No abstract available.
Dizocilpine Maleate* ; Dopamine* ; Methamphetamine*

An autopsy case of male pseudohermaphrodite associated with Bochdalek diaphragmatic hernia is reported. This newborn infant showed a large clitoris and hypospadic urethra which was the only opening in the perineum except for the anus. There were urethrovaginal fistula and uterus didelphys. The adrenals were slightly larger than normal, but microscopically did not show any features of cortical hyperplasia. Well formed testes were found and were histologically unremarkable. In addition, Bochdalek type of diaphragmatic hernia was present, associated with severe left lung hypoplasia and massively herniated abdominal organs into the chest cavity, shifting the mediastinum considerably and eventually led to death in a few minutes after birth. The pathogenesis of genital anomaly and diaphragmatic hernia is briefly discussed and it is suggested that this type of genital abnormality might be due to defect of testicular M llerian inhibitor factor and can be categorized as incomplete male pseudohermaphroditism.
Infant ; Male ; Female ; Infant, Newborn ; Humans

Fifty three surgically resected gallbladders(49 cases of chronic cholecystitis with or without cholelithiasis, 4 cases of incidentally resected gallbladders) and 14 autopsy cases were subjected to the histotopographic analysis to identify the nature and distribution of metaplastic mucosal changes, and to determine the possible histogenesis of these mucosal lesions and diagnostic implication as a parameter of chronic cholecystitis. 1) Antral type glands were demonstrated in 47(88.7%), goblet cells in 19(35.8%) and surface epithelial changes in 27(50.9%) of total surgical specimens, indicating the benign metaplastic changes of the gallbladder mucosa toward the gastric or intestinal type. 2) Topographic distribution illustrated the extension of antral type gland to the middle and upper one third portions of the gallbladder mucosa in 37 cases, each. Goblet cells in the middle and upper one third of the mucosa were demonstrable in 13 cases(68%) an 8 cases(42%), respectively. 3) Average age by degree of extension was 50.0 years in Grade O-I, 50.1 years in Grade II and 56.4 years in Grade III. 4) Among 53 surgically resected gallbladders, gallstone was found in 31 cases, in which was a significant correlation between the distribution of metaplastic changes by degree of extent and cholelithiasis. 5) There was no statistical significance between incidence of metaplastic changes of the gallbladder and degree of inflammatory reaction by means of chronic and/or acute inflammatory cell infiltration and Rokitansky-Aschoff sinus formation. 6) Only two out of fourteen autopsy cases demonstrated focal and spotty presence of goblect cells. It is of authors assumption that the lining epithelium of the gallbladder undergos various types of metaplastic changes in the diseased conditions, in which cholelithiasis is included as one of preceding factor. And also, the diagnostic implication of epithelial metaplasia as an expression of chronic cholecystitis is discussed.
Incidence

Human carboxylesterase 1 (CES1) is a serine esterase that hydrolyzes various exogenous compounds. Single nucleotide polymorphisms (SNPs) of CES1 may lead to inter-individual metabolic variability of its substrates. The allele and haplotype frequencies of known SNPs have been demonstrated to vary among ethnic groups. We analyzed genetic variations of CES1 in a Korean population. Direct sequencing of all exons and flanking regions of the CES1 gene was performed on samples obtained from 200 Koreans. We identified 41 SNPs. The most frequent SNPs was -914G>C (frequency: 99.5%), followed by 4256G>A (frequency: 65.8%), -75T>G (frequency: 59.3%). Haplotype analysis using the identified SNPs revealed fifteen haplotypes (> or =1% haplotype frequency) in our samples. The most frequent haplotype was Hap1 (frequency: 15.4%). Among the identified 41 SNPs, nine of which are novel variants and 14 SNPs were nonsynonymous variants. Using the functional predictive software PolyPhen-2, the G19V, E221G, and A270S variants were predicted to be most likely damaging to the function and structure of CES1. In-vitro analyses for two of these variants have been previously performed; however, functional evaluation of E221G (11657A>G, rs200707504) still needs to be conducted. Therefore, further studies are warranted to characterize the functional impact of E221G on CES1 activity.
Alleles ; Asian Continental Ancestry Group ; Carboxylesterase* ; Ethnic Groups ; Exons ; Genetic Variation ; Haplotypes ; Humans ; Polymorphism, Genetic* ; Polymorphism, Single Nucleotide ; Serine

The gene product of bcl-2 (B-cell leukemia/lymphoma-2) was suggested to suppress programmed cell death (apoptosis) of tumor cells and be involved in the development of multiple myeloma. However, the normal plasma cells also express the protein. It is unclear whether the expression of bcl-2 in multiple myeloma is of normal character or of regulatory adaptation in association with neoplastic transformation. p53 was also suggested to be involved in tumor progression since mutations on p53 were found in multiple myeloma. In order to find the relationship between the expression patterns of bcl-2 and p53 in tumor cells of multiple myeloma and non-neoplastic plasma cells, we examined 38 cases of multiple myeloma and 10 cases of nasal polyp immunohistochemically. Furthermore, expression of bcl-2 and p53, mitosis, clinical stage and infiltrative pattern of tumor cells in bone marrow were also evaluated in association with the survival of patients. By immunostaining with anti-bcl-2 and p53 monoclonal antibody, 37 out of 38 cases of multiple myeloma and all of 10 cases of nasal polyp were positive for bcl-2 but only 7 cases of multiple myeloma were positive for p53. Marked dysplasia, low percentage of bcl-2 expression, and increased mitoses were correlated with poor prognosis. Based on these observations, we suggest that bcl-2 and p53 are involved in tumorigenesis of multiple myeloma and the survival of patients would be influenced by dysplastic change, mitosis and degree of bcl-2 expression.
Bone Marrow ; Carcinogenesis ; Cell Death ; Humans ; Mitosis ; Multiple Myeloma* ; Nasal Polyps ; Plasma Cells* ; Plasma* ; Prognosis

