Validation of Polish-Language Questionnaires for Assessing the Quality of Life of Patients with Primary Ciliary Dyskinesia (PCD-QOL).

In recent years, questionnaires were published in English to assess the quality of life of patients with PCD (Primary Ciliary Diskinesia) for adults, adolescents aged 13-17 years, and children aged 6-12 years and their caregivers. This study aimed to prepare Polish versions of the questionnaires and validate them in specific age groups with the participation of Polish patients with PCD. The individual questionnaires were translated and discussed with the involvement of the creator of the original questionnaire in English.

A Human Right-Based Approach to Dealing with Adverse Events in Residential Care Facilities.

Managing residential care facilities (RCFs) includes the ability to manage adverse events while maintaining a human rights-based approach to care and support. Literature investigating rights-based approaches in RCFs is scarce; therefore, an investigation of the current approach in RCFs will inform improvements. This study sought to identify whether RCFs in Ireland upheld a rights-based approach during the course of adverse events by analyzing notifications of adverse events from 2021 taken from the Database of Statutory Notifications from Social Care in Ireland.

Definitions of serious injury in long-term residential care: a systematic review protocol.

: Evidence indicates that the reporting of serious injury in long-term residential care has increased substantially over the past decade. However, what constitutes a serious injury in residential care is poorly and inconsistently defined. This may result in incidences being unnecessarily reported as a serious injury.

Teachers' views and experiences of student mental health and well-being programmes: A systematic review.

In schools, teachers are often tasked with implementing mental health and well-being programmes. However, little is known about teachers' views on and experiences with implementing these programmes. The aim of this systematic review was to explore teachers' views and experiences of mental health and well-being intervention programmes developed to promote and protect student mental health.

Tissue Glucocorticoid Metabolism in Adrenal Insufficiency: A Prospective Study of Dual-release Hydrocortisone Therapy.

Background: Patients with adrenal insufficiency (AI) require life-long glucocorticoid (GC) replacement therapy. Within tissues, cortisol (F) availability is under the control of the isozymes of 11β-hydroxysteroid dehydrogenase (11β-HSD). We hypothesize that corticosteroid metabolism is altered in patients with AI because of the nonphysiological pattern of current immediate release hydrocortisone (IR-HC) replacement therapy.

Mortality in residential care facilities for people with disability: a descriptive cross-sectional analysis of statutory notifications in Ireland.

Objectives: To determine incidence of death in residential care facilities for people with disability in Ireland, primary cause of death, associations of facility characteristics and deaths, and to compare characteristics of deaths reported as expected and unexpected.

Design: Descriptive cross-sectional study.

Setting: All residential care facilities for people with disability operational in Ireland in 2019 and 2020 (n=1356).

The Effect of Time-Restricted Eating on Insulin Levels and Insulin Sensitivity in Patients with Polycystic Ovarian Syndrome: A Systematic Review.

Results: 2662 papers were identified with 37 selected for full-text review and one paper meeting criteria for inclusion. Ramadan fasting was the only time-restricted eating regimen trialled in this population with no strong evidence of a significant effect on insulin levels.

Conclusion: As the systematic review retrieved only one study investigating time-restricted eating to reduce insulin in patients with PCOS, there is no evidence to suggest that this intervention is effective.

The Impact on Parents of Diagnosing PCD in Young Children.

Primary ciliary dyskinesia (PCD) is an incurable, rare, inherited, chronic condition. Treatment includes the regular clearing of airway mucus, aggressive treatment of infections and management of hearing loss. Caregiver burden has not been explored, hence we interviewed 18 mothers and 6 fathers of children under 6 years to understand the impact of diagnostic testing and implications of a positive diagnosis.

Female Reproductive Health Disturbance Experienced During the COVID-19 Pandemic Correlates With Mental Health Disturbance and Sleep Quality.

The COVID-19 pandemic has adversely affected population mental health. Periods of psychological distress can induce menstrual dysfunction. We previously demonstrated a significant disruption in women's reproductive health during the first 6 months of the pandemic.

Translation of the quality of life questionnaire for primary ciliary dyskinesia (QOL-PCD) into Hebrew: The Israeli experience.

Background: Patients with primary ciliary dyskinesia (PCD) have chronic morbidities affecting their quality of life (QOL). Health-related QOL (HRQOL) has been recognized as an important tool for assessing the burden of PCD on patients and their families. A PCD-specific HRQOL questionnaire (QOL-PCD) was developed and validated for the English-speaking populations.

Lower airway clinical outcome measures for use in primary ciliary dyskinesia research: a scoping review.

Objectives: Disease-specific, well-defined and validated clinical outcome measures are essential in designing research studies. Poorly defined outcome measures hamper pooling of data and comparisons between studies. We aimed to identify and describe pulmonary outcome measures that could be used for follow-up of patients with primary ciliary dyskinesia (PCD).

Augmenting Speech Quality Estimation in Software-Defined Networking Using Machine Learning Algorithms.

With the increased number of Software-Defined Networking (SDN) installations, the data centers of large service providers are becoming more and more agile in terms of network performance efficiency and flexibility. While SDN is an active and obvious trend in a modern data center design, the implications and possibilities it carries for effective and efficient network management are not yet fully explored and utilized. With most of the modern Internet traffic consisting of multimedia services and media-rich content sharing, the quality of multimedia communications is at the center of attention of many companies and research groups.

The Impact of the COVID-19 Pandemic on Women's Reproductive Health.

Background: The COVID-19 pandemic has profoundly affected the lives of the global population. It is known that periods of stress and psychological distress can affect women's menstrual cycles. We therefore performed an observational study of women's reproductive health over the course of the pandemic thus far.

Cardiometabolic and psychological effects of dual-release hydrocortisone: a cross-over study.

