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14 pages, 379 KiB  
Article
Functional and Emotional Impact of Dry Eye and Meibomian Gland Dysfunction in Keratoconus
by Liat Gantz, Avi Besser, Rivki Bloom and Reut Ifrah
Biomedicines 2025, 13(8), 1918; https://doi.org/10.3390/biomedicines13081918 - 6 Aug 2025
Abstract
Background/Objectives: Dry eye (DE) can cause persistent eye rubbing, contributing to keratoconus (KC) development and progression. Both keratoconus (KC) and dry eye (DE) significantly impact patients’ functional and emotional well-being, with KC patients exhibiting a higher prevalence of DE symptoms and signs. [...] Read more.
Background/Objectives: Dry eye (DE) can cause persistent eye rubbing, contributing to keratoconus (KC) development and progression. Both keratoconus (KC) and dry eye (DE) significantly impact patients’ functional and emotional well-being, with KC patients exhibiting a higher prevalence of DE symptoms and signs. This study examined whether functional (KEPAQ-F) and emotional (KEPAQ-E) quality of life, assessed by the Keratoconus End-Points Assessment Questionnaire, differ when influenced by symptoms and clinical signs of general DE versus meibomian gland dysfunction (MGD) in KC patients. Methods: Volunteers with KC (ages 18–70) underwent DE and MGD assessments, completing OSDI, MGD (MGDQ), and KEPAQ questionnaires. Clinical measures included NITBUT, Schirmer, and meibography. Pearson correlations and path analysis assessed relationships between DE and MGD symptoms and KEPAQ-F/E. Results: Forty-five KC participants (mean age: 45 ± 13, range: 20–69 years, 25 males) were enrolled; 22 (49%) had DE, and 15 (33%) had MGD. Significant correlations were observed between KEPAQ-E (2.9 ± 3.0 Logit) and KEPAQ-F (1.7 ± 3.0 Logit) scores with OSDI (26.5 ± 26.7) and MGDQ (3.3 ± 2.2) scores, and all Belin outcome measures A-D for all participants. In participants with diagnosed dry eye, KEPAQ E and F were also significantly correlated with loss of meibomian glands in the lower eyelids (R = −0.44, p = 0.04). Path analysis showed both DE and MGD were negatively correlated with lower KEPAQ-E and KEPAQ-F scores, with DE symptoms were more influential (p < 0.05). The model explained 42% of the KEPAQ-E variance and 41% of the KEPAQ-F variance. Conclusions: Emotional and functional quality of life in KC is significantly and negatively related to DE and MGD symptoms, with DE symptoms exhibiting a greater impact. Furthermore, greater loss of meibomian glands in the lower eyelids is significantly associated with reduced emotional and functional KEPAQ scores in DE patients. These results underscore the critical importance of evaluating DE in KC to improve patient-reported outcomes. Full article
(This article belongs to the Special Issue Recent Research on Dry Eye)
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11 pages, 592 KiB  
Systematic Review
Lermoyez Syndrome: A Systematic Review and Narrative Synthesis of Reported Cases
by Giorgos Sideris, Leonidas Katsis, Styliani Karle and George Korres
Audiol. Res. 2025, 15(4), 98; https://doi.org/10.3390/audiolres15040098 (registering DOI) - 6 Aug 2025
Abstract
Objectives: Lermoyez syndrome (LS) is a rare variant of endolymphatic hydrops with a unique clinical presentation characterized by reversible sensorineural hearing loss preceding vertigo. This review aims to synthesize available literature on LS to clarify its clinical characteristics, diagnostic approach, management strategies, and [...] Read more.
