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1.
Int J Clin Pract ; 65(4): 420-4, 2011 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-21401831

RESUMO

INTRODUCTION: Diabetes mellitus is approaching epidemic proportions in most countries and has captured the attention of physicians at local, national and global levels. The elderly population remains at a higher risk for diabetes mellitus (1), and the disease poses unique concerns for geriatricians, primary care physicians, nurses and specialised pharmacists who provide care to the elderly. Glycaemic control, geriatric-related syndromes and cardiovascular risk factors considerably affect the elderly patient's functional status and life expectancy (2). Geriatric syndromes may include polypharmacy, chronic pain, injurious falls, cognitive impairment, urinary incontinence and depression. Higher rates of premature death; functional disability; and chronic illnesses, such as hypertension, cerebrovascular accidents, dementia and coronary artery disease, often affect elderly diabetic patients. DISCUSSION: Collaborative efforts are continually needed to allocate and maximise utilisation of resources to help empower older adults with diabetes to overcome barriers to disease management. Healthcare providers are increasingly challenged by the complexity of problems that face old patients, and must therefore be prepared to assess and treat diabetes mellitus within the milieu of many geriatric-related chronic illnesses. Healthcare providers must tailor individualised treatment methods, with the ultimate goal of not only achieving laboratory norms but also improving the quality of life for this vulnerable population. CONCLUSION: There is a need for extra care and overcoming barriers to diabetes control in old patients as a dynamic and a continuous task that needs coordination of healthcare systems and professionals at all levels of care.


Assuntos
Atenção à Saúde/organização & administração , Diabetes Mellitus/prevenção & controle , Idoso , Complicações do Diabetes/prevenção & controle , Dieta , Comportamentos Relacionados com a Saúde , Serviços de Saúde para Idosos/organização & administração , Humanos , Motivação , Avaliação das Necessidades , Aceitação pelo Paciente de Cuidados de Saúde
2.
Arch Phys Med Rehabil ; 90(7): 1094-101, 2009 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-19577021

RESUMO

OBJECTIVE: To evaluate the effects on muscle strength of salbutamol administered for 6 months using a periodic regimen in patients presenting with facioscapulohumeral muscular dystrophy (FSHD). DESIGN: Placebo-controlled double-blind randomized study. SETTING: Three clinical centers involved in neuromuscular disorders. PARTICIPANTS: Ambulatory patients (N=112), 56 per group, with genetically confirmed FSHD, age 18 to 60 years. INTERVENTIONS: Salbutamol (sustained released formulation) administered orally at a daily dose of 16 mg using a periodic dosage regimen (3 wks on, 1 wk off). MAIN OUTCOME MEASURES: Muscle strength was assessed with quantitative muscle testing (QMT), manual muscle testing (MMT), and timed motor tests. Patients were evaluated at baseline, and 3 and 6 months later. Plasma drug assays were carried out at each visit. RESULTS: There was no significant change with periodic use of salbutamol in the total composite QMT z-score, MMT score, or timed motor tests. Salbutamol was well tolerated. Lack of efficacy did not seem to be related to plasma concentrations, which were within the expected range. CONCLUSIONS: Results from this study and previous controlled trials preclude at present the use of salbutamol as routine treatment for FSHD, even if we cannot exclude improvement from anabolic effects with a longer duration of treatment.


Assuntos
Agonistas Adrenérgicos beta/uso terapêutico , Albuterol/uso terapêutico , Força Muscular/efeitos dos fármacos , Distrofia Muscular Facioescapuloumeral/tratamento farmacológico , Adolescente , Agonistas Adrenérgicos beta/administração & dosagem , Agonistas Adrenérgicos beta/efeitos adversos , Adulto , Albuterol/administração & dosagem , Albuterol/efeitos adversos , Pressão Sanguínea/efeitos dos fármacos , Preparações de Ação Retardada , Método Duplo-Cego , Esquema de Medicação , Feminino , Frequência Cardíaca/efeitos dos fármacos , Humanos , Masculino , Pessoa de Meia-Idade , Distrofia Muscular Facioescapuloumeral/fisiopatologia , Adulto Jovem
3.
Neurologia ; 19(5): 239-47, 2004 Jun.
Artigo em Espanhol | MEDLINE | ID: mdl-15150706

