RESUMO
Background: Although ultrasound is considered the gold standard for the evaluation of children with suspected appendicitis, there is still much debate about the most accurate ultrasound findings. The purpose of this study was to define the best ultrasound signs that could ultimately improve the diagnostic accuracy of ultrasound for diagnosing pediatric acute appendicitis, and to differentiate between simple appendicitis and complicated appendicitis. Patients and Methods: After approval by our Institutional Review Board, a prospective study was carried out from January 1, 2022, to July 31, 2023, in a pediatric emergency department. We included all patients aged under 14 years with suspected appendicitis and ultrasound-visualized appendix. Results: A total of 550 patients presented with suspected appendicitis during the study period. Of these children, 411 had an ultrasound-visualized appendix. Our patients' mean age was 9.4 years. The best positive predictive value of ultrasound was found for appendiceal diameter ≥7.5 mm. The combination of an appendiceal diameter <6 mm and the lack of peri-appendiceal free fluid on ultrasound rules out the diagnosis of appendicitis. The best diagnostic accuracy of ultrasound, which was 92%, was achieved for appendix diameters ≥6.5 mm. The sonographic sign giving the best ultrasound accuracy for diagnosing complicated appendicitis was an appendix diameter ≥9 mm. Conclusions: In conclusion, our present study demonstrated that appendiceal diameter ≥6.5 mm is the gold standard for diagnosing appendicitis in pediatric patients. The combination of an appendiceal diameter <6 mm and the lack of peri-appendiceal free fluid on ultrasound would rule out appendicitis.
Assuntos
Apendicite , Ultrassonografia , Humanos , Apendicite/diagnóstico por imagem , Criança , Estudos Prospectivos , Ultrassonografia/métodos , Feminino , Masculino , Adolescente , Pré-Escolar , Apêndice/diagnóstico por imagem , Apêndice/patologia , Lactente , Serviço Hospitalar de Emergência , Sensibilidade e EspecificidadeAssuntos
Hipospadia , Complicações Pós-Operatórias , Humanos , Hipospadia/cirurgia , Masculino , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/etiologia , Pré-Escolar , Fatores Etários , Criança , Lactente , Procedimentos Cirúrgicos Urológicos Masculinos/efeitos adversos , Procedimentos Cirúrgicos Urológicos Masculinos/métodos , Estudos RetrospectivosRESUMO
PURPOSE: To identify the risk factors for adverse outcomes after pediatric pyeloplasty. METHODS: We conducted a retrospective review of all children under the age of 14 years who underwent primary pyeloplasty for unilateral ureteropelvic junction (UPJ) obstruction at a single teaching hospital in Tunisia between January 1, 2013, and December 31, 2022. RESULTS: A total of 103 patients were included. Median age of patients at surgery was 27 months (interquartile range [IQR], 13-44). On ultrasound, median renal pelvic anteroposterior diameter was 3.2 cm (IQR, 2.3-4), and the median renal cortex thickness (RCT) was 2.5 mm (IQR, 2-3.5). Median differential renal function (DRF) on preoperative radionuclide renal scan was 40% (IQR, 30-46). Postoperative adverse outcomes occurred in 28 patients (27.2%). These included 19 cases of urinary tract infections (UTIs), 11 cases of UPJ restenosis, four cases of UPJ leakage, two cases of urinoma, and two cases of diversion-related complications. Multivariate logistic regression analysis revealed two factors significantly and independently related to postoperative negative outcomes: RCT <3 mm and DRF > 50%. CONCLUSION: Our study demonstrated that preoperative RCT on ultrasound of less than 3 mm and preoperative DRF on radionuclide renal scan of more than 50% were independent risk factors for adverse outcomes following pediatric pyeloplasty. These factors could be of interest in identifying, early on, patients who will develop postoperative negative outcomes, giving them more attention and support, and explaining the prognosis to the patient and family.