Objectives: Lermoyez syndrome (LS) is a rare variant of endolymphatic hydrops with a unique clinical presentation characterized by reversible sensorineural hearing loss preceding vertigo. This review aims to synthesize available literature on LS to clarify its clinical characteristics, diagnostic approach, management strategies, and outcomes, and to highlight the distinguishing features from Menière’s disease (MD). Methods: A systematic literature review according to PRISMA guidelines was conducted from 1919 to 2025. The extracted data included demographics, symptom profiles, audiovestibular testing, imaging findings, treatment approaches, and patient outcomes. Results: A total of 23 studies were identified, reporting 53 individual cases of LS. Patients ranged from 27 to 85 years of age, with a mean age of 50.34 years and a male predominance (64.1%). The hallmark of LS across cases was a reproducible clinical pattern of unilateral low-frequency hearing loss followed by vertigo and subsequent auditory recovery. Audiometry typically confirmed reversible sensorineural hearing loss, while vestibular tests and imaging were often unremarkable, primarily used to exclude alternative diagnoses. Treatment approaches varied and were often based on MD protocols, including dietary modifications, vasodilators, diuretics, and vestibular suppressants. Prognosis was generally favorable, with most patients experiencing both hearing recovery and symptom resolution. Conclusions: LS remains a clinically distinct but underrecognized inner ear disorder. Its defining feature—the paradoxical improvement in hearing after vertigo—distinguishes it from Menière’s disease and should prompt clinicians to consider LS in differential diagnosis. Due to the rarity of LS and the lack of standardized guidelines, diagnosis and treatment rely on careful clinical assessment and individualized management strategies. Full article
(This article belongs to the Section Balance)
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10 pages, 209 KiB  
Article
“Hangry” in Forensic Psychiatry? Analysis of the Relationship Between Eating Disorders and Aggressive Behavior in Patients with Substance Use Disorders
by Judith Streb, Tinatin Deisenhofer, Samira Schneider, Victoria Peters and Manuela Dudeck
Brain Sci. 2025, 15(8), 836; https://doi.org/10.3390/brainsci15080836 - 4 Aug 2025
Viewed by 146
Abstract
Background/Objectives: Substance use disorders and eating disorders frequently co-occur and are both associated with increased aggression. As a result, individuals with these conditions are overrepresented in prison populations. The present study investigated whether symptoms of eating disorders in male forensic psychiatric inpatients [...] Read more.
Background/Objectives: Substance use disorders and eating disorders frequently co-occur and are both associated with increased aggression. As a result, individuals with these conditions are overrepresented in prison populations. The present study investigated whether symptoms of eating disorders in male forensic psychiatric inpatients with substance use disorders are associated with heightened aggression. To this end, various forms of aggressive behavior—including spontaneous and reactive aggression, excitability, and violent offenses—were analyzed. Methods: Fifty-six male patients from two forensic psychiatric hospitals in Germany participated in the study. Symptoms of eating disorders were evaluated with the German version of the Eating Disorder Examination Questionnaire (EDE-Q), and aggression was measured with the Short Questionnaire for the Assessment of Aggression Factors (K-FAF) and by considering the violent index offense. Data were analyzed by generalized linear models, with age and body mass index (BMI) included as covariates. Results: Higher EDE-Q scores significantly predicted increased spontaneous aggression and excitability. However, no significant association was found between eating disorder symptoms and reactive aggression or the likelihood of a violent index offense. Age and BMI did not significantly influence any aggression subscales. Conclusions: The findings suggest that in patients with substance use disorder, eating disorder symptoms may be linked to heightened internalized forms of aggression. These results support the clinical relevance of screening for eating disorder symptoms in forensic psychiatric settings and integrating dietary interventions into therapeutic efforts to manage aggression. Full article
(This article belongs to the Special Issue Substance Abuse in the Psychiatric Population)
11 pages, 579 KiB  
Case Report
Thirty-Three Years Follow-Up of a Greek Family with Abetalipoproteinemia: Absence of Liver Damage on Long-Term Medium Chain Triglycerides Supplementation
by John K. Triantafillidis, Areti Manioti, Theodoros Pittaras, Theodoros Kozonis, Emmanouil Kritsotakis, Georgios Malgarinos, Konstantinos Pantos, Konstantinos Sfakianoudis, Manousos M. Konstadoulakis and Apostolos E. Papalois
J. Pers. Med. 2025, 15(8), 354; https://doi.org/10.3390/jpm15080354 - 4 Aug 2025
Viewed by 127
Abstract
Background: The long-term clinical and laboratory results of a 33-year follow-up of a Greek family with abetalipoproteinemia (ABL) are described. Case Report: The patients (two brothers and their sister, aged 57, 49, and 62 years, respectively) are still alive, being under close surveillance. [...] Read more.
