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45 pages, 5594 KiB  
Article
Integrated Medical and Digital Approaches to Enhance Post-Bariatric Surgery Care: A Prototype-Based Evaluation of the NutriMonitCare System in a Controlled Setting
by Ruxandra-Cristina Marin, Marilena Ianculescu, Mihnea Costescu, Veronica Mocanu, Alina-Georgiana Mihăescu, Ion Fulga and Oana-Andreia Coman
Nutrients 2025, 17(15), 2542; https://doi.org/10.3390/nu17152542 (registering DOI) - 2 Aug 2025
Abstract
Introduction/Objective: Post-bariatric surgery patients require long-term, coordinated care to address complex nutritional, physiological, and behavioral challenges. Personalized smart nutrition, combining individualized dietary strategies with targeted monitoring, has emerged as a valuable direction for optimizing recovery and long-term outcomes. This article examines how traditional [...] Read more.
Introduction/Objective: Post-bariatric surgery patients require long-term, coordinated care to address complex nutritional, physiological, and behavioral challenges. Personalized smart nutrition, combining individualized dietary strategies with targeted monitoring, has emerged as a valuable direction for optimizing recovery and long-term outcomes. This article examines how traditional medical protocols can be enhanced by digital solutions in a multidisciplinary framework. Methods: The study analyzes current clinical practices, including personalized meal planning, physical rehabilitation, biochemical marker monitoring, and psychological counseling, as applied in post-bariatric care. These established approaches are then analyzed in relation to the NutriMonitCare system, a digital health system developed and tested in a laboratory environment. Used here as an illustrative example, the NutriMonitCare system demonstrates the potential of digital tools to support clinicians through real-time monitoring of dietary intake, activity levels, and physiological parameters. Results: Findings emphasize that medical protocols remain the cornerstone of post-surgical management, while digital tools may provide added value by enhancing data availability, supporting individualized decision making, and reinforcing patient adherence. Systems like the NutriMonitCare system could be integrated into interdisciplinary care models to refine nutrition-focused interventions and improve communication across care teams. However, their clinical utility remains theoretical at this stage and requires further validation. Conclusions: In conclusion, the integration of digital health tools with conventional post-operative care has the potential to advance personalized smart nutrition. Future research should focus on clinical evaluation, real-world testing, and ethical implementation of such technologies into established medical workflows to ensure both efficacy and patient safety. Full article
(This article belongs to the Section Nutrition and Public Health)
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16 pages, 1424 KiB  
Article
Clinical Insights Regarding the Targeted Chromosomal Region for Mosaicism and Aneuploidy in Embryos in IVF Treatment and Literature Review
by Bogdan Doroftei, Alexandra Savuca, Nicoleta Anton, Radu Maftei, Ana-Maria Cretu, Anca Roxana Bivoleanu, Mara Doroftei and Ciprian Ilea
Diagnostics 2025, 15(11), 1375; https://doi.org/10.3390/diagnostics15111375 - 29 May 2025
Viewed by 671
Abstract
Background: Given the common occurrence of mosaicism and aneuploidy in IVF embryos, our study aimed to retrospectively identify whether specific chromosomal regions or individual chromosomes are predominantly affected in our clinic. Understanding these patterns can improve embryo selection, reduce miscarriage risks, and [...] Read more.
Background: Given the common occurrence of mosaicism and aneuploidy in IVF embryos, our study aimed to retrospectively identify whether specific chromosomal regions or individual chromosomes are predominantly affected in our clinic. Understanding these patterns can improve embryo selection, reduce miscarriage risks, and enhance genetic counseling. At the same time, due to the limited data on potential comorbidities in affected children, our findings aim to support both clinicians and patients in making informed decisions. Methods: The retrospective clinical study included 461 PGT-A biopsies from our clinic database (September 2023–December 2024) to determine whether specific chromosome regions or individual chromosomes (C) are more likely to be mosaic or aneuploid. Results: Among the 461 embryos analyzed in our clinic, the incidence rate of mosaicism was 16.70% whereas the aneuploidy rate was 32.10%. Our results showed that mosaicism tends to target a specific chromosomal region in embryos, namely the chromosome 1 to 9 region, in particular chromosomes 7, 1, 9. On the other hand, aneuploidy targets the chromosomal region chromosome 16 to 22, particularly chromosomes 16, 19, and 22. Conclusions: Our data suggest that mosaicism and aneuploidy affect the genome in an uneven manner and are often concentrated in specific chromosomal regions, with mosaicism primarily affecting the C1–C9 region and aneuploidy targeting the C16–C22 region. These data highlight the need for further research to understand these patterns and the impact of IVF methods on chromosomal targeting. Comparative studies could also be helpful in genetic counseling by clarifying the implications of the levels of mosaicism in the newborn. Full article
(This article belongs to the Section Pathology and Molecular Diagnostics)
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10 pages, 973 KiB  
Review
Investigating the Role of B9D1 in Meckel–Gruber Syndrome: A Case Report and Comprehensive Literature Review
by Gianluca Campobasso, Ludovica Mercuri, Francesca De Razza, Antonella Cosentino, Marta Mele, Antonella Monittola, Carmen Congedo, Maria Chiara Calò, Caterina Scalcione, Alessandro D’Amuri, Salvatore Mauro and Serena Lattante
Genes 2025, 16(6), 643; https://doi.org/10.3390/genes16060643 - 27 May 2025
Viewed by 519
Abstract
Meckel–Gruber syndrome (MKS) is a rare autosomal recessive lethal ciliopathy, characterized by occipital encephalocele, cystic kidneys, and postaxial polydactyly, caused by mutations in different genes. Its significant genetic heterogeneity along with its clinical overlap with other ciliopathies makes early diagnosis essential for clinical [...] Read more.
