18 results on '"Skolnick G"'
Search Results
2. An E23K single nucleotide polymorphism in the islet ATP-sensitive potassium channel gene (Kir6.2) contributes as much to the risk of Type II diabetes in Caucasians as the PPARγ Pro12Ala variant
- Author
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Love-Gregory, L., Wasson, J., Lin, J., Skolnick, G., Suarez, B., and Permutt, M.
- Published
- 2003
- Full Text
- View/download PDF
3. Use of DNA pools to assess allele frequencies of single nucleotide polymorphism (SNPs) at a type 2 diabetes mellitus (T2DM) susceptibility locus
- Author
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Permutt, M.A., Wasson, J.C., Donelan, S., Skolnick, G., Lin, J., and Suarez, B.K.
- Subjects
Genetic polymorphisms -- Research ,Type 2 diabetes -- Genetic aspects ,Genetic disorders -- Research ,Biological sciences - Published
- 2001
4. The Medial Antebrachial Cutaneous Nerve Is a Low-Morbidity Alternative to the Standard Sural Nerve Autograft.
- Author
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Pripotnev S, Pinni SL, Zhou S, Skolnick G, and Mackinnon SE
- Abstract
Background: Nerve interposition grafting is an important technique in nerve reconstructive surgery that is used when a primary repair is not feasible without significant tension. This study sought to evaluate the long-term morbidity of the medial antebrachial cutaneous (MABC) nerve as an alternative donor nerve in comparison with sural nerve harvest., Methods: A single surgeon and institution retrospective chart review was performed to identify all patients who underwent nerve autografting using the sural and MABC as donor nerves between January 1, 2000 and December 31, 2019. Surveys assessed overall patient satisfaction with surgery, as well as donor and recipient site morbidity, satisfaction, pain, numbness, and cold sensitivity., Results: Of the 73 patients contacted, 54 agreed to participate, and 43 of 73 (58.9%) ultimately completed the survey: 28 MABC (65.1%) and 15 sural (34.9%). There were no significant differences between the sural and MABC groups in overall satisfaction with surgery, donor and recipient site satisfaction, pain, cold sensitivity, and effect on quality of life. Even though 66.7% of sural donor sites and 75% of MABC donor sites had residual numbness, the effect this had on quality of life was very low (2 and 3, respectively)., Conclusion: The MABC is a safe alternative to the traditional sural nerve autograft. A small subset of patients undergoing nerve autograft harvest will experience long-term morbidity in the form of pain. Conversely, the more common presence of numbness is not reported as bothersome., Competing Interests: Declaration of Conflicting InterestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.
- Published
- 2024
- Full Text
- View/download PDF
5. The Insurance Landscape for Implant- and Autologous-based Breast Reconstruction in the United States.
- Author
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Boyd LC, Greenfield JA, Ainapurapu SS, Skladman R, Skolnick G, Sundaramoorthi D, and Sacks JM
- Abstract
Insurance coverage of postmastectomy breast reconstruction is mandated in America, regardless of reconstructive modality. Despite enhanced patient-reported outcomes, autologous reconstruction is utilized less than nonautologous reconstruction nationally. Lower reimbursement from Medicare and Medicaid may disincentivize autologous-based reconstruction. This study examines the impact of insurance and sociodemographic factors on breast reconstruction., Methods: A retrospective analysis of the Healthcare Cost and Utilization Project National Inpatient Sample Database from 2014 to 2017 was performed. International Classification of Diseases Clinical Modification and Procedure Coding System codes were used to identify patients for inclusion. De-identified sociodemographic and insurance data were analyzed using χ
2 , least absolute shrinkage and selection operator regression analysis, and classification trees., Results: In total, 31,468 patients were identified for analysis and stratified by reconstructive modality, sociodemographics, insurance, and hospital characteristics. Most patients underwent nonautologous reconstruction (63.2%). Deep inferior epigastric perforator flaps were the most common autologous modality (46.7%). Least absolute shrinkage and selection operator regression identified Black race, urban-teaching hospitals, nonsmoking status, and obesity to be associated with autologous reconstruction. Publicly-insured patients were less likely to undergo autologous reconstruction than privately-insured patients. Within autologous reconstruction, publicly-insured patients were 1.97 ( P < 0.001) times as likely to obtain pedicled flaps than free flaps. Black patients were 33% ( P < 0.001) less likely to obtain free flaps than White patients., Conclusions: Breast reconstruction is influenced by insurance, hospital demographics, and sociodemographic factors. Action to mitigate this health disparity should be undertaken so that surgical decision-making is solely dependent upon medical and anatomic factors., (Copyright © 2023 The Authors. Published by Wolters Kluwer Health, Inc. on behalf of The American Society of Plastic Surgeons.)- Published
- 2023
- Full Text
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6. Surgical, Speech, and Audiologic Outcomes in Patients With Orofacial Cleft and Van der Woude Syndrome.
