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Dharmil C Doshi Purvi K Limdi Nilesh V Parekh Neepa R Gohil 《Indian journal of ophthalmology》2016,64(3):227-230
Oculodentodigital dysplasia is a rare, autosomal dominant disorder with high penetrance and variable expressivity, caused by mutations in the connexin 43 or gap junction protein alpha-1 gene. It has been diagnosed in fewer than 300 people worldwide with an incidence of around 1 in 10 million. It affects many parts of the body, particularly eyes (oculo), teeth (dento), and fingers and/or toes (digital). The common clinical features include facial dysmorphism with thin nose, microphthalmia, syndactyly, tooth anomalies such as enamel hypoplasia, anodontia, microdontia, early tooth loss and conductive deafness. Other less common features are abnormalities of the skin and its appendages, such as brittle nails, sparse hair, and neurological abnormalities. To prevent this syndrome from being overlooked, awareness of possible symptoms is necessary. Early recognition can prevent blindness, dental problems and learning disabilities. Described here is the case of a 21-year-old male who presented to the ophthalmology outpatient department with a complaint of bilateral progressive loss of vision since childhood. 相似文献
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Nita S. Nair Garvit Chitkara Rohini W. Hawaldar Vani Parmar Shalaka Joshi Purvi Thakkar Tanuja Shet Tabbassum Wadasadawala Rajendra A. Badwe 《Clinical breast cancer》2021,21(3):e228-e234
IntroductionSurgery is the primary treatment of phyllodes tumor of the breast, and margins are the most important risk factor associated with local recurrence. We conducted a retrospective audit of 433 patients treated at our center.Patients and MethodsWomen who presented with phyllodes tumors between 1999 and 2017 were included in the analysis. Data was collected from the hospital medical records, telephonic interviews, and electronic mail.ResultsOf the 433 women included in this study, 177 (40.9%) had benign phyllodes tumors, 84 (19.4%) were borderline, 131 (30.3%) were malignant, and 41 (9.5%) had sarcoma. A history of previous excision was noted in 154 (35.6%) patients, of which 104 presented with local recurrence. Of the total patients, 209 (48.3%) underwent breast conservation surgery; the median pT was 6 cm. At a median follow-up of 37.9 months, the 5-year disease-free survival (DFS) was 82.9%. On multivariate analysis, the factors that impacted DFS were histology (hazard ratio, 4.1; 95% confidence interval [CI], 1.5-10.9; P = .005) and history of previous excision biopsy (hazard ratio, 3.39; 95% CI, 1.76-6.52; P < .001). We analyzed 231 women who presented without any prior excision separately, wherein at a median follow-up of 44.1 months, the DFS was 92.1% (95% CI, 92.05%-92.15%). In addition, less recurrences were noted in this cohort (5.6% [13/231] in no-excision biopsy vs. 12.5% with surgery done prior to presentation to our institute).ConclusionA previous history of excision and the histologic subtype of phyllodes tumor are factors that have an impact on DFS, thus emphasizing the need for appropriate surgical planning and en bloc excision of the phyllodes at presentation. 相似文献
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Amorsolo L. Suguitan Jr. Michael P. Marino Purvi D. Desai Ruben O. Donis 《Virology》2009,395(2):280-288
A recombinant live attenuated influenza virus ΔH5N1 vaccine with a modified hemagglutinin (HA) and intact neuraminidase genes from A/Vietnam/1203/04 (H5N1) and six remaining genome segments from A/Ann Arbor/6/60 (H2N2) cold-adapted (AA ca) virus was previously shown to be attenuated in chickens, mice and ferrets. Evaluation of the recombinant H5N1 viruses in mice indicated that three independent factors contributed to the attenuation of the ΔH5N1 vaccine: the attenuating mutations specified by the AA ca loci had the greatest influence, followed by the deletion of the H5 HA multi-basic cleavage site (MBS), and the constellation effects of the AA genes acting in concert with the H5N1 glycoproteins. Restoring the MBS in the H5 HA of the vaccine virus improved its immunogenicity and efficacy, likely as a consequence of increased virus replication, indicating that removal of the MBS had a deleterious effect on the immunogenicity and efficacy of the ΔH5N1 vaccine in mice. 相似文献
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Bandukwala HS Clay BS Tong J Mody PD Cannon JL Shilling RA Verbeek JS Weinstock JV Solway J Sperling AI 《The Journal of experimental medicine》2007,204(8):1875-1889
Although inhibitory Fc gamma receptors have been demonstrated to promote mucosal tolerance, the role of activating Fc gamma receptors in modulating T helper type (Th)2-dependent inflammatory responses characteristic of asthma and allergies remains unclear. Here, we demonstrate that signaling via activating Fc gamma receptors in conjunction with Toll-like receptor 4 stimulation modulated cytokine production from bone marrow-derived dendritic cells (DCs) and augmented their ability to promote Th2 responses. Ligation of the low affinity receptor Fc gamma RIII was specifically required for the enhanced Th2 responses, as Fc gamma RIII(-/-) DCs failed to augment Th2-mediated airway inflammation in vivo or induce Th2 differentiation in vitro. Further, Fc gamma RIII(-/-) mice had impaired Th2 cytokine production and exhibited reduced airway inflammation, whereas no defect was found in Fc gamma RI(-/-) mice. The augmentation of Th2 immunity was regulated by interleukin 10 production from the DCs but was distinct and independent of the well-established role of Fc gamma RIII in augmenting antigen presentation. Thus, our studies reveal a novel and specific role for Fc gamma RIII signaling in the regulation of Th cell responses and suggest that in addition to immunoglobulin (Ig)E, antigen-specific IgG also contributes to the pathogenesis of Th2-mediated diseases such as asthma and allergies. 相似文献
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Rita Hamilton Steven Kirshblum Seema Sikka Librada Callender Monica Bennett Purvi Prajapati 《The journal of spinal cord medicine》2018,41(5):556-561
Objective: To determine if a self-report measure of S4-5 motor and sensory function in patients with chronic SCI accurately predicts sacral examination results.Design: Prospective, single-blinded self-report survey compared with sacral exam.Setting: Outpatient SCI clinic.Participants: 116 patients aged 18+ with chronic SCI > 6 months who have undergone sacral exam.Interventions: The survey included demographic/clinical and sacral function information such as light tough (LT), pinprick sensation (PP), deep anal pressure (DAP) and voluntary anal contraction (VAC). Survey results and sacral exam were compared and stratified by the patient’s American Spinal Cord Injury Association Impairment Scale (AIS) category.Outcome Measures: Sacral self-report survey, AIS examination.Results: Mean age was 41.3?±?14.4 years with majority male (69%) and Caucasian (71.6%). Overall, Positive Predictive Value (PPV) ranged between 48% (VAC) to 73% (DAP) and Negative Predictive Value (NPV) between 92% (VAC) to 100% (LT). AIS-A had NPV of 100% across all categories, and AIS-D had PPV of 100% across all categories.Conclusion: Patient report of sacral sparing can predict negative sensation in patients with AIS-A and predict positive sensation in persons with AIS-D. Overall, the self-report of sacral sparing of motor and sensory function is not predictive enough to rely on for accurate classification. 相似文献
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