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Comprehensive Insights into Sarcopenia in Dialysis Patients: Mechanisms, Assessment, and Therapeutic Approaches
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The Role of Artificial Intelligence in Obesity Risk Prediction and Management: Approaches, Insights, and Recommendations
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Prognostic Differences Between Early-Onset and Late-Onset Colorectal Cancer
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Hypertension and Atrial Fibrillation: Bridging the Gap Between Mechanisms, Risk, and Therapy
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Next-Generation Cognitive-Behavioral Therapy for Depression: Integrating Digital Tools, Teletherapy, and Personalization for Enhanced Mental Health Outcomes
Journal Description
Medicina
Medicina
is an international, peer-reviewed, open access journal that covers all problems related to medicine. The journal is owned by the Lithuanian University of Health Sciences (LUHS) and is published monthly online by MDPI. Partner organizations are the Lithuanian Medical Association, Vilnius University, Rīga Stradiņš University, the University of Latvia, and the University of Tartu.
- Open Access— free for readers, with article processing charges (APC) paid by authors or their institutions.
- High Visibility: indexed within Scopus, SCIE (Web of Science), PubMed, MEDLINE, PMC, and other databases.
- Journal Rank: JCR - Q1 (Medicine, General and Internal) / CiteScore - Q1 (General Medicine)
- Rapid Publication: manuscripts are peer-reviewed and a first decision is provided to authors approximately 17.1 days after submission; acceptance to publication is undertaken in 2.5 days (median values for papers published in this journal in the second half of 2024).
- Recognition of Reviewers: reviewers who provide timely, thorough peer-review reports receive vouchers entitling them to a discount on the APC of their next publication in any MDPI journal, in appreciation of the work done.
Impact Factor:
2.4 (2023);
5-Year Impact Factor:
2.7 (2023)
Latest Articles
Prevalence of Genetic Variants Associated with Atrial Fibrillation Risk in the Asymptomatic Young Adult Population
Medicina 2025, 61(5), 900; https://doi.org/10.3390/medicina61050900 (registering DOI) - 15 May 2025
Abstract
Background and Objectives: Atrial fibrillation (AF) is the most common cardiac arrhythmia globally, leading to a high risk of stroke and heart failure. Genetic factors are known to play an essential role in AF risk. However, studies on genetic predisposition in asymptomatic
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Background and Objectives: Atrial fibrillation (AF) is the most common cardiac arrhythmia globally, leading to a high risk of stroke and heart failure. Genetic factors are known to play an essential role in AF risk. However, studies on genetic predisposition in asymptomatic young populations remain limited. This study aimed to investigate the prevalence of genetic variants in the PITX2 (rs2200733, rs10033464, and rs13143308), TBX5 (rs883079), PRRX1 (rs3903239), ZFHX3 (rs2106261), and HAND2 (rs7698692) polymorphisms and to assess their correlation with susceptibility to AF in a young adult population in India. Materials and Methods: This cross-sectional study included 250 subjects aged 18–29. Detailed lifestyle and family histories were collected for each participant. Genetic variation was determined using a specific TaqMan SNP genotyping assay. Hardy–Weinberg equilibrium (HWE) analysis and chi-square tests were employed to assess genotype frequencies, and statistical associations with lifestyle factors (body mass index, alcohol consumption, and smoking) were evaluated using t-tests and descriptive statistics. Results: Minor allele frequencies were varied across the study population, with notable frequencies in rs2200733 T (16%), rs10033464 T (27%), rs13143308 T (32%), rs883079 T (46%), rs3903239 G (25%), rs2106261 T (26%), and rs7698692 G (14%). HWE analysis confirmed that all SNPs were in equilibrium (p > 0.05). Approximately 15% of individuals carried six or more risk alleles, indicating a significant genetic predisposition to AF despite the absence of clinical symptoms. Conclusions: This study provides new insights into the genetic predisposition to AF among young adults in India. The high prevalence of risk alleles in asymptomatic young adults highlights the necessity of early genetic screening for AF risk and the role of genetic counseling in preventing cardiac complications.
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(This article belongs to the Section Genetics and Molecular Medicine)
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Open AccessReview
Mpox Infection and Endocrine Health: Bridging the Knowledge Gap
by
Christos Savvidis, Manfredi Rizzo and Ioannis Ilias
Medicina 2025, 61(5), 899; https://doi.org/10.3390/medicina61050899 - 15 May 2025
Abstract
Mpox (MPX), caused by the Monkeypox virus (MPXV), is a zoonotic orthopoxvirus infection with increasing global relevance due to sustained human-to-human transmission. While primarily known for cutaneous and systemic involvement, emerging evidence suggests that MPX may also disrupt endocrine function. This narrative review
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Mpox (MPX), caused by the Monkeypox virus (MPXV), is a zoonotic orthopoxvirus infection with increasing global relevance due to sustained human-to-human transmission. While primarily known for cutaneous and systemic involvement, emerging evidence suggests that MPX may also disrupt endocrine function. This narrative review aims to synthesize current clinical, experimental, and epidemiological findings on MPX-related endocrine complications. We explore the potential impact of MPXV on the thyroid, adrenal glands, and gonads, and discuss the underlying mechanisms, clinical manifestations, and implications for patient management. MPX has been implicated in viral-induced subacute thyroiditis, with cases exhibiting thyrotoxicosis followed by hypothyroidism, likely mediated by direct viral infiltration or immune dysregulation. Additionally, MPX may contribute to adrenal insufficiency through viral invasion, immune-mediated destruction, or hypothalamic–pituitary–adrenal (HPA) axis dysfunction, exacerbating metabolic and inflammatory complications. MPXV’s persistence in testicular tissue raises concerns about reproductive health, with potential implications for fertility, hormone production, and viral transmission. The virus may also modulate host steroid pathways through interactions with glucocorticoid, androgen, and estrogen receptors, influencing immune responses and disease severity. Given these findings, clinicians should maintain vigilance for endocrine dysfunction in MPX patients, particularly in immunocompromised individuals. The role of steroid therapy in MPX remains complex, requiring careful balancing of its anti-inflammatory benefits against potential risks of viral persistence and immune suppression. Further research is essential to clarify MPX’s endocrine impact and optimize management strategies.
