No abstract available.
Spinal Muscular Atrophies of Childhood*

Fine needle aspiration cytology of three cases of pulmonary hamartoma is presented. Case 1 was in a 67-year-old man with a 7 cm-sized left lung mass. Case 2 and 3 were in 47 and 53 year old females and consisted of 3 cm and 2 cm-sized right lung nodules, respectively. Fine needle aspiration of the masses revealed several fragments of irregularly shaped mature hyaline cartilage or fibromyxoid mesenchyme and sheets of benign epithelial cells in scanty to acellular background. Also scattered were inflammatory cells including lymphocytes, neutrophils and histiocytes and mature fat cells. These features were diagnostic for pulmonary hamartoma and case 1 was histologically confirmed by following surgical excision of the mass. Differential diagnoses about pulmonary hamartoma in the respect of conditions capable of producing cartilage on fine needle aspiration, were discussed.
Female ; Male ; Humans ; Diagnosis, Differential ; Hamartoma

Lipocortin represents a family of similar Ca++ depentent phospholipid-binding proteins capable of blocking the activity of phospholipase A2 (PLA2) in vitro. Generally, these proteins are believed to inhibit the release of arachidonic acid from photopholipids and the formation of lipid mediators such as prostaglandin, leukotriene, and platelet activating factor. Lipocortin 1, initially identified as a glucocorticoid- responsive protein in macrophages and neutrophils has been implicated in transmembrane signal transduction during growth factor-mediated cell proliferation and transformation. To define the synthesis and its regulation, we investigated the expression of lipocortin 1 in both the mRNA and protein level in U937 cell line in the presence of several differentiation factors. The results were as follows. 1. The expression of lipocortin 1 and its mRNA was increased during TPA-induced differentiation of U937 cells to maximum of 2-fold and 5-fold respectively. Both the protein and mRNA levels decreased after 48 hours. 2. With the treatment with IFN-gamma, the expression of CD16 was increased. However, the protein and mRNA levels of lipocortin 1 were, not changed significantly. 3. Neither the dexamethasone or hydrocortisone have any effects on the expression of lipocortin 1 in both TPA-differentiated and undifferentiated U937 cells. The results from this study would give a light on defining the functional role of lipocortin 1 in macro-moncycle cell lineage and possibly some informative clues for the pathogenic mechanisms of the inflammatory diseases.
Annexin A1* ; Annexins* ; Arachidonic Acid ; Cell Lineage ; Cell Proliferation ; Dexamethasone ; Humans ; Hydrocortisone ; Macrophages ; Neutrophils ; Phospholipases A2 ; Platelet Activating Factor ; RNA, Messenger ; Signal Transduction ; U937 Cells*

BACKGROUND: Microdeletion syndromes not detectable by conventional cytogenetic analysis have been reported to occur in approximately 5% of patients with unexplained mental retardation (MR). Therefore, it is essential to ensure that patients with MR are screened for these microdeletion syndromes. Mental retardation syndrome multiplex ligation-dependent probe amplification (MRS-MLPA) is a new technique for measuring sequence dosages that allows for the detection of copy number changes of several microdeletion syndromes (1p36 deletion syndrome, Williams syndrome, Smith-Magenis syndrome, Miller-Dieker syndrome, DiGeorge syndrome, Prader-Willi/Angelman syndrome, Alagille syndrome, Saethre-Chotzen syndrome, and Sotos syndrome) to be processed simultaneously, thus significantly reducing the amount of laboratory work. METHODS: We assessed the performance of MLPA (MRC-Holland, The Netherlands) for the detection of microdeletion syndromes by comparing the results with those generated using FISH assays. MLPA analysis was carried out on 12 patients with microdeletion confirmed by FISH (three DiGeorge syndrome, four Williams syndrome, four Prader-Willi syndrome, and one Miller-Dieker syndrome). RESULTS: The results of MLPA analysis showed a complete concordance with FISH in 12 patients with microdeletion syndromes. CONCLUSIONS: On the basis of these results, we conclude that MLPA is an accurate, reliable, and cost-effective alternative to FISH in the screening for microdeletion syndromes.
*Chromosome Deletion ; Classical Lissencephalies and Subcortical Band Heterotopias/genetics ; DiGeorge Syndrome/genetics ; Humans ; In Situ Hybridization, Fluorescence/*methods ; Laboratories, Hospital ; Mental Retardation/*diagnosis/genetics ; Nucleic Acid Amplification Techniques/*methods ; Prader-Willi Syndrome/genetics ; Williams Syndrome/genetics

Adenosquamous carcinoma originating in the stomach is relatively rare, and the occurrence of such tumor is interesting with respect to its histogenesis. We describe three cases of gastric adenosquamous carcinoma in a 39-year-old man, a 58-year-old woman and a 52-year-old man. They were grossly classified as Borrmann type III or II, revealing no difference from usual advanced gastric adenocarcinomas. Microscopically three cases showed well or moderately differentiated squamous cell carcinoma component occupying large areas of the tumors. Areas of transition from glandular to squamous epithelium were frequently observed. Metastatic foci in the regional lymph nodes also were consisted of two elements. On immunohistochemical study, CEA immunoreactivity was found not only in adenocarcinoma component but also in squamous cell components, in comparison to cytokeratin which was detected only in squamous areas. The immunohistochemical findings of CEA reactivity in both components, and the presence of microscopic transitional zones support the hypothesis of squamous metaplasia occurring in an already existing adenocarcinoma in the development of adenosquamous carcinoma of the stomach.
Female ; Male ; Humans ; Adenocarcinoma ; Neoplasm Metastasis