- Author
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Kitchin S, Grames L, Naidoo SD, Skolnick G, Schoenborn A, Snyder-Warwick A, and Patel K
- Subjects
- Adolescent, Adult, Child, Female, Humans, Lip surgery, Male, Retrospective Studies, Treatment Outcome, Young Adult, Abnormalities, Multiple surgery, Cleft Lip surgery, Cleft Palate surgery, Cysts surgery, Lip abnormalities, Speech
- Abstract
Objective: The purpose of this study was to investigate the surgical, speech, and audiologic outcomes in patients with Van der Woude syndrome (VWS) and compare them to patients with nonsyndromic cleft palate with or without cleft lip (NS-CP ± L) treated at the same institution., Design: Retrospective chart review., Setting: A single children's hospital at a major academic institution., Patients: The records of 18 patients with VWS who had been treated at a single institution from 1989 to 2017 have been retrospectively examined. Thirty-eight patients with NS-CP ± L who were also treated at the same institution during that same time frame were selected to closely match sex and date of birth., Main Outcome Measures: Demographic, clinical, surgical, and speech pathology data were gathered from medical charts., Result: By age 4, 88% of subjects with VWS and 76% of subjects with NS-CP ± L (P = 0.732) had been, or were actively involved in, speech therapy. By age 10, 100% of remaining subjects with VWS and 58% of remaining subjects with NS-CP ± L remained involved in speech therapy (P = 0.027).About 33% of patients with VWS and 16% of patients with NS-CP ± L had a secondary procedure for velopharyngeal dysfunction (VPD) (P = 0.171)., Conclusion: The VWS group had more than twice the rate of secondary procedures for VPD repair, and a higher rate of continuing involvement for speech therapy at age 10. No differences were found in the rate of participation in speech therapy at or by age 4.
- Published
- 2019
- Full Text
- View/download PDF
7. A 3-Dimensional-Printed Short-Segment Template Prototype for Mandibular Fracture Repair.
- Author
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Sinha P, Skolnick G, Patel KB, Branham GH, and Chi JJ
- Subjects
- Bone Plates, Cost Control, Female, Fracture Fixation, Internal economics, Humans, Male, Mandibular Fractures diagnostic imaging, Operative Time, Printing, Three-Dimensional economics, Plastic Surgery Procedures economics, Tomography, X-Ray Computed economics, Fracture Fixation, Internal methods, Mandibular Fractures surgery, Patient-Specific Modeling economics, Printing, Three-Dimensional instrumentation, Plastic Surgery Procedures methods, Tomography, X-Ray Computed methods
- Abstract
Importance: After reduction of complex mandibular fractures, contouring of the fracture plates to fixate the reduced mandibular segments can be time-consuming., Objective: To explore the potential application of a 3-dimensional (3-D)-printed short-segment mandibular template in the management of complex mandibular fractures., Design, Setting, and Participants: A feasibility study was performed at a tertiary academic center using maxillofacial computed tomography data of 3 patients with comminuted mandibular fractures who required preoperative planning with a perfected complete mandible model., Interventions: Thresholding, segmentation, and realignment of the fractured mandible were performed based on computed tomography data. Each reduced mandible design was divided to create 3-D templates for 6 fracture sites: right and left angle, body, and symphyseal/parasymphyseal. Sessions were conducted with junior otolaryngology and plastic surgery residents, during which mandibular fracture plates were contoured in a "preoperative" setting against the 3-D-printed short-segment templates, and an "intraoperative" setting against the previously manufactured, complete mandible model. The previously manufactured, complete model served as a surrogate for the intraoperative mandible with the fracture site reduced., Main Outcomes and Measures: The time for 3-D template printing, the "preoperative" (measure of the time consumed preoperatively), and "intraoperative" (measure of the time saved intraoperatively) times were recorded. Comparisons were made for cost estimates between a complete model and the 3-D-printed short-segment template. The operating room charge equivalent of the intraoperative time was also calculated., Results: Of the 3 patients whose data were used, 1 was a teenager and 2 were young adults. The total time for 3-D modeling and printing per short-segment template was less than 3 hours. The median (range) intraoperative time saved by precontouring the fracture plates was 7 (1-14), 5 (1-30), and 7 (2-15) minutes, and the operating room charge equivalents were $350.35 ($50.05-$700.70), $250 ($50.05-$1501.50), and $350.35 ($100.10-$750.75) for the angle, body, and symphyseal/parasymphyseal segments, respectively. The total cost for a single 3-D-printed template was less than $20, while that for a perfected complete model was approximately $2200., Conclusions and Relevance: We demonstrate that patient- and site-specific 3-D-printed short-segment templates can be created within the timeframe required for mandibular fracture repair. These novel 3-D-printed templates also demonstrate cost efficiency in the preoperative planning for complex mandibular fracture management compared with perfected models and facilitate plate contouring in a similar fashion. Estimation of reduced operative room cost and time with the application of these short-segment templates warrants studies in actual patient care., Level of Evidence: NA.
