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Objective To study histological features, immunophenotype, genotype, diagnosis and differential diagnosis, treatment and prognosis of one case of mitochondrial encephalomyopathy with lactic acidemia and stroke-like episodes (MELAS), and to summarize the clinicopathological features and key points of diagnosis and differential diagnosis. Methods and Results A 55-year-old female presented language disorder with memory disorders for 2 months, and her head MRI showed space-occupying lesion of left temporal lobe. An exploratory craniotomy was performed. Histological morphology showed patchy grey and white matter structure, scattered hemorrhagic necrosis, small vascular hyperplasia, luminal hyperemia and vasodilatation, and scattered lymphocytic infiltration. By using immunohistochemical staining, the membrane of lymphocytes was focally positive for CD3 and CD20, and neurons were positive for neuronal nuclei (NeuN). Periodic acid-Schiff (PAS) staining was focally positive. In further muscle biopsy, modified Gomori trichrome (MGT) staining showed a lot of scattered ragged-red fibers (RRF), suggesting myopathologic change of mitochondrial encephalomyopathy. A m.3243A > G mutation (about 9%) was found in the direct sequencing genetic testing. The final diagnosis was MELAS. After operation, the patient received antiepileptic, hypoglycemic and neurotrophic treatment. Conclusions Adult-onset MELAS is a rare disease with various clinical manifestations. A definite diagnosis depends on clinical manifestations, histopathological characteristics, immunophenotype and genetic testing. [ABSTRACT FROM AUTHOR]

Objective To investigate the clinicopathological features of Li - Fraumeni syndrome (LFS) manifested as glioblastoma. Methods and Results A 33 - year - old female patient presented hyperspasmia of left extremities. Head MRI showed space - occupying lesion on the right fronto - parietal junction, and contrast - enhanced scanning revealed "garland" enhancement of the lesion. The patient underwent surgical resection. During the operation, an oval tumor was visible after the right parietal cortex was cut open for 2.50 cm, which was about 5 cm x 4 cm x 3 cm in size. The tumor was soft and purple, with clear boundary and rich blood supply, and was totally removed through piecemeal resection. Microscopic examination found obvious dysplasia of glial cells, spindle shape in some areas, and a large number of giant tumor cells. Immunohistochemical staining showed that the tumor cells expressed glial fibrillary acidic protein (GFAP) in cytoplasm and P53 protein in nuclei. Ki-67 labeling index was 25%. Reticular fiber staining was negative. Molecular pathological examination did not detect isocitrate dehydrogenase 1/2 (IDH 1/2) gene exon 4 mutation, telomerase reverse transcriptase (TERT) promoter mutation, or methylation of O6-methylguanine-DNA methyltransferase (MGMT). Fluorescence in situ hybridization (FISH) analysis did not reveal codeletion of 1p/19q. The integrated diagnosis was (right parietal) glioblastoma, IDH - wild type (WHO grade IV). The patient was hospitalized for 15 d and died in 2016. Previous family medical history showed her older sister suffered from right breast cancer, her father died of gastic cancer, her grandmother died of breast cancer, her uncles died of lung cancer and hematopoietic system tumor. Samples from the patient's glioblastoma and right mammary gland invasive duct carcinoma were collected for TP53 gene detection, but no mutation was found. Further, whole exome sequencing (WES) on the patient's freezing blood samples showed TP53 gene c.1009C > T (p.Arg337Cys) pathogenic heterozygous mutation (missense mutation). Combined with the family cancer history, a clinical diagnosis of the patient was Li-Fraumeni syndrome, and her family was Li-Fraumeni syndrome pedigree. Conclusions Li-Fraumeni syndrome is a hereditary tumor syndrome with autosomal dominant inheritance, characterized by high risk of breast cancer, bone and soft tissue sarcoma, brain tumor and adrenocortical cancer, and TP53 gene is the most common gene associated with Li-Fraumeni syndrome. [ABSTRACT FROM AUTHOR]

