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17 pages, 2410 KiB  
Article
Microstructural Characterisation of Bi-Ag-Ti Solder Alloy and Evaluation of Wettability on Ceramic and Composite Substrates Joined via Indirect Electron Beam Heating in Vacuum
by Mikulas Sloboda, Roman Kolenak, Tomas Melus, Peter Gogola, Matej Pasak, Daniel Drimal and Jaromir Drapala
Materials 2025, 18(15), 3634; https://doi.org/10.3390/ma18153634 (registering DOI) - 1 Aug 2025
Abstract
This paper examines the wettability and interactions between ceramic and composite materials soldered with Bi-based solder containing 11 wt.% of silver and 3 wt.% titanium using indirect electron beam soldering technology. The Bi11Ag3Ti solder, with a melting point of 402 °C, consisted of [...] Read more.
This paper examines the wettability and interactions between ceramic and composite materials soldered with Bi-based solder containing 11 wt.% of silver and 3 wt.% titanium using indirect electron beam soldering technology. The Bi11Ag3Ti solder, with a melting point of 402 °C, consisted of a bismuth matrix containing silver lamellae. Titanium, acting as an active element, positively influenced the interaction between the solder and the joined materials. SiC and Ni-SiC substrates were soldered at temperatures of 750 °C, 850 °C, and 950 °C. Measurements of wettability angles indicated that the lowest value (20°) was achieved with SiC substrates at 950 °C. A temperature of 750 °C appeared to be the least suitable for both substrates and was entirely unsuitable for Ni-SiC. It was also observed that the Bi11Ag3Ti solder wetted the SiC substrates more effectively than Ni-SiC substrates. The optimal working temperature for this solder was determined to be 950 °C. The shear strength of the joints soldered with the Bi11Ag3Ti alloy was 23.5 MPa for the Al2O3/Ni-SiC joint and 9 MPa for the SiC/Ni-SiC joint. Full article
(This article belongs to the Special Issue Advanced Materials and Processing Technologies)
15 pages, 245 KiB  
Article
Exploring Single-Nucleotide Polymorphisms in Primary and Secondary Male Infertility
by Fatina W. Dahadhah, Mohanad Odeh, Heba A. Ali, Jihad A. M. Alzyoud and Manal Issam Abu Alarjah
Med. Sci. 2025, 13(3), 109; https://doi.org/10.3390/medsci13030109 (registering DOI) - 1 Aug 2025
Abstract
Background/Objectives: Infertility, defined as the failure to achieve pregnancy after one year of regular unprotected intercourse, represents a significant global health challenge, with male factors contributing to approximately 50% of cases. In this epidemiological context, both primary male infertility (the inability to conceive [...] Read more.
Background/Objectives: Infertility, defined as the failure to achieve pregnancy after one year of regular unprotected intercourse, represents a significant global health challenge, with male factors contributing to approximately 50% of cases. In this epidemiological context, both primary male infertility (the inability to conceive a first child) and secondary male infertility (which occurs when a man who has already fathered a child faces difficulty conceiving again) remain poorly understood at the genetic level. This study explored the role of single-nucleotide polymorphisms (SNPs) in mitochondrial genes (MT-ND3, MT-ND4L, and MT-ND4) in primary and secondary male infertility. Methods: This study analyzed the genotype distributions of SNPs in 68 infertile males (49 with primary infertility and 19 with secondary infertility) using Sanger sequencing. Results: Key findings revealed that studied SNPs were significantly associated with infertility type. Specifically, rs2857285 (T>C,G) in the ND4 gene showed a significant correlation (p = 0.023) with the TT genotype, which is prominent in primary infertility. Another SNP, rs28358279 (T>A,C) in the ND4L gene, also demonstrated a significant correlation (p = 0.046) with the TT genotype, being more common in primary infertility. In addition, rs869096886 (A>G) in the ND4 gene had a borderline correlation (p = 0.051), indicating a possible association between this SNP and reproductive duration. Conclusions: This study emphasizes the potential relevance of mitochondrial malfunction in male infertility, specifically the effects of studied SNPs on sperm survival and function over time. These findings suggest that certain mitochondrial SNPs might be potential biomarkers for infertility risk. Larger studies are needed to confirm these associations and examine the functional effects of these SNPs. Combining genetic analysis with environmental and lifestyle factors could enhance our understanding of male infertility and improve diagnostic and therapeutic strategies. Full article
14 pages, 279 KiB  
Article
FIB-4 Score as a Predictor of Eligibility for Elastography Exam in Patients with Polycystic Ovary Syndrome
by Maciej Migacz, Dagmara Pluta, Kamil Barański, Anna Kujszczyk, Marta Kochanowicz and Michał Holecki
Biomedicines 2025, 13(8), 1878; https://doi.org/10.3390/biomedicines13081878 (registering DOI) - 1 Aug 2025
Abstract
Background/objectives: Polycystic ovary syndrome (PCOS) and metabolic dysfunction-associated steatotic liver disease (MASLD) are common co-morbidities in women of reproductive age. PCOS is highly heterogeneous and is, therefore, divided into four phenotypes. MASLD leads to numerous systemic complications. Studies to date have shown an [...] Read more.