- Published
- 2018
- Full Text
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8. Adult Quality of Life Post Cleft Palate Repair: A Comparison of Two Techniques.
- Author
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Skladman R, Grames LM, Skolnick G, Nguyen DC, Naidoo SD, Patel KB, Marsh JL, and Woo AS
- Subjects
- Adult, Cleft Palate complications, Educational Status, Female, Follow-Up Studies, Humans, Male, Patient Satisfaction, Prospective Studies, Randomized Controlled Trials as Topic, Plastic Surgery Procedures adverse effects, Respiration, Sleep Wake Disorders etiology, Social Class, Speech Disorders etiology, Speech Disorders therapy, Speech Intelligibility, Speech Therapy, Treatment Outcome, Young Adult, Cleft Palate surgery, Quality of Life, Plastic Surgery Procedures methods
- Abstract
Background and Purpose: In 1989, the Cleft Palate-Craniofacial Journal published the first randomized prospective cleft surgery study, comparing the Kriens intravelar veloplasty (IVV) with a non-IVV 2-flap repair. Results in that and follow-up publications yielded no difference between the 2 groups for need for secondary velopharyngeal management. The subjects have now reached adulthood. This study was designed to ask: Is there any difference between the groups in the outcomes that multidisciplinary team care addresses: speech intelligibility, facial growth, breathing while awake and asleep, attainment of education, and long-term socioeconomic status?, Methods: Enrollees from the original published study were invited to participate in a survey. Subjects responded to questions about speech therapy and speech satisfaction, additional surgery, breathing patterns, sleep quality/sleep disorder, and dental occlusion. Demographic information, information on education level, profession, and socio-economic status were queried. Student t test and Fisher exact test were used to compare results., Results: Forty-two of the original 200 patients (20 Kriens IVV and 19 non-IVV) chose to participate. Average age at survey was 25 ± 3 years. Analysis yielded no difference between the 2 respondent groups for need for secondary velopharyngeal management. There were no differences in speech outcome and satisfaction (8 questions, 0.30 < P < 0.97), sleep concerns (3 questions, 0.16 < P < 0.39), and dental occlusion (P = 0.69). Equivalent proportions of the 2 groups had been in speech therapy (P = 0.22). There was no difference in education attainment of the 2 groups (P = 0.26)., Conclusions: The original randomized prospective trial suggested that there was no difference between the 2 surgery types in need for secondary velopharyngeal management. This long-term survey study on the same group of patients suggests that in young adulthood, the 2 groups have similar outcomes in terms of education, career choice, speech satisfaction, dental occlusion, and sleep disorder.
- Published
- 2017
- Full Text
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9. Brain structure in sagittal craniosynostosis.
