No abstract available.
Humans

Tetrodotoxin (TTX) cause neurologic dysfunction by blocking the voltage-gated sodium channels located in all of the peripheral nerves and muscles. We experienced two patients presenting with generalized motor weakness after ingestion of pufferfish. The nerve conduction study showed diffuse slowing of motor and sensory nerve conduction velocity, prolonged motor terminal latency and decreased sensory nerve action potentials without temporal dispersion or conduction block. Abnormal findings of nerve conduction study improved rapidly without any deterioration. Clinical symptoms and signs ameliorated in accordance with findings of nerve conduction study without any neurologic sequelae. These imply that tetrodotoxication is reversible and functional neurologic disorder. We suggest that nerve conduction studies can be available in serial monitoring of tetrodotoxication as an objective means.
Action Potentials ; Eating ; Humans ; Muscles ; Nervous System Diseases ; Neural Conduction ; Neurologic Manifestations ; Peripheral Nerves* ; Tetraodontiformes ; Tetrodotoxin ; Voltage-Gated Sodium Channels

Dermatomyositis (DM) is an idiopathic inflammatory myopathy with bimodal onset age distribution. The age of onset is between 5-18 yr in juvenile DM and 45-64 yr in adult DM. DM has a distinct clinical manifestation characterized by proximal muscle weakness, skin rash, extramuscular manifestations (joint contracture, dysphagia, cardiac disturbances, pulmonary symptoms, subcutaneous calcifications), and associated disorders (connective tissue disease, systemic autoimmune diseases, malignancy). The pathogenesis of juvenile and adult DM is presumably similar but there are important differences in some of the clinical manifestations, associated disorders, and outcomes. In this study, we investigated the clinical characteristics and outcomes of 16 patients with juvenile DM and 48 with adult DM. This study recognizes distinctive characteristics of juvenile DM such as higher frequency of neck muscle involvement, subcutaneous calcifications, and better outcomes.
Adolescent ; Adult ; Age of Onset ; Aged ; Anti-Inflammatory Agents/therapeutic use ; Calcification, Physiologic ; Dermatomyositis/*diagnosis/mortality/therapy ; Exanthema/diagnosis ; Female ; Humans ; Male ; Middle Aged ; Muscle Weakness/diagnosis ; Prednisolone/therapeutic use ; Prognosis ; Severity of Illness Index ; Survival Rate

Splenic epidermoid cyst is a rare disease affecting the spleen. We report a 24-year-old male who presented with acute abdominal pain. Computed tomography scan of the abdomen revealed a huge cystic lesion of the spleen. At laparotomy, a huge cyst was found arising from the low pole of the spleen. It was removed by splenectomy. Histopathological findings were consistent with splenic epidermoid cyst.
Abdomen ; Abdominal Pain ; Epidermal Cyst ; Humans ; Laparotomy ; Male ; Rare Diseases ; Spleen ; Splenectomy ; Young Adult

Splenic epidermoid cyst is a rare disease affecting the spleen. We report a 24-year-old male who presented with acute abdominal pain. Computed tomography scan of the abdomen revealed a huge cystic lesion of the spleen. At laparotomy, a huge cyst was found arising from the low pole of the spleen. It was removed by splenectomy. Histopathological findings were consistent with splenic epidermoid cyst.
Abdomen ; Abdominal Pain ; Epidermal Cyst ; Humans ; Laparotomy ; Male ; Rare Diseases ; Spleen ; Splenectomy ; Young Adult

Eccrine poroma is a benign tumor, which is thought to originate from the epidermal eccrine sweat duct unit. It occurs primarily on the hairless acral surface. However, there have been some cases occurring in atypical area like scalp and face. In general, eccrine poroma lacks melanin pigment clinically and melanocytes on microscopic examination. However, in either black or yellow skin, melanin granules and melanocytes can occasionally be found dispersed within the tumor. We report a case of pigmented eccrine poroma occurring on the scalp. The lesion was located on an unusual occurring site as well as contained melanocyte and melanin.
Melanins ; Melanocytes ; Poroma ; Scalp ; Skin ; Sweat

