Genetics of gene expression characterizes response to selective breeding for alcohol preference.

Numerous selective breeding experiments have been performed with rodents, in an attempt to understand the genetic basis for innate differences in preference for alcohol consumption. Quantitative trait locus (QTL) analysis has been used to determine regions of the genome that are associated with the behavioral difference in alcohol preference/consumption. Recent work suggests that differences in gene expression represent a major genetic basis for complex traits. Therefore, the QTLs are likely to harbor regulatory regions (eQTLs) for the differentially expressed genes that are associated with the trait. In this study, we examined brain gene expression differences over generations of selection of the third replicate lines of high and low alcohol-preferring (HAP3 and LAP3) mice, and determined regions of the genome that control the expression of these differentially expressed genes (de eQTLs). We also determined eQTL regions (rv eQTLs) for genes that showed a decrease in variance of expression levels over the course of selection. We postulated that de eQTLs that overlap with rv eQTLs, and also with phenotypic QTLs, represent genomic regions that are affected by the process of selection. These overlapping regions controlled the expression of candidate genes (that displayed differential expression and reduced variance of expression) for the predisposition to differences in alcohol consumption by the HAP3/LAP3 mice.

Epithelial salivary glands neoplasms in children and adolescents: a forty-four-year experience

Epithelial neoplasms of salivary gland origin are relatively uncommon in children and adolescents. Over a 44-year period, there were 38 cases affecting children under 19 years of age in our Pediatric Hospital-Based Tumor Registry. Medical charts of 38 patients with epithelial neoplasms of salivary glands were reviewed. Data collected included demographic, clinical, and histological characteristics. Statistical analysis included descriptive statistics, Student t-test, and Kaplan-Meier method was used for survival analysis. The mean age was 11.8 years. There was a female preponderance of 1.9:1. The parotid gland was affected in most cases (65.8%). Twenty-seven patients had malignant tumors and eleven patients presented benign neoplasms. Pleomorphic adenoma was the most frequent benign tumor (7 out of 11) and mucoepidermoid carcinoma was the most frequent malignancy (17 out of 27). Five-year overall survival rate was 81.6% for patients with malignant tumors. Grade of differentiation was the only significant prognostic factor for patients with mucoepidermoid carcinomas. Epithelial salivary gland tumors are very rare in children. Surgery is the best option to achieve high cure rates and radiotherapy must have precise indications because of their long-term side effects in young age.

Esophageal carcinoma secondary to a chemical injury in a child.

Twin sisters were clinically and endoscopically followed due to chemical injuries to the esophagus after ingestion of muriatic acid at 10 months of age. One of the girls developed esophageal carcinoma 10 years later and died after esophagectomy because of progression of the disease. Her twin sister has a severe stenosis at the distal esophagus and is waiting for surgical treatment. Malignization of a chemical injury to the esophagus in a child has not yet been described in the literature, emphasizing the role of endoscopic follow-up with periodic biopsies.

Experience with six children with fetal rhabdomyomatous nephroblastoma: review of the clinical, biologic, and pathologic features.

BACKGROUND: Fetal rhabdomyomatous nephroblastoma (FRN) is a rare variant of Wilms tumor. MATERIALS AND RESULTS: One hundred and thirty two children with kidney tumors were seen at our hospital from 1985 to 1993. Among them were 6 (4.5%) who had FRNs. Five were boys aged 8 months to 3 years; the girl was 17 months old. Three of the four with unilateral disease had tumors so large that they were considered unresectable at diagnosis. Five received pre-operative chemotherapy and three also received pre-operative radiation therapy. None of the tumors responded. Both patients with bilateral tumors died of progressive disease. Three of the four patients with unilateral disease followed for at least one year are alive for 1 to 10 years after diagnosis. CONCLUSIONS: FRN should be in the differential diagnosis of huge kidney tumors in children, and preoperative therapies escalated with caution since FRN is not responsive to treatment used for classic Wilms tumor.