- Author
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Paniagua B, Kim S, Moustapha M, Styner M, Cody-Hazlett H, Gimple-Smith R, Rumple A, Piven J, Gilmore J, Skolnick G, and Patel K
- Abstract
Craniosynostosis, the premature fusion of one or more cranial sutures, leads to grossly abnormal head shapes and pressure elevations within the brain caused by these deformities. To date, accepted treatments for craniosynostosis involve improving surgical skull shape aesthetics. However, the relationship between improved head shape and brain structure after surgery has not been yet established. Typically, clinical standard care involves the collection of diagnostic medical computed tomography (CT) imaging to evaluate the fused sutures and plan the surgical treatment. CT is known to provide very good reconstructions of the hard tissues in the skull but it fails to acquire good soft brain tissue contrast. This study intends to use magnetic resonance imaging to evaluate brain structure in a small dataset of sagittal craniosynostosis patients and thus quantify the effects of surgical intervention in overall brain structure. Very importantly, these effects are to be contrasted with normative shape, volume and brain structure databases. The work presented here wants to address gaps in clinical knowledge in craniosynostosis focusing on understanding the changes in brain volume and shape secondary to surgery, and compare those with normally developing children. This initial pilot study has the potential to add significant quality to the surgical care of a vulnerable patient population in whom we currently have limited understanding of brain developmental outcomes.
- Published
- 2017
- Full Text
- View/download PDF
10. Tachycardia in breast reconstructive microsurgery: Affirmation of the IMA tachycardia syndrome.
- Author
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Sachanandani NS, Kale SS, Skolnick GB, Barbour JR, and Myckatyn TM
- Subjects
- Blood Transfusion, Female, Fever complications, Free Tissue Flaps, Humans, Mammaplasty methods, Middle Aged, Perioperative Period, Retrospective Studies, Risk Factors, Syndrome, Mammaplasty adverse effects, Mammary Arteries surgery, Microsurgery adverse effects, Tachycardia etiology
- Abstract
Introduction: The internal mammary vessels are frequently chosen as recipient vessels for breast free flap reconstruction. We have noticed that when using the internal mammary recipients that these patients have a propensity for tachycardia that was not previously observed. Our aim was to investigate the factors related to perioperative tachycardia in the microsurgical breast reconstruction population and to address whether use of the internal mammary system is a causative factor in tachycardia., Methods: A retrospective chart review was conducted to identify patients who underwent abdominal-based microvascular breast reconstruction at the Washington University School of Medicine between 2002 and 2012 to identify the presence of tachycardia. After application of exclusion criteria, 76 microvascular abdominal-based free flap reconstructions were identified. The internal mammary (IM) TRAM group (n = 24) and the thoracodorsal (TD) TRAM group (n = 52) were compared. A binomial logistic regression was performed with the presence of tachycardia as the dependent variable., Results: There was a higher incidence of tachycardia in the IM TRAM group when compared to the TD TRAM group (p = 0.004). The variables predictive of tachycardia in our logistic regression model were IMA recipient (p = 0.04), need for transfusion (p = 0.03), and presence of fever (p = 0.01)., Conclusion: Our study reaffirms that there are several factors that are predictive of tachycardia in the setting of microvascular breast reconstruction. The IMA syndrome should be a recognized cause of tachycardia as using these recipient vessels are shown to be predictive of postoperative tachycardia as shown in our study., (Copyright © 2015 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.)
- Published
- 2015
- Full Text
- View/download PDF
11. The path of the superior sagittal sinus in unicoronal synostosis.
- Author
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Russell AJ, Patel KB, Skolnick G, Woo AS, and Smyth MD
- Subjects
- Craniosynostoses surgery, Female, Humans, Infant, Infant, Newborn, Male, Plastic Surgery Procedures, Retrospective Studies, Skull Base pathology, Skull Base surgery, Superior Sagittal Sinus surgery, Tomography, X-Ray Computed, Craniosynostoses pathology, Superior Sagittal Sinus pathology
- Abstract
Purpose: This study investigates the anatomic relationship between the superior sagittal sinus (SSS) and the sagittal suture in infants with uncorrected unicoronal synostosis. The morphology of the SSS is also evaluated postoperatively to assess whether normalization of intracranial structures occurs following reconstruction., Methods: The study sample consisted of 20 computed tomography scans (10 preoperative, 6 postoperative, and 4 unaffected controls) obtained between 2001 and 2013. The SSS and the sagittal suture were outlined using Analyze imaging software. These data were used to measure the maximum lateral discrepancy between the SSS and the sagittal suture preoperatively and to assess for postoperative changes in the morphology of the SSS., Results: In children with uncorrected unicoronal synostosis, the SSS deviates to the side of the patent coronal suture posteriorly and tends to follow the path of the sagittal and metopic sutures. The lateral discrepancy between the SSS and the sagittal suture ranged from 5.0 to 11.8 mm, with a 99.9 % upper prediction bound of 14.4 mm. Postoperatively, the curvature of the SSS was statistically decreased following surgical intervention, though it remained significantly greater than in unaffected controls., Conclusions: The SSS follows a predictable course relative to surface landmarks in children with unicoronal synostosis. When creating burr holes for craniotomies, the SSS can be avoided in 99.9 % of cases by remaining at least 14.4 mm from the lateral edge of the sagittal suture. Postoperative changes in the path of the SSS provide indirect evidence for normalization of regional brain morphology following fronto-orbital advancement.