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(This article belongs to the Section Endocrinology)
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Open AccessArticle
Elevated Leukocyte Glucose Index (LGI) Is Associated with Diabetic Ketoacidosis (DKA) Severity and Presence of Microvascular Complications
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Mircea Cătălin Coșarcă, Raluca Maria Tilinca, Nicolae Alexandru Lazăr, Suzana Vasilica Șincaru, Bogdan Corneliu Bandici, Cosmin Carașca, Ráduly Gergő, Adrian Vasile Mureșan and Mariana Cornelia Tilinca
Medicina 2025, 61(5), 898; https://doi.org/10.3390/medicina61050898 - 15 May 2025
Abstract
Background and Objectives: Diabetic ketoacidosis (DKA) represents the most prevalent hyperglycemic emergency and poses a significant life-threatening metabolic risk for individuals with diabetes. The present study examines the predictive role of the leukocyte glucose index (LGI) values at baseline in diagnosing the
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Background and Objectives: Diabetic ketoacidosis (DKA) represents the most prevalent hyperglycemic emergency and poses a significant life-threatening metabolic risk for individuals with diabetes. The present study examines the predictive role of the leukocyte glucose index (LGI) values at baseline in diagnosing the severity of DKA and their correlation with the presence of diabetes-related microvascular complications. Materials and Methods: A retrospective observational study was conducted involving a total of 94 patients who had previously confirmed diagnoses of either Type I or Type II diabetes mellitus and presented with ketoacidosis upon emergency admission to the Department of Diabetology, Nutrition, and Metabolic Disease. Demographic information, values of arterial systolic and diastolic pressure, known duration and type of diabetes, severity of ketoacidosis, routine laboratory results, and blood gas analyses were retrieved from the hospital’s electronic database. Results: Higher diastolic blood pressure (DBP) values were observed in both mild (p = 0.021) and severe DKA (p = 0.035) compared to moderate DKA. When examining laboratory data, elevated white blood cell (WBC) counts were observed in severe DKA when compared to mild DKA (p = 0.009), as well as increased neutrophil counts in both moderate (p = 0.038) and severe (p = 0.011) DKA relative to mild DKA. Furthermore, patients with severe DKA exhibited lower values of venous blood pH, partial pressure of carbon dioxide (pvCO2), base excess (BE), and bicarbonate than the other groups (all p < 0.05), alongside higher levels of lactate, anion gap, and LGI (all p < 0.05). Regarding the parameters of arterial blood gas, we identified a negative correlation between LGI values and venous blood pH (r = −0.383, p < 0.001), serum bicarbonate (r = −0.352, p < 0.001), pCO2 (r = −0.271, p = 0.009), and BE (r = −0.330, p < 0.001). At univariate analysis, elevated LGI values are associated with the severity of DKA (OR: 1.87, p = 0.016) and diabetes-related microvascular complications (OR: 2.16, p = 0.010). Conclusions: The positive correlation between LGI and DKA severity and between LGI and diabetes microvascular complications highlights the potential utility of LGI as a predictive marker, facilitating early risk stratification and clinical decision-making.
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(This article belongs to the Section Endocrinology)
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Open AccessArticle
Breathless Strength: Ultrasonographic Insights into Expiratory Muscle Dysfunction in Spinal Cord Injury
by
Burak Kutuk, Kadriye Ones and Yunus Emre Dogan
Medicina 2025, 61(5), 897; https://doi.org/10.3390/medicina61050897 - 15 May 2025
Abstract
Background and Objectives: This study aimed to evaluate the predictive value of ultrasonographic abdominal muscle thickness and thickening ratios for expiratory muscle strength in SCI patients. Materials and Methods: A case-controlled, cross-sectional study was conducted with 36 SCI patients and 30 age- and
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Background and Objectives: This study aimed to evaluate the predictive value of ultrasonographic abdominal muscle thickness and thickening ratios for expiratory muscle strength in SCI patients. Materials and Methods: A case-controlled, cross-sectional study was conducted with 36 SCI patients and 30 age- and sex-matched healthy controls. Ultrasonographic measurements of the rectus abdominis (RA), external oblique (EO), internal oblique (IO), and transversus abdominis (TrA) were performed at rest and during forced expiration. Maximal inspiratory pressure (MIP) and maximal expiratory pressure (MEP) were measured to assess respiratory muscle strength. Correlation and regression analyses were performed to determine the relationship between ultrasonography (USG) parameters and expiratory muscle function. Results: SCI patients exhibited significantly lower MIP (76.27 ± 29 cmH2O vs. 91.63 ± 17.3 cmH2O, p = 0.007) and MEP (64.52 ± 21.55 cmH2O vs. 119.1 ± 26.48 cmH2O, p < 0.001) compared to healthy individuals. Ultrasonographic measurements revealed a significant reduction in forced thickness and thickening ratios of EO, IO, and TrA muscles in SCI patients (p < 0.001). MEP was positively correlated with EO forced thickness (r = 0.333, p = 0.047), IO forced thickness (r = 0.501, p = 0.002), and TrA forced thickness (r = 0.530, p = 0.001). Multiple linear regression analysis identified TrA forced thickness as the strongest predictor of MEP (β = 0.49, p = 0.001). Conclusions: Ultrasonographic measurements of abdominal muscle thickness and thickening ratios provide valuable insights into expiratory muscle dysfunction in SCI patients. TrA forced thickness demonstrated the strongest association with MEP, suggesting its potential as a novel, non-invasive biomarker for expiratory muscle weakness. These results support the use of USG as a practical clinical tool for guiding respiratory assessment and rehabilitation strategies in patients with spinal cord injury.