Objective To study clinicopathological features, diagnosis and differential diagnosis of atypical lung carcinoid metastasis to the pituitary gland based on clinical data of one patient. Methods and Results A 81- year - old female presented headache and sudden blindness, and head MRI showed that there was a lesion at the saddle area. The tumor was detected at intrasellar and in grayish red during surgery. The diameter of tumor was 2 cm. The tumor was soft with no envelop at and well-defined margins, and insufficiency in blood supply. The tumor was removed completely along its edge. Under optical microscopy, the tumor was consisted of small round cells of the same size. Tumor cells were distributed around blood vessels in a nest manner or diffuse manner with brisk mitotic activity and focal necrosis. By using immunohistochemical staining, the tumor cells were diffusely positive for synaptophysin (Syn), CD56 and thyoid transcription factor - 1 (TTF - 1), focal positive for cytokeratin (CK) and P53, and negative for growth hormone (GH), prolactin (PRL), adrenocorticotropic hormone (ACTH), follicle stimulating hormone (FSH), thyroid stimulating hormone (TSH), luteinizing hormone (LH), S -100 protein (S -100), thyreoglobulin (TG) and calcitonin. Ki - 67 labeling index was about 33%. Conclusions Pituitary metastasis is a rare tumor, and only a few cases of atypical lung carcinoid metastasis to the pituitary gland have been reported. Definite diagnosis could be made by history, typical histopathological characteristics and immunohistochemical expressions. [ABSTRACT FROM AUTHOR]

Objective To study clinicopathological features, diagnosis, differential diagnosis and prognosis of mixed adenoneuroendocrine carcinoma (MANEC). Methods One case of MANEC with brain metastasis was reported focusing on the following aspects: clinical manifestations, histopathological features and immunophenotypes, and the relevant literatures were reviewed. Results A 35-year-old male presented headache and vomiting, and his head CT scan showed a lesion located in the right temporal lobe. The tumor was detected after separating the cerebral cortex during the surgery. The tumor diameter was 3 cm. The tumor was soft and rubbery with ill - defined margins, and rich in blood supply. Under optical microscopy, the tumor was consisted of small round cells of the same size, with focal tumor cells arranged around blood vessels in a pseudorosette manner or papillary manner with brisk mitotic activity. The boundary between tumor and brain tissue was ill - defined. By using immunohistochemical staining, the tumor cells were diffusely positive for synaptophysin (Syn) and CD56, and negative for glial fibrillary acidic protein (GFAP), pan cytokeratin (PCK), CD3, CD20, vimentin (Vim), leukocyte common antigen (LCA), thyroid transcription factor-1 (TTF-1), S-100 protein (S-100), neurofilament (NF), nestin (Nes), CK5/6, CK8/ 18 and CD99. Ki - 67 labeling index was about 62% . Sigmoidoscopy was performed later in another hospital and showed a mass in the patient's colon. The colon tumor was biphasic in appearance, and was consisted of two distinct components: isomorphic small round cells and low - middle differentiated adenocarcinoma cells. The small round tumor cells were diffusely positive for Syn and CD56, and negative for PCK. The adenocarcinoma cells showed opposite results. Conclusions MANEC is a rare tumor, which is defined in 2010 by WHO Classification of Digestive, and to the best of our knowledge, MANEC of the colon with brain metastasis has never been described. Therefore, this paper reports the first case of MANEC of the colon with brain metastasis. Definite diagnosis could be made by medical history, typical histopathological characteristics and immunohistochemical expressions. [ABSTRACT FROM AUTHOR]

PURPOSE: To compare the clinical effects of miniscrews and conventional utility arch in the maxillary incisors intrusion. METHODS: Twenty adult patients with III degree deep bite were chosen and divided into two groups randomly. The cephalometfic films, intraoral periapical radiographies with metal guide bars, and periodontium parameters were taken before and after intrusion. The major measurement items included alteration of the maxillary first molar in vertical dimension, torque and length of maxillary central incisors, overbite, clinical crown of maxillary central incisors, probing depth (PD), gingival index (GI), plaque index (PI) and etc. PASW statistics 18.0 was used for statistical analysis. RESULTS: In the miniscrew group, there was no change of U1-SN, U6-PP distance, U6-SN (P>0.05), but significant reductions in overbite and U1-Stm distance (P<0.05). The probing depth (PD) increased (P<0.05), and the width of keratinized gingiva (WKG) decreased significantly (P<0.05). In the conventional utility arch group, significant differences were found in U1-SN, U6-SN, OP-SN, PLI2 (P<0.05). There was no difference in periodontal supporting tissue changes between the two groups(P>0.05). CONCLUSIONS: Compared with the conventional utility arch, minisrew has advantages on intruding upper incisors, and improving lip-tooth relationships. Less treatment period is needed in the minisrew group, and the impact on periodontal supporting tissue is similar. Supported by Science and Technology Development Plan of Shangdong Province(2010GWZ20255) and Special Project for Educational Science of Shandong Province (2050205). [ABSTRACT FROM AUTHOR]

