Browsing by Issue Date, starting with "1999"
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- Study on COgnition and Prognosis in the Elderly (SCOPE)Publication . HANSSON, L.; LITHELL, H.; SKOOG, I.; BARO, F; BANKI, C.M.; BRETELER, M.; CARBONIN, P.U.; CASTAIGNE, A.; CORREIA, M.; DEGAUTE, J.P.; ELMFELDT, D.; ENGEDAL, K.; FARSANG, C.; FERRO, J.; HACHINSKI, V.; HOFMAN, A.; JAMES, O.F.; KRISIN, E.; LEEMAN, M.; DE LEEUW, P.W.; LEYS, D.; LOBO, A.; NORDBY, G.; OLOFSSON, B.; ZANCHETTI, A.; ET ALBlood Press. 1999;8(3):177-83. Study on COgnition and Prognosis in the Elderly (SCOPE). Hansson L, Lithell H, Skoog I, Baro F, Bánki CM, Breteler M, Carbonin PU, Castaigne A, Correia M, Degaute JP, Elmfeldt D, Engedal K, Farsang C, Ferro J, Hachinski V, Hofman A, James OF, Krisin E, Leeman M, de Leeuw PW, Leys D, Lobo A, Nordby G, Olofsson B, Zanchetti A, et al. University of Uppsala, Department of Public Health, Sweden. Abstract The Study on COgnition and Prognosis in the Elderly (SCOPE) is a multicentre, prospective, randomized, double-blind, parallel-group study designed to compare the effects of candesartan cilexetil and placebo in elderly patients with mild hypertension. The primary objective of the study is to assess the effect of candesartan cilexetil on major cardiovascular events. The secondary objectives of the study are to assess the effect of candesartan cilexetil on cognitive function and on total mortality, cardiovascular mortality, myocardial infarction, stroke, renal function, hospitalization, quality of life and health economics. Male and female patients aged between 70 and 89 years, with a sitting systolic blood pressure (SBP) of 160-179 mmHg and/or diastolic blood pressure (DBP) of 90-99 mmHg, and a Mini-Mental State Examination (MMSE) score of 24 or above, are eligible for the study. The overall target study population is 4000 patients, at least 1000 of whom are also to be assessed for quality of life and health economics data. After an open run-in period lasting 1-3 months, during which patients are assessed for eligibility and those who are already on antihypertensive therapy at enrolment are switched to hydrochlorothiazide 12.5 mg o.d., patients are randomized to receive either candesartan cilexetil 8 mg once daily (o.d.) or matching placebo o.d. At subsequent study visits, if SBP remains >160 mmHg, or has decreased by <10 mmHg since the randomization visit, or DBP is >85 mmHg, study treatment is doubled to candesartan cilexetil 16 mg o.d. or two placebo tablets o.d. Recruitment was completed in January 1999. At that time 4964 patients had been randomized. All randomized patients will be followed for an additional 2 years. If the event rate is lower than anticipated, the follow-up will be prolonged. PMID: 10595696 [PubMed - indexed for MEDLINE]
- Hiperhomocisteinemia no transplante renal – prevalência, distribuição e determinantesPublication . Fonseca, IsabelIntrodução: A doença cardiovascular é uma complicação major do transplante renal (TR). A hiperhomocisteinemia (HHC) é considerada actualmente, como um factor de risco independente da aterosclerose. Apenas um número limitado de estudos analisou este "novo" factor de risco na população com TR. Do nosso conhecimento, nenhum deles português. Objectivos: A realização deste estudo pretendeu: a) determinar a prevalência de HHC basal; b) analisar a distribuição dos valores plasmáticos de homocisteína basal total (HC) e de vitaminas B6, B12 e ácido fólico; c) identificar, por análise univariada e multivariável, os determinantes da concentração de HC e os factores preditores da HHC numa amostra de transplantados renais. Participantes e Métodos: Foi efectuado o doseamento analítico da HC e vitaminas B6, B12 e ácido fólico (sérico e eritrocitário) em 202 indivíduos com TR (89 Mulheres; 113 Homens), com tempo de TR superior a 6 meses. Foram também determinadas outras variáveis analíticas potencialmente