No abstract available.
Aged ; Female ; Humans ; Hypertension, Pulmonary/*etiology ; Mitochondrial Diseases/*complications/*pathology/physiopathology

This study aimed to identify the association between gamma-aminobutyric acid-A (GABA-A) receptor subunit beta3 (GABRB3) gene and autism spectrum disorders (ASD) in Korea. Fifty-eight children with ASD [47 boys (81.0%), 5.5 +/- 4.1 years old], 46 family trios, and 86 healthy control subjects [71 males (82.6%), 33.6 +/- 9.3 years old] were recruited. Transmission disequilibrium test revealed that, 183 bp long allele in GABRB3 gene was preferentially transmitted in families with ASD (p = 0.025), whereas a population-based case-control study, however, showed no association between ASD and GABRB3 microsatellite polymorphism. Our data provide preliminary evidence that GABRB3 gene is associated with ASD in Korea.
Adult ; Asian Continental Ancestry Group/*genetics ; Autistic Disorder/*genetics ; Child ; Child, Preschool ; Female ; Genetic Predisposition to Disease ; Humans ; Infant ; Korea ; Male ; Microsatellite Repeats/*genetics ; Pedigree ; Receptors, GABA-A/*genetics

The present study involved a detailed investigation of 3 cases of bifid rib, focusing on anatomical features, and classified them into 2 types. The bifid ribs were in the right fourth rib of all 3 male cadavers. The upper intercostal spaces of the fourth bifid rib were considerably narrowed, whereas the lower intercostal spaces were widened. Although the size and shape of the bifid space between the upper and lower divisions of the bifid rib were different, the intercostal muscles were present in the bifid space in all cases. The third anterior intercostal artery from the internal thoracic artery supplied the bifid space in all cases. In 2 cases, the fourth intercostal nerve ran along the inferior margin of the fourth bifid rib and innervated the muscles of the bifid space. In the third case, there was another branch from the third intercostal nerve supplying the muscles of the bifid space as well as the fourth intercostal nerve. The bifid ribs are associated with other diseases or develop accidentally or sporadically. Knowledge of this malformation is needed for the differential diagnosis with other diseases, such as a chest wall tumor or costal fracture.
Aged, 80 and over ; Cadaver ; Humans ; Male ; Middle Aged ; Ribs/*abnormalities/*anatomy & histology/radiography

Malignant obstruction develops frequently in advanced gastric cancer. Although it is primarily the gastric outlet that is obstructed, there are occasional reports of colonic obstruction. Treating intestinal obstruction usually requires emergency surgery or stent insertion. There are several kinds of complications with stent insertion, such as bowel perforation, stent migration, bleeding, abdominal pain and reobstruction. Nevertheless, endoscopic stent insertion could be a better treatment than emergency surgery in cases of malignant bowel obstruction in cancer patients with poor performance status. We report a case of advanced gastric cancer with carcinomatosis in which a recurrent colonic stent was inserted at the same site because of cancer growth into the stent. The patient maintained a good condition for chemotherapy, thus improving their chances for survival.
Aged ; Female ; Humans ; Intestinal Obstruction/etiology/radiography/*surgery ; Neoplasm Recurrence, Local ; Prosthesis Implantation/*methods ; *Stents ; Stomach Neoplasms

