Clinical Implication of CDH1 Mutations in Genetic Testing for Diffuse Gastric Cancer Patients.

INTRODUCTION: The objective of this study was to reclassify published germline CDH1 variants identified in gastric cancer (GC) in accordance with the latest ClinVar definition and to correlate their pathogenicity with the established international clinical criteria for genetic testing. METHODS: The relevant literature dating from 1998 to 2019 was systematically searched for data on CDH1 germline mutations in accord with PRISMA guidelines. The collected variants were classified according to the latest ClinVar definition into the following classes: benign (B), likely benign (LB), pathogenic (P), likely pathogenic (LP), and variant of unknown significance (VUS). The McNemar test was used to compare the adequacy of current versus previous International GC Linkage Consortium (IGCLC) criteria. RESULTS: We reclassified a total of 247 CDH1 variants, and we identified that about 70% of B/LB variant carriers were not fulfilling the defined clinical criteria. Instead, all P/LP variants (100%) were associated with the hereditary diffuse gastric cancer (HDGC) phenotype fulfilling the 2020 ILGCC criteria, with a significant improvement (p = 0.025) compared to previous version. CONCLUSIONS: We conclude that germline CDH1 genetic testing is indicated only in families meeting the clinical criteria for the HDGC syndrome. This observation suggests that clinical phenotypes that do not clearly fulfill these criteria should not be considered for CDH1 genetic testing.

Takayasu's Arteritis: A Special Case Report and Review of the Literature.

Background: Takayasu's arteritis is a rare type of vasculitis with severe complications like stroke, ischemic heart disease, pulmonary hypertension, secondary hypertension, and aneurysms. Diagnosis is achieved using clinical and angiographic criteria. Treatment is medical and surgical, but unfortunately, the outcome is limited. Case presentation: A 34-year-old Caucasian woman had an ischemic stroke (2009). She was diagnosed with Takayasu's arteritis and received treatment with methotrexate, prednisolone, and antiplatelet agents, with a mild improvement in clinical state. After 6 years (2015), she experienced an ascending aorta aneurysm, pulmonary hypertension, and mild aortic regurgitation. Surgical treatment solved both the ascending aorta aneurysm and left carotid artery stenosis (ultrasound in 2009 and computed tomography angiogram in 2014). Morphopathology revealed a typical case of Takayasu's arteritis. Tumor necrosis factor inhibitors (TNF inhibitors) were prescribed with methotrexate. At 48 years old (2023), she developed coronary heart disease (angina, electrocardiogram); echocardiography revealed severe pulmonary hypertension, and angiography revealed normal coronary arteries, abdominal aorta pseudoaneurysm, and arterial-venous fistula originating in the right coronary artery with drainage in the medium pulmonary artery. The patient refused surgical/interventional treatment. She again received TNF inhibitors, methotrexate, antiplatelet agents, and statins. Conclusions: This case report presented a severe form of Takayasu's arteritis. Our patient had multiple arterial complications, as previously mentioned. She received immunosuppressive treatment, medication targeted to coronary heart disease, and surgical therapy.

Knowledge on cause, clinical manifestation and treatment for fibromyalgia among medical doctors: A worldwide survey.

OBJECTIVES: Hench introduced the fibromyalgia syndrome almost 50 years ago. In the meantime, the prevalence has increased, the clinical criteria have changed and the way we explain (chronic) pain has altered. DESIGN: In the current study, we conducted a worldwide survey in which we investigate whether medical doctors are familiar with the American College of Rheumatology (ACR) criteria for fibromyalgia and, if so, whether these medical doctors adhere to the clinical guidelines following evidence-based treatments. RESULTS: In total, 286 medical doctors from 43 countries spread over 6 continents filled out the survey. In most of the countries, the diagnosis fibromyalgia was used. Only 10% adhere to the ACR criteria, widespread pain (44%), unrefreshed sleep (24%), fatigue (20%) and cognitive problems (8%) were most used diagnostic criteria. Of the respondents, 94 (32%) mentioned that the cause is unknown or idiopathic, but also a wide variety of other causes was mentioned. More than 70 different treatment options were provided, of which 24% of the responses were classified as according to the clinical guidelines. From this study, we conclude that many medical doctors do not follow the ACR criteria; the majority has an inappropriate knowledge of causes for fibromyalgia and that a minority of treatment advice adhere to the guidelines.

