Practice Patterns and Challenges in Managing Inherited Retinal Diseases across Asia-Pacific: A Survey from the APIED Network.

PURPOSE: The objective of this paper is to shed light on the current landscape of genotyping practices, phenotyping practices and availability of essential vision rehabilitation management for inherited retinal diseases (IRD) in the Asia-Pacific (APAC) Region. METHODS: The 62-item questionnaire was distributed electronically via email. The questions covered five domains: (1) structure of the IRD service and registry/database; (2) genotyping practices; (3) genetic counselling; (4) deep phenotyping practices; (5) low-vision rehabilitation services. RESULTS: The survey was completed by 36 of 45 centres in twelve countries and regions in APAC. Among these centres, 42% reported managing more than 1000 patients. Notably, 39% of centres lack an IRD database or registry, and 44% of centres have tested less than one-quarter of their IRD patients. The majority of centres (67%) do not have genetic counsellors. While there was consistency in the imaging-based investigations, there was marked heterogeneity for functional testing using electrophysiology and formal perimetry. Only 34% of centres confirmed the availability of access to low-vision assistive devices. CONCLUSIONS: This study reveals several critical gaps in managing IRDs in the APAC region. These include the lack of IRD database/registry in one-third of centres, a substantial proportion of patients remaining genetically undiagnosed, and limited availability of genetic counsellors. The findings also underscore a need to harmonise investigations for evaluating retinal function and identify areas for improvement in the provision of low-vision rehabilitation services.

Counselling sessions for patients in contact isolation due to MDROs improve informedness and reduce dissatisfaction.

BACKGROUND: The spread of multidrug-resistant organisms (MDROs) is a critical health issue. Isolation measures imposed to prevent transmission may result in adverse psychological effects among affected patients. This emphasises the need for better communication and information to improve their hospital experience and mental well-being as well as to prevent inadequate treatment. AIM: The present study examines whether tailored counselling sessions during contact isolation can enhance patients' understanding of their situation concerning the significance of their MDRO status and enhance their well-being. METHODS: A pre-post-intervention study was conducted in a German tertiary care hospital in which N = 64 patients who were isolated due to MDROs received tailored counselling. The counselling included information about MDROs, the reason for hospital isolation measures, and appropriate behaviour during and after hospitalisation. Participants completed questionnaires before and after the counselling sessions to assess its impact on their informedness, patient (dis)satisfaction and well-being measures. FINDINGS: Prior to the counselling session, patient dissatisfaction was associated with anxiety and inadequate informedness about MDROs. After the counselling, patients reported a significantly improved comprehension of their MDROs-related situation and a notable decrease in dissatisfaction with their hospital situation, primarily attributed to the acquired information. CONCLUSION: This is the first German study to show how improved information about MDROs impacts patient satisfaction in hospitals. The findings stress the crucial need for improving healthcare workers' interaction and communication with patients affected by MDROs.

Incidental finding of a BRCA2 variant following whole genome sequencing to molecularly diagnose bilateral congenital cataracts.

A male patient in his 20s with a history of bilateral congenital cataracts and nystagmus presented to the genetic eye disease clinic at Moorfields Eye Hospital to enquire about genetic testing for family decision-making and access to preimplantation genetic testing. He had a history of lensectomy with best-corrected visual acuities of logMAR 0.60 and 1.00 in the right and left eye. Whole genome sequencing (WGS) was conducted, which included targeted analysis of a panel of 115 lens-related genes and incidental findings, for which patients are unable to opt-out. Genetic testing identified the causative variant c.134T>C (p.Leu45Pro) in the CRYGC gene. A pathogenic variant in BRCA2 was also identified as a secondary finding. This was unexpected given the absence of a strong family history of breast or ovarian cancer. This case illustrates the importance of genetic counselling and informing patients about the implications of incidental findings that arise from WGS.

Thiamine-responsive megaloblastic anaemia in a young adult with acute pancytopenia.

