Search Results (451)

Obstructive sleep apnea syndrome (OSAS) is a prevalent disorder with significant systemic and oral health consequences. This narrative review synthesizes the current knowledge on the interplay between dental health and sleep apnea, highlighting the expanding role of dentists in the screening, early detection, and management of OSAS. Validated questionnaires, anatomical assessments, and anthropometric measurements have enhanced dentists’ capacity for early screening. However, knowledge and training gaps remain, particularly in low- and middle-income countries. Dentists are uniquely positioned to identify anatomical and oral risk factors, facilitate referrals for diagnosis, and provide therapeutic interventions such as oral appliance therapy. Interdisciplinary collaboration between dental and medical professionals is essential to improve early detection, treatment outcomes, and patient quality of life. Enhancing education, standardizing protocols, and integrating dentists into multidisciplinary care pathways are critical steps for advancing the management of sleep apnea. Full article

Introduction: Finger injuries are common in pediatric patients and typically heal well with conservative management. However, rare fracture patterns involving significant displacement and physeal injury, such as the one described in this case, require specialized surgical intervention to ensure proper healing and prevent long-term complications. Case Presentation: A 12-year-old left-hand-dominant female presented with pain, swelling, and deformity at the distal interphalangeal (DIP) joint following hyperextension of the left fifth digit. Initial radiographs revealed a volar displaced intra-articular fracture with physis involvement, confirmed by computed tomography (CT) imaging. Conservative management with closed reduction and splinting failed to achieve adequate alignment. Surgical intervention was performed via a dorsal approach, utilizing ORIF with K-wire fixation to restore joint congruity and ensure anatomic alignment. Outcomes: Postoperative follow-up demonstrated satisfactory healing, maintained reduction, and resolution of pain with no complications. The patient regained functional use of the digit with minimal stiffness, and the growth plate remained uninvolved during the recovery period. Discussion: This case underscores the importance of advanced imaging, early referral, and tailored surgical intervention for rare mallet fractures involving volar displacement and physeal injury. ORIF provided reliable stabilization and optimal outcomes in this complex case. Conclusions: Volar displaced Salter–Harris III fractures of the DIP joint are rare and challenging injuries in pediatric patients. This case highlights the role of ORIF in achieving successful outcomes and emphasizes the importance of precise reduction and stabilization to prevent long-term complications. Full article

Molar pregnancy (MP) is a gestational disorder resulting from abnormal fertilization, leading to atypical trophoblastic proliferation and the formation of a complete or partial hydatidiform mole. This condition represents the most common form of gestational trophoblastic disease (GTD) and carries a significant risk of progression to gestational trophoblastic neoplasia (GTN). Although rare in high-income countries, MP remains up to ten times more prevalent in low-income and developing countries, contributing to preventable maternal morbidity and mortality. This narrative review provides an updated, practical overview of the clinical presentation, diagnosis, treatment, and follow-up of MP. A key focus is the challenge of early diagnosis, particularly given the increasing frequency of first-trimester detection, where classical histopathological criteria may be subtle, leading to diagnostic errors. The review innovates by integrating advanced diagnostic methods—combining histopathology, immunohistochemistry using p57Kip2, Ki-67, and p53 markers, along with cytogenetic analysis—to improve diagnostic accuracy in early gestation. The central role of referral centers is also emphasized, not only in facilitating timely treatment and access to chemotherapy, but also in implementing standardized post-molar follow-up protocols that reduce progression to GTN and maternal mortality. By focusing on both advanced diagnostic strategies and the organization of care through referral centers, this review offers a comprehensive, practice-oriented perspective to optimize patient outcomes in GTD and address persistent care gaps in high-burden regions. Full article

Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous disorder that impairs mucociliary clearance and leads to progressive lung disease. This study aimed to characterize lung function decline in a genetically homogeneous cohort of Puerto Rican patients with RSPH4A-associated PCD and to develop a clinical tool to predict lung function decline and support transplant referral decisions. We conducted a retrospective chart review of patients (n = 25) with a confirmed RSPH4A [c.921+3_6delAAGT] genetic variant, collecting longitudinal spirometry data and applying linear regressions to calculate each patient’s individual FEV₁ decline. The median FEV₁ at diagnosis was 55%, with a median annual decline of −0.75% predicted. Adults exhibited significantly lower lung function compared to pediatric patients, while no difference was seen between males and females. Based on this observed decline, we developed the Predicted Capacity Decline Index (PCDx), an index that estimates the age and time until a patient reaches the 30% FEV₁ threshold, the point at which lung transplant referral is typically considered. Our findings underscore the need for early intervention and suggest that genotype-specific tools like the PCDx may enhance clinical decision-making in managing progressive lung disease in PCD. Full article

