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23 pages, 913 KB  
Systematic Review
Exploring Continuous Glucose Monitoring in Gestational Diabetes: A Systematic Review
by Bianca-Margareta Salmen, Delia Reurean-Pintilei, Teodor Salmen and Roxana-Elena Bohîlțea
Life 2025, 15(9), 1369; https://doi.org/10.3390/life15091369 - 28 Aug 2025
Viewed by 202
Abstract
(1) Background: Gestational diabetes mellitus (GDM) is a glucose metabolism disorder that typically develops in the second half of pregnancy, transforming a normal pregnancy into a high-risk condition, with both short- and long-term complications for the mother and the fetus. Achieving optimal glycaemic [...] Read more.
(1) Background: Gestational diabetes mellitus (GDM) is a glucose metabolism disorder that typically develops in the second half of pregnancy, transforming a normal pregnancy into a high-risk condition, with both short- and long-term complications for the mother and the fetus. Achieving optimal glycaemic control during pregnancy is essential for preventing these outcomes and could be realized using continuous glucose monitoring systems (CGMSs). This systematic review aims to evaluate the role of the CGMS as a potential diagnostic aid and predictor of maternal and fetal outcomes in GDM. (2) Methods: Following the PRISMA guidelines (protocol ID: CRD42024559169), we performed a literature search using the terms “(continuous glucose monitoring system OR CGMS) AND (gestational diabetes mellitus OR GDM)” in the PubMed, Web of Science, and Scopus databases. (3) Results: Twelve studies were included, all reporting data on CGMS use in pregnancies complicated by GDM. The data included in our analysis are heterogeneous, the results suggesting that the CGMS may offer several advantages such as improved glycaemic control (by avoiding hyper- and hypoglycaemia), better gestational weight management, timely initiation of pharmacologic treatment, lower rates of preeclampsia, and improved neonatal outcomes. (4) Conclusions: the CGMS offers a more detailed assessment of both maternal and fetal exposure to high glucose levels, which could lead to earlier detection of those at risk for GDM complications and better guide treatment regimens, especially timely pharmacological intervention. While the current data are heterogeneous, reporting both limited or no benefits and superior benefits compared to the classic monitoring, larger longitudinal studies are mandatory to validate these findings and to better refine the role of CGMS in the monitoring and management of GDM. Full article
(This article belongs to the Special Issue Advanced Research in Obstetrics and Gynecology)
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25 pages, 1689 KB  
Review
Practical Considerations in the Management of Frail Older People with Diabetes
by Dima Abdelhafiz and Ahmed Abdelhafiz
Diseases 2025, 13(8), 249; https://doi.org/10.3390/diseases13080249 - 6 Aug 2025
Viewed by 737
Abstract
With increasing life expectancy, the number of older people living with comorbid diabetes and frailty is increasing. The development of frailty accelerates diabetes-related adverse outcomes. Frailty is a multidimensional syndrome with physical, mental and social aspects which is associated with increased risk of [...] Read more.