relevantes e recolhidos factores demográficos e associados ao pré e ao pós TR, nomeadamente a função renal, terapêutica actual e outros factores de risco para a aterosclerose. Considerou-se a presença de HHC quando os valores excederam os 15 nmol/L Resultados: A percentagem de HHC foi de 48.7%, atingindo maioritariamente o sexo masculino, que apresentou valores de HC 22% mais elevados que o sexo feminino. A HC correlacionou-se inversa e significativamente com a concentração de vitaminas B12 (r=-0.27, p<0.001) e ácido fólico sérico (r=-0.36, p<0.001) e eritrocitário (r=-0.25, p<0.01). A correlação entre a HC e a creatinina, ureia e ácido úrico séricos foi positiva e significativa (r=0.55, p<0.001 ; r=0.49; p<0.001 e r=0.51, p<0.001, respectivamente). Os valores de HC aumentaram significativamente com o tempo de TR (r=0.21, p=0.003) e com o número de dias de internamento após o TR (r=0.25, p<0.001). Não foi obtida correlação entre a idade e a HC. Por análise de regressão linear múltipla, o ácido úrico e creatinina séricos, antecedentes de doença vascular, sexo, terapêutica com antiadrenérgicos de acção central e ácido fólico eritrocitário foram os determinantes independentes e significativos (p<0.05) da concentração de HC, permitindo explicar 46.7% da sua variação. Nenhum dos factores de risco para a aterosclerose considerados se associou significativamente com a presença de hiperhomocisteinemia, quer por análise univariada quer multivariável. Após ajuste, por regressão logística, a vitamina B12, ácido fólico eritrocitário, creatinina sérica e número de anti-hipertensores foram os factores preditores significativos da ocorrência de HHC. Conclusão: A HHC ocorreu em quase metade da nossa amostra, atingindo maioritariamente o sexo masculino. A concentração da HC tende a aumentar com a deterioração da função renal e com a diminuição dos valores de vitamina B12 e ácido fólico, apesar da ausência de défices significativos das vitaminas doseadas. Ao contrário da população geral, não foi obtida uma correlação entre a idade e a HC. A ocorrência de HHC foi independente de qualquer outro factor de risco para a aterosclerose. O ácido fólico foi um determinante significativo na concentração HC e um preditor importante da ocorrência de HHC, juntamente com a vitamina B12, o que permite sugerir a possibilidade de intervenção neste factor de risco.
- Contribuição para o estudo da sensibilidade à insulina na obesidade e no síndrome metabólicoPublication . Cardoso, Maria Helena
- Video-game epilepsy: a European study.Publication . KASTELEIJN‐NOLST TRENITÉ, D.G.; DA SILVA, A.M.; RICCI, S.; BINNIE, C.D.; RUBBOLI, G.; TASSINARI, C.A.; SEGERS, J.P.Epilepsia. 1999;40 Suppl 4:70-4. Video-game epilepsy: a European study. Kasteleijn-Nolst Trenité DG, da Silva AM, Ricci S, Binnie CD, Rubboli G, Tassinari CA, Segers JP. Stichting Epilepsie Instellingen Nederland, Heemstede, The Netherlands. bowo@sein.nl Abstract With the introduction of Nintendo video-games on a large scale, reports of children having seizures while playing suggested a possible specific, provocative factor. Although 50% of the photosensitive patients are also sensitive to a 50-Hz television, nonphotosensitive patients with a history of video-game seizures were described as well. The question arises whether this is a mere coincidence, provoked by fatigue and stress, is related to the reaction to the television screen itself, or depends on the movement and color of the pictures of this specific game. A European study was performed in four countries and five sites. All patients were selected because of a history of television, video- or computer-game seizures, with a history of sun-light-, discotheque-, or black and white pattern-evoked seizures, or were already known to be sensitive to intermittent photic stimulation. A total of 387 patients were investigated; 220 (75%) were female and 214 (55%) of those were < 18 years of age. After