Meckel–Gruber syndrome (MKS) is a rare autosomal recessive lethal ciliopathy, characterized by occipital encephalocele, cystic kidneys, and postaxial polydactyly, caused by mutations in different genes. Its significant genetic heterogeneity along with its clinical overlap with other ciliopathies makes early diagnosis essential for clinical management, accurate genetic counseling, and informing future reproductive decisions. Objectives: This study aims to describe a prenatally diagnosed case carrying a homozygous B9D1 variant and to examine the current literature on all variants reported in this gene associated with MKS. Methods: We comprehensively review the current literature on pathogenic B9D1 variants implicated in this syndrome. Additionally, we describe a case, presenting multiple congenital anomalies suggestive of MKS, genetically diagnosed by clinical exome sequencing on chorionic villi. Results: Occipital encephalocele and polycystic kidneys were revealed via ultrasound, thus suggesting MKS. Genetic testing identified the homozygous c.151T>C (p.Ser51Pro) variant in the B9D1 gene, inherited from healthy parents. Conclusions: This case supports the pathogenicity of the homozygous B9D1 c.151T>C variant and underscores the importance of timely prenatal assessment and targeted genetic testing for the detection of MKS risk in heterozygous subjects, enabling appropriate pregnancy management and informed reproductive choices. Full article
(This article belongs to the Section Human Genomics and Genetic Diseases)
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19 pages, 4065 KiB  
Article
Patient Empowerment Among Children and Adolescents with Inflammatory Bowel Disease (IBD) and Parents of IBD Patients—Use of Counseling Services and Lack of Knowledge About Transition
by Kalina Kaul, Stefan Schumann, Jakob Felder, Jan Däbritz and Jan de Laffolie
Children 2025, 12(5), 620; https://doi.org/10.3390/children12050620 - 10 May 2025
Viewed by 487
Abstract
Background: Children and adolescents with pediatric inflammatory bowel diseases (PIBD) face significant challenges, including emotional stress, social isolation, and interrupted education due to symptoms. Effective counseling and education empower these young patients and their families to actively participate in healthcare. This paper [...] Read more.
Background: Children and adolescents with pediatric inflammatory bowel diseases (PIBD) face significant challenges, including emotional stress, social isolation, and interrupted education due to symptoms. Effective counseling and education empower these young patients and their families to actively participate in healthcare. This paper investigates the IBD needs analysis (CEDNA), focusing on counseling and transition services. Methods: The Study Group distributed questionnaires to PIBD patients and the parents of children and adolescents with PIBD across Germany, with all responses provided anonymously. We conducted a subgroup analysis based on patient age and time since diagnosis, as well as aspects of regional distribution and city size. Parents’ responses were analyzed by corresponding age groups to facilitate comparison with the patients’ responses. Results: From October 2021 to April 2022, 1158 questionnaires (patients 38.9%, n = 450; parents 61.1%, n = 708) were completed. In the group of 16–17-year-old patients, only 14.1% (n = 239) feel well informed about transition programs (parents 6.7% of n = 360). Depending on the disease duration, 2.1% to 6.9% of the patients surveyed (n = 292) feel well informed about PIBD (parents 3.3% to 7.5%, n = 361). Nutritional counseling is the most requested support service (patients 49.2%, n = 382; parents: service used for their children 41.9%, n = 578; parents: service used for themselves 46.1%, n = 575). Conclusions: PIBD patients, especially aged 12–17, lack knowledge and preparation for transition to adult care. While general PIBD management awareness is fair, targeted educational efforts are necessary. Trustworthy information sources and early, tailored counseling services could enhance transition experiences and improve long-term disease management and patient outcomes. Full article
(This article belongs to the Special Issue Bowel Management in Paediatric Colorectal Disease)
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12 pages, 671 KiB  
Article
HIV Viral Re-Suppression on Second-Line ART in Southern Zimbabwe
by Kudakwashe Musomekwa and Brian van Wyk
Int. J. Environ. Res. Public Health 2025, 22(5), 730; https://doi.org/10.3390/ijerph22050730 - 2 May 2025
Viewed by 1495
Abstract
The national prevalence of HIV among adults in Zimbabwe was 10.4% in 2023, while the HIV prevalence in Bulawayo Metropolitan Province was 11.7%. The country achieved the UNAIDS Fast Track goals of 95-95-95 ahead of the 2030 target, by reporting an ART coverage [...] Read more.