Cutaneous metastasis from the ovarian cancer has been found to be exceedingly rare. We report a case of a metastatic ovarian mucinous cystadenocarcinoma, which clinically manifested as the epidermal cyst-like skin nodule on the right upper quadrant of abdomen.
Abdomen ; Cystadenocarcinoma, Mucinous ; Humans ; Neoplasm Metastasis ; Ovarian Neoplasms ; Skin

Eruptive collagenoma is an acquired connective tissue nevus composed predominantly of collagen. We present a case of eruptive collagenoma in a 13-years-old female who had asymptomatic multiple 3 to 9 mm sized flesh colored scattered papules on both limbs. In addition, the differential diagnosis and other types of cutaneous collagenomas are briefly discussed.
Collagen ; Connective Tissue ; Diagnosis, Differential ; Extremities ; Female ; Humans ; Nevus

Glycogen storage disease type V (GSD-V) is the most common disorder of muscle glycogenosis with characteristic clinical and laboratory findings. A 32-yr-old woman complained of exercise intolerance and myoglobulinuria since early adolescence. She reported several episodes of second-wind phenomenon. Physical examination did not show any neurological abnormality, including fixed muscle weakness or atrophy. Serum creatine kinase level was 1,161 IU/L at rest. The result of the non-ischemic forearm exercise test was compatible with GSD-V. Mutation analysis identified the compound heterozygous mutations of the PYGM, p.D510fs and p.F710del, which has not yet been reported in Korea. The present case recognizes that detail clinical and laboratory analysis is the first step in the diagnosis of GSD-V.
Adult ; Base Sequence ; Creatine Kinase/blood ; Exons ; Female ; Frameshift Mutation ; Gene Deletion ; Genotype ; Glycogen Phosphorylase, Muscle Form/genetics ; Glycogen Storage Disease Type V/*diagnosis/genetics/pathology ; Humans ; Pedigree ; Sequence Analysis, DNA

PURPOSE: Neonatal respiratory distress syndrome (RDS) is caused by the deficiency of pulmonary surfactants in the newborn. We aim to determine and compare the physical and biological activities of the three surfactants currently on the market, namely Newfactan(R), Surfacten(R) and Exosurf(R). METHODS: For physical activities, we performed the stable microbubble test (SMR) and Pulsating Bubble Surfactometer (PBS). The minimum and maximum surface tensions measured at 1 and 5 minutes allowed us to create the surface-tension diagrams, from which the compressibility at a surface tension of 10 mN/m was calculated for all three products. The biological activities were compared using the pressure-volume curves measured from premature rabbit fetuses. RESULTS: For all three products, the concentration of surfactant and the number of stable microbubbles exhibited a proportional increase in relationship. For both Newfactan(R) and Surfacten(R), the minimal surface tensions were lower than 10 mN/m at 1 and 5 minutes. Hysteresis was evident at 1 and 5 minutes for both Newfactan(R) and Surfacten(R), and their surface tensions were reduced below 10 mN/m at 20% surface compression. As for Exosurf(R), all the hysteresis measurements were below expectations, and the reduction in surface tension during compression was also minimal. The compressibilities at a surface tension of 10 mN/m and measured at 1 and 5 minutes for Newfactan(R) and Surfacten(R), were less than 0.020 cm/dyne at almost concentrations. The pulmonary surface areas of the fetal rabbits were, after aeration by a maximum of 30 cmH2O, adequately maintained after decompression to 5 cmH2O in the groups treated with Newfactan(R) and Surfacten(R). However, the lung volume was not maintained upon decompression to 5 cmH2O in the groups treated with Exosurf(R). CONCLUSIONS: Newfactan(R) and Surfacten(R) were effective agents in prevention of pulmonary collapse in premature lungs.
Decompression ; Fetus ; Humans ; Infant, Newborn ; Lung ; Microbubbles ; Motor Activity ; Pulmonary Surfactants ; Rabbits ; Respiratory Distress Syndrome, Newborn ; Surface Tension ; Surface-Active Agents