RESUMO
BACKGROUND: The objective of this clinical trial (CRS-02) was to assess the efficacy, safety and tolerability of two dosages of the herbal medicinal product BNO 1016 (Sinupret extract) in patients with chronic rhinosinusitis (CRS). METHODOLOGY: 929 patients suffering from CRS were enrolled in this randomised placebo-controlled trial with a treatment period of 12 weeks. The primary endpoint was the mean Major Symptom Score (MSS) in week 8 and week 12 compared to placebo. Secondary endpoints included further MSS related parameters and responder rates over time. Pharmacoeconomic endpoints were also analysed. Finally, safety and tolerability were evaluated. RESULTS: Sinupret extract was not superior over placebo regarding the primary endpoint. However, the results of the secondary endpoints showed a clear trend towards superior efficacy. Therefore, additional post-hoc sensitivity analyses were performed in patients with a baseline MSS over 9 and persistence of disease more than 1 year diagnosed by specialists in otorhinolaryngology. Those patients significantly benefited from Sinupret extract. Therapy was superior for the primary endpoint analysis. Patients were less impaired with respect to work and daily activities. A good safety and tolerability of Sinupret extract was assured in all patients. CONCLUSIONS: Sinupret extract can safely be administered in patients with CRS. Although the primary endpoint of the study was not significant, a post-hoc subgroup analysis in patients whose disease was diagnosed by a specialist revealed a pronounced treatment effect. Effects in that subgroup were even stronger with longer disease persistence and stronger severity.
Assuntos
Extratos Vegetais/uso terapêutico , Rinite/tratamento farmacológico , Sinusite/tratamento farmacológico , Adolescente , Adulto , Idoso , Doença Crônica , Método Duplo-Cego , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Rinite/virologia , Sinusite/virologia , Inquéritos e Questionários , Resultado do TratamentoRESUMO
A retrospective, cross-sectional study was performed on a series of HCV-related mixed cryoglobulinemia (HCV-MC) patients to assess autonomic neuropathy (AN) and its relation to peripheral neuropathy (PN). Thirty consecutive patients affected by HCV-MC underwent clinical, neurological and electrodiagnostic examinations. Autonomic nervous system (ANS) involvement was assessed by functional cardiovascular tests and sympathetic skin response (SSR) evaluation. Sural nerve biopsy was performed in 10 patients with PN. All patients received steroids, 15 also received recombinant interferon-alpha2b (RIfn-alpha2b). PN occurred in 27 patients (90.0%) and AN in 4 (13.3 %) all with signs of PN. SSR was the autonomic test more frequently altered. Biopsy disclosed axonal degeneration more evident in the 4 patients with AN. Three out of 4 patients with AN received steroids and rIFN-alpha2b and 1 steroids alone. In our study on HCV-MC, it was concluded that AN can occur also without dysautonomic symptoms, SSR appears to be one of the optional tests to use together with dysautonomic tests to identify AN and finally PN and AN do not seem to be positively influenced by addition of rIFN-alpha2b to steroid treatment.
Assuntos
Doenças do Sistema Nervoso Autônomo/complicações , Crioglobulinemia/complicações , Nervo Sural/fisiopatologia , Potenciais de Ação/fisiologia , Potenciais de Ação/efeitos da radiação , Adulto , Idoso , Doenças do Sistema Nervoso Autônomo/tratamento farmacológico , Estudos Transversais , Crioglobulinemia/tratamento farmacológico , Crioglobulinemia/etiologia , Crioglobulinemia/virologia , Eletromiografia , Feminino , Glucocorticoides/uso terapêutico , Hepatite C/complicações , Humanos , Masculino , Pessoa de Meia-Idade , Músculo Esquelético/fisiopatologia , Condução Nervosa/fisiologia , Prednisona/uso terapêutico , Estudos Retrospectivos , Estatísticas não Paramétricas , Nervo Sural/patologiaRESUMO
In this study, we used a multiparametric MR imaging approach to assess a patient with Hirayama disease (HD). We found that cervical cord damage extends beyond cord T2-visible lesions. We also showed an altered pattern of cortical activations during movements of clinically unaffected limbs. Whereas this study suggests a more widespread cord involvement in HD than seen on routine MR imaging, its cause remains unclear (vascular damage versus a primary lower motor neuron disease).
