No abstract available.
Chediak-Higashi Syndrome*

Pseudolipomatosis of the colonic mucosa has been recognized as a lesion featured with aggregations of gaseous spaces in the lamina propria, but its pathogenesis remains still unclear. This paper describes 6 cases of pseudolipomatosis occurring in the mucosa of stomach and large intestine, and the possible factors involved in gastrointestinal endoscopic procedure to produce gaseous entrapment in the lamina propria were analysed. All cases received either gastroscopy or colonoscpy before endoscopic biopsy. Mucosal tissues from both stomach and recto-sigmoid colon revealed multiple aggregations of small air-spaces resembling fatty infiltration in the lamina propria. Rarely were similar infiltrations within the muscularis mucosae and adjacent lymphoid follicles. Evidence for pneumatosis cystoides intestinalis or ulcerative colonic lesion was not associated, although one showed a small gastric ulcer nearby. Repeated inflations and deflations of the stomach or colon during the endoscopic procedure with miner mechanical trauma by instrument to the mucosa seem to contribute to its pathogenesis.

We retrospectively reviewed magnetic resonance image findings of primary CNS lymphomas in six patients. All patients showed parenchymal masses (n=8), a solitary mass in 4 and multiple in the other two. One patients showed leptomeningeal lesion. Parenchymal masses were located in forntal lobe (n=4), cerebellum (n=2), basal ganglia (n=1), and parietal lobe (n=1), These masses showed hypointensity on T1-weighted images (WI). On T2 WI, the signal intensity of mass was isointense to the brain parenchyma in 5 and hyperintese in 3. After Gadlinium-DTPA injection, seven lesions were enhanced homogeneously, and the margin of the mass was smooth in 5 and irregular in 3. Peritumoral edema was moderate in 4, absent in 3, and severi in 1. These characteristics may be useful in the diagnosis of primary CNS lymphoma.
Basal Ganglia ; Brain ; Cerebellum ; Diagnosis ; Edema ; Humans ; Lymphoma* ; Magnetic Resonance Imaging* ; Parietal Lobe ; Retrospective Studies

Stickler syndrome is an autosomal dominant disorder of connective tissue with a wide range of expressivity and incomplete penetrance which is called hereditary progressive arthro-ophthalmopathy. Affected neohates may present with the Pierre-Robin syndrome, progressive myopia, retinal detachment, flat face, hypertelorism, progressive arthritis. Early recognition of the syndrome is important, not only for genetic counselling but also to offer a more precise prognosis and proper treatment of many serious disorders that may occur in affected children. We experienced a case of Stickler syndrome with large eyeballs in a 3-day-old female baby who showed Pierre-Robin anomaly, flat face, hypertelorism, epicanthal folds, long philtrum, micrognathia, deft palate, high congenital myopia, chorioretinal degeneration, thin habitus and hyperextensible joints.
Arthritis ; Child ; Connective Tissue ; Female ; Humans ; Hypertelorism ; Joints ; Lip ; Myopia ; Myopia, Degenerative ; Palate ; Penetrance ; Pierre Robin Syndrome ; Prognosis ; Retinal Detachment

The proliferative activity of gastric adenomas from 18 patients (42 endoscopic procedures) was compared with follow-up results. These cases were gastric adenomas proven by follow-up with repeated endoscopic procedures for more than 2 years, or were confirmed as gastric adenocarcinoma thereafter by histopathologic examination. Among the eighteen cases, nine showed carcinoma in the subsequent biopsies (group 1) and the remaining nine did not result in carcinoma (group 2). The proliferating cell nuclear antigen (PCNA) positivity rates of the two groups were significantly different (P < 0.01). The average PCNA positivity in group 1 was 33.1%, while it was 10.0% in group 2. The risk of developing carcinoma increased as the PCNA positivity increased: 0% in the low PCNA positivity group, 41% in the mid-positivity group and 89% in the high positivity group. We concluded that growth fraction could be taken into account as one of the most important prognostic factors for gastric adenoma, and accordingly repeated endoscopic biopsies with close follow-up should be carried out especially in the high PCNA positivity group.
Adenoma/*immunology ; Antigens, Neoplasm/immunology/*metabolism ; Carcinoembryonic Antigen/metabolism ; Cell Cycle ; Follow-Up Studies ; Gastroscopy ; Humans ; Nuclear Proteins/*metabolism ; Prognosis ; Proliferating Cell Nuclear Antigen ; Stomach Neoplasms/*immunology

