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1.
Neurol Sci ; 41(2): 411-416, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31713191

RESUMO

BACKGROUND: People often ignore the usefulness of stroke prevention, the typical onset symptoms, and the efficacy of the new therapies. In order to attempt to correct this situation, we performed an educational campaign addressed to Rotary club associates and their relatives or friends in the Italian Rotary District 2032. METHOD: The campaign consisted in three phases: (1) Compilation of a simple questionnaire on stroke, followed by a scientific relation on the disease, distribution of didactic materials, and organization of screening sessions on individual stroke risk evaluation; (2) Recompilation by participants of the same previous questionnaire; (3) Statistical evaluation of the improvement of stroke knowledge. RESULTS: The initial percentage of wrong answers (number of subjects 657) was 22.41% ((A) stroke general knowledge 15.45%; (B) stroke risk factors 25.65%; (C) Stroke early symptoms 22.65%). At the end of the campaign, the total percentage of wrong answers (number of subjects 296) attained the 13.18% ((A) stroke general knowledge 8.22%; (B) stroke risk factors 14.98%; (C) stroke early symptoms 13.85%). All these differences were strongly significant at the statistical analysis. DISCUSSION AND CONCLUSION: We demonstrated that our educational campaign obtained an important improvement of stroke awareness in our sample. We hope that the enhanced awareness might induce a more frequent diffusion of primary prevention strategies, an increased capacity of recognizing onset stroke symptoms with shortening of patients' presentation in the Emergency Room of the hospitals when they can undergo thrombolysis/thrombectomy.


Assuntos
Conscientização , Educação em Saúde , Conhecimentos, Atitudes e Prática em Saúde , Acidente Vascular Cerebral/terapia , Adulto , Idoso , Serviço Hospitalar de Emergência , Feminino , Educação em Saúde/métodos , Humanos , Itália , Masculino , Pessoa de Meia-Idade , Fatores de Risco , Acidente Vascular Cerebral/diagnóstico , Inquéritos e Questionários
2.
Transl Psychiatry ; 6: e808, 2016 05 17.
Artigo em Inglês | MEDLINE | ID: mdl-27187230

RESUMO

Joint attention (JA), whose deficit is an early risk marker for autism spectrum disorder (ASD), has two dimensions: (1) responding to JA and (2) initiating JA. Eye-tracking technology has largely been used to investigate responding JA, but rarely to study initiating JA especially in young children with ASD. The aim of this study was to describe the differences in the visual patterns of toddlers with ASD and those with typical development (TD) during both responding JA and initiating JA tasks. Eye-tracking technology was used to monitor the gaze of 17 children with ASD and 15 age-matched children with TD during the presentation of short video sequences involving one responding JA and two initiating JA tasks (initiating JA-1 and initiating JA-2). Gaze accuracy, transitions and fixations were analyzed. No differences were found in the responding JA task between children with ASD and those with TD, whereas, in the initiating JA tasks, different patterns of fixation and transitions were shown between the groups. These results suggest that children with ASD and those with TD show different visual patterns when they are expected to initiate joint attention but not when they respond to joint attention. We hypothesized that differences in transitions and fixations are linked to ASD impairments in visual disengagement from face, in global scanning of the scene and in the ability to anticipate object's action.


Assuntos
Atenção , Transtorno do Espectro Autista/fisiopatologia , Comportamento Social , Transtorno do Espectro Autista/psicologia , Estudos de Casos e Controles , Pré-Escolar , Medições dos Movimentos Oculares , Feminino , Fixação Ocular , Humanos , Lactente , Masculino
3.
Geobiology ; 14(2): 150-62, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-26560641