Diagnosis of patients with Lynch syndrome lacking the Amsterdam II or Bethesda criteria.

BACKGROUND: Lynch Syndrome (LS) is an autosomal dominant inheritance disorder characterized by genetic predisposition to develop cancer, caused by pathogenic variants in the genes of the mismatch repair system. Cases are detected by implementing the Amsterdam II and the revised Bethesda criteria, which are based on family history. MAIN BODY: Patients who meet the criteria undergo posterior tests, such as germline DNA sequencing, to confirm the diagnosis. However, these criteria have poor sensitivity, as more than one-quarter of patients with LS do not meet the criteria. It is very likely that the lack of sensitivity of the criteria is due to the incomplete penetrance of this syndrome. The penetrance and risk of developing a particular type of cancer are highly dependent on the affected gene and probably of the variant. Patients with variants in low-penetrance genes have a lower risk of developing a cancer associated with LS, leading to families with unaffected generations and showing fewer clear patterns. This study focuses on describing genetic aspects of LS cases that underlie the lack of sensitivity of the clinical criteria used for its diagnosis. CONCLUSION: Universal screening could be an option to address the problem of underdiagnosis.

Germline heterozygous exons 8-11 pathogenic BARD1 gene deletion reported for the first time in a family with suspicion of a hereditary colorectal cancer syndrome: more than an incidental finding?

BACKGROUND: Colorectal cancer (CRC) is a highly prevalent disease in developed countries. Inherited Mendelian causes account for approximately 5% of CRC cases, with Lynch syndrome and familial adenomatous polyposis being the most prevalent forms. Scientific efforts are focused on the discovery of new candidate genes associated with CRC and new associations of phenotypes with well-established cancer-related genes. BRCA1-associated ring domain (BARD1) gene deleterious germline variants are associated with a moderate increase in the relative risk of breast cancer, but their association with other neoplasms, such as CRC, remains unclear. CASE PRESENTATION: We present the case of a 49-year-old male diagnosed with rectal adenocarcinoma whose maternal family fulfilled Amsterdam clinical criteria for Lynch syndrome. Genetic test confirmed the presence in heterozygosis of a germline pathogenic deletion of exons 8-11 in BARD1 gene. The predictive genetic study of the family revealed the presence of this pathogenic variant in his deceased cancer affected relatives, confirming co-segregation of the deletion with the disease. CONCLUSIONS: To the best of our knowledge, this is the first published work in which this BARD1 deletion is detected in a family with familial colorectal cancer type X (FCCTX) syndrome, in which the clinical criteria for Lynch syndrome without alteration of the DNA mismatch repair (MMR) system are fulfilled. Whether this incidental germline finding is the cause of familial colorectal aggregation remains to be elucidated in scientific forums. Patients should be carefully assessed in specific cancer genetic counseling units to account for hypothetical casual findings in other genes, in principle unrelated to the initial clinical suspicion, but with potential impact on their health.

Development of clinical criteria for the evaluation of indirect restorations.

OBJECTIVE: To propose the development and validation of criteria for evaluating the clinical performance of indirect restorations, considering the variables related to the operator, material, and/or patient. MATERIALS AND METHODS: The experimental design of this study was divided into three stages. Stage 1: development of the new criteria items by specialists in Prosthodontics. Step 2: creation of the criteria, named UERJ criteria, with the description of the parameters that indicate the quality of the restoration, the possible associated complications, and a detailed description of each classification. As well as the development of a form of variables. Step 3: validation of the UERJ criteria. RESULTS: Cohen's Kappa statistic registered for both intra- and inter-examiner agreements a coefficient >0.91 with a p-value <0.0001. The validity of the UERJ criteria was evaluated by tests of sensitivity (0.96) and specificity (0.91) and had a satisfactory accuracy (92.7%), a positive (10.99), and negative (0.05) likelihood ratio and high values predictive variables, with positive (PPV) 0.84 (high specificity) and negative (VPN) 0.98 (high sensitivity), with a confidence interval of 95%. CONCLUSION: The UERJ criteria is a valid instrument for evaluating the clinical performance of indirect restorations. CLINICAL SIGNIFICANCE: The UERJ criteria, developed exclusively for the analysis of indirect restorations, elucidates the details necessary to identify the causes of failures and complications of these restorations.