As a result of surgical orthodontic treatment of mandibular prognathism, changes take place in the skeletal and soft orofacial components. Although some investigators had stated that permanent reduction of airway space was observed agter mandibular setback surgery, it was not clear thath this permanent reduction was sustained during long-term follow-up. The purpose of this study was to assess the changes in oropharyngeal airway space and soft tissue orofacial compoment following the mandibular setback surgery and during the follow-up period. The correlation between the changes of the oropharyngeal airway space and the changes of other soft tissue orofacial component was also assessed. The findings of this study were as follows ; 1. The ofoharyngeal airway space area fecreased following mandibular setback surgery for mandibular prognathism and continued to decrease during the follow-up period(p<0.05). 2. The pharyngeal depth at Xi point level and the 2nd cervical vertebra point level decreased agter the surgery and remained during the follow-up period(p<0.05). The decrease of these pharyngeal depth was correlated with the decrease of oropharyngeal airway space area(p<0.01). 3. The decrease of pharyngeal depth at the 3rd and 4th cervical vertebra point level was not significant after the surgery and during the follow-up period. 4. The hyoid bone moved downwasd after the surgery(p<0.05), but returned to its original position during the follow-up period. 5. The length & height of tongue and the position of epiglottis base did not change significantly(p<0.05). 6. The soft palate was displaced posteriorly after the surgery and remained to its changed position during the follow-up period(p<0.05) due to posterior displacement of tongue. The changes of soft palate were significantly correlated with the decrease of oropharyngeal airway space area(p<0.01). 7. The narrowing of oropharyngeal airway space was due to the posterior displacement of tongue above the level of epiglottis tip. The posterior displacement of tongue following mandibiular setback osteotomy remained during the follow-up period.
Epiglottis ; Follow-Up Studies ; Humans ; Hyoid Bone ; Oropharynx ; Osteotomy* ; Palate, Soft ; Prognathism ; Research Personnel ; Spine ; Tongue

BACKGROUND/AIMS: The aims of this study are to clarify the morphology of fundic gland polyp (FGP) and to compare the features of FGP between familial adenomatous polyposis-associated group and sporadic development group. METHODS: A total of 15 endo- scopic biopsy specimens of FGP from 13 patients were divided into three groups; Group A(3 cases; familial adenomatous polyposis family, multiple FGPs), Group B(3 cases; sporadic development, multiple FGPs) and Group C(7 cases; sporadic development, single FGP), and their endoseopic /microscopic features including mucin histochemistry and immunohistoc- hemistty(for PCNA) were compared. RESULTS: FGPs were confined to the gastric body and fundus in all 3 groups, and measured 2-8 mm. Their numbers varied even in Group A and Group B, The difference was observed in their median age: 26 years in Group A and 55 years in Group B, respectively, but there were no differences in endoscopic, histologic, mucin histochemical and immunohistochemical(for PCNA) features. Micro-scopically, all FGPs were composed of fundic glands and scattered microcysts with a spectrum of disordered glandular architecture which ranged from convoluted gland to Y-shaped gland, to stellateshaped gland, and to irregular tortuous glancl with dilated lumen. CONCLUSIONS: We assume that diversity af morphologic features of FGP may develop from progression of hyperplastic/hamartomatous fundic glandular proliferation which may end up with microcyst formation as an evolutional change. Familial adenomatous polyosis-associated FGPs were not endoscopically and histologically distingishable from sporadic deveoped FGPs.
Adenomatous Polyposis Coli* ; Biopsy ; Esophagus* ; Humans ; Intestines* ; Mucins ; Polyps* ; Stomach*