Thiamine-responsive megaloblastic anaemia (TRMA) is a rare autosomal recessive disorder characterised by the clinical triad of megaloblastic anaemia, sensorineural hearing loss and diabetes mellitus (DM) in young patients. We present a case of a young man with type 1 DM who presented with pancytopenia of unclear aetiology, initially attributed to a COVID-19 infection. After obtaining a bone marrow biopsy and pursuing genetic testing, two pathogenic variants of the SLC19A2 gene consistent with TRMA were discovered in this patient. Treatment with 100 mg of thiamine oral supplementation daily led to the complete resolution of his pancytopenia. It is important to consider a genetic cause of pancytopenia in a young person. Early recognition and diagnosis of TRMA can be life-altering given early treatment can reduce insulin requirements and resolve anaemia.

Galactosialidosis presenting as non-immune hydrops.

Hydrops fetalis is an abnormal accumulation of fluid in two or more foetal compartments which is easily detected using prenatal ultrasonography. It can be categorised into immune and non-immune. The non-immune hydrops can result from various aetiologies, including cardiovascular, respiratory, genitourinary infections, chromosomal anomalies and metabolic causes. The metabolic causes, including lysosomal storage disorders (LSD), are increasingly being recognised as the causes of non-immune hydrops. The hydrops fetalis associated with metabolic disorders is usually severe with huge ascites, hepatosplenomegaly, thick skin, renal abnormalities, increased nuchal translucency, renal abnormalities and skeletal deformities. In this report, we describe a case of LSD, that is, galactosialidosis presenting as non-immune hydrops and its diagnosis. In utero diagnosis of the disorder without an index case is challenging. The definitive diagnosis is important for planning and management of future conceptions.

Awareness is not enough: Developing competencies in behaviour change counselling for obesity management.

Background: This study describes the development and evaluation of a competency based training program in behaviour change counselling for obesity management. This was a real world study attempting to obtain evidence on the learning experience; specifically, achievement of level of competency as well as personal experiences of the integration of skills learned into practice. Methods: This was a training effectiveness study involving a total of 28 evaluable licenced healthcare providers providing obesity care services. The design for this study is pre-experimental; specifically a one-group post-test only quasi-experimental design.Based on previous work developing a competency-based model of behaviour change counselling (developing change-based relationships, assessing and promoting readiness to change, implementing behaviour modification when ready, and addressing psychosocial determinants of behaviour) we report on training outcomes; specifically, the level of competency achieved in the various skill components of the intervention model. The model of training was based on corrective feedback, the development of peer-based learning and the creation of a mindmap to guide adaptation of interventions to the unique characteristics of individuals with obesity. Quantitative data on competency of components skills and qualitative information on the experience of training were used to evaluate the program. Results: Objective assessment of skill competency post training demonstrated moderate to high skill in all aspects of behaviour change counselling. Learners reported frequent use of skills in clinical practice, particularly change-based relationships and readiness assessment/intervention. Qualitative interviews confirmed the value to learners in creating a safe place for corrective feedback, the development of the mindmap concept and the opportunity to teach back learned skills to peers. Conclusion: Provision of competency-based behaviour change counselling in obesity management is critical to support the reformulation of obesity as a chronic disease and to be an important adjunct to medical/surgical interventions. In this paper, we have demonstrated the value of an intensive training program for obesity providers.

Genetics of female and male infertility.

Infertility is defined as the inability to conceive within one year of unprotected intercourse, and the causes are equally distributed between both sexes. Genetics play a crucial role in couple infertility and respective diagnostic testing should follow available guidelines. Appropriate tiered genetic analyses require comprehensive physical examination of both partners in an infertile couple. A wide range of chromosomal and monogenic variants can be the underlying genetic cause of infertility in both women and men. Accurate clinical phenotyping, together with identification of the genetic origin, helps to recommend the proper treatment and to counsel couples on the success rates and potential risks for offspring.

Randomised Controlled Trial for the Evaluation of the Efficacy of the IDA's "Living Well" Online Counselling Tool in First-Time Adult Users with Hearing Loss.

