A Case of Ankylosing Spondylitis Accompanied by Henoch-Schonlein Purpura and Chronic Inflammatory Demyelinating Polyneuropathy / 대한내과학회지

Peripheral nervous system dysfunction is a rare complication in Henoch-Schonlein purpura, but it tends to recover spontaneously without treatment. A 78-year-old man who had ankylosing spondylitis presented with Henoch-Schonlein purpura associated with progressive sensorimotor polyneuropathy. He was diagnosed with chronic inflammatory demyelinating polyneuropathy, which did not improve despite intravenous immunoglobulin therapy. We describe a case of Henoch-Schonlein purpura, accompanied by chronic inflammatory demyelinating polyneuropathy in a patient with ankylosing spondylitis.

Molecular and Clinical Characteristics of Myotonic Dystrophy Type 1 in Koreans / 대한진단검사의학회지

BACKGROUND: Myotonic dystrophy type 1 (DM1) is an autosomal-dominant muscular dystrophy caused by expansion of cytosine-thymine-guanine (CTG) trinucleotide repeats in the myotonic dystrophy protein kinase (DMPK) gene. The clinical features of DM1 are multisystemic and highly variable, and the unstable nature of CTG expansion causes wide genotypic and phenotypic presentations. The aim of this study was to characterize the molecular and clinical spectra of DM1 in Koreans. METHODS: The CTG repeats of 283 Korean individuals were tested by PCR fragment analysis and Southern blot. The following characteristics were assessed retrospectively: spectrum of CTG expansions, clinical findings, genotype-phenotype correlation, anticipation, and genetic instability. RESULTS: One-hundred twenty-four patients were confirmed as DM1 by molecular tests, and the CTG expansions ranged from 50 to 2,770 repeats (median 480 repeats). The most frequent clinical features were myotonia, muscular weakness, and family history. Patients with muscular weakness or dysfunction of the central nervous system harbored larger CTG expansions than those without each symptom (P<0.05). The age of onset was inversely correlated with the size of the CTG expansion (gamma=-0.422, P<0.001). The instability of CTG expansion representing as the maximum difference between sibships was observed from 50 to 700 repeats in nine families. Clinical anticipation and the increase in CTG repeat were significantly higher in maternally transmitted alleles (P=0.002). CONCLUSIONS: Molecular genetic tests are not only essential for diagnosis, but also helpful for suggesting the spectrum and relationship between genotype and phenotype in Korean DM1 patients.

Calcium-influx increases SOD1 aggregates via nitric oxide in cultured motor neurons

Familial amyotrophic lateral sclerosis (fALS) is caused by mutations in Cu/Zn-superoxide dismutase (SOD1), and SOD1 aggregation and calcium toxicity are involved in neuronal death. However, the effect of altered calcium homeostasis on the SOD1 aggregation is unknown. To investigate whether calcium triggers mutant SOD1 aggregation in vitro, human mutant SOD1 (G93A) was transfected into motor neuronal cell line (VSC 4.1 cells). These cells were then treated with calcium ionophore A23187 or agents that induce intracellular calcium release like cyclic ADP ribose, ryanodine or thapsigargin. A23187 was found to increase mutant SOD1 aggregation and neuronal nitric oxide synthase (nNOS) expression. Moreover, the NOS inhibitor (L-NAME) and a NO-dependent cyclic GMP cascade inhibitor (ODQ) reduced SOD1 aggregation, whereas an exogenous NO donor (GSNO) increased mutant SOD1 aggregation, which was also prevented by NOS or cGMP cascade inhibitor. Our data demonstrate that calcium-influx increases SOD1 aggregation by upregulating NO in cultured motor neuronal cells.

The Effect of BF-7 on the Ischemia-induced Learning and Memory Deficits / 대한해부학회지

Abnormal blood supply to brain, such as ischemia induce neuronal damages, possibly leading to dementia. Such damages should be attenuated by neuroprotective materials which make neurons tolerable against limited blood supply or reinforce of blood. For the animal study, transient middle cerebral artery occlusion was operated with SD rat. To check whether BF-7 attenuated the ischemic damage, BF-7 (10 mg/kg) was oral treated for 7 days once a day. To evaluate the learning and memory of the rat, 8-arm maze test was conducted. For clinical study, Rey Complex Figure Test (RCFT) was used with control group (32 person), 200 mg treated group (33 person) and 400 mg treated group (34 person). Treatment of BF-7 greatly reduced the infarct size. Also the neuronal damages in the hippocampus were significantly diminished. Furthermore, The memory impairment by ischemia was recovered. The clinical test showed that BF-7 greatly enhanced the brain function recognizing and memorizing complex two dimensional figures. Our results implicated that BF-7 plays a positive roles on protecting brain and enhancing brain unction clinically.

The Role of BF-7 on Enhancement of Memory and Cognitive Funtion / 대한해부학회지

Various factors such as senescence, stress, neurodegenerative diseases including Alzheimer's disease (AD) contribute to the impairments of organs, especially brain. Also, they should be negative factors on normal brain function, like as memory and cognition. In this study, the neuroprotective role of BF-7, extracted from Bombyx mori, was examined agaist scopolamine-induced neurotoxicity in SK-N-SH cells. In order to know if the BF-7 has positive role on the cognition and memory, we examined using SD rat model and human. Scopolamine-induced memory impairments were observed, as measured by the passive avoidance and water maze tests, but treatment with BF-7 significantly improved memory and cognitive function. Moreover, the memory index and memory preservation of clinical experiments using MMSE-K tests were significantly improved memory and cognitive function. This results strongly represent that the BF-7 play effectively positive role in the improvement of brain function including learning and memory. Taken together, our results suggested that the BF-7 should be useful for developing strategies protecting nervous system and improving brain function.