With increasing life expectancy, the number of older people living with comorbid diabetes and frailty is increasing. The development of frailty accelerates diabetes-related adverse outcomes. Frailty is a multidimensional syndrome with physical, mental and social aspects which is associated with increased risk of hypoglycaemia, dementia and hospitalisation. Therefore, regular screening for all aspects of frailty should be an integrated part of the care plans of older people with diabetes. In addition, every effort should be made for prevention, which includes adequate nutrition combined with regular resistance exercise training. In already frail older people with diabetes, metabolic targets should be relaxed and hypoglycaemic agents should be of low hypoglycaemic risk potential. Furthermore, the metabolic phenotype of frailty should be considered when choosing hypoglycaemic agents and determining targets. With increasing severity of frailty, proactive chronological plans of de-escalation, palliation and end-of-life care should be considered. These plans should be undertaken in a shared decision-making manner which involves patients and their families. This ensures that patients’ views, wishes and preferences are in the heart of these plans. Full article
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18 pages, 251 KB  
Protocol
Glucose Homeostasis, Metabolomics, and Pregnancy Outcomes After Bariatric Surgery (GLORIA): Protocol for a Multicentre Prospective Cohort Study
by Ellen Deleus, Niels Bochanen, Dries Ceulemans, Hanne Debunne, Bénédicte Denys, Roland Devlieger, Ina Geerts, Annouschka Laenen, Lisbeth Jochems, Els Lannoey, Matthias Lannoo, Anne Loccufier, Toon Maes, Joke Marlier, Astrid Morrens, Nele Myngheer, Luna Tierens, Griet Vandenberghe, Annick Van den Bruel, Lien Van den Haute, Bart Van der Schueren, Inge Van Pottelbergh and Katrien Benhalimaadd Show full author list remove Hide full author list
J. Clin. Med. 2025, 14(13), 4782; https://doi.org/10.3390/jcm14134782 - 7 Jul 2025
Viewed by 664
Abstract
Background: Metabolic bariatric surgery is a highly effective and long-lasting treatment for obesity and related chronic conditions. Women of reproductive age represent the largest group undergoing these procedures. Observational studies suggest an increased risk of preterm birth and impaired foetal growth in this [...] Read more.
Background: Metabolic bariatric surgery is a highly effective and long-lasting treatment for obesity and related chronic conditions. Women of reproductive age represent the largest group undergoing these procedures. Observational studies suggest an increased risk of preterm birth and impaired foetal growth in this population, though the underlying mechanisms remain unclear. A key hypothesis is that altered glucose metabolism, characterised by frequent hypoglycaemia and glycaemic fluctuations, may contribute to these adverse outcomes. While glycaemic variability following metabolic bariatric surgery has been documented, its pattern during pregnancy and impact on pregnancy outcomes are still underexplored. Methods: In this Belgian multicentre prospective cohort study, we will investigate glycaemic patterns during pregnancy in women who have undergone metabolic bariatric surgery. Women aged 18–45 years with a confirmed singleton pregnancy up to 11 weeks and 6 days and a history of Roux-en-Y gastric bypass or sleeve gastrectomy will be eligible for inclusion. Women with pregestational diabetes or those taking medication known to interfere with glucose metabolism will be excluded. All participants will receive blinded continuous glucose monitoring (Dexcom® G6) for a 10-day period at four time points throughout the pregnancy. Foetal body composition and growth will be measured during routine ultrasound; skinfolds will be measured in the neonate. The primary outcome is the association between mean glycemia and glycaemic variability on continuous glucose monitoring and birth weight. The planned sample size is ninety-five women. Linear mixed models for repeated measurements will be used for analysis. Confounders such as smoking, micronutrient deficiency, and surgery-to-conception interval will be added to the model as covariates. In a second exploratory phase, each participant in the surgical group will be matched with a control participant—without a history of metabolic bariatric surgery—based on pre-pregnancy BMI and age. Control participants will undergo the same study procedures, allowing for exploratory comparison of glycaemic patterns and other study outcomes. Discussion: This prospective longitudinal study will be the largest study using continuous glucose monitoring to investigate glucose metabolism during pregnancy after metabolic bariatric surgery and its impact on foetal growth and newborn body composition. Trial registration: ClinicalTrials.gov: NCT05084339. Registration date: 15 October 2021. Full article
(This article belongs to the Section Obstetrics & Gynecology)
11 pages, 207 KB  
Article
High User Satisfaction Rates with DEXCOM Continuous Glucose Monitoring Device in People with Type 1 Diabetes—A Pilot Cross-Sectional Study
by Benái Paponette, Laura Keaver, Peter Lynch, Elias Eltoum, Liam Clarke, Jordan Carty, Siobhan Bacon and Catherine McHugh
Diabetology 2025, 6(7), 64; https://doi.org/10.3390/diabetology6070064 - 2 Jul 2025
Viewed by 598
Abstract
Background/Objectives: DEXCOM™ continuous glucose monitoring devices (DCGMs) have been shown to improve glycaemic control and complication rates in people with Type 1 diabetes (T1DM). However, little qualitative data exists regarding user satisfaction, useful features and the overall lived experience of using a [...] Read more.