Background/objectives: Polycystic ovary syndrome (PCOS) and metabolic dysfunction-associated steatotic liver disease (MASLD) are common co-morbidities in women of reproductive age. PCOS is highly heterogeneous and is, therefore, divided into four phenotypes. MASLD leads to numerous systemic complications. Studies to date have shown an association between PCOS and MASLD. This study was designed to compare the FIB-4 score (based on age, alanine aminotransferase, aspartate aminotransferase and platelet count) and the results of shear wave elastography in assessing the risk of developing MASLD by patients with PCOS divided by phenotypes. Methods: The study enrolled 242 women age 18–35 years with PCOS diagnosed according to Rotterdam criteria, hospitalized at the Department of Gynaecological Endocrinology of the University Clinical Centre in Katowice. The study subjects were assigned to phenotypes A to D. Clinical and biochemical assessments were performed (including androgens and metabolic parameters), and the FIB-4 index was calculated. Liver fibrosis was evaluated by shear wave elastography. To balance the group sizes of phenotypes, oversampling with replacement was applied (PROC SURVEYSELECT, SAS), increasing the number of observations for phenotypes B, C, and D fivefold. Statistical analyses were performed based on data distribution (Shapiro–Wilk test), using ANOVA or the Kruskal–Wallis test with Dunn’s correction. Statistical significance was set at p < 0.05. Results: The FIB-4 score was the highest in phenotype B patients (0.50 ± 0.15), and the lowest in phenotypes A and C (0.42 ± 0.14). The highest rate of positive elastography findings was recorded in phenotype A patients (34.7%) and the lowest in phenotype C group (13.5%). Significant differences between the phenotypes were also found in terms of androgen levels, insulin, HOMA-IR, and the lipid profile. Among patients with positive elastography, the highest FIB-4 scores were recorded in phenotype C group (0.44 ± 0.06), but the differences between the phenotypes were not statistically significant. Conclusions: The FIB-4 score was the highest in phenotype B patients and differed significantly from phenotypes A, C and D. In the elastography exam, the fibrosis index was statistically significantly higher in phenotype A compared to other phenotypes. No correlation was detected between the FIB-4 index and positive elastography. The findings suggest that the FIB-4 index may be used for MASLD screening, but its usefulness as a predictor of eligibility for elastography requires more research. Full article
16 pages, 604 KiB  
Article
Once-Weekly Semaglutide Improves Body Composition in Spanish Obese Adults with Type 2 Diabetes: A 48-Week Prospective Real-Life Study
by Irene Caballero-Mateos, Cristóbal Morales-Portillo and Beatriz González Aguilera
J. Clin. Med. 2025, 14(15), 5434; https://doi.org/10.3390/jcm14155434 (registering DOI) - 1 Aug 2025
Abstract
Objective: The objective of this study was to assess changes in body composition, with a specific focus on fat mass (FM) and fat-free mass (FFM), in obese adults with type 2 diabetes (T2D) treated with once-weekly (OW) subcutaneous (s.c.) semaglutide. Methods: This was [...] Read more.
Objective: The objective of this study was to assess changes in body composition, with a specific focus on fat mass (FM) and fat-free mass (FFM), in obese adults with type 2 diabetes (T2D) treated with once-weekly (OW) subcutaneous (s.c.) semaglutide. Methods: This was a single-center, 12-month, real-world, ambispective study (6-month prospective and 6-month retrospective). Body composition parameters were assessed via segmental multifrequency bioelectrical impedance analysis (SMF-BIA). Results: A total of 117 patients with DM2, with a median age of 56 years, a median HbA1c level of 9.4%, and a median body weight of 102.5 kg, were included in the study. The median body weight, body fat mass, and visceral fat significantly decreased at 6 months, with values of −9.3, −7.5, and −1.8 kg, respectively. There were further reductions from 6 to 12 months, albeit at a slower rate. The median skeletal muscle mass significantly decreased at 6 months (−1.2 kg), although no further significant reductions were observed at 12 months. Conclusions: OW s.c. semaglutide for 12 months significantly improved body composition parameters, mainly at the expense of fat mass loss, with the preservation of skeletal muscle mass. These changes are clinically meaningful, since they impact general metabolic health and are associated with improvements in metabolic control and clinical parameters associated with renal and CV risks, as well as presumable improvements in quality of life. Full article
(This article belongs to the Section Endocrinology & Metabolism)
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10 pages, 1973 KiB  
Communication
Pro-Angiogenic Effects of Canine Platelet-Rich Plasma: In Vitro and In Vivo Evidence
by Seong-Won An and Young-Sam Kwon
Animals 2025, 15(15), 2260; https://doi.org/10.3390/ani15152260 (registering DOI) - 1 Aug 2025
Abstract
Platelet-rich plasma (PRP) is widely applied in veterinary regenerative medicine due to its rich composition of growth factors that promote tissue repair. However, the direct pro-angiogenic function of canine PRP (cPRP) has not been thoroughly validated through controlled in vitro and in vivo [...] Read more.