The national prevalence of HIV among adults in Zimbabwe was 10.4% in 2023, while the HIV prevalence in Bulawayo Metropolitan Province was 11.7%. The country achieved the UNAIDS Fast Track goals of 95-95-95 ahead of the 2030 target, by reporting an ART coverage of 97.0% and a viral suppression rate of 95.0%. As the number of people on ART continues to grow, it is expected that the number of patients failing current first-line non-nucleoside treatment will increase. However, access to second-line treatment regimens remains very limited in resource-poor settings such as Zimbabwe. It is therefore imperative to review treatment success for persons on second-line treatment. A retrospective cohort analysis was conducted using routinely collected clinical and demographic data from 315 participants who had been on a second-line ART regimen in Bulawayo for at least six months between 2015 and 2020. Statistical analyses were conducted to identify risk factors for viral suppression using SPSS version 28. Viral suppression (68.6%) for adults was far below the target of 95%. After accounting for all other variables, baseline CD4 count (>200 c/µL) [AOR = 1.94 (1.05–3.61)], having no history of non-adherence on first-line ART [AOR = 3.88 (1.91–7.85)], drug switch within 12 months of failure [AOR = 4.13 (1.98–8.60)] and retention in care at 5 years [AOR = 6.35 (2.56–15.76)] predicted viral re-suppression. The second-line (rescue) regimen has not achieved the expected success in reversing initial viral non-suppression (due to late presentation and poor adherence), despite enhanced adherence counselling. Timely switching is effective when done within 12 months and coupled with persistent engagement in care. We recommend improved methods, such as enhanced adherence counselling for behaviour change to improve viral re-suppression rates, especially for those on with a history of poor adherence and virologic non-suppression. Full article
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13 pages, 1973 KiB  
Article
Knowledge, Perceptions, and Practices of Primary Care Physicians on HIV and PrEP: Challenges and Principles of PrEP Use
by Aleksandra Kozieł, Igor Domański, Natalia Kuderska, Bartosz Szetela, Aleksandra Szymczak and Brygida Knysz
Healthcare 2025, 13(8), 854; https://doi.org/10.3390/healthcare13080854 - 9 Apr 2025
Viewed by 655
Abstract
Background/Objective: HIV remains a significant public health issue in Poland, with many diagnoses occurring at advanced stages due to the limited access to diagnostic tools in primary healthcare (PHC). General practitioners are crucial for early detection, but barriers such as the absence [...] Read more.
Background/Objective: HIV remains a significant public health issue in Poland, with many diagnoses occurring at advanced stages due to the limited access to diagnostic tools in primary healthcare (PHC). General practitioners are crucial for early detection, but barriers such as the absence of rapid testing in PHC settings hinder a timely diagnosis. This study evaluates primary care physicians’ knowledge of HIV diagnostics and pre-exposure prophylaxis (PrEP), focusing on their role in improving prevention and early detection. Material and Methods: This study used anonymous surveys distributed online and on paper to physicians in randomly selected primary care facilities across four Polish voivodeships. The data were analysed statistically to assess their knowledge, attitudes, and practices related to HIV diagnostics, rapid testing, and PrEP. Results: A total of 100 surveys were collected. A total of 83% of the physicians reported recommending HIV tests, although 17% had never done so, mainly among family medicine specialists. A total of 88% were aware of Voluntary Counselling and Testing Centres (VCTs), but 99% had never performed rapid HIV tests in their offices. Physicians with shorter professional experience (less than 10 years) demonstrated a significantly higher awareness of PrEP compared to that in those with longer experience (Fisher’s test p = 0.35). Conclusions: Primary care physicians play a crucial role in HIV prevention, but limited access to diagnostic tools and systemic support hampers their effectiveness. Targeted education and a comprehensive program for STI and HIV prevention are needed to improve prevention efforts and early detection. Full article
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17 pages, 764 KiB  
Review
How to Limit Interdialytic Weight Gain in Patients on Maintenance Hemodialysis: State of the Art and Perspectives
by Maurizio Bossola, Ilaria Mariani, Camillo Tancredi Strizzi, Carlo Pasquale Piccinni and Enrico Di Stasio
J. Clin. Med. 2025, 14(6), 1846; https://doi.org/10.3390/jcm14061846 - 9 Mar 2025
Viewed by 2427
Abstract
Background: Interdialytic weight gain (IDWG), defined as the accumulation of salt and water intake between dialysis sessions, is a critical parameter of fluid management and a marker of adherence to dietary and fluid restrictions in hemodialysis patients. Excessive IDWG has been strongly associated [...] Read more.
