Association between posterior crossbite and/or deep bite and temporomandibular disorders among Palestinian adolescents: A sex comparison

ABSTRACT

Objective: To assess the prevalence of temporomandibular disorders (TMDs) and posterior crossbite and/or deep bite and any possible association between them.

Methods: One thousand-nineteen adolescents responded to a questionnaire regarding oral habits and TMD symptoms. Afterwards, they were diagnosed according to the Axis I of the DC/TMD and underwent a dental examination. The chi-square test was used for statistical analysis.

Results: A significant association was found between posterior crossbite and some TMD diagnosis, but no association was found between deep bite and TMD, nor between occlusal diagnosis and bruxism. TMDs were more prevalent in girls. There was a significant sex difference (more among females) in the prevalence of painful TMDs.

Conclusion: Posterior crossbite in the adolescent population analyzed may be related to TMDs, in contrary to deep-bite. The presence of posterior crossbite may have different impact on TMD findings between the sexes.     

Tumor–microenvironment interactions studied by zonal transcriptional profiling of squamous cell lung carcinoma

Invasion is a critical step in lung tumor progression. The interaction between tumor cells and their surroundings may play an important role in tumor invasion and metastasis. To better understand the mechanisms of tumor invasion and tumor–microenvironment interactions in lung tumors, total RNA was isolated from the inner tumor, tumor invasion front, adjacent lung, and distant normal lung tissue from 17 patients with primary squamous cell lung carcinoma using punch‐aided laser capture microdissection. Messenger RNA expression profiles were obtained by microarray analysis, and microRNA profiles were generated from eight of these samples using TaqMan Low Density Arrays. Statistical analysis of the expression data showed extensive changes in gene expression in the inner tumor and tumor front compared with the normal lung and adjacent lung tissue. Only a few genes were differentially expressed between tumor front and the inner tumor. Several genes were validated by immunohistochemistry. Evaluation of the microRNA data revealed zonal expression differences in nearly a fourth of the microRNAs analyzed. Validation of selected microRNAs by in situ hybridization demonstrated strong expression of hsa‐miR‐196a in the inner tumor; moderate expression of hsa‐miR‐224 in the inner tumor and tumor front, and strong expression of hsa‐miR‐650 in the adjacent lung tissue. Pathway analysis placed the majority of genes differentially expressed between tumor and nontumor cells in intrinsic processes associated with inflammation and extrinsic processes related to lymphocyte physiology. Genes differentially expressed between the inner tumor and the adjacent lung/normal lung tissue affected pathways of arachidonic acid metabolism and eicosanoid signaling. © 2012 Wiley Periodicals, Inc.     

Early venous manifestation of Ehlers–Danlos syndrome Type IV through a novel mutation in COL3A1

Ehlers–Danlos syndrome (EDS) leads to abnormalities in the synthesis of collagen and complications involving arterial vessels. We describe here a mutation in the intron 14 of the COL3A1 gene leading to EDS Type IV (EDS IV) associated with venous manifestations only. The patient, an 18-year-old male, suffered from truncal varicosity of the long saphenous vein on both sides. Conventional stripping surgery of the left saphenous vein revealed an extremely vulnerable ectatic superficial femoral vein. An inserted vein graft occluded, and venous thrombectomy was unsuccessful. A conservative anticoagulant and compression therapy finally succeeded. This is the first report describing EDS IV due to a mutation in intron 14 of the COL3A1 gene leading to venous manifestations without affecting arterial vessels at clinical presentation. Our findings imply that molecular genetic analysis should be considered in patients with unusual clinical presentation and that conservative therapy should be applied until a suspected clinical diagnosis has been secured.     

Somatic Alterations Contributing to Metastasis of a Castration‐Resistant Prostate Cancer

Metastatic castration‐resistant prostate cancer (mCRPC) is a lethal disease, and molecular markers that differentiate indolent from aggressive subtypes are needed. We sequenced the exomes of five metastatic tumors and healthy kidney tissue from an index case with mCRPC to identify lesions associated with disease progression and metastasis. An Ashkenazi Jewish (AJ) germline founder mutation, del185AG in BRCA1, was observed and AJ ancestry was confirmed. Sixty‐two somatic variants altered proteins in tumors, including cancer‐associated genes, TMPRSS2‐ERG, PBRM1, and TET2. The majority (n = 53) of somatic variants were present in all metastases and only a subset (n = 31) was observed in the primary tumor. Integrating tumor next‐generation sequencing and DNA copy number showed somatic loss of BRCA1 and TMPRSS2‐ERG. We sequenced 19 genes with deleterious mutations in the index case in additional mCRPC samples and detected a frameshift, two somatic missense alterations, tumor loss of heterozygosity, and combinations of germline missense SNPs in TET2. In summary, genetic analysis of metastases from an index case permitted us to infer a chronology for the clonal spread of disease based on sequential accrual of somatic lesions. The role of TET2 in mCRPC deserves additional analysis and may define a subset of metastatic disease.     