Platelet-rich plasma (PRP) is widely applied in veterinary regenerative medicine due to its rich composition of growth factors that promote tissue repair. However, the direct pro-angiogenic function of canine PRP (cPRP) has not been thoroughly validated through controlled in vitro and in vivo experimentation. Human umbilical vein endothelial cells (HUVECs) were used to assess cell proliferation, migration, and tube formation after exposure to cPRP. In addition, a rabbit corneal micropocket assay was employed to evaluate in vivo angiogenic responses. Treatment with 20% cPRP significantly enhanced HUVEC proliferation and migration and induced robust tube formation. In the in vivo model, we observed dose-dependent neovascularization, with the earliest vascular sprouting seen on day 1 in the 40% group. Both models consistently demonstrated that cPRP stimulates vascular development in a concentration-dependent manner. This study provides novel evidence of cPRP’s capacity to induce neovascularization, supporting its therapeutic value for treating nonhealing wounds in dogs, especially in cases involving chronic inflammation, aging, or immune dysregulation. These findings offer a scientific foundation for the broader clinical application of cPRP in veterinary regenerative practice. Full article
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12 pages, 362 KiB  
Article
Predictors and Outcomes of Right Ventricular Dysfunction in Patients Admitted to the Medical Intensive Care Unit for Sepsis—A Retrospective Cohort Study
by Raksheeth Agarwal, Shreyas Yakkali, Priyansh Shah, Rhea Vyas, Ankit Kushwaha, Ankita Krishnan, Anika Sasidharan Nair, Balaram Krishna Jagannayakulu Hanumanthu, Robert T. Faillace, Eleonora Gashi and Perminder Gulani
J. Clin. Med. 2025, 14(15), 5423; https://doi.org/10.3390/jcm14155423 (registering DOI) - 1 Aug 2025
Abstract
Background: Right ventricular (RV) dysfunction is associated with poor clinical outcomes in critically ill sepsis patients, but its pathophysiology and predictors are incompletely characterized. We aimed to investigate the predictors of RV dysfunction and its outcomes in sepsis patients admitted to the [...] Read more.
Background: Right ventricular (RV) dysfunction is associated with poor clinical outcomes in critically ill sepsis patients, but its pathophysiology and predictors are incompletely characterized. We aimed to investigate the predictors of RV dysfunction and its outcomes in sepsis patients admitted to the intensive care unit (ICU). Methods: This is a single-center retrospective cohort study of adult patients admitted to the ICU for sepsis who had echocardiography within 72 h of diagnosis. Patients with acute coronary syndrome, acute decompensated heart failure, or significant valvular dysfunction were excluded. RV dysfunction was defined as the presence of RV dilation, hypokinesis, or both. Demographics and clinical outcomes were obtained from electronic medical records. Results: A total of 361 patients were included in our study—47 with and 314 without RV dysfunction. The mean age of the population was 66.8 years and 54.6% were females. Compared to those without RV dysfunction, patients with RV dysfunction were more likely to require mechanical ventilation (63.8% vs. 43.9%, p = 0.01) and vasopressor support (61.7% vs. 36.6%, p < 0.01). On multivariate logistic regression analysis, increasing age (OR 1.03, 95% C.I. 1.00–1.06), a history of HIV infection (OR 5.88, 95% C.I. 1.57–22.11) and atrial fibrillation (OR 4.34, 95% C.I. 1.83–10.29), and presence of LV systolic dysfunction (OR 14.40, 95% C.I. 5.63–36.84) were independently associated with RV dysfunction. Patients with RV dysfunction had significantly worse 30-day survival (Log-Rank p = 0.023). On multivariate Cox regression analysis, older age (HR 1.02, 95% C.I. 1.00–1.04) and peak lactate (HR 1.16, 95% C.I. 1.11–1.21) were independent predictors of 30-day mortality. Conclusions: Among other findings, our data suggests a possible association between a history of HIV infection and RV dysfunction in critically ill sepsis patients, and this should be investigated further in future studies. Patients with evidence of RV dysfunction had poorer survival in this population; however this was not an independent predictor of mortality in the multivariate analysis. A larger cohort with a longer follow-up period may provide further insights. Full article
(This article belongs to the Section Intensive Care)
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13 pages, 724 KiB  
Article
Investigating the Diagnostic Utility of LncRNA GAS5 in NAFLD Patients
by Maysa A. Mobasher, Alaa Muqbil Alsirhani, Sahar Abdulrahman Alkhodair, Amir Abd-elhameed, Shereen A. Baioumy, Marwa M. Esawy and Marwa A. Shabana
Biomedicines 2025, 13(8), 1873; https://doi.org/10.3390/biomedicines13081873 (registering DOI) - 1 Aug 2025
Abstract
Background/Objectives: Non-alcoholic fatty liver disease (NAFLD) is one of the most common chronic liver conditions globally. This study aimed to assess the long non-coding RNAs (lncRNAs) growth arrest-specific 5 (GAS5), miR-29a-3p, and neurogenic locus notch homolog protein 2 (NOTCH2) as biomarkers in [...] Read more.