Background: Interdialytic weight gain (IDWG), defined as the accumulation of salt and water intake between dialysis sessions, is a critical parameter of fluid management and a marker of adherence to dietary and fluid restrictions in hemodialysis patients. Excessive IDWG has been strongly associated with increased cardiovascular risk, including left ventricular hypertrophy, cardiac dysfunction, and cerebrovascular complications. Additionally, it necessitates more aggressive ultrafiltration, potentially compromising hemodynamic stability, impairing quality of life, and escalating healthcare costs. Despite international guidelines recommending an IDWG target of <4–4.5% of body weight, many patients struggle to achieve this due to barriers in adhering to dietary and fluid restrictions. This review explores the current state-of-the-art strategies to mitigate IDWG and evaluates emerging diagnostic and therapeutic perspectives to improve fluid management in dialysis patients. Methods: A literature search was conducted in PubMed/MEDLINE, Scopus, and Web of Science to identify studies on IDWG in hemodialysis. Keywords and MeSH terms were used to retrieve peer-reviewed articles, observational studies, RCTs, meta-analyses, and systematic reviews. Non-English articles, case reports, and conference abstracts were excluded. Study selection followed PRISMA guidelines, with independent screening of titles, abstracts, and full texts. Data extraction focused on IDWG definitions, risk factors, clinical outcomes, and management strategies. Due to study heterogeneity, a narrative synthesis was performed. Relevant data were synthesized thematically to evaluate both established strategies and emerging perspectives. Results: The current literature identifies three principal strategies for IDWG control: cognitive–behavioral interventions, dietary sodium restriction, and dialysis prescription adjustments. While educational programs and behavioral counseling improve adherence, their long-term effectiveness remains constrained by patient compliance and logistical challenges. Similarly, low-sodium diets, despite reducing thirst, face barriers to adherence and potential nutritional concerns. Adjustments in dialysate sodium concentration have yielded conflicting results, with concerns regarding hemodynamic instability and intradialytic hypotension. Given these limitations, alternative approaches are emerging. Thirst modulation strategies, including chewing gum to stimulate salivation and acupuncture for autonomic regulation, offer potential benefits in reducing excessive fluid intake. Additionally, technological innovations, such as mobile applications and telemonitoring, enhance self-management by providing real-time feedback on fluid intake. Biofeedback-driven dialysis systems enable dynamic ultrafiltration adjustments, improving fluid removal efficiency while minimizing hemodynamic instability. Artificial intelligence (AI) is advancing predictive analytics by integrating wearable bioimpedance sensors and dialysis data to anticipate fluid overload and refine individualized dialysis prescriptions, driving precision-based volume management. Finally, optimizing dialysis frequency and duration has shown promise in achieving better fluid balance and cardiovascular stability, suggesting that a personalized, multimodal approach is essential for effective IDWG management. Conclusions: Despite decades of research, IDWG remains a persistent challenge in hemodialysis, requiring a multifaceted, patient-centered approach. While traditional interventions provide partial solutions, integrating thirst modulation strategies, real-time monitoring, biofeedback dialysis adjustments, and AI-driven predictive tools represent the next frontier in fluid management. Future research should focus on long-term feasibility, patient adherence, and clinical efficacy, ensuring these innovations translate into tangible improvements in quality of life and cardiovascular health for dialysis patients. Full article
(This article belongs to the Section Nephrology & Urology)
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8 pages, 581 KiB  
Article
Supporting Antenatal Counselling for Anticipated Preterm Births at the Limits of Viability in Non-Tertiary Centres
by Alessia Gallipoli, Kyong-Soon Lee and Vibhuti Shah
Children 2025, 12(3), 256; https://doi.org/10.3390/children12030256 - 20 Feb 2025
Viewed by 739
Abstract
Background: Presentations of preterm labour at <25 weeks of gestational age (GA) require timely evidence-based counselling and management to optimise outcomes and facilitate informed decisions. In non-tertiary centres, this counselling is often especially challenging. Objectives: (1) To develop a tool to support [...] Read more.
