Validation and clinical application of transactivation assays for RUNX1 variant classification

Familial platelet disorder with associated myeloid malignancies (RUNX1-FPD) is caused by heterozygous pathogenic germline variants of RUNX1. In the present study, we evaluate the applicability of transactivation assays to investigate RUNX1 variants in different regions of the protein. We studied 11 variants to independently validate transactivation assays supporting variant classification following the ClinGen Myeloid Malignancies variant curation expert panel guidelines. Variant classification is key for the translation of genetic findings. We showed that new assays need to be developed to assess C-terminal RUNX1 variants. Two variants of uncertain significance (VUS) were reclassified to likely pathogenic. Additionally, our analyses supported the (likely) pathogenic classification of two other variants. We demonstrated functionality of four VUS, but reclassification to (likely) benign was challenging and suggested the need to reevaluate current classification guidelines. Finally, clinical utility of our assays was illustrated in the context of seven families. Our data confirmed RUNX1-FPD suspicion in three families with RUNX1-FPD-specific family history. Whereas for three variants identified in non RUNX1-FPD-typical families, no functional defect was detected. Applying functional assays to support RUNX1 variant classification can be essential for adequate care of index patients and their relatives at risk. It facilitates translation of genetic data into personalized medicine.

Telephone communication with relatives of hospitalised COVID-19 patients by a specialised family support team: lessons learned

During March and April 2020, the number of hospital admissions and deaths due to the first wave of COVID-19 peaked. The objective of this study was to analyse the experiences of a team of health professionals in charge of breaking bad news over the telephone to the relatives of patients admitted to the respiratory ward of a large hospital in Barcelona. This was a qualitative research based on semi-structured individual interviews with all the members of the team and a group interview. The interviews were analysed using Condensation of Meaning techniques. Three central themes emerged after analysing the interviews: (1) the call itself, (2) the need for good organisational support both before and during a crisis, and (3) the care that the professionals themselves need. To set up a large-scale operation to break bad news over the phone, some organisational aspects must be considered that go beyond the call itself. All these aspects are interrelated to a large extent, and due attention should be given to proper communication and adequate care practices for both relatives and health workers.

Rationing of Nursing Care on Example of Selected Health Care Facility

Contemporary health determinants require nurses to develop new competencies and skills while performing complex tasks in all forms of health care. The problem of rationing of care is present all over the world and usually occurs when available resources are too low to provide adequate care to all patients. The most common reasons for loss of care are shortages of nurses, use of modern treatment methods, increased demand for care by a large number of patients, and greater knowledge of patients about their rights. A questionnaire survey was conducted among 295 nurses employed in hospital wards. The survey was conducted from September to December 2020 using the standardized BERNCA (The Basel Extent of Rationing of Nursing Care) questionnaire to measure the level of rationing of nursing care. The research was hampered by the sanitation regime associated with the SARS CoV-2 pandemic. Nursing care rationing is dependent on seniority and place of work. The mean total BERNCA score of the degree of rationing of nursing care was 2.58 ± 0.96 on a scale of 0 to 4 (where 0 means “no need for it” and 4 means “often”. The median score was 2.69. The higher frequency of rationing nursing care was characteristic of those working on surgical wards. The mean score obtained by them was 2.72 ± 0.86, with the median equal to 2.88. In the case of nurses employed in non-surgical wards, the scores were 2.08 ± 1.07 and 2.28, respectively. Rationing of nursing care is dependent on seniority and work location, with a higher degree of rationing of care occurring in surgical units.

Framing Binational Challenges of Mental and Cognitive Health Care in Mexican-Origin Older Adults: Consensus Findings

Growth in older populations, and hence in the number of persons living with dementia, is particularly rapid for individuals of Mexican origin living in the U.S. and Mexico. In order to identify influences on cognitive health in this diverse population, the University Texas at Austin and Mexican National Institute of Geriatrics (INGER) organized their second Bridging Conference titled: "Framing Challenges of Cognitive and Mental Health Care in Mexican-origin Older Adults in Mexico and the U.S". In this presentation, we highlight the results of a consensus-building session, during which bi-national expert opinions were generated and synthesized addressing gaps in research, knowledge, and policy, as well as the setting of priorities for immediate action and future research. Reducing barriers to adequate care for those aging-in-place with dementia was a central theme of the identified priorities. Critical areas of identified need, more specifically, included reducing social isolation, caregiver burden, and diminishing retirement income.