Background: Adrenal insufficiency (AI) is associated with increased cardiovascular morbidity and mortality and reduced quality of life (QoL). Optimum glucocorticoid (GC) dosing and timing are crucial in the treatment of AI, yet the natural circadian secretion of cortisol is difficult to mimic. The once-daily dual-release hydrocortisone (DR-HC) preparation (Plenadren®), offers a more physiological cortisol profile and may address unmet needs.

Perceptions of barriers to effective family planning services among women with disabilities.

Background: Women with disabilities have the same rights as women without disabilities to prevent unintended pregnancy, yet little is known about their experiences in accessing family planning methods.

Objective: This qualitative descriptive study explored perceptions of barriers to effective family planning services among women with disabilities.

Method: Semi-structured, open-ended interviews were conducted with 31 women with diverse disabilities as part of a larger study investigating risks and facilitators of unintended pregnancy among women with disabilities across the United States.

The contribution of serum cortisone and glucocorticoid metabolites to detrimental bone health in patients receiving hydrocortisone therapy.

Background: Glucocorticoid therapy is the most common cause of iatrogenic osteoporosis. Less is known regarding the effect of glucocorticoids when used as replacement therapy on bone remodelling in patients with adrenal insufficiency. Enhanced intracellular conversion of inactive cortisone to active cortisol, by 11 beta-hydroxysteroid dehydrogenase type 1(11β-HSD1) and other enzymes leading to alterations in glucocorticoid metabolism, may contribute to a deleterious effect on bone health in this patient group.

Health related quality of life in adult primary Ciliary dyskinesia patients in Cyprus: development and validation of the Greek version of the QOL-PCD questionnaire.

Background: The QOL-PCD questionnaire is a recently developed Health Related Quality of Life (HRQoL) instrument for Primary Ciliary Dyskinesia. The aim of this study was to translate the adult QOL-PCD questionnaire into Greek language and to conduct psychometric validation to assess its performance.

Methods: Forward translations to Greek and backward translation to English were performed, followed by cognitive interviews in 12 adult PCD patients.

Outcomes of the short Synacthen test: what is the role of the 60 min sample in clinical practice?

Unlabelled: In recent years, the short Synacthen test (SS) has become the most widely used test to assess adrenal reserve. Despite its frequent use, there are still several areas related to the short Synacthen test (SST), which have no consensus including the optimum sampling times, that is, whether a 60 min post-Synacthen administration cortisol is necessary or not.

Methodology: We performed a retrospective data analysis of 492 SSTs performed on adult patients in a tertiary referral teaching hospital in Ireland.

Prevalence and course of disease after lung resection in primary ciliary dyskinesia: a cohort & nested case-control study.

Background: Lung resection is a controversial and understudied therapeutic modality in Primary Ciliary Dyskinesia (PCD). We assessed the prevalence of lung resection in PCD across countries and compared disease course in lobectomised and non-lobectomised patients.

Methods: In the international iPCD cohort, we identified lobectomised and non-lobectomised age and sex-matched PCD patients and compared their characteristics, lung function and BMI cross-sectionally and longitudinally.

Validation of pediatric health-related quality of life instruments for primary ciliary dyskinesia (QOL-PCD).

Rationale: Having developed the first disease-specific, health-related quality of life (HRQoL) instruments for children with primary ciliary dyskinesia (PCD), we aimed to assess the psychometric performance of quality of life (QOL)-PCD child, adolescent, and parent-proxy versions in terms of reliability and validity across cross-cultural settings and caring for patients with this rare disease.

Methods: Children (n = 71), adolescents (n = 85), and parents (n = 68) from multiple centers in the UK and North America completed age-appropriate QOL-PCD and generic QOL measures: pediatric QOL inventory, COPD assessment test (CAT), and Sino-Nasal Outcome Test 20. Total of 13 children, 13 parents, and 17 adolescents repeated QOL-PCD 10 to 14 days later to assess test-retest reliability.

Translation of the quality-of-life measure for adults with primary ciliary dyskinesia and its application in patients in Brazil.

Primary ciliary dyskinesia (PCD) is a genetic disorder that is typically inherited in an autosomal recessive manner. It is clinically characterized by recurrent respiratory infections. However, its repercussions for patient quality of life should not be overlooked.

EED and EZH2 constitutive variants: A study to expand the Cohen-Gibson syndrome phenotype and contrast it with Weaver syndrome.

Overgrowth-intellectual disability (OGID) syndromes are characterized by increased growth (height and/or head circumference ≥+2 SD) in association with an intellectual disability. Constitutive EED variants have previously been reported in five individuals with an OGID syndrome, eponymously designated Cohen-Gibson syndrome and resembling Weaver syndrome. Here, we report three additional individuals with constitutive EED variants, identified through exome sequencing of an OGID patient series.

Rates of abnormal aldosterone/renin ratio in African-origin compared to European-origin patients: A retrospective study.

Introduction: The aldosterone/renin ratio is the initial screening test for primary hyperaldosteronism (PHA), but little data exists regarding ethnic variations in this.

Methods: Following clinical observation of a high prevalence of abnormal aldosterone/renin ratio (ARR) in patients of African-origin, we retrospectively reviewed all ARR measurements in a single centre over 10 years. Rates of hypokalaemia, intraventricular septal thickness (IVS, by echocardiography) and adrenal imaging were recorded when available.

Nurses' Use of Appropriate Needle Sizes When Administering Intramuscular Injections.

Background: In cases where patients are overweight or obese, administration of intramuscular medications can be ineffective due to inappropriate sizes of needles used. This study investigated whether the size of needles used to administer intramuscular injections is appropriate for patients on the basis of their weight or body mass index.

Method: This retrospective review examined 100 instances of intramuscular injection on a 50-bed ward.