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Biomedical subjects

G Salemi

Publications and source records attributed to G Salemi.

At least 37 records · Page 2Linked to original sources
PubMed1999

Exclusion of the Sonic Hedgehog gene as responsible for Currarino syndrome and anorectal malformations with sacral hypodevelopment.

Anorectal malformations (ARMs) are common congenital anomalies that account for 1:4 digestive malformations. ARM patients show different degrees of sacral hypodevelopment while the hemisacrum is characteristic of the Currarino syndrome (CS). Cases of CS present an association of ARM, hemisacrum and presacral mass. A gene responsible for CS has recently been mapped in 7q36. Among the genes localized in this critical region, sonic hedgehog (SHH) was thought to represent a candidate gene for CS as well as for ARM with different levels of sacral hypodevelopment according to its role in the differentiation of midline mesoderm. By linkage analysis we confirmed the critical region in one large family with recurrence of CS. In addition, the screening of SHH in 7 CS and in 15 sporadic ARM patients with sacral hypodevelopment allowed us to exclude its role in the pathogenesis of these disorders.

Anal Canal↗
PubMed1998

Population-based case-control study of essential tremor.

Current epidemiologic data on the association between environmental factors and essential tremor (ET) are scanty. In a population-based case-control study we investigated the relationship between some putative risk factors and ET. In the present study, we included all subjects identified during a door-to-door prevalence survey in a Sicilian community, affected by ET, and alive on 1 November 1987 (n=31). Of the 31 prevalent cases of ET, we were able to contact 28 subjects. Twenty-eight controls were randomly selected from the general population and matched to each case for age and sex. Exposure variables were investigated by interviewing the patients and their controls or close relatives, using a structured questionnaire. The odds for habitual alcohol consumption were 0.3, indicating a protective effect. The odds for exposure to agricultural chemicals and domestic animals were 2.5 and 2.7, respectively, suggesting a role as potential risk factors. However, the associations found by us were not statistically significant.

Adult↗
PubMed1998

Stroke incidence and survival in three Sicilian municipalities. Sicilian Neuro-Epidemiologic Study (SNES) Group.

We investigated the incidence of first-ever stroke in three Sicilian municipalities over the years 1984-1987. Case ascertainment involved two approaches: a door-to-door two-phase prevalence survey and a study of death certificates. Only first-ever strokes occurring within the study time interval were included, and diagnoses were based on specified criteria. We found 138 subjects who had experienced a first stroke over 73 488 person-years; the average incidence rate (new cases per 1000 population per year) was 1.9 overall, 1.7 in men, and 2.1 in women. Incidence increased steeply with age and was similar in men and women. Incidence was similar in the three study municipalities. The overall case-fatality rate was 35% at 30 days and 22% at one week. Survival after stroke was similar in men and women but better in younger compared to older stroke patients. Comparisons with previous studies suggest the absence of major geographic variations in stroke incidence within Italy.

Adult↗
PubMed1998

Prevalence and incidence of multiple sclerosis in the city of Monreale, Italy.

The prevalence and incidence of multiple sclerosis (MS) in the city of Monreale, southern Italy were ascertained 10 years after a preliminary study in the same area. The study was undertaken in a population of 26,256 people. The patients were classified according to Poser's criteria. The prevalence of MS on 31 December 1991 was 72.4 per 100,000 population. The incidence of MS for the period 1981-1991 was 3.3/100,000 per year. The mean period between onset and diagnosis of MS was 4.9 years for those patients found during this survey and 9.2 years for those in the first study. This study shows an increase of MS prevalence in Monreale city and a high incidence. The findings parallel the reduction of the lag time between onset and diagnosis.

Adolescent↗
PubMed1996

Prevalence of lumbosacral radiculopathy in two Sicilian municipalities. Sicilian Neuro-Epidemiologic Study (SNES) Group.

OBJECTIVES: As part of a door-to-door survey of neurologic diseases, we investigated the prevalence of lumbosacral radiculopathy (LR) in two Sicilian municipalities (N = 14,540, as of November 1, 1987). MATERIAL & METHODS: During phase 1, we administered a brief screening instrument to subjects in the study population. In phase 2, study neurologists using specified diagnostic criteria investigated those subjects who screened positive. Our case finding was restricted to subjects who manifested symptoms of LR in the six months preceding the prevalence day. RESULTS: We found 143 subjects affected by LR (112 definite, 31 possible) yielding a crude prevalence of 9.8 cases per 1,000 population. Age-specific prevalence was generally higher in men; it increased to a peak at age 50-59 years and decreased steadily thereafter. At the peak, prevalence was higher in factory workers, housewives, and clerks compared to workers in other occupations. CONCLUSIONS: LR is a common neurologic disease in the general population.

