Mosaic trisomy 22: report of a patient with normal intelligence.
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Child, Preschool↗
Biomedical subjects
Luisa Florez
Publications and source records attributed to Luisa Florez.
De novo paracentric inversion (X)(q26q28) with features mimicking Prader-Willi syndrome.
Different genetic and non-genetic disorders, including several chromosomal abnormalities, may mimic Prader-Willi syndrome (PWS). We report on an 11-year-old girl with features reminiscent of PWS due to an unreported de novo paracentric inversion Xq26q28. Microdeletion 15q11-q13 and maternal uniparental disomy 15 were ruled out. The importance of chromosomal studies in addition to molecular analysis on patients with features suggestive of PWS is stressed.
Child↗
EXIT procedure: a case report.
The EXIT (Ex-Utero Intrapartum Treatment) procedure is an extremely valuable tool in providing time to secure the airway in infants with large fetal neck masses and abnormalities of the upper airway which impede resuscitation. The fetus is partially delivered while maintaining utero-placental-fetal circulation. We report the use of this technique in a case of huge cystic hygromas of the neck and chest due to a nuchal bleb-lethal dysplasia. Although severe pulmonary hypoplasia precluded an optimal outcome, this report shows that this procedure is technically feasible. We believe this to be the first case performed and reported in Louisiana.
Abnormalities, Multiple↗
Epstein-Barr virus-associated gastric carcinoma in Cali, Colombia.
To estimate the incidence of Epstein-Barr virus-associated gastric carcinoma (EBV-GC) in Colombia and to clarify its clinicopathological features, we examined 178 consecutive gastric carcinoma cases, diagnosed during the period from 1996 to 1998, at Hospital Universitario del Valle in Cali, Colombia. The mean age of the cases was 60 years in males and 58 years in females. Using in situ hybridization assay of EBV-encoded small RNA-1 in paraffin-embedded tissue samples, we identified 23 cases of EBV-GC (13%). After excluding remnant carcinoma, which was found to be EBV-negative in this series, there were 19 (18%) male and 4 (6%) female EBV-GC cases, and the male predominance was statistically significant (P=0.004). The proportion of EBV-GCs decreased with age (P for trend = 0.022). Using sex- and age-specific proportions of EBV-GCs estimated by logistic models and gastric cancer incidence in Cali, which was obtained from tumor registry during the period 1987-1991, we estimated sex- and age-specific incidence of EBV-GCs. The incidence of EBV-GCs (per 100,000 person-years) was 4.1 and 1.4 among men and women, respectively, after age adjustment using the standard world population. Pathological features of EBV-GCs were also examined. EBV-GCs accounted for 33% (8/24) of carcinomas located in the stomach cardia, 14% (6/43) of carcinomas in the middle-part of the stomach, and 7% (6/81) of carcinomas in the antrum. The difference by tumor location was statistically significant (P=0.009). Histology-specific analysis using Lauren classification revealed that the proportion of EBV-GCs was not different in intestinal- and diffuse-type carcinomas (13% in both types). When the classification scheme of the Japanese Research Society for Gastric Cancer was used, EBV-GCs were identified more frequently in moderately differentiated tubular adenocarcinoma, and solid poorly differentiated adenocarcinoma when compared to other histological types. No lymphoepitelioma-like histology was found in the present series. The frequency of EBV-GC was slightly higher in advanced tumors, which involved serosa. Further analysis of clinico-pathological features of EBV-GC using a larger number of cases would give invaluable insights into its etiology.
Adenocarcinoma↗