We experienced a case of spondylothoracic dysplasia in a 1 day old male who has short neck with limitation of movement, asymmetric thorax, marked scoliosis and a systolic heart murmur. He was born with normal weight and full term. The history of his family and mother is not specific. On x-ray, multiple hemivertebrae in thorax, spina bifida and maldevelopmental thoacic cavity were detected. On echocardiogram, he had small ASD and PDA.
Heart Defects, Congenital* ; Heart Murmurs ; Humans ; Male ; Mothers ; Neck ; Scoliosis ; Spinal Dysraphism ; Thorax

Adipocyte differentiation is a very complex process in which whole-cell changes are accompanied. Among them, type I procollagen gene has been shown to specifically decrease during adipocyte differentiation; however, little is known about the molecular mechanism. To examine how type I procollagen gene expression is regulated at the level of transcription during adipocyte differentiation, 3T3-L1 preadipocyte cell line was used as an in vitro model. Northern blot analysis demonstrated that mRNA expression of type I procollagen gene was dramatically reduced during adipocyte differentiation. Time-course analysis indicated that decrease in mRNA expression occurred at early stage of differentiation. Studies on several stable cell lines showed that transcriptional activities of both alpha1 and alpha2 promoters decreased significantly during adipocyte differentiation. Despite extensive deletion-promoter analyses, however, we could not identify the cis-element responsible for the switch-off of type I procollagen gene during adipocyte differentiation, suggesting that the transcriptional repression of this gene occur through general transcription machinery rather than a specific cis-element. In conclusion, down-regulation of type I procollagen mRNA expression during adipocyte differentiation is due to repression of its promoter activity through general transcription machinery.
3T3 Cells ; Adipocytes/cytology/*metabolism ; Animal ; Cell Differentiation/*genetics ; Cell Line ; Collagen Type I/*genetics/metabolism ; Down-Regulation/genetics ; Gene Expression Regulation ; Genes, Reporter ; Kinetics ; Mice ; Mutation ; Procollagen/*genetics/metabolism ; Promoter Regions (Genetics) ; RNA, Messenger/metabolism ; Repressor Proteins/genetics/metabolism ; Transcription, Genetic

Adipocyte differentiation is a very complex process in which whole-cell changes are accompanied. Among them, type I procollagen gene has been shown to specifically decrease during adipocyte differentiation; however, little is known about the molecular mechanism. To examine how type I procollagen gene expression is regulated at the level of transcription during adipocyte differentiation, 3T3-L1 preadipocyte cell line was used as an in vitro model. Northern blot analysis demonstrated that mRNA expression of type I procollagen gene was dramatically reduced during adipocyte differentiation. Time-course analysis indicated that decrease in mRNA expression occurred at early stage of differentiation. Studies on several stable cell lines showed that transcriptional activities of both alpha1 and alpha2 promoters decreased significantly during adipocyte differentiation. Despite extensive deletion-promoter analyses, however, we could not identify the cis-element responsible for the switch-off of type I procollagen gene during adipocyte differentiation, suggesting that the transcriptional repression of this gene occur through general transcription machinery rather than a specific cis-element. In conclusion, down-regulation of type I procollagen mRNA expression during adipocyte differentiation is due to repression of its promoter activity through general transcription machinery.
3T3 Cells ; Adipocytes/cytology/*metabolism ; Animal ; Cell Differentiation/*genetics ; Cell Line ; Collagen Type I/*genetics/metabolism ; Down-Regulation/genetics ; Gene Expression Regulation ; Genes, Reporter ; Kinetics ; Mice ; Mutation ; Procollagen/*genetics/metabolism ; Promoter Regions (Genetics) ; RNA, Messenger/metabolism ; Repressor Proteins/genetics/metabolism ; Transcription, Genetic