Herpes zoster is a relapse of varicella. In certain cases, long-term pain and hyperhidrosis have been noted. Appearance of herpes zoster during pregnancy is infrequent. We described hyperhidrosis and pain treatment using glycopirrolate cream in a pregnant woman with herpetic neuralgia. A 32 year old woman, 21 weeks pregnant with second child, complained to her gynecologist of the appearance of a vesicular rash on the left half of the forehead that progressed toward her left eyelid, accompanied by lancinating pain, allodynia, hyperhidrosis and small edema, blepharitis and conjunctivitis. Following clinical and laboratory tests, she was diagnosed with herpes zoster ophtalmicus. Aciclovir therapy was administered 800 mg orally five times daily for seven days. Pain therapy was initiated with amitriptilline. We discontinued amitriptilline therapy after 10 days because of appearance of unwanted side effects. After skin changes ceased, we introduced Lidocaine patch into pain therapy which reduced the allodynia, but not the lancinating pain and hyperhidrosis. At that time we began using glycopirrolate cream which reduced pain intensity by 28.5% within 24 hours, and completely eliminated hyperhidrosis. After 48 hours of use, the pain completely disappeared. During the Glycopirrolate cream therapy, there were no side effects. This is a first report to document that a topical Glycopirrolate cream has a beneficial effect in a patient with hyperhidrosis and herpetic neuralgia.
Adjuvants, Anesthesia/administration & dosage/*therapeutic use ; Administration, Topical ; Adult ; Female ; Glycopyrrolate/administration & dosage/*therapeutic use ; Herpes Zoster/*drug therapy/pathology ; Humans ; Neuralgia/pathology/*physiopathology ; Pregnancy

Cornelia de Lange syndrome is a congenital disease, basically characterized by psychomotor retardation associated with a series of malformations, including mainly skeletal, craniofacial deformities together with gastrointestinal and cardiac malformations. There is no definitive biochemical or chromosomal marker for the prenatal diagnosis of this syndrome. We actually want to present the case of a 10-year-old patient, who was admitted to our clinic for dental pain. The patient had the symptoms of Cornelia de Lange syndrome. During the oral examination of this patient, the patient was found to have the typical symptoms of Cornelia de Lange syndrome, such as micrognathia and delayed eruption in conjunction with the symptoms of the Hutchinson's syndrome, which had never been reported before.
Child ; De Lange Syndrome/*pathology/*physiopathology ; Humans ; Male ; Tooth/*pathology

Syphilis, along with the recent increase of human immunodeficiency virus (HIV) patients, has also been on the rise. It has a broad spectrum of clinical manifestations, among which cerebral gumma is, a kind of neurosyphilis, however, it is rare and can be cured by penicillin. Thus, cerebral gumma needs to be differentially diagnosed from other brain masses that may be present in syphilis patients. We have experienced a case where the patient was first suspected of brain tumor, but confirmed by surgery to be cerebral gumma due to neurosyphilis. This is the first such case encountered in Korea, therefore, we report it here in. A 40-year old woman complaining of headaches was found to have a brain mass on her CT scans and MRI. Suspecting a brain Tumor, a resection was performed on the patient, and histological results revealed that the central portion of the mass contained necrotic material and the peripheral region was infiltrated with plasma cells. Warthin-Starry staining of the region revealed spirochetes, and the patient was thus diagnosed as brain gumma. Venereal Disease Research Laboratory (VDRL) of cerebrospinal fluid (CSF) was reactive. After an operation, penicillin-G at a daily dose of 24x10(6) U was given for 10 days from post-operative day 10, and thereafter, the mass disappeared.
Adult ; Brain Neoplasms/*diagnosis/pathology/radiography ; Female ; HIV Infections/*diagnosis/radiography ; Humans ; Magnetic Resonance Imaging ; Neurosyphilis/*diagnosis/pathology/radiography ; Tomography, X-Ray Computed

The prognosis for patients with primary central nervous system (CNS) lymphoma (PCNSL) who relapse after the initial response is usually poor. A standard treatment for relapsed PCNSL has not yet been identified because of the heterogeneity of the therapies employed and the lack of large, prospective clinical trials. We describe a 46-year-old relapsed PCNSL patient who was successfully treated with intraventricular applications of rituximab to minimize neurotoxicity, 2 cycles of salvage chemotherapy with etoposide, ifosfamide, and cytarabine (VIA) regimen and high-dose chemotherapy with autologous stem cell rescue. The high-dose chemotherapy consisted of bischloroethylnitrosourea, etoposide, cytarabine, and melphalan (BEAM) regimen. Partial remission was detected after intraventricular rituximab therapy and the patient has been in complete remission without evidence of neurotoxicity for 28 months after high-dose chemotherapy with autologous stem cell rescue. This case indicates a new appropriate treatment guideline in relapsed PCNSL patient after initial intensive chemo-radiotherapy.
Antibodies, Monoclonal/*therapeutic use ; Central Nervous System Neoplasms/*drug therapy/*therapy ; Cytarabine/therapeutic use ; Etoposide/therapeutic use ; Female ; Humans ; Ifosfamide/therapeutic use ; Lymphoma, Non-Hodgkin/*drug therapy/*therapy ; Middle Aged ; Stem Cell Transplantation/*methods