Background/Objectives: Non-alcoholic fatty liver disease (NAFLD) is one of the most common chronic liver conditions globally. This study aimed to assess the long non-coding RNAs (lncRNAs) growth arrest-specific 5 (GAS5), miR-29a-3p, and neurogenic locus notch homolog protein 2 (NOTCH2) as biomarkers in patients with NAFLD and find out if they are related to any clinical factors. Subjects and Methods: Thirty-eight age-matched healthy persons and thirty-eight NAFLD patients were enrolled. Patients were split into the following three groups: non-alcoholic steatohepatitis (NASH) (n = 12), patients with NAFLD-related cirrhosis (n = 8), and patients with NAFLD-related simple steatosis (n = 18). Real-time PCR was utilized to examine the expression. Results: The lncRNA GAS5 and NOTCH2 were higher in NAFLD cases in comparison to controls. On the other hand, microRNA-29a-3p was underexpressed in NAFLD cases in comparison to controls. Regarding NAFLD diagnosis, lncRNA GAS5 was the best single marker with a sensitivity of 100% and a specificity of 94.7% at the cutoff values of ≥1.16-fold change. Regarding different stages of the disease, the highest level of lncRNA GAS5 was in cirrhosis. lncRNA GAS5 expression, among other studied parameters, is still a significant predictor of NAFLD (adjusted odds ratio of 162, C.I. = 5.7–4629) (p = 0.003). LncRNA GAS5 has a positive correlation with NOTCH2 and a negative correlation with miR-29a-3p. LncRNA GAS5, NOTCH2, and RNA-29a-3p were significantly different in NAFLD cases compared to controls. Conclusions: lncRNA GAS5 appears to be the most effective single marker for detecting NAFLD. LncRNA GAS5 expression is a significant independent predictor of NAFLD. LncRNA GAS5 can differentiate different NAFLD stages. Full article
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15 pages, 504 KiB  
Article
Long-Term Impact of Neonatal Acute Kidney Injury on Renal Function in Children Born Preterm: A Follow-Up Study
by Tuğba Barsan Kaya, Özge Aydemir, Ozge Surmeli Onay, Evin Kocaturk, Çiğdem Öztunalı, Aslı Kavaz Tufan, Nuran Cetin, Özkan Alataş and Ayşe Neslihan Tekin
Children 2025, 12(8), 1018; https://doi.org/10.3390/children12081018 (registering DOI) - 1 Aug 2025
Abstract
Background and Objectives: The long-term renal and cardiovascular effects of neonatal acute kidney injury (AKI) in preterm infants remain unclear. This study investigated whether neonatal AKI leads to persistent subclinical kidney injury and blood pressure changes in school-aged children born preterm. Methods: In [...] Read more.