Effective management of hearing loss through the use of modern hearing aids significantly improves communication and the quality of life for individuals experiencing auditory impairment. Complementary counselling of patients with hearing loss who will be fitted with hearing aids for the first time should be evidence-based and adapted to their individual needs. To date, several counselling protocols and tools have been developed. The aim of this randomised controlled trial study was to investigate the efficacy of the application of the IDA's "Living Well" counselling tool in first-time hearing aid users in terms of the degree of their hearing related handicap (using the Hearing Handicap Inventory (HHI)), their communication coping strategies (using the Communication Profile for the Hearing Impaired (CPHI)) and their overall satisfaction of the hearing aids (using a Likert scale). Both groups (the IDA and the control group) were fitted with hearing aids and received counselling for their hearing aids by the same audiologist. The IDA group attended an additional counselling session about communication coping strategies with the use of the "Living Well" tool. Both groups' participants were seen for their hearing aid fittings 4-6 weeks, 3 and 6 months after their fitting when the HHI and the CPHI were measured. Although there was not a statistically significant difference between the two groups for the primary and secondary outcomes, the IDA group did show a more consistent improvement of their HHI score and less frequent use of maladaptive strategies. The "Living Well" counselling tool proved to be a favourably received and helpful counselling tool in first-time hearing aid users.

Dietary counseling plus omega-3 supplementation in the treatment of generalized anxiety disorder: results of a randomized wait-list controlled pilot trial (the 'EASe-GAD Trial').

OBJECTIVES: Clinical evidence suggests that nutrition interventions can significantly improve symptoms of major depressive disorder; however, the effect on clinical anxiety symptoms in individuals with anxiety disorders has not been studied. The primary objective of the present study was to assess the feasibility and acceptability of a nutrition intervention. The secondary objectives included assessing changes in anxiety symptom severity, diet quality, self-efficacy, mindful eating, quality of life, and biomarkers. METHODS: This study was a randomized, wait-list controlled pilot trial delivering a 12-week, biweekly dietary counseling intervention and omega-3 supplementation to 50 adult women with generalized anxiety disorder. Questionnaires and blood work were completed at baseline, after the waiting period, and after the intervention. RESULTS: 443 individuals expressed interest within eight months; 50 met the criteria for enrollment. The mean number of sessions attended was 6.4. Final questionnaires were completed by 46 participants. Eighty-four percent of participants strongly agreed with the statement 'My experience during this study was positive'. The mean anxiety symptom severity score in the intervention group was 26.2 (95% CI 22.94-29.48) at baseline and 11.0 (95% CI 8.05-13.87) at week 12. The mean diet quality score was 7.2 (95% CI 6.32-8.10) and 10.5 (95% CI 9.55-11.49) at baseline and week 12, respectively. Among the waitlist participants, the mean baseline anxiety score was 29.3 (95% CI 24.73-33.91) and 26.8 (95% CI 22.09-31.56) at week 12. DISCUSSION: This study was feasible and acceptable. Participation in the intervention was associated with a decrease in anxiety symptoms. These findings lay the foundation for large-scale studies. Trial registration: ClinicalTrials.gov NCT05573672.

Response Patterns and Behavior of Seropositive Blood Donors: A Comprehensive Analysis.

Background Blood transfusion services are vital in healthcare, ensuring a steady and safe supply of blood for patients in need. Identifying seropositive blood donors and understanding their response patterns and behaviors are critical for improving the safety and efficacy of blood transfusion practices. Aim Our study aims to determine the response rate and pattern of blood donors who test reactive for transfusion-transmitted infections (TTIs) and to understand the attitudes of reactive blood donors toward post-donation notification, follow-up, and counseling. Materials and methods Our study is retrospective audit analyzing the data record for a period of 24 months from October 2021 to October 2023 in the transfusion medicine department of a tertiary care hospital in southern India. All donations were screened for hepatitis B, hepatitis C, HIV, malaria, and syphilis. Results Of the total 8,276 donations during the study period, 117 (1.41%) were reactive for various TTIs. The highest prevalence was hepatitis B (0.61%), followed by hepatitis C (0.38%), then HIV (0.22%) and syphilis (0.14%). Of all the TTI reactive donors, 82 donors (70%) responded after communication, and the remaining 30% could not be contacted by any mode of communication. The most common reason for non-communication was the fabricated postal address given by the donors. Of the donors approached, 57 (48.7%) reinstated to our blood bank for further counseling and specific treatment. The donor's busy schedule and out-of-city residence were the main reasons for non-compliance with the follow-up protocol. Conclusion Informing donors of their serological status and providing post-donation counseling are crucial elements of blood transfusion protocol. Necessary knowledge about TTIs are to be instilled to the donors during the blood collection procedure. Moreover, its crucial for the donor to provide accurate demographic details aiding follow up and easy access during times of managing blood inventory.

