Search results for " DIAGNOSIS"

Recommendations for neonatologists and pediatricians working in first level birthing centers on the first communication of genetic disease and malfor…

2021

Abstract Background Genetic diseases are chronic conditions with relevant impact on the lives of patients and their families. In USA and Europe it is estimated a prevalence of 60 million affected subjects, 75% of whom are in developmental age. A significant number of newborns are admitted in the Neonatal Intensive Care Units (NICU) for reasons different from prematurity, although the prevalence of those with genetic diseases is unknown. It is, then, common for the neonatologist to start a diagnostic process on suspicion of a genetic disease or malformation syndrome, or to make and communicate these diagnoses. Many surveys showed that the degree of parental satisfaction with the methods of c…

Imaging of Substantia Nigra in Parkinson's Disease: A Narrative Review.

2021

Parkinson’s disease (PD) is a progressive neurodegenerative disorder, characterized by motor and non-motor symptoms due to the degeneration of the pars compacta of the substantia nigra (SNc) with dopaminergic denervation of the striatum. Although the diagnosis of PD is principally based on a clinical assessment, great efforts have been expended over the past two decades to evaluate reliable biomarkers for PD. Among these biomarkers, magnetic resonance imaging (MRI)-based biomarkers may play a key role. Conventional MRI sequences are considered by many in the field to have low sensitivity, while advanced pulse sequences and ultra-high-field MRI techniques have brought many advantages, partic…

Quantification of the heterogeneity of prognostic cellular biomarkers in ewing sarcoma using automated image and random survival forest analysis

2014

Driven by genomic somatic variation, tumour tissues are typically heterogeneous, yet unbiased quantitative methods are rarely used to analyse heterogeneity at the protein level. Motivated by this problem, we developed automated image segmentation of images of multiple biomarkers in Ewing sarcoma to generate distributions of biomarkers between and within tumour cells. We further integrate high dimensional data with patient clinical outcomes utilising random survival forest (RSF) machine learning. Using material from cohorts of genetically diagnosed Ewing sarcoma with EWSR1 chromosomal translocations, confocal images of tissue microarrays were segmented with level sets and watershed algorithm…

Immunohistochemical detection of early myocardial infarction: a systematic review

2017

The postmortem diagnosis of early myocardial infarction is a challenge for forensic pathologists because the routine histology is neither specific. Many authors have suggested the use of the immunohistochemistry to fill the gaps in the histological diagnosis of early myocardial infarction. This review aims to analyse advances of immunohistochemical detection of early cardiac damage due to ischaemia. To this purpose, we reviewed experimental studies that investigated immunohistochemical markers and their estimated timing of expression. The review was performed according to specific inclusion and exclusion criteria, and a total of 23 studies assessing the immunohistochemical markers for the d…

Ultrastructure of one Ewing's sarcoma of bone with endothelial character and a comparative review of the vessels in 27 cases of typical Ewing's sarco…

1980

An atypical variant of Ewing's sarcoma, located in the left hip of a nine-year-old girl, is discussed at optical, histochemical and electron microscopical level. The endothelial appearing cells seem to play a main role in its histogenesis. Tumoral cells of an undifferentiated blastemic nature show round nuclei and bright lucent cytoplasm, being organized in solid sheets or vascular-like profiles. Alkaline and acid phosphatases are very prominent in all tumoral cells, and some of them also show PAS positive material. Its ultrastructure demonstrates an active pinocytic capacity, cytoplasmic filaments and Weibel-Palade bodies. Simultaneously a review is performed on 27 cases of typical Ewing's…

Clinical and histological diagnosis of a case of familial adult metachromatic leucodystrophy

1974

Die detaillierte nosographische Analyse eines 25jahrigen Patienten mit adulter metachromatischer Leukodystrophie wird mitgeteilt. Der Patient zeigt langsam progrediente psychische, charakterliche, intellektuelle, zentralund periphernervose Veranderungen. — Die biochemische Diagnostik ergab einen weitgehenden Arylsulfatase A-Mangel in Urin und Leukocyten sowie eine erhohte Sulfatidausscheidung im Urin (2–7 mg je Liter). — Durch histochemische Untersuchungen einer Nervus suralis-Biopsie wurde metachromatisches Speichermaterial nachgewiesen.

G.P.16.04. Branching enzyme deficiency should be considered in the differential diagnosis of severe congenital hypotonia

2008

Oral bilateral collagenous fibroma : a previously unreported case and literature review

2018

Collagenous fibroma, also known as desmoplastic fibroblastoma, is a rare benign slow growing tumor particularly uncommon in the oral cavity. The aim of this study was to analyze the clinical and histopathological features of an oral collagenous fibroma as well as to compare this data with those reported in an English-literature review. The thirteenth case of collagenous fibroma in the oral cavity and the first to present clinically as a bilateral mass was described. A 48-years-old female patient was referred to a School of Dentistry, complaining about an asymptomatic swelling on the hard palate, lasting around ten years. The intraoral examination revealed two well-defined mass, bilaterally …

Primary intraosseous squamous cell carcinoma arising in dentigerous cyst: Report of 2 cases and review of the literature

2015

Dentigerous cysts are one of the most common odontogenic cysts of the oral cavity. Odontogenic cysts can give rise to a variety of neoplasms. Carcinoma arising in a dentigerous cyst is extremely rare, with a review of literature showing near 30 cases. The present report describes 2 cases of primary intraosseous squamous cell carcinoma originated from a dentigerous cyst. The first one refers to a 57-year old female with a persistent lesion in the left retromolarregion and diagnosed with squamous cell carcinoma originated fromthe incomplete excision of the lower third molar follicle during its surgical extraction. The second case describes the case of an 18-year old male with an impacted uppe…

Epitheloid Hemangioendothelioma of the Scalp

1985

A case of an epitheloid hemangioendothelioma of the skin and subcutaneous tissue of the scalp is described. Clinically and histologically a (metastatic) carcinoma had been considered in differential diagnosis. Of great help in recognition of the endothelial nature of this tumor was the immunohistochemical reaction with Factor-VIII associated antigen and Ulex europaeus antigen. Not only tumor cells in solid areas, but also intracytoplasmic vacuoles revealed positive staining. Thereby it could be shown, that this paranuclear vacuoles are actually compatible with developing capillary lumina. Only few tumor cells showed positive reaction with alpha-1-antichymotrypsin, pointing to a possible sma…