Making complex decisions in uncertain times: experiences of Dutch GPs as gatekeepers regarding hospital referrals during COVID-19—a qualitative study

Background General practitioners often act as gatekeeper, authorizing patients’ access to hospital care. This gatekeeping role became even more important during the current COVID-19 crisis as uncertainties regarding COVID-19 made estimating the desirability of hospital referrals (for outpatient or inpatient hospitalization) complex, both for COVID and non-COVID suspected patients. This study explored Dutch general practitioners’ experiences and ethical dilemmas faced in decision making about hospital referrals in times of the COVID-19 pandemic. Methods Semi-structured interviews with Dutch general practitioners working in the Netherlands were conducted. Participants were recruited via purposive sampling. Thematic analysis was conducted using content coding. Results Fifteen interviews were conducted, identifying four themes: one overarching regarding (1) COVID-19 uncertainties, and three themes about experienced ethical dilemmas: (2) the patients’ self-determination vs. the general practitioners’ paternalism, (3) the general practitioners’ duty of care vs. the general practitioners’ autonomy rights, (4) the general practitioners’ duty of care vs. adequate care provision. Conclusions Lack of knowledge about COVID-19, risks to infect loved ones, scarcity of hospital beds and loneliness of patients during hospital admission were central in dilemmas experienced. When developing guidelines for future crises, this should be taken into account.

Telegenetics and COVID 19: Through the Pandemic and Beyond

Introduction - The COVID 19 pandemic led to restrictions on the conventional ways of healthcare delivery. Telemedicine provided a viable solution that was in line with the social distancing policies imposed to minimize disease transmission. This demanded physicians adapt to new ways of healthcare delivery. We surveyed geneticists across the country to determine their experience and to ascertain if telegenetics will be a lasting change. Materials and Methods - A 23 item standardized survey was distributed to various US-based geneticists via email and other social media platforms focusing on their experience of providing care via telemedicine. Results - We received 69 responses from physicians across 26 states. Of these, 91% practiced in academia. 70% responded that pediatric genetics takes up more than 50% of their practice. 68% had over 50% of their practice switch to telemedicine. 77% felt they could provide adequate care via telemedicine and 94% of providers would like to continue telemedicine post-pandemic. Conclusion - The future of telemedicine looks promising as the majority of clinicians would like to routinely use telemedicine post-pandemic. Uniform guidelines for use of telemedicine in genetics may need to be proposed by professional societies and supported by federal laws.

Déficit Del Autocuidado En El Adulto Mayor Con Diabetes

Older adults who go through a situation of family abandonment tend to suffer from sadness, loneliness or even worse depression, which leads to various situations in their daily lives. Most older adults suffer from type 2 diabetes mellitus, living with this pathology requires multiple care and interventions by the person himself and with the support of the rest of the family, in order to provide adequate routine care for the patient; That is why when there is family neglect, patients lose interest in taking care of themselves and tend to fall into a routine. In the present study, the self-care deficit in older adults was identified. It is a study of non-experimental quantitative design, cross-sectional, correlational, since it is carried out at a specific time and the variables do not have a control. The population is older adults with diabetes pathology, inhabitants of a day house in the state of Hidalgo, Mexico. The sample consisted of 30 people by availability. A survey was conducted among the elderly, only patients living with diabetes pathology to make an analysis of the care performed. As results, it was obtained that approximately 3% of older adults in a home for the elderly in Pachuca de Soto, Hidalgo, carry out proper self-care in their daily activities. A third of older adults have a self-care deficit, it is associated with different situations, starting with non-adherence to treatment and unhealthy habits. The majority of older adults have self-care deficits and therefore tend to be complicated by the pathologies they suffer, it is likely that their blood glucose levels are elevated, as well as the appearance of xerosis on the skin on the feet and hands; To correct this behavior, it is suggested to carry out workshops to teach the correct way to carry out adequate care, as well as to encourage adherence to treatments, carry out a good diet and exercise regularly in order to improve their health and extend life expectancy.

The Role of Gray-Scale Ultrasound in the Diagnosis of Postnatal Testicular Torsion in Children

Testicular torsion is a severe variant of postnatal gonad pathology in children. The speed of development of irreversible ischemic disorders determines not only the medical, but also the social significance of the problem and determines the need for accurate and rapid diagnosis and prompt provision of adequate care to the patient. The only objective method for diagnosing testicular torsion in children is ultrasound. At the same time, the characteristics of the child’s body: the small size of the object of study, low rates of intratesticular blood flow and restless behavior during the study sharply reduce the diagnostic value of the Doppler study or make it technically impossible. Thus, seroshkal ultrasound is the first stage of diagnosis of this complex emergency pathology, based on the results of which it is possible to diagnose testicular torsion with great accuracy. The publication summarizes our own experience of 110 echographic observations of postnatal testicular torsion in children older than 2 months, all cases were verified intraoperatively. A quantitative method for estimating the deformity of a twisted testicle is proposed and its statistical reliability is proved. The options presented for gray-scale changes in the structure of damaged gonads and determined their prognostic significance. The publication contains a review of the literature and is extensively illustrated.