Diseases from the Spectrum of Dermatitis and Eczema: Can "Omics" Sciences Help with Better Systematics and More Accurate Differential Diagnosis?

Researchers active in the field of inflammatory skin diseases from the spectrum of dermatitis and eczema are well aware of a considerable overlap in the clinical pictures and proposed sets of diagnostic criteria for these diseases, which can hardly be overcome through the clinical or epidemiological research. In effect, patients are included in studies based on vague and overlapping criteria, while heterogeneous study populations may, in turn, lead to non-representative outcomes and continued confusion. In this narrative review, a systematics of diseases from the spectrum of dermatitis and eczema is proposed based on the origins of causative factors and the pathomechanisms involved. Difficulties in differentiating between these diseases are discussed, and the extent to which advances in the "omics" sciences might help to overcome them is considered. Of all the "omics" research in this field, more than 90% of the published papers were devoted to atopic dermatitis, with a striking underrepresentation of other diseases from the spectrum of dermatitis and eczema, conditions which collectively exceed the rates of atopic dermatitis by far. A greater "omics" research effort is urgently needed to tackle other dermatitides, like allergic, irritant and protein contact dermatitis, as well as radiation, seborrheic, stasis or autoimmune dermatitis. Atopic dermatitis findings should be validated not only against healthy donors but also other dermatitides. A clinic-oriented approach is proposed for future "omics" studies in the field of dermatitis and eczema.

Two-year evaluation of porcelain laminate veneers using FDI criteria.

PURPOSE: The use of porcelain laminate veneers (PLVs) is a minimally invasive technique that is often used in restorative dentistry due to esthetic considerations. The aim of this study was to evaluate PLVs according to the Fédération Dentaire Internationale (FDI) World Dental Federation clinical criteria. MATERIALS AND METHODS: This clinical study included 11 patients (7 female and 4 male) who had been admitted to the Usak University Faculty of Dentistry between February 2019 and February 2021. Before taking part in the study, patients were informed about alternative treatment procedure options. A total of 30 PLVs were fabricated and cemented, and patients were evaluated according to the FDI criteria (with a follow-up after 2 years). RESULTS: Restorations were evaluated by two trained researchers. During the follow-up evaluation, no fractures or cracks were observed in any restoration. Further, 73% (n = 22) of the PLVs had perfect marginal adaptation and only 27% (n = 8) had small marginal fractures that could be removed by polishing. Moreover, 57% (n = 17) of the PLVs were evaluated as a good color match (no difference in shade and/or translucency), whereas 33% (n = 13) had only minor deviations. In periodontal examinations, 23% (n = 7) of the PLVs had no plaque, inflammation, or pockets, whereas 77% (n = 23) had minor plaque inflammation and no pocket development. CONCLUSIONS: As there were no fractures, fails, or need for removal of the restorations after 2 years, PLVs showed clinically satisfactory performance. The performance of PLVs can be considered highly favorable due to the minimally invasive and periodontally-compatible nature, with a good color match when carefully planned.

[The Ehlers Danlos syndrome : a rare disease although commonly suspected]. / Le syndrome d'Ehlers Danlos : une maladie rare fréquemment suspectée.

