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1.
Int J Mol Sci ; 22(7)2021 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-33916195

RESUMO

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an ultra-rare disease for which there are currently no validated outcome measures for assessing therapeutic intervention efficacy. The aim of this study was to identify a plasma and/or serum microRNA (miRNA) biomarker panel for MNGIE. Sixty-five patients and 65 age and sex matched healthy controls were recruited and assigned to one of four study phases: (i) discovery for sample size determination; (ii) candidate screening; (iii) candidate validation; and (iv) verifying the performance of the validated miRNA panel in four patients treated with erythrocyte-encapsulated thymidine phosphorylase (EE-TP), an enzyme replacement under development for MNGIE. Quantitative PCR (qPCR) was used to profile miRNAs in serum and/or plasma samples collected for the discovery, validation and performance phases, and next generation sequencing (NGS) analysis was applied to serum samples assigned to the candidate screening phase. Forty-one differentially expressed candidate miRNAs were identified in the sera of patients (p < 0.05, log2 fold change > 1). The validation cohort revealed that of those, 27 miRNAs were upregulated in plasma and three miRNAs were upregulated in sera (p < 0.05). Through binary logistic regression analyses, five plasma miRNAs (miR-192-5p, miR-193a-5p, miR-194-5p, miR-215-5p and miR-34a-5p) and three serum miRNAs (miR-192-5p, miR-194-5p and miR-34a-5p) were shown to robustly distinguish MNGIE from healthy controls. Reduced longitudinal miRNA expression of miR-34a-5p was observed in all four patients treated with EE-TP and coincided with biochemical and clinical improvements. We recommend the inclusion of the plasma exploratory miRNA biomarker panel in future clinical trials of investigational therapies for MNGIE; it may have prognostic value for assessing clinical status.


Assuntos
Pseudo-Obstrução Intestinal/sangue , MicroRNAs/sangue , Distrofia Muscular Oculofaríngea/sangue , Oftalmoplegia/congênito , Biomarcadores/sangue , Estudos de Casos e Controles , Perfilação da Expressão Gênica , Humanos , Oftalmoplegia/sangue
2.
BMJ Case Rep ; 13(9)2020 Sep 18.
Artigo em Inglês | MEDLINE | ID: mdl-32948528

RESUMO

Bickerstaff's brainstem encephalitis (BBE) is a Guillain-Barré syndrome (GBS) spectrum disorder associated with predominantly central nervous system predilection. Patients exhibit a variable constellation of depressed consciousness, bilateral external ophthalmoplegia, ataxia and long tract signs. Although the pathophysiology is not fully understood, it has been associated with anti-GQ1b antibodies in two-thirds of patients. We present a patient with clinical features consistent with BBE and positive anti-GM1 and anti-GD1a antibodies. A diagnostic approach to the acutely unwell patient with brainstem encephalitis is explored in this clinical context with a literature review of the aforementioned ganglioside antibody significance. Intravenous immunoglobulin therapy is highlighted in BBE using up-to-date evidence-based extrapolation from GBS.


Assuntos
Ataxia/imunologia , Autoanticorpos/sangue , Tronco Encefálico/imunologia , Encefalite/diagnóstico , Oftalmoplegia/imunologia , Adulto , Ataxia/sangue , Autoanticorpos/imunologia , Diagnóstico Diferencial , Eletroencefalografia , Encefalite/sangue , Encefalite/complicações , Encefalite/imunologia , Gangliosídeo G(M1)/imunologia , Gangliosídeos/imunologia , Escala de Coma de Glasgow , Humanos , Masculino , Oftalmoplegia/sangue
3.
CNS Neurosci Ther ; 25(6): 697-703, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-30756475

