CGG/CCG Repeat Expansions in in Thai Patients With Oculopharyngodistal Myopathy.

Objectives: This study characterizes oculopharyngodistal myopathy in 4 Thai patients from 3 families with CGG/CCG repeat expansion in .

Methods: Repeat-primed PCR analyzed CGG/CCG repeat size in in 4 Thai patients suspected of oculopharyngodistal myopathy (OPDM). Clinical records were reviewed for clinicopathologic features.

Treatment of slow-channel congenital myasthenic syndrome in a Thai family with fluoxetine.

The slow-channel congenital myasthenic syndrome is an autosomal dominant neuromuscular disorder caused by mutations in different subunits of the acetylcholine receptor. Fluoxetine, a common antidepressant and long-lived open-channel blocker of acetylcholine receptor, has been reported to be beneficial in the slow-channel congenital myasthenic syndrome. Here we report a prospective open label study of fluoxetine treatment in some affected members of a Thai family with slow-channel congenital myasthenic syndrome caused by a novel p.

Minimal manifestation status and prednisone withdrawal in the MGTX trial.

Objective: To examine whether sustained minimal manifestation status (MMS) with complete withdrawal of prednisone is better achieved in thymectomized patients with myasthenia gravis (MG).

Methods: This study is a post hoc analysis of data from a randomized trial of thymectomy in MG (Thymectomy Trial in Non-Thymomatous Myasthenia Gravis Patients Receiving Prednisone Therapy [MGTX]). MGTX was a multicenter, randomized, rater-blinded 3-year trial that was followed by a voluntary 2-year extension for patients with acetylcholine receptor (AChR) antibody-positive MG without thymoma.

Long-term effect of thymectomy plus prednisone versus prednisone alone in patients with non-thymomatous myasthenia gravis: 2-year extension of the MGTX randomised trial.

Background: The Thymectomy Trial in Non-Thymomatous Myasthenia Gravis Patients Receiving Prednisone (MGTX) showed that thymectomy combined with prednisone was superior to prednisone alone in improving clinical status as measured by the Quantitative Myasthenia Gravis (QMG) score in patients with generalised non-thymomatous myasthenia gravis at 3 years. We investigated the long-term effects of thymectomy up to 5 years on clinical status, medication requirements, and adverse events.

Methods: We did a rater-blinded 2-year extension study at 36 centres in 15 countries for all patients who completed the randomised controlled MGTX and were willing to participate.

Randomized Trial of Thymectomy in Myasthenia Gravis.

Background: Thymectomy has been a mainstay in the treatment of myasthenia gravis, but there is no conclusive evidence of its benefit. We conducted a multicenter, randomized trial comparing thymectomy plus prednisone with prednisone alone.

Methods: We compared extended transsternal thymectomy plus alternate-day prednisone with alternate-day prednisone alone.

Long-term effectiveness of acetazolamide on permanent weakness in hyperkalemic periodic paralysis.

Acetazolamide is commonly used as an empirical treatment for inherited periodic paralyses although some patients may develop deleterious effects. We report a 65 year-old man with hyperkalemic periodic paralysis and late-onset permanent weakness in association with the common T704M mutation in α-subunit, skeletal muscle voltage-gated sodium channel gene. He rapidly recovered from weakness after acetazolamide treatment.

Prevalence, clinical features and treatment outcomes of patients with myasthenia gravis positive for antibodies to muscle-specific kinase in Thailand.

A small but variable subgroup of patients with myasthenia gravis (MG) who have antibodies to muscle-specific kinase (MuSKAb-MG) can present with distinct phenotypes and are often treatment-resistant. The prevalence, clinical phenotypes and outcomes of treatment of patients with MuSKAb-MG in Thailand were determined. Eight (16.

Electrophysiological and immunological study in myasthenia gravis: diagnostic sensitivity and correlation.

Objective: To determine the diagnostic sensitivity of repetitive nerve stimulation (RNS), single fiber electromyography (SFEMG) and acetylcholine receptor antibody (AChRAb) in myasthenia gravis (MG), and to compare the degree of SFEMG abnormality between ocular and generalized MG and between seronegative and seropositive patients.

Methods: The sensitivities of RNS, SFEMG and AChRAb were estimated. SFEMG abnormality was compared between ocular and generalized MG and between seronegative and seropositive patients.

Cerebral aspergillosis and cerebral candidiasis; a retrospective analysis of clinicopathologic features in Ramathibodi Hospital.

Objective: Determine and compare the clinicopathological findings of cerebral aspergillosis with cerebral candidiasis.

Material And Method: The medical records with cerebral aspergillosis and cerebral candidiasis in Ramathibodi Hospital between January 1997 and December 2008 were analyzed. The criterion for the diagnosis of cerebral aspergillosis and cerebral candidiasis was the evidence of fungal elements from histopathologic section.

Glioblastoma multiforme at the corpus callosum with spinal leptomeningeal metastasis.

Glioblastoma multiforme (GBM) often occurs in the supratentorial white matter including corpus callosum. However, spinal leptomeningeal metastasis in cases of supratentorial GBM has been reported to be rare and there is usually a long interval between the cerebral lesion and the spinal seeding. We report here a case of GBM at the corpus callosum and other parts of the brain with simultaneous manifestation of spinal leptomeningeal seeding.

Survival analysis for respiratory failure in patients with food-borne botulism.