Background/Objectives: DEXCOM™ continuous glucose monitoring devices (DCGMs) have been shown to improve glycaemic control and complication rates in people with Type 1 diabetes (T1DM). However, little qualitative data exists regarding user satisfaction, useful features and the overall lived experience of using a DCGM which will strongly impact one’s quality of life (QOL), compliance and the self-management of diabetes. This study aimed to assess DCGM users’ satisfaction rates and experiences with device features in patients with T1DM in Ireland. Methods: A questionnaire consisting of open- and closed-ended questions together with a glucose monitoring satisfaction survey (GMSS) was offered to all patients attending Sligo University Hospital (SUH) diabetes clinic who used a DCGM for at least six months. Results: Data was analysed for 73 participants. Self-reported QOL improved in 88% of participants and 52% of participants reported fewer hypoglycaemic events. The features most liked by participants were alerts given when the glycaemic target was not in range, improved quality of life, improved hypoglycaemia awareness and the need for reduced finger pricking. However, concerns were also identified about redundant alarms and sensor failures, phone incompatibility and skin reactions. DCGM was associated with good levels of glucose monitoring satisfaction with an overall satisfaction score of 3.67 ± 1.24 out of 5. Participants reported high openness (4.01 ± 0.91), increased trust (3.77 ± 1.16) and low emotional (1.70 ± 0.97) and behavioural burden (2.38 ± 1.10) with DCGM usage. Male participants who had diabetes for a mean duration of 20.06 ± 0.89 years and used DEXCOMTM for approximately 2 years demonstrated significantly higher levels of satisfaction (p < 0.05). Conclusions: The findings of this study provide a first exploration of patients’ perspectives on DCGM devices in an Irish setting. Results suggest that DCGM users are highly satisfied with the device with an increase in self-reported QOL. Adaptations to features based on patient feedback should be considered to further enhance user satisfaction and maximise QOL benefits. Full article
11 pages, 580 KB  
Review
Congenital Hyperinsulinism India Association: An Approach to Address the Challenges and Opportunities of a Rare Disease
by Jaikumar B. Contractor, Venkatesan Radha, Krati Shah, Praveen Singh, Sunil Tadepalli, Somashekhar Nimbalkar, Viswanathan Mohan and Pratik Shah
Med. Sci. 2025, 13(2), 37; https://doi.org/10.3390/medsci13020037 - 1 Apr 2025
Cited by 1 | Viewed by 845
Abstract
India’s population complexity presents varied challenges in genetic research, and while facilities have gained traction in tier-1 and -2 cities, reliance on international collaborations often delays such investigations. COVID-19 further exacerbated the issues with such sample sharing. Congenital Hyperinsulinism (CHI) is a rare [...] Read more.
India’s population complexity presents varied challenges in genetic research, and while facilities have gained traction in tier-1 and -2 cities, reliance on international collaborations often delays such investigations. COVID-19 further exacerbated the issues with such sample sharing. Congenital Hyperinsulinism (CHI) is a rare genetic disorder of pancreatic β-cells causing hypoglycaemia in children due to abnormal insulin secretion. Given India’s high birth rate and consanguineous populations, annual CHI cases are estimated to be around up to 10,000, with up to 50% having unexplained genetic causes. Diffuse or atypical lesions in such patients often necessitate near-total-pancreatectomy, risking pancreatic exocrine insufficiency and diabetes, requiring lifelong therapy. Also, novel genetic variations complicate accurate diagnosis, risk assessment, and counselling, emphasising the need for rapid genetic assessment to prevent neurological injuries and inform treatment decisions. Despite significant efforts at many institutes, there are no dedicated organisations for CHI in India. With the implementation of the National Policy for Rare Diseases 2021, we plan to form a non-profit organisation, “Congenital Hyperinsulinism India Association (CHIA)”, comprising paediatric endocrinologists, paediatricians, geneticists, and independent researchers. The aims of this association are to generate a national database registry of patients, formulate a parent support group and CHIA consortium, design patient information leaflets, as well as foster genomic collaborations and promote clinical trials. Such steps will help sensitise the health authorities and policy makers, urging them to improve the allocation of health budgets for rare diseases, as well as empower patients and their families, contributing towards a better quality of life. Full article
(This article belongs to the Section Endocrinology and Metabolic Diseases)
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24 pages, 2833 KB  
Review
Evidence-Based Nutraceuticals Derived from Antrodia cinnamomea
by Chunyuhang Xu, Qingtong Xie, Chien-Liang Kuo, Xin Yang and Dejian Huang
Foods 2025, 14(7), 1212; https://doi.org/10.3390/foods14071212 - 30 Mar 2025
Cited by 2 | Viewed by 2664
Abstract
Antrodia cinnamomea (A. cinnamomea), a medicinal and edible mushroom endemic to Taiwan, has been traditionally valued as a health tonic. Recent studies have highlighted the diverse specialized metabolites and bioactive potential of this substance, primarily attributed to key secondary metabolites such [...] Read more.
