality of obtained data. Proper and regular submissions of reports to counties'' public health institutes, regular preventive examinations, adequate recording of diagnoses and procedures would contribute positively to further health planning and the implementation of preventive measures for the improvement of oral health. Conclusion: The data analysis gives an insight into the current situation allowing on such basis further planning and conducting of activities at national and local level. Further analyses would help to get a better perspective and improvement of dental medicine activities.Key words: Dental Health Surveys, Public Health Dentistry, Health Policy, National Health Programs, Observer Variation, Health Planning, Data Interpretation, Statistical 相似文献