RESUMO

This study is focused on the (micro)biogeochemical features of two close geothermal sites (FAV1 and FAV2), both selected at the main exhalative area of Pantelleria Island, Italy. A previous biogeochemical survey revealed high CH4 consumption and the presence of a diverse community of methanotrophs at FAV2 site, whereas the close site FAV1 was apparently devoid of methanotrophs and recorded no CH4 consumption. Next-Generation Sequencing (NGS) techniques were applied to describe the bacterial and archaeal communities which have been linked to the physicochemical conditions and the geothermal sources of energy available at the two sites. Both sites are dominated by Bacteria and host a negligible component of ammonia-oxidizing Archaea (phylum Thaumarchaeota). The FAV2 bacterial community is characterized by an extraordinary diversity of methanotrophs, with 40% of the sequences assigned to Methylocaldum, Methylobacter (Gammaproteobacteria) and Bejerickia (Alphaproteobacteria); conversely, a community of thermo-acidophilic chemolithotrophs (Acidithiobacillus, Nitrosococcus) or putative chemolithotrophs (Ktedonobacter) dominates the FAV1 community, in the absence of methanotrophs. Since physical andchemical factors of FAV1, such as temperature and pH, cannot be considered limiting for methanotrophy, it is hypothesized that the main limiting factor for methanotrophs could be high NH4(+) concentration. At the same time, abundant availability of NH4(+) and other high energy electron donors and acceptors determined by the hydrothermal flux in this site create more energetically favourable conditions for chemolithotrophs that outcompete methanotrophs in non-nitrogen-limited soils.


Assuntos
Archaea/classificação , Archaea/isolamento & purificação , Bactérias/classificação , Bactérias/isolamento & purificação , Biota/efeitos da radiação , Energia Geotérmica , Microbiologia do Solo , Amônia/análise , Archaea/genética , Archaea/metabolismo , Bactérias/genética , Bactérias/metabolismo , Sequenciamento de Nucleotídeos em Larga Escala , Itália , Metano/metabolismo , Solo/química
4.
Earth Planets Space ; 67(1): 174, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-27656101

RESUMO

Furnas volcano, in São Miguel island (Azores), being the surface expression of rising hydrothermal steam, is the site of intense carbon dioxide (CO2) release by diffuse degassing and fumaroles. While the diffusive CO2 output has long (since the early 1990s) been characterized by soil CO2 surveys, no information is presently available on the fumarolic CO2 output. Here, we performed (in August 2014) a study in which soil CO2 degassing survey was combined for the first time with the measurement of the fumarolic CO2 flux. The results were achieved by using a GasFinder 2.0 tunable diode laser. Our measurements were performed in two degassing sites at Furnas volcano (Furnas Lake and Furnas Village), with the aim of quantifying the total (fumarolic + soil diffuse) CO2 output. We show that, within the main degassing (fumarolic) areas, the soil CO2 flux contribution (9.2 t day-1) represents a minor (~15 %) fraction of the total CO2 output (59 t day-1), which is dominated by the fumaroles (~50 t day-1). The same fumaroles contribute to ~0.25 t day-1 of H2S, based on a fumarole CO2/H2S ratio of 150 to 353 (measured with a portable Multi-GAS). However, we also find that the soil CO2 contribution from a more distal wider degassing structure dominates the total Furnas volcano CO2 budget, which we evaluate (summing up the CO2 flux contributions for degassing soils, fumarolic emissions and springs) at ~1030 t day-1.

5.
Minerva Pediatr ; 66(3): 187-99, 2014 Jun.
Artigo em Italiano | MEDLINE | ID: mdl-24826975

RESUMO

AIM: The aim of this study was to evaluate adverse drug reactions (ADRs) of psychotropic medications in childhood. METHODS: One hundred and two children and adolescents (M 82.4%, F 17.6%) followed-up at the Division of Child Neurology and Psychiatry at the University of Messina, and at the Scientific Institute Child Neurology and Psychiatry, IRCCS Stella Maris, Calambrone, Pisa, were recruited between January 2009 and December 2011. All participants met DSM-IV diagnostic criteria for psychiatric disorders. The data were collected using a recording sheet for ADRs. An electronic database was also used. The recording sheet was designed to note all relevant information about drug treatment and ADRs according to AIFA (Agenzia Italiana del Farmaco) suggestions. RESULTS: The most prescribed drugs were: risperidone (19.6%), aripiprazole (18.4%) and valproic acid (14.8%). The ADRs more frequently recorded had been: weight gain (12.6%), sleepiness (8.4%), and irritability (6.7%). None of recorded ADRs were classified as "serious". CONCLUSION: This study can provide a basic model to collect information on safety and tolerability of psychotropic drugs in childhood.


