Search results for "Autopsy"
showing 10 items of 141 documents
Neurochemical and morphological studies on demyelination in multiple sclerosis with special reference to etiological aspects.
1972
Light microscopic studies were used as control for neurochemical studies and these showed that some micro plaques could be found also in areas which were normal on visual inspection. Also foreign cell infiltrates were found outside any clear plaque material. The number of these cells did not correlate with other findings like lipid or enzyme chemistry. In electronmicroscopic studies astrocytes demonstrated most lysosomes and phagocytosis of myelin. This increased lysosomal reaction was demonstrated also in biochemical analyses performed on MS biopsy specimens. Occasional nuclear changes like inclusion bodies and protrusion of inner nuclear membrane were observed suggesting some exogenous, p…
Branching enzyme deficiency/glycogenosis storage disease type IV presenting as a severe congenital hypotonia: muscle biopsy and autopsy findings, bio…
2010
The fatal infantile neuromuscular presentation of branching enzyme deficiency (glycogen storage disease type IV) due to mutations in the gene encoding the glycogen branching enzyme, is a rare but probably underdiagnosed cause of congenital hypotonia. We report an infant girl with severe generalized hypotonia, born at 33 weeks gestation who required ventilatory assistance since birth. She had bilateral ptosis, mild knee and foot contractures and echocardiographic evidence of cardiomyopathy. A muscle biopsy at 1 month of age showed typical polyglucosan storage. The autopsy at 3.5 months of age showed frontal cortex polymicrogyria and polyglucosan bodies in neurons of basal ganglia, thalamus, …
PRENATAL DIAGNOSIS OF X-LINKED SEVERE COMBINED IMMUNODEFICIENCY (SCID) BY FLOWCYTOMETRIC INVESTIGATION OF FETAL BLOOD
1987
Prenatal diagnosis of SCID has until now been limited due to the inability of obtaining sufficient fetal blood volumes for immunological investigation. - We report the diagnosis of x-linked SCID at 19 weeks of gestation by using 200μl fetal blood for flowcytometrio evaluation. Amniocentesis was performed in the 17th week of pregnancy on a 36 year old woman with positive family history for X-linked SCID. chromosome analysis revealed a normal male caryotype. To confirm the suspected diagnosis of SCID a fetal blood sample was taken by puncturing the umbilical cord vein under sonographic control at 19 weeks of gestation. 300μl were used to perform chromosome analysis, the remaining 200μl were p…
AN ULTRASTRUCTURAL STUDY OF THE RETINA IN HUMAN LATE INFANTILE NEUROAXONAL DYSTROPHY
1993
A case involving a girl who died at 11 years of age and who had developed normally until the age of 18 months, at which time further psychomotor maturation stopped and then regressed, is reported. The patient appeared hypotonic and showed loss of deep tendon reflexes, as well as bulbar signs and increasing immobility. Visual impairment resulted in blindness at the age of 7 years. Her disease was diagnosed as late infantile neuroaxonal dystrophy (LINAD) after examination of sural nerve biopsy samples and after autopsy. Under electron microscopy, retinal axons were filled with tubulocisternal profiles and occasional large lamellar clefts close to or distant from synaptic complexes. These lesi…
Unexpected postmortem diagnosis of Acanthamoeba meningoencephalitis following allogeneic peripheral blood stem cell transplantation.
2008
Meningoencephalitis caused by pathogenic free-living amebas is usually fatal. Only a few cases of Acanthamoeba meningoencephalitis, diagnosed at autopsy, have been reported following hematopoietic stem cell transplantation. We here report a case of Acanthamoeba meningoencephalitis following allogeneic peripheral blood stem cell transplantation with rapidly evolving neurologic symptoms that remained unexplained. Magnetic resonance imaging failed to show brain lesions and cerebrospinal fluid was negative for microbiological cultures. Definite diagnosis was an unexpected autopsy finding. As overall and teaching hospital autopsy rates are declining worldwide, we must emphasize the need of autop…
Pathological Findings in COVID-19 as a Tool to Define SARS-CoV-2 Pathogenesis. A Systematic Review
2021
Introduction: The World Health Organization declared the COVID-19 pandemic in March 2020. COVID-19 still represents a worldwide health emergency, which causesa severe disease that has led to the death of many patients. The pathophysiological mechanism of SARS-CoV-2 determining the tissue damage is not clear and autopsycan be auseful tool to improve the knowledge of this infection and, thus, it can help achieve a timely diagnosis and develop an appropriate therapy. This is an overview of the main post-mortem findings reporting data on the infection effects on several organs.Methods: A systematic literature search was conducted in the PubMed database searching for articles from 1 January to A…
The Post-Lockdown Era: What Is Next in Italy?
2020
The current outbreak of the COVID-19 infection, which started in December 2019 in Wuhan (China), was declared a pandemic by the World Health Organization (WHO) on the 11th of March, 2020.
Diagnosis of aortic dissection: the value of transesophageal echocardiography.
1987
Using the transesophageal approach the descending part of the aorta can be imaged by two-dimensional enchocardiography in cross sections comparable to computer tomograms. The value of combined transesophageal and transthoracic echocardiography was evaluated in 53 patients who were studied consecutively from 1983 to 1986 with symptoms of aortic dissection and compared with computed tomography, angiography, surgery and/or autopsy. In all patients the transthoracic aorta could be visualized and the dissection could be classified according to DeBakey: in 9 of 29 patients (34%) type I dissection, in 4 (14%) type II dissection and in 16 (55%) type III dissection was found. Operation was carried o…
Ultrastructural study of the retina in late infantile metachromatic leukodystrophy.
1992
The autopsy of a 2-year-old girl revealed a clinically unrecognized metachromatic leukodystrophy (MLD) due to an aryl-sulfatase A deficiency, characteristically affecting the central and peripheral nervous system by demyelination and by accumulation of metachromatic material. The retina though reported clinically as normal, showed the same demyelinating process in the optic nerve including the papilla but an additional intraneuronal storage of MLD-typical lysosomal residual bodies in ganglion cell perikarya of the retina. Cells of the bipolar and photoreceptor layers as well as pigment epithelial cells were not affected by MLD-specific lysosomal storage. Thus, sulfatides seem to play a part…
The analysis of SUDEP forensic autopsies leading to preventable events
2023
Introduction: The diagnosis of unexpected death by excluding non-natural causes, particularly in subjects with epilepsy, is a topic of interest and it is difficult to identify in the forensic field. Health professionals sometimes are faced with cases of sudden death, generally in young adults with a long history of epilepsy that require, for judicial purposes, an explanation in terms of cause and means to determine the death. SUDEP is an entity diagnosed by the exclusion of other causes that may have led to death, and then for forensic purposes, it requires particular attention and knowledge, and there is difficulty in identifying it. Our contribution aims to illustrate the scientific commu…