Background and Objectives: The long-term renal and cardiovascular effects of neonatal acute kidney injury (AKI) in preterm infants remain unclear. This study investigated whether neonatal AKI leads to persistent subclinical kidney injury and blood pressure changes in school-aged children born preterm. Methods: In this prospective cohort, preterm-born children (≤35 weeks’ gestation) with (n = 19) and without (n = 38) neonatal AKI were evaluated at 7–12 years. A term-born control group (n = 44) was included for biomarker comparison. Assessments included perinatal data, anthropometry, office and ambulatory blood pressure monitoring (ABPM), and renal ultrasonography. Kidney function was evaluated using serum creatinine (sCr), cystatin C, and estimated glomerular filtration rate (eGFR). Tubular injury was assessed using urinary kidney injury molecule-1/Cr (KIM-1/Cr), neutrophil gelatinase-associated lipocalin/Cr (NGAL/Cr), and trefoil factor 3/Cr (TFF3/Cr) ratios, as well as serum TFF3. Results: Conventional kidney function markers were similar among groups. However, the AKI group had higher serum cystatin C, lower cystatin C–based eGFR, and elevated urinary KIM-1/Cr and NGAL/Cr compared to no-AKI and term controls. Serum TFF3 was also higher in the AKI group. ABPM revealed higher nocturnal systolic blood pressure and blood pressure load in the AKI group. Kidney size did not differ between preterm subgroups. Conclusions: Neonatal AKI in preterm infants is associated with subtle alterations and potential renal stress or injury at school age, detectable only with sensitive biomarkers and ABPM. Further prospective studies are needed to validate these biomarkers and determine their role in predicting long-term outcomes in preterm infants with neonatal AKI. Full article
(This article belongs to the Section Pediatric Nephrology & Urology)
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15 pages, 245 KiB  
Article
Becoming Autonomous and Integrating Insulin Pump Therapy into Life: A Qualitative Analysis of Adolescent Experiences with Type 1 Diabetes Management
by Eleni C. Tzavela, Lydia Kossiva, Irine-Ikbale Sakou, George Paltoglou, Adamantini Plarinou, Spyridon Karanasios and Kyriaki Karavanaki
Diabetology 2025, 6(8), 76; https://doi.org/10.3390/diabetology6080076 (registering DOI) - 1 Aug 2025
Abstract
Objectives: This study explored perceptions, experiences, and outcomes associated with the choice of insulin therapies among pediatric patients with type 1 diabetes mellitus (T1D). Methods: This study included 20 adolescents (8 male and 12 female) with T1D, with a mean age of 15.05 [...] Read more.
Objectives: This study explored perceptions, experiences, and outcomes associated with the choice of insulin therapies among pediatric patients with type 1 diabetes mellitus (T1D). Methods: This study included 20 adolescents (8 male and 12 female) with T1D, with a mean age of 15.05 ± 0.91 years, a mean diabetes duration of 5.19 ± 1.2 years, and a mean most recent HbA1c of 7.03 ± 0.16%. Ten of the participants were using an insulin pump (n = 10) and another 10 had either refused (n = 7) or discontinued (n = 3) insulin pump therapy. A qualitative inductive method was employed, using in-depth individual interviews. The interview material was transcribed verbatim and grounded theory was used to analyze the verbal material. Results: Four main thematic categories were identified from the narrations that captured both common and divergent perceptions of insulin pump users versus non-users: (1) adjusting to the lifelong diagnosis, (2) exposing diabetes versus hiding it, (3) becoming autonomous and integrating insulin pump therapy into daily life, and (4) worrying over the pump. The third theme, capturing autonomy and integration, surfaced as the core thematic category of this study. Conclusions: This grounded theory study revealed that, by using insulin pump therapy, adolescent T1D patients can enhance their autonomy and facilitate the integration of insulin treatment into their life. This study identified processes that inform diabetes education and contribute to ameliorating gaps in the uptake and maintenance of pump therapy in pediatric care. Full article
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12 pages, 954 KiB  
Article
Health-Related Quality of Life and Internalising Symptoms in Romanian Children with Congenital Cardiac Malformations: A Single-Centre Cross-Sectional Analysis
by Andrada Ioana Dumitru, Andreea Mihaela Kis, Mihail-Alexandru Badea, Adrian Lacatusu and Marioara Boia
Healthcare 2025, 13(15), 1882; https://doi.org/10.3390/healthcare13151882 - 1 Aug 2025
Abstract
Background and Objectives: Although survival after congenital cardiac malformations (CCM) has improved, little is known about Romanian children’s own perceptions of health-related quality of life (HRQoL) or their emotional burden. We compared HRQoL, depressive symptoms, and anxiety across lesion severity strata and [...] Read more.
