Keeping Secrets or Educating Others: A Dyadic Analysis of Group Entitativity’s Influence on Spouses’ Label Management Connected to AATD

In 1963, Goffman argued that forming a group based on shared stigma may provide benefits. However, there is no empirical research on whether perception that a separate, unique, coherent group exists (i.e., group entitativity) influences coping, such as educating others or secrecy, for the stigmatized individual or his or her spouse. Further, little is known about how spouses influence each other in terms of promoting the education of others about a stigmatizing condition, especially when it comes to the role of believing that stigma-based groups, to which they may both belong, exist. This study provides a step toward bridging this gap in the research by applying the label management model in efforts to understand coping for couples in which one spouse is diagnosed with genetic mutations leading to alpha-1 antitrypsin deficiency (AATD). This study included 50 married couples in which one spouse is diagnosed with genetic mutations leading to alpha-1 antitrypsin deficiency (AATD). We found that group entitativity related to those with AATD counterbalanced the influence of genetic stigma on spouses’ intentions to keep the diagnosis secret or to educate others about it. Intrapersonal and interpersonal influences appeared among spouses. Attention is needed on the power of creating groups for stigmatized persons and their relatives. Indeed, people live within a dynamic world of group entities, and multiple social identities including spousal and familial. While attention has been paid to the diffusion of stigmas to loved ones, less has been paid to the uplift of group entities for them.     

Germline gain-of-function MMP11 variant results in an aggressive form of colorectal cancer

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.     

The patellar ligament: A comprehensive review

The patellar ligament (PL) is an epiphyseal ligament and is part of the extensor complex of the knee. The ligament has gained attention due to its clinical relevance to autograft and tendinopathy. A variety of anatomical variations of the PL such as aplasia, numerical variations, and vascularity are being reported recently by clinicians and anatomists. The aim of this literature was to review the available literature to provide a consensus regarding anatomic variations of the PL, neurovasculature surrounding the PL, histology of the PL, and various aspects of PL measurements with relevance to the surgical considerations and sex and age-related differences. A narrative review of the patellar ligament was performed by conducting a detailed literature search and review of relevant articles. A total of 90 articles on the patellar ligament were included and were categorized into studies based on anatomical variations, neurovasculature, morphometrics, microanatomy, sex and age-related difference, and ACL reconstruction. The anatomical variations and morphometrics of the PL were found to correlate with the frequency of strain injuries, tendinopathy, and efficacy of the PL autograft in anterior cruciate ligament reconstruction. The sex differences in PL measurements and the effect of estrogen on collagen synthesis explained a higher incidence of patellar tendinopathy in women. An awareness of its variations enables careful selection of surgical incisions, thereby avoiding complications related to nerve injury. Accurate knowledge of the PL microanatomy assists in understanding the mechanism of ligament degeneration, rupture, autograft harvesting, and ligamentization results.