Antrodia cinnamomea (A. cinnamomea), a medicinal and edible mushroom endemic to Taiwan, has been traditionally valued as a health tonic. Recent studies have highlighted the diverse specialized metabolites and bioactive potential of this substance, primarily attributed to key secondary metabolites such as benzenoids, maleic and succinic acids, ubiquinone, triterpenoids, and the primary metabolite polysaccharides. These compounds exhibit a broad spectrum of pharmacological properties, including those related to antibacterial, antitumor, anti-inflammation, hepatoprotection, hypoglycaemia, and antioxidant activities, and immunomodulation and gut microbiota regulation. These findings highlight the therapeutic potential of A. cinnamomea and its potential applications in health supplements and functional foods. This review evaluated recent advancements in the cultivation, extraction, and characterization of bioactive compounds from A. cinnamomea, with a particular focus on submerged and solid-state fermentation methods. We hope to provide a comprehensive framework for promoting the efficient and scientific evidence based utilization of A. cinnamomea in novel therapeutic strategies and health-related innovations. Full article
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14 pages, 265 KB  
Article
Flash Glucose Monitoring for Predicting Cardiogenic Shock Occurrence in Critically Ill Patients: A Retrospective Pilot Study
by Velimir Altabas, Dorijan Babić, Anja Grulović, Tomislav Bulum and Zdravko Babić
Diagnostics 2025, 15(6), 685; https://doi.org/10.3390/diagnostics15060685 - 11 Mar 2025
Viewed by 917
Abstract
Background/Objectives: Continuous and flash glucose monitoring (CGM and FGM) may enhance glucose management by providing real-time glucose data. Furthermore, growing evidence is linking altered blood glucose concentrations and worse short-term outcomes in critically ill patients. While hyperglycemia is more common in these patients [...] Read more.
Background/Objectives: Continuous and flash glucose monitoring (CGM and FGM) may enhance glucose management by providing real-time glucose data. Furthermore, growing evidence is linking altered blood glucose concentrations and worse short-term outcomes in critically ill patients. While hyperglycemia is more common in these patients and is associated with an increased risk of adverse events, hypoglycemia is particularly concerning and significantly raises the risk of fatal outcomes. This exploratory study investigated the link between FGM variables and cardiogenic shock in critically ill Coronary Care Unit (CCU) patients. Methods: Twenty-eight CCU patients (1 May 2021–31 January 2022) were monitored using a Libre FreeStyle system. Analyzed data included patient demographic and laboratory data, left ventricular ejection fraction, standard glucose monitoring, APACHE IV scores, and cardiogenic shock occurrence. Analysis was performed using the χ2 test, Mann–Whitney U test, and logistic regression. Results: Among the patients, 13 (46.43%) developed cardiogenic shock. FGM detected hypoglycemia in 18 (64.29%) patients, while standard methods in 6 (21.43%) patients. FGM-detected hypoglycemia was more frequent in patients who developed cardiogenic shock (p = 0.0129, χ2 test) with a significantly higher time below range reading (p = 0.0093, Mann Withney U test), despite no differences in mean glucose values. In addition, hypoglycemia detected by FGM was an independent predictor of shock (p = 0.0390, logistic regression). Conclusions: FGM identified more hypoglycemic events compared to standard glucose monitoring in the CCU. Frequent FGM-detected hypoglycemic events were associated with cardiogenic shock, regardless of a history of diabetes. Due to a limited sample size, these results should be interpreted cautiously and further research in this area is justified. Full article
