Search Results (78)

Background and Clinical Significance: Parkinson’s disease (PD) is a neurodegenerative condition characterized by motor and non-motor symptoms, which significantly impact patients’ autonomy and quality of life levels. Basically, the PD diagnosis is clinical and, in some cases, can be challenging to diagnose due to the heterogeneity of the symptoms. Case Presentation: A 58-year-old woman who, during the COVID-19 lockdown, referred to experiences of slight tremor and stiffness in her left hand at rest, but without any other associated symptoms. Firstly, after consulting a general practitioner (GP), the patient was diagnosed with cervical radiculopathy (CR), presented as essential tremor and stiffness to the hand. Nevertheless, during the initial physiotherapy evaluation, the motor symptoms did not fully align with the diagnosis of CR. For this reason, the presence of non-motor symptoms was thoroughly investigated. Notably, hyperhidrosis was identified as a significant non-motor symptom, leading to the patient’s subsequent referral to a neurologist, who finally diagnosed PD. Conclusions: This case report highlights the essential role of physiotherapists in conducting independent assessments and comprehensive investigations of all patients’ symptoms, even when a medical diagnosis has already been established. This is particularly crucial when there is suspicion that musculoskeletal symptoms may be indicative of neurodegenerative diseases such as PD, which is well-known for its extensive array of non-motor symptoms. Especially in women with PD, non-motor symptoms tend to emerge earlier and in a more subtle manner than motor symptoms, making diagnosis challenging. Therefore, meticulous anamnestic data collection is essential, especially by physiotherapists working in direct-access settings. Full article

Pachydermoperiostosis, also known as primary hypertrophic osteoarthropathy or Touraine–Solente–Golé syndrome, is a rare genetic disorder that represents a small fraction of hypertrophic osteoarthropathy cases. It typically begins during adolescence, affects males more frequently and follows either an autosomal dominant or recessive inheritance pattern. The disease is characterized by the triad of pachydermia, periostosis and digital clubbing, often accompanied by hyperhidrosis, seborrhea, cutis verticis gyrata and joint effusions. Although articular involvement is usually non-erosive, the disorder may mimic inflammatory arthritis and lead to diagnostic delays. Recognition of the major and minor diagnostic criteria is crucial to distinguish PDP from secondary forms related to pulmonary, cardiac or neoplastic disease. Full article

Background: Tap water iontophoresis (TWI) is a well-established second-line treatment for primary focal hyperhidrosis. While its efficacy is proven, data regarding the correlation between session frequency and clinical response, as well as long-term adherence in hospital-based settings, remain limited. Objective: We aimed to evaluate the efficacy and safety of hospital-based TWI and to analyze the relationship between the number of treatment sessions and clinical outcomes. Methods: This retrospective study included 92 patients with primary focal hyperhidrosis treated with TWI. Disease severity was assessed using the Hyperhidrosis Disease Severity Scale (HDSS). Clinical response was categorized as “Excellent” (≥2-point HDSS reduction), “Good” (1-point reduction), or “No Response.” Relapse rates and reasons for treatment discontinuation were analyzed over a 6-month follow-up period. Results: The overall objective response rate was 65.2% (46.7% Excellent, 18.5% Good). A significant positive correlation was found between the total number of treatment sessions and the degree of clinical response (r = 0.401, p < 0.001). Patients achieving an “Excellent” response completed a significantly higher median number of sessions compared to non-responders (p = 0.001). However, among responders, the relapse rate was 85% within six months. Logistical difficulties were the most common reason for treatment discontinuation (17.5%). No compensatory hyperhidrosis or severe adverse events were observed. Conclusions: Hospital-based TWI is a safe and highly effective induction therapy, with success rates closely linked to the number of completed sessions. However, the high relapse rate and logistical barriers to adherence suggest that hospital-based protocols should serve primarily as a bridge to home-based maintenance therapy to ensure sustained long-term remission. Full article