a routine examination, intermittent photic, pattern, and television stimulation were performed in a standardized way. The patients were investigated with Super Mario World and a standard relatively nonprovocative TV program, both on a 50- and 100-Hz television. Regardless of the distance, Super Mario World proved to be more provocative than the standard program (Wilcoxon, p < 0.05). Eighty-five percent showed epileptiform discharges evoked by intermittent photic stimulation. Forty-five percent of patients were 50-Hz television sensitive and 26% were 100-Hz television sensitive. Pattern sensitivity was found in 28% of patients. The patients, referred because of a television, video- or computer-game seizure, were significantly more sensitive to pattern and to the 50-Hz television (chi square, p < 0.001). More patients are sensitive when playing Super Mario, compared with the standard program (Wilcoxon, p = 0.001) and more sensitive with playing versus viewing (p = 0.016). Of the patients who were referred because of seizures in front of the television, or evoked by a video- or computer game, 14% proved not to be photosensitive. Although no difference in age or use of medication was found, twice as many men were found in this nonphotosensitive group. PMID: 10487177 [PubMed - indexed for MEDLINE]
- Clinical Heterogeneity of Autosomal Recessive Spastic Paraplegias: Analysis of 106 Patients in 46 FamiliesPublication . Coutinho, P.; Barros, J.; Zemmouri, R.; Guimarães, J.; Alves, C.; Chorão, R.; Lourenço, E.; Ribeiro, P.; Loureiro, J.; Santos, J.; Hamri, A.; Paternotte, C.; Hazan, J.; Silva, M.; Prud'homme, F.; Grid, D.Background Hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurodegenerative disorders characterized by progressive and predominant spasticity of the lower limbs, in which dominant, recessive, and X-linked forms have been described. While autosomal dominant HSP has been extensively studied, autosomal recessive HSP is less well known and is considered a rare condition. Objective To analyze the clinical presentation in a large group of patients with autosomal recessive HSP from Portugal and Algeria to define homogeneous groups that could serve as a guide for future molecular studies. Results Clinical features in 106 patients belonging to 46 Portuguese and Algerian families with autosomal recessive HSP are presented, as well as the results of molecular studies in 23 of these families. Five phenotypes are defined: (1) pure early-onset families, (2) pure late-onset families, (3) complex families with mental retardation, (4) complex families with mental retardation and peripheral neuropathy, and (5) complex families with cerebellar ataxia. Six additional families have specific complex presentations, each of which is unique in the present series. Pyramidal signs in the upper limbs and pes cavus are frequent findings, while pseudobulbar signs, including dysarthria, dysphagia, and brisk jaw jerks, are more frequent in the complex forms. The complex forms have a poorer prognosis, while pure forms, particularly those with early onset, are more benign. One Algerian pure early-onset kindred was linked to the locus on chromosome 8, previously reported in 4 Tunisian families. Two of the Portuguese kindreds with complex forms (one with mental retardation and the other associated with hypoplasia of the corpus callosum) showed linkage to the locus recently identified on chromosome 16. Conclusions Although autosomal recessive HSP represents a heterogeneous group of diseases, some phenotypes can be defined by analyzing a large group of patients. The fact that only one Algerian family was linked to chromosome 8 suggests that this is a rare localization even in kindreds with the same ethnic background. Linkage to chromosome 16 was found in 2 clinically diverse Portuguese kindreds, illustrating that this locus is also rare and may correspond to different phenotypes.