(This article belongs to the Special Issue Advances in Modern Diabetes Diagnosis and Treatment Technology)
15 pages, 732 KB  
Article
Activation of the Nrf2 Pathway by Sulforaphane Improves Hypoglycaemia-Induced Cognitive Impairment in a Rodent Model of Type 1 Diabetes
by Heather J. Merchant, Calum Forteath, Jennifer R. Gallagher, Albena T. Dinkova-Kostova, Michael L. J. Ashford, Rory J. McCrimmon and Alison D. McNeilly
Antioxidants 2025, 14(3), 308; https://doi.org/10.3390/antiox14030308 - 4 Mar 2025
Cited by 1 | Viewed by 2968
Abstract
In diabetes, chronic hyperglycaemia leads to cognitive impairment, neurodegeneration and dementia. In a rodent model of streptozotocin (STZ)-induced type 1 diabetes (STZ-T1D), we previously demonstrated that recurrent hypoglycaemia (RH) further exacerbates this process through a mechanism involving increased oxidative and inflammatory stress that [...] Read more.
In diabetes, chronic hyperglycaemia leads to cognitive impairment, neurodegeneration and dementia. In a rodent model of streptozotocin (STZ)-induced type 1 diabetes (STZ-T1D), we previously demonstrated that recurrent hypoglycaemia (RH) further exacerbates this process through a mechanism involving increased oxidative and inflammatory stress that overwhelms the compensatory activation of the nuclear factor erythroid 2-related factor 2 (Nrf2) antioxidant system, which was insufficient to prevent cognitive impairment. The current study investigated whether the induction of the antioxidant response through pre-treatment with sulforaphane (SFN), a potent Nrf2 inducer, would ameliorate these cognitive deficits. A mouse model of chronic insulin-treated T1D was achieved using STZ (125 mg/kg i.p.) and insulin implants (Linbit®). Diabetic and Control (C57BL6/J) mice were randomly allocated to one of the following seven groups: (i) Control, (ii) STZ-T1D, (iii) Control + RH, (iv) STZ-T1D + RH, (v) Control + RH + SFN, (vi) STZ-T1D + RH + SFN or (vii) STZ-T1D + SFN, and subjected to insulin-induced hypoglycaemia (three episodes per week for four weeks). SFN (50 mg/kg i.p.) or a vehicle (0.1% DMSO/PBS i.p.) were administered 24 h before each hypoglycaemic episode. Cognition was assessed with the Novel Object Recognition (NOR) and spontaneous alternation (SA) tasks. SFN significantly improved the cognitive performance in the 24-h NOR and SA tasks in the STZ-T1D + RH groups. These improvements were absent in the Control or Nrf2-null mice receiving SFN. These studies show, for the first time, that the pharmacological activation of the Nrf2 antioxidant pathway may provide a novel therapeutic target for treating cognitive impairment associated with RH in T1D. Full article
(This article belongs to the Special Issue Redox Signaling Regulation in Neurological Disorders)
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17 pages, 571 KB  
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 1579
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
8 pages, 684 KB  
Case Report
Smart Insulin Pen in Pregnant Women with Type 1 Diabetes: An Encouraging Case Series
by Veronica Resi, Alessia Gaglio, Yana Pigotskaya, Amelia Caretto, Emanuela Orsi and Valeria Grancini
Healthcare 2025, 13(1), 38; https://doi.org/10.3390/healthcare13010038 - 29 Dec 2024
Cited by 1 | Viewed by 1054
Abstract
Background: The management of type 1 diabetes in pregnancy with new technologies is challenging. Sometimes the complexity of new-generation systems such as “continuous subcutaneous insulin infusion, CSII” and patient or provider preference do not allow their use, so women with type 1 diabetes [...] Read more.