RESUMO

AIM: To examine whether the velocity of saccadic eye movements in internuclear ophthalmoparesis (INO) improves with fampridine treatment in patients with multiple sclerosis (MS). METHODS: Randomized, double-blind, placebo-controlled, cross-over trial with fampridine in patients with MS and INO. Horizontal saccades were recorded at baseline and at multiple time points post-dose. Main outcome measures were the change of peak velocity versional dysconjugacy index (PV-VDI) and first-pass amplitude VDI (FPA-VDI). Both parameters were compared between fampridine and placebo using a mixed model analysis of variance taking patients as their own control. Pharmacokinetics was determined by serial blood sampling. RESULTS: Thirteen patients had a bilateral and 10 had a unilateral INO. One patient had an INO of abduction (posterior INO of Lutz) and was excluded. Fampridine significantly reduced both PV-VDI (-17.4%, 95% CI: -22.4%, -12.1%; P < 0.0001) and FPA-VDI (-12.5%, 95% CI: -18.9%, -5.5%; P < 0.01). Pharmacokinetics demonstrated that testing coincided with the average tmax at 2.08 hours (SD 45 minutes). The main adverse event reported after administration of fampridine was dizziness (61%). CONCLUSION: Fampridine improves saccadic eye movements due to INO in MS. Treatment response to fampridine may gauge patient selection for inclusion to remyelination strategies in MS using saccadic eye movements as primary outcome measure.


Assuntos
4-Aminopiridina/uso terapêutico , Esclerose Múltipla/complicações , Oftalmoplegia/tratamento farmacológico , Bloqueadores dos Canais de Potássio/uso terapêutico , 4-Aminopiridina/sangue , 4-Aminopiridina/farmacocinética , Adulto , Idoso , Estudos Cross-Over , Método Duplo-Cego , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Esclerose Múltipla/sangue , Esclerose Múltipla/tratamento farmacológico , Oftalmoplegia/sangue , Oftalmoplegia/etiologia , Bloqueadores dos Canais de Potássio/sangue , Bloqueadores dos Canais de Potássio/farmacocinética , Movimentos Sacádicos/efeitos dos fármacos , Resultado do Tratamento
4.
J Neuroimmunol ; 330: 170-173, 2019 05 15.
Artigo em Inglês | MEDLINE | ID: mdl-30642576

RESUMO

Anti-GQ1b antibody syndrome encompasses Miller Fisher syndrome and its related disorders. We retrospectively identified 11 pediatric patients (5.4-18 years old) with anti-GQ1b antibody syndrome. Diagnoses of patients included acute ophthalmoparesis (n = 6), classical Miller Fisher syndrome (n = 2), Miller Fisher syndrome/Guillain-Barré syndrome (n = 1), acute ataxic neuropathy (n = 1), and pharyngeal-cervical-brachial weakness (n = 1). Nine patients (81.8%) fully recovered. Maturational change in GQ1b antigen expression and the accessibility of anti-GQ1b antibodies might be the cause of the difference of clinical manifestations in children with anti-GQ1b antibody syndrome.


Assuntos
Autoanticorpos/sangue , Gangliosídeos/sangue , Síndrome de Miller Fisher/sangue , Síndrome de Miller Fisher/epidemiologia , Oftalmoplegia/sangue , Oftalmoplegia/epidemiologia , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Síndrome de Miller Fisher/diagnóstico por imagem , Oftalmoplegia/diagnóstico por imagem , República da Coreia/epidemiologia , Estudos Retrospectivos , Síndrome
5.
Neurol Sci ; 40(1): 67-73, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30232672

RESUMO

Miller Fisher syndrome (MFS) is characterized by a clinical triad of ophthalmoplegia, ataxia, and areflexia, and is closely associated with serum anti-GQ1b antibody. Although the clinical triad is the cardinal diagnostic clue, a variety of other symptoms and signs beyond the triad have been reported. To elucidate the frequency and characteristics of atypical clinical manifestations of MFS, we recruited 38 patients with MFS and evaluated the symptoms or signs beyond the classic triad. Eleven (29%) of 38 patients had atypical clinical manifestations of MFS such as headache (n = 6), delayed facial palsy (n = 3), divergence insufficiency (n = 2), and taste impairment (n = 2). Headache was localized to the periorbital (n = 3), temporal (n = 2), or whole (n = 1) area. Only one of them showed bilateral papilledema and an elevated opening pressure in cerebrospinal fluid analysis. Delayed facial palsy developed after the other signs have reached nadir (n = 1) or started to improve (n = 2), and did not follow a pattern of descending paralysis with other cranial neuropathies. Two patients showed divergence insufficiency without external ophthalmoplegia, and another two had taste impairment over the entire tongue without the other signs of facial and glossopharyngeal nerve involvements. Our study shows that approximately 30% of MFS patients can have atypical clinical manifestations beyond the classic triad. These results reflect the broad clinical spectrum of MFS, and might be associated with the presence of additional antiganglioside antibodies besides anti-GQ1b in patients with MFS.


