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1.
Am Surg ; 89(6): 2284-2290, 2023 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-35437027

RESUMEN

OBJECTIVES: Using rectal contrast computed tomography (CT) to identify traumatic colorectal injuries has become commonplace; however, these injuries remain relatively infrequent findings on CTs obtained for penetrating back and flank trauma. We conducted a meta-analysis to ascertain the efficacy of rectal contrast CT in identifying such injuries in victims penetrating injuries. METHODS: PubMed and Embase were queried for relevant articles between 1974 and 2022. Review articles, case studies, and non-English manuscripts were excluded. Studies without descriptive CT and operative findings were excluded. Positive scans refer to rectal contrast extravasation. Sensitivity and specificity of rectal contrast CT scans were calculated with aggregated CT findings that were cross-referenced with laparotomy findings. RESULTS: Only 8 manuscripts representing 506 patients quantified colorectal injuries and specified patients with rectal contrast extravasation. Seven patients with true colorectal injuries had no contrast extravasation on CT. There was one true positive scan. Another scan identified contrast extravasation, but laparotomy revealed no colorectal injury. Rectal contrast had sensitivity of 12.5%, specificity 99.8%, positive predictive value (PPV) 50%, negative predictive value (NPV) 99%, and a false negative rate of 88% in identifying colonic injuries. DISCUSSION: The summation of 8 manuscripts suggest that the addition of rectal contrast in identifying colonic and rectal injuries may be of limited utility given its poor sensitivity and may be unnecessary. In its absence, subtle clues such as hematomas, extraluminal air, IV-dye extravasation, and trajectory may be additional indicators of injury. Further investigations are required to demonstrate a true benefit for the addition of rectal contrast.


Asunto(s)
Traumatismos Abdominales , Heridas Penetrantes , Humanos , Heridas Penetrantes/diagnóstico por imagen , Heridas Penetrantes/cirugía , Tomografía Computarizada por Rayos X/métodos , Recto/diagnóstico por imagen , Valor Predictivo de las Pruebas , Traumatismos Abdominales/diagnóstico por imagen , Traumatismos Abdominales/cirugía , Sensibilidad y Especificidad , Estudios Retrospectivos
3.
Diabetes ; 53(5): 1375-84, 2004 May.
Artículo en Inglés | MEDLINE | ID: mdl-15111509

RESUMEN

Maturity-onset diabetes of the young (MODY) is a subtype of diabetes defined by an autosomal dominant inheritance and a young onset. Six MODY genes have been discovered to date. To identify additional MODY loci, we conducted a genome scan in 21 extended U.S. families (15 white and 6 from minorities, for a total of 237 individuals) in which MODY was not caused by known MODY genes. Seven chromosomal regions (1q42, 2q24, 2q37, 4p13, 8p23, 11p15, and 19q12) had a parametric heterogeneity logarithm of odds (HLOD) > or =1.00 or a nonparametric logarithm of odds (LOD) > or =0.59 (P < or = 0.05) in the initial screen. After typing additional markers at these loci to reduce the spacing to 2-3 cM, significant linkage was detected on 8p23 (HLOD = 3.37 at D8S1130 and nonparametric LOD = 3.66; P = 2 x 10(-5) at D8S265), where a 4.7-Mb inversion polymorphism is located. Thirty percent of the families (6 of 21) were linked with this region. Another linkage peak on chromosome 2q37 with an HLOD of 1.96 at D2S345/D2S2968 accounted for diabetes in an additional 25% of families (5 of 21). All 6 minority families were among the 11 families linked to these loci. None of the other loci followed up had an HLOD exceeding 1.50. In summary, we have identified a MODY locus on 8p23 that accounts for diabetes in a substantial proportion of MODY cases unlinked to known MODY genes. Another novel MODY locus may be present on 2q37. Cloning these new MODY genes may offer insights to disease pathways that are relevant to the cause of common type 2 diabetes.


Asunto(s)
Mapeo Cromosómico , Cromosomas Humanos Par 8/genética , Diabetes Mellitus Tipo 2/genética , Adolescente , Adulto , Niño , Cromosomas Humanos Par 2/genética , Diabetes Mellitus Tipo 2/etnología , Ligamiento Genético , Marcadores Genéticos , Genoma Humano , Humanos , Escala de Lod , Persona de Mediana Edad , Grupos Minoritarios , Fenotipo , Población Blanca/genética
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