Search Results (118)

Foreign Language Syndrome (FLS) is a rare neuropsychiatric condition characterized by the sudden, involuntary use of a non-native language, with concurrent loss or suppression of the native language. Distinct from Foreign Accent Syndrome (FAS), FLS often arises acutely following anesthesia, brain injury, or psychological stress. Although neuroimaging typically reveals no structural pathology, functional disconnection within bilingual language control systems has been hypothesized. Case reports suggest contributions from both neurological disruptions—such as transient cortical dysfunction—and psychiatric mechanisms, including dissociation and conversion phenomena. This review synthesizes the clinical features, diagnostic strategies, neurocognitive models, and psychiatric interpretations of FLS. It emphasizes the importance of multidisciplinary evaluation and treatment and outlines prognosis patterns. The need for longitudinal follow-up, functional imaging studies, and centralized case databases is highlighted to better understand the pathophysiology and clinical management of this enigmatic syndrome. Full article

Polycystic liver disease (PLD) is a rare genetic disorder characterized by the development of >10 fluid-filled cysts in the liver. While PLD can occur in isolation, it is most commonly associated with autosomal dominant polycystic kidney disease, adding complexity to its management. PLD is often asymptomatic but can lead to hepatomegaly, causing symptoms such as abdominal distension, pain and discomfort, early satiety, gastroesophageal reflux, and malnutrition, ultimately affecting patients’ quality of life. Current treatment strategies, including pharmacological and interventional approaches, focus on reducing liver volume and alleviating symptoms. However, management remains largely symptomatic, as no definitive therapies exist to halt cyst progression. Liver transplantation is the only curative option for patients with severe, progressive disease and refractory complications. The EASL guidelines recognize that PLD-related symptoms, primarily due to hepatomegaly, can contribute to involuntary weight loss and recommend assessing symptomatic patients for malnutrition and sarcopenia. Although evidence suggests that patients with PLD may be at risk of malnutrition, original data on the quality and extent of nutritional alterations remain scarce. The potential influence of nutrition on disease progression, symptom burden, and overall well-being is also largely unexplored. Given these knowledge gaps, addressing nutritional challenges, such as early satiety, is essential for optimizing symptom management and maintaining overall nutritional status. This review outlines a possible pathophysiology of malnutrition, specific dietary considerations and recommendations, and weight management in patients with PLD. Additionally, dietary complexities in patients with concurrent renal involvement are discussed, offering a practical framework for clinicians and dietitians in managing this challenging condition. Full article

Introduction: Overactive bladder (OAB) and urinary incontinence (UI) are prevalent, particularly in older adults, and affect quality of life. OAB involves urgency, frequency, nocturia, and urgency incontinence, often linked to involuntary detrusor contractions. Treatment guidelines recommend a stepwise approach, starting with pelvic floor muscle training (PFMT), followed by pharmacological or minimally invasive therapies, such as neuromodulation. However, the combined effects of PFMT and neuromodulation have not been well established. This study aimed to evaluate the impact of combining pelvic floor exercises with neuromodulation versus PFMT with sham neuromodulation or standard physiotherapy after a 12-week intervention in individuals with OAB and UI. Methods/Materials: A double-blind, randomized controlled trial was designed with three groups: PFMT + neuromodulation, PFMT + sham, and conventional physiotherapy (control) in a 1:1:1 ratio. This study followed the CONSORT guidelines and was registered at ClinicalTrials.gov (NCT06783374). The sample size was calculated using GPower^® software, assuming a Cohen’s effect size of 1.04, a power of 0.80, an alpha of 0.05, and a 15% dropout rate, totaling 63 participants (21 per group). Participants attended 24 sessions over 12 weeks (2 sessions per week). The interventions were based on previously validated protocols. Outcomes: The primary outcomes included health-related quality of life, pelvic floor muscle function, pain, adherence, and general health. The secondary outcomes included Incontinence Quality of Life questionnaire, 3-day bladder diary, International Consultation on Incontinence Questionnaire–Urinary Incontinence Short Form, kinesiophobia, and electromyographic data. Full article