An increase in invasive group A streptococcal (iGAS) infections among children under 15 years of age was reported in several countries between late 2022 and early 2023. This retrospective study aims to describe the epidemiology and clinical features of iGAS infections in children in Cyprus during the same period. Medical records of patients under 16 years old admitted with iGAS infection to the Archbishop Makarios Hospital, the only tertiary paediatric referral centre in Cyprus, between 1 January 2021 and 30 June 2024, were reviewed. Twenty-two cases were identified, of which twenty were classified as confirmed and two as probable. Half of the cases occurred in children aged 0–4 years, and 59% were recorded between December 2022 and April 2023. Scarlet fever was diagnosed in six children, five of whom developed pneumonia and empyema. Streptococcal toxic shock syndrome (STSS) was observed in five patients, resulting in two deaths and one case requiring prolonged extracorporeal membrane oxygenation (ECMO). The overall case fatality rate was 9.1%. Emm 1, belonging to the M1UK clone, was the predominant strain (66.6%). The findings underscore the severity of iGAS infections, particularly in younger children, and highlight the importance of timely diagnosis, appropriate management and continued epidemiological surveillance. Full article

Hemorrhoidal disease remains a prevalent yet often overlooked condition, affecting millions worldwide and imposing a substantial healthcare burden. Despite the availability of multiple treatment options, gaps persist in patient education, early symptom recognition, and optimal treatment selection. Recent advancements are evolving the pharmacist’s role in hemorrhoid management beyond traditional over-the-counter (OTC) and prescription approaches. The 2024 American Society of Colon and Rectal Surgeons (ASCRS) guidelines introduce updates on the use of phlebotonics, a class of venoactive drugs gaining recognition for their role in symptom management, yet largely underutilized in U.S. clinical practice. In parallel, novel clinical tools are reshaping how pharmacists engage in assessment and care. The integration of digital decision-support platforms and structured evaluation algorithms now empowers them to systematically evaluate symptoms, identify red flag signs, and optimize patient triage. These tools reduce diagnostic variability and improve decision-making accuracy. Given their accessibility and trusted role in frontline healthcare, pharmacists are well-positioned to bridge these critical gaps by adopting emerging treatment recommendations, leveraging algorithm-driven assessments, and reinforcing best practices in patient education and referral. This narrative review aims to equip pharmacists with updated insights into evidence-based hemorrhoid management strategies and provide them with structured assessment algorithms to standardize symptom evaluation and treatment pathways. By integrating these innovations, pharmacists can enhance treatment outcomes, promote patient safety, and contribute to improved quality of life (QoL) for individuals suffering from hemorrhoidal disease. Full article

Background/Objectives: Romania remains a tuberculosis (TB) hotspot in the European Union, yet host-derived factors of poor outcomes are poorly characterised. We quantified circulating pro-inflammatory cytokines and examined their interplay with behavioural risk factors, the nutritional status, and the clinical course in adults hospitalised with pulmonary TB. We analysed 80 adults with microbiologically confirmed pulmonary TB and 40 respiratory symptom controls; four TB patients (5%) died during hospitalisation, all within 10 days of admission. Methods: A retrospective analytical case–control study was conducted at the Constanța regional TB referral centre (October 2020—October 2023). Patients with smear- or culture-confirmed TB were frequency-matched by sex, 10-year age band, and BMI class to culture-negative respiratory controls at a 2:1 ratio. The patients’ serum interferon-γ (IFN-γ), interleukin-1α (IL-1α), interleukin-1β (IL-1β), and tumour-necrosis-factor-α (TNF-α) were quantified within 24 h of admission; the neutrophil/lymphocyte ratio (NLR) was extracted from full blood counts. Independent predictors of in-hospital mortality were identified by multivariable logistic regression; factors associated with the length of stay (LOS) were modelled with quasi-Poisson regression. Results: The median TNF-α (24.1 pg mL⁻¹ vs. 16.2 pg mL⁻¹; p = 0.009) and IL-1β (5.34 pg mL⁻¹ vs. 3.67 pg mL⁻¹; p = 0.008) were significantly higher in the TB cases than in controls. TNF-α was strongly correlated with IL-1β (ρ = 0.80; p < 0.001), while NLR showed weak concordance with multiplex cytokine patterns. Among the patients with TB, four early deaths (5%) exhibited a tripling of TNF-α (71.4 pg mL⁻¹) and a doubling of NLR (7.8) compared with the survivors. Each 10 pg mL⁻¹ rise in TNF-α independently increased the odds of in-hospital death by 1.8-fold (95% CI 1.1–3.0; p = 0.02). The LOS (median 29 days) was unrelated to the smoking, alcohol, or comorbidity load, but varied across BMI strata: underweight, 27 days; normal weight, 30 days; overweight, 23 days (Kruskal–Wallis p = 0.03). In a multivariable analysis, under-nutrition (BMI < 18.5 kg m⁻²) prolonged the LOS by 19% (IRR 1.19; 95% CI 1.05–1.34; p = 0.004) independently of the disease severity. Conclusions: A hyper-TNF-α/IL-1β systemic signature correlates with early mortality in Romanian pulmonary TB, while under-nutrition is the dominant modifiable determinant of prolonged hospitalisation. Admission algorithms that pair rapid TNF-α testing with systematic nutritional assessment could enable targeted host-directed therapy trials and optimise bed utilisation in high-burden settings. Full article