The Ehlers Danlos syndromes (EDS) are a heterogenous group of inherited connective tissue disorders characterized by generalized joint hypermobility and instability, tissue fragility and multiple functional disorders. The EDS hypermobility type (hEDS) is the most common but the mildest subtype of EDS and is defined by joint involvement. hSED diagnosis is based on clinical criteria because no genetic factors nor molecular basis have yet been identified. Since chronic pain constitutes one of hESD main symptoms, the diagnosis is frequently suspected although the syndrome is rare, with a prevalence estimated to be 1/10.000. An expert clinical evaluation is therefore necessary in order to establish an accurate diagnosis. This allows the implementation of physical therapy which is the only treatment that has proven efficacious in reducing joint instability, generalized pain and secondary osteoarthritis.

Les syndromes d'Ehlers Danlos (SED) sont un groupe hétérogène de maladies héréditaires du tissu conjonctif, caractérisées par une hypermobilité et une instabilité articulaires généralisées, une fragilité des tissus et de multiples troubles fonctionnels. La forme hypermobile du SED (hSED) est le sous-type le plus fréquent, mais le moins sévère des SED. Elle se présente essentiellement sous forme de manifestations articulaires. Le diagnostic du hSED repose sur des critères cliniques, aucun facteur génétique ni base moléculaire n'ayant été identifiés à ce jour. La douleur chronique étant l'un des symptômes principaux du hSED, le diagnostic est souvent évoqué alors que le syndrome est rare, la prévalence étant estimée à 1/10.000. Une expertise clinique est nécessaire afin d'établir un diagnostic correct. Ceci permet la mise en route d'une rééducation kinésithérapique, seul traitement ayant démontré son efficacité pour contrôler les symptômes et réduire l'instabilité articulaire et l'arthrose secondaire.

Hypertensive nephrosclerosis: wider kidney biopsy indications may be needed to improve diagnostics.

BACKGROUND: Hypertensive nephrosclerosis is the presumed underlying cause in many end-stage kidney disease (ESKD) patients, but the diagnosis is disputed and based on clinical criteria with low diagnostic accuracy. OBJECTIVE: To evaluate and improve the diagnostic process for nephrosclerosis patients. METHODS: We included adults from the population-based HUNT study (n = 50 552), Norwegian CKD patients referred for kidney biopsy 1988-2012 (n = 7261), and unselected nephrology clinic patients (n = 193) used for matching. Decision tree analysis and ROC curve-based methods of optimal cut-offs were used to improve clinical nephrosclerosis criteria. RESULTS: Nephrosclerosis prevalence was 2.7% in the general population, and eGFR decline and risk for kidney-related hospital admissions and ESKD were comparable to patients with diabetic kidney disease. In the biopsy cohort, current clinical criteria had very low sensitivity (0.13) but high specificity (0.94) for biopsy-verified arterionephrosclerosis. A new optimized diagnostic algorithm based on proteinuria (<0.75 g d-1 ), systolic blood pressure (>155 mm Hg) and age (>75 years) only marginally improved diagnostic accuracy (sensitivity 0.19, specificity 0.96). Likewise, there were still false-positive cases with treatable diagnoses like glomerulonephritis, interstitial nephritis and others (40% of all test positive). Decision curve analysis showed that the new criteria can lead to higher clinical utility, especially for patients considering the potential harms to be close to the potential benefits, while the more risk-tolerant ones (harm:benefit ratio < 1:4) should consider kidney biopsy. CONCLUSION: Further improvements of the current clinical criteria seem difficult, so risks and benefits of kidney biopsy could be more actively discussed with selected patients to reduce misclassification and direct treatment.

Progressive Supranuclear Palsy and Corticobasal Degeneration.

Progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD) are neurodegenerative tauopathies with neuronal and glial lesions composed of tau that is composed predominantly of isomers with four repeats in the microtubule-binding domain (4R tau). The brain regions vulnerable to pathology in PSP and CBD overlap, but there are differences, particularly with respect to distribution of neuronal loss, the relative abundance of neuronal and glial lesions, the morphologic features of glial lesions, and the frequency of comorbid pathology. Both PSP and CBD have a wide spectrum of clinical manifestations, including disorders of movement and cognition. Recognition of phenotypic diversity in PSP and CBD may improve antemortem diagnostic accuracy, which tends to be very good for the most common presentation of PSP (Richardson syndrome), but poor for the most characteristic presentation of CBD (corticobasal syndrome: CBS). Development of molecular and imaging biomarkers may improve antemortem diagnostic accuracy. Currently, multidisciplinary symptomatic and supportive treatment with pharmacological and non-pharmacological strategies remains the standard of care. In the future, experimental therapeutic trials will be important to slow disease progression.