Objective: The aim of the study was to assess the effectiveness and safety of long-acting injectable anti-psychotic treatment (LAIA) amongst children and adolescents. Given the difficulty of performing an randomized controlled trial (RCT), we suggested comparing children and adolescents to young adults who were treated with LAIAs, and extrapolating data regarding efficacy and safety. Method: We compared data from medical files of adult inpatients treated with LAIAs to children and adolescent inpatients treated with LAIAs, between January 2014 and April 2021. Results: clinical global impression (CGI) scale score and rate of side effects (79% vs. 92%, p-value = 0.106) were not different between children and adolescents and young adults treated with LAIAs. There were no significant differences found between the groups in most demographic and clinical parameters such as gender distribution, legal status (voluntary or involuntary hospitalization), first hospitalizations and subsequent hospitalizations. Significant differences were found in duration of hospitalizations (144 days vs.50 days, p-value < 0.001), the indication for recommending LAIA treatment, diagnosis, the distribution of specific LAIAs and the rates of patients treated for side effects of anti-psychotic treatment. Conclusions: Results suggest that LAIA treatment may be as effective amongst children and adolescents as it is for adults. More research should be done to assess safety and efficacy of LAIA treatment in children and adolescents in the short and long term. Full article

Urinary incontinence is characterized by the involuntary leakage of urine. The primary cause of stress urinary incontinence in women is the weakening of the pelvic floor muscles. Stress urinary incontinence (SUI) is a significant global health problem that impacts mainly middle-aged women, with a severe impact on their quality of life. Traditional diagnostic methods and treatments often fail, although technological innovations have improved diagnostic accuracy, such as specific questionnaires or transperineal ultrasound. While medical therapies and surgical procedures are continuously being developed, controversies about the correct choices regarding diagnostic and treatment methods continue to exist. The aim of our review was to identify the innovative diagnostic tools and effective treatment procedures for SUI. A narrative review was conducted due to the heterogeneity of the studies. New methods for diagnosis and treatment have gained ground, and we have covered them in our review; however, the field continues to expand. A personalized approach to diagnosis is also a requirement because of the limitations of conventional urodynamic studies, and we emphasize the importance of such personalization in enhancing clinical decision making. Future medical strategies that combine both preventive and therapeutic care are desirable. Newer technologies were brought to light in this review, including stem cell therapy and laser therapy. Full article

Genetic dystonias are a heterogeneous group of movement disorders characterized by involuntary, sustained muscle contractions that cause repetitive movements and abnormal postures. Often beginning in childhood, they can significantly affect quality of life. Although individually rare, genetic causes are collectively relevant in pediatric dystonias, with over 250 associated genes. Among these, TOR1A, SGCE, and KMT2B are the most frequently reported in pediatric forms. Diagnosis is challenging due to the wide clinical and genetic variability. Recent advances in genetic testing, including whole-exome and whole-genome sequencing, have improved the early identification of causative variants. Functional data on selected mutations are helping to refine genotype–phenotype correlations. Management typically requires a multidisciplinary approach. Symptomatic treatments include anticholinergics, benzodiazepines, and botulinum toxin, while deep brain stimulation can be effective in refractory cases, especially in patients with TOR1A variants. Disease-modifying therapies are also emerging, such as gene therapy for AADC deficiency, highlighting the potential of precision medicine. This review provides an updated overview of pediatric genetic dystonias, with a focus on differential diagnosis and treatment strategies. Early and accurate diagnosis, together with personalized care, is key to improving outcomes in affected children. Full article

Background/Objectives: The administration of parenteral medications is essential in managing acute arousal within the Behavioral Assessment Unit (BAU) of the emergency department (ED), where timely and effective intervention is critical. This study aims to evaluate current practices surrounding the use of parenteral medications for patients with acute agitation, focusing on adherence to protocols, medication safety, documentation accuracy, and patient outcomes. Methods: A retrospective analysis was conducted on 177 cases from December 2023 to February 2024. The study assessed the demographics, diagnoses, treatment protocols, and patient outcomes, with a particular emphasis on the use of parenteral medications such as benzodiazepines and antipsychotics. The relationship between medication administration and involuntary admission, mechanical restraint usage, and patient outcomes was also explored. Results: The majority of patients were aged between 21 and 30 years, and there was a predominance of male patients across both groups. Schizophrenia was the most common diagnosis, with a higher prevalence in the parenteral group (34%) compared to the oral-only group (24%), and personality disorders were more frequent in the parenteral group. Intramuscular (IM) medication administration was strongly associated with the use of mechanical restraint, with patients receiving IM medication being 35 times more likely to require restraint, emphasizing the link between more intensive treatment approaches and behavioral challenges. The most frequently administered medications were diazepam (40.6%) and olanzapine (36.5%), with olanzapine, droperidol, and diazepam most commonly used parenterally. Documentation of physical assessments prior to parenteral administration was present in most cases, though comprehensive evaluations such as ECGs were inconsistently performed. Conclusions: Parenteral medications, including benzodiazepines and antipsychotics, were effective in rapidly stabilizing patients, but the study emphasizes reducing dependency on mechanical restraints. Tailoring treatment to patient characteristics and employing alternative de-escalation strategies can improve safety and align with recovery-oriented care. This study highlights the need for evidence-based practices to optimize care and improve patient outcomes in ED settings. Further research is needed to explore long-term outcomes and refine non-coercive care approaches. Full article