Introduction: Botulism is a rare presynaptic neuromuscular junction disorder caused by potent toxins produced by the anaerobic, spore-forming, Gram-positive bacterium Clostridium botulinum. Food-borne botulism is caused by the ingestion of foods contaminated with botulinum toxin. In March 2006, there was a large outbreak of food-borne botulism associated with the ingestion of home-canned bamboo shoots in Thailand.

Congestive heart failure with rhabdomyolysis and acute renal failure in a manifesting female carrier of Duchenne muscular dystrophy with duplication of dystrophin gene.

We report a 69-year-old woman who presented with dyspnea, orthopnea, and acute renal failure. She also had proximal muscle weakness suggestive of muscle disease. Her symptoms were alleviated by induced dieresis, although there was high-serum creatine kinase.

Novel DYSF mutations in Thai patients with distal myopathy.

Dysferlinopathy refers to a variety of autosomal recessive, skeletal muscle disorders due to the mutations of dysferlin-encoding gene, DYSF. It encompasses limb-girdle muscular dystrophy type 2B (LGMD2B), Miyoshi myopathy (MM), distal myopathy with anterior tibial onset (DMAT), isolated hyperCKemia, rigid spine syndrome and congenital muscular dystrophy. Herein, we report five Thai patients with distal myopathy due to dysferlinopathy including four MM and one DMAT patients.

Electrodiagnosis of botulism and clinico-electrophysiological correlation.

Objective: An electrophysiological study can help to confirm the diagnosis of botulism. This study was aimed at validating a simple and reliable electrodiagnostic test and at correlating the findings with clinical severity.

Methods: Pre- and post-exercise single supramaximal stimulations (SSSs) were performed in 63 patients with botulism.

Idiopathic hypertrophic cranial pachymeningitis.

Idiopathic hypertrophic cranial pachymeningitis is a rare chronic inflammatory process of unknown origin that can cause neurological deficits owing to thickening of the dura. Patients with this condition commonly present with cranial neuropathy accompanied by localized headache. The clinical features, neuroimaging findings, histopathological features and treatment outcomes for three patients with this condition are reported here.

Relative fatigability of muscles in response to repetitive nerve stimulation in myasthenia gravis.

Background: Repetitive nerve stimulation (RNS) plays an important role in the diagnosis of myasthenia gravis (MG). Technically, this test can be more easily performed on distal muscles than proximal muscles. On the other hand, proximal muscles have been shown to be more easily fatigued or more sensitive than the distal ones.

POEMS syndrome with venous sinus thrombosis and visual failure: a case report.

POEMS (polyneuropathy, organomegaly, endocrinopathy, M protein and skin changes) syndrome is a multisystem disorder associated with plasma cell dyscrasia. Other clinical signs include clubbing of the fingers, edema, papilledema etc. Although papilledema and increased intracranial pressure are common features, their causes or pathophysiology have been uncertain.

Evaluation of electrophysiological response to thymectomy in patients with myasthenia gravis.

Clinical response to thymectomy in patients with myasthenia gravis varies in terms of timing and degree of improvement. Electrophysiological test is a reasonably reliable and objective way to evaluate neuromuscular transmission in these patients. The purpose of this study was to evaluate the electrophysiological response before and after thymectomy by repetitive nerve stimulation test in order to estimate the timing of initial improvement, progress and degree of improvement after thymectomy.

Oculopharyngodistal myopathy in a Thai family.

There has been controversy whether oculopharyngodistal myopathy (OPDM) commonly seen in Japan is a distinct disease entity or a variant of oculopharyngeal muscular dystrophy (OPMD) initially described in French-Canadians and has since been reported in other ethnic groups. Both diseases have autosomal dominant inheritance and OPDM patients are clinically similar to OPMD with slowly progressive ptosis, ophthalmoplegia and dysphagia except that most of the former usually have distal as opposed to proximal weakness and most of them are genetically different from the latter The authors report here 2 siblings with clinical features of OPDM. This entity is rare outside Japan and this is the first family to be reported from Thailand

Differentiation of dementia with Lewy bodies, Alzheimer's disease and vascular dementia by cardiac 131I-meta-iodobenzylguanidine (MIBG) uptake (preliminary report).

Objective: Differentiation of dementia with Lewy bodies (DLB), vascular dementia (VAD), and Alzheimer's disease (AD) is difficult in clinical practice. Several new techniques have been used for differentiation of various types of dementia. Among these techniques 123I-meta-iodobenzylguanidine (MIBG) uptake was reported to have benefit in distinguishing DLB from AD.

Long-term outcome and factors influencing the outcome of thymectomy for myasthenia gravis.

Thymectomy has gained widespread acceptance as a treatment for patients with myasthenia gravis (MG). Patients with myasthenia gravis who had undergone thymectomy by extended transsternal approach between 1981 and 1987 were retrospectively reviewed to evaluate the result of thymectomy, time to remission, time to maximum improvement and factors influencing remission after thymectomy. There were 128 patients, 45 men and 83 women and the mean ages at the time of thymectomy were 35.

Hiccups and multiple sclerosis.

Hiccups is a rare and unfamiliar presenting symptom of multiple sclerosis. Patients admitted to Ramathibodi Hospital from 1969 to 1992 who had a clinical diagnosis of multiple sclerosis were reviewed The presenting symptoms and neurological signs were analysed. The clinical features and course of the disease of cases who initially presented with intractable hiccups were studied in detail.