Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “human post-mortem tissue”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 37 records · Page 2Linked to original sources
PubMed1976

[Primary hyperoxaluria. Clinical, histological and crystallographic study of the ocular lesions].

A post-mortem histological examination of the eyes of a case of primary hyperoxaluria revealed the presence of crystals in the ciliary processes and at the level of the retinal pigment epithelium. The crystallography study demonstrated that it consisted of wewhellite. The ocular lesions are compared with those found by other authors in primary hyperoxaluria, after prolonged methoxyflurane anaesthesia, after experimental administration of dibutyloxalic acid or naphthalene, and in the human retina in longstanding detachments. Most of the factors which give rise to the presence in the eye of oxalate and its selective precipitation in the midst of certain ocular tissues remain hypothetical. The retinal lesions observed in primary hyperoxaluria appear to be pathognomonic for hyperoxalaemia.

Adult↗
PubMed1978

A benign deficiency of typeB beta-galactosidase in human liver.

The type A or 'acid' and type B or 'neutral' beta-galactosidase activities have been measured in post-mortem liver samples from individuals dying of non-genetic diseases and patients dying of ganglioside storage disease other than GM1 gangliosidosis. The type A activities fell within the established normal range in all samples. The type B activities showed a biomodal distribution suggesting the occurrence of two distinct populations of human individuals. The greater proportion had activities within the range 11.67 pkat/mg of protein (+/- 3.33, S.D.), while others had lower activities in the range 0.48 pkat/mg of protein (+/- 0.38, S.D.). No clinical symptoms were associated with the much lower type B beta-galactosidase activities and it appears that this beta-galactosidase deficiency could be found in the original tissues. Methods of screening for type B beta-galactosidase deficiency are described and the significance of this enzyme deficiency is discussed.

Chromatography, DEAE-Cellulose↗
PubMedDate not supplied

[Severe mixed immunodeficiency. Report of a case].

The case of a 3 month old child with severe combined sex linked immunodeficiency is presented. The diagnosis was well doccumented, during his life. The child presented as a case of mucocutaneous moniliasis resistant to treatment. There was a history of similar cases in the family; diagnosis was made at post-mortem in one cousin and death occurred at early age in all kins so affected. Blood marrow transplant was not feasible in our case because histocompatibility was lacking in the kins studied. Three units of transfer factor were given as well as hyperimmune plasma but the child died in respiratory failure. Autopsy demonstrated pulmonary infection by Pneumocystic carinii and generalized citomegalic inclussion virus infection; almost complete absence of immune tissue was also demonstrated.

Autopsy↗
PubMed1979

[Cardiological aspect of Kearns' syndrome. Apropos of 3 cases, with histopathological study of the conduction tissue in one of them].

Three cases of Kearns syndrome are reported. The neuro-ophthalmological signs were comparable with ophthalmoplegia, pigmentary retinal degeneration and polymorphic neuro-muscular and sensory deficits. The electrocardiological signs were observed 2-4 years after the onset of the condition; the cause of death in each case was related to complete heart block. The post-mortem findings in one of the cases were spongial degeneration of the central nervous system and a seemingly primitive degeneration of the Bundle of His and its branches.

Adolescent↗
PubMed1976

Tissue and hepatic subcellular distribution of liposomes containing bleomycin after intravenous administration to patients with neoplasms.

1. Liposomes containing 111In-labelled bleomycin were injected intravenously into two patients. One patient had a hepatoma and the other had secondary adenocarcinomatous deposits in the liver. 2. The tissue distribution of 111In was determined by whole-body scanning and by measurement of the radioactivity in organs at autopsy. 3. Scans in vivo and post-mortem measurement of radioactivity indicated that liposomes accumulate predominantly in the liver, but that there is no selective uptake of liposomes by the malignant tissue. 4. The subcellular distribution of radioactivity in the liver was measured 90 min after injection by fractionation of percutaneous liver biopsies on sucrose density gradients. 5. Radioactivity within the liver was concentrated in lysosomes. 6. Electron microscopy of tissue obtained before the administration of liposomes revealed particles morphologically indistinguishable from liposomes in hepatoma cells and hepatocytes.

Adenocarcinoma↗
PubMed1979

Sodium-independent, high-affinity binding of [3H]gamma-aminobutyric acid in human neurological disorders.