Background: The long-term clinical and laboratory results of a 33-year follow-up of a Greek family with abetalipoproteinemia (ABL) are described. Case Report: The patients (two brothers and their sister, aged 57, 49, and 62 years, respectively) are still alive, being under close surveillance. In two of the three patients, diarrhea appeared in early infancy, while in the third, it appeared during adolescence. CNS symptomatology worsened after the second decade of life. At the same time, night blindness appeared in the advanced stages of the disease, resulting in almost complete loss of vision in one of the male patients and severe impairment in the other. The diagnosis was based on the clinical picture, ophthalmological findings, serum lipid estimations, and presence of peripheral acanthocytosis. All patients exhibited typical serum lipidemic profile, ophthalmological findings, and acanthocytes in the peripheral blood. During the follow-up period, strict dietary modifications were applied, including the substitution of fat with medium-chain triglycerides (MCT oil). After 33 years since the initial diagnosis, all patients are alive without any sign of liver dysfunction despite continuous use of MCT oil. However, symptoms from the central nervous system and vision impairment worsened. Conclusion: The course of these patients suggests that the application of a modified diet, including MCT oil, along with close surveillance, could prolong the survival of patients without significant side effects from the liver. Full article
(This article belongs to the Special Issue Clinical and Experimental Surgery in Personalized Molecular Medicine)
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17 pages, 741 KiB  
Article
Changes in Cardiac Function and Exercise Capacity Following Ferric Carboxymaltose Administration in HFrEF Patients with Iron Deficiency
by Anastasios Tsarouchas, Constantinos Bakogiannis, Dimitrios Mouselimis, Christodoulos E. Papadopoulos, Efstratios K. Theofillogiannakos, Efstathios D. Pagourelias, Ioannis Kelemanis, Aristi. Boulmpou, Antonios P. Antoniadis, Nikolaos Fragakis, Georgios Efthimiadis, Theodoros D. Karamitsos and Vassilios P. Vassilikos
Diagnostics 2025, 15(15), 1941; https://doi.org/10.3390/diagnostics15151941 - 2 Aug 2025
Viewed by 226
Abstract
Background/Objectives: Iron deficiency (ID) is a common and prognostically relevant comorbidity in heart failure with reduced ejection fraction (HFrEF). It contributes to reduced functional status, exercise capacity, and survival. Intravenous ferric carboxymaltose (FCM) improves symptoms, but its effect on cardiac structure and function [...] Read more.
Background/Objectives: Iron deficiency (ID) is a common and prognostically relevant comorbidity in heart failure with reduced ejection fraction (HFrEF). It contributes to reduced functional status, exercise capacity, and survival. Intravenous ferric carboxymaltose (FCM) improves symptoms, but its effect on cardiac structure and function remains incompletely understood. The aim of this study was to assess the impact of intravenous FCM on echocardiographic indices of left ventricular (LV), left atrial (LA), and right ventricular (RV) morphology and function in HFrEF patients with ID and determine whether these changes correlate with improvements in exercise capacity. Methods: This sub-analysis of the RESAFE-HF registry (NCT04974021) included 86 HFrEF patients with ID (median age 71.8 years, 83% male). Transthoracic echocardiography was performed at baseline and 12 months post-FCM. Parameters assessed included LV ejection fraction (LVEF), LV global longitudinal strain (GLS), LV diastolic function grade, LAVi, LA strain, TAPSE, and RV free wall strain (FWS). Peak VO2 was measured to assess exercise capacity. Results: LVEF improved from 29.3 ± 7.8% to 32.5 ± 10.6% (p < 0.001), LV GLS from −7.89% to −8.62%, and the LV diastolic dysfunction grade improved (p < 0.001). LAVi, peak LA strain, TAPSE, and RV FWS also showed significant improvement. Peak VO2 increased from 11.3 ± 3.2 to 12.1 ± 4.1 mL/min/kg (p < 0.001). Improvements in LVEF, RV FWS, and LV GLS were independent predictors of VO2 increase (p < 0.001, p < 0.001, and p = 0.01, respectively), explaining 42% of the variance. Conclusions: FCM therapy improves biventricular and atrial function, with echocardiographic gains correlating with an enhanced exercise capacity in HFrEF patients with ID. Full article
(This article belongs to the Section Clinical Diagnosis and Prognosis)
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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
Viewed by 193
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 - 1 Aug 2025
Viewed by 148
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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23 pages, 1447 KiB  
Article
Heat Risk Perception and Vulnerability in Puerto Rico: Insights for Climate Adaptation in the Caribbean
by Brenda Guzman-Colon, Zack Guido, Claudia P. Amaya-Ardila, Laura T. Cabrera-Rivera and Pablo A. Méndez-Lázaro
Int. J. Environ. Res. Public Health 2025, 22(8), 1197; https://doi.org/10.3390/ijerph22081197 - 31 Jul 2025
Viewed by 236
Abstract
Extreme heat poses growing health risks in tropical regions, yet public perception of this threat remains understudied in the Caribbean. This study examines how residents in Puerto Rico perceived heat-related health risks and how these perceptions relate to vulnerability and protective behaviors during [...] Read more.