Assuntos
Psicotrópicos/uso terapêutico , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Estudos Longitudinais , Masculino , Farmacovigilância , Psicotrópicos/efeitos adversos , Registros
6.
Mar Pollut Bull ; 73(2): 485-94, 2013 Aug 30.
Artigo em Inglês | MEDLINE | ID: mdl-23465567

RESUMO

Shallow submarine gas vents in Levante Bay, Vulcano Island (Italy), emit around 3.6t CO2 per day providing a natural laboratory for the study of biogeochemical processes related to seabed CO2 leaks and ocean acidification. The main physico-chemical parameters (T, pH and Eh) were measured at more than 70 stations with 40 seawater samples were collected for chemical analyses. The main gas vent area had high concentrations of dissolved hydrothermal gases, low pH and negative redox values all of which returned to normal seawater values at distances of about 400m from the main vents. Much of the bay around the vents is corrosive to calcium carbonate; the north shore has a gradient in seawater carbonate chemistry that is well suited to studies of the effects of long-term increases in CO2 levels. This shoreline lacks toxic compounds (such as H2S) and has a gradient in carbonate saturation states.


Assuntos
Dióxido de Carbono/análise , Monitoramento Ambiental/métodos , Água do Mar/química , Poluentes Químicos da Água/análise , Baías/química , Carbonato de Cálcio/análise , Dióxido de Carbono/química , Carbonatos/análise , Carbonatos/química , Itália , Poluentes Químicos da Água/química
7.
J Prev Med Hyg ; 51(1): 20-7, 2010 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-20853672

RESUMO

BACKGROUND: Europe constitutes a major pole of attraction for the migratory fluxes. The migrating population is made up of many different individuals, carrying different projects of life and expectations. The consistence of the phenomena, in few decades, will be responsible for deep changes in the demographic structure of the European population. The purpose of this investigation was to attempt to draw an identikit of migrating people and to evaluate those factors which may be considered important to positively influence the process of stabilization. Moreover, the research tried to evaluate the differences among those migrating people who have recently arrived, still considering this country as a landing shore, and those who have definitely settled in Sicily. METHODS: The research was carried out through a 42 items multiple choice answer questionnaire administered to two groups of individuals who were born in a non European Union (EU) country. Individuals, who were still trying to settle (group A), were chosen at random in the streets of the city, while individuals with a solid and integrated family were chosen at random from the municipality of Palermo, Sicily. To compare the two different groups of individuals Student's t and Chi square tests were used together with standard descriptive statistics and linear regression analysis. RESULTS: Results seem to indicate that positive factors for integration are years of residence in the same place, support from the family since the very beginning of the migratory project, stable interethnic social structure. What did not seem to constitute determining factors in the territory analysed are: age, gender, country of origin, religion. Higher education levels apparently play a negative role. Child bearing indexes are higher than European levels. Birth rate was use in the attempt of modelling a projection of population growth. DISCUSSION: The collected data brings forth the snapshot of the typical immigrant as a young strong healthy individual, longing to start a family on safe values, who accepts transitory precarious living conditions in order to improve them. The major negative factors in the migratory project are those of social nature. Governments have generally adopted a politics of control on entry and of managing the emergency. There is a need for a politics of empowerment and exploitation of the capacity of the migrants. Deep changes occurring in the demographic structure of the European population might influence the social contest. Decrease European birth rate and increasing immigration may create a melting pot, where Europeans may take a role of an endangered species.


Assuntos
Aculturação , Emigrantes e Imigrantes/estatística & dados numéricos , Emigração e Imigração/tendências , Adolescente , Adulto , Criança , Pré-Escolar , Demografia , Emigração e Imigração/estatística & dados numéricos , Feminino , Humanos , Lactente , Modelos Lineares , Masculino , Crescimento Demográfico , Sicília
8.
Neurosci Res ; 59(1): 47-50, 2007 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-17597242

