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1.
Dongbing Lai Emma C. Johnson Sarah Colbert Gayathri Pandey Grace Chan Lance Bauer Meredith W. Francis Victor Hesselbrock Chella Kamarajan John Kramer Weipeng Kuang Sally Kuo Samuel Kuperman Yunlong Liu Vivia McCutcheon Zhiping Pang Martin H. Plawecki Marc Schuckit Jay Tischfield Leah Wetherill Yong Zang Howard J. Edenberg Bernice Porjesz Arpana Agrawal Tatiana Foroud 《Alcoholism, clinical and experimental research》2022,46(3):374-383
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Lorena Martin-Morales Sara Manzano Maria Rodrigo-Faus Adrian Vicente-Barrueco Victor Lorca Gonzalo Núñez-Moreno Paloma Bragado Almudena Porras Trinidad Caldes Pilar Garre Alvaro Gutierrez-Uzquiza 《International journal of cancer. Journal international du cancer》2023,152(2):283-297
Matrix metalloproteinase-11 (MMP11) is an enzyme with proteolytic activity against matrix and nonmatrix proteins. Although most MMPs are secreted as inactive proenzymes and are later activated extracellularly, MMP11 is activated intracellularly by furin within the constitutive secretory pathway. It is a key factor in physiological tissue remodeling and its alteration may play an important role in the progression of epithelial malignancies and other diseases. TCGA colon and colorectal adenocarcinoma data showed that upregulation of MMP11 expression correlates with tumorigenesis and malignancy. Here, we provide evidence that a germline variant in the MMP11 gene (NM_005940: c.232C>T; p.(Pro78Ser)), identified by whole exome sequencing, can increase the tumorigenic properties of colorectal cancer (CRC) cells. P78S is located in the prodomain region, which is responsible for blocking MMP11's protease activity. This variant was detected in the proband and all the cancer-affected family members analyzed, while it was not detected in healthy relatives. In silico analyses predict that P78S could have an impact on the activation of the enzyme. Furthermore, our in vitro analyses show that the expression of P78S in HCT116 cells increases tumor cell invasion and proliferation. In summary, our results show that this variant could modify the structure of the MMP11 prodomain, producing a premature or uncontrolled activation of the enzyme that may contribute to an early CRC onset in these patients. The study of this gene in other CRC cases will provide further information about its role in CRC development, which might improve patient treatment in the future. 相似文献
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Julia H. Vermylen Gordon J. Wood Elaine R. Cohen Jeffrey H. Barsuk William C. McGaghie Diane B. Wayne 《Journal of pain and symptom management》2019,57(3):682-687
Introduction
Physician communication impacts patient outcomes. However, communication skills, especially around difficult conversations, remain suboptimal, and there is no clear way to determine the validity of entrustment decisions. The aims of this study were to 1) describe the development of a simulation-based mastery learning (SBML) curriculum for breaking bad news (BBN) conversation skills and 2) set a defensible minimum passing standard (MPS) to ensure uniform skill acquisition among learners.Innovation
An SBML BBN curriculum was developed for fourth-year medical students. An assessment tool was created to evaluate the acquisition of skills involved in a BBN conversation. Pilot testing was completed to confirm improvement in skill acquisition and set the MPS.Outcomes
A BBN assessment tool containing a 15-item checklist and six scaled items was developed. Students' checklist performance improved significantly at post-test compared to baseline (mean 65.33%, SD = 12.09% vs mean 88.67%, SD = 9.45%, P < 0.001). Students were also significantly more likely to have at least a score of 4 (on a five-point scale) for the six scaled questions at post-test. The MPS was set at 80%, requiring a score of 12 items on the checklist and at least 4 of 5 for each scaled item. Using the MPS, 30% of students would require additional training after post-testing.Comments
We developed a SBML curriculum with a comprehensive assessment of BBN skills and a defensible competency standard. Future efforts will expand the mastery model to larger cohorts and assess the impact of rigorous education on patient care outcomes. 相似文献7.
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We present the case of 7‐year‐old African American girl with loose anagen syndrome. Although this is a common cause of hair loss in Caucasian children, and there have been reports of cases occurring in dark‐skinned children of North African and Middle Eastern descent, to our knowledge there have been no cases reported in black children of sub‐Saharan African ancestry. We present this case to broaden the differential diagnosis of hair loss in African Americans. 相似文献
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Jos M. Martín Encarnacion Montesinos Pilar Cordero Victor Gonzalez Dolores Ramon 《Pediatric dermatology》2019,36(2):265-267
Trichotillomania is a form of traction alopecia resulting from repetitive and compulsive hair pulling and plucking. Trichotillomania and patchy alopecia areata may have similar clinical and dermoscopic features in some cases. On trichoscopic examination, the presence of black dots, coiled or hook hair, shafts of varying lengths with fraying or split ends (trichoptilosis), and an absence of exclamation mark hairs and yellow dots are suggestive of trichotillomania. 相似文献