Assuntos
Encéfalo/fisiopatologia , Imageamento por Ressonância Magnética , Atrofia Muscular/patologia , Atrofia Muscular/fisiopatologia , Medula Espinal/patologia , Antebraço , Mãos , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
A GFPmut3b-tagged derivative of broad host-range plasmid RP4 was used to monitor the conjugative transfer of the plasmid from a Pseudomonas putida donor strain to indigenous bacteria in activated sludge. Transfer frequencies were determined to be in the range of 4 x 10(-6) to 1 x 10(-5) transconjugants per recipient. In situ hybridisation with fluorescently labeled, rRNA-targeted oligonucleotides was used to phylogenetically affiliate the bacteria that had received the plasmid.
Assuntos
Aeromonas/genética , Conjugação Genética , Plasmídeos/genética , Pseudomonas putida/genética , Esgotos/microbiologia , Aeromonas/isolamento & purificação , Marcadores Genéticos , Proteínas de Fluorescência Verde , Hibridização in Situ Fluorescente , Proteínas Luminescentes/biossíntese , Proteínas Luminescentes/genética , Sondas de Oligonucleotídeos , Proteínas Recombinantes/biossínteseRESUMO
Tetrahymena sp. was found to graze extensively on Serratia liquefaciens MG1 swim cells (1.5-3 microns long rods) resulting in the rapid elimination of the bacterial strain. However, when S. liquefaciens cells are exposed to certain surfaces they differentiate into elongated, highly motile swarm cells and these cells were found to be grazing-resistant provided their length exceeded 15 microns.
Assuntos
Serratia/fisiologia , Tetrahymena/fisiologia , Animais , Aderência Bacteriana , Serratia/citologia , Serratia/crescimento & desenvolvimentoRESUMO
A retrospective study of 84 patients with carpal tunnel syndrome (CTS), for a total of 118 hands, was performed in order to check clinical aspects of the disease including age of onset, sex, side affected, other associated pathological conditions, and to assess the existence of correlation between the clinical picture and electrophysiological parameters. All patients were subjected to careful clinical observation and electromyographic and electroneurographic examinations. Our study confirms that the female sex is by far predominant, the most interesting ages being the 5th and 6th decades of life and the right side is more affected than the left. None of the patients had a family history of CTS. The sensory pathology is far more frequent than the motor one and the percentage of hands with sensory and motor deficit increases with the duration of the disease. As far as the electrophysiological data is concerned, the most important and also the earliest alterations fundamentally concern the distal motor latency and distal sensory conduction velocity of the median nerve and the amplitude of its sensory action potential (SAP). This study leads us to point out a significant correlation in CTS between electrophysiological (distal motor latency and distal sensory conduction velocity of the median nerve, amplitude of its SAP) and clinical parameters (symptomatology and duration of the disease).
