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排序方式: 共有302条查询结果,搜索用时 46 毫秒
1.
The clinical syndrome of tuberculous (TB) meningitis leading to ischemic strokes is rarely seen today in immunocompetent adults native to North America. This entity is also notoriously difficult to diagnose because the presenting symptoms are often nonspecific. The authors describe a case of a man with TB meningitis which progressed to recurrent ischemic cerebral infarcts. 相似文献
2.
F I Jackson Z Lalani R J Swallow 《Journal l'Association canadienne des radiologistes》1988,39(4):288-289
We here report a patient with an adenolipoma of the breast. The radiological features appeared to be characteristic. On mammography the mass was surrounded by a radiolucent ring and on ultrasonography the lesion was revealed as a well-defined, hypoechoic, lobulated and solid mass. 相似文献
3.
Fisher JP Lalani Z Bossano CM Brey EM Demian N Johnston CM Dean D Jansen JA Wong ME Mikos AG 《Journal of biomedical materials research. Part A》2004,68(3):428-438
In this work we sought to understand the effect of biomaterial properties upon healing bone tissue. We hypothesized that a hydrophilic polymer gel implanted into a bone tissue defect would impede the healing process owing to the biomaterial's prevention of protein adsorption and thus cell adhesion. To test this hypothesis, healing bone was investigated within a rabbit incisor extraction socket, a subcritical size bone defect that resists significant soft tissue invasion by virtue of its conformity. After removal of the incisor teeth, one tooth socket was left as an empty control, one was filled with crosslinked polymer networks formed from the hydrophobic polymer poly(propylene fumarate) (PPF), and one was filled with a hydrogel formed from the hydrophilic oligomer oligo(poly(ethylene glycol) fumarate) (OPF). At five different times (4 days as well as 1, 2, 4, and 8 weeks), jaw bone specimens containing the tooth sockets were removed. We analyzed bone healing by histomorphometrical analysis of hematoxylin and eosin stained sections as well as immunohistochemically stained sections. The proposed hypothesis, that a hydrophilic material would hinder bone healing, was supported by the histomorphometrical results. In addition, the immunohistochemical results reflect molecular signaling indicative of the early invasion of platelets, the vascularization of wound-healing tissue, the differentiation of migrating progenitor cells, and the formation and remodeling of bone tissue. Finally, the results emphasize the need to consider biomaterial properties and their differing effects upon endogenous growth factors, and thus bone healing, during the development of tissue engineering devices. 相似文献
4.
Seema R. Lalani 《American journal of medical genetics. Part C, Seminars in medical genetics》2020,184(1):107-115
Congenital heart disease (CHD) is the common birth defect worldwide. Despite its recognized burden on public health, the etiology in the vast majority of individuals remains unknown. Chromosomal abnormality plays an important role, frequently observed as large cytogenetically visible rearrangement or small submicroscopic structural variation in the genome. Several genomic disorders are now recognized that are increasingly responsible for CHD with variable penetrance. Single gene disorders, epigenetic alterations, and environmental etiologies are also significant contributors. Our understanding of the genetic basis of CHD has increased exponentially with the escalating use of next generation sequencing to identify ever so small submicroscopic genomic imbalances at the level of coding exons in CHD. This review focuses on genomic disorders other than 22q11.2 deletion, that are major players in the etiology of human cardiac malformations. 相似文献
5.
J. A. Teodorczyk-Injeyan M. Cembrzynska-Nowak S. Lalani W. J. Peters G. B. Mills 《Journal of clinical immunology》1995,15(6):318-328
Thermal injury-associated specific immune deficiency occurs despite indicators of systemic activation of the lymphoid compartment. We investigated the possibility that postburn immune failure and T cell activation are causally related through activation-induced (apoptotic) cell death. The relationship between the cellular immune response and cell mortality was examined in cultures of peripheral blood mononuclear cells (PBMC) from 14 immunosuppressed patients with extensive burns (35–90% total body surface area). Impaired cellular immunity coincided with significantly reduced cell viability as ascertained by propidium iodide staining and dye reduction assays. Following stimulation with the mitogenic lectin, phytohemagglutinin (PHA), the majority of DNA in patient cultures was fragmented, suggesting the occurrence of apoptotic cell death. Even without stimulation a portion of patient cells was apoptotic as indicated by oligonucleosomal bands on agarose gel electrophoresis. Exogenous interleukin-2 or phorbol ester markedly reduced constitutive as well as PHAinduced DNA fragmentation.In situ demonstration of DNA strand breaks in freshly isolated patient PBMC, by a TdT-based labeling technique, confirmed that a larger fraction (up to 60%) of circulating lymphocytes was undergoing apoptosis on the periphery. These novel observations suggest that apoptosis may play a major role in thermal injury-related cellular immunodeficiency. 相似文献
6.
Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity 总被引:4,自引:0,他引:4
Blons H Feldmann D Duval V Messaz O Denoyelle F Loundon N Sergout-Allaoui A Houang M Duriez F Lacombe D Delobel B Leman J Catros H Journel H Drouin-Garraud V Obstoy MF Toutain A Oden S Toublanc JE Couderc R Petit C Garabédian EN Marlin S 《Clinical genetics》2004,66(4):333-340
Sensorineural hearing defect and goiter are common features of Pendred's syndrome. The clinical diagnosis of Pendred's syndrome remains difficult because of the lack of sensitivity and specificity of the thyroid signs. The identification of PDS as the causative gene allowed molecular screening and enabled a re-evaluation of the syndrome to identify potential diagnostic characteristics. This report presents the clinical and genotypic findings of 30 French families, for whom a diagnosis of Pendred's syndrome had been made. Twenty-seven families had at least one mutated allele. Twenty-eight different mutations were identified, 11 of which had never been previously reported. The main clinical characteristics were: early hearing loss, fluctuation in terms of during deafness evolution, and the presence of an enlarged vestibular aqueduct. 相似文献
7.
Zeynep H. Coban‐Akdemir Wu‐Lin Charng Mahshid Azamian Ingrid S. Paine Jaya Punetha Christopher M. Grochowski Tomasz Gambin Santiago O. Valdes Bryan Cannon Gladys Zapata Patricia P. Hernandez Shalini Jhangiani Harsha Doddapaneni Jianhong Hu Fatima Boricha Donna M. Muzny Eric Boerwinkle Yaping Yang Richard A. Gibbs Jennifer E. Posey Xander H. T. Wehrens John W. Belmont Jeffrey J. Kim Christina Y. Miyake James R. Lupski Seema R. Lalani 《American journal of medical genetics. Part A》2020,182(6):1387-1399
8.
9.
Alex H.S. Harris Alfred C. Kuo Thomas R. Bowe Luisa Manfredi Narlina F. Lalani Nicholas J. Giori 《The Journal of arthroplasty》2021,36(1):112-117.e6
BackgroundApproximately 15%-20% of total knee arthroplasty (TKA) patients do not experience clinically meaningful improvements. We sought to compare the accuracy and parsimony of several machine learning strategies for developing predictive models of failing to experience minimal clinically important differences in patient-reported outcome measures (PROMs) 1 year after TKA.MethodsPatients (N = 587) in 3 large Veteran Health Administration facilities completed PROMs before and 1 year after TKA (92% follow-up). Preoperative PROMs and electronic health record data were used to develop and validate models to predict failing to experience at least a minimal clinically important difference in Knee Injury and Osteoarthritis Outcome Score (KOOS) Total, KOOS JR, and KOOS subscales (Pain, Symptoms, Activities of Daily Living, Quality of Life, and recreation). Several machine learning strategies were used for model development. Ten-fold cross-validation and bootstrapping were used to produce measures of overall accuracy (C-statistic, Brier Score). The sensitivity and specificity of various predicted probability cut-points were examined.ResultsThe most accurate models produced were for the Activities of Daily Living, Pain, Symptoms, and Quality of Life subscales of the KOOS (C-statistics 0.76, 0.72, 0.72, and 0.71, respectively). Strategies varied substantially in terms of the numbers of inputs required to achieve similar accuracy, with none being superior for all outcomes.ConclusionModels produced in this project provide estimates of patient-specific improvements in major outcomes 1 year after TKA. Integrating these models into clinical decision support, informed consent and shared decision making could improve patient selection, education, and satisfaction.Level of EvidenceLevel III, diagnostic study. 相似文献
10.
Fordyce AM Lalani Z Songra AK Hildreth AJ Carton AT Hawkesford JE 《The British journal of oral & maxillofacial surgery》1999,37(1):52-57
We undertook a retrospective study of all isolated mandibular fractures which had required active management over a 1-year period at the Maxillofacial Unit at Newcastle General Hospital. Patients with single or multiple fractures of the mandible were included in the study, if there were other simultaneous fractures of the facial skeleton, those patients were excluded. All case notes and radiographs were reviewed by a single operator. A total of 202 cases of fractured mandible were identified of which 115 fulfilled the selection criteria of: isolated fracture, no previous facial fracture, treatment by open reduction and internal fixation using titanium osteosynthesis miniplates, and all case notes and radiographs available to study. Sixty-six patients had their fractures reduced manually to obtain anatomical reduction without the use of peroperative intermaxillary fixation (IMF). Forty-nine were treated conventionally using peroperative IMF. The two groups were broadly similar in severity and type of fracture, and the method of reduction seemed to be decided by the operator according to their preference. IMF was not used routinely postoperatively. Overall there were significantly fewer occlusal discrepancies in the early postoperative period in those patients treated by anatomical reduction (6/66 compared with 16/49, P = 0.002) but there was no difference in the final outcome of the occlusion between the two methods of reduction. Avoidance of the use of peroperative IMF is more economical in time and cost, is safer for the operator, and more comfortable for the patient. As this technique produces comparable results in the long term with fewer early complications, we conclude that IMF is not usually necessary to reduce fractures confined to the mandibular bone. 相似文献