Background/Objectives: In this study, we aimed to validate and psychometrically evaluate a tool for examining sleep disorders in Polish children. Methods: This study involved a randomly selected sample of 348 children aged 6 to 15 years, sourced from preschools, primary schools, and secondary schools in a city with a population exceeding 100,000, in addition to two smaller towns in Poland. Parents were asked to complete the Sleep Disorders Scale for Children (SDSC) in conjunction with a sociodemographic survey. The tool’s reliability was assessed using Cronbach’s alpha (α), and correlations among various domains were evaluated using Spearman’s rank correlation coefficient (Rs). Results: The study demonstrated excellent internal consistency for the SDSC, with a Cronbach’s α value of 0.9. The individual subscales also exhibited acceptable reliability values, ranging from 0.69 to 0.83. Considering T-scores over 70 as indicative of a problem, we identified at least one sleep disorder in 65 participants (18.68%). The most common issues included sleep hyperhidrosis (SHY; 7.47%), disorders of excessive somnolence (DOES; 7.18%), and sleep–wake transition disorders (SWTDs; 5.75%). Students in secondary education were more likely to experience disorders of initiating and maintaining sleep (DIMS), disorders of arousal (DA), and DOES. Conclusions: Based on our findings, the Polish version of the SDSC may be considered a reliable and effective tool for assessing sleep disturbances in school-age children and adolescents. Full article

Thermoregulatory dysfunction—temperature intolerance and/or inappropriate compensation—is an underrecognized feature of Parkinson’s disease (PD) and is linked to poor quality of life. Multiple mechanisms may underlie this dysfunction, including α-synuclein deposition in relevant structures, altered functional connectivity in thermoregulatory networks, and disrupted neurotransmitter modulation, on top of the deleterious consequences of aging. Although multiple advanced tests can confirm this dysfunction, diagnosis is largely based on a detailed history. Once this critical symptom is identified, management focuses on crisis prevention and safety, as PD-specific clinical trials are often lacking. This narrative review of the literature addresses mechanisms, clinical expression, diagnostic evaluation, and management of thermoregulatory dysfunction in PD to help guide care for this underappreciated, yet potentially debilitating, non-motor symptom of PD. Future PD-specific trials are needed to further clarify underlying mechanisms and improve treatment options. Full article

Background/Objectives: Primary palmar hyperhidrosis (PPH) is a socially debilitating condition that often begins in adolescence. Although sympathicotomy is a low-risk procedure, there are conflicting opinions about the optimal time for surgery: some recommend it at onset in adolescence, while others are cautious because of the risk of recurrence associated with juvenile neuroplasticity. The primary objective was to assess the recurrence rate; secondary objectives included the management of hyperhidrosis, compensatory sweating onset, and satisfaction. Methods: This retrospective cohort study included sympathicotomy procedures for palmar hyperhidrosis performed between 2004 and 2024 in patients younger than 18 years with a preoperative Hyperhidrosis Disease Severity Scale (HDSS) class of 4. Quantitative data are presented as medians and interquartile ranges, while categorical data are presented as numbers and percentages. Results: 28 patients were included, of whom 4 underwent single-stage surgery and 24 two-stage surgery. The median age was 17.30 years, with no gender predominance. At a median follow-up of 75 months, the recurrence rate was 10.71%. Twenty-two patients experienced compensatory sweating, with the majority (60.7%) reporting mild symptoms and the remainder reporting moderate. The median patient satisfaction score was 9.34 (range 9–10). Conclusions: Even though PPH typically begins during adolescence, there is no consensus on the appropriateness of sympathicotomy for younger patients, primarily due to concerns about recurrence. Our data, characterized by long-term follow-up and large numbers of minors, are consistent with those observed in adults’ cohorts in terms of hyperhidrosis management, compensatory sweating rates, and, particularly, recurrence rates, supporting the surgical approach even at a young age. Full article

Pituitary pars intermedia dysfunction (PPID) is a common, slowly progressive, neurodegenerative disorder of the older horse. Oxidative damage to the hypothalamic periventricular neurons results in loss of dopaminergic inhibition of the pars intermedia region of the pituitary gland. Consequently, there is increased production of the pro-opiomelanocortin (POMC)-derived hormones normally produced by this region, as well as initial melanocyte hypertrophy and hyperplasia, followed by adenomatous change. Clinical signs that are highly suggestive of the disease are generalised and regional hypertrichosis and delayed/abnormal coat shedding. Numerous clinical signs provide a moderate clinical suspicion, including hyperhidrosis, abnormal fat distribution/regional adiposity, epaxial muscle atrophy/loss of topline, laminitis, weight loss, recurrent infections, behavioural changes/lethargy, polyuria and polydipsia, a pot-bellied appearance, bulging supraorbital fat pads, reduced wound healing, lordosis and infertility. In all animals, a diagnosis of PPID is made based on the signalment, clinical signs and results of further diagnostic tests, with age being a crucial factor to consider. Currently recommended further diagnostic tests are measurement of basal adrenocorticotrophic hormone (ACTH) concentrations (all year) and evaluation of the ACTH response to thyrotrophin-releasing hormone (TRH) using seasonally adjusted references intervals (non-autumn). Animals should also be tested for insulin dysregulation, as laminitis risk in PPID is associated with hyperinsulinaemia. PPID can be managed but not cured; it is a lifelong condition. The individual clinical signs can be managed, e.g., clipping the excessive haircoat and providing unrestricted access to water for individuals with polydipsia. Alternatively, pharmacological management can be employed, and the dopamine-2 receptor agonist pergolide is licensed/approved for the treatment of equine PPID. This should be prescribed in combination with dietary recommendations based on the body condition score and insulin sensitivity status of the individual animal. Full article

