Trisomy 18 – When the Diagnosis Is Compatible With Life

Trisomy 18 is an autosomal chromosomal disorder characterized by the presence of an extra 18 chromosome. In the last decades, and as the therapeutic options have become more relevant, the medical community witnessed a paradigm shift on the offer of treatment to these children.This is a retrospective, cohort study that strives to characterize the clinical path and survival of the children with the diagnosis of trisomy 18, accompanied in a tertiary pediatric hospital between 1995 and 2020.Six children were identified with trisomy 18, two of them mosaic (33,3%) and four were females (66,7%). All had cardiovascular, cognitive and physical development anomalies or minor congenital anomalies (n=6, 100%) and most presented musculoskeletal anomalies (n=5, 83,3%) and feeding difficulties (n=4, 66,7%). Four children (66,7%) were reliant on devices or equipment and all needed chronic medication (n=6, 100%). Two children (33,3%) were submitted to surgical interventions. Four children (66,7%) were hospitalized in the last year of life. A decision of limitation of therapeutic effort was present in three cases (50%) with one child being referenced to pediatric palliative care (16,7%). One-month, one-year and ten-year survival were 66,7% (n=4), 33,3% (n=2, both mosaic), and 16,7% (n=1, mosaic) respectively.Conclusions: Knowledge on the clinical picture is of great importance regarding the neonatal care and the decisions about invasive treatments, which can involve ethical issues, highlighting, concurrently, the need for attempted referral of these children to pediatric palliative care teams.

General Practice Clinical Pharmacist Standards of Practice for Delivery of Polypharmacy and Chronic Disease Medication Reviews: A Consensus Study.

BackgroundGeneral practice in the UK is experiencing a crisis. Greater multidisciplinary working is a potential solution. The new general practice contract in Scotland encourages this and includes a new pharmacotherapy service to be delivered by General Practice Clinical Pharmacists (GPCPs). Consensus is lacking for the standards of practice for delivery of pharmacotherapy medication reviews (which are polypharmacy and chronic medication reviews) as part of this service.AimTo identify and validate standards of practice for polypharmacy and chronic disease medication (pharmacotherapy level 3) reviews conducted by GPCPs. MethodA two-phased mixed-methods consensus methodology was used. Phase 1: An expert group of GPCPs (n=4) and clinical pharmacist managers (n=2) responsible for delivering the pharmacotherapy service used a Modified Nominal Group Technique to generate potential standards. Phase 2: Two-round Delphi survey involving GPCPs with ≥1 year of experience of working in general practice (n=159).ResultsThe expert group identified 44 potential standards of practice for polypharmacy and chronic disease reviews. Practicing GPCPs indicated during the Delphi phase that the 44 standards were applicable to practice. The standards of practice covered seven main categories: skills, environment, qualifications, qualities and behaviours, knowledge, process and experience.ConclusionPracticing GPCPs indicated that the standards identified by the expert group are acceptable and valid for current practice and the delivery of polypharmacy and chronic medication reviews. The application of these standards to practice may help GPCPs and general practices to ensure equitable delivery of patient care.

The impact of the COVID-19 pandemic on accessing HIV care: A case report

The coronavirus disease 2019 (COVID-19) pandemic has had an enormous impact on the provision of human immunodeficiency virus (HIV) services amongst people living with HIV. Many people have adopted different health-seeking behaviour in alignment with the lockdown provisions during the COVID-19 pandemic. These lockdown regulations have had a huge impact on healthcare access for people on chronic medication. The disruption of antiretroviral therapy (ART) has a profound effect on HIV-associated morbidity and mortality. The impact on HIV programmes as a result of the interruption in ART could be bigger than the HIV pandemic alone.

Effect of Third-Generation Beta Blockers on Weight Loss in a Population of Overweight-Obese Subjects in a Controlled Dietary Regimen

Background. Overweight and obesity often develop in individuals with genetic susceptibility and concomitant risk factors; however, medications can represent precipitating factors in some cases: evidence suggests that some antihypertensive drugs can adversely affect energy homeostasis and metabolism. Aim. The primary aim of this study was to investigate whether long-term therapy with a beta blocker impairs weight loss during a period of appropriate personalized hypocaloric diet and standardized physical activity in overweight and obese hypertensive patients in monotherapy and without comorbidities, compared to other antihypertensive drugs and to a control group not taking antihypertensive therapy. Subjects and Methods. We enrolled overweight and obese patients taking antihypertensive drugs; subjects were divided into 3 groups: those taking traditional beta blockers (bB group), those taking third-generation beta blockers (bB-3 group), and those taking other antihypertensive drugs (non-bB group). We also enrolled subjects receiving neither antihypertensive therapy nor other chronic medication in the prior 12 months as controls. All subjects underwent personalized hypocaloric diets for a period of 24 months with monthly follow-up. Anthropometric parameters were measured at enrollment and then monthly after diet prescription. Glucose and lipid values were assessed at baseline and at 12 and 24 months during dietary regimen. Results. We enrolled a total of 120 overweight and obese patients aged 50.30 ± 1.13 years (mean ± standard deviation) with a mean BMI of 31.79 ± 0.65 kg/m2; 90 were taking antihypertensive drugs (no comorbidity and no polytherapy), while 30 subjects receiving neither antihypertensive therapy nor other chronic medication in the prior 12 months were considered as controls. After 6 months, the percent total weight loss (TWL%) was lower in the bB group (3.62 ± 1.96 versus 5.27 ± 1.76 in the bB-3 group, versus 5.15 ± 1.30 in the non-bB group, and versus 4.70 ± 0.87 in the control group), as well as their BMI. After 24 months, we kept finding the worst result in the bB group (TWL% = 9.22 ± 2.19 versus 12.79 ± 1.72 in the non-bB group and 12.28 ± 1.97 in the control group) with the best trend in the bB-3 group (TWL% = 16.19 ± 2.67).