Assuntos
Síndrome do Túnel Carpal/fisiopatologia , Potenciais de Ação/fisiologia , Adolescente , Adulto , Idoso , Eletromiografia , Eletrofisiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Neurônios Motores/fisiologia , Condução Nervosa/fisiologia , Neurônios Aferentes/fisiologia , Fatores SexuaisRESUMO
In HCV-related mixed cryoglobulinemia (MC) a peripheral neuropathy (PN) may occur. To evaluate the prevalence and the characteristics of PN, 133 consecutive patients with HCV-MC (117 type II, 16 type III) were studied. Neurologic evaluation was performed according to the guidelines of Italian Group for the Study of Cryoglobulinemias, using a neurological disability score and a neurological symptom score. In 52/133 patients an electrophysiologic study (ENG) of ulnar, peroneal and sural nerves was performed. For 27/52 patients ENG data registered at different times (interval 12-96 months) were available. In 11 patients a sural nerve biopsy was obtained. An overt PN, mostly as sensory asymmetrical or symmetrical nerve impairment, was found in 107/133 patients (80.4%). ENG abnormalities-reduction or absence of sensory and sometimes of motor action potential, normal or slightly impaired nerve conduction velocity, consistent with axonal damage- were detected in 48/52 patients (92.3%). In 26 out of the 27 patients observed at different times an evolution of PN was found. Nerve biopsies showed a prevalent axonal damage, swollen endothelial cells in epi- and perineurial vessels and scarce mononuclear perivascular infiltrates. No leukocytoclastic vasculitis was observed. Immunoglobulins and complement in sub-perineurial vessel wall were detected. CONCLUSIONS: In HCV-MC a PN is frequent. It is mostly a sensory and progressively worsening axonopathy. Different mechanisms may be involved in the pathogenesis of this disorder and a direct role of HCV cannot be excluded.
RESUMO
BACKGROUND: Vidofludimus (SC12267) is a novel oral immunomodulator inhibiting dihydroorotate dehydrogenase (DHODH) and the expression of proinflammatory cytokines including interleukin-17 (IL17A and IL17F) and interferon-gamma. The objective of the study was to explore the efficacy, safety and tolerability of vidofludimus in steroid-dependent inflammatory bowel disease (IBD). METHODS: The open label uncontrolled ENTRANCE study (ClinicalTrials.gov NCT00820365) has been conducted at 13 study centers in Germany, Bulgaria and Romania. Thirty-four steroid-dependent patients with a confirmed diagnosis of Crohn's disease (CD) or ulcerative colitis (UC) were treated with a once daily 35mg oral dose of vidofludimus over 12weeks. Steroids were tapered during the first 8weeks followed by a steroid-free treatment period of 4weeks. Complete response was defined as steroid-free clinical remission at week 12; partial response was defined as being in remission at steroid dose equal or lower than the individual patient's threshold dose for relapse. RESULTS: Of the thirty-four patients enrolled in this trial 26 were evaluable for primary efficacy assessment. After completion of the 12weeks treatment phase 8 out of 14 (57.1%) patients with CD and 6 out of 12 (50.0%) patients with UC were in steroid-free remission (complete responders). Another 4 (28.6%) patients in CD and 5 (41.7%) patients in UC were partial responders. Vidofludimus was well tolerated, no drug-related serious adverse events were observed. CONCLUSIONS: This trial provides first evidence of clinical efficacy of vidofludimus in IBD. Although the safety and tolerability profile seems favorable, long-term controlled studies are needed to further investigate its potential as novel IBD therapy.
Assuntos
Compostos de Bifenilo/uso terapêutico , Colite Ulcerativa/tratamento farmacológico , Doença de Crohn/tratamento farmacológico , Ácidos Dicarboxílicos/uso terapêutico , Inibidores Enzimáticos/uso terapêutico , Fatores Imunológicos/uso terapêutico , Adulto , Idoso , Anti-Inflamatórios/uso terapêutico , Azatioprina/uso terapêutico , Compostos de Bifenilo/efeitos adversos , Sedimentação Sanguínea , Proteína C-Reativa/metabolismo , Colite Ulcerativa/sangue , Doença de Crohn/sangue , Ácidos Dicarboxílicos/efeitos adversos , Di-Hidro-Orotato Desidrogenase , Inibidores Enzimáticos/efeitos adversos , Fezes/química , Feminino , Humanos , Fatores Imunológicos/efeitos adversos , Imunossupressores/uso terapêutico , Análise de Intenção de Tratamento , Complexo Antígeno L1 Leucocitário/análise , Masculino , Metotrexato/uso terapêutico , Pessoa de Meia-Idade , Oxirredutases atuantes sobre Doadores de Grupo CH-CH/antagonistas & inibidores , Prednisolona/uso terapêutico , Indução de Remissão , Índice de Gravidade de Doença , Adulto JovemRESUMO
We report a six-year clinical and electrodiagnostic follow-up of an adolescent patient with acute thallium poisoning from attempted suicide. During the acute stage the patient showed gastrointestinal disturbances, alopecia, and clinical and electrodiagnostic signs of severe polyneuropathy. Three years after poisoning, his neurological symptomatology was making progress, and electrophysiologic signs of peripheral neuropathy were mainly confined to lower limbs. Six years after intoxication, he was still complaining of weakness and sensory disturbances at the level of distal lower extremities; his neurologic and electrodiagnostic abnormalities affected mainly the feet. In this case report we underline the importance of early diagnosis and treatment to prevent neurological damage and the role of serial electromyographic and nerve conduction studies in thallium poisoning. These investigations allowed the authors to depict the electrophysiologic course of peripheral nervous system involvement over six years following poisoning.