Assuntos
Paralisia Facial/diagnóstico , Gangliosídeos , Síndrome de Miller Fisher/diagnóstico , Oftalmoplegia/diagnóstico , Adolescente , Adulto , Idoso , Autoanticorpos/sangue , Diagnóstico Diferencial , Paralisia Facial/sangue , Paralisia Facial/epidemiologia , Feminino , Gangliosídeos/sangue , Humanos , Masculino , Pessoa de Meia-Idade , Síndrome de Miller Fisher/sangue , Síndrome de Miller Fisher/epidemiologia , Oftalmoplegia/sangue , Oftalmoplegia/epidemiologia , Adulto Jovem
6.
J Neurol ; 266(2): 476-479, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30556099

RESUMO

To define the prevalence and characteristics of single ocular motor nerve palsy (OMNP) associated with positive serum anti-GQ1b antibody. We performed a prospective multicenter study that recruited 82 patients with single OMNP without identifiable causes from the history and neuroimaging in six neurology clinics of university hospitals. We measured serum anti-GQ1b antibody in all participants. Twelve patients with multiple OMNP and 30 with identifiable causes served as the controls. Overall, the prevalence of anti-GQ1b antibody syndrome was 10% (8/82) in patients with single OMNP and 6% (5/78) in those with single OMNP in isolation. None of the 14 patients with OMNP with identifiable causes showed positive serum anti-GQ1b antibody. The prevalence of anti-GQ1b antibody syndrome was much higher in patients with multiple OMNP than in those with single OMNP (50% vs. 10%, p < 0.01). Patients with single OMNP and positive anti-GQ1b antibody are younger (42 ± 16 vs. 58 ± 15, p < 0.05) and had a significantly higher frequency of preceding infection (75 vs. 19%, p < 0.05) and other neurological signs (38 vs. 1%, p < 0.05) than those with negative antibody. Eight patients with single OMNP and positive serum anti-GQ1b antibody involved the abducens (n = 6), trochlear (n = 1), or oculomotor nerve (n = 1). Single OMNP accompanying other neurological signs and multiple OMNP are more likely to be associated with anti-GQ1b antibody. Anti-GQ1b antibody syndrome should be considered even in patients with single OMNP, especially when antecedent infection was associated in younger patients.


Assuntos
Autoanticorpos/sangue , Gangliosídeos/imunologia , Oftalmoplegia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Oftalmoplegia/sangue , Oftalmoplegia/epidemiologia , Oftalmoplegia/fisiopatologia , Prevalência , Adulto Jovem
7.
Headache ; 58(5): 746-749, 2018 May.
Artigo em Inglês | MEDLINE | ID: mdl-29878345

RESUMO

OBJECTIVE: To expand the differential diagnosis of headache and ophthalmoparesis by describing a case report in which anti-GQ1b was demonstrated to be the cause. BACKGROUND: Anti-GQ1b antibody syndrome refers to a clinical spectrum of conditions that share common mechanisms and overlapping manifestations, including the Miller-Fisher syndrome, pharyngeal-cervical-brachial weakness, and Bickerstaff brainstem encephalitis. Rare atypical cases presenting as acute ophthalmoparesis (AO) without ataxia or areflexia have been described. Headache is a rare condition in these disorders. METHODS: A 49-year-old woman with no history of headaches began experiencing an acute severe bilateral throbbing headache associated with nausea and photophobia. Five days later, she developed constant binocular horizontal diplopia. RESULTS: Bilateral paresis of both sixth nerves was noted. Her ocular fundi, tendon reflexes, and other findings of the physical exam were normal. In addition, both a brain MRI performed with gadolinium and a lumbar puncture yielded normal results. Serum anti-GQ1b IgG was found to be positive. Her symptoms resolved completely following treatment with immunoglobulins (0.4 g/kg/day for 5 days). CONCLUSIONS: This is the first reported case of AO related to anti-GQ1b antibodies presenting with headache as its initial symptom. The presence of anti-GQ1b antibodies should be determined in patients with headache and AO of unknown origin. Immunoglobulins could hasten the resolution of symptoms in these patients.