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(This article belongs to the Section Neurology)
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Optimal Localization of the Foramen Ovale for Transseptal Puncture Using the Vertebral Body Units
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Dong Hoon Kang, Sung Eun Park, Jong Woo Kim, Seong Ho Moon, Ho Jeong Cha, Jong Hwa Ahn and Joung Hun Byun
Medicina 2025, 61(5), 896; https://doi.org/10.3390/medicina61050896 - 15 May 2025
Abstract
Background and Objectives: Although transesophageal or intracardiac echocardiography and radiofrequency needles are employed to guide transseptal puncture, their routine utilization is associated with substantial expense. No reports have analyzed the use of the foramen ovale position to effectively guide transseptal punctures on
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Background and Objectives: Although transesophageal or intracardiac echocardiography and radiofrequency needles are employed to guide transseptal puncture, their routine utilization is associated with substantial expense. No reports have analyzed the use of the foramen ovale position to effectively guide transseptal punctures on chest X-rays or computed tomography scout views, which are more cost-effective approaches to safely and effectively guide the procedure. We aimed to find the foramen ovale position on chest computed tomography scout views to effectively guide percutaneous transseptal punctures. Materials and Methods: The study population included 31 patients treated with extracorporeal membrane oxygenation (ECMO) for cardiogenic shock, 32 patients diagnosed with atrial fibrillation (AF) who underwent MDCT, and 197 patients who underwent MDCT for non-cardiac conditions. Vertebral body units, defined as the distance between two adjacent vertebral bodies (the sixth and seventh thoracic spines) inclusive of the intervertebral disk space, were used to express the distance from the carina to the foramen ovale on computed tomography scout views. Results: The mean vertebral body units, distance from the carina to the foramen ovale (carina–foramen ovale), and distance from the carina to the foramen ovale on chest computed tomography scout views (carina–foramen ovale vertebral body units−1) were 2.3 ± 0.2 cm, 6.9 ± 0.9 cm, and 3.0 ± 0.3, respectively. Multivariate analysis showed significant correlations between the carina–foramen ovale vertebral body units−1 and sex (β = 0.080; p = 0.028), body mass index (β = −0.020; p < 0.001), age (β = 0; p = 0.013), and the application of extracorporeal membrane oxygenation or the presence of atrial fibrillation (β = 0.130; p = 0.004). Conclusions: Although a three-dimensional approach was not employed, the foramen ovale position may serve as a radiologic guide in various clinical settings where transseptal punctures are required. This technique may be an effective aid in transseptal puncture procedures.
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(This article belongs to the Section Cardiology)
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Open AccessSystematic Review
Beyond Diagnosis: Exploring Residual Autonomy in Dementia Through a Systematic Review
by
Anna Anselmo, Francesco Corallo, Maria Pagano, Davide Cardile, Angela Marra, Giuseppa Maresca, Rosaria De Luca, Antonella Alagna, Angelo Quartarone, Rocco Salvatore Calabrò and Irene Cappadona
Medicina 2025, 61(5), 895; https://doi.org/10.3390/medicina61050895 - 14 May 2025
Abstract
Background and Objectives: The connection between cognitive decline and autonomy represents a complex and multifactorial area of research. Cognitive decline manifests as a progressive impairment of higher mental functions and is typical of neurodegenerative conditions such as dementia. Autonomy, on the other
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Background and Objectives: The connection between cognitive decline and autonomy represents a complex and multifactorial area of research. Cognitive decline manifests as a progressive impairment of higher mental functions and is typical of neurodegenerative conditions such as dementia. Autonomy, on the other hand, is defined as an individual’s ability to independently manage activities of daily living and make informed decisions. The objective of this study was to investigate whether certain daily living skills can persist despite the advancement of dementia, and what factors contribute to their preservation in maintaining autonomy. Materials and Methods: A literature review was conducted using the databases PubMed, Web of Science, Scopus, Cochrane Library, Embase, and PsycInfo. Out of an initial pool of 12,113 studies, only 19 met the inclusion criteria and were selected for analysis. Results: The findings indicate that, in non-institutionalized settings, some daily living abilities may remain preserved despite cognitive deterioration. In contrast, within institutionalized environments, a significant correlation emerged between cognitive decline and the progressive loss of personal autonomy. Conclusions: This study highlights the importance of assessing residual abilities in individuals with dementia. Recognizing and supporting these remaining skills can play a crucial role in enhancing quality of life, delaying institutionalization, and promoting autonomy even in the presence of advanced cognitive decline.
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(This article belongs to the Section Neurology)
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Platelet-Rich Plasma Provides Superior Clinical Outcomes Without Radiologic Differences in Lateral Epicondylitis: Randomized Controlled Trial
by
Taha Kizilkurt, Ahmet Serhat Aydin, Taha Furkan Yagci, Ali Ersen, Celal Caner Ercan and Artür Salmaslioglu
Medicina 2025, 61(5), 894; https://doi.org/10.3390/medicina61050894 - 14 May 2025
Abstract
Background and Objectives: Lateral epicondylitis, commonly known as tennis elbow, is a prevalent condition characterized by pain and tenderness over the lateral epicondyle. Various treatment options, including corticosteroids, platelet-rich plasma (PRP), and saline injections, are utilized, yet their comparative efficacy remains unclear. Hypothesis:
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Background and Objectives: Lateral epicondylitis, commonly known as tennis elbow, is a prevalent condition characterized by pain and tenderness over the lateral epicondyle. Various treatment options, including corticosteroids, platelet-rich plasma (PRP), and saline injections, are utilized, yet their comparative efficacy remains unclear. Hypothesis: This study hypothesizes that PRP injections result in superior functional and clinical outcomes compared to corticosteroid and saline treatments, as assessed by clinical scoring systems and radiological findings. Materials and Methods: The study enrolled patients aged 18 years and older with pain and tenderness over the lateral epicondyle persisting for at least three months and no prior treatment. Patients with comorbidities affecting the upper extremity were excluded. Fifty-five elbows from 50 patients were randomized into three groups (glucocorticoid, PRP, and saline). Functional outcomes were assessed using the Visual Analog Scale (VAS), Patient-Rated Tennis Elbow Evaluation (PRTEE), and Disabilities of the Arm, Shoulder, and Hand (DASH) questionnaire. Radiological evaluations included vascularity and superb microvascular imaging (SMI) indices via ultrasonography before injection and three months post-injection. Results: Fourteen patients were lost to follow-up, leaving 36 patients (36 elbows, 16 males and 20 females; mean age 42.4 ± 6.15 years) for analysis. The glucocorticoid group included 13 elbows, PRP group 14 elbows, and saline group 14 elbows. Baseline functional and radiological scores were similar across groups. At three months, PRP and glucocorticoid groups showed no significant differences in VAS scores (p = 0.7), but PRP outperformed both of the other groups in DASH and PRTEE scores, with the saline group performing the worst (p < 0.001). PRP consistently achieved the best outcomes at both three and six months. Radiological assessments revealed no significant group differences in vascularity or SMI indices (p = 0.3 and p = 0.2, respectively). Conclusions: PRP treatment demonstrated superior functional outcomes in early and mid-term evaluations compared to glucocorticoid and saline. However, ultrasonographic measures of vascularity and SMI did not correlate with functional outcomes. Clinical Relevance: PRP offers a promising treatment option for lateral epicondylitis, with superior functional improvements over other commonly used injections. Radiological assessments of vascularity and SMI may not reliably predict clinical outcomes.