- Published
- 2014
- Full Text
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12. Calvarial thickness and diploic space development in children with sagittal synostosis as assessed by computed tomography.
- Author
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Ghosh TD, Skolnick G, Nguyen DC, Sun H, Patel K, Smyth MD, and Woo AS
- Subjects
- Adolescent, Age Factors, Case-Control Studies, Child, Child, Preschool, Craniosynostoses surgery, Female, Humans, Infant, Male, Postoperative Period, Plastic Surgery Procedures methods, Regression Analysis, Retrospective Studies, Sex Factors, Skull anatomy & histology, Tomography, X-Ray Computed, Craniosynostoses pathology
- Abstract
Following surgical management of craniosynostosis, residual calvarial defects may require reconstruction, frequently with the use of cranial bone grafts. Knowledge of optimal sites for harvest would be beneficial in such situations. The goal of this study is to compare calvarial thickness (CALV) and diploic thickness (DIPL) in children with corrected sagittal synostosis to normal controls (n = 47) using postoperative CT scans. We also compare the results from children who had undergone open (OPEN) (n = 26) and endoscopic (ENDO) (n = 26) surgery. On each skull, CALV and DIPL were measured at 44 points over 5 regions. Multiple regression analysis was used to compare CALV and DIPL controlling for gender and age. Children who had undergone previous craniosynostosis correction tended to have thinner CALV compared to controls in operated regions but thicker CALV in unoperated regions (P < 0.001). Adjusted mean CALV was thinner overall in ENDO compared to OPEN (P = 0.020). Children with corrected sagittal synostosis have thinner DIPL than controls (P = 0.002). No difference was found in DIPL comparing OPEN and ENDO (P = 0.977) approaches. Children who had undergone previous craniosynostosis correction tended to have thinner CALV when compared to controls in operated regions but thicker CALV in unoperated regions. ENDO calvaria were thinner than OPEN calvaria. Children with corrected sagittal synostosis have thinner DIPL than controls; no difference was found in DIPL comparing OPEN and ENDO approaches. Due to irregularities in bone development among children who had previously undergone calvarial reconstruction, individualized preoperative CT assessment is recommended in all patients undergoing secondary split calvarial bone grafting procedures.
- Published
- 2014
- Full Text
- View/download PDF
13. Assessing long-term outcomes of open and endoscopic sagittal synostosis reconstruction using three-dimensional photography.
- Author
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Le MB, Patel K, Skolnick G, Naidoo S, Smyth M, Kane A, and Woo AS
- Subjects
- Age Factors, Case-Control Studies, Cephalometry methods, Craniotomy methods, Female, Follow-Up Studies, Forehead pathology, Head Protective Devices, Humans, Infant, Longitudinal Studies, Male, Parietal Bone surgery, Treatment Outcome, Craniosynostoses surgery, Endoscopy methods, Imaging, Three-Dimensional methods, Parietal Bone abnormalities, Photography methods, Plastic Surgery Procedures methods
- Abstract
Sagittal synostosis has been successfully managed with numerous surgical techniques. Nevertheless, few data on long-term outcomes exist to justify use of one surgical technique over another. In this study, we compared children with surgically corrected sagittal synostosis to their age-matched control subjects to assess the longevity of their corrections. Furthermore, the outcomes of open repairs were compared with endoscopic repairs.Following institutional review board approval, three-dimensional photographs of patients who underwent surgical reconstruction for nonsyndromic sagittal synostosis were analyzed to determine biparietal and anterior-posterior diameter, circumference, cephalic index, cranial vault volume, cranial height, and forehead inclination. Thirteen patients who had undergone open repair, including 6 total cranial vault and 7 modified-pi reconstructions, and 6 patients who had undergone endoscopic strip craniectomy with barrel-stave osteotomies and postoperative helmeting were compared with nonsynostotic age-matched control subjects. Mean follow-up was 97.5 months after open and 48.9 months after endoscopic repair. Student t tests were used for analysis. In the second arm of this study, 33 patients who had undergone endoscopic repair were compared with the 13 patients who had undergone open repair; mean follow-up was 24.8 months after endoscopic repair. Linear regression models were used to adjust for age and sex.After comparing three-dimensional photographs of children who were more than 3 years postoperative from surgical correction for sagittal synostosis with their age-matched control subjects, no statistically significant differences were found in any of the measured parameters. In addition, no differences were detected between open reconstruction versus endoscopic repair, suggesting equivalence in final results for both procedures.