[Genetic diagnostics of mental health disorders in adulthood]. / Genetische Diagnostik bei psychischen Erkrankungen im Erwachsenenalter.

This review article provides insights into the role of genetic diagnostics in adult mental health disorders. The importance of genetic factors in the development of mental illnesses, from rare genetic syndromes to common complex genetic disorders, is described. Current clinical characteristics that may warrant a genetic diagnostic work-up are highlighted, including intellectual disability, autism spectrum disorders and severe psychiatric conditions with specific comorbidities, such as organ malformations or epilepsy. The review discusses when genetic diagnostics are recommended according to current guidelines as well as situations where they might be considered even in the absence of explicit guideline recommendations. This is followed by an overview of the procedures and the currently used diagnostic methods. Current limitations and possible developments in the field of genetic diagnostics in psychiatry are discussed, including the fact that, for many mental health conditions, genetic testing is not yet part of standard clinical practice; however, in summary genetic causes should be considered more frequently in certain clinical constellations, and genetic diagnostics and counselling should be offered where appropriate.

What do women with epilepsy know about pregnancy?

BACKGROUND:  Understanding the intersection of epilepsy and pregnancy, including knowledge gaps and healthcare access for women with epilepsy (WWE), is critical. This study evaluated WWE knowledge gaps and information needs concerning epilepsy's impact on their sexual and reproductive health during pregnancy and examined healthcare system factors affecting their access to information, aiming to identify areas for improvement in educational and healthcare strategies to enhance health management for WWE. METHODS:  From July 2022 to June 2023, 111 WWE aged 18 to 40 years were recruited from the family medicine and internal medicine outpatient departments at Steve Biko Academic Hospital, Tembisa Tertiary Hospital (TTH), and Kalafong Hospital. Interviews assessed various aspects related to epilepsy in pregnancy and contraceptive use. RESULTS:  The study found strong links between WWE, their demographics, and their awareness of pregnancy-related epilepsy issues. Participants from TTH showed notably higher awareness (85.5%) of risks from epilepsy and AED during pregnancy (p  0.05). Age and education significantly influenced pregnancy planning and understanding of medication risks. Younger women (20-25 years) were more inclined towards future pregnancies, and those with more education were better informed about medication risks (p  0.05); and 68.5% had received counselling on AED and contraceptive interactions, yet only 16.2% knew AED could reduce contraceptive effectiveness. CONCLUSION:  The study reveals significant knowledge gaps in WWE regarding the impact of epilepsy and AED on pregnancy, suggesting tailored educational and counselling initiatives to improve WWE health outcomes and quality of life, advancing chronic disease management and public health objectives.Contribution: The study highlights substantial knowledge gaps in epilepsy during pregnancy among WWE, urging tailored counselling and information to empower informed decisions.

An approach to persons who are not willing to engage in behavioural change.

With its unique position, primary health care (PHC) can provide health promotion and prevention services, including lifestyle behavioural counselling. Unhealthy lifestyle behaviours are very prevalent among patients attending PHC, with many patients unwilling to change or in the precontemplation stage. While patients in the contemplation stage are better managed using the 5As approach of motivational interviewing counselling, those unwilling or not ready for change necessitate a different approach, such as the 5Rs of motivational interviewing (MI) counselling. The 5Rs MI approach holds promise in motivating unwilling individuals to consider embarking on the journey of behavioural change. The 5Rs approach is not a stand-alone checklist of tasks implemented in isolation but is best integrated within a theoretical behavioural change framework. Of the four health-related behavioural change theoretical frameworks that are frequently used, the transtheoretical stages of the change model are the most used. This continued professional development article provides a summary review of the literature on behavioural change theories as they apply to lifestyle health behaviour change and presents the 5Rs approach as a feasible and practical approach to manage patients who are unwilling to change or in the precontemplation stage. This offers a beacon of hope for improved patient outcomes in a PHC system saddled with high prevalence of modifiable unhealthy lifestyle behaviours.