Extreme heat poses growing health risks in tropical regions, yet public perception of this threat remains understudied in the Caribbean. This study examines how residents in Puerto Rico perceived heat-related health risks and how these perceptions relate to vulnerability and protective behaviors during the extreme heat events of the summer of 2020. We conducted a cross-sectional telephone survey of 500 adults across metropolitan and non-metropolitan areas of Puerto Rico, using stratified probability sampling. The questionnaire assessed heat risk perception, sociodemographic characteristics, health status, prior heat exposure, and heat-related behaviors. While most participants expressed concern about climate change and high temperatures, fewer than half perceived heat as a high level of personal health risk. Higher levels of risk perception were significantly associated with being male, aged 50–64, unemployed, and in fair health, having multiple chronic conditions, and prior experience with heat-related symptoms. Those with symptoms were nearly five times more likely to report high levels of risk perception (OR = 4.94, 95% CI: 2.93–8.34). In contrast, older adults (65+), despite their higher level of vulnerability, reported lower levels of risk perception and fewer symptoms. Nighttime heat exposure was widespread and strongly associated with heat-related symptoms. Common coping strategies included the use of fans and air conditioning, though economic constraints and infrastructure instability limited access. The findings highlight the disparity between actual and perceived vulnerability, particularly among older adults. Public health strategies should focus on risk communication tailored to vulnerable groups and address barriers to heat adaptation. Strengthening heat resilience in Puerto Rico requires improved infrastructure, equitable access to cooling, and targeted outreach. Full article
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22 pages, 2677 KiB  
Article
Prevalence of Temporomandibular Disorder Symptoms Among Dental Students at the Faculty of Dental Medicine in Iași: A Self-Reported Study Based on DC/TMD Criteria
by Eugenia Larisa Tarevici, Oana Tanculescu, Alina Mihaela Apostu, Sorina Mihaela Solomon, Alice-Teodora Rotaru-Costin, Adrian Doloca, Petronela Bodnar, Vlad Stefan Proca, Alice-Arina Ciocan-Pendefunda, Monica Tatarciuc, Valeriu Fala and Marina Cristina Iuliana Iordache
Diagnostics 2025, 15(15), 1908; https://doi.org/10.3390/diagnostics15151908 - 30 Jul 2025
Viewed by 258
Abstract
Temporomandibular disorders (TMDs) encompass a heterogeneous group of musculoskeletal and neuromuscular conditions affecting the temporomandibular joint (TMJ) and masticatory system. Due to academic stress and parafunctional habits, dental students may be particularly vulnerable to TMD. Objective: To determine the prevalence of TMD symptoms [...] Read more.
