Altered T cell receptor beta repertoire patterns in pediatric ulcerative colitis.

The antigenic specificity of T cells occurs via generation and rearrangement of different gene segments producing a functional T cell receptor (TCR). High-throughput sequencing (HTS) allows in-depth assessment of TCR repertoire patterns. There are limited data concerning whether TCR repertoires are altered in inflammatory bowel disease. We hypothesized that pediatric ulcerative colitis (UC) patients possess unique TCR repertoires, resulting from clonotypical expansions in the gut. Paired blood and rectal samples were collected from nine newly diagnosed treatment-naive pediatric UC patients and four healthy controls. DNA was isolated to determine the TCR-ß repertoire by HTS. Significant clonal expansion was demonstrated in UC patients, with inverse correlation between clinical disease severity and repertoire diversity in the gut. Using different repertoire variables in rectal biopsies, a clear segregation was observed between patients with severe UC, those with mild-moderate disease and healthy controls. Moreover, the overlap between autologous blood-rectal samples in UC patients was significantly higher compared with overlap among controls. Finally, we identified several clonotypes that were shared in either all or the majority of UC patients in the colon. Clonal expansion of TCR-ß-expressing T cells among UC patients correlates with disease severity and highlights their involvement in mediating intestinal inflammation.

Antenatal sonographic diagnosis of testicular torsion.

Antenatal testicular torsion is a well-established condition diagnosed and treated after birth. This report describes the antenatal diagnosis of testicular torsion with surgical and pathological confirmation. Antenatal and postnatal sonographic findings included enlarged testis and epipdidymis surrounded by hemorrhagic fluid organized in two concentric compartments ('double ring hemorrhage' image). A contralateral hydrocele with bulging of the scrotal septum towards the unaffected side were also present. Pathological examination demonstrated a recent extravaginal torsion, which is the predominant mechanism for testicular torsion in the fetus and neonate. Recognition of this phenomenon and the ultrasonographic images associated with it may enable the diagnosis of antenatal testicular torsion to be made on prenatal sonography of the fetus.

Intratumoral heterogeneity of DNA ploidy in breast carcinomas: a flow cytometric assessment of sampling techniques.

Intratumoral heterogeneity of DNA ploidy has been identified in breast carcinomas; however, optimal sampling methods have not been determined. In this study of 28 invasive breast carcinomas measuring more than 1.4 cm in greatest dimension, two different techniques for obtaining cells for flow cytometric DNA ploidy analysis were compared. Two solid pieces of tissue were taken from opposite halves of the tumor. A third sample was obtained by scraping multiple cut surfaces of the tumor. Heterogeneity of DNA ploidy was detected in 43% of cases. Most cases demonstrating heterogeneity contained multiple aneuploid populations. However, in five cases classification of the tumors as either DNA euploid or DNA aneuploid differed among samples. A total of 39 non-diploid populations were detected in 23 of the cases. Thirty-three (85%) were detected by scraping and 35 (90%) were detected in either one or both tissue pieces. Intratumoral DNA heterogeneity emphasizes the need for adequate sampling. The scraping technique was as effective in identifying aneuploid cell populations as the combined results of the two pieces of tissue and better than sampling a single piece of tissue. Scraping also offers the advantage of tissue conservation which may be critical when various analytic studies are performed.

An unusual cystic lesion histologically similar to autosomal dominant polycystic kidney disease in a child with aniridia and del 11p13.

The association of Wilms tumor with an interstitial deletion on the short arm of chromosome 11 is well established. Specifically, the 11p13 band has been implicated in the syndrome of Wilms tumor, aniridia, genitourinary abnormalities and mental retardation. Only rarely have other renal lesions been associated with the chromosomal abnormality del 11p13. We report a case of a segmental cystic lesion, histologically akin to autosomal dominant polycystic kidney disease, in a child with aniridia and the del (11)(p12p14) karyotype.