Wiskott-Aldrich syndrome (WAS) is an inherited X-linked disorder. The WAS gene is located on the X chromosome and undergoes mutations, which affect various domains of the WAS protein, resulting in recurrent infection, eczema, and thrombocytopenia. However, the clinical features and severity of the disease vary according to the type of mutations in the WAS gene. Here, we describe the case of a 4-year-old boy with a history of marked thrombocytopenia since birth, who presented with recurrent herpes simplex infection and late onset of eczema. Examination of his family history revealed that older brother, who died from intracranial hemorrhage, had chronic idiopathic thrombocytopenia. Therefore, we proceeded with genetic analysis and found a new deletion mutation in the WAS gene: c.858delC (p.ser287Leufs*21) as a hemizygous form.
Eczema ; Herpes Simplex ; Humans ; Intracranial Hemorrhages ; Methylmethacrylates ; Parturition ; Polystyrenes ; Sequence Deletion ; Siblings ; Thrombocytopenia ; Wiskott-Aldrich Syndrome ; X Chromosome

OBJECTIVE: We have studied the factors that influence the pregnancy rate in ovarian hyperstimulation and intrauterine insemination (IUI) in infertility patients. METHODS: Seventy two patients who visited the infertility clinic in Dongguk University Kyong-ju hospital from January 2002 to December 2003 underwent IUI after 99 cycles of ovarian hyperstimulation. We administered clomiphene with exogenous gonadotropin from cycle day 3 and then IUI was performed. The variables selected for retrospective analysis were patient's age (<35 years), duration (<6 years) and type (primary or secondary) and etiology of infertility, number of treatment cycles (>or=2), number of follicles (>or=2), size of dominant follicle (>or=18 mm), total sperm counts (>or=10 X 10(6)). Chi-square test, Fisher's exact test and a multiple logistic regression analysis were used to detect differences between groups in each variable. RESULTS: The pregnancy rate per patient was 29.2% (21/72) and 21.2% (21/99) per cycle. Factors that influenced pregnancy rate were age, number of treatment cycles, number of preovulatory follicles (>or=16 mm), and total inseminated motile sperm counts, all of which showed significant differences (p<0.05). Multiple logistic regression analysis identified significant predictors as age (<35 vs. >or=35), number of treatment cycles (2 cycle vs. 1 cycle), number of preovulatory follicles (>or=16 mm) (>or=3 vs. 1), and total inseminated motile sperm counts (>or=40 X 10(6) vs. <10 X 10(6)). The odds ratio of each of these variables were 12.6, 3.37, 11.64, and 10.59. CONCLUSION: For successful pregnancy rates in IUI after ovarian hyperstimulation, the patient's age, number of treatment cycles, number of preovulatory follicles, and total inseminated motile sperm counts should be considered.
Clomiphene ; Gonadotropins ; Gyeongsangbuk-do ; Humans ; Infertility ; Insemination* ; Logistic Models ; Odds Ratio ; Pregnancy Rate* ; Pregnancy* ; Retrospective Studies ; Sperm Count

No abstract available.
Hematoma ; Mesenteric Artery, Superior

Two cases of single ventricle were diagnosed in a 2 year and 5 months old female baby an. a 8 year old boy according to cardiac catheterization with selective cineangiogram. We report these cases with review of a little literature.
Cardiac Catheterization ; Cardiac Catheters ; Child ; Female ; Humans ; Infant ; Male

