ABSTRACT
The problem of the possibility of modifying blank cartridge dummy firearms to make them fire a real bullet has long been known, but the phenomenon has been constantly on the increase in the recent years. In Italy, there are no restrictions on the purchase of an inoffensive weapon. However, few modifications are frequently enough to transform the inoffensive weapon into a harmful one: a procedure is often undertaken to avoid the mandatory control and registration of firearms. We describe a case of suicide of a man in Trieste, Italy, in 2002, with a blank cartridge dummy pistol that had been modified to fire homemade bullets.
Subject(s)
Firearms , Suicide , Thoracic Injuries/pathology , Wounds, Gunshot/pathology , Aged , Equipment Design , Humans , Italy , MaleABSTRACT
Gerstmann-Sträussler-Scheinker (GSS) is a hereditary prion disease typically associated with prion protein (PrP)-containing plaques. The protease-resistant, scrapie PrP (PrPSc) is represented by internal fragments, whereas the C-terminal fragments associated with the other prion diseases are generally underrepresented. Different histopathologic and PrPSc features associated with at least 13 PrP gene (PRNP) mutations have been described in GSS. We report the histopathology and PrP characteristics in a father and son carrying a mutation at PRNP codon 187 that substitutes histidine (H) with arginine (R) and is coupled with valine (V) at position 129 (H187R-129V). The PrP plaques were present in both cases but with different structure and topography and minimal spongiform degeneration. A distinctive, "curly" PrP immunostaining was prominent in one case. The protease-resistant PrPSc differed in amount in the 2 cases, possibly depending on whether plaques or the curly immunostain was present. Two protease-resistant PrP fragments of 14 kDa and 7 kDa with, in at least one case, N-terminus between residues 90-99 and 82-90, respectively, codistributed with the plaques, whereas only very small amounts of the PK-resistant PrP were present in the curly staining regions. PK-resistant PrP recovered from the plaque and curly staining regions appeared to be full length.
Subject(s)
Gerstmann-Straussler-Scheinker Disease/pathology , Peptide Fragments/metabolism , PrPSc Proteins/metabolism , Adult , Amino Acid Sequence , Animals , Brain/anatomy & histology , Brain/metabolism , Brain/pathology , Gerstmann-Straussler-Scheinker Disease/genetics , Humans , Male , Middle Aged , Molecular Sequence Data , Peptide Fragments/genetics , Phenotype , Point Mutation , PrPSc Proteins/geneticsABSTRACT
Epidemiological and experimental data suggest that type 2 diabetes (DM2) and sporadic late-onset Alzheimer's disease (AD) share a common mechanism, that is able to produce accumulation of insulin and amyloid beta 42 (Abeta42), the major pathogenic events respectively of the two conditions. In 71 non diabetic patients with amnestic mild cognitive impairment we found a significant linear correlation between fasting plasma levels of insulin and Abeta42 (R = +0.25, P < 0.05). The levels of both peptides were elevated in comparison to 48 age-matched cognitively normal controls. The correlation of insulin and Abeta42 plasma levels suggests a pathogenic link between DM2 and sporadic AD.
Subject(s)
Amnesia/metabolism , Amyloid beta-Peptides/metabolism , Cognition Disorders/metabolism , Insulin/blood , Peptide Fragments/metabolism , Aged , Alzheimer Disease/epidemiology , Alzheimer Disease/metabolism , Amnesia/epidemiology , Blood Glucose/analysis , Cognition Disorders/epidemiology , Diabetes Mellitus, Type 2/epidemiology , Diabetes Mellitus, Type 2/metabolism , Enzyme-Linked Immunosorbent Assay , Female , Humans , Male , Severity of Illness IndexABSTRACT
Currently, definite peripheral markers for the in vivo diagnosis of sporadic Creutzfeldt-Jakob disease (CJD) are not available. Here, we report the presence of pathological prion protein in the olfactory mucosa of a case with sporadic Creutzfeldt-Jakob disease. Prion protein immunoreactivity was detected in an olfactory biopsy performed 45 days after the disease onset, suggesting that the involvement of olfactory epithelium is an early event in sporadic Creutzfeldt-Jakob disease.
Subject(s)
Creutzfeldt-Jakob Syndrome/pathology , Olfactory Mucosa/metabolism , PrPSc Proteins/metabolism , Biopsy , Brain Chemistry , Creutzfeldt-Jakob Syndrome/physiopathology , Female , Humans , Immunohistochemistry , Middle Aged , Olfactory Mucosa/pathologyABSTRACT
We report on a patient affected by ICF syndrome (immunodeficiency, centromeric instability of chromosomes 1, 9 and 16 and facial dysmorphism), who presented with slowing in mentation, mild right hemiparesis and focal motor seizures. MRI study of the brain suggested a diagnosis of progressive multifocal leukoencephalopathy (PML), which was confirmed by JC virus DNA detection on CSF by polymerase chain reaction (PCR). This is a unique case of adult infective neurological complication described in ICF Syndrome.
