Search results for "Pathology and Forensic Medicine"

Retinal ultrastructure of neuronal ceroid-lipofuscinosis in the Dalmatian dog

1985

Ultrastructural studies of the retinae in two NCL-affected Dalmatian dogs revealed ubiquitous accumulation of lipopigments in numerous cell types of the retina, the fine structure of which closely resembled that seen in NCL-affected English setters. Photoreceptors and other retinal cell types were largely intact. These findings show that the retinal involvement in NCL of our Dalmatian dogs is identical to that of NCL-affected English setters. It also shows that in canine NCL a severe retinopathy, regularly encountered in human childhood NCL, does not develop. Thus, the NCL of Dalmatian dogs —and English setters — represents a reliable model to study human NCL, but for human retinopathia pig…

PGC-1α signaling coordinates susceptibility to metabolic and oxidative injury in the inner retina.

2013

Retinal ganglion cells (RGCs), used as a common model of central nervous system injury, are particularly vulnerable to metabolic and oxidative damage. However, molecular mechanisms underlying this sensitivity have not been determined in vivo . PGC-1α (encoded by PPARGC1A ) regulates adaptive metabolism and oxidative stress responses in a tissue- and cell-specific manner. Aberrant PGC-1α signaling is implicated in neurodegeneration, but the mechanism underlying its role in central nervous system injury remains unclear. We provide evidence from a mouse model that PGC-1α expression and activity are induced in adult retina in response to metabolic and oxidative challenge. Deletion of Ppargc1a d…

Missing Evidences in Cancer Genetics: The Retinoblastoma Paradigm

2008

BACKGROUND: Retinoblastoma (Rb) is the most common primary malignant intraocular tumour in childhood. The "two hit" theory, formulated by Knudson in 1971 to explain the variegated clinical expression of the disease, led to the discovery of the so called tumour suppressor genes and the identification of the Rb1 as the prototype of such genes. Mutations of the Rb1 gene are now commonly believed to be the "cause" retinoblastoma, although epidemiological, clinical, and biological evidences argue against it. MATERIAL/METHODS: The Authors have performed a systematic review of available data concerning clinical and diagnostic aspects of retinoblastoma, including molecular genetics. Meta analysis o…

Controversial issues in soft tissue solitary fibrous tumors: A pathological and molecular review

2019

The clinical evolution of solitary fibrous tumor (SFT) remains unclear. Although various clinical, morphological and molecular criteria may indicate increased risk of malignancy, some SFT can still progress despite having a clearly benign appearance. Various risk stratification systems have been proposed, but unfortunately they are not sufficient to precisely determine the malignant potential. In this review, we discuss current knowledge on SFT, focusing on the following controversial issues: (i) the diverse morphologic spectrum: 'the great simulator;' (ii) malignant transformation or dedifferentiation; (iii) current risk stratification systems; and (iv) molecular factors associated with cl…

A tribute to Juan Rosai

2021

On July 7, 2020 the world of Surgical Pathology lost one of the brightest minds ever: Prof. Juan Rosai.It certainly happened to many of us while approaching a difficult case to exclaim: - This is a case for Juan Rosai! This simple expression synthesizes the legend that was created around him.Those who knew him personally were  undoubtedly amazed by his diagnostic insight, exceptional memory and organizational skills.However, his vast culture and passions were not limited to medicine, but ranged to music, literature and the world of sports, especially football.We worked with him in his last years of activity and want to share with the communities of pathologists our warm feelings about this …

On the orientational analysis of planar fibre systems from digital images

2002

The orientational characteristics of fibres in digital images are studied. The fibres are modelled by a planar Boolean model whose typical grain is a thick (coloured) fibre. The aim is to make stereological inference on the rose of directions of the unobservable central fibres from observations made on a digital image of the thick fibres. For central fibres, the relation between the rose of directions and the point intensity, observed on a sampling line, is known. We derive, under regularity conditions, the relation between the unobservable point intensity and the scaled variogram observed on the line in a binary and a greyscale image. Using such a relation, it is possible to draw inference…

Tissue-specific mosaicism in a patient with Rubinstein–Taybi syndrome and CREBBP exon 1 duplication

2019

Leptin and Its Receptor are Overexpressed in Brain Tumors and Correlate with the Degree of Malignancy

2009

Although leptin and its receptor (ObR) have emerged as important cancer biomarkers, the role of the leptin system in brain tumor development remains unknown. We screened 87 human brain tumor biopsies using immunohistochemistry and detected leptin and ObR in 55.2% and 60.9% cases, respectively. In contrast, leptin and ObR were absent in 14 samples of normal brain tissue. The presence of leptin correlated with ObR with overall concordance 80.5%. The leptin/ObR system was highly expressed in glioblastomas and anaplastic astrocytomas, while lower expression of both markers was noted in low-grade astrocytomas and gangliogliomas. The association between leptin/ObR and the degree of tumor malignan…

The Lady from Basel's Barfüsserkirche - Molecular confirmation of the Mummy's identity through mitochondrial DNA of living relatives spanning 22 gene…

2021

Abstract The identity of the mummified Lady from the Barfusser Church in Basel, Switzerland has been unsolved for decades, despite the prominent location of the burial place in front of the choir screen. A recent multidisciplinary research approach came up with a possible candidate, Anna Catharina Bischoff who died in Basel in 1787 with an age of 69 years (1719–1787). To verify the identity of the mummy, genealogists of the Citizen Science Basel discovered three living individuals of the maternal lineage of two different family branches, separated from Anna Catharina Bischoff by up to 22 generations. In this study we compare the ancient mitochondrial DNA of the mummy recovered from a premol…

The Image Gently in Dentistry campaign: promotion of responsible use of maxillofacial radiology in dentistry for children

2014

© 2014 Published by Elsevier Inc. The Image Gently in Dentistry campaign to be launched in September 2014 is a specific initiative of the Alliance for Radiation Safety in Pediatric Imaging, supported by organized dentistry and dental education as well as many dental specialty organizations. The objective of the campaign is to change practice by increasing awareness of the opportunities to improve radiation protection when imaging children in dental practices. Six practical steps are provided that underline the principle that one size does not fit all, especially when it comes to using radiography during pediatric dental procedures. When we image children, let us image gently: More is often …