RESUMO

Mental retardation is the most common developmental disability affecting 2-3% of the population, a consequence of a wide range of genetic or nongenetic etiologic factors. The cause of mental retardation remains unknown in about 50% of cases. Trp53 (transformation related protein 53, also known as p53) is a tumor suppressor gene that activates the expression of genes involved in inducing growth arrest of cells in response to multiple forms of cellular stress and it plays a significant role in apoptotic cell death during the early development of the nervous system. In this study, we examined 246 children with nonsyndromic mental retardation from three Italian populations and 213 healthy children from the same populations. We observed that the Pro72/Pro72 genotype of p53 is much less represented in children with nonsyndromic mental retardation than in controls (6.5% versus 14.08%) (OR=0.42; 95% CI 0.21-0.83). These data suggest that subjects carrying the Pro allele are protected from this disease.


Assuntos
Códon/genética , Predisposição Genética para Doença , Deficiência Intelectual/genética , Polimorfismo Genético , Proteína Supressora de Tumor p53/genética , Adolescente , Criança , Pré-Escolar , Feminino , Frequência do Gene , Genótipo , Humanos , Masculino , Razão de Chances , Prolina/genética
9.
Minerva Pediatr ; 58(2): 109-20, 2006 Apr.
Artigo em Italiano | MEDLINE | ID: mdl-16835571

RESUMO

AIM: Recent studies on the neuroanatomic, neurofunctional and/or neurochemical features of the autistic disorder (AD) gave many evidences suggesting the hypothesis that different organic factors may lead to a disruption of the cerebral development finally expressing with an autistic pattern. The aim of this study was to study a sample of subjects with AD with a wide protocol, including neurophysiological and radiological investigations as well as laboratory investigations in order to investigate the neurobiologic basis of the syndrome. METHODS: The patients group included 80 subjects diagnosed as having AD. All were examined with a protocol of investigations including: brain MRI; wakefulness and sleep EEG; VEP, ABR; karyotype and search of the fragile X; serum and urinary levels of serotonin, catecolamines, omovanillic acid, aminoacids, ammonium, lactic acid, creatine kinase, piruvic acid, calcium, uric acid, total proteins, antibodies against neurotrophic agents. RESULTS: Eighty-eight percent of subjects had at least one pathologic neurobiological parameter. CONCLUSIONS: This study highlights the different noxae involved in the etiopathogenesis of AD and the percentage that every biological factor has in the development of the autistic phenotype. Furthermore, it confirms that AD corresponds to an atypical behavioural phenotype expression of a cerebral dysfunction with heterogeneous etiology.


Assuntos
Transtorno Autístico/genética , Transtorno Autístico/patologia , Transtorno Autístico/metabolismo , Encéfalo/patologia , Criança , Pré-Escolar , Cromossomos Humanos X/genética , Potenciais Evocados Auditivos do Tronco Encefálico/fisiologia , Feminino , Humanos , Cariotipagem , Imageamento por Ressonância Magnética , Masculino , Serotonina/sangue , Serotonina/urina
10.
Br J Surg ; 91(4): 457-9, 2004 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-15048747

RESUMO

BACKGROUND: The aim of this study was to determine whether the morphology of rectal cancer predicts outcome following treatment by local excision, and whether morphology should therefore be added to the criteria presently used for case selection. METHODS: The hospital notes and histological findings of 91 patients who had undergone a local surgical procedure for rectal cancer were reviewed retrospectively. Eight patient and tumour characteristics including morphology were analysed with respect to 5-year survival, local recurrence and cancer-specific death within 5 years. Morphology was divided into four types: polypoid, sessile, ulcerated and flat raised. RESULTS: Survival and local recurrence were significantly better for patients with exophytic (polypoid and sessile) carcinomas than for those with non-exophytic (ulcerated and flat raised) lesions. Multivariate logistic regression analysis showed that age, depth of invasion, lymphatic invasion and venous invasion were significant predictors of outcome. The exophytic group included significantly more stage T1 and fewer T2 and T3 cancers, and a significantly smaller proportion of tumours that showed venous and lymphatic invasion than the non-exophytic group. CONCLUSION: Morphology is a clinical guide to prognosis after local excision. Non-exophytic cancers are associated with high-risk histopathological features that render tumours of this type unsuitable for local excision.