Assuntos
Eletrodiagnóstico/métodos , Doenças do Sistema Nervoso/diagnóstico , Doenças do Sistema Nervoso/fisiopatologia , Tálio/intoxicação , Adolescente , Humanos , Estudos Longitudinais , Masculino , Condução Nervosa/fisiologia , Tentativa de SuicídioRESUMO
Over the past few years, a wealth of biochemical and functional data has been gathered on mammalian cGMP-dependent protein kinases (cGKs). In mammals, three different kinases are encoded by two genes. Mutant and chimeric cGMP kinase proteins generated by molecular biology techniques have yielded important biochemical knowledge, such as the function of the N-terminal domains of cGKI and cGKII, the identity of the cGMP-binding sites of cGKI, the substrate specificity of the enzymes and structural details of the catalytic center. Genetic approaches have proved to be especially useful for the analysis of the biological function of cGKs. Recently, some of the in vivo targets and mechanisms leading to smooth muscle relaxation have been identified. In vivo targets are the myosin-binding subunit of myosin phosphatase (PP1M), a member of the protein phosphatase 1, the calcium-activated maxi K(+) channel and a new protein named IRAG that forms a complex with the inositol 1,4,5-trisphosphate (Ins(1,4,5)P(3)) receptor and cGKI. Phosphorylation of PP1M by cGKI(alpha) activates myosin phosphatase, whereas phosphorylation of IRAG by cGKI(beta) decreases Ins(1,4, 5)P(3)-induced calcium release. cGKII regulates in vivo intestinal fluid secretion by phosphorylation of the cystic fibrosis transmembrane conductance regulator (CFTR), bone growth and renal renin secretion by phosphorylation of unknown proteins.
Assuntos
Proteínas Quinases Dependentes de GMP Cíclico/genética , Proteínas Quinases Dependentes de GMP Cíclico/metabolismo , Óxido Nítrico/metabolismo , Animais , HumanosRESUMO
Cyclic GMP-dependent protein kinase I (cGKI) affects the inositol 1,4,5-trisphosphate (InsP(3))-dependent release of intracellular calcium by phosphorylation of IRAG (inositol 1,4,5-trisphophate receptor-associated cGMP kinase substrate). IRAG is present in a macromolecular complex with the InsP(3) receptor type I (InsP(3)RI) and cGKIbeta. The specificity of the interaction between these three proteins was investigated by using the yeast two-hybrid system and by co-precipitation of expressed proteins. The amino-terminal region containing the leucine zipper (amino acids 1-53) of cGKIbeta but not that of cGKIalpha or cGKII interacted with the sequence between amino acids 152 and 184 of IRAG in vitro and in vivo most likely through electrostatic interaction. cGKIbeta did not interact with the InsP(3)RI, but co-precipitated the InsP(3)RI in the presence of IRAG indicating that IRAG bound to the InsP(3)RI and to cGKIbeta. cGKIbeta phosphorylated up to four serines in IRAG. Mutation of these four serines to alanine showed that cGKIbeta-dependent phosphorylation of Ser(696) is necessary to decrease calcium release from InsP(3)-sensitive stores. These results show that cGMP induced reduction of cytosolic calcium concentrations requires cGKIbeta and phosphorylation of Ser(696) of IRAG.
