Electrodiagnostic Findings and Clinical Characteristics of Familial Hyperkalemic Periodic Paralysis With a SCN4A Met1592Val Mutation

BACKGROUND: Hyperkalemic periodic paralysis (HYPP) is characterized by episodic flaccid paralysis of skeletal muscles that is exacerbated by the consumption of potassium-containing foods, fasting, or rest following exercise. HYPP is largely diagnosed based on clinical features and electrodiagnostic findings. METHODS: Seven patients from three families were assessed by interviews and clinical examinations. Standardized protocols comprising short and long exercise tests were applied to 15 unaffected control subjects and the 7 patients with familial HYPP. RESULTS: Exercise of short duration induced an immediate increase in the amplitude of the compound motor action potential (CMAP) in the patients, and this was significantly larger and lasted longer than that observed in controls within 50 seconds (p<0.05). A long exercise test induced a large increase in the CMAP amplitude in patients immediately after exercise completion, which decreased to normal values with 1 minute. In contrast, controls showed a decreased CMAP amplitude immediately after exercise, which subsequently also returned to the normal value. Precipitants of attacks were vigorous exercise and hunger in all patients, and cold and potassium-rich foods in five patients. All patients experienced clinical myotonia at the eyelids or lips. CONCLUSIONS: We conclude that exercise tests may be helpful in confirming abnormal excitability of muscle membranes in patients with HYPP. We have described the clinical and electromyographic characteristics in familial HYPP with the Met1592Val mutation in the SCN4A gene.

Isolated Traumatic Gallbladder Rupture

Gallbladder (GB) injuries after blunt abdominal trauma are uncommon. An isolated blunt GB injury is extremely rare, due to the anatomic location of the GB that is protected by the liver, intestines, omentum and ribs. A GB injury follows a vague and insidious clinical course, and therefore GB injuries are commonly undiagnosed until an exploratory laparotomy is performed. Early diagnosis is important, as trauma to the GB should be treated surgically and a delay in treatment can result in considerable mortality and morbidity. We encountered a patient who was diagnosed with a GB rupture based on computed tomography that showed a hemoperitoneum, high-density material in the GB lumen and a leakage of contrast material. The patient underwent an exploratory laparotomy. We report a case of isolated GB rupture after blunt abdominal trauma.

Cumulative Pregnancy Rate of In Vitro Fertilization and Embryo Transfer With Intracytoplasmic Sperm Injection / 대한산부인과학회잡지

OBJECTIVE: To compare the clinical outcomes between Day 2 and Day 3 embryo transfer(ET) groups in in vitro fertilization and embryo transfer(IVF-ET) with intracytoplasmic sperm injection(ICSI). METHODS: From May, 1997 to December, 1998, 174 cycles of IVF-ET with ICSI were performed and classified into two groups: Day 2 ET group(n=134) and Day 3 ET group (n=40). In Day 3 ET group, embryos fertilized after ICSI were cultured in vitro for further 24 hours in M3 media. RESULTS: There were no significant differences in the age and BMI of patients, basal serum FSH level, protocol of controlled ovarian hyperstimulation(COH), indication of ICSI, and source of sperm for ICSI between two groups. Only the number of the previous failed IVF-ET cycles was significantly higher in Day 3 ET group(p<0.05). Serum E2 level on hCG day, the numbers of oocytes retrieved after COH, oocytes fertilized after ICSI, and embryos transferred, and the rates of fertilization, cleavage, and implantation showed no significant differences. However, cumulative embryo score(CES) was significantly higher in Day 3 ET group(p<0.05). Although there were no significant differences in the rates of pregnancy per ET, spontaneous abortion, and live birth, the rates of biochemical and multiple pregnancy were significantly higher in Day 3 ET group(p<0.05). CONCLUSIONS: In IVF-ET with ICSI, the relatively higher CES may contribute to the higher risk of multiple pregnancy in Day 3 ET group, compared with the conventional Day 2 ET group.

Immunohistochemical characteristics of Monocyte chemotactic protein-1 in the Endometrium of women with Endometriosis / 대한산부인과학회잡지

No abstract available.

Development of Multicolor Fluorescence In Situ Hybridization for Preimplantation Genetic Diagnosis in Human Embryos / 대한산부인과학회잡지

No abstract available.

Effect of Type 16 Human Papillomavirus Positivity in Uterine Cervix and Follicular Fluid of Infertile Women and Sperm of Their Spouses on Outcomes of In Vitro Fertilization and Embryo Transfer / 대한산부인과학회잡지

No abstract available.