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1.
J Urol ; 186(4 Suppl): 1668-71, 2011 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-21855922

RESUMO

PURPOSE: Voiding cystourethrogram is the gold standard for evaluating and diagnosing vesicoureteral reflux. Reflux detection can potentially be affected by many parameters during voiding cystourethrogram. MATERIALS AND METHODS: A 29-item survey was sent via e-mail through SurveyMonkey® to the chairperson of pediatric radiology at 65 national pediatric hospitals. This survey included questions on institutional protocols for performing voiding cystourethrogram. RESULTS: Responses were received from 41 institutions from across North America, including 17 of 19 Randomized Intervention for Children with Vesicoureteral Reflux study sites. Many aspects of the reports of voiding cystourethrogram protocols were similar with 90% or greater agreement in allowing parents in the room, contrast infusion by gravity, catheter or feeding tube use without balloons, no contrast dilution and voiding without a catheter in place. The height at which contrast medium was raised for infusion was 40, 60, 80, 100 and greater than 100 cm at 2.4%, 17.1%, 17.1%, 39.0% and 12.2% of sites, respectively, while the height was not measured or it varied at 12.2%. The infilling phase stopped when the bladder appeared full at 2.4% of sites, infusion stopped itself at 12.2%, patient voided at 61.0%, volume attained age expected capacity at 12.2%, the patient was uncomfortable at 4.9% and results varied at 7.3%. CONCLUSIONS: Data reveal that voiding cystourethrogram is performed differently across North America and no standard protocol exists for the procedure. These differences could significantly impact voiding cystourethrogram results among institutions and taint our ability to compare results in the literature.


Assuntos
Protocolos Clínicos/normas , Micção , Urografia/métodos , Refluxo Vesicoureteral/diagnóstico por imagem , Pré-Escolar , Humanos , América do Norte , Reprodutibilidade dos Testes , Urografia/normas , Urografia/estatística & dados numéricos , Refluxo Vesicoureteral/fisiopatologia
2.
Am J Med Genet A ; 146A(4): 453-8, 2008 Feb 15.
Artigo em Inglês | MEDLINE | ID: mdl-18203189

RESUMO

Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal dysplasia associated with cranial, clavicular, and dental anomalies. It is caused by mutations in the RUNX2 gene, which encodes an osteoblast-specific transcription factor and maps to chromosome 6p21. We report clinical and molecular cytogenetic studies in a patient with clinical features of CCD including wormian bones, delayed fontanel closure, hypoplastic clavicles and pubic rami, and supernumerary dentition. Additional abnormalities of bone growth and connective tissue, including easy bruisability, scarring, bleeding, joint hypermobility, and developmental delay were also observed. Molecular cytogenetic studies identified a de novo apparently balanced three-way translocation 46,XY,t(4;6;21)(p16;p21.1;q21). Further mapping revealed the breakpoint on 6p21 to be approximately 50 kb upstream of exon 1 of the RUNX2 gene, with RUNX2 being intact on the derivative chromosome 6. We hypothesize that the proband's CCD has arisen from disruption of the developmentally regulated gene RUNX2 at the 6p21 breakpoint, due to a position effect mutation which may have altered the expression of the gene. Further studies might unravel a new regulatory element for RUNX2.


Assuntos
Cromossomos Humanos Par 21 , Cromossomos Humanos Par 4 , Cromossomos Humanos Par 6 , Displasia Cleidocraniana/genética , Translocação Genética , Adolescente , Análise Citogenética , Humanos , Hibridização in Situ Fluorescente , Masculino
3.
AJNR Am J Neuroradiol ; 24(4): 766-9, 2003 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-12695220

RESUMO

BACKGROUND AND PURPOSE: Several studies have been undertaken to validate quantitative methods of evaluating cervical spinal stenosis. This study was performed to assess the degree of interobserver and intraobserver agreement in the qualitative evaluation of cervical spinal stenosis on CT myelograms and MR images. METHODS: Cervical MR images and CT myelograms of 38 patients were evaluated retrospectively. Six neuroradiologists with various backgrounds and training independently assessed the level, degree, and cause of stenosis on either MR images or CT myelograms. Unknown to the evaluators, 16 of the patients were evaluated twice to determine intraobserver variability. RESULTS: Interobserver agreement among the radiologists with regard to level, degree, and cause of stenosis on CT myelograms showed kappa values of 0.50, 0.26, and 0.32, respectively, and on MR images showed kappa values of 0.60, 0.31, and 0.22, respectively. Intraobserver agreement with regard to level, degree, and cause of stenosis on CT myelograms showed mean kappa values of 0.69, 0.41, and 0.55, respectively, and on MR images showed mean kappa values of 0.80, 0.37, and 0.40, respectively. CONCLUSION: MR imaging and CT myelographic evaluation of cervical spinal stenosis by using current qualitative methods results in significant variation in image interpretation.