RESUMO

INTRODUCTION: Autosomal dominant oculopharyngeal muscular dystrophy (OPMD), with late onset due to ptosis and/or dysphagia, is caused by short (GCG)8-13 triplet-repeat expansions in the polyadenylation binding protein 2 (PABP2) gene, which is localized in chromosome 14q11. The severity of the dominant OPMD as well as the number of expansions that cause the disease are variable. (GCG)9 is mentioned as the most frequent and the genotype/phenotype has still not been well-determined. OBJECTIVE: To describe the type of expansions (GCG)n found in Spanish families with OPMD, establishing if there is variability of them and the possible geno-phenotypical correlations. METHODS: Clinicopathological and molecular studies have been performed in 15 consecutive patients, belonging to seven Spanish families with OPMD. The muscular biopsy study under electronmicroscopy shows intranuclear inclusions (INIs) in all the examined patients (one patient per family). The genetic findings confirm the cause of the disease in all the affected members and in one clinically asymptomatic member of one recently examined family: three families (six, one and one studied members, respectively) present the (GCG)9 expansion, two families (one studied member each one) present the (GCG)10 expansion and two families (one and four studied members respectively) present the (GCG)11 expansion. In these 15 patients with a short GCG expansion causing OPMD, clinical tests for OPMD and a follow-up study of their clinical course have been carefully assessed: in patients with the (GCG)9 expansion major abnormalities appeared in extrinsic ocular mobility and more precocious presentation of limb girld (lumbopelvic preferentially) weakness leading to a great disability before the seventh decade of life under the seventies in some patients and sometimes leading to death. In patients with (GCG)10 and (GCG)11 expansions, eye movements are always preserved and the limb girld muscles weakness did not appear before the seventh decade. No correlation seems to exist between age of onset of the ptosis or dysphagia and the different (GCG)n expansions and the surgical treatment of ptosis, performed in eight patients, showed good results independently of the (GCG)n mutation. CONCLUSIONS: Although further clinical and genetic studies are necessary to establish a strict genotype/phenotype correlation in OPMD, we concluded that the (GCG)9 expansion involve more severe phenotypes than those related to the (GCG)10 or (GCG)11 expansions. Therefore, genetic testing could benefit prognosis in asymptomatic individuals.


Assuntos
Distrofia Muscular Oculofaríngea/genética , Proteína II de Ligação a Poli(A)/genética , Expansão das Repetições de Trinucleotídeos , Adulto , Idoso , Feminino , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Distrofia Muscular Oculofaríngea/patologia , Fenótipo , Espanha
4.
Pacing Clin Electrophysiol ; 23(11 Pt 1): 1661-6, 2000 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-11138304

RESUMO

We studied 54 living relatives from a large French kindred, among which 17 members presented with a cardiomyopathy transmitted on an autosomal dominant mode. Five of these individuals had clinical manifestations of muscle disease phenotypically consistent with Emery-Dreifuss muscular dystrophy. Genetic analysis of this kindred had demonstrated a nonsense mutation in the LMNA gene located on chromosome 1q11-q23. This gene encodes lamins A and C, proteins of the nuclear lamina located on the inner face of the nuclear envelope. We retrospectively determined the cause of death of 15 deceased family members, 8 of whom had died suddenly, 2 as a first and single manifestation of the disease. The six other cases had histories of arrhythmias and left ventricular dysfunction before dying suddenly, and three of them died despite the prior implantation of a permanent pacemaker. The mean age of onset of cardiac symptoms among affected living family members was 33 years (range 15-47 years), and the first symptoms were due to marked atrioventricular conduction defects or sinus dysfunction, requiring the implantation of permanent pacemakers in seven cases. Myocardial dysfunction accompanied by ventricular arrhythmias developed rapidly in the course of the disease and resulted in severe dilated cardiomyopathy requiring cardiac transplantation in three cases. In conclusion, in patients presenting a life-threatening familial or sporadic cardiac restricted phenotype similar to that described here, mutations in the lamins A and C gene should be looked for. In the genotypically affected individuals, cardiological and electrophysiological follow-up should be performed to prevent sudden death that could occur rapidly in the evolution of such disease.