Assuntos
Neoplasias Retais/patologia , Humanos , Recidiva Local de Neoplasia/mortalidade , Recidiva Local de Neoplasia/patologia , Prognóstico , Neoplasias Retais/mortalidade , Neoplasias Retais/cirurgia , Análise de Regressão , Reoperação , Estatísticas não Paramétricas , Análise de Sobrevida
11.
Eur J Paediatr Neurol ; 3(1): 7-13, 1999.
Artigo em Inglês | MEDLINE | ID: mdl-10727186

RESUMO

The aim of this study was to determine whether perceptual-motor competence in school-age children with Down syndrome was generally delayed or varied as a function of type of action. Twenty-two children with Down syndrome (13 males, 9 females), aged between 4.5 and 14 years were assessed on two standardized tests, the Movement Assessment Battery for Children (Movement ABC), a test of motor competence assessing gross and fine motor coordination, and on the Developmental Test of Visual-Motor Integration, a test focusing on shape copying. In order to obtain a profile of each child's performance on the different items contained in the Movement ABC, the test was used in its extended form. This involves testing any child who failed an item appropriate for his/her level, at progressively lower levels until a base-line measure was obtained. All the children obtained scores below the 5th percentile for their age on both tests. However, superimposed on this delay, we found distinct variation as a function of task. Whereas some aspects of gross motor function showed age development with delayed but regular acquisitions, all the aspects of fine motor skills assessed were more severely impaired and showed little development with age. Accuracy and timing of tasks requiring bimanual coordination were most impaired in our sample while balance and ball skills showed more variability. These results suggest that intervention in the motor domain should be varied according to each child's particular profile of performance.


Assuntos
Síndrome de Down/complicações , Transtornos da Percepção/etiologia , Transtornos Psicomotores/etiologia , Adolescente , Criança , Pré-Escolar , Transtornos Cognitivos/diagnóstico , Transtornos Cognitivos/etiologia , Feminino , Humanos , Masculino , Testes Neuropsicológicos , Transtornos da Percepção/diagnóstico , Transtornos Psicomotores/diagnóstico , Índice de Gravidade de Doença
12.
J Chir (Paris) ; 132(2): 70-9, 1995 Feb.
Artigo em Francês | MEDLINE | ID: mdl-7751344

RESUMO

A new procedure to supply effective anastomotic blood supply via the omentum transpositioned to the hip in cases of impaired lower limb vascularization was proposed in 16 cases of stage III and stage IV obliterative artherosclerosis including one case of massive venous thrombosis. The results demonstrated that under rigorously controlled fundamental conditions, circulation can be established and the limb can be saved. 1--good omentum vascularization is essential: the two gastroepiploic arteries must have a large caliber and form a complete anastomotic circle. 2--After disconnecting the omentum from the stomach, while carefully protecting the gastro-epiploic arcade, one pedicle is sectioned and the other is saved depending upon the side the omentum is transpositioned. It is best to save the right pedicle which has a stronger flow even for the left limb. If the omentum is ample enough, the anatomic situation does not require a lengthening plasy. 3--If the omentum is insufficiently long, it is lengthened by a second counter-section between the two gastro-epiploic and epiploic arcades. The ends of the arcades can thus be placed in direct contact forming a unique continuous arcade. This plasty is only possible if the anastomotic circle of the gastro-epiploic arcade is complete. 4--Transposition to the hip is made by including the omentum between the rectus and its posterior sheath through a newly formed channel widening the crural canal. The omentum is thus incorporated as a bridge forming a major circulatory route between the subclavian artery and the pelvic and lower limb arteries. 5--We recommend transpositioning the omentum after lumbar sympathectomy to favour strong vasodilatation and lower flow resistance helping create favourable conditions for the new anastomotic circulation. 6--Based on these specific conditions, we have had excellent results in 80% of the cases for the entire life-span of the patients who underwent the operation. The two cases with poor results occurred after a major technical error due to a lengthening plasty on an omentum without a complete gastro-epiploic arcade.