BACKGROUND/AIMS: To evaluate the expression of cellular inhibitor of apoptosis protein 2 (cIAP2) during gastric carcinogenesis after Helicobacter pylori (HP) infection and after HP eradication. METHODS: We divided non-cancer patients into four groups according to the status of HP infection and atrophic gastritis (AG)/intestinal metaplasia (IM). We compared cIAP2 mRNA expression among these four groups and patients with HP-positive early gastric cancer (EGC) by using real-time polymerase chain reaction (PCR). We evaluated the expression of cIAP2 messenger RNA (mRNA)/protein by using real-time PCR/immunohistochemistry and the degree of apoptosis with a terminal deoxynucleotidyl transferase-mediated nick end labeling assay before and 12 months after endoscopic submucosal dissection (ESD) in HP-positive EGC patients, regardless of whether they had undergone eradication therapy. RESULTS: The expression of cIAP2 mRNA was significantly higher in the groups with HP(+), AG/IM(+), and HP-positive EGC than in the control, HP(+), and AG/IM(−) groups (p<0.005). In the HP eradication group, the expression of cIAP2 mRNA/protein significantly decreased (p=0.006) and apoptosis increased at the 12-month follow-up after ESD. In the HP noneradication group, the aforementioned changes were not found during the same follow-up period. CONCLUSIONS: The expression of cIAP2 increased during gastric carcinogenesis after HP infection; HP eradication in the patients who had undergone ESD for EGC reversed overexpression of cIAP2 and suppressed cell apoptosis.
Apoptosis ; Carcinogenesis* ; Follow-Up Studies ; Gastritis, Atrophic ; Helicobacter pylori* ; Helicobacter* ; Humans ; Inhibitor of Apoptosis Proteins* ; Metaplasia ; Real-Time Polymerase Chain Reaction ; RNA, Messenger ; Stomach Neoplasms

Pulmonary sequestration is a congenital anomaly of lung in which a portion of lung par-enchyma has no communication with the tracheobronchial tree and receives its blood supply via systemic artery. Sequestration represents a developmental anomaly of tracheobronchial branching with persistence and localized development of a separated branch fragment and retention of its embryonic systemic vascular supply. In the review of the literature, this disease is so rare that only 540 cases were reported worldwide. The anomaly is divided into 2 types; intralobar and extralobar. The ratio of intralobar type and extralobar type is about 3.5 : 1 and intralobar type is more common than the latter in all age groups. The intralobar type is contiguous with normal lung parenchyma and within the same visceral pleural envelope ; in contrast, the extralobar type is enclosed within its own pleural membrane, usually close to a normal lung but separated and discovered most commonly in the left hemithorax with rare cases in the abdominal cavity. Traditionally, this disease has been presented as an incidental lung mass in routine chest X-ray in the postnatal period and with confirmation by aortic angiography, but recently, pulmonary sequestration is diagnosed in the antenatal period along with the development of antenatal ultrasonography. Ultrasonography shows the pulmonary sequestration as a hyperechogenic mass near the diaphragm with posterior echo-free shadow. We have experienced one case of pulmonary sequestration which was found by antenatal ultrasonography and confirmed by operation and histopathologic report in the neonatal period, and we present the case with a brief review of the literatures.
Abdominal Cavity ; Angiography ; Arteries ; Bronchopulmonary Sequestration* ; Diaphragm ; Humans ; Lung ; Membranes ; Thorax ; Ultrasonography*

PURPOSE: Current clinical data support a safe warm ischemia time (WIT) limit of 30 minutes during laparoscopic partial nephrectomy (LPN) or robot-assisted partial nephrectomy (RPN). We evaluated independent factors predicting prolonged WIT (more than 30 minutes) after LPN or RPN. MATERIALS AND METHODS: A retrospective data review was performed for 317 consecutive patients who underwent LPN or RPN performed by the same surgeon from October 2007 to May 2013. Patients were divided into two groups: group A was defined as prolonged WIT (> or =30 minutes) and group B as short WIT (<30 minutes). We compared clinical factors between the two groups to evaluate predictors of prolonged WIT. RESULTS: Among 317 consecutive patients, 80 were in the prolonged WIT group. Baseline characteristics were not significantly different between the groups. In the univariable analysis, PADUA (preoperative aspects and dimensions used for an anatomical) score (p=0.001), approach method (transperitoneal or retroperitoneal approach; p<0.001), and surgeon experience (p<0.001) were significantly associated with prolonged WIT. In the multivariable analysis, PADUA score (p=0.032), tumor size (> or =25 mm; odds ratio, 2.98; 95% confidence interval, 1.48-5.96; p=0.002), and surgeon experience (p<0.001) were independent predictors of prolonged WIT. CONCLUSIONS: Surgeon experience, tumor size, and PADUA score predicted prolonged WIT after RPN or LPN. Among these factors, increasing surgical experience with LPN or RPN is the most important factor for preventing prolonged WIT.
Adult ; Aged ; Carcinoma, Renal Cell/pathology/*surgery ; Clinical Competence ; Female ; Humans ; Intraoperative Period ; Kidney Neoplasms/pathology/*surgery ; Laparoscopy/methods ; Male ; Middle Aged ; Nephrectomy/*methods ; Pneumoperitoneum, Artificial/*methods ; Retrospective Studies ; Risk Factors ; Robotic Surgical Procedures/methods ; Warm Ischemia/*methods