Full article
(This article belongs to the Topic Orthopaedic Diseases and Innovative Intervention Strategies, 2nd Volume)
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Open AccessArticle
Impacts of an Oral Appliance on Snoring in Adults with Varying Degrees of Snoring Severity: A Preliminary Study
by
Yu-Hsiang Cheng, Jui-Kun Chiang, Yen-Chang Lin, Hsueh-Hsin Kao and Yee-Hsin Kao
Medicina 2025, 61(5), 893; https://doi.org/10.3390/medicina61050893 - 14 May 2025
Abstract
Background and Objectives: Oral appliances (OAs) are commonly used to manage sleep-disordered breathing conditions, including primary snoring, and offer an alternative treatment for individuals with obstructive sleep apnea (OSA) who cannot tolerate continuous positive airway pressure (CPAP) therapy. Our study analyzed the
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Background and Objectives: Oral appliances (OAs) are commonly used to manage sleep-disordered breathing conditions, including primary snoring, and offer an alternative treatment for individuals with obstructive sleep apnea (OSA) who cannot tolerate continuous positive airway pressure (CPAP) therapy. Our study analyzed the possible factors associated with higher snoring rates compared with those associated with lower snoring rates. Materials and Methods: A customized dental brace with a tongue compressor was the essential part of the Lin OA (LOA). The compressor is available in various lengths, ranging from 0.5 to 3.0 cm across different versions. The participants wore the LOA throughout the night while sleeping. Their snoring rates were recorded using the SnoreClock app on their cell phones. Results: The analysis included 36 participants, comprising 30 males and 6 females. The participants had a mean age of 44.91 ± 9.96 years, a mean BMI of 26.18 ± 3.50 kg/m2, and an average recording duration of 398.27 ± 77.56 min per session. In total, 4052 sleep recordings were analyzed. The number of files for females was less than that for males (563 vs. 3489). In this study, individuals belonging to the highest one-third based on the baseline snoring rate (H group) experienced a significant reduction in snoring, approximately 84.8%, when using the LOA-3 cm device equipped with a 3 cm tongue compressor. The individuals who belonged to the lower two-thirds based on the baseline snoring rate were classified as the L group. Among male participants, snoring decreased by approximately 66.4%. Similarly, among female participants in the L group, snoring decreased by approximately 69.3% when using the LOA-3 cm. Conclusions: In this study, we observed a significant reduction in snoring for the two groups of participants wearing the LOA-3 cm, with the rate decrements ranging from 66.4% to 84.8%. This reduction was more pronounced in the H group than in the male participants in the L group. Further studies are needed to explore the reasons for these findings.
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(This article belongs to the Section Dentistry and Oral Health)
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Open AccessArticle
Exploring the Potential of a P2X3 Receptor Antagonist: Gefapixant in the Management of Persistent Cough Associated with Interstitial Lung Disease
by
Tomoyuki Takahashi, Atsushi Saito, Takafumi Yorozuya, Hirotaka Nishikiori, Koji Kuronuma and Hirofumi Chiba
Medicina 2025, 61(5), 892; https://doi.org/10.3390/medicina61050892 - 14 May 2025
Abstract
Background: Interstitial lung disease (ILD) is characterized by pulmonary inflammation and fibrosis associated with persistent and refractory cough that significantly hinders quality of life. Conventional treatments for ILD-associated cough have shown limited efficacy, necessitating alternative therapeutic approaches. Gefapixant, a P2X3 receptor antagonist, can
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Background: Interstitial lung disease (ILD) is characterized by pulmonary inflammation and fibrosis associated with persistent and refractory cough that significantly hinders quality of life. Conventional treatments for ILD-associated cough have shown limited efficacy, necessitating alternative therapeutic approaches. Gefapixant, a P2X3 receptor antagonist, can potentially alleviate chronic cough by inhibiting the ATP-mediated activation of sensory C-fibers, but its efficacy in ILD-associated cough remains unclear. This study observed the effects of gefapixant on ILD-associated refractory chronic cough. Methods: This prospective study enrolled patients with ILD-associated refractory chronic cough who received gefapixant at Sapporo Medical University Hospital between July 2022 and November 2023. Cough frequency, Leicester Cough Questionnaire (LCQ) score, cough severity visual analog scale (Cough VAS), and taste VAS were evaluated at baseline and at 2, 4, and 8 weeks after gefapixant administration. Results: Six patients completed the study. Their ILD subtypes included idiopathic pulmonary fibrosis (IPF), nonspecific interstitial pneumonia (NSIP), and connective tissue disease-associated ILDs (CTD-ILDs). After 8 weeks, the cough frequency decreased from 88.5 to 44.3 episodes per 30 min, LCQ scores increased from 8.3 to 13.6, and cough VAS scores decreased from 75.8 to 40.2. However, statistical significance was not reached due to high interindividual variability, with gefapixant being effective in some and ineffective in others. The most common adverse event was taste disorder, leading to discontinuation in one patient, but symptoms tended to lessen over the course of treatment. Conclusions: Gefapixant appears to be effective in reducing refractory cough related to ILD, although these results were not statistically significant because its effectivity widely varied across individuals. Further investigation is needed to identify patient subgroups with the greatest potential for treatment responsiveness.
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(This article belongs to the Special Issue Diagnosis and Treatment of Interstitial Lung Disease)
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Sex Differences in the In-Hospital Mortality of Patients with Acute Myocardial Infarction: A Cross-Sectional Study in 36 Hospitals Across Germany
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Karel Kostev, Nimran Kaur, Sabine Kluge, Marcel Konrad, Jamschid Sedighi and Mark Lüdde
Medicina 2025, 61(5), 891; https://doi.org/10.3390/medicina61050891 - 14 May 2025
Abstract
Background and Objectives: Acute myocardial infarction (AMI) is one of the leading causes of mortality worldwide and caused ~1.8 million deaths in the European Union from 2012 to 2020. This study aimed to analyze and quantify sex-based disparities, identifying both clinical and systemic
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Background and Objectives: Acute myocardial infarction (AMI) is one of the leading causes of mortality worldwide and caused ~1.8 million deaths in the European Union from 2012 to 2020. This study aimed to analyze and quantify sex-based disparities, identifying both clinical and systemic contributors to in-hospital mortality differences between male and female patients. Materials and Methods: This multicenter cross-sectional study from 36 hospitals across Germany included all hospitalized patients aged ≥18 years with admissions between January 2019 and December 2023 and a primary diagnosis of AMI. The primary outcome of the study was the prevalence of in-hospital mortality as a function of sex. Multivariable logistic regression analyses were conducted to assess the associations between female sex as compared with male sex and in-hospital mortality. Results: The present study included 9142 male and 4128 female patients with AMI. Women were significantly older than men (74.4 years versus 67.7 years). The proportion of non-ST elevation (NSTE-MI)-MI was higher in women than in men (70.7% versus 66.7%). Overall, in-hospital mortality was higher in women than in men (8.5% versus 7.1%). In a multivariable regression model, female sex was not significantly associated with in-hospital mortality (OR: 0.89; 95% CI: 0.77–1.04) irrespective of the MI type. Conclusions: There were no significant sex-based differences observed in the in-hospital mortality among patients suffering from AMI in Germany.