Background: The management of type 1 diabetes in pregnancy with new technologies is challenging. Sometimes the complexity of new-generation systems such as “continuous subcutaneous insulin infusion, CSII” and patient or provider preference do not allow their use, so women with type 1 diabetes in pregnancy continue to be treated with subcutaneous multiple-injection insulin therapy using pens. Smart insulin pens are new tools that allow for data collection on insulin dose and time of administration and have additional connectivity features. Objective: To retrospectively describe the use of a smart insulin pen coupled with rt-CGM (InPenTM system) in three pregnancies complicated by type 1 diabetes. Methods: Participants used the InPenTM system in pregnancy and consented to analysis of glycaemic data and pregnancy outcome. Results: An increase in pregnancy specific time-in-range glucose was observed in the three patients related to the duration of insulin action, insulin sensitivity factors, and a pre-set target glucose range for pregnancy. No diabetic ketoacidosis or severe hypoglycaemia occurred. Conclusions: We describe practical considerations in three pregnant patients with type 1 diabetes where the InPenTM system was used with suggestive improvements in the time-in-range. Full article
(This article belongs to the Special Issue Advanced Technological Approaches in Diabetes)
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7 pages, 507 KB  
Case Report
PPP2R5D-Related Neurodevelopmental Disorder and Multiple Haemangiomas: A Novel Phenotypic Trait?
by Francesco Comisi, Consolata Soddu, Francesco Lai, Monica Marica, Michela Lorrai, Giancarlo Mancuso, Sabrina Giglio and Salvatore Savasta
Pediatr. Rep. 2024, 16(4), 1200-1206; https://doi.org/10.3390/pediatric16040101 - 16 Dec 2024
Viewed by 1339
Abstract
Background: Houge-Janssens syndrome 1 is a condition with onset in early childhood caused by heterozygous pathogenic variants in the PPP2R5D gene, which encodes a B56 regulatory subunit of the serine/threonine protein phosphatase 2A (PP2A). There is evidence that the PP2A-PPP2R5D complex is involved [...] Read more.
Background: Houge-Janssens syndrome 1 is a condition with onset in early childhood caused by heterozygous pathogenic variants in the PPP2R5D gene, which encodes a B56 regulatory subunit of the serine/threonine protein phosphatase 2A (PP2A). There is evidence that the PP2A-PPP2R5D complex is involved in regulating the phosphatidylinositol 3-kinase (PI3K)/AKT signalling pathway, which is crucial for several cellular processes, including the pathogenesis and progression of haemangiomas. Case presentation: We report the first PPP2R5D-related neurodevelopmental disorder case from Sardinia, a child with transient hypoglycaemia, facial dysmorphisms, and multiple haemangiomas. Whole Exome Sequencing analysis confirmed the clinical suspicion, detecting the presence of the de novo missense variant c.592G>A in the PPP2R5D gene. Conclusions: Haemangiomas have never been linked to the syndromic phenotype of the PPP2R5D-associated disorder. The close correlation between the PP2A enzyme and the PI3K/AKT signalling pathway suggests the possible correlation between its dysfunction and activation of haemangiogenesis. Our report highlights a possible link between the PPP2R5D-related disorder and altered angiogenesis, characterizing diffuse haemangiomas as a possible novel phenotypic trait of this condition. Full article
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10 pages, 3457 KB  
Case Report
Safety and Efficacy of Using Advanced Hybrid Closed Loop Off-Label in an Infant Diagnosed with Permanent Neonatal Diabetes Mellitus: A Case Report and a Look to the Future
by Federico Pezzotta, Nicola Sarale, Giordano Spacco, Giacomo Tantari, Enrica Bertelli, Giulia Bracciolini, Andrea Secco, Giuseppe d’Annunzio, Mohamad Maghnie, Nicola Minuto and Marta Bassi
Children 2024, 11(10), 1225; https://doi.org/10.3390/children11101225 - 9 Oct 2024
Cited by 5 | Viewed by 2281
Abstract
The case report shows the safety and efficacy of insulin treatment with Advanced Hybrid Closed Loop (AHCL) system in a young patient affected by permanent neonatal diabetes mellitus (PNDM) due to chromosome 8 deletion syndrome involving the GATA4 gene. In the first days [...] Read more.