Assuntos
Proteínas Quinases Dependentes de GMP Cíclico/química , Proteínas Quinases Dependentes de GMP Cíclico/metabolismo , Fosfoproteínas/metabolismo , Animais , Sítios de Ligação , Células COS , Cálcio/metabolismo , Canais de Cálcio/metabolismo , Receptores de Inositol 1,4,5-Trifosfato , Zíper de Leucina , Substâncias Macromoleculares , Fosfoproteínas/fisiologia , Fosforilação , Fosfosserina/metabolismo , Ligação Proteica , Receptores Citoplasmáticos e Nucleares/metabolismoRESUMO
We describe a case presenting continuous muscle fiber activity syndrome, which was slightly reduced by the blocking of nerve conduction and abolished by ischemia. Clinical, electromyographical and bioptical evidence of marked abnormalities of peripheral motoneurons were observed. Association with central motoneuron lesions was suspected due to the observation of initial pyramidal signs. Therapy with diphenylhydantoin and/or carbamazepine resulted only in discrete amelioration of the syndrome. This case, which presented similarities as well as differences to the cases described by Isaacs and to those reported by other authors after 1961, stimulates a critical discussion of the already raised problem of the clinical heterogeneity of continuous muscle fiber activity syndrome.
Assuntos
Denervação/efeitos adversos , Atrofia Muscular/complicações , Doenças Musculares/complicações , Adulto , Biópsia , Eletrofisiologia , Humanos , Masculino , Músculos/metabolismo , Músculos/patologia , Atrofia Muscular/etiologia , Doenças Musculares/tratamento farmacológico , Doenças Musculares/patologia , Doenças Musculares/fisiopatologia , Fenitoína/uso terapêutico , SíndromeRESUMO
The H-reflex response, and in particular the excitability cycle of spinal motor-neurones, were studied in a group of patients suffering from glue (n-hexane) neuropathy. Motor and sensitive nerve conduction, EMG, and clinical features were also considered. The results, showing an increased excitability of alpha-motorneurones, give evidence of spinal involvement in these patients.
Assuntos
Adesivos/intoxicação , Reflexo H/efeitos dos fármacos , Hexanos/intoxicação , Doenças Neuromusculares/induzido quimicamente , Doenças Profissionais/induzido quimicamente , Reflexo Monosináptico/efeitos dos fármacos , Adulto , Eletromiografia , Feminino , Humanos , Neurônios Motores/efeitos dos fármacos , Condução Nervosa/efeitos dos fármacos , Doenças Profissionais/fisiopatologia , Fatores de TempoRESUMO
A retrospective study, paying particular attention to the clinical and evolutive aspects of the disease, was performed on 44 subjects affected by polymyositis/dermatomyositis (PM/DM) and hospitalized at the Institute of Medical Clinics of the 1st School of Medicine of Naples University. On the basis of the different clinical pictures, the cases were classified into the following groups: primary PM (4); primary DM (19); DM/PM associated with malignancy (6); childhood DM/PM (3); PM/DM associated with connective tissue disorders (12). Diagnosis was established in terms of the following criteria: a) symmetrical and mostly proximal bilateral muscle weakness (100%); b) elevation of serum enzymes (86.3%); c) electromyographic findings of myopathy sometimes with fibrillation potentials, increased insertional irritability and pseudo-myotonic discharges (93.1%); d) muscle biopsy changes compatible with a clinical form of polymyositis (83.3% out of 30 cases); e) dermatological manifestations including particularly pink or lilac edema-erythema over the periorbital areas, wine-red maculae, Gottron's sign, "poikiloderma vasculare atrophicans", telangiectasias and skin vasculitis (86.3%). An involvement of the extraneural apparatus and organs was present in 40 patients; the most damaged was the osteoarticular apparatus, followed by esophagus, lung, heart and kidney; such pathology was rarely present in the childhood form. A follow-up of the disease has been performed in 36 cases and the therapy consisted fundamentally of high dose corticosteroids (mostly prednisone), associated, in a minority of cases, with methotrexate. A clinical improvement was observed in most cases and a remission of the disease in part of the latter. However, a worsening of the illness was noticed only in the patients suffering from PM/DM associated with malignancy, and mortality rate was 11.1% in all.