Assuntos
Autoanticorpos/sangue , Gangliosídeos/imunologia , Cefaleia/diagnóstico , Síndrome de Miller Fisher/diagnóstico , Oftalmoplegia/diagnóstico , Feminino , Cefaleia/sangue , Cefaleia/tratamento farmacológico , Humanos , Imunoglobulinas/farmacologia , Pessoa de Meia-Idade , Síndrome de Miller Fisher/sangue , Síndrome de Miller Fisher/tratamento farmacológico , Oftalmoplegia/sangue , Oftalmoplegia/tratamento farmacológico
8.
J Peripher Nerv Syst ; 22(4): 446-450, 2017 12.
Artigo em Inglês | MEDLINE | ID: mdl-29065229

RESUMO

Patients with Miller Fisher syndrome (MFS) may have a relatively mild clinical course or progress to Guillain-Barré syndrome (GBS) with limb weakness (MFS-GBS overlap syndrome). Other variants in this spectrum are GBS with ophthalmoparesis and Bickerstaff's Brainstem encephalitis (BBE). To compare the clinical course of MFS and overlap syndromes and to identify predictors of disease progression. In a prospective study of 170 patients with GBS and variant forms, 37 (22%) had a MFS, MFS-GBS overlap syndrome, ophthalmoplegic GBS or BBE. The clinical, serological, and electrophysiological features were compared. Twenty-three patients presented with MFS, of which 10 (43%) developed limb weakness (MFS-GBS overlap syndrome). All these transitions occurred in the first week after onset of symptoms. There were no differences in the clinical, electrophysiological and serological features at entry between MFS and MFS-GBS. Twelve patients had ophthalmoplegic GBS and the disease severity at nadir and outcome was worse than in the patients with a MFS-GBS overlap syndrome. No early predictors for progression from MFS to MFS-GBS overlap syndrome were found. All transitions occurred in the first week. This finding implicates that all patients with MFS need careful monitoring for at least 1 week.


Assuntos
Progressão da Doença , Gangliosídeos/imunologia , Síndrome de Guillain-Barré/fisiopatologia , Síndrome de Miller Fisher/fisiopatologia , Oftalmoplegia/fisiopatologia , Adulto , Autoanticorpos/sangue , Transtornos da Consciência/fisiopatologia , Feminino , Seguimentos , Síndrome de Guillain-Barré/sangue , Síndrome de Guillain-Barré/líquido cefalorraquidiano , Humanos , Masculino , Pessoa de Meia-Idade , Síndrome de Miller Fisher/sangue , Síndrome de Miller Fisher/líquido cefalorraquidiano , Oftalmoplegia/sangue , Oftalmoplegia/líquido cefalorraquidiano , Avaliação de Resultados em Cuidados de Saúde , Prognóstico , Fatores de Risco
9.
Muscle Nerve ; 55(4): 564-569, 2017 04.
Artigo em Inglês | MEDLINE | ID: mdl-27489983

RESUMO

INTRODUCTION: Human fibroblast growth factor 21 (FGF21) is a regulator of lipid and glucose metabolism. It is expressed in skeletal muscle and may be a sensitive and specific marker for mitochondrial diseases and other neuromuscular disorders. METHODS: Serum FGF21 levels were determined in 71 human samples. Thirty patients with mitochondrial disease, 16 patients with myotonic dystrophy type 1 (DM1), 5 patients with facioscapulohumeral dystrophy, and 20 healthy controls were enrolled. Results Serum FGF21 levels were significantly elevated in patients with progressive external ophthalmoplegia and DM1 compared with patients with facioscapulohumeral dystrophy, other types of mitochondrial diseases, and controls. In the mitochondrial disorder group, serum FGF21 levels were related to the number of ragged blue fibers. Significant insulin resistance was found in DM1 that might be responsible for FGF21 elevation. Conclusions FGF21 elevation may be associated with certain types of mitochondrial disease, and it is influenced by insulin resistance. Muscle Nerve 55: 564-569, 2017.