Background: Presentations of preterm labour at <25 weeks of gestational age (GA) require timely evidence-based counselling and management to optimise outcomes and facilitate informed decisions. In non-tertiary centres, this counselling is often especially challenging. Objectives: (1) To develop a tool to support counselling for preterm births at <25 weeks of GA, and (2) to refine and facilitate the utilisation of this tool and develop targeted supports through an understanding of challenges to providing counselling in non-tertiary centres. Methods: Perinatal risk factors and local outcome data were incorporated into a counselling tool. Semi-structured virtual interviews were conducted with participants with experience in counselling or receiving care at <25 weeks of GA in non-tertiary centres. Interviewees included transport team members, paediatricians, obstetricians, one family physician, and one parent. Analysis using interpretive description methodology was performed to identify themes in participant practice and experience. Results: A risk-based counselling tool was developed, including guidance for counselling discussions. Twenty-one interviews were completed. Practice challenges that were identified included a lack of updated knowledge on practices in tertiary centres, discomfort in providing counselling, variability in counselling content, and a variation in health care provider teams involved in counselling. All providers expressed a desire for further education in this area. Conclusions: Support for providers in non-tertiary centres in the counselling of periviable preterm families is much needed. The development of our practice tool targeted for non-tertiary centres provides an important step in this process. The next steps include responding to the expressed need from providers for education and training in the counselling and management of periviable preterm pregnancies. Full article
(This article belongs to the Special Issue Recent Advances in Maternal and Fetal Health (2nd Edition))
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22 pages, 1500 KiB  
Article
Molecular Review of Suspected Alport Syndrome Patients—A Single-Centre Experience
by Paulina Halat-Wolska, Elżbieta Ciara, Michał Pac, Łukasz Obrycki, Dorota Wicher, Katarzyna Iwanicka-Pronicka, Ewelina Bielska, Beata Chałupczyńska, Dorota Siestrzykowska, Grażyna Kostrzewa, Piotr Stawiński, Rafał Płoski, Mieczysław Litwin and Krystyna Chrzanowska
Genes 2025, 16(2), 196; https://doi.org/10.3390/genes16020196 - 4 Feb 2025
Cited by 1 | Viewed by 1668
Abstract
Background: Alport syndrome (AS) is a clinically and genetically heterogeneous glomerulopathy resulting from pathogenic variants in COL4A3, COL4A4, and COL4A5. Genetic diagnosis is increasingly being conducted using next-generation sequencing (NGS). Methods: Within eight years, we examined a group of 247 Polish individuals [...] Read more.
Background: Alport syndrome (AS) is a clinically and genetically heterogeneous glomerulopathy resulting from pathogenic variants in COL4A3, COL4A4, and COL4A5. Genetic diagnosis is increasingly being conducted using next-generation sequencing (NGS). Methods: Within eight years, we examined a group of 247 Polish individuals and found in total 138 unrelated probands suspected with AS based on clinical course, laboratory findings, and/or family history, as well as the total of 109 family members. We applied a targeted NGS panel to identify the genetic spectrum of AS. Known and novel variants were revealed, and detailed evaluation was performed according to ACMG/AMP guidelines to classify them as pathogenic/likely pathogenic/VUS changes. Identified genotypes were compared with clinical manifestations: hematuria, proteinuria, chronic kidney disease, sensorineural hearing impairment, ocular abnormalities, and hypertension. Results: The molecular background was established in 109/138 probands. Overall, 79 different COL4A3-COL4A5 changes (56 known and 23 novel) were revealed. About 97% were SNVs, and only two COL4A5 CNVs were identified. In total, 11 recurrent COL4A3-COL4A5 variants were observed, including the most frequent COL4A5:p.Gly624Asp, accounting for 31% of X-linked AS. Conclusions: The use of NGS panel has shown considerable promise in the field of AS, increasing diagnostic rate to 79% and reducing time to diagnosis. The phenotype-driven gene panel, specific for genetic diseases in the pediatric population, is an affordable alternative to WGS and WES, offering comparable diagnostic efficacy and supporting its implementation as a first-line genetic test in rare diseases, including AS. Based on the obtained genotype–phenotype correlation, we assessed that NGS allows us to avoid invasive renal biopsy in AS diagnosis. It provides AS confirmation/exclusion, atypical AS identification, symptomatic/asymptomatic monoallelic COL4A3-COL4A5 carrier (especially COL4A5 females) determination, and inheritance pattern establishment. AS diagnosis confirmation enables clinical course prediction and is crucial for the early introduction of renoprotective treatment with renin–angiotensin–aldosterone system blockade, aimed at slowing the disease progression and estimating the risk in family members, which is important for genetic counselling. Full article
(This article belongs to the Section Human Genomics and Genetic Diseases)
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17 pages, 571 KiB  
Article
Risk-Prioritised Versus Universal Medical Nutrition Therapy for Gestational Diabetes: A Retrospective Observational Study
by Roslyn A. Smith, Madeline Boaro, Ka Hi Mak and Vincent Wong
Nutrients 2025, 17(2), 294; https://doi.org/10.3390/nu17020294 - 15 Jan 2025
Viewed by 1495
Abstract
Background: The optimal application of medical nutrition therapy (MNT) in treating gestational diabetes remains uncertain. MNT involves individualised nutrition assessment and counselling, which is labour-intensive and is not the sole type of intervention offered by clinical dietitians. Objective: To determine whether pregnancy outcomes [...] Read more.