Evaluation of a Novel Pharmacist-Delivered Adherence Improvement Service via Telehealth

Nearly half of all patients prescribed a chronic medication do not adhere to their regimen. Conversion from a 30- to 90-day medication refill is associated with improved adherence. The objective of the study was to assess the change in proportion of days covered (PDC) in those who converted to a 90-day fill and those who did not after a telehealth pharmacist-delivered, medication adherence intervention. This retrospective review involved data collected between May and December 2018. Patients with ≤85% baseline PDC rates were targeted. One group included patients who converted to a 90-day fill after the pharmacist intervention. The comparator group did not convert to a 90-day fill. Differences in median end-of-year (EOY) PDC rates for each medication class were compared between groups. An alpha level of 0.05 was set a priori. Overall, 237 patients converted to a 90-day fill and 501 did not. There was no significant difference in age, sex, and total number of drugs per patient. A Mann–Whitney U test revealed statistically significant improvements in median EOY PDC in the group that converted to a 90-day fill (+9% vs. −3%, p < 0.001). Pharmacist-delivered telehealth interventions were associated with improved PDC rates in those who converted to a 90-day fill.

Medical care contact for infertility and related medication use during pregnancy – a European, cross-sectional web-based study

Aims: The aim of the study was two-fold: i) to determine the prevalence of medical care contact for infertility in European countries; ii) to map overall and long-term/chronic medication use during pregnancy in women who sought medical care due to infertility.Methods: This is a sub-study of the Multinational Medication Use in Pregnancy Study, a cross-sectional, web-based study conducted from October 2011 to February 2012. We included 8097 participants from Europe who were pregnant or new mothers. We collected data on overall and long-term/chronic medication use, medical care seeking due to infertility, and whether women eventually conceived spontaneously or with the aid of infertility treatment.Results: Medical care contact for infertility was lower in Western Europe (prevalence estimate: 10.0-15.3%), compared with Northern (15.2-17.5%) or Eastern (17.4-20.9%), but Poland had the lowest estimate (8.0%). Overall, 660 (8.2%) women sought medical care due to infertility but conceived spontaneously; 548 (6.8%) conceived aided by fertility treatment, and 6889 (85.0%) women did not seek help. Use of any medication was comparable across the three groups (range 80.4-82.5%), but women seeking help for infertility (21.8-24.6%) took more often long-term/chronic medications than women who did not (14.8%).Conclusion: Medical care contacts for infertility varies greatly across European countries. Women who had medical contact due to infertility used more often chronic medications in pregnancy than women who did not, pointing to more co-morbidities and risk pregnancies.

Surgical procedures in patients on aspirin. Literature Review

Aspirin is referred to as the original of the common non-steroid anti-inflammatory drugs and is used as a comparison measure to new ones. Aspirin, whose active ingredient is acetylsalicylic acid, combines strong antipyretic, analgesic, anti-inflammatory and anti-coagulant action. For the latter, aspirin is administered on an ongoing basis to patients for the prevention of cardiovascular events or recurrence of cerebral throm- bosis and therapeutically to patients with a history of heart attack or ischemic stroke. Taking aspirin as an anticoagulant chronic medication concerns dentists es- pecially when it comes to surgical procedures as it is likely to cause increased bleeding perioperatively. The management of the patient on aspirin varies depending on the reason aspirin is administered and its dosage, the co-administration of other antiplatelet or anticoagulant drugs and the severity of the surgical procedure itself. An interruption of antiplatelet medication is decided after assessing the above-mentioned criteria and con- sulting the patient’s physician. Additionally, in cases of increased bleeding risk like complex extractions, pre- prosthetic surgery, periodontal surgery, the procedure needs to be performed as atraumatically as possible and be accompanied by local haemostatic measures.

Assessment of utilization and willingness to use it devices to support heath management

Background Amongst the technological solutions that aim to facilitate daily tasks, the potential contributions of mhealth is significant, mainly within the crescent elderly population presenting chronic diseases and using medication. Thus, this study aimed to assess the utilization and willingness to use IT devices to support health management, such as medication management. Methods A cross-sectional study was held, including the application (face-to-face and online) of an electronic questionnaire, with 164 participants. Data were processed using SPSS v27. Results Study participants had a mean age of 37.6 ± 20.0 years old, 23.8% were ≥ 60 years old, 73.2% female, 28% declared to suffer a chronic disease, with 27.4% using chronic medication and mostly managed by oneself (71.1%). Most of the participants owned and used a mobile phone (respectively 93.9% and 59.8%), a tablet (48.8% and 44.5%), and a computer (73.8% and 17.1%). Only about half of the participants aged ≥ 60 years declared to use their mobile devices to internet access (mobile phones 51.3%, tablet 35.9% and computers 41%). In this group, only 2% mentioned using applications in the health area. Overall, 85.4% considered these tools could be useful, although fewer would be willing to buy them (33.6% for &lt; 60 years and 66.7% for ≥ 60 years). Conclusions The use of IT devices is less widespread in the older population, the age groups with greatest need for tools to support health management. Future development of this area must pay special attention to target audience characteristics and their limitations in the use of technology.