Experience with six children with fetal rhabdomyomatous nephroblastoma: review of clinical, biologic, and pathologic features

Fetal rhabdomyomatous nephroblastoma (FRN) is a rare variant of Wilms tumor. One hundred and thirty two children with kidney tumors were seen at our hospital from 1985 to 1993. Among them were 6 (4.5%) who had FRNs. Five were boys aged 8 months to 3 years; the girl was 17 months old. Three of the four with unilateral disease had tumors so large that they were considered unresectable at diagnosis. Five received pre-operative chemotherapy and three also received pre-operative radiation therapy. None of the tumors responded. Both patients with bilateral tumors died of progressive disease. Three of the four patients with unilateral disease followed for at least one year are alive for 1 to 10 years after diagnosis. FRN should be in the differential diagnosis of huge kidney tumors in children, and preoperative therapies escalated with caution since FRN is not responsive to treatment used for classic Wilms tumor.

Epidemiological and clinical correlations with genetic characteristics of Wilms' tumor: results of the Brazilian Wilms' Tumor Study Group.

The epidemiological and clinical features of Wilms' tumor (WT) were analyzed in 176 patients admitted to the Brazilian WT Study Group. The occurrence of congenital anomalies (9.1%) and the M:F ratio (0.83) were comparable to those observed by the US National WT Study and the International Society of Pediatric Oncology trials. Bilateral cases were younger on average than unilateral cases (37.2 vs. 45.0 months). Ethnic group and gender were also associated with age, with non-white children being generally older (46.1 months) than whites (39.5 months), and boys being younger than girls (37.0 vs. 46.1 months). However, the most important factor in association with age at diagnosis was disease stage. No early disease patients were diagnosed after 8 years of age (mean: 37.5 months), whereas 10% of those with advanced disease were diagnosed between the ages of 8 and 10 years (mean: 56.3 months). There were no clear distinctions in age distributions on the basis of the presence of tumor multicentricity, intra- or perilobar nephroblastomatosis, and of a combination of putative genetic determinants. The mean age at diagnosis for cases with congenital defects was higher than that for the remaining patients. Some of the study results are in support of the recessive oncogene model for WT. However, the possible confounding effect of disease stage and the strong interdependence of the remaining factors may be masking important relations in regard to mutational events occurring during embryogenesis.

Renal tumors in children under one year of age.

Among 202 primary renal tumors of childhood collected over 33 year period, 22 (10.8%) occurred in children under one year of age. Fifteen were of classic triphasic Wilms' tumor. Three were partially cytodifferentiated variants of Wilms' tumor. The remaining 4 cases were distributed among the mesenchymal renal tumors: congenital mesoblastic nephroma, cellular mesoblastic nephroma, clear cell sarcoma and malignant rhaboid tumor. The morphology of these tumors is presented. Our findings and the review of the literature show the wide morphologic spectrum of these neoplasms and the importance of recognizing them as distinct clinicopathologic entities.

Fetal rhabdomyomatous nephroblastoma. Report of a case with unusual clinical behavior.

The authors report a case of fetal rhabdomyomatous nephroblastoma that presented pulmonary metastases at diagnosis, a feature infrequently observed in this type of tumor.

Fetal rhabdomyomatous nephroblastoma: report of a case with unusual clinical behavior

The authors report a case of fetal rhabdomyomatous nephroblastoma that presented pulmonary metastases at diagnosis, a feature infrequently observed in this type of tumor.

Adiponecrose do recem-nascido: apresentacao de dois casos. / Adiponecrosis in newborn infants: presentation of 2 cases

Os autores apresentam dois casos de adiponecrose do recem-nascido em duas criancas: uma menina de 2 meses e um menino de 32 dias.Trata-se de patologia caracterizada por areas endurecidas no tecido subcutaneo com formacao de nodulos irregulares e de consistencia dura, localizando-se em proeminencias osseas da face, ombros, membros superiores, nadegas e membros inferiores. Histopatolicamente ocorreu necrose subcutanea gordurosa, com celulas gigantes de tipo corpo estranho e deposito de cristal. Foi feito um diagnostico diferencial com a paniculite ao frio e esclerema neonatorum. A importancia da apresentacao baseia-se na raridade; na evolucao benigna sem tratamento especifico; no fato de ter sido evitada terapeutica intempestiva (corticoterapia) devido ao pouco conhecimento sobre a entidade