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101.
William B. Martens BA Sally Dunaway PT DPT Amy Pasternak PT DPT Susan O Riley PT DPT Janet Quigley PT DPT Shree Pandya MS PT Darryl C De Vivo MD Petra Kaufmann MD MSc Claudia A. Chiriboga MD MPH Richard S. Finkel MD Gihan I. Tennekoon MBBS Basil T. Darras MD Marika Pane MD Eugenio Mercuri MD PhD Michael P. Mcdermott PhD for the Pediatric Neuromuscular Clinical Research Network Muscle Study Group SMA Europe 《Muscle & nerve》2015,51(6):942-944
Introduction: With clinical trials underway, our objective was to construct a composite score of global function that could discriminate among people with spinal muscular atrophy (SMA). Methods: Data were collected from 126 participants with SMA types 2 and 3. Scores from the Hammersmith Functional Motor Scale—Expanded and Upper Limb Module were expressed as a percentage of the maximum score and 6‐minute walk test as percent of predicted normal distance. A principal component analysis was performed on the correlation matrix for the 3 percentage scores. Results: The first principal component yielded a composite score with approximately equal weighting of the 3 components and accounted for 82% of the total variability. The SMA functional composite score, an unweighted average of the 3 individual percentage scores, correlated almost perfectly with the first principal component. Conclusions: This combination of measures broadens the spectrum of ability that can be quantified in type 2 and 3 SMA patients. Muscle Nerve 52 : 942–947, 2015 相似文献
102.
Sumit Kar Krishnan Preetha Nidhi Yadav Bhushan Madke Nitin Gangane 《Annals of Indian Academy of Neurology》2015,18(1):90-92
Neurofibromatosis type 1 is an autosomal dominant disorder which primarily affects the growth and development of neural cell tissues. It presents as multiple tumor-like growths over the skin that arises from the nerves and is associated with other abnormalities like pigmentation over the skin and bone deformities. Becker''s nevus or hairy pigmented epidermal nevus is a benign cutaneous hamartoma which is characterized by hyperpigmented macule with hypertrichosis. It is rarely associated with neurofibromatosis. We report a 22-years-old male with coexistent Becker''s nevus and type 1 neurofibromatosis. 相似文献
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104.
Stephanie Vernier Angela Chiu Joseph Schober Theresa Weber Phuong Nguyen Mark Luer Timothy McPherson Paul E. Wanda Connie A. Marshall Nidhi Rohatgi Michael L. McDaniel Andrew S. Greenberg Guim Kwon 《Islets》2012,4(6):379-392
The aim of this study was to assess multifactorial β-cell responses to metabolic perturbations in primary rat and human islets. Treatment of dispersed rat islet cells with elevated glucose and free fatty acids (FFAs, oleate:palmitate = 1:1 v/v) resulted in increases in the size and the number of lipid droplets in β-cells in a time- and concentration-dependent manner. Glucose and FFAs synergistically stimulated the nutrient sensor mammalian target of rapamycin complex 1 (mTORC1). A potent mTORC1 inhibitor, rapamycin (25 nM), significantly reduced triglyceride accumulation in rat islets. Importantly, lipid droplets accumulated only in β-cells but not in α-cells in an mTORC1-dependent manner. Nutrient activation of mTORC1 upregulated the expression of adipose differentiation related protein (ADRP), known to stabilize lipid droplets. Rat islet size and new DNA synthesis also increased under nutrient overload. Insulin secretion into the culture medium increased steadily over a 4-day period without any significant difference between glucose (10 mM) alone and the combination of glucose (10 mM) and FFAs (240 μM). Insulin content and insulin biosynthesis, however, were significantly reduced under the combination of nutrients compared with glucose alone. Elevated nutrients also stimulated lipid droplet formation in human islets in an mTORC1-dependent manner. Unlike rat islets, however, human islets did not increase in size under nutrient overload despite a normal response to nutrients in releasing insulin. The different responses of islet cell growth under nutrient overload appear to impact insulin biosynthesis and storage differently in rat and human islets. 相似文献
105.