Background/Objectives: An aberrant internal carotid artery (aICA) in the middle ear is a rare vascular anomaly with potentially catastrophic consequences if injured during otologic procedures. Given its rarity, standardized treatment recommendations are lacking. This study aims to present four cases of aICA bleeding, systematically review the literature, and evaluate the outcomes of conservative and interventional management. Methods: A retrospective review of four patients treated for intraoperative aICA hemorrhage at two tertiary referral centers was performed. A systematic review was conducted following PRISMA guidelines. Neurologic and otologic outcomes, hemostasis, and complications were analyzed. Results: Two patients were treated conservatively with external auditory canal packing, while two required endovascular coil embolization due to pseudoaneurysm formation or persistent bleeding. One patient suffered a stroke due to traumatic ICA occlusion. The systematic review identified 20 additional cases. Conservative treatment alone sufficed in 37.5% of cases, whereas 62.5% required vessel occlusion via coiling, balloon occlusion, or stenting. Neurologic complications occurred in 25% of patients, while otologic outcomes varied widely and were inconsistently reported. Conclusions: Initial external auditory canal packing and a CT angiogram should be recommended for all patients. Initial conservative management may be appropriate for cases with early hemostasis if close monitoring is ensured. Endovascular treatment is often necessary, particularly in cases of pseudoaneurysm or rebleeding. Full article

Background/Objectives: Immune checkpoint inhibitors have significantly transformed the treatment paradigm of advanced melanoma, leading to substantial improvements in survival outcomes. However, this therapeutic success is accompanied by a spectrum of treatment-related adverse events, some of which are increasingly recognised as enduring and non-reversible. Whilst early-onset immune-related toxicities have been well characterized, late-onset toxicities, often emerging in patients with long-term disease control, remain understudied and are frequently overlooked. Methods: To address this knowledge gap, we conducted a retrospective multicentre study in three UK tertiary referral centres, exploring immune-related adverse events in 246 patients with melanoma who received immune checkpoint inhibitors in the advanced setting. We defined late-onset immune-related adverse events as those occurring at least 3 months after the last cycle of immune checkpoint inhibitors. Results: Although most patients experienced early-onset toxicity, almost 15% of patients developed late-onset immune-related adverse events, including skin rash, colitis, hepatitis, and arthritis, among others. These were often challenging to manage and necessitated the use of systemic steroids. Up to 2% of patients presented ultra-late-onset toxicities, defined as those events occurring at least 12 months after treatment completion. Conclusions: This study provides valuable insights into the characteristics of late-onset immune-related adverse events. To further advance our understanding of these late-onset toxicities, dedicated prospective studies are needed to assess risk factors associated with their development and their impact on quality of life. Additionally, translational research focused on finding predictive biomarkers is essential to identify patients at a higher risk of developing delayed adverse events and to understand how best to manage them. Full article