Temporomandibular disorders (TMDs) encompass a heterogeneous group of musculoskeletal and neuromuscular conditions affecting the temporomandibular joint (TMJ) and masticatory system. Due to academic stress and parafunctional habits, dental students may be particularly vulnerable to TMD. Objective: To determine the prevalence of TMD symptoms and their psychosocial and functional correlates among students at the Faculty of Dental Medicine, UMPh Iasi, Romania, using the diagnostic criteria for TMD (DC/TMD) self-report axis and axis II instruments. Methods: In this cross-sectional survey, 356 volunteer students (66.0% female; mean age, 22.9 ± 3.6 years) out of a total population of 1874 completed an online DC/TMD–based questionnaire. Axis I assessed orofacial pain, joint noises, and mandibular locking. Axis II instruments included the Graded Chronic Pain Scale (GCPS), Jaw Functional Limitation Scale (JFLS-20), Patient Health Questionnaire (PHQ-9), Generalized Anxiety Disorder-7 (GAD-7), and Oral Behaviors Checklist (OBC). Descriptive statistics summarized frequencies, means, and standard deviations; χ2 tests and t-tests compared subgroups by sex; Pearson correlations explored relationships among continuous measures (α = 0.05). Results: A total of 5% of respondents reported orofacial pain in the past 30 days; 41.6% observed TMJ noises; 19.7% experienced locking episodes. Mean JFLS score was 28.3 ± 30.5, with 4.8% scoring > 80 (severe limitation). Mean PHQ-9 was 5.96 ± 5.37 (mild depression); 15.5% scored ≥ 10. Mean GAD-7 was 5.20 ± 4.95 (mild anxiety); 16.0% scored ≥ 10. Mean OBC score was 12.3 ± 8.5; 30.1% scored ≥ 16, indicating frequent parafunctional habits. Symptom prevalence was similar by sex, except temporal headache (43.4% females vs. 24.3% males; p = 0.0008). Females reported higher mean scores for pain intensity (2.09 vs. 1.55; p = 0.0013), JFLS (32.5 vs. 18.0; p < 0.001), PHQ-9 (6.43 vs. 5.16; p = 0.048), and OBC (13.9 vs. 9.7; p = 0.0014). Strong correlation was observed between PHQ-9 and GAD-7 (r = 0.74; p < 0.001); moderate correlations were observed between pain intensity and PHQ-9 (r = 0.31) or GAD-7 (r = 0.30), between JFLS and pain intensity (r = 0.33), and between OBC and PHQ-9 (r = 0.39) (all p < 0.001). Conclusions: Nearly half of dental students reported TMD symptoms, with appreciable functional limitation and psychosocial impact. Parafunctional behaviors and psychological distress were significantly associated with pain and dysfunction. These findings underscore the need for early screening, stress-management interventions, and interdisciplinary care strategies in the dental student population. Full article
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18 pages, 1965 KiB  
Article
Barriers to Seeking Medical Care for Hemorrhoidal Symptoms: A Cross-Sectional Observational Study
by Adrian Cote, Roxana Loriana Negrut, Bogdan Feder, Ioan Andrei Antal, Maur Sebastian Horgos, Emilia Tomescu and Adrian Marius Maghiar
J. Clin. Med. 2025, 14(15), 5361; https://doi.org/10.3390/jcm14155361 - 29 Jul 2025
Viewed by 212
Abstract
Background: Despite their high prevalence and potential for significant morbidity, hemorrhoidal symptoms remain underreported and undertreated. Misconceptions and stigma may delay care-seeking behaviors and negatively influence patient outcomes. Methods: We conducted a cross-sectional, questionnaire-based study in Romania to assess public awareness, attitudes, and [...] Read more.
Background: Despite their high prevalence and potential for significant morbidity, hemorrhoidal symptoms remain underreported and undertreated. Misconceptions and stigma may delay care-seeking behaviors and negatively influence patient outcomes. Methods: We conducted a cross-sectional, questionnaire-based study in Romania to assess public awareness, attitudes, and barriers related to hemorrhoidal disease. The survey included 185 participants and evaluated variables such as symptom severity, understanding of the condition, perceived stigma, and willingness to consult a physician. Results: Only 30.8% of participants had sought medical advice for hemorrhoidal symptoms. Younger age (p < 0.001), male sex (p = 0.013), and lower levels of perceived severity were significantly associated with reluctance to seek medical care. The most frequently reported barriers were embarrassment and fear of invasive diagnostic procedures. Colonoscopy and digital rectal examination were identified as major deterrents by 39.5% and 38.9% of respondents, respectively. Educational level influenced both the perceived understanding of the disease (p = 0.001) and comfort in discussing anal symptoms (p = 0.002). Gender preference for physicians was significantly associated with respondent sex (p = 0.007) but not with education or age. Conclusions: Hemorrhoidal disease remains a stigmatized and underestimated condition. Public health efforts should prioritize educational interventions, destigmatization campaigns, and improved physician–patient communication to facilitate earlier diagnosis and better disease management. Full article
(This article belongs to the Section Gastroenterology & Hepatopancreatobiliary Medicine)
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26 pages, 1576 KiB  
Article
Registry-Based Frequency and Clinical Characteristics of Inborn Errors of Immunity in Kazakhstan: A Retrospective Observational Cohort Study (2009–2023)
by Nurgul Sikhayeva, Elena Kovzel, Svetlana Volodchenko, Aiganym Toleuzhanova, Gulnar Tortayeva, Gulmira Bukibayeva, Zhanar Zhussupbayeva and Marina Morenko
J. Clin. Med. 2025, 14(15), 5353; https://doi.org/10.3390/jcm14155353 - 29 Jul 2025
Viewed by 346
Abstract
Background/Objectives: Inborn errors of immunity (IEIs) represent a wide spectrum of diseases characterized by a predisposition to recurrent infections, as well as increased susceptibility to autoimmune, atopic, and autoinflammatory diseases and malignancies. The aim of this study was to report the registry-based [...] Read more.
