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991.
Sei‐ichiro Motegi Yoko Yokoyama Akihiko Uchiyama Sachiko Ogino Yuko Takeuchi Kazuya Yamada Tomoyasu Hattori Hiroaki Hashizume Yuichi Ishikawa Makoto Goto Osamu Ishikawa 《The Journal of dermatology》2014,41(12):1047-1052
Atypical progeroid syndrome (APS), including atypical Werner syndrome (AWS), is a progeroid syndrome involving heterozygous mutations in the LMNA gene encoding the nuclear protein lamin A/C. We report the first Japanese case of APS/AWS with a LMNA mutation (p.D300N). A 53‐year‐old Japanese man had a history of recurrent severe cardiovascular diseases as well as brain infarction and hemorrhages. Although our APS/AWS patient had overlapping features with Werner syndrome (WS), such as high‐pitched voice, scleroderma, lipoatrophy and atherosclerosis, several cardinal features of WS, including short stature, premature graying/alopecia, cataract, bird‐like face, flat feet, hyperkeratosis on the soles and diabetes mellitus, were absent. In immunofluorescence staining and electron microscopic analyses of the patient's cultured fibroblasts, abnormal nuclear morphology, an increase in small aggregation of heterochromatin and a decrease in interchromatin granules in nuclei of fibroblasts were observed, suggesting that abnormal nuclear morphology and chromatin disorganization may be associated with the pathogenesis of APS/AWS. 相似文献
992.
Ingrid J. Bettum Kotryna Vasiliauskaite Vigdis Nygaard Trevor Clancy Solveig J. Pettersen Ellen Tenstad Gunhild M. Mælandsmo Lina Prasmickaite 《Cancer letters》2014
Tumor cells have the ability to exploit stromal cells to facilitate metastasis. By using malignant melanoma as a model, we show that the stroma adjacent to metastatic lesions is enriched in the known metastasis-promoting protein S100A4. S100A4 stimulates cancer cells to secrete paracrine factors, such as inflammatory cytokines IL8, CCL2 and SAA, which activate stromal cells (endothelial cells and monocytes) so that they acquire tumor-supportive properties. Our data establishes S100A4 as an inducer of a cytokine network enabling tumor cells to engage angiogenic and inflammatory stromal cells, which might contribute to pro-metastatic activity of S100A4. 相似文献
993.
994.
E García‐Molina J Lacunza F Ruiz‐Espejo M Sabater A García‐Alberola JR Gimeno F Caizares A García P Martínez M Valds I Tovar 《Clinical genetics》2013,83(6):530-538
We aim to study the SCN5A gene in a cohort of Brugada syndrome (BS) patients and evaluate the genotype–phenotype correlation. BS is caused by mutations in up to 10 different genes, SCN5A being the most frequently involved. Large genomic rearrangements in SCN5A have been associated with conduction disease, but its prevalence in BS is unknown. Seventy‐six non‐related patients with BS were studied. Clinical characteristics and family risk profile were recorded. Direct sequencing and multiplex ligation‐dependent probe amplification (MLPA) of the SCN5A gene for identification of mutations and larger rearrangements were performed, respectively. Eight patients (10.5%) had point mutations (R27H, E901K, G1743R (detected in three families), V728I, N1443S and E1152X). Patients with mutations had a trend toward a higher proportion of spontaneous type I Brugada electrocardiogram (ECG) (87.5% vs 52.9%, p = 0.06) and had evidence of familial disease (62.5%, vs 23.5%, p = 0.03). The symptoms and risk profile of the carriers were not different from wild‐type probands. There were non‐significant differences in the prevalence of type I ECG, syncope and history of arrhythmia in carriers of selected polymorphisms. None of the patients had any deletion/duplication in the SCN5A gene. In conclusion, 10.5% of our patients had mutations in the SCN5A gene. Patients with mutations seemed to have more spontaneous type I ECG, but no differences in syncope or arrhythmic events compared with patients without mutations. Larger studies are needed to evaluate the role of polymorphisms in the SCN5A in the expression of the phenotype and prognosis. Large rearrangements were not identified in the SCN5A gene using the MLPA technique. 相似文献
995.