Mansour AM Arevalo JF Fardeau C Hrisomalos EN Chan WM Lai TY Ziemssen F Ness T Sibai AM Mackensen F Wolf A Hrisomalos N Heiligenhaus A Spital G Jo Y Gomi F Ikuno Y Akesbi J LeHoang P Adan A Mahendradas P Khairallah M Guthoff R Ghandour B Küçükerdönmez C Kurup SK 《Canadian journal of ophthalmology. Journal canadien d'ophtalmologie》2012,47(3):269-274
ObjectiveTo assess the 3-year visual outcome of intravitreal bevacizumab in inflammatory ocular neovascularization.DesignExperimental study.MethodsRetrospective multicenter consecutive case series in 81 patients with inflammatory ocular neovascularization refractory to standard therapy and treated with intravitreal bevacizumab. The outcome measures included improvement of best corrected visual acuity expressed as logarithm of minimum angle of resolution (logMAR) and paired comparison decrease in central foveal thickness by optical coherence tomography.ResultsMean best corrected visual acuity improved from baseline 0.699 (6/30 or 20/101) (SD 0.434) to 0.426 (6/16 or 20/53) (SD 0.428) (n = 81; p < 0.001), a gain of 2.7 lines (median 3 injections; 81 eyes; 81 patients). Paired comparisons revealed significant central foveal flattening at 3 years of 97.9 μm (n = 51; p < 0.001). In a subgroup analysis, visual improvement was significant for ocular histoplasmosis (p = 0.026); multifocal choroiditis (p = 0.05); serpiginous choroiditis (p = 0.028); ocular toxoplasmosis (p = 0.042); and punctate inner choroidopathy (p = 0.015). In a subgroup analysis, foveal flattening was significant for ocular histoplasmosis (p = 0.004); multifocal choroiditis (p = 0.007); serpiginous choroiditis (p = 0.011); and punctate inner choroidopathy (p = 0.001). Of the group, 5 eyes developed submacular fibrosis, 1 eye retinal pigment epithelial tear, and 1 eye macular ischemia in the context of vasculitis.ConclusionAt 3 years, intravitreal bevacizumab sustained significant visual improvement of 2.7 lines and significant foveal flattening of 98 μm in a wide variety of inflammatory ocular diseases without major complications after a median of 3 injections. 相似文献
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Arvind K Sharma Andrew E Ajani Nidhi Garg Afework GebreEyesus Jerry Varghese Ellen Pinnow Ron Waksman Augusto D Pichard Joseph Lindsay 《Catheterization and cardiovascular interventions》2003,59(2):172-175
In the modern era, radial artery graft is being used with increasing frequency to replace saphenous vein as a conduit for coronary artery bypass surgery. Several reports have shown encouraging early results of radial grafts compared to saphenous grafts. Despite these advantages, radial artery graft failure requiring revascularization does occur. We report on the clinical, angiographic, and technical characteristics and the follow-up results of 22 patients who underwent percutaneous intervention of radial grafts. 相似文献
108.
Woodhouse LJ Gupta N Bhasin M Singh AB Ross R Phillips J Bhasin S 《The Journal of clinical endocrinology and metabolism》2004,89(2):718-726
Testosterone supplementation reduces total body adipose tissue (AT), but we do not know whether the effects are uniformly distributed throughout the body or are region specific, or whether they are dose related. We determined the effects of graded doses of testosterone on regional AT distribution in 54 healthy men (18-35 yr) in a 20-wk, randomized, double-blind study of combined treatment with GnRH agonist plus one of five doses (25, 50, 125, 300, or 600 mg/wk) of testosterone enanthate (TE). Total body, appendicular, and trunk AT and lean body mass were measured by dual-energy x-ray absorptiometry, and sc, intermuscular, and intraabdominal AT of the thigh and abdomen were measured by magnetic resonance imaging. Treatment regimens resulted in serum nadir testosterone concentrations ranging from subphysiological to supraphysiological levels. Dose-dependent changes in AT mass were negatively correlated with TE dose at all sites and were equally distributed between the trunk and appendices. The lowest dose was associated with gains in sc, intermuscular, and intraabdominal AT, with the greatest percent increase occurring in the sc stores. At the three highest TE doses, thigh intermuscular AT volume was significantly reduced, with a greater percent loss in intermuscular than sc depots, whereas intraabdominal AT stores remained unchanged. In conclusion, changes in testosterone concentrations in young men are associated with dose-dependent and region-specific changes in AT and lean body mass in the appendices and trunk. Lowering testosterone concentrations below baseline increases sc and deep AT stores in the appendices and abdomen, with a greater percent increase in sc depots. Conversely, elevating testosterone concentrations above baseline induces a greater loss of AT from the smaller, deeper intermuscular stores of the thigh. 相似文献
109.
Bhanwar Singh Dhandhu Gaurav Kumar Gupta Shashank J. Wanjari Nidhi Sharma Sandeep Nijhawan 《Indian journal of gastroenterology》2018,37(2):98-102
Background
Celiac disease (CeD) requires a biopsy from the small intestine to confirm the diagnosis. Conventionally, duodenal bulb (D1) was avoided as a biopsy site due to histological confounding factors at this site. However, sometimes, the bulb mucosa is the only affected site. The aim of the present study was to assess changes in duodenal bulb histology and compare it to distal duodenal histology and to analyze whether the addition of duodenal bulb biopsy increases the diagnostic yield of the CeD.Methods
It was a prospective study comprising of 98 patients of CeD who were symptomatic clinically and had positive anti tissue transglutaminase (tTG) antibody. Endoscopically four mucosal biopsies were taken, two each from the bulb and distal duodenum, and morphology was graded as per modified Marsh grade.Results
Iron deficiency anemia (40%) was a most common clinical presentation followed by chronic diarrhea (30%). Sixty patients showed same Marsh grade and 38 showed different Marsh grade at both sites. Patients who were showing the difference in the Marsh grade at the two biopsy sites, in place of; descending duodenum showed higher grade in 24 patients while higher mucosal atrophy was documented in the bulb in 14 patients. No patient of CeD had isolated D1 involvement. In eight patients, the correct diagnosis of CeD could be made only because of bulb biopsy.Conclusion
Majority of the patients had no classical symptoms. Different Marsh grade at the two biopsy sites was documented demonstrating the patchy distribution of CeD. Combining biopsy from both bulb and descending duodenum maximizes the diagnostic yield of the CeD.110.
Seema Dengra Vaibhav Tiwari Nidhi Sharma 《Journal of maxillofacial and oral surgery》2016,15(1):131-132
Heister introduced a mouth gag of incentric pattern which is still being used. Heister jaw opener has narrow blades which rest on the occlusal surface of molar teeth. The force of mouth gag is not equally distributed on all the teeth, therefore there is great risk of tooth avulsion in periodontally compromised dentition and fracture of tooth while using standard Heister appliance. To overcome this modification of Heister mouth gag is done. 相似文献