Assuntos
Dermatomiosite/patologia , Miosite/patologia , Adolescente , Adulto , Idoso , Criança , Dermatomiosite/complicações , Dermatomiosite/fisiopatologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Miosite/complicações , Miosite/fisiopatologia , Estudos RetrospectivosRESUMO
Saccadic eye movements were examined by electro-oculography in 21 patients with suspected myasthenia gravis. The presence of dissociated nystagmus and quiver eye movements was also assessed. The aim of the study was to assess the diagnostic value of saccadic abnormalities in the early stage of the disease. Pathological oculographic findings consisted of intra and post saccadic disorders and intersaccadic variability. A fatigue test was useful in detecting latent disorders in most patients. A Tensilon test was positive in 11 out of 16 patients with oculographic abnormalities. Diagnostic problems, apparently paradoxical findings and differential involvement of extraocular muscle fibers are discussed.
Assuntos
Miastenia Gravis/diagnóstico , Nistagmo Patológico/etiologia , Movimentos Sacádicos/fisiologia , Adolescente , Adulto , Idoso , Criança , Edrofônio , Eletroculografia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Miastenia Gravis/complicações , Miastenia Gravis/fisiopatologia , Nistagmo Patológico/diagnóstico , Nistagmo Patológico/fisiopatologia , Valor Preditivo dos TestesRESUMO
We report a 26-year-old Italian man with X-linked Charcot-Marie-Tooth (CMT) disease type 1 (CMT-X1) and a negative family history for neuromuscular diseases. Clinical and electrophysiological examinations of the patient's mother and siblings were normal. Molecular analysis by polymerase chain reaction--single-strand conformation polymorphism (PCR-SSCP) on genomic DNA from the patient and all members of his family revealed a C-to-T transition in codon 8 of exon 2 of the connexin-32 (Cx32) gene on the X chromosome only in the patient. This transition in the 5'-coding region, resulting in a Thr-Ile substitution, is likely to be the cause of CMT phenotype in our patient, and it represents a new de novo mutation of the Cx32 gene.
Assuntos
Doença de Charcot-Marie-Tooth/genética , Conexinas/genética , Ligação Genética , Mutação/genética , Cromossomo X , Adulto , Sequência de Bases/genética , Doença de Charcot-Marie-Tooth/patologia , Humanos , Masculino , Nervo Sural/patologia , Proteína beta-1 de Junções ComunicantesRESUMO
A consecutive sample of 76 chronic alcoholic patients was studied clinically, biochemically and electrophysiologically to assess clinical and/or subclinical signs of alcohol-related neuropathy as well as the most important and disputed risk factors for neuropathy such as age, parental history of alcoholism, nutritional status, alcoholic disease duration and total lifetime dose of ethanol (TLDE). The results show that alcohol-related neuropathy, especially when subclinical, seems to be frequent and mostly characterized by axonal degeneration of peripheral nerve fibres with earlier and more frequent involvement of sensory fibres and lower limbs. Moreover, positive family history of alcoholism, but above all alcoholic disease duration and TLDE, could be more important factors than malnutrition in determining neuropathy.