Vachara Niumsawatt David Mao Stephen Salerno Warren M. Rozen 《International surgery》2013,98(4):437-444
The first annular (A1) pulley is an important structure of the hand, providing a biomechanical support to the metacarpophalangeal joint and maintaining joint stability and flexor tendon alignment. Albeit uncommon, disruption of this pulley can result in dislocation or ulnar drift of the digit, particularly pronounced in patients with rheumatoid arthritis. Despite this, the A1 pulley is commonly divided without reconstruction in trigger finger. Several annular pulley reconstructive techniques have been developed to preserve its function. However, development of recurrent triggering has been observed due to fibrosis, largely due to inadequate release of the pulley. We have developed a technique to increase the volume within the flexor sheath while preserving the A1 pulley by way of stepwise lengthening. This has enabled an increase in the diameter of the pulley to 4 times its original size. A prospective study was performed comprising 10 trigger finger releases with stepwise lengthening of the A1 pulley. In all patients, there were no complications, and good hand function was achieved with no recurrence of triggering at 6 weeks of follow-up. This technique can thus safely achieve trigger release without sacrifice of the function of the A1 pulley. 相似文献
996.
997.
Asuka Watanabe Misa Togi Terutsugu Koya Makoto Taniguchi Takuya Sakamoto Kuniyoshi Iwabuchi Tomohisa Kato Jr. Shigetaka Shimodaira 《Genes to cells : devoted to molecular & cellular mechanisms》2021,26(5):313-327
As the sentinels of innate and adaptive immune system, dendritic cells (DCs) have been considered to hold a great promise for medical application. Among the diverse types of DCs, monocyte-derived DCs (mo-DCs) generated in vitro have been most commonly employed. We have been improving the culture protocol and devised a protocol to produce mature interferon-α-induced DCs (IFN-DCs), hereinafter called (mat)IFN-DCs. While exploring the relationship between the expression of CD56 and the cytotoxic activity of (mat)IFN-DCs, we unexpectedly found that sorting of (mat)IFN-DCs with CD56 antibody-coated microbeads (MB) resulted in fractionating cells with tumoricidal activity into the flow-through (FT) but not MB-bound fraction. We uncovered that the FT fraction contains cells expressing low but substantial level of CD56. Moreover, those cells express granzyme B (GrB), perforin (PFN), and serpin B9 at high levels. By employing a specific inhibitor of PFN, we confirmed that direct tumoricidal activity relies on the GrB/PFN pathway. We designated subpopulation in FT fraction as CD56dim and that in CD56 positively sorted fraction as CD56bright, respectively. This is the first time, to our knowledge, to identify subpopulations of CD56-positive IFN-DCs with distinct tumoricidal activity which is ascribed to high expression of the components of GrB/PFN pathway. 相似文献
998.
《Journal of chemotherapy (Florence, Italy)》2013,25(3):238-240
AbstractTwo seriously neutropenic patients (a 23-year-old man with a promyelocytic acute myeloid leukemia [AML-M3] and a 77-year old male with an immature acute myeloid leukemia [AML-M1] diagnosis) with severe infections caused by Stenotrophomonas maltophilia were treated with aztreonam/clavulanic acid (2:1) combination. In the first patient the infection was caused by a multiresistant strain and in the second, by a strain with poor response to trimethoprim-sulfamethoxazole and other antimicrobial agents. After treatment with aztreonam/clavulanic acid both patients evolved favorably. 相似文献
999.
Muhammad Jamal PhD 《Behavioral medicine (Washington, D.C.)》2013,39(2):60-68
Abstract This study examined Type A and Type B differences in job performance, psychosomatic complaints, and career progression among white-collar employees (N = 218) in a field setting. Significant differences were found between Type A's and Type B's in quality of performance, effort exerted at the job, and psychosomatic complaints. Employees' cultural background and sex moderated some of the relationships observed in the study. Implications of the findings for future research on the topic are discussed. 相似文献
1000.
《International journal of audiology》2013,52(11):794-799
AbstractObjective: To establish reference hearing threshold levels for chirps and frequency-specific chirps. Design: Hearing thresholds were determined monaurally for broad-band chirps and octave-band chirps using the Etymotic Research, ER-3A insert earphone. The chirps were presented using two repetition rates, 20 and 90 stimuli/s, and with alternating polarity in blocks of one second duration. The test procedure and test conditions were in accordance with the recommendations given in . The ascending method () was applied using a step size of 5 dB. The chirps were played back from a Tucker Davies Technologies System II, and a Matlab program controlled the test setup. The results are specified in dB peak-to-peak equivalent threshold sound pressure levels (dB peETSPL). Study sample: The test group consisted of 25 otologically-normal young adults (age 18–25 years). Results: The results are in good agreement with the results from another investigation of hearing thresholds using the same chirp stimuli, and the values for the octave-band chirps are in line with the standardized reference values for corresponding tone bursts (). Conclusions: The results of the present investigation are relevant for the international standard on short duration signals, . 相似文献