Evaluation of biomarkers of joint damage in patients subjected to arthroscopy.

AIMS: Recently, the determination of biochemical markers has been intensely explored to better understand the mechanisms underlying knee OA. In this study, we aimed to explore the expression pattern of five biochemical markers in patients with knee OA. METHODS: After IRB approval and signed informed consent, 26 patients were enrolled. Serum and synovial samples were collected prior to knee arthroscopy. Pre-operative assessment included diagnosis, Lysholm, Tegner Activity Scale, IKDC score, and radiographic Kellgren and Lawrence classification. ELISA of CTX-I, CTX-II, NTX-I, MMP3, and MMP13 were measured in serum and synovial fluid samples. RESULTS: Twenty-six patients were included, with a mean age of 42 ± 15 years old. Mean results and standard deviation of the biomarkers in serum were as follows: CTX-I 5.8 ± 5.5 ng/mL, CTX-II 3.8 ± 1.7 ng/mL, NTX-I 52 ± 71 (nM BCE), MMP3 1.18 ± 0.6 ng/mL, and MMP13 1243.6 ± 1422 pg/mL; synovial fluid results were as follows: CTX-I 0.74 ± 0.5 ng/mL, CTX-II 5.1 ± 2.5 ng/mL, NTX-I 254 ± 85 (nM BCE), MMP3 0.4 ± 0.4 ng/mL, and MMP13 797 ± 1391 pg/mL. We observed a differential pattern of expression in serum NTX-I in patients with chronic meniscus injuries when compared with ACL injuries or cartilage lesions. CONCLUSIONS: In conclusion, the clinical criteria of early OA are useful to categorize patients with knee conditions. The biochemical markers explored did not yield a differential pattern that can be associated with this classification. Serum NTX-I could be a useful marker of chronic meniscal lesion in future longitudinal studies, after adjusting for age and sex.

Understanding unwarranted variation in clinical practice: a focus on network effects, reflective medicine and learning health systems.

In the past decades, extensive research has been performed on the phenomenon of unwarranted clinical variation in clinical practice. Many studies have been performed on signaling, describing and visualizing clinical variation. We argue that it is time for next steps in practice variation research. In addition to describing and signaling variation patterns, we argue that a better understanding of causes of variation should be gained. Moreover, target points for improving and decreasing clinical variation should be created. Key elements in this new focus should be research on the complex interaction of networks, reflective medicine, patient beliefs and objective criteria for treatment choices. By combining these different concepts, alternative research objectives and new targets for improving and reducing unwarranted variation may be defined. In this perspective, we reflect on these concepts and propose target points for future research.

The WHO diagnostic criteria for polycythemia vera-role of red cell mass versus hemoglobin/hematocrit level and morphology.

Regarding diagnosis of polycythemia vera (PV), discussion persists about hemoglobin (Hb) and/or hematocrit (Hct) threshold values as surrogate markers for red cell mass (RCM) and the diagnostic impact of bone marrow (BM) morphology. We performed a retrospective study on 290 patients with PV (151 males, 139 females; median age 65 years) presenting with characteristic BM features (initial biopsies, centralized evaluation) and endogenous erythroid colony (EEC) formations. This cohort included (1) a group of 229 patients when following the 2008 versus 256 patients diagnosed according to the 2016 World Health Organization (WHO) guidelines, all presented with increased RCM; (2) masked PV patients with low Hb (n = 143)/Hct (n = 45) recruited from the 2008 WHO cohort; (3) a cohort of 17 PV patients with elevated diagnostic Hb/Hct levels but low RCM; and (4) nine PV patients with increased RCM, opposing low Hb/Hct values. All patients were treated according to current PV guidelines (phlebotomies 87%, hydroxyurea 79%, and acetylsalicylic acid 87%). Applying the 2016 WHO criteria significantly increased concordance between RCM and Hb values compared with the 2008 WHO criteria (90 vs. 43% in males and 83 vs. 64% in females). Further analysis of the WHO 2016 PV cohort revealed that increased RCM is associated with increased Hb/Hct (93.8/94.6%). Our study supports and extends the diagnostic impact of the 2016 revised WHO classification for PV by highlighting the importance of characteristic BM findings and implies that Hb/Hct threshold values may be used as surrogate markers for RCM measurements.

