Pulmonary functions and sleep-related breathing disorders in lipid storage disease.

Purpose: Pulmonary function abnormalities and sleep-related breathing disorders (SRBD) are frequent in subjects with several neuromuscular diseases but there is no data about lipid storage diseases (LSD). Therefore, we aimed to evaluate pulmonary functions and SRBD in adults with LSD.

Methods: Pulmonary functions (forced expiratory volume (FEV), forced vital capacity (FVC), supine FVC, upright-supine FVC% change, maximal inspiratory pressure (MIP), maximal expiratory pressure (MEP), peak cough flow (PCF)), arterial blood gases, and polysomnographic data of all subjects were evaluated.

Evaluation of biventricular functions with tissue Doppler imaging in patients with myotonic dystrophy.

Background: Myotonic dystrophy (MD) is characterized by myotonia with dystrophic involvement of the muscles. Cardiac involvement is usually not evident in the early stages of MD.

Hypothesis: We investigated biventricular functions by tissue Doppler imaging (TDI) in MD patients with no overt cardiac involvement to explore the value of TDI in the early detection of myocardial dysfunction.

Mitochondrial pathology in muscle of a patient with a novel parkin mutation.

Mutations of the parkin gene on chromosome 6 cause early-onset parkinsonism. Myopathy has not been reported to be a feature of this condition. Here we report the muscle biopsy findings of a 53-year-old man with a novel parkin gene mutation (IVS-9-1 deletion).

Early outcomes of video-assisted thoracoscopic resection of thymus in 181 patients with myasthenia gravis: who are the candidates for the next morning discharge?

The aims of this study are to present the results of videothoracoscopic thymectomy in patients with myasthenia gravis (MG) and to predict the factors affecting the next morning discharge (NMD). This is a retrospective analysis of the prospectively recorded data of 181 consecutive myasthenic patients who underwent videothoracoscopic thymectomy from June 2002 to September 2009. Sixty-one patients (33.

Scapulothoracic arthrodesis in facioscapulohumeral dystrophy with multifilament cable.

Unlabelled: Patients with facioscapulohumeral dystrophy (FSHD) are affected mostly by impaired shoulder function. Scapulothoracic arthrodesis was introduced to improve shoulder function. We evaluated the outcomes of scapulothoracic arthrodesis using multifilament cables, performed on 13 patients with FSHD (18 shoulders).

Natural history of SMA IIIb: muscle strength decreases in a predictable sequence and magnitude.

Objective: To assess the natural progression of muscle weakness in spinal muscular atrophy (SMA) IIIb.

Methods: Ten patients with SMA IIIb were followed for at least 10 years. Age at disease onset varied between 9 and 18 years.

Thymoma appearing 10 years after an extended thymectomy for myasthenia gravis.

Occurrence of thymoma after an extended thymectomy through a full median sternotomy for nonthymomatous thymectomy has been very rarely reported. A 60-year-old male patient who had myasthenia gravis (MG) for 11 years had an extended thymectomy operation with a pathology of thymic hyperplasia and developed a mass in the aortopulmonary window. We resected the mass via anterior left thoracotomy by dividing the ductus arteriosus and mobilizing the aorta.

Videothoracoscopic thymectomy for nonthymomatous myasthenia gravis: results of 90 patients.

Background: Videothoracoscopic thymectomy is an alternative surgical procedure for patients with nonthymomatous myasthenia gravis. The aim of this study is to present our experience and to analyze the factors contributing to the operative morbidity.

Methods: Ninety myasthenia gravis patients were operated through right-sided videothoracoscopy from June 2002 to September 2006.

Polymorphisms of interferon-gamma, interleukin-10, and interleukin-12 genes in myasthenia gravis.

To assess the involvement of polymorphisms in genetic susceptibility to myasthenia gravis (MG), this study analyzed four polymorphisms of interferon (IFN)-gamma, interleukin (IL)-10, and IL-12 genes in 115 patients and 204 healthy controls (HC). IFNG +874T carriers were less frequent in MG, in patients with anti-acetylcholine receptor (AChR) (63%) and anti-titin (56.2%) antibodies compared with HC (p = 0.

Camptocormia in a patient with Parkinson disease and a myopathy with nemaline rods.

Camptocormia, also referred to as bent spine, is a gait disorder characterized by hyperflexion of the thoracolumbar spine that develops in recumbent position while walking and that disappears in supine position. Myopathy is one of the frequent causes of camptocormia. A 77-yr-old male patient who was followed up with the diagnosis of rheumatoid arthritis for 2 yrs was admitted with progressive gait deterioration.

Incidental raised transaminases: a clue to muscle disease.

Twenty-one patients with incidental hypertransaminasaemia who were eventually diagnosed as muscular dystrophy are described. There were two females and 19 males aged between 2 and 11 years [mean (SD) 6.7 (3.

Decrement pattern in Lambert-Eaton myasthenic syndrome is different from myasthenia gravis.

The decrement pattern at low rates of repetitive nerve stimulation in myasthenia gravis (MG) is characterized by a decrease of compound muscle action potential size within the first 4-5 responses. With subsequent stimuli, compound muscle action potential size either increases or does not change. Following an observation that the pattern of decrement might be different in patients with Lambert-Eaton myasthenic syndrome (LEMS), we retrospectively studied traces from eight LEMS patients and 14 patients with seropositive generalized MG, calculating decrement percent from first to fourth and from first to ninth compound muscle action potential.

HLA-DQ polymorphism in Turkish patients with myasthenia gravis.

Genetic susceptibility to myasthenia gravis (MG) is reported frequently and varies depending on the clinical presentation of the patients. HLA-DQ genotyping was performed in 132 patients using polymerase chain reaction and sequence-specific oligonucleotide hybridizations in the Turkish population for the first time in this study. Antibody positivities against acetylcholine receptor and titin were 81 and 27%, respectively.

Clinicopathological and genetic study of early-onset demyelinating neuropathy.

Autosomal recessive demyelinating Charcot-Marie-Tooth disease (CMT4), Dejerine-Sottas disease and congenital hypomyelinating neuropathy are variants of hereditary demyelinating neuropathy of infancy, a genetically heterogeneous group of disorders. To explore the spectrum of early-onset demyelinating neuropathies further, we studied the clinicopathological and genetic aspects of 20 patients born to unaffected parents. In 19 families out of 20, consanguinity between the parents or presence of an affected sib suggested autosomal recessive transmission.

Cytokines and chemokines in neuro-Behçet's disease compared to multiple sclerosis and other neurological diseases.

Cytokines and chemokines in cerebrospinal fluid (CSF) can have implications on the pathogenesis of neuro-Behçet's disease (NB). CSF and serum samples from 33 patients with NB, 25 with multiple sclerosis (MS), 20 patients with infectious and/or inflammatory neurological diseases (IN) and 14 with other noninflammatory neurological diseases (NIN) were investigated by ELISA. In the CSF, CXCL10 levels were significantly higher in NB and IN than NIN and MS, whereas CXCL8 was increased in NB compared to NIN.

Epileptic seizures in Behçet disease.

Purpose: To outline the clinical characteristics of seizures in our large series of Behçet disease (BD) patients with neurologic involvement.

Methods: All files of 223 patients with neuro-BD were evaluated retrospectively, and the group with clearly documented seizures was included in the current study. Clinical characteristics, EEG, neuroimaging and cerebrospinal fluid findings were reevaluated, and the seizures were classified according to the new proposed criteria of the International League Against Epilepsy.