Background: Cervical dystonia (CD) is a chronic neurological disorder characterized by involuntary neck muscle contractions, leading to abnormal head postures, pain, and functional impairment. Botulinum toxin type A (BoNT-A) remains the treatment of choice, but its efficacy is highly dependent on injection accuracy. Various techniques, including palpation-guided, ultrasound-guided, and electromyography-guided (EMG), have been developed to optimize delivery, each with distinct advantages and limitations. Methods: A systematic search of PubMed and Scopus was conducted up until 30 December 2024, using defined keywords related to BoNT-A, CD, and injection techniques. Studies were included if they reported clinical outcomes of BoNT-A injection methods in adult CD patients. Data on efficacy, safety, accuracy, and muscle targeting were extracted and synthesized. Results: Seven studies comprising 239 patients were included: two randomized controlled trials, one retrospective study, one cohort study, one systematic review, one literature review, and one cadaveric study. The most common CD subtype was torticollis/torticaput (49.79%). Frequently targeted muscles included the trapezius (56.9%), levator scapulae (51.7%), and splenius capitis (48.3%). Ultrasound guidance consistently demonstrated superior injection accuracy and reduced adverse effects due to real-time anatomical visualization. EMG-guided techniques showed advantages in identifying dystonic muscles, especially when anatomy was unclear. In contrast, palpation-guided injections were less accurate and suitable only for superficial muscles. Dosing varied by product, with mean doses of 117–118 units for onabotulinumtoxinA and incobotulinumtoxinA, and 405 units for abobotulinumtoxinA. Adverse events were generally mild, including local discomfort, dysphagia, and transient muscle weakness. Conclusions: Ultrasound- and EMG-guided injections enhance the precision, safety, and efficacy of BoNT-A therapy for CD compared to anatomy-guided techniques. While ultrasound guidance improves anatomical accuracy, EMG remains valuable for functionally identifying dystonic muscles. Integration of both may offer optimal outcomes. However, further high-quality, standardized trials are needed to definitively establish best practices. Full article

Stress urinary incontinence (SUI) is characterized by the involuntary leakage of urine when bladder pressure exceeds urethral closing pressure during routine activities such as physical exertion, coughing, exercise, or sneezing. SUI is the most prevalent form of urinary incontinence, with a reported prevalence ranging from 10% to 70%, and its incidence increases with age. As the global population continues to age, the prevalence and clinical significance of SUI are expected to rise accordingly. The pathophysiology of SUI is primarily driven by two mechanisms: urethral hypermobility, resulting from compromised supporting structures, and intrinsic urethral sphincter deficiency, characterized by the deterioration of urethral mucosa and muscle tone. Current treatment options for SUI include conservative management strategies, which heavily rely on patient adherence and are associated with high recurrence rates, and surgical interventions, such as sling procedures, which offer effective solutions but are costly and carry the risk of adverse side effects. These limitations highlight the urgent need for more effective and comprehensive treatment modalities. Exosomes, nano-sized (30–150 nm) extracellular vesicles secreted by nearly all cell types, have emerged as a novel therapeutic option due to their regenerative, anti-fibrotic, pro-angiogenic, anti-apoptotic, anti-inflammatory, and anti-hypoxic properties. These biological functions position exosomes as a promising alternative to conventional therapies for SUI. Exosome therapy has the potential to enhance tissue regeneration, restore urethral function, and repair nerve and muscle damage, thereby reducing symptom burden and improving patients’ quality of life. Additionally, exosome-based treatments could offer a less invasive alternative to surgery, potentially decreasing the need for repeated interventions and minimizing complications associated with current procedures. In this literature review, we critically assess the current state of research on the potential use of exosomes in treating SUI, highlighting their therapeutic mechanisms and potential clinical benefits. Full article