The case report shows the safety and efficacy of insulin treatment with Advanced Hybrid Closed Loop (AHCL) system in a young patient affected by permanent neonatal diabetes mellitus (PNDM) due to chromosome 8 deletion syndrome involving the GATA4 gene. In the first days of life, he presented hyperglycaemia and started an intravenous insulin infusion therapy, replaced by a continuous subcutaneous insulin infusion (CSII) with Medtronic Minimed 780G® insulin pump (Medtronic, Northridge, CA, USA). At the age of 2 years, the off-label activation of SmartGuard® automated insulin delivery mode led to a great improvement in glycaemic control, reaching all recommended targets. At the 1-month follow-up visit, Time in Range (TIR) increased from 66% to 79%, with a Time in Tight Range (TTIR) of 55% and a reduction of 11% in time in hyperglycaemia and of 2% in time in hypoglycaemia. During the entire follow-up, no episodes of ketoacidosis or severe hypoglycaemia were observed and the patient maintained the glycaemic recommended targets reached at 1 month. Maintaining optimal glycaemic control and reducing hyperglycaemia are essential for brain growth and neurocognitive development in young patients. AHCL use should be considered to ensure good glycaemic control in patients affected by neonatal diabetes. Full article
(This article belongs to the Section Pediatric Endocrinology & Diabetes)
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13 pages, 1927 KB  
Article
Screening for Hypoglycaemia Risk and Medication Changes in Diabetes Patients Using Pharmacy Dispensing Data
by Indriastuti Cahyaningsih, Amal Asiri, Stijn de Vos, Jens H. J. Bos, Catharina C. M. Schuiling-Veninga, Katja Taxis and Petra Denig
J. Clin. Med. 2024, 13(19), 5855; https://doi.org/10.3390/jcm13195855 - 30 Sep 2024
Viewed by 1209
Abstract
Background: To improve hypoglycaemia management in primary care, more insight is needed into the opportunities to screen for hypoglycaemia risk and subsequent treatment modification using routinely available data. Our primary aim was to assess the number of diabetes patients with an estimated [...] Read more.
Background: To improve hypoglycaemia management in primary care, more insight is needed into the opportunities to screen for hypoglycaemia risk and subsequent treatment modification using routinely available data. Our primary aim was to assess the number of diabetes patients with an estimated high risk of hypoglycaemia and describe the treatment changes in these patients using pharmacy dispensing data. Additionally, our aim was to investigate patient characteristics associated with such treatment changes. Methods: A drug utilisation cohort study with a 1-year follow-up using the IADB.nl pharmacy database was conducted. Patients aged 35 years or older who received at least two glucose-lowering medication dispensings in 2019 were included. Hypoglycaemia risk was determined using a validated algorithm based on patient demographics and dispensing data. The hypoglycaemia risk score ranged between 0 and 1. The anniversary method was used to evaluate treatment changes after 1 year. Factors associated with treatment changes were assessed by multinomial logistic regression. Results: Around one-quarter (26.9%) of the 36,628 included patients had a hypoglycaemia score of 0.6 or more. After a 1-year follow-up, the majority of these patients (88.9%) experienced no diabetes treatment changes. De-intensification was observed for 8.8% and intensification for 2.3%. Having a high-risk score, being female, and being younger in age were associated with de-intensification. Conclusions: A substantial number of primary care patients using glucose-lowering medications appear at risk of hypoglycaemia, whereas few of them undergo medication de-intensification. Pharmacy dispensing data can be helpful in screening for diabetes patients in whom a review of treatment is indicated. Full article
(This article belongs to the Section Endocrinology & Metabolism)
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21 pages, 1294 KB  
Review
The Intersection between Frailty, Diabetes, and Hypertension: The Critical Role of Community Geriatricians and Pharmacists in Deprescribing
by Daniel Dinarvand, Johann Panthakey, Amirmohammad Heidari, Ahmed Hassan and Mohamed H. Ahmed
J. Pers. Med. 2024, 14(9), 924; https://doi.org/10.3390/jpm14090924 - 30 Aug 2024
Cited by 4 | Viewed by 2636
Abstract
Background: Frailty is a clinical syndrome prevalent among the elderly, characterised by a decline in physiological reserves and increased susceptibility to stressors, resulting in higher morbidity and mortality. Diabetes and hypertension are common in frail older individuals, often leading to polypharmacy. In [...] Read more.