Background/Objectives: Inborn errors of immunity (IEIs) represent a wide spectrum of diseases characterized by a predisposition to recurrent infections, as well as increased susceptibility to autoimmune, atopic, and autoinflammatory diseases and malignancies. The aim of this study was to report the registry-based frequency and describe the clinical characteristics of IEIs among patients in the Republic of Kazakhstan. Methods: We analyzed data from 269 patients belonging to 204 families who were either self-referred or referred by healthcare providers to the University Medical Center of Nazarbayev University with suspected IEIs. All patients resided in various regions across Kazakhstan. Results: A total of 269 diagnosed cases were identified in the national registry. The estimated prevalence was 1.3 per 100,000 population. The gender ratio was nearly equal, with 139 males and 130 females. The median age at diagnosis was 5 years (range: 1 month to 70 years), while the mean age was 11.3 years. The most common diagnosis was humoral immunodeficiency, observed in 120 individuals (44.6%), followed by complement deficiencies in 83 individuals (30.8%). Combined immunodeficiencies with syndromic features were found in 35 patients (13%), and phagocytic cell defects were identified in 12 patients (4.5%). The predominant clinical manifestations included severe recurrent infections and autoimmune cytopenias, while atopic and autoinflammatory symptoms were reported less frequently. Conclusions: These findings contribute to a better understanding of the registry-based distribution and clinical spectrum of IEIs in Kazakhstan and underscore the importance of early diagnosis and targeted care for affected individuals. Full article
(This article belongs to the Special Issue Progress in Diagnosis and Treatment of Primary Immunodeficiencies)
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11 pages, 286 KiB  
Article
Beyond the Malnutrition Screening Tool: Assessing Hand Grip Strength and Gastrointestinal Symptoms for Malnutrition Prediction in Outpatients with Chronic Kidney Disease Not on Kidney Replacement Therapy
by Maya Young, Jessica Dawson, Ivor J. Katz, Kylie Turner and Maria Chan
Nutrients 2025, 17(15), 2471; https://doi.org/10.3390/nu17152471 - 29 Jul 2025
Viewed by 211
Abstract
Background: The Malnutrition Screening Tool (MST) is commonly used to identify malnutrition risk; however it has demonstrated poor sensitivity to detect malnutrition in inpatients with chronic kidney disease (CKD) and kidney replacement therapy (KRT) populations. Gastrointestinal symptoms, such as poor appetite, may [...] Read more.