Parkinson's disease is a common neurodegenerative disorder that is mainly caused by dopaminergic neuron loss in the substantia nigra. Several radiopharmaceutics have been developed to evaluate the integrity of dopaminergic neuronal system. In vivo PET and SPECT imaging of presynaptic dopamine imaing are already applied to Parkinson's disease and other parkinsonism, and can demonstrate the dopaminergic dysfunction. This review summarized the use of the presynaptic dopaminergic imaging in PD as biomarkers in evaluation of disease progression as well as in diagnosis of PD.
Biomarkers ; Diagnosis ; Disease Progression ; Dopamine ; Dopaminergic Neurons ; Movement Disorders* ; Neurodegenerative Diseases ; Parkinson Disease ; Parkinsonian Disorders ; Substantia Nigra ; Tomography, Emission-Computed, Single-Photon

Reconstruction of partial ear defects presents a unique and notable challenge to the dermatologist. This is due to the complex architecture of the external ear which is difficult to duplicate surgically. Several procedures are available for correction of defects to the external ear. However, the diversity of external ear shapes shows how difficult it is to achieve a certain solution to this problem. We report a case of auricular squamous cell carcinoma in which the skin defect is reconstructed by a staged supra-auricular interpolation pedicle flap.
Carcinoma, Squamous Cell ; Ear* ; Ear, External ; Skin

PURPOSE: Unlike males, inguinal hernia surgery in females is an uncommon surgical procedure. The efficacy of laparoscopic surgery for female hernia must be proven. This study compared the clinical characteristics of male and female hernia as well as the efficacy of laparoscopic surgery with that of open surgery in female hernia. METHODS: From March 2007 to February 2011, one surgeon (C.S.) at the authors' institution operated on 965 patients (male/female=884/81) who were each more than 19 years old. The female patients were divided into the laparoscopic (n=67, TEP/TAPP=66/1) and open surgery groups (n=14). RESULTS: The mean age of the female patients was lower than that of the male patients. The incidence of bilateral and direct hernia was higher in the male patients but the incidence of femoral hernia was higher in the female patients (0.6 vs. 8.6%, p<0.001). Among the 81 female patients, the mean age of the patients with femoral hernia was higher than that of the patients with other types of hernia (56.4+/-12.5/43.0+/-15.1, p<0.026). The operation times and pain scores of the two groups 7 days after surgery were comparable. CONCLUSION: The findings revealed a higher incidence of femoral hernia in the female patients than male patients. Patients with a femoral hernia were older than those with other types of hernia. Therefore, laparoscopic surgery must be considered for elderly female patients who have a high incidence of femoral hernia.
Aged ; Female ; Hernia ; Hernia, Femoral ; Hernia, Inguinal ; Humans ; Incidence ; Laparoscopy ; Male

PURPOSE: This study was aimed to compare the results of a transanal repair with those of a transvaginal levatorplasty and to determine the long-term clinical outcomes according to the change in the depth of the rectocele after the procedure. METHODS: Of 50 women who underwent a rectocele repair from March 2005 to February 2007, 26 women (group A) received a transanal repair, and 24 (group B) received a transvaginal repair with or without levatorplasty. At 12 months after the procedures, 45 (group A/B, 22/23 women) among the 50 women completed physiologic studies, including anal manometry and defecography, and clinical-outcome measurements. The variations of the clinical outcomes with changes in the depth of the rectocele were also evaluated in 42 women (group A/B, 20/22) at the median follow-up of 50 months. RESULTS: On the defecographic findings, the postoperative depth of the rectocele decreased significantly in both groups (group A vs. B, 1.91 +/- 0.20 vs. 2.25 +/- 0.46, P = 0.040). At 12 months after surgery, 17 women in each group (group A/B, 77/75%) reported improvement of their symptoms. However, only 11 and 13 women (group A/B, 55/59%) of groups A and B, respectively, maintained their improvement at the median follow-up of 50 months. Better results were reported in patients with a greater change in the depth of their rectocele (> or =4 cm) after the procedure (P = 0.001) CONCLUSION: In both procedures, clinical outcomes might become progressively worse as the length of the follow-up is increased.
Defecography ; Female ; Follow-Up Studies ; Humans ; Manometry ; Rectocele

Hairy cell leukemia is an uncommon lymphoreticular disorder which primarily involves bone marrow, spleen, and peripheral blood. Patients, mostly men, present with splenomegaly and pancytopenia usually. A 62-year-old man was admitted with an abdominnal mass which had grown slowly for 20 years. On physical examination, an enlarged spleen was palpated without tenderness. An abdominal CT scan showed a diffusely enlarged spleen, which measured 20 cm in greatest dimension. In the peripheral blood, many atypical lymphocytes with abundant, delicate, surface projections were noted. They had tartrate-resistant acid phosphatase(TRAP) activity. Thrombocytopenia (60,000/mm3) was observed in the complete blood counts, Other laboratory data were within normal limits. He underwent splenectomy. The submitted spleen measured 26x15x5 cm and weighed 2150 gm. It was well encapsulated and the outer surface was smooth. Cut surfaces were diffusely dark-red. White and red pulps were indistinct. There was no mass-like lesion. Microscopically, the spleen consisted of monotonous mononulcear cells which involved red pulp. The white pulp was diminished, and could be barely recognized. Cells had small round nuclei and abundant cytoplasm. Ultrastructurally, cells with numerous slender surface projections were noted. In Korea, hairy cell leukemia is exceedingly rare. We report a case of hairy cell leukemia with characteristic pathologic features of spleen as well as those of peripheral blood.
Male ; Humans