With respect to [3H]GABA-binding in material prepared from human post-mortem brain, the following observations have been made: (1) The [3H]GABA binding site in the cerebellum has the pharmacological characteristics of the physiological GABA-receptor observed in other species. Together with the post-mortem stability exhibited for [3H]GABA-binding, this provides an approach for determining the functional state of the GABA-receptor in various disease states; (2) In Parkinson's disease [3H]GABA-binding in the substantia nigra is significantly decreased whereas that in the putamen and caudate nucleus is unaltered. The former finding likely indicates that GABA binding sites (receptors) occur on nigral dopaminergic cell bodies and/or dendrites. The latter finding may signify that relatively few of the striatal [3H]GABA binding sites occur on dopaminergic nerve terminals in the human caudate or putamen; (3) In Huntington's disease [3H]GABA binding was decreased in the caudate nucleus and putamen, in parallel wih the massive cell loss and gliosis observed in this condition. Membranes prepared from cerebellar tissue of these patients possessed an increased affinity for [3H]GABA-binding; (4) Pre-treatment of cerebellar membranes from control brains with Triton-X-100 (0.02%) or phospholipase-C (0.001 units) results in kinetic changes very similar to those observed in Huntington's brains. In contrast, such treatment was virtually without effect on the IC50 or KD for [3H]GABA on cerebellar membranes prepared from Huntington's brains; (5) These results imply that a phospholipid, possibly related to phosphoglycerolethanolamine, is altered in the membrranes of Huntington's patients and that this phospholipid normally has a role in controlling accessibility to the GABA-receptor.

Binding, Competitive↗
PubMed1975

Characteristics of lung dusts and their relation to dust exposure and pathological findings in the lungs.

Lung dusts were investigated, post-mortem, in twenty-five miners from mixed metal mines, tunnels, and quarries who had exposed to high concentrations of mixed dust containing about 20-25% free crystalline silica. The character of the relations found between the amount of quartz per 100 g dry tissue and the clinical, X-ray and pathological findings is similar to that established in coal miners. The difference lies in the fact that with equal amounts of quartz per 100 g dry tissue, there is less silicosis in coal miners than in our cases; the average residence time of retained dust is longer in coal miners, but its quartz per cent is lower.

Bulgaria↗
PubMed2025

Single-cell analysis of dup15q syndrome reveals developmental and postnatal molecular changes in autism.

Duplication 15q (dup15q) syndrome is a leading genetic cause of autism spectrum disorder, offering a key model for studying autism-related mechanisms. Using single-cell and single-nucleus RNA sequencing of cortical organoids from dup15q patient-derived iPSCs and post-mortem brain samples, we identify increased glycolysis, disrupted layer-specific marker expression, and aberrant morphology in deep-layer neurons during fetal-stage organoid development. In adolescent-adult postmortem brains, upper-layer neurons exhibit heightened transcriptional burden related to synaptic signaling, a pattern shared with idiopathic autism. Using spatial transcriptomics, we confirm these cell-type-specific disruptions in brain tissue. By gene co-expression network analysis, we reveal disease-associated modules that are well preserved between postmortem and organoid samples, suggesting metabolic dysregulation that may lead to altered neuron projection, synaptic dysfunction, and neuron hyperexcitability in dup15q syndrome.

Humans↗
PubMed1979

[Contribution to the formal origin of multiple branched ossifications in the lung].

The observation of multiple ossifications in the lungs as secondary findings of the post-mortem examination of a 62-year-old male with chronic cardiac stasis and emphysema of the lung is reported. Apart from bone nodules larger branched mature bone clasps with marrow caves as well as a in most cases fibromatosis with a small focus which represents the matrix of ossification is represented. Apart from this histologically a hyperaemia with an oedema rich in protein, focal precipitation of protein with formation of a granulation tissue and later fibrosation are to be proved as presteps of nodular fibromatosis which according to the kind of the desmal ossification changes into bones. The chronic haemostasis in the pulmonary circulation is thus apparently of importance in our observation. The case is compared with literature. Up to now about 65 of such observations are reported which nearly exclusively concern old men. The etiology remains unclear.

Emphysema↗
PubMed1975

[Basophilic adenoma in combination with a prolapse of adenohypophyseal tissue through the capsule].

During the post-mortem examination of a 15-year patient who had died after the operation connected with incision of commissures a distorted form of the hypophysis was noted. Histological, histochemical and morphometric investigations showed that there was basophilic adenoma of adenohypophysis and prolapse of the tissue (beyond the borders of the adenoma) through a fistula against the background of changes characteristic of chronic diseases in childhood. Oxyphilic shift, moreover, was noted not only in the first zone of the adenohypophysis, but in other zones, as well as with a simultaneous increase in number of basophiles in I--III zones. Prolapse of the tissue, the latter being normal as far as the tumours growth was concerned, through the fistula took place at a considerable distance from the adenoma, which justifies the consideration of this process as a result of hyperplasia not connected with adenoma. Edges of the fistula bordering the prolapse, haemorrhages were to be seen.