Background/Objectives. Heart rate variability (HRV) is the variability in the beat-by-beat heart period. Primary focal hyperhidrosis (PFHH) is a disease characterized by excessive sweat production, strongly affecting social life. Several authors define this condition as a dysautonomic disorder, mainly driven by exaggerated sympathetic activity. The aim of the study was to demonstrate a possible cardiac involvement in the disease. Other outcomes were the occurrence of dysautonomic disorders after surgery and its possible correlation with baseline characteristics. Methods. This observational, controlled trial enrolled patients with a confirmed clinical diagnosis of severe PFHH candidates to thoracoscopic sympathetic chain clamping. Before and after surgery, ECG was obtained using KardiaMobile 6L (AliveCor^®, Mountain View, CA, USA) device with a five-minute recording and HRV was analyzed using Kubios HRV Premium (Kubios©) software. Results. 111 patients were compared to 222 healthy control subjects. No differences were seen in HRV analysis between the two groups at baseline (time-domain p > 0.05, frequency-domain p > 0.05, autonomic indexes p > 0.05). When comparing autonomic function indexes in patients before and after the surgical procedure, no differences were seen in frequency-domain HRV analysis, but a blunted increase in SNS index (0.2 vs. 1.38, p 0.02). No development of systemic dysautonomic disorders nor significant compensatory hyperhidrosis were seen after the surgery. Conclusions. This study shows that PFHH is a peripheral autonomic nervous system derangement, rather than central. Sympathetic chain clamping resulted safe and effective in improving patients’ conditions, with no risks of dysautonomic disorders. Full article

Background and Objectives: Sleep complaints are particularly relevant in the development of children, affecting cognitive development, neuropsychological functioning, and learning abilities. The aims of this study were as follows: (i) to determine the incidence of sleep disorders in low-risk infants and toddlers with hypoxic ischemic encephalopathy (HIE) treated with therapeutic hypothermia (TH), using the Italian version of the Sleep Disturbance Scale for Children (SDSC); and (ii) to compare the data with those of a healthy control group. Materials and Methods: This is a cross-sectional case–control study involving a total of 167 infants and toddlers (aged 6–36 months) with HIE treated with TH and 160 typically developing infants assessed using the SDSC filled out by the mother. A neurocognitive assessment was also performed. Exclusion criteria were mild perinatal asphyxia, major brain lesions, congenital malformations, severe postnatal infectious diseases, metabolic complications, cerebral palsy, neurodevelopmental impairment, and epilepsy. Results: In the study group, an abnormal total SDSC score was found in 1.8% of infants; 10% of infants had an abnormal score on at least one of the SDSC factors. No specific differences in the SDSC total and the factor scores were observed between the study and control group, with the exception of difficulties in maintaining sleep and sleep hyperhidrosis, with higher scores in HIE infants. Conclusions: Low-risk infants and toddlers with HIE showed a low incidence of sleep disorders, similar to those observed in control group, with some exceptions. As these incidences may increase significantly with age, further clinical assessments will be needed to confirm these data at older ages. Full article

Background: Primary focal hyperhidrosis, characterized by excessive sweating primarily affecting the hands and axillae, can significantly impact quality of life. Bilateral thoracic sympathectomy is the gold standard treatment, providing permanent resolution of palmar hyperhidrosis. Most studies evaluating outcomes and patient satisfaction after sympathectomy focus on short- to medium-term follow-up, typically up to 5 years. This study aimed to assess anxiety, satisfaction, and sweat redistribution 20 years after bilateral endoscopic thoracic sympathectomy. Methods: Between January 2002 and December 2003, 106 patients with primary hyperhidrosis underwent bilateral endoscopic thoracic sympathectomy targeting ganglia T2–T3 at our center. The patients were contacted via telephone in 2023 and asked to complete the same survey they had filled out preoperatively and 12 months postoperatively. The survey evaluated sweat redistribution, anxiety, hyperhidrosis-related symptoms, and satisfaction. Anxiety, satisfaction, and perceived sweating were rated using a 5-point visual analog scale (VAS) ranging from 0 (unsatisfied/no symptoms) to 4 (very satisfied/severe symptoms). Results: Of the 106 eligible patients, 24 (22.6%) completed the survey. Most reported persistent anhidrosis (palmar or palmar–axillary) 20 years post-surgery. The survey results remained consistent with those at the 1-year follow-up. Significant sweat redistribution to the abdomen and back was observed. Patient satisfaction remained high, with no significant differences between the 1-year and 20-year assessments. Anxiety significantly decreased compared to preoperative levels (p < 0.001). Conclusions: Bilateral endoscopic thoracic sympathectomy is an effective long-term treatment for reducing excessive sweating. Patient satisfaction remains high over time, despite the persistence of compensatory sweating. Full article

