Search results for "Pathological"
showing 10 items of 443 documents
Holoprosencephaly: examples of clinical variability and etiologic heterogeneity.
1990
Clinical variability and causal heterogeneity of holoprosencephaly is discussed in relation to several newborn infants with cyclopia (cases 4,5,6), cebocephaly (cases 2,3), and premaxillary agenesis (case 1). In subjects with holoprosencephaly, the presence of multiple malformations is an indicator of concomitant chromosome aberrations, as in present case 1 (Down syndrome) and case 3 (trisomy 13). Cases 5 and 6 are two monozygotic twins with the same type of cyclopia and alobar holoprosencephaly recognized by prenatal ultrasonography. The diagnostic importance of ultrasonographic, cytogenetic, and pathological studies is pointed out in view of etiologic evaluation, genetic counseling, and p…
Polymorphisms in endothelin system genes, arsenic levels and obesity risk.
2015
Background/objectivesObesity has been linked to morbidity and mortality through increased risk for many chronic diseases. Endothelin (EDN) system has been related to endothelial function but it can be involved in lipid metabolism regulation: Receptor type A (EDNRA) activates lipolysis in adipocytes, the two endothelin receptors mediate arsenic-stimulated adipocyte dysfunction, and endothelin system can regulate adiposity by modulating adiponectin activity in different situations and, therefore, influence obesity development. The aim of the present study was to analyze if single nucleotide polymorphisms (SNPs) in the EDN system could be associated with human obesity.Subjects/methodsWe analyz…
Social Ecological Model of Problem Gambling : A Cross-National Survey Study of Young People in the United States, South Korea, Spain, and Finland
2021
Problem gambling among young people is an emerging trend globally. The online environment in particular offers various possibilities for gambling engagement. This is the first cross-national survey study using the social ecological model to analyze problem gambling, especially in the online context. The study aimed to analyze how different social ecological spheres explain problem gambling. Participants were young people aged 15–25 in the United States (n = 1212), South Korea (n = 1192), Spain (n = 1212), and Finland (n = 1200). The South Oaks Gambling Screen (SOGS) instrument measured problem gambling. The regression models analyzed problem gambling with measures of intrapersonal, interper…
Linking personality and brain anatomy: a structural MRI approach to reinforcement sensitivity theory
2019
Reinforcement Sensitivity Theory (RST) proposes a widely used taxonomy of human personality linked to individual differences at both behavioral and neuropsychological levels that describe a predisposition to psychopathology. However, the body of RST research was based on animal findings, and little is known about their anatomical correspondence in humans. Here we set out to investigate MRI structural correlates (i.e. voxel-based morphometry) of the main personality dimensions proposed by the RST in a group of 400 healthy young adults who completed the Sensitivity to Punishment and Sensitivity to Reward Questionnaire (SPSRQ). Sensitivity to punishment scores correlated positively with the gr…
An international multicentre prospective audit of elective rectal cancer surgery; operative approach versus outcome, including transanal total mesore…
2018
Introduction: Transanal total mesorectal excision (TaTME) has rapidly emerged as a novel approach for rectal cancer surgery. Safety profiles are still emerging and more comparative data is urgently needed. This study aimed to compare indications and short-term outcomes of TaTME, open, laparoscopic, and robotic TME internationally. Methods: A pre-planned analysis of the European Society of Coloproctology (ESCP) 2017 audit was performed. Patients undergoing elective total mesorectal excision (TME) for malignancy between 1 January 2017 and 15 March 2017 by any operative approach were included. The primary outcome measure was anastomotic leak. Results: Of 2579 included patients, 76.2% (1966/257…
Active Surveillance in Prostate Cancer: Role of Available Biomarkers in Daily Practice
2021
Prostate cancer (PCa) is the most commonly diagnosed cancer in men. The diagnosis is currently based on PSA levels, which are associated with overdiagnosis and overtreatment. Moreover, most PCas are localized tumours; hence, many patients with low-/very low-risk PCa could benefit from active surveillance (AS) programs instead of more aggressive, active treatments. Heterogeneity within inclusion criteria and follow-up strategies are the main controversial issues that AS presently faces. Many biomarkers are currently under investigation in this setting; however, none has yet demonstrated enough diagnostic ability as an independent predictor of pathological or clinical progression. This work a…
Detection of AA-type amyloid protein in labial salivary glands
2010
Objectives: Among the diverse forms of amyloidosis, secondary type is the most frequent one. Diagnosis of amyloid deposition is based on the identification of the fibrillary protein amyloid by means of Congo Red (CR) or crystal violet (CV) stains, but these techniques do not differentiate between the different types of amyloid fibrils. The aim of this study was to identify by immunofluorescence (IF) AA amyloid a pathological fibrillar low-molecularweight protein formed by cleavage of serum amyloid A (SAA) protein in labial salivary gland (LSG) biopsies from patients with secondary amyloidosis. Study design: 98 LSG were studied, 65 were from patients with secondary amyloidosis and 33 from su…
Analysis of human dysplastic haematopoiesis in long-term bone marrow culture
1989
In this paper we have analysed the behaviour of myelodysplastic marrow in a long-term bone marrow liquid culture system (LTBMC) from eleven patients with myelodysplastic syndromes with regard to cellularity, day-7 and day-14 CFU-GM growth, cluster formation, adherent cells and CFU-F formation. An altered CFU-GM pattern was found in 64% of cases at diagnosis, while normal growth was seen in the remaining cases, all of which were affected by refractory anaemia. The levels of CFU-GM, as well as cellularity, were reduced in myelodysplastic marrows compared to normal controls over the whole duration of LTBMCs. Cases with a normal CFU-GM level at diagnosis also showed pathological behaviour when …
Solitary Fibrous Tumor: Integration of Clinical, Morphologic, Immunohistochemical and Molecular Findings in Risk Stratification and Classification Ma…
2021
Although solitary fibrous tumors (SFTs) have an unpredictable evolution, some specific clinicopathologic factors have been associated with the final outcome. We retrieved clinical, pathological and molecular data of 97 patients with a histological diagnosis of SFT and Signal transducer and activator of transcription 6 (STAT6) positivity. We retrospectively studied the pathological factors predictive of recurrence/metastasis and compared them with the clinical outcome. A wide immunohistochemical study and molecular analysis to detect NAB2/STAT6 gene fusion, tumor protein-53 (TP53) and/or (telomerase reverse transcriptase) TERT promotor mutation were performed. The risk of metastasis was calc…
A c.1244G>A (p.Arg415Gln) mutation in SH3BP2 gene causes cherubism in a Turkish family: report of a family with review of the literature
2014
Objectives: The present study was aimed at advancing the understanding of the pathogenesis of cherubism by presenting a case study based on history, physical examination, typical radiological features, molecular and histo - pathological laboratory tests and a review of the literature. Study Design: This study began with a 7-year-old boy who was referred due to mandibular overgrowth. A pan - oramic radiograph revealed multilocular radiolucent lesions of the upper/lower jaws suggestive of cherubism. Overall, a total of four family members were tested for SH3BP2 mutations, namely two siblings and their parents. Both siblings had been clinically diagnosed with cherubism; however, the parents we…