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排序方式: 共有696条查询结果,搜索用时 15 毫秒
21.
Gabriela E Jones Pia Ostergaard Anthony T Moore Fiona C Connell Denise Williams Oliver Quarrell Angela F Brady Isabel Spier Filiz Hazan Oana Moldovan Dagmar Wieczorek Barbara Mikat Florence Petit Christine Coubes Robert A Saul Glen Brice Kristiana Gordon Steve Jeffery Peter S Mortimer Pradeep C Vasudevan Sahar Mansour 《European journal of human genetics : EJHG》2014,22(7):881-887
Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR) (MIM No.152950) is a rare autosomal dominant condition for which a causative gene has recently been identified. Mutations in the kinesin family member 11 (KIF11) gene have now been described in 16 families worldwide. This is a review of the condition based on the clinical features of 37 individuals from 22 families. This report includes nine previously unreported families and additional information for some of those reported previously. The condition arose de novo in 8/20 families (40%). The parental results were not available for two probands. The mutations were varied and include missense, nonsense, frameshift, and splice site and are distributed evenly throughout the KIF11 gene. In our cohort, 86% had microcephaly, 78% had an ocular abnormality consistent with the diagnosis, 46% had lymphoedema, 73% had mild-moderate learning difficulties, 8% had epilepsy, and 8% had a cardiac anomaly. We identified three individuals with KIF11 mutations but no clinical features of MCLMR demonstrating reduced penetrance. The variable expression of the phenotype and the presence of mildly affected individuals indicates that the prevalence may be higher than expected, and we would therefore recommend a low threshold for genetic testing. 相似文献
22.
Vasudevan Karthikeyan Naveen Gopi Chander Kuttae Viswanathan Anitha 《The Journal of prosthetic dentistry》2019,121(3):384-386
This article describes a method for managing xerostomia in edentulous patients with a newly developed salivary sensor. A micropressure sensor unit with a capsule to hold artificial salivary substitute was built into the dental prosthesis. This sensor prosthesis can help patients overcome mouth dryness, improves patient comfort, and aids in retention of the prosthesis. 相似文献
23.
Objective
The purpose of this study is to understand the epidemiology, clinical features, behavior, and the prognostic factors that influence the outcome of intracranial meningiomas in children.Methods
Thirty-one patients with age less than 18 years who underwent surgery for intracranial meningiomas during the period of at 1988–2012 at Voluntary Health Services Hospital, Chennai, India were studied. These formed 3.7 % of the total 831 cases of intracranial meningiomas operated at the institute.Results
The study group included 22 (71 %) males and 9 (29 %) females. The mean age of presentation was 15 years, with the youngest being 9 months old. Two (6 %) had evidence of neurofibromatosis type 2 (NF2). The most common symptoms at presentation were seizures in 11 (35.5 %), weakness of limbs in 11 (35.5 %), and raised intracranial pressure in 10 (32 %). Convexity meningiomas were seen in 16 (51 %) and skull base in 15(49 %). Multiple meningiomas was seen in two (6 %) of the patients and intraventricular location was found in one patient (3 %). Two (6 %) had evidence of NF2. Gross total excision was achieved in 26 (83 %) and subtotal excision in 5 (17 %). WHO grade I was found in 20 (64 %) and higher grade was seen in 11 (36 %). The mean follow-up was 46.2 months. Recurrence was seen in 20 patients (64 %). In patients with higher grade or with recurrence resurgery and radiotherapy was given. Three (9 %) had multiple recurrences. On a mean follow-up of 46.2 months, 25 patients (81 %) were neurologically intact, 5 (16 %) were having moderated disability, and 1 (3 %) patient died.Conclusions
Childhood meningiomas are uncommon lesions with a slight male predominance. They can have a varied clinical presentation. Higher grade is found more frequently compared with adults. Gross total resection is the goal and in higher grade meningiomas radiotherapy helps as a good adjuvant. Though the rate of recurrence is high, resurgery and radiotherapy gives a good outcome. 相似文献24.
Lavu Vamsi Gutknecht Norbert Vasudevan Amrutha S.K Balaji Hilgers Ralf-Dieter Franzen Rene 《Lasers in medical science》2022,37(3):1625-1634
Lasers in Medical Science - The objective of this prospective randomized controlled single-center clinical trial was to prove the efficacy of adjunctive photobiomodulation in improving selected... 相似文献
25.
Ashok Basur Chandrappa Ritu Batth Srikanth Vasudevan Anantheswar Yellambalase N. Dinkar Sreekumar 《Indian Journal of Plastic Surgery》2020,53(3):377
Background Indocyanine green (ICG) lymphangiography is being increasingly employed to assess the severity of lymphedema, locate the areas of patent linear lymphatics and dermal backflow and plan treatment. This study suggests a novel method of reporting ICG findings in extremities to enable easy understanding among surgeons and physiotherapists and avoid repeat testing when a patient visits a disparate lymphedema center or clinician. Methods A reporting protocol was developed in the lymphedema clinic of the plastic surgery department, and patients were asked to bring along the report in every subsequent review. The ICG findings were recorded on the fluorescence imaging system as well. The report was prepared by one and analyzed by two different clinicians without repeating the test on 10 consecutive patients. Results The interrater reliability of findings in the report was found to be 98.7% among the three clinicians. Conclusion The reporting system was found to be illustratable and reproducible 相似文献
26.
27.
28.
