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Browsing by Author "Patel, Purva"
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Item Patients Generally May Return to Driving 4 Weeks After Hip Arthroscopy and 6 Weeks After Knee Arthroscopy: A Systematic Review and Meta-analysis(Elsevier, 2021-10-06) Palma, Samantha; Giannoudis, Vasileios; Patel, Purva; Palan, Jeya; Guy, Stephen; Pandit, Hemant; Van Duren, Bernard; Medicine, School of MedicinePurpose: To consolidate the evidence from the available literature and undertake a meta-analysis to provide a reference for physicians to make evidence-based recommendations to their patients regarding the return to driving after hip or knee arthroscopic procedures. Methods: A systematic review was conducted using Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) guidelines. The OVID, Embase, and Cochrane databases were searched through June 2020 for articles containing keywords and/or MeSH (Medical Subject Headings) terms "hip arthroscopy" and "knee arthroscopy" in conjunction with "total brake response time" or "reaction time" in the context of automobile driving. A title review and full article review were performed to assess quality and select relevant articles. A meta-analysis of qualifying articles was undertaken. Results: Eight studies met the inclusion criteria for meta-analysis of brake reaction time (BRT). Meta-analysis of all knee BRTs showed times slower than or equal to baseline BRTs through 5 weeks, with a trend of improving BRTs from 6 to 10 weeks (weeks 8 and 10 were significant, P < .05). Among all hip BRTs, week 2 showed times slower than baseline BRTs, but after week 4, a trend toward faster BRTs was observed through week 8 (week 8 was significant, P < .05). Conclusions: BRTs met baseline or control values and continued to improve after 6 weeks after knee arthroscopy and after 4 weeks after hip arthroscopy. On the basis of these results, it would be safe to recommend a return to driving at 6 weeks after knee arthroscopic procedures and 4 weeks after hip arthroscopic procedures. Clinical relevance: These results can be used by surgeons to base their recommendations on to provide guidance for their patients on the resumption of driving. Although BRT is an important aspect of driving ability, there are additional factors that need to be taken into consideration when making these recommendations, including cessation of opioid analgesics, strength of the surgical limb, and range of motion.Item Reanalysis of a novel variant in the IGF1R gene in a family with variable prenatal and postnatal growth retardation and dysmorphic features: benefits and feasibility of IUSM-URDC (Undiagnosed Rare Disease Clinic) program(Cold Spring Harbor Laboratory Press, 2022-03-24) Jacobs, Annalise; Burns, Catherine; Patel, Purva; Treat, Kayla; Helm, Benjamin M.; Conboy, Erin; Vetrini, Francesco; Pediatrics, School of MedicineIGF1R-related disorders are associated with intrauterine growth restriction (IUGR), postnatal growth failure, short stature, microcephaly, developmental delay, and dysmorphic facial features. We report a patient who presented to medical genetics at 7 mo of age with a history of IUGR, poor feeding, mild developmental delays, microcephaly, and dysmorphic facial features. Whole-exome sequencing revealed a novel c.1464T > G p.(Cys488Trp) variant in the IGF1R gene, initially classified as a variation of uncertain significance (VUS). We enrolled the patient in the URDC (Undiagnosed Rare Disease Clinic) and performed additional studies including deep phenotyping and familial segregation analysis, which demonstrated that the patient's IGF1R VUS was present in phenotypically similar family members. Furthermore, biochemical testing revealed an elevated serum IGF-1 level consistent with abnormal IGF-1 receptor function. Workup resulted in the patient's variant being upgraded from a VUS to likely pathogenic. Our report expands the variant and phenotypic spectrum of IGF1R-related disorders and illustrates benefits and feasibility of reassessing a VUS beyond the initial molecular diagnosis by deep phenotyping, 3D modeling, additional biochemical testing, and familial segregation studies through the URDC, a multidisciplinary clinical program whose major goal is to end the diagnostic odyssey in patients with rare diseases.