Forty consecutive patients with Ullrich-Turner syndrome (UTS) were followed-up and investigated for the presence of Y chromosome fragments in their genomes. We used the polymerase chain reaction (PCR) to detect SRY (sex-determining region on the Y chromosome) and the sequence-tagged sites (STS) sY57, sY59, sY85, sY94, sY124 and sY157--which correspond to regions 3C (sY57 and 59), 5C, 5G, 5P, and 6F, respectively, of the Y chromosome--searching for Y fragments that could bear the putative locus (loci) for gonadoblastoma (GBY). It has been shown that the presence of GBY greatly increases the risk of dysgenic gonads to undergo malignant transformation. Among our 40 patients, we found Y-derived sequences--including SRY and the region spanning from sY57 to sY94--in two. These two patients had a marker chromosome detected by conventional cytogenetic analysis (45,X/46,X + mar). Their gonads were excised and found to be streaks. In one of the patients, we found foci of primitive sex cords (amidst the gonadal stroma), oviducts and Wolffian remnants. Fluorescence in situ hybridization (FISH) did not show Y chromosome material in her gonad-derived fibroblasts. The other girl had hyperplastic Leydig cells in the gonadal stroma, oviducts and Wolffian remnants, with signs of epididymal differentiation. PCR assays performed on DNA extracted from paraffin-embedded gonadal tissue were negative for SRY sequences in both patients. These findings show that all UTS patients should be examined for Y chromosome material, and that positive cases should have their dysgenic gonads excised due to the high risk of malignancy.
Our findings showed that there was no difference in the concentrations of tryptase in nasal lavage fluids between the two studied groups. However, the children from the urban area presented with higher concentrations of eosinophil cationic protein than did those from the rural area. Also, the urban children who were sensitized to aeroallergens presented with greater concentrations of eosinophil cationic protein in nasal mucosa than the non-sensitized children, while this difference was not observed among the rural children.
RATIONALE: The Bronx bears the heaviest asthma burden of all New York State counties. The Montefiore Asthma Center (MAC) is a teambased approach that evaluates and treats adults and children in the Bronx. This study evaluates if MAC patients experienced improvements in asthma utilization compared to patients that received primary care provider (PCP)based asthma care. METHODS: Through our institution's EMR, we identified patients with physician-diagnosed asthma and with an asthma ED visit and/or hospitalization in the year before the initial ('index') outpatient asthma visit. Patients evaluated at the MAC were 'cases' and non-MAC patients were 'controls'. MAC cases received multidisciplinary care (joint management by Allergists, Pulmonologists, and an asthma educator), while controls received PCP-based asthma management and nurse-delivered remote outreach (three monthly asthma education phone calls). We performed exact matching between the cases and controls per the numbers of asthma ED visits and hospitalizations in the year before the index visit, and compared asthma utilization in the 1 year before and after the index visit. RESULTS: Patient identification and matching yielded 55 MAC and 55 controls, including 43 children and 12 adults in each group. The MAC resulted in significant decreases (-53.8%, p50.03) in asthma hospitalizations, and significant increases (5.4%, p50.01) in asthma office visits. The MAC and control groups were similarly impacted regarding asthma ED visits. CONCLUSIONS: The MAC was successful in reducing asthma hospitalizations, although remote nursing support combined with PCP-based care can positively impact asthma utilization. Larger randomized studies are necessary to further evaluate these findings.
Abstracts AB97
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