PURPOSE: To establish a three dimensional finite element model of a maxillary impacted canine and its support tissues by means of finite element method (FEM) and spiral CT which can offer digital model for orthodontic traction. METHODS: A patient with a completely bony impacted maxillary canine was chosen. The CAD model of the canine and its surrounding tissues was established using spiral CT equipment, Mimics and Unigraphic. The CAD model was changed to FEM models by MSC. Mental which could cut nets in CAD models. RESULTS: With the use of spiral CT, Mimics, UG and MSC, FEM model of the maxillary impacted canine and its support tissues, and the whole maxilla was constructed and the model was of high geometrical similarity. CONCLUSION: The FEM model of maxillary impacted canine established by spiral CT, Mimics, UG and MSC has high accuracy, integrated constitution and optimized mesh which can be taken into account in the course of the treatment planning prior to starting therapy. Supported by Project of Shandong Provincial Science & Technology Development Plan(Grant No.2006GG2202031). [ABSTRACT FROM AUTHOR]

PURPOSE: To detect the changes of MMP-1 and MMP-9 in gingival crevicular fluid (GCF) of the rats in different age groups with orthodontic appliances. METHODS: 40 female Wistar rats were selected as the animal model, in which there were 20 6-week-old rats and 20 12-week-old rats. The orthodontic appliances were fixed onto the maxilla of the rats after general anesthesia. The maxillary first molar in the experimental side was drawn medially by applying an excess force of 50g, with both of the maxillary central incisors as anchorage, in the control side, the maxillary first molar was winded around the dental cervix with ligature wire. The GCF was collected every week. and MMP-1 and MMP-9 were assayed in quantitation by SDS-PAGE. Western blot and Gel Doc quantitative analysis system, respectively. The data were analyzed for ANOVA using SPSS11.0 software package. RESULTS: No statistical difference of the original concentration of MMP-1 and MMP-9 in GCF was found between adolescent group and adult group (P>0.05), but the adult group's contents were a little more than adolescent group's, and is the same as the 1st week's content. The concentration of MMPs in adult group changed more greatly than that in adolescent group. At the beginning of the experiment, the MMPs' increasing speed of adult group was higher than that of adolescent group. But at the end, the rate of descent of adult group was lower than that of adolescent group. CONCLUSIONS: The expression of MMPs in gingival crevicular fluid of adult rats is higher than that of adolescent rats. It may be more serious of the orthodontic root resorption in adult rats than in adolescent rats. [ABSTRACT FROM AUTHOR]

Purpose: To compare the clinical effects of miniscrews and conventional utility arch in the maxillary incisors intrusion., Methods: Twenty adult patients with III degree deep bite were chosen and divided into two groups randomly. The cephalometric films, intraoral periapical radiographies with metal guide bars, and periodontium parameters were taken before and after intrusion. The major measurement items included alteration of the maxillary first molar in vertical dimension, torque and length of maxillary central incisors, overbite, clinical crown of maxillary central incisors, probing depth (PD), gingival index (GI), plaque index (PI) and etc. PASW statistics 18.0 was used for statistical analysis., Results: In the miniscrew group, there was no change of U1-SN, U6-PP distance, U6-SN(P<0.05), but significant reductions in overbite and U1-Stm distance(P<0.05). The probing depth (PD) increased(P<0.05), and the width of keratinized gingiva(WKG) decreased significantly(P<0.05). In the conventional utility arch group, significant differences were found in U1-SN, U6-SN, OP-SN, PLI2(P<0.05). There was no difference in periodontal supporting tissue changes between the two groups(P>0.05)., Conclusions: Compared with the conventional utility arch, minisrew has advantages on intruding upper incisors, and improving lip-tooth relationships. Less treatment period is needed in the minisrew group, and the impact on periodontal supporting tissue is similar.

