Binder’s Syndrome

Binder's Syndrome also known as Maxillo-Nasal Dysplasia is a developmental disorder primarily affecting the anterior part of the maxilla and nasal complex (nose and jaw). It is a rare disorder and the causes are unclear. It is an uncommon condition characterized by a retruded mid-face with an extremely flat nose. Hereditary factors and vitamin D deficiency during embryonic growth have been researched as possible causes. Morphological characteristics of the syndrome are of fundamental importance for the correct diagnosis and treatment planning of these patients. We hereby report to you a rare case of Binder's syndrome with clinical, radiographic features and discussed the treatment options

Effectiveness of Direct Oral Anticoagulants in Obese Adults With Atrial Fibrillation: A Systematic Review of Systematic Reviews and Meta-Analysis.

Background: Atrial Fibrillation (AF) is the most common sustained cardiac arrhythmia. Obesity is an independent risk factor for AF. Anticoagulants have been strongly recommended by all international guidelines to prevent stroke. However, altered pathophysiology in obese adults may influence anticoagulant pharmacology. Direct oral anticoagulants (DOACs) in the context of obesity and AF have been examined in recent systematic reviews. Despite the similarities in included studies, their results and conclusions do not agree. Methods and Results: The protocol for this review was registered with PROSPERO (CRD42020181510). Seven key electronic databases were searched using search terms such as "atrial fibrillation," "obese,*" "overweight," "novel oral anticoagulant," "direct oral anticoagulant," "DOAC," "NOAC," "apixaban," dabigatran," "rivaroxaban," and "edoxaban" to locate published and unpublished studies. Only systematic reviews with meta-analyses that examined the effect of DOACs in overweight or obese adults with AF, published in the English language, were included. A total of 9,547 articles were initially retrieved. After removing the duplicates, title and abstract review and full-text review, five articles were included in the systematic review. From these only RCTs were included in the meta-analyses. There was disagreement within the published systematic reviews on DOACs in obesity. The results from our meta-analysis did not show any significant difference between all body mass index (BMI) groups for all outcomes at both 12 months and for the entire trial duration. Non-significant differences were seen among the different types of DOACs. Conclusion: There was no difference between the BMI classes in any of the outcomes assessed. This may be due to the limited number of people in the trial that were in the obese class, especially obese class III. There is a need for large prospective trials to confirm which DOACs are safe and efficacious in the obese class III adults and at which dose

Medication Adherence, Burden and Health-Related Quality of Life in Adults with Predialysis Chronic Kidney Disease: A Prospective Cohort Study

This study examines the associations between medication adherence and burden, and health-related quality of life (HRQOL) in predialysis chronic kidney disease (CKD). A prospective study targeting adults with advanced CKD (estimated glomerular filtration rate (eGFR) < 30 mL/min/1.73 m2 ) and not receiving renal replacement therapy was conducted in Tasmania, Australia. The actual medication burden was assessed using the 65-item Medication Regimen Complexity Index, whereas perceived burden was self-reported using a brief validated questionnaire. Medication adherence was assessed using a four-item Morisky-Green-Levine Scale (MGLS) and the Tool for Adherence Behaviour Screening (TABS). The Kidney Disease and Quality of Life Short-Form was used to assess HRQOL. Of 464 eligible adults, 101 participated in the baseline interview and 63 completed a follow-up interview at around 14 months. Participants were predominantly men (67%), with a mean age of 72 (SD 11) years and eGFR of 21 (SD 6) mL/min/1.73 m2 . Overall, 43% and 60% of participants reported medication nonadherence based on MGLS and TABS, respectively. Higher perceived medication burden and desire for decision-making were associated with nonadherent behaviour. Poorer HRQOL was associated with higher regimen complexity, whereas nonadherence was associated with a decline in physical HRQOL over time. Medication nonadherence, driven by perceived medication burden, was prevalent in this cohort, and was associated with a decline in physical HRQOL over time

Effect of pharmacist‐led medication review on medication appropriateness in older adults with chronic kidney disease

