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Bentley MD Rodriguez-Porcel M Lerman A Sarafov MH Romero JC Pelaez LI Grande JP Ritman EL Lerman LO 《Kidney international》2002,61(3):1056-1063
BACKGROUND: Experimental hypercholesterolemia is associated with pro-inflammatory changes and impaired regulation of tissue perfusion, which may lead to neovascularization. However, it is yet unknown whether such changes take place in the kidney. In this study, using a novel three-dimensional (3-D) micro computed-tomography technique we tested the hypothesis that hypercholesterolemia was associated with increased microvascular density in the renal cortex. METHODS: Kidneys were excised from pigs after 12 weeks of either a normal (N = 6) or high cholesterol (HC; N = 5) diet, histology slides processed, and a segmental renal artery injected with a radio-opaque intravascular silicone polymer. Renal samples were scanned with micro computed-tomography, transverse and three-dimensional images were reconstructed, and microvessels (80 to 360 microm in diameter) counted in situ. RESULTS: Serum cholesterol levels were significantly higher in hypercholesterolemic compared to normal pigs (383 +/- 76 vs. 81 +/- 7 mg/dL, P < 0.01), and microvascular spatial density was significantly higher in their inner and middle renal cortex (189 +/- 7 vs. 126 +/- 6 microvessels/cm2, P < 0.0001). Hypercholesterolemic kidneys also showed mild interstitial mononuclear infiltration and heavier immunostaining of vascular endothelial growth factor, but no other signs of morphological damage. CONCLUSIONS: These results demonstrate that early diet-induced hypercholesterolemia is associated with increased microvascular density in the renal cortex, which precedes signs of overt renal morphological damage. These alterations may potentially affect regulation and/or spatial distribution of intrarenal blood flow in hypercholesterolemia, and may participate in renal disease progression. 相似文献
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Andrey Kirov Stayko Sarafov Zornitza Pavlova Tihomir Todorov Teodora Chamova Mariana Gospodinova 《Amyloid》2013,20(4):181-185
AbstractHereditary transthyretin amyloidosis is an autosomal dominant genetic disorder caused by missense mutations in the TTR gene resulting in amyloid formation of the transthyretin protein. Depending on the system affection, the manifestations may be different and high heterogeneity in the penetrance is observed. An endemic region in Bulgaria exists where the TTR mutation Glu89Gln is found with high frequency. This is a rare mutation and was probably introduced in the population by a common ancestor. This phenomenon, called “founder effect” was proved in carrier families by haplotype analysis of microsatellite markers showing linkage disequilibrium. Allele frequencies were analyzed and haplotype reconstruction was done with Arlequin v.3.01 software. The common ancestry of the carriers was demonstrated using additional data for their genealogies and microsatellite data from a control group of non-affected individuals. The results show that the mutation Glu89Gln is linked to one haplotype, called “hypothetical founder haplotype” which was compared to published haplotype data from other European patients and no similarity was found. Further population genetics studies of carriers of the Glu89Gln mutation from other endemic regions are required in order to clarify the geographical distribution of the mutation. 相似文献
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TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis
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Sara Van Mossevelde Federica Perrone Lubina Dillen Bavo Heeman Veerle Bäumer Sebastiaan Engelborghs Jan De Bleecker Jonathan Baets Ellen Gelpi Ricardo Rojas‐García Jordi Clarimón Alberto Lleó Janine Diehl‐Schmid Panagiotis Alexopoulos Robert Perneczky Matthis Synofzik Jennifer Just Ludger Schöls Caroline Graff Håkan Thonberg Barbara Borroni Alessandro Padovani Albena Jordanova Stayko Sarafov Ivailo Tournev Alexandre de Mendonça Gabriel Miltenberger‐Miltényi Frederico Simões do Couto Alfredo Ramirez Frank Jessen Michael T. Heneka Estrella Gómez‐Tortosa Adrian Danek Patrick Cras Rik Vandenberghe Peter De Jonghe Peter P. De Deyn Kristel Sleegers Marc Cruts Christine Van Broeckhoven Silvia Testi 《Human mutation》2017,38(3):297-309
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Dagmara Kabzińska Halina Strugalska-Cynowska Anna Kostera-Pruszczyk Barbara Ryniewicz Renata Posmyk Alina Midro Pavel Seeman Lucia Báranková Magdalena Zimoń Jonathan Baets Vincent Timmerman Velina Guergueltcheva Ivailo Tournev Stayko Sarafov Peter De Jonghe Albena Jordanova Irena Hausmanowa-Petrusewicz Andrzej Kochański 《Neurogenetics》2010,11(3):357-366