Adenoma, Basophil↗
PubMed1975

Secretory component and sudden-infant-death syndrome.

Post-mortem specimens of blood, respiratory-tract washings, bronchopulmonary tissue, spleen, and thymus were examined for respiratory viruses, immunoglobulins, and secretory component (S.C.) in eight infants with sudden-infant-death syndrome (S.I.D.S) and in eight other (control) infants with an identifiable cause of death. Serum-immunoglobulin levels were similar in infants with S.I.D.S. and in control infants. In some S.I.D.S. cases serum-IgM was slightly raised. Respiratory syncytial virus was found in the pulmonary tissues of five S.I.D.S. patients but no viruses were isolated from other subjects. However, in one control subject parainfluenza type-3 viral antigen was detected in the bronchial tissue. In all patients with S.I.D.S., immunological reactions and fluorescent antibody staining for S.C. in the broncho-pulmonary epithelium were absent or grossly reduced. The levels of IgG and IgM in bronchial washings were unremarkable. These observations suggest a possible defect in respiratory mucosal defence in patients with S.I.D.S.

Antigens, Viral↗
PubMed2026

Proteomic profiling of bone for the estimation of post-mortem interval and post-mortem submersion interval: a systematic review.

Accurate estimation of the Post-Mortem Interval (PMI) and Post-Mortem Submersion Interval (PMSI) remains a persistent challenge in forensic science, especially when traditional morphological and entomological methods fail due to advanced decomposition or in aquatic environments. Proteomic profiling of bone tissues has recently emerged as a promising approach, leveraging the predictable degradation patterns of bone proteins to estimate time since death more reliably. This systematic review, conducted in accordance with PRISMA guidelines, analyzed 24 peer-reviewed studies focusing on the application of proteomic techniques to bone tissue for PMI and PMSI estimation. The included studies were evaluated based on sample type, analytical techniques used, identified biomarkers, environmental conditions assessed, and the overall reliability and reproducibility of the findings. The review found that specific bone proteins, particularly collagen, osteocalcin, fetuin-A, etc. exhibited consistent degradation patterns that correlated strongly with elapsed post-mortem time. Cortical bone was identified as a more stable and informative matrix compared to trabecular bone. Mass spectrometry, especially LC-MS/MS, emerged as the predominant analytical technique due to its high sensitivity and accuracy in detecting low-abundance proteins over extended PMIs and PMSIs. However, protein degradation rates were significantly influenced by environmental variables such as temperature, humidity, soil pH, and microbial activity. This review also emphasizes the transformative role of bone proteomics in advancing forensic science while identifying key gaps that must be addressed to achieve global standardization and practical implementation in diverse forensic contexts. The integration of proteomics with other emerging technologies, such as machine learning algorithms and computational modeling, may further enhance the precision of PMI and PMSI estimation in future applications.

Postmortem Changes↗
PubMed1976

Neurotransmitter-related enzymes and indices of hypoxia in senile dementia and other abiotrophies.

Fifty-six brains from middle-aged and elderly normal as well as demented subjects and patients with provisional clinical diagnosis of other neurological and psychiatric diseases were assessed histologically. On this basis the specimens were classified into 14 diagnostic groups. A survey of potential indices of specific neurons has been carried out on these brains in which neurotransmitter-related enzymes, gamma-GTP (a potential index of capillaries) and specific proteins have been determined in up to 20 brain regions. In addition, the agonal state has been tentatively assessed by examining the post-mortem states of the circulatory and respiratory systems. CAT and gamma-GTP activities and the concentration of a soluble neuronal-type protein (neuronin S-5) were found to be relatively unaffected by the agonal state. When cases of senile dementia were compared to controls (matched with respect to the cause of death) the activity of CAT (the potential index of cholinergic neurons) appears to be reduced in the cerebral cortex. This is a preliminary finding, although a correlation was indicated between CAT activity and 'senile' morphological changes, the activity was markedly reduced in only 3 brains. However, despite inconsistencies in the literature (Karczmar, 1975) at least one pharmacological study on humans appears to show that the cholinergic system may be involved in age-related memory degeneration (Drachman and Leavitt, 1974). Cholinergic neurons may be abnormal in the other abiotrophies examined (Huntington's chorea, motor neuron disease and mixed vascular and senile dementia). gamma-GTP and neuronin S-5 (identical in most respects to the soluble acidic neuronal protein 14-3-2 of antigen alpha) were not reduced in senile dementia. The activities of brain decarboxylase (GAD and AAD) and the concentration of another soluble acidic brain protein (neuronin S-6) appear to be affected by the agonal state. This is remarkable because GAD and, in particular, neuronin S6, are relatively unaffected by post-mortem autolysis. As judged by the state of the extraneural systems which regulated the blood and oxygen supply to the brain it appears that terminal 'cerebral hypoxia' is responsible for the depletion of these brain constituents. This effect appears to be particularly marked in deep grey matter. In non-demented patients that die of bronchopneumonia, the areas of the cortex which are depleted in neuronin S-6 are consistent with the pattern of the 'selective vulnerability' of the cortex to hypoxia, suggesting that the terminal state can also affect the neocortex. If so, then this is particularly relevant to studies on senile dementia, for the effect of the terminal bronchopneumonia that so often occurs in these patients (and in patients with other abiotrophies) may be exacerbated by a terminal reduction in cerebral blood flow...