Background/Objectives: Peripheral artery disease (PAD) impacts more than 200 million individuals globally and leads to mortality and morbidity secondary to progressive limb dysfunction and amputation. However, clinical management of PAD remains suboptimal, in part because of the lack of standardized biomarkers to predict patient outcomes. Growth differentiation factor 15 (GDF15) is a stress-responsive cytokine that has been studied extensively in cardiovascular disease, but its investigation in PAD remains limited. This study aimed to use explainable statistical and machine learning methods to assess the prognostic value of GDF15 for limb outcomes in patients with PAD. Methods: This prognostic investigation was carried out using a prospectively enrolled cohort comprising 454 patients diagnosed with PAD. At baseline, plasma GDF15 levels were measured using a validated multiplex immunoassay. Participants were monitored over a two-year period to assess the occurrence of major adverse limb events (MALE), a composite outcome encompassing major lower extremity amputation, need for open/endovascular revascularization, or acute limb ischemia. An Extreme Gradient Boosting (XGBoost) model was trained to predict 2-year MALE using 10-fold cross-validation, incorporating GDF15 levels along with baseline variables. Model performance was primarily evaluated using the area under the receiver operating characteristic curve (AUROC). Secondary model evaluation metrics were accuracy, sensitivity, specificity, negative predictive value (NPV), and positive predictive value (PPV). Prediction histogram plots were generated to assess the ability of the model to discriminate between patients who develop vs. do not develop 2-year MALE. For model interpretability, SHapley Additive exPlanations (SHAP) analysis was performed to evaluate the relative contribution of each predictor to model outputs. Results: The mean age of the cohort was 71 (SD 10) years, with 31% (n = 139) being female. Over the two-year follow-up period, 157 patients (34.6%) experienced MALE. The XGBoost model incorporating plasma GDF15 levels and demographic/clinical features achieved excellent performance for predicting 2-year MALE in PAD patients: AUROC 0.84, accuracy 83.5%, sensitivity 83.6%, specificity 83.7%, PPV 87.3%, and NPV 86.2%. The prediction probability histogram for the XGBoost model demonstrated clear separation for patients who developed vs. did not develop 2-year MALE, indicating strong discrimination ability. SHAP analysis showed that GDF15 was the strongest predictive feature for 2-year MALE, followed by age, smoking status, and other cardiovascular comorbidities, highlighting its clinical relevance. Conclusions: Using explainable statistical and machine learning methods, we demonstrated that plasma GDF15 levels have important prognostic value for 2-year MALE in patients with PAD. By integrating clinical variables with GDF15 levels, our machine learning model can support early identification of PAD patients at elevated risk for adverse limb events, facilitating timely referral to vascular specialists and aiding in decisions regarding the aggressiveness of medical/surgical treatment. This precision medicine approach based on a biomarker-guided prognostication algorithm offers a promising strategy for improving limb outcomes in individuals with PAD. Full article

This perspective paper presents a first-person account of life with motor neurone disease (MND). Through the lens of lived experience, it explores the complex and often prolonged diagnostic journey, shaped in part by the protective grip of denial. This paper then delves into the emotional impact of MND on the individual and their close relationships, capturing the strain on identity and family dynamics. It also highlights the vital role of the multidisciplinary team in providing support throughout the journey. A central focus of the paper is the personal journey of voice banking. It reflects on the restorative experience of reclaiming a pre-disease voice through tools such as ElevenLabs^TM. This narrative underscores the critical importance of early intervention and timely access to voice banking, positioning voice not only as a tool for communication but also as a powerful anchor of identity, dignity, and agency. The paper concludes by highlighting key systemic gaps in MND care. It calls for earlier referral to speech pathology, earlier access to voice banking, access to psychological support from the time of diagnosis, and better integration between research and clinical care. Full article

Background: Gorlin–Goltz syndrome (GGS), also known as basal cell nevus syndrome or nevoid basal cell carcinoma syndrome, is a rare genetic disorder caused by mutations in the PTCH1, PTCH2, or SUFU genes, leading to an increased risk of neoplasms. Craniofacial anomalies are among the most common features of GGS. This paper aimed to highlight the similarities and differences in clinical presentation across different ages and to emphasize the importance of including all family members in the diagnostic process. The diagnosis can often be initiated by a dentist through routine radiographic imaging. Case Presentation: We present a 17-year longitudinal follow-up of a male patient with recurrent multiple odontogenic keratocysts and other manifestations consistent with GGS. Nearly 20 years later, the patient’s mother presented with similar clinical features suggestive of GGS. Diagnostic imaging, including contrast-enhanced computed tomography (CT), cone-beam CT, magnetic resonance imaging, and orthopantomography, was performed, and the diagnosis was confirmed through genetic testing. Interdisciplinary management included age-appropriate surgical and dermatological treatments tailored to lesion severity. Conclusions: Given the frequent involvement of the stomatognathic system in GGS, dentists play a critical role in early detection and referral. Comprehensive family-based screening is essential for timely diagnosis, improved monitoring, and effective management of this multisystem disorder. Full article