Background: The optimal application of medical nutrition therapy (MNT) in treating gestational diabetes remains uncertain. MNT involves individualised nutrition assessment and counselling, which is labour-intensive and is not the sole type of intervention offered by clinical dietitians. Objective: To determine whether pregnancy outcomes differed for individuals with gestational diabetes who were offered MNT on a risk-prioritised (RP) versus universal basis. Methods: Observational data from two cohorts of individuals who were offered MNT only if they met the high-risk criteria following general group-based dietary education (RP1, n = 369; RP2, n = 446) were compared with a baseline cohort who were universally offered at least one MNT consultation (UM, n = 649). The RP1 cohort were seen during community-wide COVID-19 restrictions in 2021, while RP2 were seen after restrictions had lifted in 2022. Furthermore, the RP approach primarily utilised telemedicine, while the UM approach was delivered in person. Results: MNT consultations halved under the RP approach (59 vs. 119 sessions per 100 diagnoses for RP2 vs. UM) and saved more than 20 h of dietitian time per 100 diagnoses (95 vs. 73 h for RP2 vs. UM). No significant increases were observed (p < 0.05) for any pregnancy outcomes in the RP cohorts compared with the UM cohort, including usage of diabetes medications, maternal weight gain below and above target, early deliveries, induced deliveries, emergency caesarean sections, large- and small-for-gestational-age (SGA) infants, infant macrosomia, neonatal hypoglycaemia and neonatal intensive care admissions. The use of both basal insulin (27% vs. 33%, OR 0.62, 95% CI 0.46 to 0.84) and metformin (6% vs. 10%, OR 0.52, 95% CI 0.31 to 0.88) was lower in the RP1 cohort during pandemic restrictions compared with the UM cohort; however, these differences were not retained in the RP2 cohort. Additionally, there were fewer SGA infants under the RP approach, particularly for the RP2 cohort (6% vs. 11% for RP2 vs. UM, OR 0.55, 95% CI 0.34 to 0.89). Conclusions: Risk-prioritised MNT was a more efficient dietetic service approach to gestational diabetes than the universal MNT model, with comparable pregnancy outcomes. Similar approaches may represent a strategic way to address sustainable health service planning amidst the rising global prevalence of this condition. However, further research is needed to investigate consumer perspectives, wider service impacts and post-partum maternal and child health outcomes. Full article
29 pages, 1310 KiB  
Review
Pre-Type 1 Diabetes in Adolescents and Teens: Screening, Nutritional Interventions, Beta-Cell Preservation, and Psychosocial Impacts
by Brody Sundheim, Krish Hirani, Mateo Blaschke, Joana R. N. Lemos and Rahul Mittal
J. Clin. Med. 2025, 14(2), 383; https://doi.org/10.3390/jcm14020383 - 9 Jan 2025
Cited by 2 | Viewed by 3494
Abstract
Type 1 Diabetes (T1D) is a progressive autoimmune disease often identified in childhood or adolescence, with early stages detectable through pre-diabetic markers such as autoantibodies and subclinical beta-cell dysfunction. The identification of the pre-T1D stage is critical for preventing complications, such as diabetic [...] Read more.
Type 1 Diabetes (T1D) is a progressive autoimmune disease often identified in childhood or adolescence, with early stages detectable through pre-diabetic markers such as autoantibodies and subclinical beta-cell dysfunction. The identification of the pre-T1D stage is critical for preventing complications, such as diabetic ketoacidosis, and for enabling timely interventions that may alter disease progression. This review examines the multifaceted approach to managing T1D risk in adolescents and teens, emphasizing early detection, nutritional interventions, beta-cell preservation strategies, and psychosocial support. Screening for T1D-associated autoantibodies offers predictive insight into disease risk, particularly when combined with education and family resources that promote lifestyle adjustments. Although nutritional interventions alone are not capable of preventing T1D, certain lifestyle interventions, such as weight management and specific nutritional choices, have shown the potential to preserve insulin sensitivity, reduce inflammation, and mitigate metabolic strain. Pharmacological strategies, including immune-modulating drugs like teplizumab, alongside emerging regenerative and cell-based therapies, offer the potential to delay disease onset by protecting beta-cell function. The social and psychological impacts of a T1D risk diagnosis are also significant, affecting adolescents’ quality of life, family dynamics, and mental health. Supportive interventions, including counseling, cognitive-behavioral therapy (CBT), and group support, are recommended for managing the emotional burden of pre-diabetes. Future directions call for integrating universal or targeted screening programs within schools or primary care, advancing research into nutrition and psychosocial support, and promoting policies that enhance access to preventive resources. Advocacy for the insurance coverage of screening, nutritional counseling, and mental health services is also crucial to support families in managing T1D risk. By addressing these areas, healthcare systems can promote early intervention, improve beta-cell preservation, and support the overall well-being of adolescents at risk of T1D. Full article
(This article belongs to the Section Endocrinology & Metabolism)
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14 pages, 764 KiB  
Review
Pre-Pregnancy Counselling for Women with Rheumatoid Arthritis: A Guide on Risks, Evaluations, and Multidisciplinary Approaches
by Ioana Cristina Saulescu, Anca Maria Panaitescu, Nicolae Gică, Elena Grădinaru and Daniela Opris-Belinski
J. Clin. Med. 2025, 14(1), 114; https://doi.org/10.3390/jcm14010114 - 28 Dec 2024
Viewed by 1785
Abstract
This paper explores the essential role of pre-pregnancy counselling for women with rheumatoid arthritis (RA), focusing on minimising risks and optimising pregnancy outcomes. RA, a prevalent inflammatory arthritis with onset during childbearing years, necessitates targeted preconception counselling to manage disease activity and comorbidities [...] Read more.
