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1.
J Pediatr Urol ; 2024 Mar 07.
Artigo em Inglês | MEDLINE | ID: mdl-38704298

RESUMO

INTRODUCTION: Pelvic fracture urethral injury (PFUI) is more severe in younger individuals. The adolescent group is prone to protracted morbidity due to severity of the injury and its impact on lifestyle. Hence, treatment options and data on outcomes are crucial in planning management. The adolescents are a subgroup in several series of PFUI, but literature exclusively studying this group is sparse. MATERIALS & METHODS: A retrospective review of all adolescents (aged between 10 and 19 years as defined by WHO) who underwent surgical repair for PFUI between January 2005 and December 2019 was conducted. Success was defined as a bell-shaped urine flow curve and Qmax of >15 ml/s, no evidence of re-stricture (on cystoscopy/MCU), and no re-intervention. Measurements of the length of the urethral defect and bulbar urethra were done using a digital scale by the radiologist from micturating cystourethrogram (MCU). The Gapometry/Urethrometry (GU) index was calculated as the ratio of the length of the urethral defect to that of the bulbar urethra. Data was analysed using SPSS software version 20.0 and Stata Version 16. The primary outcome was the success of anastomotic urethroplasty. Secondary outcomes were evaluating factors predicting operative complexity (simple perineal versus elaborate perineal approach). RESULTS: We studied 22 patients, out of which 8 were referred following prior failed intervention elsewhere. The mean age was 16.5 + 2.7 years. All the patients were treated using a perineal approach with an overall success rate of 90.9%. Two patients had a failure and were managed with Endoscopic Internal Urethrotomy (EIU), and urethral dilatation. The median follow-up was 24 months. All 8 patients with prior failed interventions had a successful outcome. Twelve patients required inferior pubectomy (elaborate perineal approach). The median length of the urethral defect (2.3 cm IQR- 1.45,3.30 vs. 1 cm, IQR-0.65, 1.6) and the mean GU index (0.45 ± 0.18 cm vs. 0.25 cm ± 0.12 cm) were significantly higher in those who required an elaborate perineal approach. CONCLUSIONS: The perineal approach for surgical repair (anastomotic urethroplasty) of pelvic fracture urethral injury has a favourable success rate of 90.9% in adolescents. Re-do anastomotic urethroplasty for prior failed repairs also had a high success rate of 100%. Cases requiring an elaborate perineal approach were associated with a significantly higher Gapometry/Urethrometry Index (>0.45) and length of the urethral defect (>2.3 cm). This information may assist in patient counselling and preparation for additional steps during repair.

2.
Clin Genet ; 105(4): 453-454, 2024 04.
Artigo em Inglês | MEDLINE | ID: mdl-38072398

RESUMO

This graphic abstract combines pedigree, dysmorphology features, radiographs, and the PRKG2 protein domain, specifically the CNB-A regulatory domain, which harbors a mutation resulting in premature protein termination.


Assuntos
Exoma , Família , Humanos , Proteína Quinase Dependente de GMP Cíclico Tipo II/genética , Exoma/genética , Mutação/genética , Linhagem
3.
South Asian J Cancer ; 12(4): 349-358, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-38130276

RESUMO

Jeyashanth RijuObjectives The study was aimed to (1) evaluate the effectiveness of clinical examination, intraoperative finding, and contrast-enhanced computed tomography (CECT) to detect extranodal extension (ENE) in buccoalveolar complex squamous cell carcinoma (BAOSCC), (2) to know various factors influencing ENE, and (3) to evaluate survival outcome in patients with ENE. Materials and Methods This was a retrospective cohort study, which included 137 patients with BAOSCC who underwent curative treatment between May 2019 and April 2021. Collaborative findings suggestive of ENE were noted during preoperative clinical examination, CECT, and intraoperatively, and their efficacy was compared with postoperative histopathology. Also, the various factors associated with ENE were evaluated and compared. Statistical Analysis Univariate and multivariate analysis of parameters was done using multiple logistic regression analysis and significant correlation was determined using chi-square test between ENE positive and negative categories. Analysis of prognosis and survival was done by Kaplan-Meier curve plotting using regression analysis and its significance was compared. Results The overall prevalence of ENE was 18.98% and that of lymph node involvement was 40.88%. CECT (73.1%) was found to be more sensitive in detecting ENE compared to intraoperative examination (46.2%) and clinical examination (34.6%).In comparison with clinical examination (91.9%) or CECT (78.38%), intraoperative examination (93.7%) showed the highest specificity in detecting ENE. Clinical nodal size ≥ 3 cm ( p ≤ 0.001), fixity ( p ≤ 0.001), and clinical number of nodes ( p ≤ 0.001) had significant association with ENE. The presence of thick nodal walls on CECT increased the probability of predicting ENE 15 times ( p = 0.180, confidence interval: 0.3-765.4). After a mean follow-up of 18 months, subjects without nodal positivity had a survival advantage over patients with positive lymph nodes (86.4% vs. 53.3%) and those with ENE (86.4% vs. 23.2%), respectively. Conclusion The results demonstrated that clinical examination can be used as an adjuvant to radiological imaging for prediction of ENE preoperatively. Clinical finding suggesting size of node ≥ 3 cm and ≥ 2 nodes are strong predictor of ENE, in addition to other known predictors. Patients with ENE had an unfavorable prognosis when compared with subjects with metastatic nodes without ENE. Presence of ENE remains one of the strongest factors predicting recurrence and thus poor prognosis.

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