Background/Objectives: Cervical cancer remains a significant global health issue, with high incidence and mortality rates, particularly in Eastern Europe. Despite the availability of vaccines against human papillomavirus (HPV), regular screening remains crucial for prevention. Testing for HPV, alone or combined with cytology, has become an alternative to traditional methods. However, since many HPV infections are transient, additional tests are needed to identify high-risk cases. Methods: This study aims to generate detailed statistical data specific to the Bulgarian population, reinforcing the necessity of incorporating updated European methodologies and algorithms for the prophylaxis and prevention of cervical carcinoma. Results: By evaluating epidemiological trends, risk factors, and the effectiveness of current preventive measures, this research seeks to provide a strong foundation for enhancing cervical cancer screening and early detection programs. This method improves triage by identifying women who require further evaluation, ensuring timely referrals for colposcopy or biopsy. Conclusions: While liquid-based cytology (LBC) and HPV genotyping improve detection, the introduction of p16/Ki-67 dual staining has enhanced risk stratification, offering higher sensitivity and specificity for detecting high-grade lesions. These advancements are improving cervical cancer screening and patient outcomes. Full article

Background/Objectives: International guidelines recommend the combined use of the General Movement Assessment (GMA), Hammersmith Infant Neurological Examination (HINE), and magnetic resonance imaging (MRI) to support early and accurate diagnosis of cerebral palsy (CP). However, their implementation remains inconsistent. This study aimed to map their reported global use and identify associated enablers and barriers. Methods: A scoping review was conducted following JBI and PRISMA-ScR guidelines. Systematic searches were performed in PubMed, Cochrane, PEDro, ProQuest, Web of Science, and Scopus. Eligible studies were charted and thematically analyzed, focusing on tools use and implementation factors at individual, organizational, and system levels. Results: Fourteen articles (seven surveys, seven implementation studies) from seven countries met the inclusion criteria. While awareness of GMA, HINE, and MRI was generally high, routine clinical use was limited—particularly outside structured implementation initiatives. Major barriers emerged at the system level (e.g., limited training access, time constraints, lack of standardized referral pathways) and social level (e.g., unclear leadership and coordination). Conclusions: The limited integration of GMA, HINE, and MRI into routine practice reflects a persistent “know–do” gap in early CP detection. Since implementation is shaped by the dynamic interplay of capability, opportunity, and motivation, bridging this gap demands sustained and equitable action—by addressing system-wide barriers, supporting professional development, and embedding early detection within national care pathways. Full article

Background/Objectives: Infantile hemangioma (IH) is a common vascular tumor in neonates, influenced by multiple prenatal and perinatal factors. This study aimed to identify risk factors in both infants and mothers, assess their link to clinical characteristics and severity, and evaluate treatment outcomes when systemic propranolol therapy was administered. Methods: We conducted a retrospective observational study analyzing 43 infants under 12 months, including 11 neonates (<28 days) diagnosed with IH. Maternal and neonatal factors, diagnostic timelines, clinical presentation, and treatment efficacy were examined. Data analysis included descriptive statistics, focusing on gestational age, birth weight, Apgar scores, and the Infantile Hemangioma Referral Score (IHReS). Results: The study found a female predominance and a correlation between IH and pre-term birth (50%) and low birth weight (<2760 g, 51.16%). Maternal anemia (23%) and gestational hypertension (9%) were present in the cohort, but no statistical association with IH severity was found. A significant number (44.18%) were diagnosed within the first two weeks postpartum. The IHReS was inversely correlated with Apgar scores, with newborns scoring above 8 having a lower IHReS. Treatment with propranolol (1–3 mg/kg/day) was highly effective, resulting in significant lesion regression in most patients. Mild complications included sleep disturbances (12%) and diarrhea (9%). The most affected areas were the face/eyelid (32.55%), limbs (18.6%), and anterior thorax. Additionally, 42% of cases had an IHReS above 4, with multiple hemangiomas increasing severity. Conclusions: IH was common in pre-term and low-birth-weight infants, whereas the maternal comorbidities observed in this small cohort did not show a definitive association, underscoring the need for controlled studies. Early diagnosis, risk stratification, and timely propranolol therapy are crucial in achieving favorable outcomes. Further research is needed to assess long-term effects and evaluate risks of treatment rebound. Full article