Over 40 mutations in the GDAP1 gene have been shown to segregate with Charcot–Marie–Tooth disease (CMT). Among these, only two mutations, i.e., S194X and Q163X have been reported in a sufficient number of CMT families to allow for the construction of reliable phenotype–genotype correlations. Both the S194X and Q163X mutations have been shown to segregate with an early-onset and severe neuropathy resulting in loss of ambulance at the beginning of the second decade of life. In this study, we identified the L239F mutation in the GDAP1 gene in one Bulgarian and five Polish families. We hypothesized that the L239F mutation may result from a founder effect in the European population since this mutation has previously been reported in Belgian, Czech, and Polish patients. In fact, we detected a common disease-associated haplotype within the 8q13-q21 region in the Polish, German, Italian, Czech, and Bulgarian CMT families. Like the previously detected “regional” S194X and Q163X mutations, respectively present in Maghreb countries and in patients of Spanish descent, the L239F mutation seems to be the most common GDAP1 pathogenic variant in the Central and Eastern European population. Given the likely presence of a common ancestor harboring the L239F mutation, we decided to compare the phenotypes of the CMT (L239F) patients collected in this study with those of previously reported cases. In contrast to CMT4A caused by the S194X and Q163X mutations, the CMT phenotype resulting from the L239F substitution represents a milder clinical entity with a long-preserved period of ambulance at least until the end of the second decade of life. 相似文献
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Sommerfeldt SC Barton SS Stayko P Patterson SK Pimlott J 《Nurse education in practice》2011,11(4):273-277
In exploring innovative approaches to enhanced patient care, an acute care interprofessional clinical learning unit (IPCLU) was established in a medical unit of a large metropolitan hospital in Edmonton, Alberta, Canada. Part of a larger, community based, participatory mixed method research project, this acute-care model involved several post-secondary institution health science faculties, students, academics, and other post-secondary institutions partnering with the hospital to coordinate and enhance student clinical learning and improve patient care. Pre-implementation data collected from the existing acute-care unit patient-care team, students, and faculty identified areas of strength and enhancement opportunities in interprofessional education (IPE). Interested members of several professions from the patient-care units and students constituted the working group that developed the model. This paper discusses clinical IPE and its relevance in nursing education, explains the processes and mechanisms in creating the IPCLU, details the initiatives that were developed to facilitate enhanced interprofessional care, and offers considerations in advancing IPE in an acute-care setting. The work plan included initiatives that enhance interprofessional teaching and learning culture, increase awareness surrounding interprofessional teamwork and professional roles, promote interprofessional communication and decision-making strategies, and further develop clinical reflection. Insights regarding sustainability are offered. 相似文献
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Simon Podnar Stayko Sarafov Ivailo Tournev Gregor Omejec Janez Zidar 《Clinical neurophysiology》2017,128(4):505-511
Objective
To systematically study peripheral nerve morphology in patients with transthyretin (TTR) amyloidosis and TTR gene mutation carriers using high-resolution ultrasonography (US).Methods
In this prospective cross-sectional study we took a structured history, performed neurological examination, and measured peripheral nerve cross-sectional areas (CSAs) bilaterally at 28 standard locations using US. Demographic and US findings were compared to controls.Results
Peripheral nerve CSAs were significantly larger in 33 patients with familial amyloid polyneuropathy (FAP) compared to 50 controls, most dramatically at the common entrapment sites (median nerve at the wrist, ulnar nerve at the elbow), and in the proximal nerve segments (median nerve in the upper arm, sciatic nerve in the thigh). Findings in 21 asymptomatic TTR gene mutation carriers were less marked compared to controls, with CSAs being larger only in the median nerve in the upper arm. Nerve CSAs correlated with abnormalities on nerve conduction studies.Conclusion
Using US, we confirmed previous pathohistological and imaging reports in FAP of the most pronounced peripheral nerve thickening in the proximal limb segments.Significance
Similar to US findings in diabetic and vasculitic neuropathies these predominantly proximal locations of nerve thickening may be attributed to ischaemic nerve damage caused by poor perfusion in the watershed zones along proximal limb segments. 相似文献9.
D Sarafov B Trifonov A Ivanov E Kamberov Z Zaprjanov P Pavlov E Georgieva 《Toxicon》1992,30(2):187-195
Phosphatidylinositol-specific phospholipase C (PIPLC) from Bacillus thuringiensis (0.11 units per ml) inhibited growth of IC-Sofia carcinoma cell line in culture by 64%. The growth of transplanted carcinoma in hamsters was also inhibited by 29% at a dose of 4.9 units of PIPLC/kg animal/day. In addition, degeneration processes and a significant fibrosis of the tumour occurred. The functional, clinical, biochemical and haematological parameters studied were consistent with the established antitumour effect in vivo. 相似文献
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