Assuntos
Creatina Quinase/sangue , Fatores de Crescimento de Fibroblastos/sangue , Doenças Mitocondriais/sangue , Doenças Mitocondriais/etiologia , Distrofia Miotônica/sangue , Distrofia Miotônica/complicações , Adulto , Idoso , DNA Mitocondrial/genética , Progressão da Doença , Ensaio de Imunoadsorção Enzimática , Feminino , Fatores de Crescimento de Fibroblastos/genética , Humanos , Ácido Láctico/sangue , Masculino , Pessoa de Meia-Idade , Músculo Esquelético/patologia , Distrofia Muscular Facioescapuloumeral/sangue , Distrofia Muscular Facioescapuloumeral/complicações , Distrofia Miotônica/genética , Oftalmoplegia/sangue , Oftalmoplegia/fisiopatologia , Estatística como Assunto , Tireotropina/sangue
12.
Eur J Neurol ; 23(2): 320-6, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-26176883

RESUMO

BACKGROUND AND PURPOSE: Anti-GQ1b antibodies have been found in patients with Miller Fisher syndrome as well as its related conditions. Our aim was to identify the mechanism by which autoantibodies produce various clinical presentations in 'anti-GQ1b antibody syndrome'. METHODS: Immunoglobulin G antibodies to ganglioside complex (GSC) of GQ1b or GT1a with GM1, GD1a, GD1b or GT1b were tested in sera from patients with anti-GQ1b (n = 708) or anti-GT1a (n = 696) IgG antibodies. Optical densities of the single anti-GQ1b or anti-GT1a antibodies were used as reference (100%), and those of anti-GSC antibodies were expressed in percentages to reference. The relationships between anti-GSC antibody reactivity and the corresponding clinical features were assessed by multivariate logistic regression analysis. RESULTS: Ophthalmoplegia and hypersomnolence were significantly associated with complex-attenuated anti-GQ1b and anti-GT1a antibodies. Ataxia was associated with GD1b- and GT1b-enhanced anti-GQ1b antibodies or GM1-enhanced anti-GT1a antibodies. Bulbar palsy was associated with GT1b-enhanced anti-GQ1b antibodies. Neck weakness was associated with GD1a-enhanced anti-GQ1b antibodies. Arm weakness was associated with GD1b-enhanced anti-GQ1b and GD1a-enhanced anti-GT1a antibodies. Leg weakness was associated with GD1a-enhanced anti-GQ1b and anti-GT1a antibodies. CONCLUSIONS: Differences in fine specificity of anti-GQ1b antibodies are associated with clinical features, possibly due to the different expression of gangliosides in different parts of the nervous system.


Assuntos
Ataxia/sangue , Autoanticorpos/sangue , Paralisia Bulbar Progressiva/sangue , Distúrbios do Sono por Sonolência Excessiva/sangue , Gangliosídeos/imunologia , Síndrome de Guillain-Barré/sangue , Debilidade Muscular/sangue , Oftalmoplegia/sangue , Ataxia/etiologia , Paralisia Bulbar Progressiva/etiologia , Distúrbios do Sono por Sonolência Excessiva/etiologia , Síndrome de Guillain-Barré/complicações , Humanos , Imunoglobulina G/imunologia , Síndrome de Miller Fisher/sangue , Síndrome de Miller Fisher/etiologia , Debilidade Muscular/etiologia , Oftalmoplegia/etiologia
13.
J Fr Ophtalmol ; 37(2): 89-92, 2014 Feb.
Artigo em Francês | MEDLINE | ID: mdl-24513384

RESUMO

Miller-Fisher syndrome is defined as ophthalmoplegia, ataxia and areflexia. Considered as a variant of Guillain-Barré syndrome, it differs in its clinical presentation and by anti-GQ1b antibody positivity. The authors report a case of Miller-Fisher syndrome characterized by ataxia and complete ophthalmoplegia. Through this example, the range of ophthalmologic clinical manifestations are discussed.


