Search results for "Amy"
showing 10 items of 1486 documents
Further evidence that D90A-SOD1 mutation is recessively inherited in ALS patients in Italy.
2008
Mutations in the Cu/Zn superoxide dismutase 1 (SOD1) gene have been reported to cause adult-onset autosomal dominant amyotrophic lateral sclerosis (FALS). In sporadic cases (SALS), de novo mutations in the SOD1 gene have occasionally been observed. All the SOD1 mutations are autosomal dominantly inherited with the exception of D90A. To date, in Italy, only two sporadic ALS cases carrying the D90A mutation have been reported in a homozygous state. We investigated for the presence of this mutation in 169 unrelated ALS patients from southern Italy. The genetic analysis revealed three ALS patients (1.8%) with mild phenotype carrying the homozygous D90A mutation.
Accuracy of death certificates for amyotrophic lateral sclerosis varies significantly from north to south of Italy: Implications for mortality studies
2004
<i>Objective:</i> To evaluate the accuracy of death certificates (DCs) for amyotrophic lateral sclerosis (ALS) in different parts of Italy. Studies based on DC diagnosis for ALS have shown a reduced mortality comparing northern with southern Italy. These data are in contrast with results from other surveys on the incidence of ALS performed in Italy and other countries. <i>Methods:</i> Archives of neurological clinics from northern (Milano, Monza, Pavia, and Bologna) and southern Italy including islands (Napoli, Sassari, Palermo, and Messina) were searched for patients discharged with a diagnosis of ALS in the period 1970–1995. Subjects affected by definite/probable A…
Incidence of amyotrophic lateral sclerosis in Sicily: A population based study
2012
Our objective was to investigate incidence of amyotrophic lateral sclerosis (ALS) in Sicily, southern Italy, by means of a population based study. We included people with ALS resident in fi ve Sicilian provinces, whose onset occurred in the two-year period 2005 2006 (population at 31 December 2006: 3,481,096 inhabitants). A multisource case-fi nding procedure was adopted and patients were classifi ed as affected by ALS according to revised El Escorial criteria. During the two-year surveillance period, 97 patients meeting eligibility criteria included 57 males (58.8%) and 40 females (41.2%). Crude annual incidence rate was 1.4/100,000 person years (95% CI 1.33 1.47). The incidence rate was h…
Psoriasis arthropathica und Amyloidose
1972
Von insgesamt 5 Psoriasis arthropathica-Kranken wurden 4 rectumbioptisch, einer autoptisch auf das Vorliegen einer Amyloidose hin untersucht. Bei einem Patienten konnte ein positiver Amyloidnachweis gefuhrt werden. Es handelte sich dabei wie bei allen in der Literatur aufgefuhrten Fallen um die sekundare bzw. periretikulare Form der Amyloidablagerung. Anhand des vorliegenden Schrifttums wird die Haufigkeit einer Amyloidose bei Psoriatikern diskutiert, es werden Unterschiede zur Amyloidose bei primar chronischen Polyarthritis-Kranken aufgezeigt sowie Moglichkeiten der Amyloidgenese bei Psoriasis erortert.
Socio-Demographic Characteristics and Sexual Behavioral Factors of Patients with Sexually Transmitted Infections Attending a Hospital in Southern Ita…
2021
Sexually transmitted infections (STIs) are a serious global health problem. In Italy, data describing the vulnerability to STIs of specific sexual minorities and the influence of sociodemographic and behavioral determinants are limited, as most infections are not subject to mandatory notification. This retrospective study describes the sociodemographic profile and main sexual behaviors of patients attending a hospital in Palermo (Sicily, Italy) from January 2018 to March 2019 as predictors of STI risk. Patients were divided in subgroups: men-who-have-sex-with-men (MSM), men-who-have-sex-with-women (MSW), bisexual men and females. Data were obtained through an anonymous questionnaire. Patien…
Serum and fecal pancreatic enzymes in beta-thalassemia major
1997
This study, using indirect tests, demonstrated that exocrine pancreatic function is impaired in a proportion of patients with beta-thalassemia major (TM), though this impairment is generally mild or moderate.Impaired structure and function of the exocrine pancreas has been reported in patients with Beta-thalassemia major.In this study we measured fecal fats and serum and fecal pancreatic enzymes in 30 patients (13 M, 17 F) with TM, mean age 22.1 yr (range 14-39) and compared them with those of a matched group of healthy controls. Results were correlated with age, serum ferritin, blood transfusion, and various nutritional parameters. Enzymes assays included: serum pancreatic amylase (PA), li…
Functional changes in brain activity after hypnosis in patients with dental phobia.
2015
Visiting the dentist is often accompanied by apprehension or anxiety. People, who suffer from specific dental phobia (a disproportional fear of dental) procedures show psychological and physiological symptoms which make dental treatments difficult or impossible. For such purposes, hypnosis is often used in dental practice as an alternative for a number of treatments adjuvant or instead of sedation or general anaesthetics, as medication is often associated with risks and side effects. This is the first study to address the effects of a brief dental hypnosis on the fear processing structures of the brain in dental phobics using functional magnetic resonance imaging (fMRI). 12 dental phobics (…
Beyond the amygdala: Linguistic threat modulates peri-sylvian semantic access cortices
2015
In this study, healthy volunteers were scanned using functional magnetic resonance imaging (fMRI) to investigate the neural systems involved in processing the threatening content conveyed via visually presented “threat words.” The neural responses elicited by these words were compared to those elicited by matched neutral control words. The results demonstrate that linguistic threat, when presented in written form, can selectively engage areas of lateral temporal and inferior frontal cortex, distinct from the core language areas implicated in aphasia. Additionally, linguistic threat modulates neural activity in visceral/emotional systems (amygdala, parahippocampal gyrus and periaqueductal gr…
Presence of Rickettsia conorii subsp. israelensis , the Causative Agent of Israeli Spotted Fever, in Sicily, Italy, Ascertained in a Retrospective St…
2005
ABSTRACT A retrospective analysis by molecular-sequence-based techniques was performed to correctly identify the etiological agent of 24 Mediterranean spotted fever cases occurring in Western Sicily, Italy, from 1987 to 2001. Restriction analysis of a 632-bp PCR-amplified portion of the ompA gene allowed presumptive identification of five clinical isolates as belonging to Rickettsia conorii subsp. israelensis , the etiological agent of Israeli spotted fever (ISF). The remaining 19 rickettsial isolates were Rickettsia conorii subsp. conorii , the only pathogenic rickettsia of the spotted fever group reported in Italy until the present. Sequence analysis of the ompA gene confirmed the identif…
Could mitochondrial haplogroups play a role in sporadic amyotrophic lateral sclerosis?
2004
Mitochondrial impairment has been implicated in the pathogenesis of the amyotrophic lateral sclerosis (ALS). Furthermore, mitochondrial-specific polymorphisms were previously related to other neurodegenerative diseases, such as Parkinson, Friedreich and Alzheimer disease. To investigate if specific genetic polymorphisms within the mitochondrial genome (mtDNA) could act as susceptibility factors and contribute to the clinical expression of sporadic ALS (sALS), we have genotyped predefined European mtDNA haplogroups in 222 Italian patients with sALS and 151 matched controls. Individuals classified as haplogroup I demonstrated a significant decrease in risk of ALS versus individuals carrying t…