Full article
(This article belongs to the Special Issue Advances in Acute Myocardial Infarction)
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Open AccessSystematic Review
Lower Urinary Tract Symptoms in Uterine Myoma: A Systematic Review and Meta-Analysis
by
Lek-Hong Tan and Li-Hsien Tsai
Medicina 2025, 61(5), 890; https://doi.org/10.3390/medicina61050890 - 14 May 2025
Abstract
Background and Objectives: Lower urinary tract symptoms (LUTSs) are prevalent among patients with uterine myoma (UM); however, these health issues have not been systematically evaluated. To address this research gap, this systematic review and meta-analysis synthesizes existing findings on the prevalence estimates
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Background and Objectives: Lower urinary tract symptoms (LUTSs) are prevalent among patients with uterine myoma (UM); however, these health issues have not been systematically evaluated. To address this research gap, this systematic review and meta-analysis synthesizes existing findings on the prevalence estimates and odds ratios for LUTSs in patients with UM. Materials and Methods: A systematic literature search using PubMed and Embase was conducted for articles published between 1 January 2000 and 24 September 2023. The search and review processes followed the PRISMA and MOOSE guidelines. This study was registered in PROSPERO (CRD42023474156). Data on the prevalence and odds ratios of LUTSs—including storage symptoms (frequency, urgency, nocturia), voiding symptoms, and urinary incontinence (UI) subtypes such as stress incontinence (SUI), urgency urinary incontinence (UUI), and mixed urinary incontinence (MUI)—were extracted. Pooled prevalence estimates and odds ratios were calculated using random-effects meta-analysis. Subgroup analyses and univariate meta-regression were conducted to examine associations with age, BMI, parity, WHO region, and risk of bias. The impact of UM size was assessed using standardized mean differences. Results: Of the 572 articles screened, 20 met the inclusion criteria. The overall pooled prevalence of LUTSs in UM patients was 49% (95% CI, 26–72%), with substantial heterogeneity across studies (I2 = 99.8%). The pooled prevalence for urinary frequency, urgency, nocturia, voiding dysfunction, and overall UI, SUI, UUI, and MUI ranged from 15% to 54%. SUI and UUI were significantly associated with UM (OR = 2.0, 95% CI: 1.2–3.3; OR = 1.5, 95% CI: 1.1–2.0, respectively). Hysterectomy was not associated with an improvement in overactive bladder (OAB) symptoms (OR = 1.9, 95% CI: 0.6–5.7). A larger UM size was not linked to worsening LUTS. Fourteen studies (70%) had some concerns about the risk of bias, while six studies (30%) had a low risk of bias. Egger’s test showed no significant publication bias (p = 0.19). Conclusions: Approximately half of patients with UM experience LUTSs or UI. The findings emphasize the need to consider urinary symptoms in UM management. Further research is warranted to reduce heterogeneity and explore treatment-specific outcomes.
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(This article belongs to the Section Urology & Nephrology)
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Open AccessArticle
Prospective Evaluation of Clinical and Laboratory Profiles of Febrile and Afebrile Immunosuppressed Patients Presenting to the Emergency Department
by
Tuğrul Topal, Esra Pamukçu, Muhammet Gökhan Turtay, Gülşen Yalçın, Harun Kürşat Şahingil and Mehmet Sezer
Medicina 2025, 61(5), 889; https://doi.org/10.3390/medicina61050889 - 14 May 2025
Abstract
Background and Objectives: Immunosuppressed patients are at higher risk of delayed diagnosis and atypical presentations in the emergency department (ED), requiring prompt management. This study compares febrile (≥37.5 °C) and afebrile (<37.5 °C) immunosuppressed patients admitted to the ED regarding clinical and
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Background and Objectives: Immunosuppressed patients are at higher risk of delayed diagnosis and atypical presentations in the emergency department (ED), requiring prompt management. This study compares febrile (≥37.5 °C) and afebrile (<37.5 °C) immunosuppressed patients admitted to the ED regarding clinical and laboratory parameters, including blood and urine tests, vital signs, final diagnoses, outcomes, and mortality. Materials and Methods: Eighty immunosuppressed patients aged 18–82 were prospectively evaluated from May 2019 to May 2020. Data on blood and urine tests, final diagnoses, outcomes, and mortality were recorded using a standardized form. Results: Among the 80 patients, 44 (55%) were female and 36 (45%) were male, with a mean age of 58.5 ± 14.72 years. The febrile patients showed higher admission levels of lactate dehydrogenase (LDH), interleukin-6 (IL-6), procalcitonin (PCT), and longer hospital stays than the afebrile patients. Mortality correlated with low albumin, oxygen saturation, platelet count, and total protein levels and elevated PCT and lipase levels. ICU admissions were linked to low albumin, total protein, and systolic blood pressure levels and elevated LDH, blood urea nitrogen, neutrophil count, and PCT levels. The fever status (febrile versus afebrile) had no significant relationship with the immunosuppression type, complaints, diagnoses, outcomes, or mortality. Final diagnoses varied by immunosuppression type: cholangitis in liver transplant recipients, respiratory infections in cancer patients, and urinary tract infections in kidney transplant recipients. Conclusions: Immunosuppressed patients can present with severe conditions, even without fever. Based on our findings, our study emphasizes that measuring PCT in immunosuppressed patients presenting to the emergency department with various complaints but without fever may help reduce the risk of delayed diagnosis.