Background: Frailty is a clinical syndrome prevalent among the elderly, characterised by a decline in physiological reserves and increased susceptibility to stressors, resulting in higher morbidity and mortality. Diabetes and hypertension are common in frail older individuals, often leading to polypharmacy. In this narrative review, we aimed to evaluate the relationship between frailty, diabetes, and hypertension and to identify effective management strategies and future research directions. Methods: This narrative review was conducted using the Scopus, Medline, PubMed, Cochrane Library, and Google Scholar databases. Results: Frailty significantly impacts the management and prognosis of diabetes and hypertension, which, in turn, affects the progression of frailty. Managing these conditions often involves multiple drugs to achieve strict glycaemic control and blood pressure targets, leading to polypharmacy and associated morbidities, including orthostatic hypotension, falls, fractures, hypoglycaemia, and reduced medication adherence. Identifying frailty and implementing strategies like deprescribing can mitigate the adverse effects of polypharmacy and improve outcomes and quality of life. Despite the availability of effective tools for identifying frailty, many frail individuals continue to be exposed to complex treatment regimens for diabetes and hypertension, leading to increased hospital admissions, morbidity, and mortality. Conclusions: Managing diabetes and hypertension in the frail ageing population requires a multidisciplinary approach involving hospital and community geriatricians and pharmacists. This is important due to the lack of sufficient clinical trials dedicated to diabetes and hypertension in the context of frailty. Future large population studies are needed to assess the best approaches for managing diabetes and hypertension in frail individuals. Full article
(This article belongs to the Section Epidemiology)
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12 pages, 1427 KB  
Review
Nutritional Management of Patients with Fatty Acid Oxidation Disorders
by Luis Peña-Quintana and Patricia Correcher-Medina
Nutrients 2024, 16(16), 2707; https://doi.org/10.3390/nu16162707 - 14 Aug 2024
Cited by 3 | Viewed by 3891
Abstract
Treatment of fatty acid oxidation disorders is based on dietary, pharmacological and metabolic decompensation measures. It is essential to provide the patient with sufficient glucose to prevent lipolysis and to avoid the use of fatty acids as fuel as far as possible. Dietary [...] Read more.
Treatment of fatty acid oxidation disorders is based on dietary, pharmacological and metabolic decompensation measures. It is essential to provide the patient with sufficient glucose to prevent lipolysis and to avoid the use of fatty acids as fuel as far as possible. Dietary management consists of preventing periods of fasting and restricting fat intake by increasing carbohydrate intake, while maintaining an adequate and uninterrupted caloric intake. In long-chain deficits, long-chain triglyceride restriction should be 10% of total energy, with linoleic acid and linolenic acid intake of 3–4% and 0.5–1% (5/1–10/1 ratio), with medium-chain triglyceride supplementation at 10–25% of total energy (total MCT+LCT ratio = 20–35%). Trihepatnoin is a new therapeutic option with a good safety and efficacy profile. Patients at risk of rhabdomyolysis should ingest MCT or carbohydrates or a combination of both 20 min before exercise. In medium- and short-chain deficits, dietary modifications are not advised (except during exacerbations), with MCT contraindicated and slow sugars recommended 20 min before any significant physical exertion. Parents should be alerted to the need to increase the amount and frequency of carbohydrate intake in stressful situations. The main measure in emergency hospital treatment is the administration of IV glucose. The use of carnitine remains controversial and new therapeutic options are under investigation. Full article
(This article belongs to the Special Issue Nutritional Management of Patients with Inborn Errors of Metabolism)
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