Joseph Driver Samantha E Hoffman Sherwin Tavakol Eleanor Woodward Eduardo A Maury Varun Bhave Noah F Greenwald Farshad Nassiri Kenneth Aldape Gelareh Zadeh Abrar Choudhury Harish N Vasudevan Stephen T Magill David R Raleigh Malak Abedalthagafi Ayal A Aizer Brian M Alexander Keith L Ligon David A Reardon Patrick Y Wen Ossama Al-Mefty Azra H Ligon Adrian M Dubuc Rameen Beroukhim Elizabeth B Claus Ian F Dunn Sandro Santagata Wenya Linda Bi 《Neuro-oncology》2022,24(5):796
BackgroundMeningiomas are the most common primary intracranial tumor in adults. Clinical care is currently guided by the World Health Organization (WHO) grade assigned to meningiomas, a 3-tiered grading system based on histopathology features, as well as extent of surgical resection. Clinical behavior, however, often fails to conform to the WHO grade. Additional prognostic information is needed to optimize patient management.MethodsWe evaluated whether chromosomal copy-number data improved prediction of time-to-recurrence for patients with meningioma who were treated with surgery, relative to the WHO schema. The models were developed using Cox proportional hazards, random survival forest, and gradient boosting in a discovery cohort of 527 meningioma patients and validated in 2 independent cohorts of 172 meningioma patients characterized by orthogonal genomic platforms.ResultsWe developed a 3-tiered grading scheme (Integrated Grades 1-3), which incorporated mitotic count and loss of chromosome 1p, 3p, 4, 6, 10, 14q, 18, 19, or CDKN2A. 32% of meningiomas reclassified to either a lower-risk or higher-risk Integrated Grade compared to their assigned WHO grade. The Integrated Grade more accurately identified meningioma patients at risk for recurrence, relative to the WHO grade, as determined by time-dependent area under the curve, average precision, and the Brier score.ConclusionWe propose a molecularly integrated grading scheme for meningiomas that significantly improves upon the current WHO grading system in prediction of progression-free survival. This framework can be broadly adopted by clinicians with relative ease using widely available genomic technologies and presents an advance in the care of meningioma patients. 相似文献
29.
Vasudevan S.; Laconi E.; Rao P.M.; Rajalakshmi S.; Sarma D.S.R. 《Carcinogenesis》1994,15(11):2497-2500
Feeding excess orotic acid (OA) In the diet promotes the carcinogenicprocess in different organs Including the liver. A number ofmetabolic and genetic disorders are associated with Increasedsynthesis of endogenous OA and some of these disorders appearto pose an Increased risk of liver cancer development. Thisstudy therefore examines whether excess OA of endogenous originalso exerts a promoting effect on hepatocarcinogenesis in themouse and the rat. Increased endogenous synthesis of OA wasachieved by (i) feeding a diet deficient in arginine (AD) and(ii) feedIng excess dietary carbamylaspartate (CA), a precursorfor the synthesis of OA. A single dose of diethylnitrosamine(DENA) was given i.p. to male Fischer 344 rats (200 mg/kg) orto male DBA/2 mice (90 mg/kg). One week later they were placedon either AD diet or the same diet supplemented with 1.3% arginine(AS) for a total of weeks. Two-thirds partial hepatectomy (PH)was performed at the end of the second week. All animals werethen transferred to a control semisynthetic basal diet for atotal of 20 weeks before they were killed. The results indicatedthat AD diet increased the incidence of hepatic nodules in bothrats (percentage area occupied by nodules was 4.7 ± 0.4in the AD group compared to a control value of 0.7 ±0.5) and mice (4/10 mice had nodules >5 mm diameter in theAD group while none in the AS group had such large nodules).In another experiment male Fischer 344 rats similarly initiatedwIth DENA were exposed to either basal diet or basal diet containing2% CA for 4 weeks coupled with PH performed at the end of thesecond week. This regimen was followed by 20 weeks of feedingbasal diet to both groups. Rats given CA developed larger hepatlcfoci and nodules (0.84 ± 0.56 mm3) compared to the controlgroup, which was fed basal diet throughout the experiment (0.07± 0.03 mm3) Further, both AD diet and dietary CA, likedietary OA, induced an increase In hepatic uridine nucleotides.Taken together, these results suggest that Increased levelsof endogenously synthesized OA, like exo genously supplied excessOA, can induce an Imbalance in hepatic nucleotide pools andcan exert a promoting effect on hepatocarcinogenesis. 相似文献
30.
Indomethacin-induced mitochondrial dysfunction and oxidative stress in villus enterocytes 总被引:6,自引:0,他引:6
Nonsteroidal anti-inflammatory drugs (NSAIDs) are known to cause small intestinal damage but the pathogenesis of this toxicity is not well established. Intestinal epithelial cells are thought to be affected by these drugs in the course of their absorption. These cells are of different types, viz. villus, middle and crypt cells. There is little information on which of these cells, if any, are particularly vulnerable to the effects of NSAIDs. This paper aimed to study the effects of indomethacin, an NSAID commonly used in toxicity studies, on different populations of enterocytes. Effects of the drug were assessed in terms of oxidative damage, mitotic activity, mitochondrial function and lipid composition in enterocytes isolated from the small intestine of rats that had been orally administered indomethacin. In addition, the effects of arginine and zinc in protecting against such changes were assessed. Cell viability, tetrazolium dye (MTT) reduction and oxygen uptake were significantly reduced in villus tip cells from rats dosed with the drug. Thymidine uptake was higher in the crypt cell fraction from these rats. Similarly, products of lipid peroxidation were elevated in the villus tip cells with a corresponding decrease in the level of the anti-oxidant, alpha-tocopherol. In isolated mitochondrial preparations from various enterocyte fractions, significant functional impairment and altered lipid composition were seen mainly in mitochondria from villus cells. Arginine and zinc pre-treatment were found to protect against these effects. These results suggest for the first time that the villus tip cells are more vulnerable to the damaging effects of indomethacin and that oxidative stress is possibly involved in this damage. 相似文献