Assuntos
Cardiomiopatias/genética , Morte Súbita Cardíaca/epidemiologia , Sistema de Condução Cardíaco/fisiopatologia , Proteínas Nucleares/genética , Adolescente , Adulto , Idoso , Arritmias Cardíacas/epidemiologia , Arritmias Cardíacas/genética , Arritmias Cardíacas/fisiopatologia , Cardiomiopatias/epidemiologia , Comorbidade , Análise Mutacional de DNA , Eletrocardiografia , Feminino , Seguimentos , França/epidemiologia , Genes Dominantes , Humanos , Incidência , Laminas , Masculino , Pessoa de Meia-Idade , Mutação , Linhagem , Fenótipo , Estudos Retrospectivos
5.
Nat Genet ; 21(3): 285-8, 1999 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-10080180

RESUMO

Emery-Dreifuss muscular dystrophy (EDMD) is characterized by early contractures of elbows and Achilles tendons, slowly progressive muscle wasting and weakness, and a cardiomyopathy with conduction blocks which is life-threatening. Two modes of inheritance exist, X-linked (OMIM 310300) and autosomal dominant (EDMD-AD; OMIM 181350). EDMD-AD is clinically identical to the X-linked forms of the disease. Mutations in EMD, the gene encoding emerin, are responsible for the X-linked form. We have mapped the locus for EDMD-AD to an 8-cM interval on chromosome 1q11-q23 in a large French pedigree, and found that the EMD phenotype in four other small families was potentially linked to this locus. This region contains the lamin A/C gene (LMNA), a candidate gene encoding two proteins of the nuclear lamina, lamins A and C, produced by alternative splicing. We identified four mutations in LMNA that co-segregate with the disease phenotype in the five families: one nonsense mutation and three missense mutations. These results are the first identification of mutations in a component of the nuclear lamina as a cause of inherited muscle disorder. Together with mutations in EMD (refs 5,6), they underscore the potential importance of the nuclear envelope components in the pathogenesis of neuromuscular disorders.


Assuntos
Distrofias Musculares/genética , Mutação , Proteínas Nucleares/genética , Sequência de Aminoácidos , Clonagem Molecular , Desoxirribonuclease HpaII/genética , Desoxirribonucleases de Sítio Específico do Tipo II/genética , Éxons , Feminino , Genes Dominantes , Haplótipos , Humanos , Imuno-Histoquímica , Lamina Tipo A , Laminas , Masculino , Repetições de Microssatélites , Dados de Sequência Molecular , Distrofia Muscular de Emery-Dreifuss , Miocárdio/metabolismo , Miocárdio/patologia , Proteínas Nucleares/análise , Proteínas Nucleares/metabolismo , Linhagem , Análise de Sequência de DNA , Homologia de Sequência de Aminoácidos
6.
Eur J Ophthalmol ; 9(4): 269-75, 1999.
Artigo em Inglês | MEDLINE | ID: mdl-10651190

RESUMO

PURPOSE: The main purpose of this prospective study was to compare the efficacy, local tolerance, and safety of topical lomefloxacin 0.3% and topical ofloxacin 0.3% in the treatment of acute bacterial conjunctivitis. PATIENTS AND METHODS: Forty patients with acute bacterial conjunctivitis were included in a randomized, prospective, parallel-group study. Twenty patients were assigned to the lomefloxacin group (Okacin, CIBA Vision Ophthalmics) and 20 patients to ofloxacin (Oflox, Allergan). Lomefloxacin 0.3% was given 1 drop every 2 hours during waking hours on the first day then twice daily for one week. Ofloxacin 0.3% eyedrops were given four times daily. All patients underwent eye examination and clinical findings were graded and recorded according to severity of lid hyperemia, lid edema, lid crusting, conjunctival edema and discharge, bulbar conjunctival hyperemia, palpebral conjunctival hyperemia, corneal edema, and ocular discomfort. The score for each clinical sign was recorded before and after treatment. The mean cumulative sum score (CSS) was obtained by adding the scores for signs and symptoms. All conjunctival swabs were cultured and tested for sensitivity. Patients with confirmed bacterial conjunctivitis were included. RESULTS: There were 10 male and 10 female patients in each group. The age range was from 1 to 78 years, and the mean age was 35 years in the lomefloxacin group. In the ofloxacin group the age range was from 1 to 70 years, and the mean age was 26 years. There was no significant difference between the two groups in relation to age or sex. The causative organisms were Staphylococcus epidermidis in 16 cases (36%), alpha-hemolytic Streptococci in 9 (20%), Haemophilus spp. 6 (13%), Staphylococcus aureus 5 (11%), Streptococcus pneumoniae 4 (9%), Pseudomonas aeruginosa 3 (7%), and other 2 (4%). The mean CSS for conjunctivitis was 12.1 before therapy in the lomefloxacin group and 12.7 in the ofloxacin group. On the 7th day of therapy, the mean CSS was 0.7 in the lomefloxacin group, and 1.6 for ofloxacin. All patients showed improvement, but a total of 18 out of 20 (88%) in the lomefloxacin group showed complete resolution compared to 15 (75%) in the ofloxacin group. The difference was not statistically significant (p = 0.08). Tolerance was excellent in both groups, and no side effects were reported. A burning sensation was noted by two patients, one in each group. CONCLUSIONS: Lomefloxacin and ofloxacin were equally effective and safe in the treatment of acute bacterial conjunctivitis.