Background and Objectives: Although survival after congenital cardiac malformations (CCM) has improved, little is known about Romanian children’s own perceptions of health-related quality of life (HRQoL) or their emotional burden. We compared HRQoL, depressive symptoms, and anxiety across lesion severity strata and explored clinical predictors of impaired HRQoL. Methods: In this cross-sectional study (1 May 2023–30 April 2025), 72 children (mean age 7.9 ± 3.0 years, 52.8% male) attending a tertiary cardiology clinic completed the Romanian-validated Pediatric Quality of Life Inventory (PedsQL), Children’s Depression Inventory (CDI) and the Screen for Child Anxiety-Related Emotional Disorders questionnaire (SCARED-C, child version). Lesions were classified as mild (n = 22), moderate (n = 34), or severe (n = 16). Left-ventricular ejection fraction (LVEF) and unplanned cardiac hospitalisations over the preceding 12 months were extracted from electronic records. Results: Mean PedsQL total scores declined stepwise by severity (mild 80.9 ± 7.3; moderate 71.2 ± 8.4; severe 63.1 ± 5.4; p < 0.001). CDI and SCARED-C scores rose correspondingly (CDI: 9.5 ± 3.0, 13.6 ± 4.0, 18.0 ± 2.7; anxiety: 15.2 ± 3.3, 17.2 ± 3.8, 24.0 ± 3.4; both p < 0.001). PedsQL correlated positively with LVEF (r = 0.51, p < 0.001) and negatively with hospitalisations (r = −0.39, p = 0.001), depression (r = −0.44, p < 0.001), and anxiety (r = −0.47, p < 0.001). In multivariable analysis, anatomical severity remained the sole independent predictor of lower HRQoL (β = −8.4 points per severity tier, p < 0.001; model R2 = 0.45). Children with ≥ 1 hospitalisation (n = 42) reported poorer HRQoL (69.6 ± 8.0 vs. 76.1 ± 11.1; p = 0.005) and higher depressive scores (p < 0.001). Conclusions: HRQoL and internalising symptoms in Romanian children with CCM worsen with increasing anatomical complexity and recent hospital utilisation. The severity tier outweighed functional markers as the main determinant of HRQoL, suggesting that psychosocial screening and support should be scaled to lesion complexity. Integrating the routine use of the Romanian-validated PedsQL, CDI, and SCARED-C questionnaire into cardiology follow-up may help identify vulnerable patients early and guide targeted interventions. Full article
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11 pages, 1914 KiB  
Case Report
Case Report of Nephrogenic Diabetes Insipidus with a Novel Mutation in the AQP2 Gene
by Alejandro Padilla-Guzmán, Vanessa Amparo Ochoa-Jiménez, Jessica María Forero-Delgadillo, Karen Apraez-Murillo, Harry Pachajoa and Jaime M. Restrepo
Int. J. Mol. Sci. 2025, 26(15), 7415; https://doi.org/10.3390/ijms26157415 (registering DOI) - 1 Aug 2025
Abstract
Nephrogenic diabetes insipidus (NDI) is a rare hereditary disorder characterized by renal resistance to arginine vasopressin (AVP), resulting in the kidneys’ inability to concentrate urine. Approximately 90% of NDI cases follow an X-linked inheritance pattern and are associated with pathogenic variants in the [...] Read more.
Nephrogenic diabetes insipidus (NDI) is a rare hereditary disorder characterized by renal resistance to arginine vasopressin (AVP), resulting in the kidneys’ inability to concentrate urine. Approximately 90% of NDI cases follow an X-linked inheritance pattern and are associated with pathogenic variants in the AVPR2 gene, which encodes the vasopressin receptor type 2. The remaining 10% are attributed to mutations in the AQP2 gene, which encodes aquaporin-2, and may follow either autosomal dominant or recessive inheritance patterns. We present the case of a male infant, younger than nine months of age, who was clinically diagnosed with NDI at six months. The patient presented recurrent episodes of polydipsia, polyuria, dehydration, hypernatremia, and persistently low urine osmolality. Despite adjustments in pharmacologic treatment and strict monitoring of urinary output, the clinical response remained suboptimal. Given the lack of improvement and the radiological finding of an absent posterior pituitary (neurohypophysis), the possibility of coexistent central diabetes insipidus (CDI) was raised, prompting a therapeutic trial with desmopressin. Nevertheless, in the absence of clinical improvement, desmopressin was discontinued. The patient’s management was continued with hydrochlorothiazide, ibuprofen, and a high-calorie diet restricted in sodium and protein, resulting in progressive clinical stabilization. Whole-exome sequencing identified a novel homozygous missense variant in the AQP2 gene (c.398T > A; p.Val133Glu), classified as likely pathogenic according to the American College of Medical Genetics and Genomics (ACMG) criteria: PM2 (absent from population databases), PP2 (missense variant in a gene with a low rate of benign missense variation), and PP3 (multiple lines of computational evidence supporting a deleterious effect)]. NDI is typically diagnosed during early infancy due to the early onset of symptoms and the potential for severe complications if left untreated. In this case, although initial clinical suspicion included concomitant CDI, the timely initiation of supportive management and the subsequent incorporation of molecular diagnostics facilitated a definitive diagnosis. The identification of a previously unreported homozygous variant in AQP2 contributed to diagnostic confirmation and therapeutic decision-making. The diagnosis and comprehensive management of NDI within the context of polyuria-polydipsia syndrome necessitates a multidisciplinary approach, integrating clinical evaluation with advanced molecular diagnostics. The novel AQP2 c.398T > A (p.Val133Glu) variant described herein was associated with early and severe clinical manifestations, underscoring the importance of genetic testing in atypical or treatment-refractory presentations of diabetes insipidus. Full article
(This article belongs to the Special Issue A Molecular Perspective on the Genetics of Kidney Diseases)
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12 pages, 269 KiB  
Article
Exploring the Interplay Between Glycated Albumin, AGEs, and Inflammation in Old Patients with CKD
by Simone Vettoretti, Lara Caldiroli, Paolo Molinari, Amanda Villa, Massimiliano M. Corsi Romanelli, Elena Vianello, Elena Dozio and Simonetta Genovesi
Metabolites 2025, 15(8), 515; https://doi.org/10.3390/metabo15080515 (registering DOI) - 1 Aug 2025
Abstract
Introduction: Chronic kidney disease (CKD) increases cardiovascular risk through mechanisms such as oxidative stress and the accumulation of advanced glycation end products (AGEs). Glycated albumin (GA) is associated with cardiovascular risk in CKD patients, but its relationship with AGEs and systemic inflammation remains [...] Read more.