Background: The Malnutrition Screening Tool (MST) is commonly used to identify malnutrition risk; however it has demonstrated poor sensitivity to detect malnutrition in inpatients with chronic kidney disease (CKD) and kidney replacement therapy (KRT) populations. Gastrointestinal symptoms, such as poor appetite, may better detect malnutrition. The accuracy of MST or other nutrition-related parameters to detect malnutrition in ambulatory patients with CKD stages 4–5 without KRT has not been evaluated. Methods: A single site retrospective audit of outpatient records from May 2020 to March 2025 was conducted. Patients with eGFR < 25 mL/min/1.73 m2 without KRT who had both MST and a 7-point Subjective Global Assessment (SGA) within 7 days were included. Sensitivity, specificity, and ROC-AUC analyses compared nutritional parameters against SGA-defined malnutrition. Nutritional parameters tested included MST, hand grip strength, upper gastrointestinal symptom burden, poor appetite and a combination of some of these parameters. Results: Among 231 patients (68.8% male, median age 69 years, median eGFR 15), 29.9% were at risk of malnutrition (MST ≥ 2) and 33.8% malnourished (SGA ≤ 5). All potential screening tools had AUC ranging from 0.604 to 0.710, implying a poor-to-moderate discriminator ability to detect malnutrition. Combining HGS ≤ 29.5 kg or MST ≥2 demonstrated high sensitivity (95.5%) and negative predictive value (93.3%), but low specificity (33.3%) for detecting malnutrition, indicating this approach is effective for ruling out malnutrition but may over-identify at-risk individuals. Conclusions: MST and other tested tools showed limited overall accuracy to identify malnutrition. Using combined nutritional markers of HGS or MST score was the most sensitive tool for detecting malnutrition in this advanced CKD without KRT population. Full article
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16 pages, 694 KiB  
Review
Modulating Benign Prostatic Hyperplasia Through Physical Activity—The Emerging Role of Myokines: A Narrative Review
by Saad Alshahrani
Medicina 2025, 61(8), 1362; https://doi.org/10.3390/medicina61081362 - 28 Jul 2025
Viewed by 342
Abstract
Benign prostatic hyperplasia (BPH) is a multifactorial condition that is highly prevalent and affects aging males. It frequently results in lower urinary tract symptoms (LUTS) and a reduced quality of life. While hormonal dysregulation and chronic inflammation have long been implicated in BPH [...] Read more.
Benign prostatic hyperplasia (BPH) is a multifactorial condition that is highly prevalent and affects aging males. It frequently results in lower urinary tract symptoms (LUTS) and a reduced quality of life. While hormonal dysregulation and chronic inflammation have long been implicated in BPH pathogenesis, recent evidence highlights the role of physical activity in modulating prostate health. In this narrative review, evidence from quantitative studies examining the effect of exercise on BPH risk and symptom severity was first synthesized. Collectively, these studies suggest that regular physical activity is associated with a lower incidence and reduced progression of BPH. The potential mechanisms through which exercise may exert protective effects on the prostate were then explored. These include modulation of sympathetic nervous system activity, alterations in hormonal profiles (e.g., testosterone and insulin), suppression of chronic inflammation and oxidative stress, and the promotion of autophagy within prostatic tissue. Central to these mechanisms is the role of myokines—signaling molecules secreted by skeletal muscle during exercise. Key myokines, such as irisin, interleukin-6 (IL-6), brain-derived neurotrophic factor (BDNF), and myostatin, are reviewed in the context of prostate health. These molecules regulate inflammatory pathways, metabolic processes, and tissue remodeling. For instance, exercise-induced reductions in myostatin are linked to improved insulin sensitivity and decreased fat accumulation, while elevated irisin and BDNF levels may exert anti-inflammatory and metabolic benefits relevant to BPH pathophysiology. Although direct causal evidence linking myokines to BPH is still emerging, their biological plausibility and observed systemic effects suggest a promising avenue for non-pharmacological intervention. Future research should focus on identifying the specific myokines involved, elucidating their molecular mechanisms within the prostate, and evaluating their therapeutic potential in clinical trials. Full article
(This article belongs to the Section Urology & Nephrology)
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13 pages, 413 KiB  
Article
A Retrospective Cohort Study of Leptospirosis in Crete, Greece
by Petros Ioannou, Maria Pendondgis, Eleni Kampanieri, Stergos Koukias, Maria Gorgomyti, Kyriaki Tryfinopoulou and Diamantis Kofteridis
Trop. Med. Infect. Dis. 2025, 10(8), 209; https://doi.org/10.3390/tropicalmed10080209 - 25 Jul 2025
Viewed by 430
Abstract
Introduction: Leptospirosis is an under-recognized zoonosis that affects both tropical and temperate regions. While it is often associated with exposure to contaminated water or infected animals, its presentation and epidemiology in Mediterranean countries remain incompletely understood. This retrospective cohort study investigates the clinical [...] Read more.