- Acute scrotumPublication . OLIVEIRA, A.; DE CARVALHO, L.F.Acta Med Port. 1999 Jan-Mar;12(1-3):39-45. [Acute scrotum] [Article in Portuguese] Oliveira A, de Carvalho LF. Unidade de Andrologia, Hospital Geral de Santo António, Porto. Abstract Painful scrotum is a clinical entity that includes a variety of diseases, such as torsion of the spermatic cord, infectious conditions, injuries and oncology. This condition is more common in infants or youths. It is extremely important to recognize this condition and treat it promptly if the testicle is to be saved. PMID: 10423872 [PubMed - indexed for MEDLINE]
- HematuriaPublication . MILHEIRO, A.; PRISCO, R.Acta Med Port. 1999 Jan-Mar;12(1-3):13-7. [Hematuria]. [Article in Portuguese] Milheiro A, Prisco R. Serviço de Urologia, Hospital Geral de Santo António, Porto. Abstract Patients referred for hematuria work-up are frequently seen in the urologic practice. The initial evaluation does not require the participation of a urologist or nephrologist, due to the false sense of security in the evaluation of an asymptomatic and persistent hematuria. In fact, an adequate history and physical followed by urinalysis and radiologic tests, such as IVP and ultrasonography, must be made in the initial evaluation to exclude any serious urologic/nephrologic disease. PMID: 10423867 [PubMed - indexed for MEDLINE]
- Cardiac involvement in metabolic diseasesPublication . PEREIRA, A.; MARTINS, E.; CARVALHO, C.; ALVARES, S.Rev Port Cardiol. 1999 Jan;18(1):53-7. [Cardiac involvement in metabolic diseases] [Article in Portuguese] Pereira A, Martins E, Carvalho C, Alvares S. Unidade de Cardiologia Pediátrica, Hospital de Crianças Maria Pia. Erratum in: Rev Port Cardiol 1999 Feb;18(2):131. Abstract OBJECTIVE: To evaluate cardiac involvement in children with metabolic disease in the out patient clinic of the Pediatric Cardiology Unit of Maria Pia Children's Hospital and their follow-up. MATERIAL AND METHODS: Twenty-nine medical records belonging to out patients with metabolic disease in consultation at our unit were reviewed. The following data from each record was analyzed: sex, metabolic disease diagnosis, age and motive for referral to a pediatric cardiology unit, cardiology diagnosis, therapy and evolution. RESULTS: Seventeen patients were boys and 12 girls. The average age of referral was 7.2 years (SD 4.8). The motives for referral were: screening for heart disease, 16; heart murmur, 7; congestive heart failure, 3; heart murmur and fatigue, 2; poor weight gain, 1. The following metabolic diagnoses were made: lysosomal diseases, 21; mitochondrial citopathies, 5; disorder of beta-oxidation of fatty acids, 2; carbohydrate deficient glycoprotein syndrome (CDG syndrome), 1. The cardiologic evaluation was normal in ten patients (4 with lysosomal disease, 4 with mitochondrial citopathy, one disorder of beta-oxidation of fatty acids, the CDG syndrome). Mitral and aortic valve lesions predominated in lysosomal diseases (12/21); myocardial involvement alone was present in two patients, and both myocardial and valvular lesions were present in three. Dilated cardiomyopathy was the presented manifestation in two patients-one with mitochondrial citopathy and one with a disorder of beta-oxidation of fatty acids. Three patients died and 26 remain out-patients. One patient was submitted to valve surgery. The average duration of follow-up was 21 months (SD 24). COMMENTS: Lysosomal diseases were the most representative in our patients, as described in the literature. Heart valve disease was the most frequent alteration. Indication for heart valve surgery is dependent on systemic involvement of the primary disease. All children with a metabolic disease with eventual heart involvement should be evaluated periodically by a cardiology unit. On the other hand, it is mandatory to screen a cardiomyopathy of unknown cause for a metabolic disease. The authors draw attention to the importance of infectious endocarditis prophylaxis in this group of patients. PMID: 10091525 [PubMed - indexed for MEDLINE
- Unexpected pattern of beta-globin mutations in beta-thalassaemia patients from northern PortugalPublication . Cabeda, J.; Correia, C.; Estevinho, A.; Simões, C.; Amorim, M.; Pinho, L.; Justiça, B.We characterized the genetic nature of beta-thalassaemia in northern Portugal. Of the 164 patients studied three were beta-thalassaemia major cases (one IVS-1-6/beta degrees 39 and two homozygous IVS-1-110). The analysis of the frequency of each mutation in the families revealed that the codon 6(-A) mutation was unexpectedly frequent (40%) and associated with the beta-globin haplotype E, and not with the usual European and North African CD6(-A) haplotypes. In contrast, the frequency of IVS-1-6 (8%) and beta degrees 39 (19%) was found to be lower than in the rest of the country. The frequency of all other mutations was similar to previous reports for central/southern Portugal. Six families carried none of the most frequent mutations in the Mediterranean area. These families were studied by gene sequencing, revealing that three families carried a previously described mutation (CD16 G --> A). The remaining families carried previously unidentified mutations: one showed an 86 bp insertion in exon 2 (named HGSA) and two showed a deletion of a cytidine in codon 11 (CD11(-C)). The results, showing a high frequency (82%) of beta degrees mutations, strongly indicates that genetic counselling should be intensified as a means of preventing the spread of the severe mutations found.