Unified screening for potential elevated adverse event risk and other associations.

Patients in large clinical trials and in studies employing large observational databases report many different adverse events, most of which will not have been anticipated at the outset. Conventional hypothesis testing of between group differences for each adverse event can be problematic: Lack of significance does not mean lack of risk, the tests usually are not adjusted for multiplicity, and the data determine which hypotheses are tested. This article describes a Bayesian screening approach suitable for clinical trials and large observational databases that do not test hypotheses, are self-adjusting for multiplicity, provide a direct assessment of the likelihood of no material drug-event association, and quantify the strength of the observed association. Clinical and/or regulatory considerations define the criteria for assessing drug-event associations. The diagnostic properties of this new approach can be evaluated analytically. The result of comparison of the results from the method relative to current methods when applied to a commonly used data set indicates that the findings are largely similar, but with some interesting differences that may be relevant in application. Applying the method to a large vaccine trial reduces the number of adverse events that might require further investigation substantially.

The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome.

Missense MECP2 variants can have various phenotypic effects ranging from a normal phenotype to typical Rett syndrome (RTT). In females, the phenotype can also be influenced by the X-inactivation pattern. In this study, we present detailed clinical descriptions of six patients with a rare base-pair substitution affecting Arg309 at the C-terminal end of the transcriptional repression domain (TRD). All patients have intellectual disability and present with some RTT features, but they do not fulfill the clinical criteria for typical or atypical RTT. Most of the patients also have mild facial dysmorphism. Intriguingly, the mother of an affected male patient is an asymptomatic carrier of this variant. It is therefore likely that the p.(Arg309Trp) variation does not necessarily lead to male lethality, and it results in a wide range of clinical features in females, probably influenced by different X-inactivation patterns in target tissues.

Prader-Willi Syndrome: A spectrum of anatomical and clinical features.

Prader-Willi Syndrome (PWS) is estimated to affect 400,000 people worldwide. First described clinically in 1956, PWS is now known to be a result of a genetic mutation, involving Chromosome 15. The phenotypical appearance of individuals with the syndrome follows a similar developmental course. During infancy, universal hypotonia accompanied by feeding problems, hypogonadism, and dolichocephaly are evident. Characteristic facial features such as narrow bifrontal diameter, almond-shaped eyes, and small mouth (with downturned corners and thin upper lip) may also be evident at this stage. In early childhood, the craniofacial features become more obvious and a global developmental delay is observed. Simultaneously, individuals develop hyperphagia that leads to excessive or rapid weight gain, which, if untreated, exists throughout their lifespan and may predispose them to numerous, serious health issues. The standard tool for differential diagnosis of PWS is genetic screening; however, clinicians also need to be aware of the characteristic features of this disorder, including differences between the genetic subtypes. As the clinical manifestations of the syndrome vary between individuals and become evident at different developmental time points, early assessment is hindered. This article focuses on the clinical and anatomical manifestations of the syndrome and highlights the areas of discrepancy and limitations within the existing literature. Clin. Anat. 29:590-605, 2016. © 2016 Wiley Periodicals, Inc.

Anaphylaxis: Unique aspects of clinical diagnosis and management in infants (birth to age 2 years).