Introduction: Leptospirosis is an under-recognized zoonosis that affects both tropical and temperate regions. While it is often associated with exposure to contaminated water or infected animals, its presentation and epidemiology in Mediterranean countries remain incompletely understood. This retrospective cohort study investigates the clinical and epidemiological profile of leptospirosis in Crete, Greece, a region where data are scarce. Methods: All adult patients with laboratory-confirmed leptospirosis admitted to three major public hospitals in Crete, Greece, between January 2019 and December 2023 were included in the analysis. Diagnosis was made through serologic testing along with compatible clinical symptoms. Results: A total of 17 patients were included. Their median age was 48 years, with a predominance of males (70.6%). Notably, more than half of the patients had no documented exposure to classic risk factors such as rodents or standing water. Clinical presentations were varied but commonly included fever, fatigue, acute kidney injury, and jaundice. Of the patients who underwent imaging, most showed hepatomegaly. The median delay from symptom onset to diagnosis was 11 days, underscoring the diagnostic challenge in non-endemic areas. Ceftriaxone was the most frequently administered antibiotic (76.5%), often in combination with tetracyclines or quinolones. Despite treatment, three patients (17.6%) died, all presenting with severe manifestations such as ARDS, liver failure, or shock. A concerning increase in cases was noted in 2023. Conclusions: Leptospirosis can present with severe and potentially fatal outcomes even in previously healthy individuals and in regions not traditionally considered endemic. The relatively high mortality and disease frequency noted emphasize the importance of maintaining a high index of suspicion. Timely diagnosis and appropriate antimicrobial therapy are essential to improving patient outcomes. Additionally, the need for enhanced public health awareness, diagnostic capacity, and possibly environmental surveillance to control this neglected but impactful disease better, should be emphasized. Full article
(This article belongs to the Special Issue Leptospirosis and One Health)
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14 pages, 841 KiB  
Article
The Role of Cognitive Reserve in Coping with Subjective Cognitive Complaints: An Exploratory Study of People with Parkinson’s Disease (PwPD)
by Chiara Siri, Anna Carollo, Roberta Biundo, Maura Crepaldi, Luca Weis, Ioannis Ugo Isaias, Angelo Antonini, Maria Luisa Rusconi and Margherita Canesi
Brain Sci. 2025, 15(8), 795; https://doi.org/10.3390/brainsci15080795 - 25 Jul 2025
Viewed by 323
Abstract
Background/Objectives: Depression, anxiety and apathy are often associated with subjective cognitive complaints (SCCs) in people with Parkinson’s disease (PwPD) without cognitive impairment. Cognitive reserve (CR) enhances emotional resilience, allowing people to better cope with stress and emotional challenges, factors affecting quality of life. [...] Read more.
Background/Objectives: Depression, anxiety and apathy are often associated with subjective cognitive complaints (SCCs) in people with Parkinson’s disease (PwPD) without cognitive impairment. Cognitive reserve (CR) enhances emotional resilience, allowing people to better cope with stress and emotional challenges, factors affecting quality of life. We aimed to explore the relationship between CR and mood/anxiety in cognitively intact PwPD with and without SCCs. Methods: In this cross-sectional study we enrolled 133 PwPD and normal cognitive function (age 59.8 ± 6.7 years; disease duration 9.0 ± 5.5 years; male/female 84/49). We assessed cognitive reserve (CR scale), subjective cognitive complaints (with PD-CFRS), QoL (PDQ8), mood, anxiety and apathy (BDI-II; STAI, PAS, Apathy scales). We used a t-test to compare groups (with/without SCC; M/F); correlations and moderation analysis to evaluate the relation between CR and behavioral features and the interplay between CR, behavioral discomfort and QoL. Results: The group with SCCs had significantly (p < 0.05) higher scores in PDQ8, Apathy, STAI, PAS-C and BDI-II scales than those with no SCCs. Males with SCCs had higher scores in PDQ8, Apathy scale and BDI-II while females differed in PDQ8 and Apathy scale scores. In the SCC group, late-life CR was negatively correlated with PAS-C (avoidance behavior) and BDI-II; correlations were confirmed in the male group where CR also correlated with PDQ-8 and PAS persistent anxiety. Conclusions: PwPD and SCCs are more depressed and anxious compared to people without SCCs. Furthermore, we found a relationship between depressive symptoms, anxiety and CR: PwPD with SCCs may rely on cognitive reserve to better cope with the feeling of anxiety and depression, especially in male gender. Full article
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