Pseudomyxoma peritonei is a rare condition characterized by mucinous ascites associated with peritoneal and omental implants. This is most commonly originated from mucinous tumor of the ovary or appendix. We have experienced a case of pseudomyxoma peritonei associated with borderline mucinous tumor of both ovaries and appendix. We concluded that the appendix is the primary lesion of pseudomyxoma peritonei by various immunohistochemical stains and therefore reporting this case with the brief review of literatures.
Appendix* ; Ascites ; Coloring Agents ; Female ; Mucins* ; Ovary* ; Pseudomyxoma Peritonei*

The influence of temperature on the development and embryonation of Ascaris suum eggs was studied using coarse sand medium in an environmental chamber with 50% humidity. The time required for development and embryonation of eggs was examined under 3 different temperature conditions, 5degrees C, 25degrees C, and 35degrees C. A. suum eggs did not develop over 1 month at the temperature of 5degrees C. However, other temperature conditions, 25degrees C and 35degrees C, induced egg development to the 8-cell-stage at days 5-6 after incubation. All eggs examined developed to the 8-cell stage at day 6 after incubation in the sand medium at 25degrees C. The higher temperature, 35degrees C, slightly accelerated the A. suum egg development compared to 25degrees C, and the development to the 8-cell stage occurred within day 5 after incubation. The formation of larvae in A. suum eggs at temperatures of 35degrees C and 25degrees C appeared at days 17 and 19 after incubation, respectively. These findings show that 35degrees C condition shortens the time for the development of A. suum eggs to the 8-cell-stage in comparison to 25degrees C, and suggest the possibility of accelerated transmission of this parasite, resulting from global warming and ecosystem changes.
Animals ; Ascaris suum/*embryology/growth & development/*radiation effects ; Culture Media ; Eggs/radiation effects ; Humidity ; Larva/growth & development/radiation effects ; Silicon Dioxide ; Temperature

BACKGROUND: Methicillin-resistant Staphylococcus aureus (MRSA) infection has emerged in patients who do not have the established risk factors. In Korea, little is known about the epidemiology and clinical features of community-associated MRSA (CA-MRSA). MATERIAL AND METHODS: Clinical microbiology laboratory databases of 7 hospitals were reviewed to identify the patients from whom MRSA was isolated during the period of January to July 2005. Only one isolate per patient was enrolled. In order to identify the risk factors of MRSA acquisition, the medical records and the Health Insurance Review Agency databases were reviewed. CA-MRSA was defined as MRSA isolated from patient without established risk factors. We analyzed patient demographics, underlying medical conditions, characteristics of infection, and antimicrobial susceptibility profiles. RESULTS: Of total 3,251 S. aureus isolates, 1900 (58.4%) were MRSAs. Of the MRSA isolates, 114 (6.0%) were CA-MRSA. Of 114 CA-MRSA isolates, 22 (19.3%) were colonizers, 22 (19.3%) were pathogens, and the clinical significance of remaining 70 (61.4%) could not be determined. Median age of the 22 patients with CA-MRSA disease was 47 years. Nine patients had skin and soft tissue infections, 9 ear infections, 3 bacteremia, 1 septic arthritis. Seven patients had underlying medical disease. None died of the CA-MRSA infections. Of the 73 isolates of CA-MRSA, 47 (64.4%) were resistant to more than 3 classes of antibiotics besides beta-lactams. CONCLUSION: Although MRSA is highly prevalent among hospital-associated S. aureus infection, CA-MRSA infections are not common.
Anti-Bacterial Agents ; Arthritis, Infectious ; Bacteremia ; beta-Lactams ; Colon ; Demography ; Ear ; Epidemiology ; Humans ; Insurance, Health ; Korea* ; Medical Records ; Methicillin Resistance* ; Methicillin-Resistant Staphylococcus aureus* ; Risk Factors ; Skin ; Soft Tissue Infections