This study evaluated the effect of pharmacist‐led review on medication appropriateness in 204 older patients with chronic kidney disease (CKD) admitted to an Australian hospital. Medication appropriateness was evaluated using the Medication Appropriateness Index (MAI) prior to medication review, after review (assuming all recommendations were accepted by physicians) and after outcome (acceptance/non‐acceptance) of recommendations. Overall, 95 patients (46%) received a medication review by pharmacists. The median (interquartile range) MAI score decreased significantly from a baseline of 7 (3–12) to 5 (2–10) after medication review (p < 0.001) and to 6 (2–10) after the outcome of recommendations (p < 0.01). The MAI score also decreased in patients with no medication review by a pharmacist from 6 (3–11) at admission to 5 (2–9) at discharge (p < 0.001). MAI scores declined markedly in people with all pharmacist‐conducted medication review recommendations accepted (from 7 to 3; p < 0.05). Reassuringly, hospitalisation alone improved medication appropriateness. However, pharmacist‐led medication review can further optimise medication appropriateness in older CKD patients, particularly when the recommendations are implemented

Home medicines reviews following acute coronary syndrome: study protocol for a randomized controlled trial

Background: Despite continual improvements in the management of acute coronary syndromes, adherence to guideline-based medications remains suboptimal. We aim to improve adherence with guideline-based therapy following acute coronary syndrome using an existing service that is provided by specifically trained pharmacists, called a Home Medicines Review. We have made two minor adjustments to target the focus of the existing service including an acute coronary syndrome specific referral letter and a training package for the pharmacists providing the service.Methods/Design: We will be conducting a randomized controlled trial to compare the directed home medicines review service to usual care following acute coronary syndromes. All patients aged 18 to 80 years and with a working diagnosis of acute coronary syndrome, who are admitted to two public, acute care hospitals, will be screened for enrolment into the trial. Exclusion criteria will include: not being discharged home, documented cognitive decline, non-Medicare eligibility, and presence of a terminal malignancy. Randomization concealment and sequence generation will occur through a centrally-monitored computer program. Patients randomized to the control group will receive usual post-discharge care. Patients randomized to receive the intervention will be offered usual post-discharge care and a directed home medicines review at two months post-discharge. The study endpoints will be six and twelve months post-discharge. The primary outcome will be the proportion of patients who are adherent to a complete, guideline-based medication regimen. Secondary outcomes will include hospital readmission rates, length of hospital stays, changes in quality of life, smoking cessation rates, cardiac rehabilitation completion rates, and mortality.Discussion: As the trial is closely based on an existing service, any improvements observed should be highly translatable into regular practice. Possible limitations to the success of the trial intervention include general practitioner approval of the intervention, general practitioner acceptance of pharmacists' recommendations, and pharmacists' ability to make appropriate recommendations. A detailed monitoring process will detect any barriers to the success of the trial. Given that poor medication persistence following acute coronary syndrome is a worldwide problem, the findings of our study may have international implications for the care of this patient group.Trial registration: Australian New Zealand Clinical Trials Registry ACTRN12611000452998. © 2012 Bernal et al; licensee BioMed Central Ltd

Independent genomewide screens identify the tumor suppressor VTRNA2-1 as a human epiallele responsive to periconceptional environment

Background: Interindividual epigenetic variation that occurs systemically must be established prior to gastrulation in the very early embryo and, because it is systemic, can be assessed in easily biopsiable tissues. We employ two independent genome-wide approaches to search for such variants. Results: First, we screen for metastable epialleles by performing genomewide bisulfite sequencing in peripheral blood lymphocyte (PBL) and hair follicle DNA from two Caucasian adults. Second, we conduct a genomewide screen for genomic regions at which PBL DNA methylation is affected by season of conception in rural Gambia. Remarkably, both approaches identify the genomically imprinted VTRNA2-1 as a top environmentally responsive epiallele. We demonstrate systemic and stochastic interindividual variation in DNA methylation at the VTRNA2-1 differentially methylated region in healthy Caucasian and Asian adults and show, in rural Gambians, that periconceptional environment affects offspring VTRNA2-1 epigenotype, which is stable over at least 10 years. This unbiased screen also identifies over 100 additional candidate metastable epialleles, and shows that these are associated with cis genomic features including transposable elements. Conclusions: The non-coding VTRNA2-1 transcript (also called nc886) is a putative tumor suppressor and modulator of innate immunity. Thus, these data indicating environmentally induced loss of imprinting at VTRNA2-1 constitute a plausible causal pathway linking early embryonic environment, epigenetic alteration, and human disease. More broadly, the list of candidate metastable epialleles provides a resource for future studies of epigenetic variation and human disease