Adult↗
PubMed1996

Incidence and lifetime prevalence of Bell's palsy in two Sicilian municipalities. Sicilian Neuro-Epidemiologic Study (SNES) Group.

INTRODUCTION: In a door-to-door two-phase survey of common neurologic diseases conducted in two Sicilian municipalities, we investigated the incidence and the lifetime prevalence of Bell's palsy (BP). MATERIAL & METHODS: During phase I, we administered a screening instrument for facial palsy to 11,901 adult persons. During phase 2, study neurologists using specified diagnostic criteria evaluated those subjects who screened positive. RESULTS: We found 73 subjects who had experienced BP during their life. The lifetime prevalence as of November 1, 1987, was 642.8 cases per 100,000 population age 15 years and above. The prevalence increased with age and was similar in men and women. Eighteen episodes of BP occurred in the three years preceding the prevalence day. The average annual incidence rate was 52.8 new episodes per 100,000 population age 15 years and above. Incidence increased with age. CONCLUSION: Comparison with other incidence studies suggests some geographic variability.

Adolescent↗
PubMed1996

Prevalence of stroke: a door-to-door survey in three Sicilian municipalities. Sicilian Neuroepidemiologic Study (SNES) Group.

As part of a door-to-door survey, we screened for stroke among the inhabitants of three Sicilian municipalities (n = 24,496 as of November 1, 1987). Neurologists then investigated those subjects suspected to have had a stroke. Diagnoses of first-ever strokes were based on specified criteria and were reviewed by an adjudication panel. We found 189 subjects who had experienced at least one completed stroke (180 definite, 9 possible); 15 strokes were hemorrhagic, 71 ischemic, and 103 uncertain. The prevalence (cases/100,000) was 771.6 in the total population and 1,893.6 in those aged 40 years or over. The prevalence increased steeply with age, was higher in men between 60 and 79 years, but was higher in women thereafter. Age-specific figures were similar in the three study municipalities. Although all first-ever strokes had been previously diagnosed, 40% of the subjects had not been hospitalized for this condition.

Adult↗
PubMed1995

Expression of synapsin I gene in primary cultures of differentiating rat cortical neurons.

Synapsin I is a neuron-specific protein which is present in two isoforms, Ia and Ib. In the last few years this protein has been demonstrated to play a central role in the regulation of neurotransmitter release and synaptic plasticity. In this paper the developmental expression of this protein has been investigated in primary neuronal cultures from fetal rat brain cortices. The presence of thyroid hormone in the culture medium stimulates an early expression of the protein without exerting any effect at the level of mRNA transcription and accumulation. These observations implicate a T3-dependent regulation of this neuron-specific gene at the level of mRNA translation.

Animals↗
PubMed1994

Prevalence of essential tremor: a door-to-door survey in Terrasini, Sicily. Sicilian Neuro-Epidemiologic Study Group.

As part of a door-to-door neuroepidemiologic survey, we investigated the frequency and distribution of essential tremor (ET) in a Sicilian municipality. During phase 1, we administered a screening instrument for tremor to 7,653 persons residing in Terrasini (Palermo province). During phase 2, neurologists evaluated those subjects who had screened positive. The diagnoses, based on specified clinical criteria, were reviewed to increase reliability across neurologists. We found 31 subjects affected by ET (17 men, 14 women); 11 patients (35.5%) reported a familial aggregation. The prevalence of ET as of November 1, 1987, was 405.1 per 100,000 for the total population, and 1,074.9 per 100,000 for those 40 years old or older. The prevalence increased with advancing age for both sexes and was slightly but consistently higher in men. Comparison with other studies suggests striking geographic variation, which may reflect genetic differences.

Adolescent↗
PubMed1993

Prevalence of diabetic neuropathy with somatic symptoms: a door-to-door survey in two Sicilian municipalities. Sicilian Neuro-Epidemiologic Study (SNES) Group.