Assuntos
Ataxia/diagnóstico , Autoanticorpos/sangue , Gangliosídeos/imunologia , Síndrome de Miller Fisher/diagnóstico , Oftalmoplegia/diagnóstico , Idoso , Ataxia/sangue , Ataxia/complicações , Diagnóstico Diferencial , Feminino , Humanos , Síndrome de Miller Fisher/complicações , Oftalmoplegia/sangue , Oftalmoplegia/complicações , Testes Sorológicos
14.
J Neurol Neurosurg Psychiatry ; 83(9): 941-8, 2012 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-22767382

RESUMO

BACKGROUND: IgG anti-GQ1b antibodies are associated with Fisher syndrome (FS), Bickerstaff brainstem encephalitis (BBE), acute ophthalmoparesis and overlap of FS or BBE with Guillain--Barré syndrome (GBS) (FS/GBS or BBE/GBS). It has not been clearly established if the primary pathology of these disorders is demyelinating or axonal in nature. Rapid resolution of conduction slowing or block without signs of demyelination--remyelination has been reported in axonal subtypes of GBS that are associated with IgG anti-GM1 or -GD1a antibodies. We hypothesised that such reversible conduction failure would be also observed in FS and related disorders. METHODS: Serial nerve conduction studies were prospectively performed in 15 patients with FS and related conditions. RESULTS: Neither conduction block nor abnormal temporal dispersion was observed in any of the nerves at any point in all the patients. Conduction velocities for none of the nerves were in the demyelinating range. The amplitude of sensory nerve action potential was decreased in three FS, one FS/GBS and two BBE/GBS patients. Compound muscle action potential amplitudes were decreased in the two BBE/GBS patients. These decreases in amplitudes of sensory nerve action potential and compound muscle action potential promptly resolved without significant change in duration on serial studies. CONCLUSIONS: Reversible conduction failure was seen in six of the 15 patients with FS and related disorders on serial nerve conduction studies. There were no signs of demyelination or remyelination in the 15 patients. The pathology appears to be primarily non-demyelinating. We believe these conditions form a continuous spectrum with axonal GBS.


Assuntos
Encefalite/fisiopatologia , Síndrome de Guillain-Barré/fisiopatologia , Síndrome de Miller Fisher/fisiopatologia , Condução Nervosa/fisiologia , Oftalmoplegia/fisiopatologia , Potenciais de Ação/fisiologia , Adulto , Autoanticorpos/sangue , Encefalite/sangue , Feminino , Gangliosídeos/imunologia , Síndrome de Guillain-Barré/sangue , Humanos , Masculino , Pessoa de Meia-Idade , Síndrome de Miller Fisher/sangue , Oftalmoplegia/sangue
16.
Ann Biol Clin (Paris) ; 69(4): 476-80, 2011.
Artigo em Francês | MEDLINE | ID: mdl-21896416

RESUMO

We reported the laboratory phenotype of a monoclonal IgM-lambda against disialylated gangliosides, in a 81-year-old man admitted to a neurological department because of the progressive development of distal paresthesias, gait unsteadiness, difficulty to walk and having falls. Serological studies revealed an IgM monoclonal protein with lambda light chain component of MGUS type. IgM level was 4 g/L. The positive laboratory studies showed high titers of IgM antibodies in excess of 1/10(5) against specific disialylated gangliosides including GD1b, GD3, GT1b and GQ1b. There was no serum IgM binding to MAG and SGPG/SGLPG. Clonality by in-house immunodot of ganglioside antibodies was demonstrated using kappa and lambda light chain specific antibodies. Light chain subtype of the anti-ganglioside antibody activity and monoclonal IgM was lambda subtype. The reactivity at high titers was against gangliosides containing the disialosyl epitope. The clinical and laboratory features have been described under the acronym CANOMAD: Chronic Ataxic Neuropathy with Ophthalmoplegia, M proteins, cold Agglutinins and Disialosyl antibodies. Administration of IVIg produced a significant neurological improvement during six years. Then the neuropathy became refractory in the IVIg and worsened in severity, a cure by Rituximab® was established. The patient died from a pneumopathy only two months later. Monoclonal IgM binding to disialylated gangliosides have high level of specificity for diagnosis of the CANOMAD syndrome.