Botulinum toxin is a neurotoxin that is used in the treatments for several medical conditions, such as dystonia, spasticity, hemifacial spasm, overactive bladder, and hyperhidrosis. This toxin can potentially treat several pain disorders through botulinum toxin’s ability to inhibit the release of pro-nociceptive neurotransmitters into the synaptic cleft and its possible action on the central nervous system. This narrative review addresses the use of botulinum toxin in treating primary and secondary headaches and facial pain disorders. The highest level of evidence supporting its use varies among the headache and facial pain disorders: chronic migraine (multicenter, double-blind, placebo-controlled studies), trigeminal neuralgia (double-blind, placebo-controlled studies), post-traumatic headache (double-blind, placebo-controlled study), cluster headache (open-label clinical trials), nummular headache (open-label clinical trial), headache attributed to craniocervical dystonia (prospective cohort study), new daily persistent headache (retrospective cohort study), hemicrania continua, and SUNCT and SUNA (case reports). The site of toxin application and the doses used vary among the studies and depending on headache type. Botulinum toxin has been shown to be safe in different studies, with generally mild adverse reactions. Full article

Background/Objectives: Endoscopic lumbar sympathectomy (ELS) is the definitive treatment for primary plantar hyperhidrosis (PPLH). This study analyzed the mid-term clinical outcomes and technical factors related to ELS. Methods: Retrospective reviews of patients who had ELS for PPLH between July 2019 and May 2023 were analyzed. The study period was categorized into three eras based on the timing when laser Doppler flowmetry (LDF) and PMR (psoas muscle relaxation) were applied; period A represented the initial surgical approach, period B included LDF, and period C included LDF and PMR during surgery. The impacts of these techniques on operative and short-term outcomes were assessed. Additionally, risk factor analysis was performed to find relevant factors related to the reappearance of plantar sweating in long-term follow up. As most patients underwent endoscopic thoracic sympathectomy (ETS) as well, risk assessment for compensatory hyperhidrosis was also investigated. Results: A total of 474 patients were included, and the numbers of patients by periods were as follows: n = 28 in period A, n = 198 in period B, and n = 248 in period C. Operating times were significantly different, with proportional decreases seen with the introduction of LDF and PMR (p < 0.001). In the long-term, reappearance of plantar sweating was noted in 21 patients (4.4%). Risk factors for the reappearance of plantar sweating included an age over 35 years [odds ratio {OR} (95% confidence interval {CI}) 4.57 (1.56–13.40), p = 0.006] and a history of lumbar sympathetic ganglion block (LSGB) prior to ELS [OR (95% CI), 269 (29.30–2460), p < 0.001]. Of 474 patients, 390 (82.3%) patients underwent both ETS and ELS. Risk factors for compensatory hyperhidrosis were age >25 years [OR (95% CI) 0.60 (0.40–0.90), p = 0.014] and concomitant ETS [OR (95% CI) 5.63 (1.88–16.90), p = 0.002]. Compensatory hyperhidrosis among patients who only had ELS was less observed (4/24, 16.7%). Conclusions: ELS is highly effective in treating plantar hyperhidrosis, and LDF and PMR improved perioperative outcomes. Age over 35 and a prior history of LSGB were found to be related to worse long-term outcomes of ELS. Our findings suggest that ELS with additional LDF and PMR could improve outcomes for patients with PPLH. Full article