In a door-to-door survey conducted in two municipalities of Sicily, we ascertained the prevalence of diabetic neuropathy. Our case-finding was restricted to subjects with somatic symptoms. During phase 1, we administered a screening instrument for peripheral neuropathy to 14,540 persons residing in Santa Teresa di Riva (Messina Province) and Terrasini (Palermo Province). During phase 2, neurologists evaluated those subjects who had screened positive. Diagnoses were based on clinical criteria only, and were reviewed by an adjudication panel. We found 39 persons (27 women, 12 men) affected by diabetic neuropathy. The crude prevalence, as of November 1, 1987, was 268.2 cases per 100,000 population. The prevalence increased with advancing age for both sexes and was consistently higher in women. The most common type was distal symmetric polyneuropathy. The median time between diagnosis of diabetes mellitus and onset of diabetic neuropathy was 8 years, and almost all identified persons with diabetic neuropathy were under treatment for diabetes mellitus.

Adult↗
PubMed1992

The dynamic properties of neuronal chromatin are modulated by triiodothyronine.

The effect of triiodothyronine (T3) on the rate of synthesis of nuclear proteins was studied during terminal differentiation of rat cortical neurons cultured in a serum-free medium. To this aim total and acid soluble nuclear proteins were analyzed by different electrophoretic techniques. Our results show that: 1) during maturation in vitro, neuronal nuclei undergo a dramatic change in the rate at which different classes of histones and high mobility group (HMG) proteins are synthesized; the synthetic activity, measured as incorporation of radioactive precursors into nuclear proteins, slows indeed down with age: especially evident is the decrease in core histones synthesis; at day 15, on the other hand, HMG 14 and 17 and ubiquitinated H2A (A24) are synthesized at a high rate, especially in T3-treated neurons; 2) neurons treated with T3 show, at any age tested, a higher level of lysine incorporation into nuclear proteins; 3) even if during the first days of culture neurons synthesize core histones more actively in the presence of T3, there is no accumulation of these proteins at later stages, as compared with untreated cells. Possible implications of these data and relationship with the chromatin rearrangement which accompanies neuronal terminal differentiation are discussed.

Animals↗
PubMed1992

Neuronal cell cultures: a tool for investigations in developmental neurobiology.

The aim of this review is to describe environmental requirements for survival of neuronal cells in culture, and secondly to survey the complex interplay between hormones, neurotrophic factors, transport- and extracellular matrix- proteins, which characterize the developmental program of differentiating neurons. An overall reconsideration of the literature in this vast field is above the limits of the present paper; since progress and refinement in the techniques of neuronal cell cultures have paralleled the advancement in Developmental Neurobiology, we will run instead through the main steps which form the conceptual framework of neuronal cell cultures.

Animals↗
PubMed1992

Myasthenia gravis associated with Charcot-Marie-Tooth neuropathy: report of a case.

We report the case of a 24 year old woman who developed myasthenia gravis in the course of a mild form of Charcot-Marie-Tooth neuropathy. We describe the clinical manifestations together with the neurophysiological, pathological, serological findings and response to therapy and discuss the unusual association in the light of the relevant literature.

Adult↗
PubMed1991

A case-control study of amyotrophic lateral sclerosis.

A retrospective case-control study was conducted using 46 patients affected by amyotrophic lateral sclerosis and 92 closely matched healthy controls. Cases were ascertained through typical clinical and instrumental findings. Putative risk factors (bone fractures or major trauma, exposure to domestic animals, surgical operations, disease among first degree relatives and others) were investigated anamnestically using a standard questionnaire. Using Mantel-Haenzsel estimates of the odds ratio, no association was found between amyotrophic lateral sclerosis and the investigated variables.

Amyotrophic Lateral Sclerosis↗
PubMed1990

Binding of flunitrazepam to differentiating neurons cultured in a chemically defined, hormone-supplemented medium.

[3H]Flunitrazepam (FNZ) binding to cortical neurons from fetal rat brain was investigated in vitro. The use of a synthetic medium specific for neurons made it possible to plot a developmental curve of 3H-FNZ binding in an almost pure neuronal culture. Detectable specific binding was present in vitro at time 0 (that is, the 16th gestational day). A progressive increase of binding, due to an increment in the number of recognition sites, was observed on the subsequent days. The affinity of the specific binding sites to 3H-FNZ was enhanced by the addition of exogenous GABA, whereas the density was not affected.

Animals↗
PubMed1990

Triiodothyronine accelerates the synthesis of synapsin I in developing neurons from fetal rat brain cultured in a synthetic medium.

The effect of Triiodothyronine (T3) on Synapsin I appearance in rat cortical neurons has been investigated in vitro. Neuronal cultures from 16-day-old fetal rat brain grown in the absence of T3, express immunohistochemically detectable Synapsin I at the 14th day in vitro. The addition of the hormone to the culture medium determines an early (at the 7th day in vitro) appearance of fluorescent dots specific for Synapsin I.

Animals↗