Assuntos
Anemia Hemolítica Autoimune/diagnóstico , Anemia Hemolítica Autoimune/imunologia , Anticorpos Monoclonais/sangue , Ataxia/diagnóstico , Ataxia/imunologia , Gangliosídeos/sangue , Imunoglobulina M/sangue , Oftalmoplegia/diagnóstico , Oftalmoplegia/imunologia , Idoso de 80 Anos ou mais , Anemia Hemolítica Autoimune/sangue , Anemia Hemolítica Autoimune/complicações , Anemia Hemolítica Autoimune/tratamento farmacológico , Anticorpos Monoclonais Murinos/uso terapêutico , Ataxia/sangue , Ataxia/complicações , Ataxia/tratamento farmacológico , Evolução Fatal , Marcha Atáxica/etiologia , Gangliosídeos/metabolismo , Humanos , Imunoglobulinas Intravenosas/uso terapêutico , Fatores Imunológicos/uso terapêutico , Masculino , Ácido N-Acetilneuramínico/metabolismo , Oftalmoplegia/sangue , Oftalmoplegia/complicações , Oftalmoplegia/tratamento farmacológico , Parestesia/etiologia , Nervos Periféricos/metabolismo , Rituximab , Falha de Tratamento
20.
Clin Physiol Funct Imaging ; 24(2): 109-15, 2004 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-15056184

RESUMO

STUDY OBJECTIVES: Muscle is one of the most commonly affected organs in mitochondrial disorders, and the symptoms are often exercise related. The cardiopulmonary exercise test with the determination of lactic acid formation could give supplementary information about the exercise-induced metabolic stress and compensatory mechanisms used in these disorders. The aim of this study was to evaluate the exercise capacity and lactate kinetics related to exercise in subjects with two genetically characterized mitochondrial disorders (multiple mitochondrial DNA deletions with PEO, MELAS) compared with lactate kinetics in subjects with metabolic myopathy (McArdle's disease) and in the healthy controls. DESIGN: The subjects were consecutive, co-operative patients of Department of Neurology of Helsinki University Hospital. Molecular genetic analyses were used for group classification of the mitochondrial myopathy. STUDY SUBJECTS: The study groups consisted of 11 patients with multiple deletions (PEO) and five patients with a point mutation in the mitochondrial DNA (MELAS), four patients with a muscle phosphorylase enzyme deficiency (McArdle's disease) and 13 healthy controls. The clinical disease of the patients was relatively mild. MEASUREMENTS AND RESULTS: A graded exercise test with ventilatory gas analyses and venous blood lactic acid analyses was performed. The main finding was the prolonged accumulation of blood lactate after the exercise in the PEO and MELAS groups compared with the controls. An overcompensation in ventilation was found in the MELAS and PEO group. CONCLUSIONS: The blood lactate accumulation after exercise occurs in patients with multiple mitochondrial DNA deletions or MELAS even in patients with only mild exercise intolerance. Cardiopulmonary exercise can be used in the diagnostic process of patients with mitochondrial myopathies.


Assuntos
DNA Mitocondrial/genética , Exercício Físico , Deleção de Genes , Doença de Depósito de Glicogênio Tipo V/fisiopatologia , Ácido Láctico/sangue , Miopatias Mitocondriais/fisiopatologia , Adulto , Estudos de Casos e Controles , Feminino , Doença de Depósito de Glicogênio Tipo V/sangue , Doença de Depósito de Glicogênio Tipo V/genética , Humanos , Síndrome MELAS/sangue , Síndrome MELAS/genética , Síndrome MELAS/fisiopatologia , Masculino , Pessoa de Meia-Idade , Miopatias Mitocondriais/sangue , Miopatias Mitocondriais/genética , Oftalmoplegia/sangue , Oftalmoplegia/genética , Oftalmoplegia/fisiopatologia , Mutação Puntual
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