Adult↗
PubMed1975

[Morphogenesis of coronarosclerosis in rheumatism].

Post-mortem studies of 72 hearts of persons who when alive had suffered from rheumatism were carried out. A complex genesis of sclerotic processes in the vascular walls was noted. They were occurring as a result of the desorganization of the connective tissue, as well as of "wearing out" of hemodynamic adaptation structures and development of atherosclerosis. The dependence of the character of sclerotic changes in vessels upon the peculiar features of the clinical course of the disease is shown. In cases with a high activity of the rheumatic process and considerable increase in the vascular-tissue permeability the development of hyalinosis was noted, and in cases with a slow course of rheumatism an increased fibrillogenesis was observed. Simultaneously, lesion and perish of the smooth-muscle fibres of the media with outgrowth therein of the connective tissue occurred. The dependence of the extent of atherosclerosis in various branches of the coronary arteries upon a morphofunctional characteristics of this defect was established. The most extensive atherosclerotic lesions were found in those vessels which supplied with the blood the functionally burdened regions of the myocardium. A higher activity of lipolitic enzymes in the vessels and the cardiac muscle was observed in persons with rheumatism, as compared with that in persons free from cardiovascular diseases, and particularly in patients with atherosclerosis.

Adolescent↗
PubMedDate not supplied

[Quantitative morphology of coronary arteriosclerosis and coronary insufficiency in heart hypertrophy (author's transl)].

After post-mortem coronary angiography the degree of ventricular hypertrophy was estimated on 18 hearts. The cases were divided in three groups: 9 hearts with right ventricular hypertrophy, 4 hearts with left ventricular hypertrophy and 5 hearts with hypertrophy of both ventricles. Cytophotometric studies revealed a close correlation between absolute weight of heart segments and DNA content of muscle cell nuclei of both ventricles . Radius and area of lumen, thickness and area of both intima and media were measured at serial cross sections of all three coronary arteries. Using these data indices on coronary sclerosis and, including the heart weight, indices on coronary insufficiency were calculated. By determining these indices for the isolated right and left ventricle and the interventricular septum additional criteria suggesting failure of coronary perfusion were obtained. These criteria disclosed that in cases of right ventricular hypertrophy the connective tissue of the right ventricular myocardium was increased only at high values of the insufficiency indices. On the other hand in cases of left ventricular hypertrophy the morphological features of decreased perfusion of the right ventricle were observed at low index values. In all three groups the increased vulnerability of the left ventricle to failure of coronary perfusion was numerically proved.

Adult↗
PubMed1979

Blastomycosis: report of three cases from Alberta with a review of Canadian cases.