Introduction: Chronic kidney disease (CKD) increases cardiovascular risk through mechanisms such as oxidative stress and the accumulation of advanced glycation end products (AGEs). Glycated albumin (GA) is associated with cardiovascular risk in CKD patients, but its relationship with AGEs and systemic inflammation remains unclear. This study investigated these associations in old patients with severe CKD, with and without diabetes. Methods: We conducted a cross-sectional analysis in 122 patients aged ≥ 65 years with CKD stages G3a–G5, including 67 diabetics and 55 non-diabetics. Patients with confounding comorbidities were excluded. We measured GA, AGEs, various AGEs receptors (RAGE) isoforms, and inflammatory cytokines (CRP, IL-6, TNFα, and MCP-1) using standardized assays. Statistical analyses included group comparisons, correlation coefficients, and multivariate regression. Results: Of 122 patients (mean age 77.7 ± 11.3 years), diabetics had higher GA percentages than non-diabetics (22.0 ± 7.1% vs. 17.5 ± 5.4%, p = 0.0001), while AGEs (2931 ± 763 vs. 3156 ± 809 AU; p = 0.118) and inflammatory markers (CRP 0.240[0.380] vs. 0.200[0.280] mg/dL; p = 0.142; IL-6 3.4[4.0] vs. 3.0[3.8] pg/mL; p = 0.238) were similar between groups. Overall, GA was inversely correlated with estimated glomerular filtration rate (eGFR) (ρ = −0.189, p = 0.037) and positively with glycated hemoglobin (HbA1c) (ρ = 0.525, p < 0.0001), but showed no significant correlation with AGEs, RAGE isoforms, or inflammatory cytokines. In multivariate analysis, only HbA1c remained independently associated with GA (β = 0.222, p = 0.005). Conclusions: In old patients with severe CKD, GA appears to be a more useful marker of glycemic control than glycation stress, the latter of which is the result of multiple factors, including impaired kidney function and systemic inflammation. Full article
12 pages, 788 KiB  
Article
Gut Microbial Composition on Dienogest Therapy in Patients with Endometriosis
by Veronika Pronina, Pavel Denisov, Vera Muravieva, Alexey Skorobogatiy, Ksenia Zhigalova, Galina Chernukha, Gennady Sukhikh and Tatiana Priputnevich
Microbiol. Res. 2025, 16(8), 169; https://doi.org/10.3390/microbiolres16080169 - 1 Aug 2025
Abstract
Endometriosis is a chronic inflammatory condition affecting approximately 10% of women of reproductive age, characterized by pelvic pain, dysmenorrhea, and infertility. Emerging evidence suggests a potential link between gut microbiota dysbiosis and endometriosis pathogenesis, mediated through hormonal regulation, immune modulation, and systemic inflammation. [...] Read more.
Endometriosis is a chronic inflammatory condition affecting approximately 10% of women of reproductive age, characterized by pelvic pain, dysmenorrhea, and infertility. Emerging evidence suggests a potential link between gut microbiota dysbiosis and endometriosis pathogenesis, mediated through hormonal regulation, immune modulation, and systemic inflammation. Dienogest (DNG) is widely used for endometriosis management, but its effects on gut microbiota remain underexplored. This study investigates the impact of DNG on gut microbial composition in endometriosis patients, aiming to elucidate its therapeutic mechanisms beyond hormonal modulation. DNG therapy led to a significant reduction in the Bacillota/Bacteroidota ratio (p = 0.0421), driven by decreased Staphylococcus spp. (p = 0.0244) and increased commensal bacteria such as Lactobacillus spp. and Collinsella aerofaciens (p = 0.049). Species richness and alpha diversity indices showed a non-significant upward trend. Notably, C. aerofaciens, a butyrate producer linked to gut barrier integrity, was detected twice as frequently during therapy. The study also observed reductions in facultative anaerobes like Enterococcus spp. and a trend toward higher titers of beneficial Bacteroidota. This study provides the first evidence that DNG therapy modulates gut microbiota in endometriosis patients, favoring a composition associated with anti-inflammatory and barrier-protective effects. The observed shifts—reduced opportunistic pathogens and increased symbionts—suggest a novel mechanism for DNG’s efficacy, potentially involving the microbial regulation of estrogen metabolism and immune responses. Full article
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21 pages, 1379 KiB  
Article
Stream Temperature, Density Dependence, Catchment Size, and Physical Habitat: Understanding Salmonid Size Variation Across Small Streams
by Kyle D. Martens and Warren D. Devine
Fishes 2025, 10(8), 368; https://doi.org/10.3390/fishes10080368 (registering DOI) - 1 Aug 2025
Abstract
The average body size (fork length) of juvenile salmonids in small streams varies across landscapes and can be influenced by stream temperature, density dependence, catchment size, and physical habitat. In this study, we compared sets of 16 mixed-effects linear models representing these four [...] Read more.