Assuntos
Alcoolismo/complicações , Doenças do Sistema Nervoso Periférico/induzido quimicamente , Doenças do Sistema Nervoso Periférico/patologia , Adolescente , Idoso , Alcoolismo/patologia , Alcoolismo/fisiopatologia , Estudos Transversais , Eletrofisiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Condução Nervosa/fisiologia , Estado Nutricional , Doenças do Sistema Nervoso Periférico/fisiopatologia , Estudos Retrospectivos , Fatores de Risco , Nervo Sural/patologia , Nervo Sural/fisiopatologiaRESUMO
By using mini-Tn5 transposon mutagenesis, random transcriptional fusions of promoterless bacterial luciferase, luxAB, to genes of Pseudomonas putida KT2442 were generated. Insertion mutants that responded to ammonium deficiency by induction of bioluminescence were selected. The mutant that responded most strongly was genetically analyzed and is demonstrated to bear the transposon within the assimilatory nitrate reductase gene (nasB) of P. putida KT2442. Genetic evidence as well as sequence analyses of the DNA regions flanking nasB suggest that the genes required for nitrate assimilation are not clustered. We isolated three second-site mutants in which induction of nasB expression was completely abolished under nitrogen-limiting conditions. Nucleotide sequence analysis of the chromosomal junctions revealed that in all three mutants the secondary transposon had inserted at different sites in the gltB gene of P. putida KT2442 encoding the major subunit of the glutamate synthase. A detailed physiological characterization of the gltB mutants revealed that they are unable to utilize a number of potential nitrogen sources, are defective in the ability to express nitrogen starvation proteins, display an aberrant cell morphology under nitrogen-limiting conditions, and are impaired in the capacity to survive prolonged nitrogen starvation periods.
Assuntos
Regulação Bacteriana da Expressão Gênica , Glutamato Sintase/genética , Nitrato Redutases/genética , Nitrato Redutases/metabolismo , Pseudomonas putida/enzimologia , Sequência de Aminoácidos , Elementos de DNA Transponíveis , Eletroforese em Gel Bidimensional , Ativação Enzimática , Glutamato Sintase/metabolismo , Luciferases/genética , Luciferases/metabolismo , Dados de Sequência Molecular , Mutagênese Insercional , Nitrato Redutase , Nitrato Redutases/química , Nitratos/metabolismo , Nitrogênio/metabolismo , Óperon , Pseudomonas putida/genética , Pseudomonas putida/crescimento & desenvolvimentoRESUMO
In some alcohol-related pathologies of chronic alcoholism women are more vulnerable than men. A consecutive sample of 62 chronic alcoholics was studied, 18 females and 44 males, aged between 28 and 69 years to assess the incidence and distribution of peripheral neuropathy with regard to gender. All patients underwent clinical and neurological observations, laboratory tests, and electroneurography. Total lifetime dose of ethanol (TLDE) and other risk factors for neuropathy (disease duration, age, nutritional status) were calculated and correlated to sural nerve sensory-evoked potential (SEP) amplitude. In 42 patients (67.7%), we observed the presence of clinical and/or infraclinical neuropathy, mostly axonal, in 29 males (65.9%) and 13 females (72.2%). In women, compared to men, TLDE and disease duration were significantly inversely correlated to sural nerve SEP amplitude, i.e. in women, SEP amplitude is significantly reduced in relation to TLDE and disease duration increase. These data indicate a higher sensitivity of females towards the toxic effects of ethanol, other than malnutrition, on peripheral nerve fibres.
Assuntos
Alcoolismo/complicações , Potenciais Somatossensoriais Evocados/fisiologia , Doenças do Sistema Nervoso Periférico/epidemiologia , Doenças do Sistema Nervoso Periférico/etiologia , Nervo Sural/fisiopatologia , Adulto , Idoso , Doença Crônica , Feminino , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Estado Nutricional , Fatores de Risco , Sensibilidade e Especificidade , Distribuição por SexoRESUMO
The authors report an Italian family with autosomal-dominant Charcot-Marie-Tooth disease (CMT) in which there were giant axons in the sural nerve biopsy. Linkage to the known CMT2 loci (CMT2A, CMT2B, CMT2D, CMT2F) and mutations in the known CMT2 genes (Cx32, MPZ, NEFL), GAN, NEFM, and CMT1A duplication/HNPP deletion were excluded. This family with CMT and giant axons has a pathologic and genetic entity distinct from classic CMT.