- Published
- 2014
- Full Text
- View/download PDF
14. Anatomical study of the medial crura and the effect on nasal tip projection in open rhinoplasty.
- Author
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Patel KB, Mendonca DA, Skolnick G, and Woo AS
- Subjects
- Aged, Aged, 80 and over, Cadaver, Dissection, Female, Humans, Male, Suture Techniques, Cartilage anatomy & histology, Cartilage surgery, Nose anatomy & histology, Nose surgery, Rhinoplasty
- Abstract
Background: Common variations in morphology of the medial crura have been described. The authors' observation is that changes in nasal tip projection depend on the shape and strength of the medial crura. The authors investigated how differences in medial crura shape affect tip projection after surgical intervention., Methods: Seventeen cadaver heads were dissected with an open rhinoplasty approach. Nasal tip projection and columellar length and width were measured. Medial crura shape was noted and classified. Anthropometric measurements were made preoperatively and after each of the following procedures: (1) elevation of skin envelope and closure of the columellar incision, (2) interdomal and medial crural sutures, and (3) placement and fixation of a floating columellar strut., Results: Three anatomical variations of the medial crura were noted: type 1, asymmetric parallel (n = 7); type 2, flared symmetric (n = 5); and type 3, straight symmetric (n = 5). A significant difference in tip projection after elevation of the skin envelope and closure was discovered between types 1 and 3 (p = 0.004). Type 2 medial crura were found to have a mean reduction of 1.0 mm. Suture techniques resulted in return to baseline tip projection for types 1 and 2. Columellar strut placement increased tip projection in all types., Conclusions: Changes in tip projection after an open rhinoplasty depend on the shape of the medial crura. Straight symmetric (type 3) cartilages can maintain tip projection without any additional intervention during an open rhinoplasty. Asymmetric parallel (type 1) or flared symmetric (type 2) variants will require interdomal and medial crural sutures to maintain baseline tip projection.
- Published
- 2013
- Full Text
- View/download PDF
15. Comparative study of cranial anthropometric measurement by traditional calipers to computed tomography and three-dimensional photogrammetry.
- Author
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Mendonca DA, Naidoo SD, Skolnick G, Skladman R, and Woo AS
- Subjects
- Cephalometry instrumentation, Female, Humans, Infant, Male, Reproducibility of Results, Retrospective Studies, Cephalometry methods, Photogrammetry methods, Skull anatomy & histology, Tomography, X-Ray Computed methods
- Abstract
Craniofacial anthropometry by direct caliper measurements is a common method of quantifying the morphology of the cranial vault. New digital imaging modalities including computed tomography and three-dimensional photogrammetry are similarly being used to obtain craniofacial surface measurements. This study sought to compare the accuracy of anthropometric measurements obtained by calipers versus 2 methods of digital imaging.Standard anterior-posterior, biparietal, and cranial index measurements were directly obtained on 19 participants with an age range of 1 to 20 months. Computed tomographic scans and three-dimensional photographs were both obtained on each child within 2 weeks of the clinical examination. Two analysts measured the anterior-posterior and biparietal distances on the digital images. Measures of reliability and bias between the modalities were calculated and compared.Caliper measurements were found to underestimate the anterior-posterior and biparietal distances as compared with those of the computed tomography and the three-dimensional photogrammetry (P < 0.001). Cranial index measurements between the computed tomography and the calipers differed by up to 6%. The difference between the 2 modalities was statistically significant (P = 0.021). The biparietal and cranial index results were similar between the digital modalities, but the anterior-posterior measurement was greater with the three-dimensional photogrammetry (P = 0.002). The coefficients of variation for repeated measures based on the computed tomography and the three-dimensional photogrammetry were 0.008 and 0.007, respectively.In conclusion, measurements based on digital modalities are generally reliable and interchangeable. Caliper measurements lead to underestimation of anterior-posterior and biparietal values compared with digital imaging.