Stress urinary incontinence (SUI) is characterized by the involuntary leakage of urine during activities that increase intra-abdominal pressure. The management of SUI encompasses surgical treatments, such as colposuspension and sling procedures, and nonsurgical ones that involve pelvic floor muscle treatment, behavioral therapies, as well as pharmacological interventions. By exploring nonsurgical options initially, individuals have the opportunity to address the root causes of stress urinary incontinence and strengthen pelvic floor muscles. Background/Objectives: This article delves into the conservative measures in managing SUI among women and the options of minimally invasive strategies for SUI, such as the injection of platelet-rich plasma, stem cells, bulking agents, and laser and radiofrequency therapy. Methods: A search of the literature from 2010 until January 2024 was carried out on PubMed, Cochrane Library, and Web of Science research databases. Results: A total of 34 studies on human females assessing the roles of platelet-rich plasma, laser and radiofrequency therapy, bulking agents, and stem cell therapy were included. Conclusions: The shortcoming of most conservative techniques seems to be represented by the temporary effects and the necessity of repeated treatments. To establish effective medical techniques, adopting more standardized procedures and conducting comprehensive randomized controlled trials is imperative. Full article

Background/Objectives: Nocturnal enuresis (NE) is a common condition in children, affecting more than 10% of 6-year-olds and typically characterized by involuntary bedwetting during sleep. Although the exact causes remain unclear, ultrasound has emerged as a valuable tool for assessing bladder function and predicting therapy response and relapse, with several studies linking urological abnormalities like reduced bladder capacity and increased wall thickness to treatment outcomes. Methods: We performed a literature review utilizing five distinct search queries on PubMed with the following keywords: “enuresis & ultrasound”, “enuresis & bladder ultrasound”, “enuresis & bladder wall”, “enuresis & bladder capacity”, and “enuresis & bladder thickness”. We reviewed each article that met the eligibility criteria, and after a thorough selection, we included 17 studies. Results: Bladder ultrasound is a valuable tool for assessing bladder function and structure in children with NE, providing crucial insights into bladder capacity, wall thickness, and the bladder wall thickness index (BVWI). These ultrasound measurements correlate with the severity of NE and treatment success, aiding in personalized therapy, particularly for children with smaller bladder capacities and thicker bladder walls. Although studies have explored the link between ultrasound findings and treatment response, further research is needed to standardize methods and confirm these connections. Conclusions: The review highlights the predictive role of ultrasound in enuresis management, focusing on the response rate and choice of therapy. Future studies should investigate how bladder imaging can predict both short-term and long-term treatment outcomes, with current evidence supporting its use in customizing NE treatment for improved results. Full article

Background/Objectives: Blepharospasm (BSP) is a focal dystonia characterized by involuntary, bilateral spasms of the orbicularis oculi muscle. While botulinum toxin (BoNT) is the standard treatment, cognitive tasks such as reading and writing may exert transient modulatory effects on spontaneous blinking and dystonic spasms. This study investigates the potential of cognitive training, including reading and writing tasks, as a complementary therapeutic approach to BoNT in BSP patients. Methods: A total of 16 BSP patients were randomly assigned to two groups: Group A (n = 6) received cognitive training alongside BoNT, while Group B (n = 10) received only BoNT. Cognitive training included structured reading and writing exercises over three months. Blink rate (BR) and dystonic spasms were assessed at baseline (T0), one month (T1), and three months (T2) post-treatment. Results: Both groups exhibited a significant reduction in BR at T1 (p = 0.001), but Group A exhibited a greater improvement in BR (45.4%) compared to that of Group B (12.6%, p = 0.04). Reading and writing tasks were the most effective in reducing BR and dystonic spasms (p < 0.001). No significant correlation was found between the clinical and demographic features (p > 0.05). Conclusions: Cognitive training significantly enhances the therapeutic effects of BoNT on BR in BSP patients, suggesting its potential as a non-invasive complementary intervention. These preliminary findings warrant further investigation using larger cohorts and employing neurophysiological assessments. Full article