Assuntos
Anti-Infecciosos/uso terapêutico , Conjuntivite Bacteriana/tratamento farmacológico , Fluoroquinolonas , Ofloxacino/uso terapêutico , Quinolonas/uso terapêutico , Administração Tópica , Adolescente , Adulto , Fatores Etários , Idoso , Anti-Infecciosos/efeitos adversos , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Ofloxacino/efeitos adversos , Quinolonas/efeitos adversos , Fatores Sexuais
7.
Eur J Ophthalmol ; 9(4): 269-275, 1999.
Artigo em Inglês | MEDLINE | ID: mdl-28252678

RESUMO

PURPOSE: The main purpose of this prospective study was to compare the efficacy, local tolerance, and safety of topical lomefloxacin 0.3% and topical ofloxacin 0.3% in the treatment of acute bacterial conjunctivitis. PATIENS AND METHODS. Forty patients with acute bacterial conjunctivitis were included in a randomized, prospective, parallel-group study. Twenty patients were assigned to the lomefloxacin group (Okacin, CIBA Vision Ophthalmics) and 20 patients to ofloxacin (Oflox, Allergan). Lomefloxacin 0.3% was given 1 drop every 2 hours during waking hours on the first day then twice daily for one week. Ofloxacin 0.3% eyedrops were given four times daily. All patients underwent eye examination and clinical findings were graded and recorded according to severity of lid hyperemia, lid edema, lid crusting, conjunctival edema and discharge, bulbar conjunctival hyperemia, palpebral conjunctival hyperemia, corneal edema, and ocular discomfort. The score for each clinical sign was recorded before and after treatment. The mean cumulative sum score (CSS) was obtained by adding the scores for signs and symptoms. All conjunctival swabs were cultured and tested for sensitivity. Patients with confirmed bacterial conjunctivitis were included. RESULT: There were 10 male and 10 female patients in each group. The age range was from 1 to 78 years, and the mean age was 35 years in the lomefloxacin group. In the ofloxacin group the age range was from 1 to 70 years, and the mean age was 26 years. There was no significant difference between the two groups in relation to age or sex. The causative organisms were Staphylococcus epidermidis in 16 cases (36%), a-hemolytic Streptococci in 9 (20%), Haemophilus spp. 6 (13%), Staphylococcus aureus 5 (11%), Streptococcus pneumoniae 4 (9%), Pseudomonas aeruginosa 3 (7%), and other 2 (4%). The mean CSS for conjunctivitis was 12.1 before therapy in the lomefloxacin group and 12.7 in the ofloxacin group. On the 7th day of therapy, the mean CSS was 0.7 in the lomefloxacin group, and 1.6 for ofloxacin. All patients showed improvement, but a total of 18 out of 20 (88%) in the lomefloxacin group showed complete resolution compared to 15 (75%) in the ofloxacin group. The difference was not statistically significant (p = 0.08). Tolerance was excellent in both groups, and no side effects were reported. A burning sensation was noted by two patients, one in each group. CONCLUSIONS: Lomefloxacin and ofloxacin were equally effective and safe in the treatment of acute bacterial conjunctivitis. (Eur J Ophthalmol 1999; 9: 269-75).

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