Assuntos
Arteriosclerose Obliterante/cirurgia , Omento/cirurgia , Coxa da Perna/cirurgia , Tromboflebite/cirurgia , Idoso , Anastomose Cirúrgica , Angiografia , Arteriosclerose Obliterante/diagnóstico por imagem , Arteriosclerose Obliterante/mortalidade , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Tromboflebite/diagnóstico por imagem , Tromboflebite/mortalidade
13.
Minerva Chir ; 44(10): 1457-63, 1989 May 31.
Artigo em Italiano | MEDLINE | ID: mdl-2771093

RESUMO

Personal surgical experience of 7 cases of typical gallstone ileus and 2 cases of Bouveret's syndrome secondary to spontaneous bilio-digestive fistula of lithiasic aetiology are reported. After analysing the problems inherent in the clinical picture and the diagnostic protocol, stress is laid on the therapeutic strategies employable in the event of typical gallstone ileus. It is concluded that single stage correction of the bilio-digestive occlusion and fistula is always preferable except in patients whose general condition is very poor. Patients should initially be submitted to treatment of intestinal occlusion alone.


Assuntos
Colelitíase/complicações , Obstrução Intestinal/etiologia , Idoso , Fístula Biliar/etiologia , Fístula Biliar/cirurgia , Colelitíase/cirurgia , Diagnóstico Diferencial , Duodenopatias/etiologia , Duodenopatias/cirurgia , Obstrução Duodenal/etiologia , Obstrução Duodenal/cirurgia , Feminino , Doenças da Vesícula Biliar/etiologia , Doenças da Vesícula Biliar/cirurgia , Humanos , Fístula Intestinal/etiologia , Fístula Intestinal/cirurgia , Obstrução Intestinal/cirurgia , Masculino , Pessoa de Meia-Idade , Síndrome
15.
J Neurol Sci ; 73(3): 233-44, 1986 May.
Artigo em Inglês | MEDLINE | ID: mdl-3088212

RESUMO

The immunohistological localization of chondroitin sulfate (CS) has been studied in normal and pathological human muscle. The bovine nasal cartilage proteoglycan digested with chondroitinase ABC (BNC-PG-Ch ABC) has been utilized for the production of a rabbit polyclonal antiserum. In vitro studies showed that the antiserum binds to the unsaturated disaccharide that remains attached to the core protein after digestion of the CS chains with chondroitinase ABC (Ch ABC). As the disaccharide is created specifically by Ch ABC digestion of the CS chains, the antiserum allows the immunolocalization of CS on tissue sections digested with Ch ABC. The immunohistochemical study on normal and pathological muscle demonstrated a localization of CS in all the extracellular structures: endomysium, perimysium, muscle spindle capsule and intrafusal space. In pathological conditions, the CS was raised in all the cases with increased connective tissue, showing a pattern comparable to that obtained with fibronectin and collagen III. None of the pathological conditions displayed any peculiar character of CS distribution. This finding does not support a primary role for CS in the pathogenesis of muscular dystrophy.


Assuntos
Sulfatos de Condroitina/metabolismo , Condroitina/análogos & derivados , Músculos/metabolismo , Doenças Neuromusculares/metabolismo , Especificidade de Anticorpos , Vasos Sanguíneos/metabolismo , Sulfatos de Condroitina/imunologia , Humanos , Músculos/irrigação sanguínea , Distrofias Musculares/metabolismo , Síndrome
16.
J Neurol Sci ; 72(2-3): 201-9, 1986 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-3711934

RESUMO

Quadriceps muscle biopsy was performed in 7 definite and 45 possible carriers of Duchenne muscular dystrophy. Unequivocal morphological changes were observed in 8 women; all but one of them were already detected as carriers by increased serum CK. Histometric analysis of muscle biopsy was performed on two fibre types (type 1 and type 2) in all 52 women; in 38 of them the two subgroups of type 2 fibres (type 2a and type 2b) were also quantified. Results of histometric analysis were matched with control values obtained from 30 healthy females in the same age as the carriers (20-50 yr). Histometric analysis on two fibre types detected a percentage of carriers (27%) much lower than that detected by serum CK determination (44%). The detection rate of combined serum CK determination and histometric analysis of muscle biopsy was: 100% in definite carriers, 65% in mothers possible carriers, 38% in sisters and 25% in the group of cousins and aunts. The histometric parameters most frequently altered were atrophy factor and variability coefficient of mean diameter. Histometric analysis carried out on three fibre types in 38 women detected 2 more carriers showing atrophy of type 2b fibres. The results indicate that quantitative analysis of muscle biopsy may be used to detect some possible carriers with normal serum CK. However, an adequate number of controls is mandatory; in fact the detection rate of histometric analysis of muscle biopsy decreased by increasing the number of controls, resulting much lower than previously reported.