- Published
- 2013
- Full Text
- View/download PDF
16. E23K single nucleotide polymorphism in the islet ATP-sensitive potassium channel gene (Kir6.2) contributes as much to the risk of Type II diabetes in Caucasians as the PPARgamma Pro12Ala variant.
- Author
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Love-Gregory L, Wasson J, Lin J, Skolnick G, Suarez B, and Permutt MA
- Subjects
- Adenosine Triphosphate physiology, Genetic Variation, Humans, Potassium Channels, Inwardly Rectifying metabolism, Receptors, Cytoplasmic and Nuclear genetics, Transcription Factors genetics, Diabetes Mellitus, Type 2 genetics, Genetic Predisposition to Disease, Islets of Langerhans metabolism, Polymorphism, Single Nucleotide, Potassium Channels, Inwardly Rectifying genetics, White People genetics
- Published
- 2003
- Full Text
- View/download PDF
17. Searching for type 2 diabetes genes on chromosome 20.
- Author
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Permutt MA, Wasson J, Love-Gregory L, Ma J, Skolnick G, Suarez B, Lin J, and Glaser B
- Subjects
- Aged, Alleles, Base Sequence genetics, Female, Gene Frequency, Genetic Linkage, Humans, Jews genetics, Lod Score, Male, Microsatellite Repeats, Middle Aged, Molecular Sequence Data, Mutation genetics, Polymorphism, Genetic genetics, Reference Values, Chromosome Mapping, Chromosomes, Human, Pair 20 genetics, Diabetes Mellitus, Type 2 genetics
- Abstract
Genome scans in families with type 2 diabetes identified a putative locus on chromosome 20q. For this study, linkage disequilibrium mapping was used in an effort to narrow a 7.3-Mb region in an Ashkenazi type 2 diabetic population. The region encompassed a 1-logarithm of odds (LOD) interval around the microsatellite marker D20S107, which gave a LOD score of >3 in linkage analysis of a combined Caucasian population. This 7.3-Mb region contained 25 known and 99 predicted genes. Predicted single nucleotide polymorphisms (SNPs) were chosen from public databases and validated. Two SNPs were unique to the Ashkenazi. Here, 91 SNPs with a minor allele frequency of >or=10% were genotyped in pooled DNA from 150 case subjects and 150 control subjects of Ashkenazi Jewish descent. The SNP association study showed that SNP rs2664537 in the TIX1 gene had a significant P value of 0.035, but the finding did not replicate in an additional case pool. In addition, HNF4a and Mybl2 were screened for mutations and new polymorphisms. No mutations were identified, and a new nonsynonymous SNP (R687C in exon 14 of Mybl2) was found. The limits to this type of association study are discussed.
- Published
- 2002
- Full Text
- View/download PDF
18. Assessing allele frequencies of single nucleotide polymorphisms in DNA pools by pyrosequencing technology.
- Author
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Wasson J, Skolnick G, Love-Gregory L, and Permutt MA
- Subjects
- Diabetes Mellitus, Type 2 genetics, Genotype, Humans, Jews genetics, Gene Frequency genetics, Polymorphism, Single Nucleotide genetics, Sequence Analysis, DNA methods
- Abstract
Single nucleotide polymorphism (SNP) association studies searching for differences in allele frequencies between cases and controls have been widely used for genetic analysis. Individual genotyping is prohibitively expensive in large sample sizes. Pooling of samples provides the obvious advantage of higher throughput and lower cost. Here we report our results with the analysis of SNP allele frequencies in DNA pools using Pyrosequencing technology. For seven different SNPs, we observed a mean difference of 1.1 +/- 0.6% between allele frequencies determined in two different DNA pools (n = 150 cases and 150 controls) compared to individually genotyped samples.
- Published
- 2002
- Full Text
- View/download PDF
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