Full article
(This article belongs to the Special Issue Advances and Challenges in Prehospital Emergency Care)
Open AccessArticle
Meta-Analysis of 16S rRNA Sequencing Reveals Altered Fecal but Not Vaginal Microbial Composition and Function in Women with Endometriosis
by
Astrid Torraco, Sara Di Nicolantonio, Martina Cardisciani, Eleonora Ortu, Davide Pietropaoli, Serena Altamura and Rita Del Pinto
Medicina 2025, 61(5), 888; https://doi.org/10.3390/medicina61050888 - 14 May 2025
Abstract
Background and Objectives: Dysbiosis of the oral–gut axis is related to several extraintestinal inflammatory diseases, including endometriosis. This study aims to assess the microbial landscape and pathogenic potential of distinct biological niches during endometriosis. Materials and Methods: A microbiome meta-analysis was
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Background and Objectives: Dysbiosis of the oral–gut axis is related to several extraintestinal inflammatory diseases, including endometriosis. This study aims to assess the microbial landscape and pathogenic potential of distinct biological niches during endometriosis. Materials and Methods: A microbiome meta-analysis was conducted on 182 metagenomic sequences (79 of fecal and 103 of vaginal origin) from women with and without endometriosis. Fecal and vaginal microbial diversity, differential abundance, and functional analysis based on disease status were assessed. Random forest, gradient boosting, and generalized linear modeling were used to predict endometriosis based on differentially enriched bacteria. Results: Only intestinal microbes displayed distinctive taxonomic and functional characteristics in women with endometriosis compared to control women. Taxonomic differences were quantified using the microbial endometriosis index (MEI), which effectively distinguished between individuals with and without the disease. The observed functional enrichment pointed to proinflammatory pathways previously related to endometriosis development. Conclusions: Dysbiosis in the oral–gut microbial community appears to play a prevalent role in endometriosis. Our findings pave the ground for future studies exploring the potential mechanistic involvement of the oral–gut axis in disease pathogenesis.
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(This article belongs to the Section Obstetrics and Gynecology)
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Open AccessArticle
Prevalence of Sleep Apnea in Patients with Syncope of Unclear Cause: SINCOSAS Study
by
María-José Muñoz-Martínez, Alberto Fernández-Villar, Manuel Casal-Guisande, Enrique García-Campo, Dolores Corbacho-Abelaira, Ana Souto-Alonso and Bernardo Sopeña
Medicina 2025, 61(5), 887; https://doi.org/10.3390/medicina61050887 - 13 May 2025
Abstract
Background and Objectives: The association between syncope and sleep apnea (SA) has been scarcely investigated. Dysfunction of the autonomic nervous system (ANS) may represent a shared pathophysiological mechanism. This study aimed to determine the prevalence of SA in patients with syncope of unclear
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Background and Objectives: The association between syncope and sleep apnea (SA) has been scarcely investigated. Dysfunction of the autonomic nervous system (ANS) may represent a shared pathophysiological mechanism. This study aimed to determine the prevalence of SA in patients with syncope of unclear cause (SUC), identify potential associated factors, and evaluate nocturnal heart rate variability (HRV) as a marker of ANS function. Materials and Methods: A prospective cohort study was conducted in adult patients diagnosed with SUC. Nocturnal cardiorespiratory polygraphy was performed to detect the presence of SA. A range of variables potentially associated with SA was collected. Both SA diagnosis and HRV parameters were assessed using the Embletta® MPR polygraph system. Results: A total of 156 patients were enrolled (57% male), with a mean age of 64 years and a mean body mass index of 27.5 kg/m2 (range: 24.8–32.2). Hypertension was present in 46% of the cohort. The overall prevalence of SA was 78.2% (95% CI: 71.7–84.4%), with 28.7% classified as severe. Age (OR = 1.04; 95% CI: 1.01–1.07) and BMI (OR = 1.17; 95% CI: 1.06–1.28) were independent predictors of SA. Mean RR interval was significantly lower in patients with SA compared to those without (942 ms vs. 995 ms; p = 0.04). No significant differences in HRV parameters were observed between the two groups. Conclusions: This study found a high prevalence (nearly 78%) of SA among adult patients with SUC, particularly in individuals over 50 years of age and those who were overweight. However, this association could not be predicted based on clinical variables alone. No significant differences in nocturnal HRV were detected between patients with SUC with and without SA.
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(This article belongs to the Section Pulmonology)
Open AccessArticle
Occurrence and Impact of Intraoperative Anastomotic Leakage in Retzius-Sparing Robot-Assisted Radical Prostatectomy
by
Jian-Kai Chen, Yu-Jun Chang, Chi-Bo Lin, Yueh Pan and Pai-Fu Wang
Medicina 2025, 61(5), 886; https://doi.org/10.3390/medicina61050886 - 13 May 2025
Abstract
Background and Objectives: The limited literature on the significance and risk factors of intraoperative anastomotic leakage (IAL) following Retzius-sparing robot-assisted radical prostatectomy (Rs-RARP) highlights the need for further investigation. This study aimed to assess the incidence of IAL, identify its associated risk
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Background and Objectives: The limited literature on the significance and risk factors of intraoperative anastomotic leakage (IAL) following Retzius-sparing robot-assisted radical prostatectomy (Rs-RARP) highlights the need for further investigation. This study aimed to assess the incidence of IAL, identify its associated risk factors, and evaluate its clinical implications. Materials and Methods: Patients with prostate adenocarcinoma who underwent Rs-RARP performed by a single surgeon between February 2015 and August 2023 were included in this study. Positive IAL was defined as the presence of anastomotic leakage identified through a water injection test performed immediately after vesicourethral anastomosis (VUA). Postoperative urinary continence was defined as the use of no pads or only a safety pad. Patients were categorized into two groups: those with positive IAL and those without. Immediate repair was performed in cases of positive IAL, and cystography was conducted approximately 10–14 days postoperatively. Chi-square test, Fisher’s exact test, Mann–Whitney U test, as well as univariable and multivariable logistic regression analyses, were used to evaluate the risk factors associated with IAL. Additionally, we analyzed the continence rate and the time to achieve continence following surgery. Results: A total of 230 patients underwent Rs-RARP for prostate adenocarcinoma performed by a single surgeon at our center during the aforementioned period. A water injection test was performed in all patients immediately after the VUA. IAL was observed in 32 patients (14%) during the water injection test. Postoperative cystography revealed very mild contrast medium leakage in only two patients (0.9%), with no impact on clinical recovery. No major IAL cases were identified on postoperative cystography. Patients with positive IAL required a significantly longer time to achieve continence compared to those without IAL (2.13 vs. 0.46 months, p = 0.008). Univariable analysis showed that a locally advanced T stage (>T2), longer console time, and absence of nerve-sparing were significantly associated with positive IAL. In multivariable analysis, a longer console time and a locally advanced T stage remained significant predictors of IAL. Conclusions: IAL detected by the water injection test was associated with the development of postoperative urinary incontinence and delayed recovery of continence. A tumor stage greater than T2 and longer console time were significant predictors of IAL. Further prospective randomized studies with larger sample sizes are required to validate our findings.
