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Ying Qiao Hani Bagheri Flamingo Tang Chansonette Badduke Sally Martell Suzanne M.E. Lewis Wendy Robinson Mary B. Connolly Laura Arbour Evica Rajcan-Separovic 《European journal of medical genetics》2019,62(2):103-108
The clinical significance of Xp22.31 microduplication is controversial as it is reported in subjects with developmental delay (DD), their unaffected relatives and unrelated controls. We performed multifaceted studies in a family of a boy with hypotonia, dysmorphic features and DD who carried a 600?Kb Xp22.31 microduplication (7515787-8123310bp, hg19) containing two genes, VCX and PNPLA4. The duplication was transmitted from his cognitively normal maternal grandfather.We found no evidence of the duplication causing the proband's DD and congenital anomalies based on unaltered expression of PNPLA4 in the proband and his mother in comparison to controls and preferential activation of the paternal chromosome X with Xp22.31 duplication in proband's mother. However, a de novo, previously reported deleterious, missense mutation in Pur-alpha gene (PURA) (5q31.2), with a role in neuronal differentiation was detected in the proband by exome sequencing.We propose that the variability in the phenotype in carriers of Xp22.31 microduplication can be due to a second and more deleterious genetic mutation in more severely affected carriers. Widespread use of whole genome next generation sequencing in families with Xp22.31 CNV could help identify such cases. 相似文献
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Marilena Vered Anna Shnaiderman-Shapiro Ayelet Zlotogorski-Hurvitz Tuula Salo Ran Yahalom 《Acta histochemica》2019,121(8):151446
ObjectivesTo examine different immunophenotypes of cancer-associated fibroblasts (CAFs) in tongue squamous cell carcinoma (TSCC) and to investigate how they related to clinical outcomes.MethodsSerial sections from 54 cases of TSCC were immunohistochemically stained with α-smooth muscle actin (αSMA, CAF marker) to determine CAF density, and double-immunostained with αSMA combined with CD80 and CD86 (myeloid/monocytic-derived cell markers), Nanog (mesenchymal stem cell marker) and CD133 (hematopoietic/endothelial stem cell marker). Density of cells co-expressing these marker combinations was semi-quantitatively assessed in 5 randomly selected high power fields within the tumor area and scored as 1 – one-to-five stained cells in each field, 2 – more than 5 stained cells in each field; any finding less than score 1, was allocated a score of 0.ResultsThere were 26 CAF-poor, 16 CAF-rich and 12 CAF-intermediated cases. CD86+αSMA+ cells were the most frequent (80.4%) followed by CD80+αSMA+ (72%) and Nanog+αSMA+ cells (56%). The CD133+αSMA+ phenotype was found only in association with blood vessels. High density of αSMA+ CAFs was associated with disease recurrence and poor survival (p < 0.05). Increased density of CD86+αSMA+ cells was significantly associated with CAF-rich tumors and with poor survival (p < 0.05).ConclusionIn TSCC, CAFs demonstrate heterogeneous and overlapping phenotypes with the myeloid/monocytic type being the most frequent and having an impact on the clinical outcomes. Further studies are needed in order to further characterize CAF phenotypes in carcinomas of various oral sites, as this may open new frontiers for personalized medicine. 相似文献
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AimTo investigate clinico-pathological features of lymphoma of the lips, and review the literature.Materials and MethodsRetrospective analysis and review of English literature, 1996-2016.ResultsAnalysis included 23 cases, 7 new cases and 16 from literature, 12 M: 11 F, age 7–82 years. Four occurred in children, mean age 10.1; 19 in adults, mean 61.1 years.The lower lip was involved in the majority of cases (16, 69.56%). 14 (60.87%) were isolated to the lips, 8 (34.78%) were multifocal. Nine (39.13%) occurred in association with Sjogren's syndrome, of which one also had Hashimoto thyroiditis. IgG4-related disease and HIV were reported in one case each. The lip salivary glands were involved in most cases (19, 82.6%); 3 (13.6%) showed only cutaneous involvement.The typical presentation was single or multiple nodules (15, 65.21%), with surface ulceration in only two (8.69%). Constituent symptoms were absent in all cases, paresthesia was reported in one (4.34%). The majority (18, 78.26%) was extranodal marginal zone B-cell lymphoma - mucosa-associated lymphoid tissue lymphoma (EMZB-MALT), and one case each was mantle cell, NK-T cell, CD30 positive and plasmablastic lymphoma.ConclusionThe lips seem to have a unique pattern of non-Hodgkin lymphoma dominated by EMZB-MALT lymphoma, rarely other types. In more than half, neither Sjogren's syndrome nor other chronic inflammation was identified. Lesions tend to present as asymptomatic slowly progressing, non-ulcerated submucosal masses. Lymphoma should be considered even in the absence of constituent symptoms, as most cases showed none. Although the number of reported cases is rather small, disease course is usually prolonged and prognosis seems to be good. 相似文献
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Antimicrobial resistance is a rising problem among Gram-negative organisms, and resistance to carbapenems is a special concern and an urgent public health threat. Rapid detection of carbapenem resistance, and carbapenemase production specifically, is becoming increasingly important for guiding infection control strategies and for therapeutic management of patients. Several types of phenotypic tests for the detection of carbapenemase production continue to be developed and include culture/growth-based methods (carbapenem inactivation method [CIM]/modified CIM [mCIM]), colorimetric assays (Carba NP and derivatives), matrix-assisted laser desorption ionization–time of flight mass spectrometry (MALDI-TOF MS)-based tests, and lateral-flow assays. Here, we describe the tests currently available, their performance characteristics, and how to select and verify/validate a test for the specific needs of a laboratory. 相似文献
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