Assuntos
Vértebras Cervicais , Aumento da Imagem , Imageamento por Ressonância Magnética , Mielografia , Compressão da Medula Espinal/diagnóstico , Estenose Espinal/diagnóstico , Tomografia Computadorizada por Raios X , Vértebras Cervicais/patologia , Humanos , Variações Dependentes do Observador , Estudos Retrospectivos , Sensibilidade e Especificidade , Compressão da Medula Espinal/classificação , Estenose Espinal/classificação
4.
Pediatr Rheumatol Online J ; 8: 14, 2010 Apr 27.
Artigo em Inglês | MEDLINE | ID: mdl-20423513

RESUMO

BACKGROUND: Our earlier work in the ultrasonograpy of localized scleroderma (LS) suggests that altered levels of echogenicity and vascularity can be associated with disease activity. Utrasound is clinically benign and readily available, but can be limited by operator dependence. We present our efforts to standardize image acquisition and interpretation of pediatric LS to better evaluate the correlation between specific sonographic findings and disease activity. METHODS: Several meetings have been held among our multi-center group (LOCUS) to work towards standardizing sonographic technique and image interpretation. Demonstration and experience in image acquisition were conducted at workshop meetings. Following meetings in 2007, an ultrasound measure was developed to standardize evaluation of differences in echogenicity and vascularity. Based upon our initial observations, we have labeled this an ultrasound disease activity measure. This preliminary measure was subsequently evaluated on over 180 scans of pediatric LS lesions. This review suggested that scoring levels should be expanded to better capture the range of observed differences. The revised levels and their definitions were formulated at a February 2009 workshop meeting. We have also developed assessments for scoring changes in tissue thickness and lesion size to better determine if these parameters aid evaluation of disease state. RESULTS: We have standardized our protocol for acquiring ultrasound images of pediatric LS lesions. A wide range of sonographic differences has been seen in the dermis, hypodermis, and deep tissue layers of active lesions. Preliminary ultrasound assessments have been generated. The disease activity measure scores for altered levels of echogenicity and vascularity in the lesion, and other assessments score for differences in lesion tissue layer thickness and changes in lesion size. CONCLUSIONS: We describe the range of sonographic differences found in pediatric LS, and present our efforts to standardize ultrasound acquisition and image interpretation for this disease. We present ultrasound measures that may aid evaluation of disease state. These assessments should be considered a work in progress, whose purpose is to facilitate further study in this area. More studies are needed to assess their validity and reliability.

6.
J Pediatr Urol ; 4(2): 170-2, 2008 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-18631918

RESUMO

Patients with severe prune belly syndrome rarely survive beyond the first days of life. We present a case of prune belly syndrome that initially presented with severe oligohydramnios, megacystis and associated poor urine biochemistries. Due to an anteriorly located placenta the patient was referred to three major centers, but was turned down because of the unfavorable prognostic findings. Therefore, fetal intervention was performed with 32 vesicocentesis and amnioinfusion procedures. Despite the unfavorable prenatal findings, and having undergone numerous fetal interventions, the birth resulted in a viable infant.


Assuntos
Síndrome do Abdome em Ameixa Seca/cirurgia , Síndrome do Abdome em Ameixa Seca/terapia , Bexiga Urinária/anormalidades , Adulto , Feminino , Hidratação/métodos , Humanos , Recém-Nascido , Masculino , Oligo-Hidrâmnio/diagnóstico por imagem , Oligo-Hidrâmnio/cirurgia , Oligo-Hidrâmnio/terapia , Gravidez , Prognóstico , Síndrome do Abdome em Ameixa Seca/diagnóstico por imagem , Índice de Gravidade de Doença , Ultrassonografia , Bexiga Urinária/diagnóstico por imagem , Bexiga Urinária/cirurgia
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