This paper explores the essential role of pre-pregnancy counselling for women with rheumatoid arthritis (RA), focusing on minimising risks and optimising pregnancy outcomes. RA, a prevalent inflammatory arthritis with onset during childbearing years, necessitates targeted preconception counselling to manage disease activity and comorbidities effectively. The counselling ensures medication compatibility and planning around disease flares, and it involves a multidisciplinary team comprising rheumatologists, obstetricians, and other specialists to develop individualised care plans. This literature review highlights the challenges women with RA face, including prolonged time to pregnancy, increased risks during pregnancy, such as hypertension and preeclampsia, and potential fertility issues related to medication and disease activity. Emphasis is placed on the importance of assessing autoantibody presence and managing specific joint involvements that may affect anaesthetic procedures during pregnancy. This paper underscores the importance of timing conception during periods of low disease activity and adopting a “Treat-to-Target” approach using acceptable medications to maintain disease remission. This study calls for routine family planning discussions and preconception evaluations to address reproductive health and treatment plans, thereby supporting women with RA in achieving favourable pregnancy outcomes comparable to the general population. The multidisciplinary approach and regular counselling are critical to navigating the complexities of RA and pregnancy successfully. Full article
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9 pages, 579 KiB  
Article
The Effect of Pre-Biopsy Prostate MRI on the Congruency and Upgrading of Gleason Grade Groups Between Prostate Biopsy and Radical Prostatectomy
by Peter Stapleton, Thomas Milton, Niranjan Sathianathen and Michael O’Callaghan
Soc. Int. Urol. J. 2024, 5(6), 876-884; https://doi.org/10.3390/siuj5060069 - 17 Dec 2024
Viewed by 1040
Abstract
Introduction: Prostate biopsy results form the mainstay of patient care. However, there is often significant discordance between the biopsied histology and the ‘true’ histology shown on a radical prostatectomy (RP). Discordance in pathology can lead to the mismanagement of patients, potentially missing clinically [...] Read more.
Introduction: Prostate biopsy results form the mainstay of patient care. However, there is often significant discordance between the biopsied histology and the ‘true’ histology shown on a radical prostatectomy (RP). Discordance in pathology can lead to the mismanagement of patients, potentially missing clinically significant cancer and delaying treatment. There have been many advancements to improve the concordance of pathology and more accurately counsel patients; most notably, the induction of pre-biopsy mpMRIs has become a gold standard to aid in triaging and identifying clinically significant cancers, and also to facilitate ‘targeted’ biopsies. Although there have been multiple reviews on MRI-targeted biopsies, upgrading remains an ongoing phenomenon. Aim: To assess the rates of prostate cancer upgrading and the clinical implication of upgrading on NCCN stratification. Methods: We conducted a retrospective audit of 2994 men with non-metastatic prostate cancer diagnosed between 2010 and 2019 who progressed to a radical prostatectomy within 1 year of diagnosis without alternative cancer treatment from the multi-institutional South Australia Prostate Cancer Clinical Outcomes Collaborative registry. The study compared the histological grading between the biopsies and radical prostatectomies of men with prostate cancer and the varying rates of upgrading and downgrading for patients with and without a pre-biopsy MRI. Data were also obtain on suspected confounding variables; age, PSA, time to RP, T-stage at diagnosis and RP, number of cores, number of positive cores, prostate size, tumour volume and procedure type. The results were assessed through cross tabulation and uni- and multi-variate logistic regression while adjusting for confounders. Results: Upgrading occurred in (926) 30.9% of patients and downgrading in (458) 15.3% of patients. In total, 71% (410/579) of grade group 1 and 24.9% (289/1159) of grade group 2 were upgraded following a radical prostatectomy. By contrast, 33.4% (373/1118) of patients without prebiopsy MRI were upgraded at RP compared to 29.5% (553/1876) of the patients who received a pre-biopsy MRI. When analysed on a uni-variate level, the inclusion of a pre-biopsy MRI demonstrated a statically significant decrease in upgrading of the patient’s pathology and NCCN risk stratification (p = 0.026, OR 0.83, CI 0.71–0.98) (p = 0.049, OR 0.82, CI 0.64–1.01). However, when adjusted for confounders, the use of an MRI did not maintain a statistically significance. Conclusions: When considering the multiple variables associated with tumour upgrading, a pre-biopsy MRI did not show a statistically significant impact. However, upgrading of Gleason Grade Group following a prostatectomy is an ongoing phenomenon which can carry significant treatment implications and should remain a consideration with patients and clinicians when making decisions around treatment pathways. More research is still required to understand and improve biopsy grading to prevent further upgrading from affecting treatment choices. Full article
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13 pages, 642 KiB  
Study Protocol
Impact of the Timed and Targeted Counselling Model on Maternal Health Continuum of Care Outcomes in Northern Uganda: Protocol of a Quasi-Experimental Study
by Douglas Zibugu, Jessica S. Gubbels, Christabellah Namugenyi, John Bosco Asiimwe and Sanne Gerards
Methods Protoc. 2024, 7(6), 98; https://doi.org/10.3390/mps7060098 - 10 Dec 2024
Cited by 1 | Viewed by 1247
Abstract
Background: About 287,000 women died globally during their pregnancy journey in 2020, yet most of these deaths could have been prevented. In Uganda, studies show that using Community Health Worker (CHW) visits to households with a pregnant woman can support the prevention of [...] Read more.