Approximately 120 cases of blastomycosis have been reported from Canada to-date. The great majority of these occurred in the Eastern provinces. Since 1970, three cases of blastomycosis have been seen in Alberta. The first case, with meningeal and pulmonary involvements, was diagnosed at post-mortem. The second case was that of a 75-year-old male with a history of pancytopenia, aortic arteriosclerosis, exposure to mercury, and fever. KOH and periodic-acid schiff (PAS) stained smears of the lung tissue, received after autopsy, showed numerous budding yeast cells of Blastomyces dermatitidis along with some hyphal filaments. Similarly, budding cells of B. dermatitidis and hyphal segments were observed in large numbers in the PAS and Gomori's methenamine-silver (GMS) stained sections made from adrenals, lung, kidney, and spleen tissues. Attempts to culture the fungus on a variety of selective and non-selective media were unsuccessful, due to heavy bacterial contamination. The indirect fluoroscent antibody results were 2+ with the B. dermatitidis conjugate. The third case was that of a 31-year-old male, who was admitted to the hospital with the chief complaint of chest pain. Biopsy tissue sections, stained with the GMS procedure revealed a few foci with B. dermatitidis yeast cells. The immunodiffusion and complement fixation (CF) tests gave positive results against B. dermatitidis antigen (titre, 1:16). The CF titre declined following treatment with amphotericin B and the immunodiffusion test became negative after the institution of antifungal therapy. Except for the last patient, the other two patients had no history of travel in any known endemic areas. In addition to these cases, a survey of blastomycosis occurring in this country has been presented along with on the disease in dogs and a cat.

Adolescent↗
PubMed1975

The neurochemistry of Parkinson's disease: effect of L-dopa therapy.

Post-mortem brain material from control and Parkinson's disease patients was examined to elucidate further the neurochemistry of this disease and to determine the mechanism of action of L-dopa as a therapeutic agent. The activities of L-aromatic amino acid decarboxylase (dopa D), tyrosine hydroxylase, monoamine oxidase and catechol-O-methyl transferase were examined; in addition the tissue levels of dopa, 3-O-methyldopa, dopamine (DA) and homovanillic acid (HVA) were determined. In the non-dopa-treated Parkinsonian patients, the greatest decreases were detected for striatal DA and dopa D, with homovanillic acid and tyrosine hydroxylase levels showing a lesser change. The activities of monoamine oxidase and catechol-O-methyl transferase in the striatal nuclei were not different from the controls. The putamen was consistently the most severely affected region. Dopa and 3-O-methyldopa were detectable in all brain areas only in those patients treated with L-dopa shortly before death. The mean concentrations of DA in the striatum of these patients were 1) 9 to 15 times higher than those in non-dopa-treated patients, 2) related to the time before death of the last dose of L-dopa and 3) greater in the striatum of patients clinically classified as "good responders" as compared to "poor responders." Although L-dopa therapy increased homovanillic acid levels in all brain areas, a preferential increase was observed in the striatum. It was concluded that L-dopa's principal therapeutic effects in Parkinson's disease are consistent with its transformation to DA in the striatum.

Aged↗
PubMed2025

Distinct spatial transcriptomic patterns of substantia Nigra in Parkinson disease and Parkinsonian subtype of multiple system atrophy.

To investigate transcriptomic signatures of Parkinson's disease (PD) and the Parkinsonian subtype of Multiple System Atrophy (MSA-P) in substantia nigra pars compacta (SNpc), we conducted transcriptome analysis using in-situ hybridization on paraffin-embedded SNpc tissues from post-mortem brains. The study included 2 MSA-P patients, 2 PD patients, and 2 healthy controls (HC), with 12 regions of interest (ROIs) selected from the dorsal to ventral and medial to lateral aspects of the SNpc. A total of 72 ROIs from 6 participants were analyzed, and differentially expressed genes (DEGs) were identified by comparing MSA-P, PD and HC groups. The MSA-P group showed 88 upregulated DEGs and 326 downregulated DEGs (adjusted &#x1d45d;<0.05) compared to HC. The downregulated DEGs were significantly enriched in pathways related to ribosomal translation, immune processes, mitochondrial function, and autophagy. Notably, the dorsomedial quadrant was uniquely linked to antigen presentation, while other quadrants showed downregulation of protein synthesis. The PD group exhibited 165 upregulated DEGs and 350 downregulated DEGs (adjusted &#x1d45d;<0.05) compared to HC, with downregulated DEGs associated with ribosomal translation, mitochondrial function, and the ubiquitin-proteasome system. In both MSA-P and PD, the upregulated DEGs were not associated with any pathways or biological process in gene enrichment analysis. In network propagation analysis, amyloid precursor protein was the most significant network hub among DEGs in both MSA-P and PD. Comparing the transcriptomic signatures of SNpc between MSA-P and PD, we found immune/inflammation, mitochondrial function and neural signaling related genes were significantly downregulated in MSA-P compared to PD. Overall, the transcriptomic signature of the SNpc in MSA-P and PD revealed overlapping but distinct features, including alterations in protein synthesis, immune processes, mitochondrial function, and protein degradation systems. Future studies with larger cohorts and functional validation are needed to further elucidate these findings.

Humans↗