Background/Aims: Omalizumab is the first biologic known to be effective in patients with severe allergic asthma. Methods: This study was conducted as a multicenter, single-group, open trial to evaluate the improvement in the quality of life with the additional administration of omalizumab for 24 weeks in Korean patients with severe persistent allergic asthma. Results: Of the 44 patients, 31.8% were men and the mean age was 49.8 ± 11.8 years. A score improvement of 0.5 points or more in the Quality of Life Questionnaire for Korean Asthmatics (KAQLQ) was noted in 50.0% (22/44) of the patinets. In the improved group, the baseline total immunoglobulin E (IgE) level and the amount of omalizumab used were higher, and the day and night asthma symptoms were more severe, compared to those in the non-improved group. According to the Global Evaluation of Treatment Effectiveness, favorable outcomes were found in 78.6% of patients. The Korean asthma control test (p < 0.005) and forced expiratory volume in 1 second % predicted (FEV1%; p < 0.01) improved significantly in patients who received omalizumab treatment, compared to that at week 0, and the total dose of rescue systemic corticosteroids significantly decreased (p < 0.05). The improved group on KAQLQ showed a significant improvement in FEV1% (p < 0.001). Conclusions Omalizumab can be considered a biological treatment for Korean patients with severe allergic asthma. It is recommended to consider omalizumab as add-on therapy in patients with high baseline total IgE levels and severe asthma symptoms.

Background/Aims: Omalizumab is the first biologic known to be effective in patients with severe allergic asthma. Methods: This study was conducted as a multicenter, single-group, open trial to evaluate the improvement in the quality of life with the additional administration of omalizumab for 24 weeks in Korean patients with severe persistent allergic asthma. Results: Of the 44 patients, 31.8% were men and the mean age was 49.8 ± 11.8 years. A score improvement of 0.5 points or more in the Quality of Life Questionnaire for Korean Asthmatics (KAQLQ) was noted in 50.0% (22/44) of the patinets. In the improved group, the baseline total immunoglobulin E (IgE) level and the amount of omalizumab used were higher, and the day and night asthma symptoms were more severe, compared to those in the non-improved group. According to the Global Evaluation of Treatment Effectiveness, favorable outcomes were found in 78.6% of patients. The Korean asthma control test (p < 0.005) and forced expiratory volume in 1 second % predicted (FEV1%; p < 0.01) improved significantly in patients who received omalizumab treatment, compared to that at week 0, and the total dose of rescue systemic corticosteroids significantly decreased (p < 0.05). The improved group on KAQLQ showed a significant improvement in FEV1% (p < 0.001). Conclusions Omalizumab can be considered a biological treatment for Korean patients with severe allergic asthma. It is recommended to consider omalizumab as add-on therapy in patients with high baseline total IgE levels and severe asthma symptoms.

Fetal alcohol syndrome (FAS) is a developmental neuropathology resulting from in utero exposure to ethanol; many of ethanol's effects are likely to be mediated by the neurotransmitter gamma-aminobutyric acid (GABA). We studied modulation of the neurotransmitter receptor GABABR and its capacity for intracellular signal transduction under conditions of ethanol treatment (ET) and RNA interference to investigate a potential role for GABA signaling in FAS. ET increased GABAB1R protein levels, but decreased protein kinase A-alpha (PKA-alpha), calcium/calmodulin-dependent protein kinase II (CaMKII) and phosphorylation of cAMP-response element binding protein (p-CREB), in cultured hippocampal neurons harvested at gestation day 17.5. To elucidate GABAB1R response to ethanol, we observed the effects of a GABABR agonist and antagonist in pharmacotherapy for ethanol abuse. Baclofen increased GABABR, CaMKII and p-CREB levels, whereas phaclofen decreased GABABR, CaMKII and p-CREB levels except PKA-alpha. Furthermore, when GABAB1R was knocked down by siRNA treatment, CaMKII and p-CREB levels were reduced upon ET. We speculate that stimulation of GABAB1R activity by ET can modulate CaMKII and p-CREB signaling to detrimental effect on fetal brain development.
Animals ; Baclofen ; Brain ; Calcium-Calmodulin-Dependent Protein Kinase Type 2 ; Carrier Proteins ; Ethanol ; Fetal Alcohol Syndrome ; gamma-Aminobutyric Acid ; Hippocampus ; Neurons ; Neurotransmitter Agents ; Phosphorylation ; Pregnancy ; Protein Kinases ; Rats ; Receptors, Neurotransmitter ; RNA Interference ; RNA, Small Interfering ; Signal Transduction