Primary cervical dystonia (PCD), or spasmodic torticollis, is a focal dystonia characterized by involuntary and often painful muscle contractions, leading to abnormal cervical movements and postures. While botulinum toxin injections are the first-line treatment, additional therapies, such as segmental muscle vibration (SMV), remain underexplored. SMV, a non-invasive neuromodulation technique, may enhance motor cortex excitability and promote neuroplasticity, offering potential benefits in PCD management. This single-center triple-blinded randomized controlled trial evaluates SMV’s efficacy in reducing dystonic pain and improving quality of life in PCD patients undergoing standardized rehabilitation after botulinum toxin treatment. Participants with a pain level of ≥3 on the Numerical Rating Scale will be randomized into two groups. The experimental group will receive 80 Hz SMV during a 10-session rehabilitation program, while the control group will undergo sham SMV. Both groups will follow identical physiotherapy and occupational therapy protocols. The primary outcomes include changes in pain intensity and function, assessed at baseline, mid-treatment, and post-treatment using validated scales. The secondary outcomes will evaluate quality of life and patient satisfaction. This study hypothesizes that SMV will significantly reduce dystonic pain and enhance quality of life, supporting its integration into multidisciplinary rehabilitation for dystonic disorders. Trial registration number: NCT06748846. Full article

Background/Objectives: Epilepsy is one of the most common chronic neurological disorders, characterized by alterations in neuronal electrical activity that result in recurrent seizures and involuntary body movements. Anticonvulsants are the primary treatment for this condition, helping patients improve their quality of life. However, the development of new drugs with fewer side effects and greater economic accessibility remains a key focus in nanomedicine. Macamides, secondary metabolites derived from Maca (Lepidium meyenii), represent a promising class of novel drugs with diverse therapeutic applications, particularly in the treatment of neurological disorders. Methods: In this study, we optimized the potential of the macamide N-3-methoxybenzyl-linoleamide (3-MBL) as an anticonvulsant agent through its encapsulation in PEGylated liposomes conjugated with OX26 F(ab′)₂ fragments. Results: These immunoliposomes exhibited a size of 120.52 ± 9.46 nm and a zeta potential of −8.57 ± 0.80 mV. Furthermore, in vivo tests using a pilocarpine-induced status epilepticus model revealed that the immunoliposomes provided greater efficacy against epileptic seizures compared to the free form of N-3-methoxybenzyl-linoleamide at the same dose. Notably, the observed anticonvulsant effect was comparable to that of carbamazepine, a traditional FDA-approved antiepileptic drug. Conclusions: This pioneering work employs liposomal nanocarriers to deliver macamides to the brain, aiming to set a new standard for the use of modified liposomes in anticonvulsant epilepsy treatment. Full article

Background/Objectives: Treatment with aromatase inhibitors can worsen frailty syndrome and psychological symptoms in women diagnosed with breast cancer (BC) receiving these drugs to prevent cancer recurrence. We analyze whether postmenopausal women with localized BC receiving aromatase inhibitors (AIs) treatment can achieve improvements in their mental health and their level of frailty through a multimodal program that includes supervised physical exercise and health education workshops. Methods: A total of 52 postmenopausal women with a prior diagnosis of BC and receiving hormonal treatment with AIs were included in the multimodal physical exercise and health education program and evaluated before and after it. The assessment included the following five frailty syndrome (FS) criteria: involuntary weight loss, weakness, low physical activity, slow gait speed, and low muscle strength. Mental health was assessed using the Goldberg scale, with its subscales for anxiety and depressive symptoms. The Athens scale was used to assess subjective sleep quality. Results: There was a significant difference in the number of robust, pre-frail and frail women after the program compared to the baseline. Six women did not fulfill any criteria for (robust) FS before the program (11.5%), and thirty-three women (63.5%) after the program did not fulfill any criteria for FS. A total of 33 (63.5%) women met one or two FS criteria (pre-frail) before the program, and 18 (34.6%) met one or two FS criteria after the program; thirteen (25%) women met three or more FS criteria (frail) before the program and one (1.9%) after it (p < 0.001). A statistically significant improvement on the Goldberg scale was observed (on both the subscales for anxiety and depressive symptoms) (p < 0.001). A statistically significant improvement was also noted on the Athens insomnia scale (p < 0.001). A multivariate regression model analysis identified marital status (being married) (p = 0.047, beta coefficient= −0.249, 95% CI −1.4844–−0.14) and the percentage of attendance at training sessions (p = 0.041, beta coefficient = −0.290, 95% CI 0.104–0.002) as associated variables, with a lower score on the Goldberg depression subscale. Conclusions: Mental health and frailty, common in postmenopausal women diagnosed with BC on hormonal treatment with AI, can be improved with multimodal programs of supervised physical exercise and health education. Full article