Relationship Between Fragmented QRS Complexes and Cardiac Status in Duchenne Muscular Dystrophy: Multimodal Validation Using Echocardiography, Magnetic Resonance Imaging, and Holter Monitoring.

The presence of fragmented QRS is a known marker of heterogeneous ventricular activation around the myocardial scar area. We validated whether fragmented QRS shows any association with ventricular dysfunction, fibrosis, or ventricular arrhythmias in patients with Duchenne muscular dystrophy (DMD). Thirty-seven patients with DMD were evaluated using electrocardiography (ECG), echocardiography, cardiac magnetic resonance, and 24-h Holter monitoring. Associations between fragmented QRS and ventricular dysfunction, fibrosis, or ventricular arrhythmia were investigated. Fragmented QRS complexes were present in 31 of 37 (83.7%) patients, and they were associated with a significantly lower left ventricular ejection fraction along with an increased left ventricular Tei index as evaluated by echocardiography, and more frequent ventricular arrhythmia as indicated using 24-hour Holter monitoring compared with patients without fragmented QRS. The number of leads with fragmented QRS correlated negatively with left ventricular ejection fraction both using echocardiography (r = -0.616) and CMR (r = -0.516). Further, the number of leads with fragmented QRS showed a significant correlation with several other echocardiographic measurements (mitral Em and Sm, and left ventricular Tei index), and 2-dimensional speckle-tracking echocardiography derived global left ventricular longitudinal strain. The frequency of ventricular arrhythmia observed using Holter monitoring showed a significant positive correlation with the frequency of fragmented QRS on ECG (r = 0.674). There was a positive trend of correlation between fragmented QRS and the amount of myocardial fibrosis as assessed by late gadolinium enhancement using CMR, but the statistical significance of the relationship was low (r = 0.433, p = 0.056). Fragmentation of QRS complexes is associated with degrees of left ventricular dysfunction, fibrosis, and ventricular arrhythmias in patients with DMD.

Novel CLCN1 mutations and clinical features of Korean patients with myotonia congenita.

Myotonia congenita (MC) is a form of nondystrophic myotonia caused by a mutation of CLCN1, which encodes human skeletal muscle chloride channel (CLC-1). We performed sequence analysis of all coding regions of CLCN1 in patients clinically diagnosed with MC, and identified 10 unrelated Korean patients harboring mutations. Detailed clinical analysis was performed in these patients to identify their clinical characteristics in relation to their genotypes. The CLCN1 mutational analyses revealed nine different point mutations. Of these, six (p.M128I, p.S189C, p.M373L, p.P480S, p.G523D, and p.M609K) were novel and could be unique among Koreans. While some features including predominant lower extremity involvement and normal to slightly elevated creatine kinase levels were consistently observed, general clinical features were highly variable in terms of age of onset, clinical severity, aggravating factors, and response to treatment. Our study is the first systematic study of MC in Korea, and shows its expanding clinical and genetic spectrums.

Psychiatric disorder in two siblings with hallervorden-spatz disease.

Hallervorden-Spatz disease (HSD) is a rare autosomal-recessive hereditary disorder characterized by the early onset of progressive movement alterations, including dystonia, rigidity, choreoathetosis, and mental deterioration. HSD is also associated with a variety of psychiatric symptoms, primarily depression and mental deterioration. However, psychosis has rarely been reported as a major symptom of HSD. We report two siblings who presented psychiatric symptoms as major clinical presentations, accompanied by ataxic and spastic gait, dysarthria, and typical neuroimaging findings of HSD. A 14-year-old girl presented complex motor tics, stereotypic behavior and anxiety symptoms. Her older brother, a 16-year-old boy, presented prominent auditory hallucinations, persecutory delusions and social withdrawal symptoms. Psychiatric symptoms were improved after atypical antipsychotic treatment. HSD is a rare disease but should be carefully considered in the diagnosis of patients with both motor disorder and various psychiatric symptoms.

Comparative Analysis of Cognitive Function in Schizophrenia with and without Obsessive Compulsive Disorder.