This article profiles 27 innovative advancements in small-molecule drugs approved by the U.S. Food and Drug Administration (FDA) in 2024. These drugs target various therapeutic areas including non-small cell lung cancer, advanced or metastatic breast cancer, glioma, relapsed or refractory acute leukemia, urinary tract infection, Staphylococcus aureus bloodstream infections, nonalcoholic steatohepatitis, primary biliary cholangitis, Duchenne muscular dystrophy, hypertension, anemia due to chronic kidney disease, extravascular hemolysis, primary axillary hyperhidrosis, chronic obstructive pulmonary disease, severe alopecia areata, WHIM syndrome, Niemann–Pick disease type C, schizophrenia, supraventricular tachycardia, congenital adrenal hyperplasia, and cystic fibrosis. Among these approved small-molecule drugs, those with unique mechanisms of action and designated as breakthrough therapies by the FDA represent a significant proportion, highlighting ongoing innovation. Notably, eight of these drugs (including Rezdiffra^®, Voydeya^®, Iqirvo^®, Voranigo^®, Livdelzi^®, Miplyffa^®, Revuforj^®, and Crenessity^®) are classified as “first-in-class” and have received breakthrough therapy designation. These agents not only exhibit distinct mechanisms of action but also offer substantial improvements in efficacy for patients compared to prior therapeutic options. This article offers a comprehensive analysis of the mechanisms of action, clinical trials, drug design, and synthetic methodologies related to representative drugs, aiming to provide crucial insights for future pharmaceutical development. Full article

Introduction: Sleep is a fundamental biological function critical for physical and mental health. Chronic sleep disturbances can significantly impair cognitive, emotional, and social functioning, leading to deficits in attention, alertness, and executive function, alongside increased irritability, anxiety, and depression. For pediatric patients, such disturbances pose additional concerns, potentially disrupting developmental processes and quality of life for both children and their families. Objectives: Emerging evidence suggests a correlation between neurofibromatosis type 1 (NF1) and an increased prevalence of sleep disorders in children. NF1, a genetic condition affecting multiple body systems, including the nervous system, may predispose children to sleep disturbances due to its neurodevelopmental and behavioral impacts. This observational case–control study aimed to explore the association between NF1 and sleep disorders in pediatric patients, comparing the prevalence and patterns of sleep disturbances between NF1 patients and healthy controls. Patients and Methods: The study included 100 children aged 2–12 years, divided into two groups: 50 with NF1 (case group) and 50 children belonging to the control group. NF1 patients were recruited from the Unit of Rare Diseases of the Nervous System in Childhood at the Policlinico “G. Rodolico—San Marco” University Hospital in Catania. Data were collected using a questionnaire completed by parents, assessing parasomnias, breathing-related sleep disorders, and other behavioral and physiological disturbances; these data were compared to a sleep assessment performed using an Apple Watch Ultra. Results: NF1 patients exhibited a significantly higher prevalence of sleep disorders than controls. Notable differences included increased nocturnal hyperhidrosis (48% vs. 10%), bruxism (48% vs. 28%), restless legs syndrome (22% vs. 4%), frequent nighttime awakenings (22% vs. 8%), and sleep paralysis (12% vs. 0%). A finding of poorer sleep quality also emerged from the results of sleep analysis using an Apple Watch Ultra. Conclusions: These findings confirm an elevated risk of sleep disorders in children with NF1, emphasizing the importance of early identification and management to improve quality of life and mitigate cognitive and behavioral impacts. Further research is essential to understand the mechanisms underlying these associations and develop targeted interventions for this population. Full article

Botulinum toxin (BoNT) is well-recognized throughout dermatology for its cosmetic indications and growing therapeutic value. Recent studies have trialed BoNT in the treatment of hair and scalp disorders, many of which lack long-term effective treatments and significantly impact quality of life. In this review, we summarize the current clinical literature on this topic to comprehensively evaluate the efficacy, safety, and clinical value of BoNT in treating hair and scalp conditions. A literature search on PubMed/MEDLINE and Scopus identified 40 articles reporting the use of 25–200 units of BoNT-A or B in 689 patients with hair loss (79.5%), scalp seborrheic dermatitis/hyperseborrhea (10%), craniofacial hyperhidrosis (9%), folliculitis decalvans/dissecting folliculitis (0.86%), scalp pain (0.43%), or linear scleroderma (0.29%). Most studies on BoNT therapy for androgenetic alopecia (AGA) reported mild or non-significant hair growth; however, considerable variability in outcome measures complicates the ability to draw definitive conclusions or justify the use of BoNT over established AGA therapies. BoNT-A and B showed consistent efficacy in treating craniofacial hyperhidrosis with minimal side effects. Additional scalp conditions may benefit from BoNT therapy, but the evidence is limited, and larger, controlled studies are needed to better understand BoNT’s clinical value in these conditions. Full article