PURPOSE: As a membrane protein at the insertion site of the slit diaphragm (SD) complex in podocyte foot processes, podocin has been reported to act as a scaffolding protein required to maintain or regulate the structural integrity of the SD. In order to identify proteins that associate or interact with podocin, we screened a mouse kidney complementary DNA (cDNA) library using a yeast 2-hybrid system. MATERIALS AND METHODS: 1) The full-length cDNA of podocin from the mouse kidney was amplified by Polymerase Chain Reaction (PCR), 2) The PCR product was cloned into a pGBKT7 vector, pGBKT7-podocin, 3) After the pGBKT7-podocin was transformed into AH109, the AH109/pGBKT7-podocin product was obtained, 4) The mouse kidney cDNA library was transformed into the AH109/pGBKT7-podocin and screened by selection steps, 5) Next, twelve clones were cultured and isolated, 6) The yeast-purified plasmids were transformed into Escherichia coli (E. coli) by heat shock, and 7) To identify the activation domain (AD)/library inserts, we digested them with Him III, and the fragments were then sequenced. RESULTS: 12 positive clones that interacted with podocin were obtained by screening a mouse kidney cDNA library using pGBKT7-podocin. Among them, only 4 clones were found to function at the podocyte where podocin is present. CONCLUSION: Additional studies are needed to clarify the role and interaction with podocin and candidates.
Animals ; Cloning, Molecular ; Intracellular Signaling Peptides and Proteins/genetics/*metabolism ; Membrane Proteins/genetics/*metabolism ; Mice ; Polymerase Chain Reaction ; Protein Binding ; *Two-Hybrid System Techniques

PURPOSE: To assess the prevalence of KRAS, BRAF, and TP53 mutations in cases of low-grade and high-grade serous carcinomas and to evaluate the clinical outcomes of these morphologically distinct carcinomas. MATERIALS AND METHODS: Patients with primary invasive serous carcinomas were classified according to the universal grading system. Grade 2 serous tumors were excluded. A total of 100 patients were included for clinical evaluation. Thirty-seven patients, including 20 with low-grade and 17 with high-grade carcinomas, were selected for mutational analysis. RESULTS: The low-grade carcinoma group was characterized by young age and premenopausal period compared with the high-grade carcinoma group, but there were no statistically significant differences in stage, metastasis of lymph node and residual disease. There were no statistically significant differences in survival rates, however, the low-grade carcinoma group showed a trend for improved progression-free survival compared with the high-grade carcinoma group of early stage (p = 0.064). Mutations in KRAS and BRAF were found in 6 (30%) and 2 (10%) patients in the low-grade carcinoma group, respectively, however, they were not found in the high-grade carcinoma group. KRAS and BRAF mutations were mutually exclusive, and both mutations were observed in 40% (8/20). The frequency of TP53 mutations in low-grade and high-grade carcinoma groups were found in 20% (4/20) and 70.6% (12/17), respectively (p = 0.009). CONCLUSION: Low-grade serous carcinoma shows mutation pattern different from that with high-grade carcinoma. As there were no significant differences in stage distribution and survival, especially in advanced stage, we suggest that more studies are needed to segregate these patients into distinct disease entities.
Adult ; Cystadenocarcinoma, Serous/*genetics ; DNA Mutational Analysis ; Female ; Humans ; Middle Aged ; Ovarian Neoplasms/*genetics ; Proto-Oncogene Proteins/*genetics ; Proto-Oncogene Proteins B-raf/*genetics ; ras Proteins/*genetics