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(This article belongs to the Section Urology & Nephrology)
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Open AccessArticle
Does MYO and ALA Supplementation Improve PCOS Outcomes?
by
Selma Firat, Koray Elter, Sinan Ateş and Mehmet Fisunoğlu
Medicina 2025, 61(5), 885; https://doi.org/10.3390/medicina61050885 - 13 May 2025
Abstract
Background and Objectives: This study aimed to evaluate the impact of myoinositol (MYO) and α-lipoic acid (ALA) supplementation on hormonal and metabolic markers in women diagnosed with polycystic ovary syndrome (PCOS). Materials and Methods: A retrospective case–control study was conducted with 58
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Background and Objectives: This study aimed to evaluate the impact of myoinositol (MYO) and α-lipoic acid (ALA) supplementation on hormonal and metabolic markers in women diagnosed with polycystic ovary syndrome (PCOS). Materials and Methods: A retrospective case–control study was conducted with 58 women aged between 18–40 years who met the Rotterdam criteria for PCOS. The case group (n = 29) received MYO (2000 mg/day) and ALA (400 mg/day) supplements, while the control group (n = 29) did not receive any treatment. Data on the subjects’ anthropometric measures, glycemic indices, sex hormones, and lipid profiles were collected. Results: The results demonstrated that, following three months of MYO + ALA supplementation, the case group exhibited steady body weight (p = 0.484) and BMI (p = 0.405), whereas the control group demonstrated a significant increase in both (p = 0.029; p = 0.026, respectively). A stratified analysis based on BMI, waist circumference, and waist-to-height ratio revealed that HbA1c (%) was significantly lower in the “normal” subgroup compared to the “risky” subgroup within the case group (p < 0.05). Although the mean HbA1c, insulin, and HOMA-IR values were comparable between the two groups, the LH/FSH ratio significantly increased in the control group (p = 0.010). No significant differences were observed in the lipid profiles between the two groups; however, LDL levels decreased significantly in the case group (p = 0.024). Across all classifications, the “normal” subgroup consistently exhibited lower HbA1c and TG/HDL ratios than the “risky” subgroup. Conclusions: Adding MYO + ALA supplementation to standard PCOS treatment may offer metabolic benefits, particularly in maintaining glycemic control, body weight, and BMI. Supplementation also reduces LDL.
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(This article belongs to the Section Obstetrics and Gynecology)
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Open AccessArticle
The Efficacy and Tolerability of Colistin Versus Non-Colistin Antimicrobial Regimens Among Hospitalized COVID-19 Patients with Multidrug-Resistant Bacterial Superinfection: An Observational Multicenter Study
by
Alzahraa M. Fahmy, Marwa O. Elgendy, Alaa Aboud Mohamed, Mohamed S. Imam, Abdullah Nasser Alharbi, Muhammad Husayn Al-Anezi, Omar Mana Aldhafeeri, Saif Mamdouh Aldhafeeri, Jawaher A. Ajeebi, Marwa Kamal and Hasnaa Osama
Medicina 2025, 61(5), 884; https://doi.org/10.3390/medicina61050884 - 13 May 2025
Abstract
Background and Objectives: Bacterial infections amongst COVID-19 patients could be associated with worsened outcomes. This study aimed to investigate the efficacy of colistin antibiotic in multidrug-resistant (MDR) Gram-negative (-ve) secondary bacterial infections among hospitalized COVID-19 patients. Materials and Methods: In this
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Background and Objectives: Bacterial infections amongst COVID-19 patients could be associated with worsened outcomes. This study aimed to investigate the efficacy of colistin antibiotic in multidrug-resistant (MDR) Gram-negative (-ve) secondary bacterial infections among hospitalized COVID-19 patients. Materials and Methods: In this multicentered retrospective study, we analyzed data from the medical records of 116 patients diagnosed with COVID-19 infection and secondary Gram-negative MDR bacterial respiratory infections. Results: We compared those assigned to colistin versus non-colistin-based antimicrobial therapy. The two arms of the study were similar in baseline clinical features, demographics, and Gram-negative pathogens’ distribution. Acinetobacter baumannii (51.7%) was the major pathogen, followed by Klebsiella pneumonia (26.7%). Patients who received colistin-based antimicrobial regimen showed a non-significant difference compared to non-colistin antimicrobial (NCA) therapy (p > 0.05) in the main outcomes. Nephrotoxicity was significantly higher in the IV colistin group, compared to the control (34.1% and 15.3%, p = 0.018). There were substantial differences observed in the levels of serum creatinine and urea among the study arms (p = 0.029 and <0.001, respectively). Conclusions: The combination of colistin with other antimicrobial agents showed comparable results to that of NCA regimens in hospitalized COVID-19 patients with superinfections with multidrug-resistant bacterial isolates; however, there was a notably elevated incidence of nephrotoxicity with colistin antimicrobial therapy. Further randomized controlled trials are needed to assess the therapeutic benefits and tolerability of colistin antimicrobial therapy.