Agentes Fluoretados e Cárie Radicular: Uma Revisão de Literatura / Fluoride Agents and Root Caries: A Literature Review

Resumo: A cárie radicular é uma patologia progressiva e dinâmica que ocorre na interface biofilme e cemento/dentina radicular, com maior taxa de prevalência na população idosa. O uso profissional de agentes fluoretados consiste na intervenção minimamente invasiva, capaz de prevenir e inativar as Lesões de Cárie Radicular (LCRs). Desta forma, o presente estudo objetivou identificar os diferentes agentes terapêuticos fluoretados de uso profissional que agem na inativação/paralisação da cárie radicular. Para tanto, foi realizado levantamento bibliográfico dos últimos cinco anos por meio de análise criteriosa de artigos científicos. Os idiomas foram, predominantemente o português, inglês e espanhol. Como critérios de inclusão foi considerado os trabalhos relacionados com o objetivo do presente estudo, estudos disponíveis na integra, artigos publicados entre 2016 e 2021, sendo descartados artigos que não estavam em consonância com o objetivo deste estudo, teses e dissertações. Conclui-se que o Diamino Fluoreto de Prata (DFP) é o agente fluoretado que apresentou maior eficácia na prevenção e paralização das LCRs. Contudo, sugere-se que mais estudos sejam realizados, com foco na intervenção minimamente invasiva, que tragam protocolos clínicos de atendimento adequado ao tratamento da cárie radicular Palavras-chave: Cárie; Cárie radicular; Agentes fluoretados.Abstract: Root caries is a progressive and dynamic pathology that occurs at the biofilm and cementum/root dentin interface, with a higher prevalence rate in the elderly population. The professional use of fluoridated agents is a minimally invasive intervention capable of preventing and inactivating Root Caries Lesions (CRLs). Thus, the present study aimed to identify the different fluoride therapeutic agents for professional use that act in the inactivation/paralysis of root caries. Therefore, a bibliographic survey of the last five years was performed through a careful analysis of scientific articles. The languages were predominantly Portuguese, English and Spanish. As inclusion criteria, works related to the objective of this study were considered, studies available in full, articles published between 2016 and 2021, and articles that were not in line with the objective of this study, theses and dissertations were discarded. It is concluded that Silver Diamino Fluoride (DFP) is the fluoridated agent that showed the greatest effectiveness in preventing and paralyzing CSFs. However, it is suggested that more studies be carried out, focusing on minimally invasive intervention, which bring clinical protocols for adequate care for the treatment of root caries. Keywords: Caries; Root caries; Fluoridated agents.

Perspectives for Buck Kids in Dairy Goat Farming

To start milk production, dairy goats need to give birth at least once. While most female kids are reared to become the next generation of dairy goats, only a small proportion of male kids (buck kids) are reared with reproduction aims. The market for buck kid meat, especially within Northern European countries, is currently relatively small compared to the number of bucks born. Therefore, the purposes for buck kids are limited and a substantial proportion of buck kid meat is used for pet food. Due to the limited economic value of buck kids, farmers are faced with a dilemma. Although raising bucks costs more money than it yields, the birth of kids is a prerequisite for production of milk and should be seen as an investment for business-wise healthy dairy goat farming. In that perspective, dairy goat farmers have an ethical responsibility toward buck kids, as well. In this paper, we compare various scenarios of dealing with the issue of surplus male animals. We provide recommendations for the rearing of buck kids based on the sector‘s experience and current practice in the Netherlands. Reducing the number of surplus (male) offspring, e.g., by an optimized prolonged lactation management and/or by artificial insemination with sex-sorted semen, could alleviate the issue of low value buck kids. Killing surplus animals before or directly after birth, on the other hand, is met with increasing societal scrutiny. Initiatives to propagate a market for buck kid meat for human consumption are important to enable a suitable and sustainable production system. To maintain the health and welfare of goat kids, amongst other factors, sufficient and good quality colostrum, milk, and an appropriate diet as they grow older, needs to be provided. One option to assure the safeguarding of health and welfare of all goat kids are quality assurance schemes for milk production. These schemes make dairy farmers accountable for the health and welfare of all kids in the rearing period, including the provision of colostrum and adequate care for newborn buck kids. We conclude that the combination of reducing the number of surplus kids, increasing the demand for goat products, and quality assurance schemes that may help to safeguard the welfare of buck kids.