Sclerosing stromal tumor (SST) is an uncommon benign tumor of the ovary, representing 2~6% of all stromal ovarian tumors. It is a distinct benign neoplasm that differs from fibromas, thecomas, luteinized tumors and steroid cell tumors. It presents most often with non-specific symptoms and tumor markers usually remain normal. However massive ascites is a rare symptom. We report a case of sclerosing stromal tumor with massive ascites and elevated CA 125 with brief review of literature.
Ascites ; Female ; Fibroma ; Lutein ; Ovary ; Thecoma ; Biomarkers, Tumor

Sclerosing stromal tumor (SST) is an uncommon benign tumor of the ovary, representing 2~6% of all stromal ovarian tumors. It is a distinct benign neoplasm that differs from fibromas, thecomas, luteinized tumors and steroid cell tumors. It presents most often with non-specific symptoms and tumor markers usually remain normal. However massive ascites is a rare symptom. We report a case of sclerosing stromal tumor with massive ascites and elevated CA 125 with brief review of literature.
Ascites ; Female ; Fibroma ; Lutein ; Ovary ; Thecoma ; Biomarkers, Tumor

Granulosa cell tumors of ovary are rare neoplasms, which account for 2~5% of all ovarian malignancies. Ovarian granulosa cell tumors are often associated with endometrial hyperplasia or carcinoma. The endometrial carcinoma is thought to occur under the influence of the estrogen receptor pathway and is typically a low-grade endometrioid adenocarcinoma. We present a case of granulosa cell tumor of the ovary and synchronous endometrial carcinoma that were managed with laparoscopically assisted vaginal hysterectomy and bilateral salpingo-oophorectomy, with brief review of literature.
Adult ; Carcinoma, Endometrioid ; Endometrial Hyperplasia ; Endometrial Neoplasms ; Estrogens ; Female ; Granulosa Cell Tumor ; Granulosa Cells ; Humans ; Hysterectomy, Vaginal ; Laparoscopy ; Ovary

Congenital nephrotic syndrome is defined as nephrotic syndrome which manifests in utero or during the first 3 months of life. The prototype of congenital nephrotic syndrome is congenital nephrotic syndrome of Finnish type (CNF, OMIM #602716), which is caused by loss-of-function mutations of the nephrin gene (NPHS1). There have been few clinical case reports of CNF in Korea, but none of which was confirmed by genetic study. Here, we report two children with congenital nephrotic syndrome. Genetic analysis of the NPHS1 gene revealed compound heterozygous frame-shifting mutations (c.2156_2163 delTGCACTGC causing p.L719DfsX4 and c.3250_3251insG causing p.V1084GfsX12) in one patient and a missense mutation (c.1381G>A causing p.R460Q) and a nonsense mutation (c.2442C>G causing p.Y814X) in the other patient. The nonsense mutation was novel. The clinical courses of the patients were typical of CNF. This is the first report of genetically confirmed CNF in Korea to date. The early genetic diagnosis of CNF is important for proper clinical management of the patients and precise genetic counseling of the families.
Base Sequence ; Biopsy ; Codon, Nonsense ; Female ; Frameshift Mutation ; Humans ; Infant ; Infant, Newborn ; Korea ; Male ; Membrane Proteins/*genetics ; Microscopy, Electron/methods ; Molecular Sequence Data ; Mutation ; Nephrotic Syndrome/*diagnosis/*genetics

Adenomyoma is a benign tumor composed of smooth muscle and benign endometrium. These tumors typically originate within the uterus. An extrauterine adenomyoma is a rare entity. Cystic degeneration of adenomyoma is also very rare case. We report a case of huge extrauterine endometrioid-type adenomyoma with cystic change with brief review of literature.
Adenomyoma ; Endometrium ; Female ; Muscle, Smooth ; Uterus