Assuntos
Hidronefrose , Ureter , Obstrução Ureteral , Criança , Humanos , Lactente , Pré-Escolar , Adolescente , Rim/diagnóstico por imagem , Rim/cirurgia , Ureter/cirurgia , Pelve Renal/diagnóstico por imagem , Pelve Renal/cirurgia , Obstrução Ureteral/diagnóstico por imagem , Obstrução Ureteral/etiologia , Obstrução Ureteral/cirurgia , Estudos Retrospectivos , Fatores de Risco , Radioisótopos , Resultado do Tratamento , Hidronefrose/diagnóstico por imagem , Hidronefrose/etiologia , Hidronefrose/cirurgiaRESUMO
Background: Most studies have demonstrated the high accuracy of ultrasound for the diagnosis of acute appendicitis (AA) in children. However, the lack of visualization of the appendix on ultrasound is usually a challenge. The aim of this study was to identify any factors that might help the physician make the right decision when dealing with a child with suspected appendicitis and an appendix not seen on ultrasound. Patients and Methods: After receiving Institutional Review Board approval, we conducted a prospective study in a pediatric emergency department from January 1, 2022, to December 31, 2022. All children under 14 years of age with suspected AA and an appendix not visualized on ultrasound were included. Results: During the study period, 333 children presented with suspected AA. Of these patients, 106 had an appendix not seen on ultrasound. Our patients' median age was 10 years (interquartile range [IQR], 8-11 years), with 54.7% (n = 58) of children being female. Twenty-five (23.6%) were ultimately diagnosed with AA based on pathologic examination. Multivariable logistic regression analysis revealed that Alvarado score ≥6 and increased peri-appendiceal fat echogenicity were predictive for AA. The combination of these two factors provided a positive predictive value of 100%. A white blood cell (WBC) count ≤10 × 109/L and/or a C-reactive protein (CRP) level ≤6 mg/L makes the diagnosis of appendicitis unlikely. Conclusions: In conclusion, our study demonstrated that an Alvarado score at or above six and increased peri-appendiceal fat echogenicity are independent predictive factors of AA in children with non-visualized appendix on ultrasound. The combination of these two factors would confirm the diagnosis of AA in these patients.
Assuntos
Apendicite , Apêndice , Criança , Humanos , Feminino , Masculino , Apêndice/diagnóstico por imagem , Apêndice/patologia , Apendicite/diagnóstico por imagem , Estudos Prospectivos , Valor Preditivo dos Testes , Ultrassonografia , Doença Aguda , Estudos Retrospectivos , ApendicectomiaRESUMO
Background: Spondylocostal dysostosis is a rare genetic disorder caused by mutations in DLL3, MESP2, LFNG, HES7, TBX6, and RIPPLY2. A particular form of this disorder characterized by the association of spondylocostal dysostosis with multiple pterygia has been reported and called spondylospinal thoracic dysostosis. Both disorders affect the spine and ribs, leading to abnormal development of the spine. Spondylospinal thoracic dysostosis is a rare syndrome characterized by the association of multiple vertebral segmentation defects, thoracic cage deformity, and multiple pterygia. This syndrome can be considered a different form of the described spondylocostal dysostosis. However, no genetic testing has been conducted for this rare disorder so far. Methods: We report here the case of an 18-month-old female patient presenting the clinical and radiological features of spondylospinal thoracic dysostosis. To determine the underlying genetic etiology, whole exome sequencing (WES) and Sanger sequencing were performed. Results: Using WES, we identified a variant in the TPM2 gene c. 628C>T, already reported in the non-lethal form of multiple pterygium syndrome. In addition, following the analysis of WES data, using bioinformatic tools, for oligogenic diseases, we identified candidate modifier genes, CAP2 and ADCY6, that could impact the clinical manifestations. Conclusion: We showed a potential association between TPM2 and the uncommon spondylocostal dysostosis phenotype that would require further validation on larger cohort.