OBJECTIVE: We investigated the neurocognitive deficits in schizophrenic patients with and without obsessive-compulsive disorder (OCD). METHODS: We grouped 27 patients as either obsessive-compulsive or non-obsessive-compulsive based on the presence of OCD. The two groups completed the Yale-Brown Obsessive-Compulsive Scale (Y-BOCS), Positive and Negative Symptom Scale (PANSS), and Hamilton Depression Scale. The intelligence quotient (IQ) was tested using the Korean Wechsler Adult Intelligence Scale. The memory quotient (MQ) was tested using the Korean-Auditory Verbal Learning and Korean-Complex Figure Test. The executive intelligence quotient (EIQ) was determined using the Kims executive intelligence test (EXIT). RESULTS: Ten of the 27 patients had OCD. The compulsion score of Y-BOCS was positively correlated with positive symptoms, negative symptoms, and the total scores of PANSS. The OCD-schizophrenia patients had higher IQs. No difference was found in MQ. Although the EIQ did not differ between the two groups, the OCD-schizophrenia patients performed better at the Stroop-interference and verbal fluency tests, which was highly dependent on executive function. CONCLUSION: Our findings suggest that OCD may have a protective effect on some cognitive function, at least in relatively early stage of illness. Moreover, based on clinical, neurocognitive features, schizophrenia with OCD could be considered as a distinct subtype of schizophrenia.

Protein nanopatterns and biosensors using gold binding polypeptide as a fusion partner.

An efficient strategy for immobilizing proteins on a gold surface was developed by employing the gold binding polypeptide (GBP) as a fusion partner. Using the enhanced green fluorescent protein (EGFP), severe acute respiratory syndrome coronavirus (SARS-CoV) envelope protein (SCVme), and core streptavidin (cSA) of Streptomyces avidinii as model proteins, specific immobilization of the GBP-fusion proteins onto the gold nanoparticles and generation of protein nanopatterns on the bare gold surface were demonstrated. The GBP-fused SCVme bound to gold nanoparticles successfully interacted with its antibody and showed changes in absorbance and color, allowing efficient diagnosis of SARS-CoV. The fusion proteins could be successfully immobilized on the gold surface by nanopatterning and microcontact printing as examined by atomic force microscopy and surface plasmon resonance analysis. The poly(dimethylsiloxane) microfluidic channels were created on the gold surface and were used for antigen-antibody and DNA-DNA interaction studies. Specific immobilization of GBP-EGFP fusion protein and its interaction with the antibody in the microchannels could be demonstrated. By immobilizing the DNA probe through the use of GBP-fused cSA, specific hybridization of the target DNA prepared from Salmonella could also be achieved. The GBP-fusion method allows immobilization of proteins onto the gold surface without surface modification and in bioactive forms suitable for studying protein-protein, DNA-DNA, and other biomolecular interaction studies. Furthermore, these studies can be carried out in a microfluidic system, which allows high-throughput analysis of biomolecular interactions.

Intrathecal movement and tension of the lumbosacral roots induced by straight-leg raising.

OBJECTIVE: To obtain quantitative biomechanical data on the effects of different angles of straight-leg raising on intrathecal movements and tensions in the lumbosacral nerve roots in human cadavers. DESIGN: Eight embalmed human cadavers with no gross spinal pathology and no limitations in hip motion were used. We performed reverse straight-leg raising by hanging the left leg down from the table with the knee extended while measuring the movement and tension of nerve roots L2, L3, L4, L5, and S1 in 10-degree intervals for straight-leg raising from 0 to 70 degrees. RESULTS: The mean intrathecal movements at 70 degrees were 0.55 mm, 0.54 mm, 0.96 mm, 1.54 mm, and 2.31 mm for roots L2, L3, L4, L5, and S1, respectively. The movements were statistically significant at >50 degrees for root L5 and at >40 degrees for root S1 (P < 0.05). The tension in the nerve roots with increasing angle of straight-leg raising increased from roots L2 to S1. The mean tensions at 70 degrees of straight-leg raising were 141.25 g, 168.75 g, 228.75 g, 280.00 g, and 493.75 g for roots L2, L3, L4, L5, and S1, respectively. The difference in tension was significant at >70 degrees for roots L2, L3, and L4 roots, at >40 degrees for root L5 root, and at >10 degrees for root S1 (P < 0.05). CONCLUSIONS: The intrathecal movement and tension of the lumbosacral roots induced by straight-leg raising were <2.5 mm and <500 g, respectively. The movement and tension induced by straight-leg raising tended to be greater in more distal segmental roots.