In this rostrum we aim to increase awareness of anaphylaxis in infancy in order to improve clinical diagnosis, management, and prevention of recurrences. Anaphylaxis is increasingly reported in this age group. Foods are the most common triggers. Presentation typically involves the skin (generalized urticaria), the respiratory tract (cough, wheeze, stridor, and dyspnea), and/or the gastrointestinal tract (persistent vomiting). Tryptase levels are seldom increased because of infant anaphylaxis, although baseline tryptase levels can be increased in the first few months of life, reflecting mast cell burden in the developing immune system. The differential diagnosis of infant anaphylaxis includes consideration of age-unique entities, such as food protein-induced enterocolitis syndrome with acute presentation. Epinephrine (adrenaline) treatment is underused in health care and community settings. No epinephrine autoinjectors contain an optimal dose for infants weighing 10 kg or less. After treatment of an anaphylactic episode, follow-up with a physician, preferably an allergy/immunology specialist, is important for confirmation of anaphylaxis triggers and prevention of recurrences through avoidance of confirmed specific triggers. Natural desensitization to milk and egg can occur. Future research should include validation of the clinical criteria for anaphylaxis diagnosis in infants, prospective longitudinal monitoring of baseline serum tryptase levels in healthy and atopic infants during the first year of life, studies of infant comorbidities and cofactors that increase the risk of severe anaphylaxis, development of autoinjectors containing a 0.1-mg epinephrine dose suitable for infants, and inclusion of infants in prospective studies of immune modulation to prevent anaphylaxis recurrences.

Agreement between clinical and portable EMG/ECG diagnosis of sleep bruxism.

The aim of this study was to compare clinical sleep bruxism (SB) diagnosis with an instrumental diagnosis obtained with a device providing electromyography/electrocardiography (EMG/ECG) recordings. Forty-five (N = 45) subjects (19 males and 26 females, mean age 28 ± 11 years) were selected among patients referring to the Gnathology Unit of the Dental School of the University of Torino. An expert clinician assessed the presence of SB based on the presence of one or more signs/symptoms (i.e., transient jaw muscle pain in the morning, muscle fatigue at awakening, presence of tooth wear, masseter hypertrophy). Furthermore, all participants underwent an instrumental recording at home with a portable device (Bruxoff; OT Bioelettronica, Torino, Italy) allowing a simultaneous recording of EMG signals from both the masseter muscles as well as heart frequency. Statistical procedures were performed with the software Statistical Package for the Social Science v. 20.0 (SPSS 20.0; IBM, Milan, Italy). Based on the EMG/ECG analysis, 26 subjects (11 males, 15 females, mean age 28 ± 10 years) were diagnosed as sleep bruxers, whilst 19 subjects (7 males, 12 females, mean age 30 ± 10 years) were diagnosed as non-bruxers. The correlation between the clinical and EMG/ECG SB diagnoses was low (ϕ value = 0.250), with a 62.2% agreement (28/45 subjects) between the two approaches (kappa = 0.248). Assuming instrumental EMG/ECG diagnosis as the standard of reference for definite SB diagnosis in this investigation, the false-positive and false-negative rates were unacceptable for all clinical signs/symptoms. In conclusion, findings from clinical assessment are not related with SB diagnosis performed with a portable EMG/ECG recorder.

Clinical indicators for the initiation of endotracheal suction in children: An integrative review.

BACKGROUND: Critical decisions and interpretation of observations by the nurse caring for the paediatric intensive care (PIC) patient can have dramatic and potential adverse impact on the clinical stability of the patient. A common PIC procedure is endotracheal tube (ETT) suction, however there is inconsistent evidence regarding the clinical indicators to guide and support nursing action. Justification for performing this procedure is not clearly defined within the literature. Further, a review of the literature has failed to establish clear standards for determining if the procedure is warranted, especially for paediatric patients. OBJECTIVE: The objective of the review is to identify current clinical indicators used in practice to determine why ETT suction should be performed. METHOD: An integrative review using a systematic approach to summarise the empirical and theoretical evidence within the literature as it relates to clinical practice was used. RESULTS: Consensus of opinion indicates that ETT suctioning should only be performed when clinically indicated. There is no general consensus regarding which clinical indicators should be measured and used to guide the decision to perform ETT suctioning. CONCLUSION: Research is required to identify the clinical indicators that could be used to design a valid and clinically appropriate tool to use to assist in the decision making process to perform ETT suction.