The average body size (fork length) of juvenile salmonids in small streams varies across landscapes and can be influenced by stream temperature, density dependence, catchment size, and physical habitat. In this study, we compared sets of 16 mixed-effects linear models representing these four potentially influencing indicators for three species/age classes to assess the relative importance of their influences on body size. The global model containing all indicators was the most parsimonious model for juvenile coho salmon (Oncorhynchus kisutch; R2m = 0.4581, R2c = 0.5859), age-0 trout (R2m = 0.4117, R2c = 0.5968), and age-1 or older coastal cutthroat trout (O. clarkii; R2m = 0.2407, R2c = 0.5188). Contrary to expectations, salmonid density, catchment size, and physical habitat metrics contributed more to the top models for both coho salmon and age-1 or older cutthroat trout than stream temperature metrics. However, a stream temperature metric, accumulated degree days, had the only significant relationship (positive) of the indicators with body size in age-0 trout (95% CI 1.58 to 23.04). Our analysis identifies complex relationships between salmonid body size and environmental influences, such as the importance of physical habitat such as pool size and boulders. However, management or restoration actions aimed at improving or preventing anticipated declines in physical habitat such as adding instream wood or actions that may lead to increasing pool area have potential to ensure a natural range of salmonid body sizes across watersheds. Full article
(This article belongs to the Special Issue Habitat as a Template for Life Histories of Fish)
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12 pages, 380 KiB  
Article
The Impact of Parasitic Infections on Anaemia in Adolescent Athletes: A South American Perspective from Tacna, Peru, 2023
by Anthony Brayan Rivera Prado, Kelly Geraldine Yparraguirre Salcedo, Luis Lloja Lozano, Vicente Freddy Chambilla Quispe and Claudio Willbert Ramirez Atencio
Parasitologia 2025, 5(3), 39; https://doi.org/10.3390/parasitologia5030039 (registering DOI) - 1 Aug 2025
Abstract
Background: Anaemia in adolescents can be influenced by parasitic infections, systemic inflammation, and nutritional status. Objective: To determine whether C-reactive protein (CRP), nutritional status, and infection with Ascaris lumbricoides, Giardia lamblia, or Trichuris trichiura are associated with anaemia in adolescent athletes [...] Read more.
Background: Anaemia in adolescents can be influenced by parasitic infections, systemic inflammation, and nutritional status. Objective: To determine whether C-reactive protein (CRP), nutritional status, and infection with Ascaris lumbricoides, Giardia lamblia, or Trichuris trichiura are associated with anaemia in adolescent athletes from Tacna compared to non-athletes. Methods: A cross-sectional study was conducted involving 250 male football players aged 13–18 years and 150 age-matched non-athletes. Haemoglobin, haematocrit, ferritin, serum iron, CRP, and parasitic status were measured; mean comparisons and logistic regression were applied. Results: Anaemia was more prevalent among athletes than non-athletes (30% vs. 18%; p < 0.001). Infected athletes showed lower haemoglobin (11.9 ± 1.1 g/dL) and higher CRP (5.0 ± 1.9 mg/L) levels compared to non-infected athletes (13.8 ± 1.0 g/dL and 2.2 ± 1.1 mg/L; p < 0.001). Logistic regression identified CRP as an independent predictor of anaemia (adjusted OR = 1.20; 95% CI: 1.08–1.38; p < 0.001), while parasitic infections showed no direct association after adjustment. Underweight status was associated with a higher prevalence of anaemia (36%). Conclusions: Systemic inflammation emerged as the main factor associated with anaemia in this population, with parasitic infections contributing indirectly by increasing inflammation. Periodic deworming, iron supplementation, and CRP monitoring are recommended to reduce the burden of anaemia in adolescent athletes from endemic regions. Full article
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