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(This article belongs to the Special Issue Advances in Infectious Diseases and Clinical Microbiology during and after the COVID-19 Pandemic: 2nd Edition)
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Open AccessArticle
Analyzing Key Predictors of Postoperative Delirium Following Coronary Artery Bypass Grafting and Aortic Valve Replacement: A Machine Learning Perspective
by
Marija Stošić, Velimir Perić, Dragan Milić, Milan Lazarević, Jelena Živadinović, Vladimir Stojiljković, Aleksandar Kamenov, Aleksandar Nikolić and Mlađan Golubović
Medicina 2025, 61(5), 883; https://doi.org/10.3390/medicina61050883 - 13 May 2025
Abstract
Background and Objectives: Postoperative delirium (POD) is a frequent and severe complication following cardiac surgery, particularly in high-risk patients undergoing coronary artery bypass grafting (CABG) and aortic valve replacement (AVR). Despite extensive research, predicting POD remains challenging due to the multifactorial and
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Background and Objectives: Postoperative delirium (POD) is a frequent and severe complication following cardiac surgery, particularly in high-risk patients undergoing coronary artery bypass grafting (CABG) and aortic valve replacement (AVR). Despite extensive research, predicting POD remains challenging due to the multifactorial and often non-linear nature of its risk factors. This study aimed to improve POD prediction using an interpretable machine learning approach and to explore the combined effects of clinical, biochemical, and perioperative variables. Materials and Methods: This study included 131 patients who underwent CABG or AVR. POD occurrence was assessed using standard diagnostic criteria. Clinical, biochemical, and perioperative variables were collected, including patient age, sedation type, and mechanical ventilation status. Machine learning analysis was performed using an XGBoost classifier, with model interpretation achieved through SHapley Additive exPlanations (SHAP). Univariate logistic regression was applied to identify significant predictors, while SHAP analysis revealed variable interactions. Results: POD occurred in 34.3% of patients (n = 45). Patients who developed POD were significantly older (67.7 ± 6.5 vs. 64.5 ± 8.7 years, p = 0.020). Sedation with mechanical ventilation and the type of sedative used were strongly associated with POD (both p < 0.001). Sedation during mechanical ventilation showed the strongest association (OR = 2520.0; 95% CI: 80.9–78,506.7; p < 0.00001). XGBoost classifier achieved excellent performance (AUC = 0.998, accuracy = 97.6%, F1 score = 0.976). SHAP analysis identified sedation, mechanical ventilation, and their interactions with fibrinogen, troponin I, leukocyte parameters, and lung infection as key predictors. Conclusions: This study demonstrates that an interpretable machine learning approach can enhance POD prediction, providing insights into the combined impact of multiple clinical, biochemical, and perioperative factors. Integration of such models into perioperative workflows may enable early identification of high-risk patients and support individualized preventive strategies.
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(This article belongs to the Section Intensive Care/ Anesthesiology)
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Open AccessSystematic Review
Association of VDR Polymorphisms (FokI, ApaI, and TaqI) with Susceptibility to Lumbar Disc Herniation: Systematic Review, Meta-Analysis, Trial Sequential Analysis, and Transcriptional Prediction
by
Alireza Sheikhi, Mohsen Nabiuni, Soha Zia, Masoud Sadeghi, Annette B. Brühl and Serge Brand
Medicina 2025, 61(5), 882; https://doi.org/10.3390/medicina61050882 - 12 May 2025
Abstract
Background and Objectives: Lumbar disc herniation (LDH) is influenced by genetic, mechanical, and behavioral factors, with genetic predisposition playing a key role. Vitamin D receptor (VDR) polymorphisms have been implicated in LDH susceptibility, warranting further investigation. This study aimed to
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Background and Objectives: Lumbar disc herniation (LDH) is influenced by genetic, mechanical, and behavioral factors, with genetic predisposition playing a key role. Vitamin D receptor (VDR) polymorphisms have been implicated in LDH susceptibility, warranting further investigation. This study aimed to assess the association between VDR polymorphisms (FokI, ApaI, and TaqI) and LDH risk through a systematic review, meta-analysis, and trial sequential analysis (TSA). Materials and Methods: A systematic literature search was conducted across PubMed, Web of Science, Scopus, Cochrane Library, and CNKI, up until 30 January 2025. A meta-analysis was performed using Review Manager 5.3, with odds ratios (ORs) and 95% confidence intervals (CIs), and heterogeneity assessed via the I2 statistic. The publication bias and TSA were evaluated using CMA 3.0 and TSA software to ensure the reliability of the results. The FATHMM-XF method was applied to predict the functional effect of coding and non-coding polymorphisms. Results: From 79 records, 10 studies were entered into the meta-analysis. The meta-analysis results showed no significant association of FokI and ApaI polymorphisms with LDH, while TaqI exhibited a protective effect, particularly in Asian populations and larger studies. The subgroup analysis revealed significant ethnicity-specific associations for TaqI, with stronger effects observed in Asian compared to Caucasian individuals. The trial sequential analysis indicated that additional studies are required to confirm the findings for FokI, while the recessive model of TaqI polymorphism showed a near-sufficient sample size for reliable conclusions. Conclusions: The TaqI polymorphism, particularly the tt genotype, appears to have a protective effect against LDH, especially in Asian populations and larger studies. However, further large-scale, multi-ethnic research is needed to confirm these findings and explore underlying biological mechanisms.
Full article
(This article belongs to the Special Issue Neuromuscular Disorders: Diagnostical Approaches and Treatments)
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Open AccessReview
A Review of the Ocular Phenotype and Correlation with Genotype in Poretti–Boltshauser Syndrome
by
Won Young Moon, Sanil Shah, Nervine ElMeshad and Samantha R. De Silva
Medicina 2025, 61(5), 881; https://doi.org/10.3390/medicina61050881 - 12 May 2025
Abstract
Background and Objectives: Poretti–Boltshauser syndrome (PBS) is a rare, autosomal recessive disorder caused by pathogenic variants in the LAMA1 gene, resulting in laminin dysfunction. This manifests as a cerebellar malformation with cysts, and patients present with developmental delay and ataxia; however, ocular
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Background and Objectives: Poretti–Boltshauser syndrome (PBS) is a rare, autosomal recessive disorder caused by pathogenic variants in the LAMA1 gene, resulting in laminin dysfunction. This manifests as a cerebellar malformation with cysts, and patients present with developmental delay and ataxia; however, ocular features are not well-characterised. We aimed to summarise the ocular phenotypes of PBS based on cases reported in the literature. Materials and Methods: A literature search was conducted on Medline, Embase, and PubMed on PBS and its ocular associations. Genetically confirmed PBS cases were reviewed, and genotype–phenotype correlations were investigated. Results: Comprehensive reporting of genotypes and associated systemic and ocular phenotypes was available in 51 patients with PBS, who had 52 distinct variants in LAMA1. Most patients carried homozygous variants. The most common genotype was a c.2935delA homozygous mutation, followed by the c.768+1G>A; c.6701delC compound heterozygous mutation. High myopia was the most common ocular phenotype (n = 39), followed by strabismus (n = 27) and ocular motor apraxia (n = 26). A wide range of other ocular manifestations, including retinal dystrophy, retinal neovascularisation, retinal detachment, strabismus, nystagmus, optic disc and iris hypoplasia, were reported. Patients with the same genotype exhibited variable expressivity. Conclusions: PBS has a broad ocular phenotypic spectrum, and characterisation of this variability is important for making an accurate diagnosis and informing genetic counselling.
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(This article belongs to the Section Ophthalmology)
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