Therapeutic irradiation may produce a variety of adverse side effects on the central and the peripheral nervous systems. These adverse effects are divided into two main groups; transient and permanent. Four major clinical syndromes have been described in relation to permanent radiation injury of the nervous system: encephalopathy, cranial neuropathy, myelopathy, and peripheral neuropathy. Among them, delayed encephalopathy represents the major hazard in CNS irradiation. The characteristic MR imaging pattern of radiation induced delayed necrotizing leukoencephalopathy is symmetric, high-signal foci on T2WI in the periventricular white matter. We report a case of suspected post-irradiation leukoencephalopathy showed progressive mental change, quadriparesis, and urinary incontinence with characteristic MR findings who had taken therapeutic irradiation 12 months ago.
Cranial Nerve Diseases ; Leukoencephalopathies* ; Magnetic Resonance Imaging ; Nervous System ; Peripheral Nervous System ; Peripheral Nervous System Diseases ; Quadriplegia ; Radiation Injuries ; Spinal Cord Diseases ; Urinary Incontinence

A case of malignant mixed mesodermal tumor (MMMT) developed after radiation therapy for a uterine cervix cancer is described. The patient was a 62-year-old female at the time of diagnosis of stage Ib squamous cell carcinoma of the cervix and a total of 12,000 rads of x-ray was administered on the pelvic area. Five years later she manifested vaginal spotting and rectal pain. Endometial curettage and biopsy revealed carcinosarcoma. Radical hysterectomy was done and a 5x3x2 cm sized polypoid mass was noted in the uterine cavity. Microscopically, the tumor showed intimate admixture of adenocarcinomatous and sarcomatous areas. The sarcomatous stroma was composed of compactly arranged atypical spindle cells with frequent mitoses, merging into a loosely textured reticular areas and abundant amount of heterologous elements such as skeletal muscle and cartilage. The rhabdomyosarcomatous element was confirmed by PTAH staining and immunohistochemical staining for myoglobin and desmin. Multiple metastases to the liver, lung, and lymph nodes appeared within one year of total abdominal hysterectomy and bilateral salpingo-oophorectomy. In spite of palliative radiotherapy, she expired one month later.
Female ; Humans ; Biopsy ; Neoplasm Metastasis

Cervical adenocarcinoma represents approximately 3-6% of the uterine cervical neoplasms. Recently, its relative incidence tends to be increased in contrast to squamous cell carcinoma. Sixty nine cases from 1985 to 1990 diagonsed as adenocarcinoma of the cervix by radical or total hysterectomy were analyzed to know their histopathological characteristics and related prognostic factors. The results wer as follows. (1) The age distribution ranged from 24 to 60 years and the mean age was 44 years and 47 years in adenocarcinoma in situ and invasive adenocarcinoma, respectively. Staging by FIGO classification showed the range from stage 0 to IIb, of which 63.8% was stage Ib. (2) Cases were composed of 7 cases of adenocarcinoma in situ(10%) and 62 cases of invasive adenocarcinomas(90%). The latter included 16 cases of adenosquamous carcinoma and 46 cases of pure adenocarcinoma which showed endocervical, endometrioid, clear cell, minimal deviation adenocarcinoma subtypes. The most frequent subtype was endocervical adenocarcinoma(51%) and the endometrioid subtype showed slightly higher incidence rate(13%) in comparison to the previous studies. (3) Coexistent squamous lesions ranging from mild dysplasia to invasive carcinoma were found in 4 out of 7 cases(57%) of adenocarcinoma in situ and 18 out of 62 cases(29%) of invasive adenocarcinoma. Severe dysplasia and carcinoma in situ comprised most(77%) of them. (4) Analyses of histopathological and clinical characteristics of adenocarcinoma of the uterine cervix revealed positive correlations between tumor size or mucin leakage and depth of invasion. The prognostic factors in relation to lymph node metastasis were considered to be th stage of disease, the size of tumor, mucin leakage in the stroma, and histologic subtypes.
Incidence ; Adenocarcinoma ; Neoplasm Metastasis

The purpose of this study was to investigate effects of nutrition education program and pamphlet for the lower grades elementary students focused on individual daily needed food exchange units using Food Exchange System. Program consisted of four lessons (40 min/lesson), "5 major nutrients & function", "6 food group and sources", "daily needed food exchange units for normal body weight", and "smart snack choice and exercise". Pamphlet as activity book was developed for the program. The subjects were 3rd grade elementary students (educated group, 31 vs. non-educated group, 31). Educated group were lessoned as group and/or individual. We examined the differences in nutrition knowledge, dietary attitudes, dietary intakes and satisfaction of the program and pamphlet. In educated group, there were positive improvements on nutrition knowledge score "function and foods of 5 nutrients" and on dietary attitudes "type of breakfast and snacks". In the evaluation of dietary intakes according to KDRI, there were positive improvements on intakes level of riboflavin, vit. C, folate, Ca, P, Fe and Zn in educated group. In satisfaction with the program and pamphlet, contents, font size, visual, figure, difficulty and program curriculum were over 2.90/3.0. It showed that the developed nutrition education program and pamphlet focused on individual daily needed food exchange units using Food Exchange System improved nutrition knowledge, dietary attitudes and nutrients intake level in the lower grades elementary students.
Breakfast ; Curriculum ; Folic Acid ; Humans ; Pamphlets ; Riboflavin ; Snacks

No abstract available.
Mitral Valve*