Background: About 287,000 women died globally during their pregnancy journey in 2020, yet most of these deaths could have been prevented. In Uganda, studies show that using Community Health Worker (CHW) visits to households with a pregnant woman can support the prevention of adverse maternal and neonatal outcomes. One such intervention is through the timed and targeted counselling (ttC) approach, where CHWs deliver tailored messages to mothers and their male caregivers at key stages of pregnancy. This study aims to evaluate the impact of the ttC approach on maternal health in Northern Uganda. The main outcomes include antenatal care attendance, advised place of delivery, and postnatal care visit. Methods: We will employ a cross-sectional quasi-experimental design, with retrospective data to compare an intervention group (where ttC is implemented) to a control group (without intervention) using the propensity score matching (PSM) technique applying a 1:1 ratio with a caliper width of 20% of the standard deviation to estimate the average treatment effects. Adjusted odds ratios after generating matched pairs will be reported with 95% confidence intervals with Rosenbaum sensitivity analysis carried out for robustness. Discussion: These findings can be used to modify the implementation of the ttC approach, thereby enhancing its efficiency and effectiveness. Full article
(This article belongs to the Section Public Health Research)
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19 pages, 728 KiB  
Article
Needs-Assessment for an Artificial Intelligence-Based Chatbot for Pharmacists in HIV Care: Results from a Knowledge–Attitudes–Practices Survey
by Moustafa Laymouna, Yuanchao Ma, David Lessard, Kim Engler, Rachel Therrien, Tibor Schuster, Serge Vicente, Sofiane Achiche, Maria Nait El Haj, Benoît Lemire, Abdalwahab Kawaiah and Bertrand Lebouché
Healthcare 2024, 12(16), 1661; https://doi.org/10.3390/healthcare12161661 - 20 Aug 2024
Cited by 1 | Viewed by 2690
Abstract
Background: Pharmacists need up-to-date knowledge and decision-making support in HIV care. We aim to develop MARVIN-Pharma, an adapted artificial intelligence-based chatbot initially for people with HIV, to assist pharmacists in considering evidence-based needs. Methods: From December 2022 to December 2023, an online needs-assessment [...] Read more.
Background: Pharmacists need up-to-date knowledge and decision-making support in HIV care. We aim to develop MARVIN-Pharma, an adapted artificial intelligence-based chatbot initially for people with HIV, to assist pharmacists in considering evidence-based needs. Methods: From December 2022 to December 2023, an online needs-assessment survey evaluated Québec pharmacists’ knowledge, attitudes, involvement, and barriers relative to HIV care, alongside perceptions relevant to the usability of MARVIN-Pharma. Recruitment involved convenience and snowball sampling, targeting National HIV and Hepatitis Mentoring Program affiliates. Results: Forty-one pharmacists (28 community, 13 hospital-based) across 15 Québec municipalities participated. Participants perceived their HIV knowledge as moderate (M = 3.74/6). They held largely favorable attitudes towards providing HIV care (M = 4.02/6). They reported a “little” involvement in the delivery of HIV care services (M = 2.08/5), most often ART adherence counseling, refilling, and monitoring. The most common barriers reported to HIV care delivery were a lack of time, staff resources, clinical tools, and HIV information/training, with pharmacists at least somewhat agreeing that they experienced each (M ≥ 4.00/6). On average, MARVIN-Pharma’s acceptability and compatibility were in the ‘undecided’ range (M = 4.34, M = 4.13/7, respectively), while pharmacists agreed to their self-efficacy to use online health services (M = 5.6/7). Conclusion: MARVIN-Pharma might help address pharmacists’ knowledge gaps and barriers to HIV treatment and care, but pharmacist engagement in the chatbot’s development seems vital for its future uptake and usability. Full article
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