Search results for "aplasia"

VATER/VACTERL association: clinical variability and expanding phenotype including laryngeal stenosis.

1992

Vertebral abnormalities and anorectal and tracheoesophageal defects are the main manifestations in the VATER/VACTERL association. Radial defects vary from radial aplasia to thumb duplication. Heart and renal defects are reported with lower frequency. Additional malformations, such as the laryngeal stenosis described in the present patient, may expand the phenotype of the association. The wide spectrum of congenital abnormalities confirms the high clinical variability of VATER/VACTERL association which seems to be due to a disruption of blastogenesis. © 1992 Wiley-Liss, Inc.

Early miR-223 Upregulation in Gastroesophageal Carcinogenesis

2017

Objectives: To test miR-223 upregulation during gastric (intestinal-type) and Barrett esophageal carcinogenesis. Methods: miR-223 expression was assessed by quantitative reverse transcription polymerase chain reaction in a series of 280 gastroesophageal biopsy samples representative of the whole spectrum of phenotypic changes involved in both carcinogenetic cascades. The results were further validated by in situ hybridization on multiple tissue specimens obtained from six surgically treated gastroesophageal adenocarcinomas. miR-223 expression was also assessed in plasma samples from 30 patients with early stage (ie, stages I and II) gastroesophageal adenocarcinoma and relative controls. Res…

Hiatal hernia, gastro-oesophageal reflux and oesophagitis: videofluorographic, endoscopic and histopathological correlation

2004

The aim of the study was to evaluate the correlation between hiatal hernia and gastro-oesophageal reflux and related histological abnormalities in patients without endoscopic oesophagitis. A consecutive series of 78 patients with a history of gastro-oesophageal reflux symptoms and hiatal hernia, as defined by videofluorography combined with a water siphon test, underwent oesophagogastroduodenoscopy and multiple biopsies. Hiatal hernia was confirmed endoscopically in 99% of cases. The water siphon test was positive for reflux in 72% of cases. At endoscopy 42% of patients had oesophagitis and/or Barrett's oesophagus and 58% had no lesions. In the group without endoscopic lesions, at histology…

Aplasia e hipoplasia del nervio auditivo : correlación anatómico-funcional

2014

La hipoacusia neurosensorial es uno de los problemas más frecuentes que afectan al recien nacido, llegando a afectar a entre 1,5 y 6 niños por cada 1000 recien nacidos vivos (Domínguez, 2011). Aunque la pérdida auditiva puede originarse en cualquier lugar de la vía auditiva es de todos conocido que la afectación más frecuente ya sea de causa congénita o adquirida se va a localizar a nivel coclear y en concreto a nivel de la célula ciliada. Estudios recientes sugieren que la disfunción del nervio auditivo (neuropatía auditiva) puede estar implicada hasta en el 1-10% de los casos de hipoacusia neurosensorial en niños, siendo menos frecuentes las pérdidas auditivas por alteración anatómica del…

Salivary gland tumors in patients with necrotizing sialometaplasia: a case series

2013

Tumor Control in a Model of Bone Marrow Transplantation and Acute Liver-Infiltrating B-Cell Lymphoma: an Unpredicted Novel Function of Cytomegalovirus

2002

ABSTRACTTumor relapse and cytomegalovirus (CMV) infection are major concerns in the therapy of hematopoietic malignancies by bone marrow transplantation (BMT). Little attention so far has been given to a possible pathogenetic interplay between CMV and lymphomas. CMV inhibits stem cell engraftment and hematopoietic reconstitution. Thus, by causing maintenance of bone marrow aplasia and immunodeficiency, CMV could promote tumor relapse. Alternatively, CMV could aid tumor remission. One might think of cytopathogenic infection of tumor cells, induction of apoptosis or inhibitory cytokines, interference with tumor cell extravasation or tumor vascularization, or bystander stimulation of an antitu…

Third International Congress of Histochemistry and Cytochemistry

1968

The tissue distribution of enzymatic activities in intestinal metaplasia stomachs exhibiting chronic gastritis was compared histochemically with that of the small intestine in man.

Microdeletion 22q11 in complex cardiovascular malformations.

1997

Besides DiGeorge, velocardiofacial and conotruncal anomaly face syndromes, some of the isolated congenital heart diseases have also been associated with a chromosomal deletion in 22q11. These disease entities, which had originally been considered to have a different genetic background, are now included in the CATCH-22 microdeletion complex. CATCH 22 is an acronym for cardiac defect, abnormal facies, thymic hypoplasia or aplasia and T-cell deficiency, cleft palate, hypoparathyroidism, and hypocalcemia. In the present study, we focused on the complex cardiovascular defects (CCVD) and screened 40 patients for a microdeletion of 22q11 by fluorescence in situ hybridization using the D22S75 DNA p…

Abstract 3512: MYCN and survivin cooperatively contribute to malignant transformation of fibroblasts

2014

Abstract The oncogenes MYCN and survivin (BIRC5) maintain aggressiveness of diverse cancers including sarcomas. To investigate whether these oncogenes cooperate in initial malignant transformation, we transduced them into Rat-1 fibroblasts. Indeed, survivin enhanced MYCN-driven contact-uninhibited and anchorage-independent growth in vitro. Importantly, upon subcutaneous transplantation into mice, cells overexpressing both instead of either one of the oncogenes generated tumors with shortened latency, marked anaplasia and an increased proliferation-to-apoptosis ratio resulting in accelerated growth. Mechanistically, the increased tumorigenicity was associated with an enhanced Warburg effect …

Immunohistochemical characterization of endometriosis-associated smooth muscle cells in human peritoneal endometriotic lesions

2011

Background Smooth muscle cells (SMC) are common components of endometriotic lesions. SMC have been characterized previously in peritoneal, ovarian and deep infiltrating endometriotic lesions and adenomyosis. The aim of this retrospective study was to investigate the extent of differentiation in endometriosis-associated SMC (EMaSMC) in peritoneal endometriotic lesions. Methods We obtained biopsies from peritoneal endometriotic lesions (n = 60) and peritoneal sites distant from the endometriotic lesion (n = 60), as well as healthy peritoneum from patients without endometriosis (control tissue, n = 10). These controls were hysterectomy specimens from patients without endometriosis or adenomyos…