Functional Assessment of TSC2 Variants Identified in Individuals with Tuberous Sclerosis Complex

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by mutations in the TSC1 or TSC2 genes. The TSC1 and TSC2 gene products, TSC1 and TSC2, form a complex that inhibits the mammalian target of rapamycin (mTOR) complex 1 (TORC1). Here, we investigate the effects of 78 TSC2 variants identified in individuals suspected of TSC, on the function of the TSC1–TSC2 complex. According to our functional assessment, 40 variants disrupted the TSC1–TSC2‐dependent inhibition of TORC1. We classified 34 of these as pathogenic, three as probably pathogenic and three as possibly pathogenic. In one case, a likely effect on splicing as well as an effect on function was noted. In 15 cases, our functional assessment did not agree with the predictions of the SIFT amino acid substitution analysis software. Our data support the notion that different, nonterminating TSC2 mutations can have distinct effects on TSC1–TSC2 function, and therefore, on TSC pathology.     

Association of Psychiatric History and Type D Personality with Symptoms of Anxiety, Depression, and Health Status Prior to ICD Implantation

Background

Personality factors and psychiatric history may help explain individual differences in risk of psychological morbidity and poor health outcomes in patients with an implantable cardioverter defibrillator (ICD).

Purpose

We examined associations between previous anxiety and depressive disorder, type D personality, anxiety or depressive symptoms, and health status in ICD patients prior to ICD implantation.

Method

Patients (N?=?278; 83 % men; mean age?=?62.2 years ±11) receiving a first ICD from September 2007 through April 2010 at the Medisch Spectrum Twente, The Netherlands completed validated questionnaires before implantation assessing type D personality (14-item Type D Scale), anxiety and depressive symptoms (Hospital Anxiety and Depression Scale), and health status (36-item Short Form Health Survey). History of anxiety or depressive disorder was assessed with the Mini International Neuropsychiatric Interview structural interview.

Results

Previous anxiety or depressive disorder was prevalent in 8 and 19 % of patients, respectively. Type D personality was present in 21 %, depressive symptoms in 15 %, and anxiety in 24 %. In adjusted analyses, type D personality was a dominant correlate of previous depressive disorder (odds ratio (OR) 6.2, p?<?0.001) and previous anxiety disorder (OR 3.9, p?=?0.004). Type D personality (OR 4.0, p?<?0.001), age (OR 1.03, p?=?0.043), and gender (OR 2.5, p?=?0.013) were associated with anxiety symptoms at baseline. Type D personality (OR 5.9. p?<?0.001) was also associated with increased depressive symptoms at baseline. Heart failure and type D personality were related to poorer health status.

Conclusion

In ICD patients, prior to ICD implantation, a previous anxiety or depressive disorder, type D personality, and anxiety and depressive symptoms were associated with poorer health status. Type D personality was also independently associated with increased anxiety and depression symptoms.     

A qualitative participatory study to identify experiences of coronary heart disease patients to support the development of online self-management services

ObjectiveWeb-based self-management services remain underutilized in current practice. Our aim was to gain insight into disease and self-management experiences of patients in early and progressive stages of coronary heart disease (CHD), to understand moderating effects of daily life experiences on the utilization of web-based self-management services and preconditions for use.MethodsWe applied generative research techniques, which stem from the field of product design and are characterized by the use of creative processes. Three groups of patients with CHD received a sensitizing package to document and reflect on their health, and were subsequently either interviewed or participated in a focus group session.ResultsIn total, 23 patients participated in this study. Emerging themes were (1) fear for recurrent events, (2) experiences with professional care, (3) the perceived inability to prevent disease progression, (4) the desire to go on living without thinking about the disease every day, (5) the social environment as a barrier to or facilitator for self-management, and (6) the need for information tailored to personal preferences.ConclusionHow patients experience their disease varies between stable and post-acute stages, as well as between early and progressive stages of CHD. Patients in post-acute stages of the disease seem to be most amenable to support, while patients in stable stages want to live their life without being reminded of their disease. In the context of self-management, web-based services should be adapted to the variation in needs that occur in the different stages of CHD and new strategies to fit such services to these needs should be developed. Furthermore, they should be tailored to patients’ individual health situation and preferences, support patient empowerment, and manage expectations regarding the progression of their disease.