Insights into maternal pertussis vaccination counselling: a qualitative study on perspectives and experiences among midwives and gynaecologists in the Netherlands.

BACKGROUND: Healthcare professionals (HCPs) play a significant role in the decision-making process of pregnant women on maternal vaccinations. Whereas a high proportion of HCPs discuss maternal vaccinations with pregnant women, confidence in discussing maternal vaccinations is lacking and HCPs experience inadequate training to discuss maternal vaccinations with pregnant women. Furthermore, different practical barriers might influence the consultation process, such as lack of time. More studies on the barriers, as well as facilitators, to discussing maternal vaccinations is needed and will help us to better understand and support HCPs in discussing maternal vaccinations. METHODS: This qualitative study involved semi-structured interviews with fourteen HCPs working as midwives or gynaecologists in the Netherlands. An integrated theoretical approach was used to inform data collection and analysis. Thematic analysis was conducted using inductive and deductive approaches. This study followed the COnsolidated criteria for REporting Qualitative research (COREQ) guidelines. RESULTS: The thematic analysis of the data pointed to the following five themes of HCP counselling: the consultation process, attitude, perceived norm, perceived control and improvement ideas. Most HCPs follow a similar approach in maternal pertussis vaccination consultations, beginning by assessing clients' understanding, providing basic information, and addressing questions. However, consultation timing and prioritization vary among HCPs. Challenges in consultations include client requests for clear advice, with HCPs trained to remain neutral, emphasizing client autonomy in decision-making. Most HCPs acknowledge the importance of their consultations in informing pregnant women about maternal pertussis vaccination. CONCLUSIONS: This study offers a confirmation of the awareness of the pivotal role of HCPs in informing pregnant women about the maternal pertussis vaccination. HCPs stress the importance of neutral counselling, enabling pregnant women to make well-informed decisions independently. Because of upcoming vaccine hesitancy nowadays, HCPs must be equipped with the knowledge and confidence to navigate difficult conversations. Continuous education and training might help to increase HCPs' confidence in handling difficult consultations. Additionally, making the information materials for pregnant women available in multiple languages and incorporating more visuals to enhance comprehension could support HCPs in reaching a broader group of pregnant women.

Nonsteroidal anti-inflammatory drug use by patients: Impact of modular educational training on pharmacists' questioning, counselling and risk assessments.

Background: Nonsteroidal anti-inflammatory drugs (NSAIDs)-related morbidity and mortality can be reduced through medication counselling and risk reduction. Objectives: This study evaluated the impact of short online modular NSAID training on the type and quality of questions asked, risk factors assessed, and counselling offered by community pharmacists to NSAID users. Methods: A cross-sectional questionnaire-guided survey conducted in Ibadan, Nigeria, among 87 pharmacists evaluated the frequency of counselling, NSAID risk factor assessment and barriers to risk assessment. Additionally, a before-and-after RCT was used to evaluate the impact of short online modular NSAID training for the intervention group (IG) on the type and quality of the questions asked, counselling provided, and risk assessed by the pharmacists. Eight standardised patients, aged 25-43 years, four at pre- and postintervention, presented four standardised scenarios at community pharmacies [IG, n = 22, control group (CG, n = 30)] to assess these outcomes. The quality of each outcome (questions asked, counselling offered and risk assessed) was classified as poor (0-≤20%), fair (>20-≤40%), moderate (>40 - ≤60%), or optimal (>60-100%). The data are presented with descriptive statistics. Results: The community pharmacists reported counselling patients on NSAID precautions (80-86%) and dosages (51-69%). Gastrointestinal bleeding risk was assessed by 61-89% of the pharmacists, and time constraints (39-42%) and patient impatience (47-75%) were some barriers to risk assessment. Online modular educational intervention significantly improved the types and quality of questions asked by pharmacists (CG: poor to fair, 16%-21%; IG: poor to moderate, 14%-45%), NSAID risk factors assessed (CG: poor to poor, 10%-9%; IG: poor to fair, 11%-27%) and counselling offered (CG: poor to poor, 6%-7%; IG: poor to fair, 6%-22%). Conclusions: Short online modular educational training on NSAIDs improved the types and quality of the questions asked, NSAID risk factors assessed, and counselling provided by community pharmacists to patients during consultations.