Objective: To investigate the relationship between chromosomal genomic DNA imbalance in medulloblastoma (MB), and the age and gender., Methods: The gains and losses of chromosomal genomic DNA in 16 MBs were analyzed using comparative genomic hybridization., Results: The gains and(or) losses were found in 15 of the 16 cases. There was not significant difference (P > 0.05) between the total gains (10/16) and losses (11/16). Both of their differences had also no significance between different age and gender groups (P > 0.05). In 15 cases with gains and(or) losses, single-, two-, three- and multi-chromosome genomic DNA imbalances were 3/15, 4/15, 1/15 and 7/15 respectively. Eleven gain zones (+5q, +6q, +7q, +11q, +15q, +17p, +17q, +19q, +20q, +21q, +Xp) and twenty-five loss zones (-1p, -1q, -2p, -2q, -3q, -4p, -6p, -6q, -8p, -8q, -10p, -10q, -11p, -14q, -16p, -16q, -17p, -18p, -18q, -19p, -19q, -20p, -20q, -Xp, -Xq) were detected in those tumors. +7q (6/16), +17q (6/16), -14q (5/16) and -10q (3/16) were the most frequent, but -14q only occurred in the cases of > 10-year-old., Conclusions: Most MBs have chromosomal genomic DNA imbalances. The frequent imbalance zones are mainly at the long arms of some chromosomes. +7q, +17q, -14q and -10q correlate closely to development of the tumors. -14q is important factor to result in MBs of > 10-year-old group. MB has possibly different molecular genetics subtype.

Purpose: To establish a three dimensional finite element model of a maxillary impacted canine and its support tissues by means of finite element method (FEM) and spiral CT which can offer digital model for orthodontic traction., Methods: A patient with a completely bony impacted maxillary canine was chosen. The CAD model of the canine and its surrounding tissues was established using spiral CT equipment, Mimics and Unigraphic. The CAD model was changed to FEM models by MSC. Mentat which could cut nets in CAD models., Results: With the use of spiral CT,Mimics,UG and MSC, FEM model of the maxillary impacted canine and its support tissues and the whole maxilla was constructed and the model was of high geometrical similarity., Conclusion: The FEM model of maxillary impacted canine established by spiral CT,Mimics,UG and MSC has high accuracy, integrated constitution and optimized mesh which can be taken into account in the course of the treatment planning prior to starting therapy.

Objective: To investigate genomic DNA imbalances in ependymomas (EDMs) and their correlations with the tumor histological types, grades, locations, patients' gender and age., Methods: Chromosomal gains and losses in 16 cases of EDM were analyzed using comparative genomic hybridization., Results: Chromosomal regional gain and loss were found in 15 and 13 of 16 EDM cases respectively including totally 24 regional gains and 19 regional losses in all the tumors studied. Both regional gains and losses were mostly seen in myxopapillary EDMs (MPE, WHO grade I), more commonly seen in cellular EDMs (CE, WHO grade II) and tanycytic EDMs (TE, WHO grade II) than in anaplastic EDMs (AE, WHO grade III). Some of the regional gains and losses appeared only in one subtype of MPE, CE, TE and AE cases resulting in development of specific imbalance profiles of certain subtype in these cases. MPE, CE and TE often had +7. Chromosomal +5 occurred only in MPE and CE, and -22q was only seen in CE and TE. AE frequently had +1q, but none had +5, +7, -4q, -19q and -22q. The frequencies of any regional gain or loss were not affected by patients' genders (P > 0.05). Chromosomal +1q and +7p happened predominantly in intracranial EDMs with an averagely onset age of

Purpose: To detect the changes of MMP-1 and MMP-9 in gingival crevicular fluid (GCF) of the rats in different age groups with orthodontic appliances., Methods: 40 female Wistar rats were selected as the animal model, in which there were 20 6-week-old rats and 20 12-week-old rats. The orthodontic appliances were fixed onto the maxilla of the rats after general anesthesia. The maxillary first molar in the experimental side was drawn medially by applying an excess force of 50 g, with both of the maxillary central incisors as anchorage. In the control side, the maxillary first molar was winded around the dental cervix with ligature wire. The GCF was collected every week, and MMP-1 and MMP-9 were assayed in quantitation by SDS-PAGE, Western blot and Gel Doc quantitative analysis system,respectively. The data were analyzed for ANOVA using SPSS11.0 software package., Results: No statistical difference of the original concentration of MMP-1 and MMP-9 in GCF was found between adolescent group and adult group (P>0.05), but the adult group's contents were a little more than adolescent group's, and is the same as the 1st week's content. The concentration of MMPs in adult group changed more greatly than that in adolescent group. At the beginning of the experiment, the MMPs' increasing speed of adult group was higher than that of adolescent group. But at the end, the rate of descent of adult group was lower than that of adolescent group., Conclusions: The expression of MMPs in gingival crevicular fluid of adult rats is higher than that of adolescent rats. It may be more serious of the orthodontic root resorption in adult rats than in adolescent rats. Supported by Shandong Provincial Natural Science Foundation (Grant No.Y2007C023) and Jinan Science and Technology Development Plan (Grant No.200705089-9).