Assuntos
Músculos/patologia , Distrofias Musculares/genética , Adulto , Teorema de Bayes , Biópsia , Creatina Quinase/sangue , Feminino , Triagem de Portadores Genéticos , Humanos , Pessoa de Meia-Idade , Distrofias Musculares/patologia , Risco
18.
J Biomol Struct Dyn ; 1(6): 1473-84, 1984 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-6443875

RESUMO

The conformation of adducts derived from the reactions and covalent binding of the (+) and (-) enantiomers of 7 beta, 8 alpha-dihydroxy-9 alpha, 10 alpha-epoxy-7,8,9,10-tetrahydrobenzo(a)pyrene (anti-BaPDE) with double-stranded calf thymus DNA in vitro were investigated utilizing the electric linear dichroism technique. The linear dichroism and absorption spectra of the covalent DNA complexes are interpreted in terms of a superposition of two types of binding sites. One of these conformations (site I) is a complex in which the plane of the pyrene residue is close to parallel (within 30 degrees) to the planes of the DNA bases (quasi-intercalation), while the other (site II) is an external binding site; this latter type of adduct is attributed to the covalent binding of anti-BaPDE to the exocyclic amino group of deoxyguanine (N2-dG), while site I adducts are attributed to the O6-deoxyguanine and N6-deoxyadenine adducts identified in the product analysis of P. Brookes and M.R. Osborne (Carcinogenesis (1982) 3, 1223-1226). Site II adducts are dominant (approximately 90% in the covalent complexes derived from the (+) enantiomer), but account for only 50 +/- 5% of the adducts in the case of the (-)-enantiomer. The orientation of site II complexes is different by 20 +/- 10 degrees in the adducts derived from the binding of the (+) and the (-) enantiomers to DNA, the long axis of the pyrene chromophore being oriented more parallel to the axis of the DNA helix in the case of the (+) enantiomer. These findings support the proposals by Brookes and Osborne that the difference in spatial orientation of the N2-dG adducts of (-)-anti-BaPDE together with their lower abundance may account for the lower biological activity of the (-) enantiomer. The external site II adducts, rather than site I adducts, appear to be correlated with the biological activity of these compounds.


Assuntos
7,8-Di-Hidro-7,8-Di-Hidroxibenzo(a)pireno 9,10-óxido , Adutos de DNA , DNA , Di-Hidroxi-Di-Hidrobenzopirenos , Sítios de Ligação , Conformação Molecular , Estrutura Molecular , Espectrofotometria , Estereoisomerismo
19.
J Endocrinol Invest ; 7(2): 89-92, 1984 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-6327799

RESUMO

We describe 5 adult women with severe hirsutism due to late onset 21-hydroxylase deficiency. Diagnosis was performed on the finding of high serum 17-hydroxyprogesterone (17OHP) levels with a marked hyperresponse to an ACTH test. The endocrine study showed in most patients a gonadotropin behavior similar to that observed in classical polycystic ovary (PCO) syndrome. Prolactin levels were slightly increased in basal conditions and presented an exaggerated response to TRH stimulation.


Assuntos
Hiperplasia Suprarrenal Congênita , Hirsutismo/enzimologia , Hidroxiprogesteronas/sangue , Esteroide Hidroxilases/deficiência , 17-alfa-Hidroxiprogesterona , Adolescente , Hormônio Adrenocorticotrópico , Adulto , Feminino , Hormônio Foliculoestimulante/sangue , Hormônios Esteroides Gonadais/sangue , Hirsutismo/sangue , Hirsutismo/diagnóstico , Humanos , Hormônio Luteinizante/sangue , Prolactina/sangue , Esteroide 21-Hidroxilase/sangue
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