Reproductive decision-making of people living with cystic fibrosis and their partners: A systematic review of psychosocial and ethical considerations.

OBJECTIVES: As life expectancy for individuals living with cystic fibrosis (CF) has increased, many now reach adulthood and face important reproductive decisions with their partners. The aim of this systematic review was to assess the psychosocial and ethical considerations that influence the reproductive decision-making process of individuals living with CF and their partners. METHODS: Four databases (Web of science, Pubmed, CINAHL, Cochrane) were searched. Studies meeting inclusion criteria were analyzed using a thematic synthesis approach. RESULTS: Seven psychosocial and ethical themes related to reproductive decision-making were identified: 1) desire for a sense of 'normalcy', 2) (dis)approval of healthcare professionals, 3) possible impact on the 'future' child, 4) idea of good parenting, 5) possibility of transmitting the condition, 6) impact on health and personal well-being, and 7) role of non-CF partner and family/friends. CONCLUSIONS: The decision to have a child often originates from a typical desire to become a parent and is further guided by a sense of moral responsibility and the need for a solid partnership/collaborative network. PRACTICE IMPLICATIONS: Routine dialogue about reproductive health between individuals living with CF and their care teams is important, as these individuals depend on reliable, evidence-based information for informed reproductive decision-making. Our findings can guide healthcare professionals to effectively initiate these conversations.

A rapid evidence review of postnatal listening services for women following a traumatic or negative childbirth experience.

PROBLEM: Currently there is a lack of clear guidance to underpin postnatal listening services for women who have had a traumatic or difficult birth. BACKGROUND: Postnatal listening (or birth reflections) services are important to help women review their birth and ask questions about their care, but currently there is no clear guidance on how these services should be provided. AIM: To synthesise existing evidence on postnatal listening services for women following a traumatic or negative childbirth experience. METHODS: A rapid evidence review using four databases (PsycINFO, CINAHL, Medline, Web of Science), backward and forward chaining, and hand searches of previous systematic reviews. The Mixed Methods Appraisal tool was used to appraise the studies. Quantitative and qualitative data were synthesised into descriptive themes. FINDINGS: Database searches (n = 9,459 hits), backward and forward chaining and hand searching identified 27 articles for inclusion. Nineteen different services are described, evaluated as part of controlled trials (n = 16) or using quantitative and/or qualitative data (n = 8); three studies are audits of UK services. Findings are reported in 5 themes, 'Who provides the service?', 'Types and quality of care', 'Targeting the support', 'Timing and location', and 'Training and experiences of maternity staff'. DISCUSSION: The findings identify who, how, when, where and what should be provided within postnatal listening services. Services should be flexibly provided by trained maternity staff via active listening, empathy, and a non-judgmental approach. CONCLUSION: Further work is needed to develop an optimum training programme, to identify key components of effectiveness, and to ensure these services are culturally relevant.

Tailoring an antihyperglycaemic regimen to a monogenic diabetes variant.

Monogenic diabetes mellitus (MDM) is an under-recognised entity that can be effectively treated with personalised therapies tailored to specific variants. Current guidelines suggest considering MDM in antibody-negative, C peptide-retaining patients with impaired glucose metabolism, particularly those with a significant family history and healthy body mass index. Here, we present a case of a patient with an MDM phenotype, treated with otherwise typical escalations in therapy but with adverse side effects and ultimately inadequate glycaemic control. He was subsequently found to have a unique heterozygous genotypic variant, guiding management decisions that have resulted in a now-stable medication regimen with excellent glycaemic control over the ensuing 3 years. Given that MDM has been predicted to account for up to 5% of all diabetes cases, it is important for clinicians to be cognisant of specific presentation features and available screening modalities in order to confirm and treat this diagnosis with the greatest efficacy.