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The Yale Journal of Biology and Medicine Jun 2024Joint hypermobility syndromes, particularly chronic pain associated with this condition, including Hypermobile Ehlers-Danlos Syndrome (hEDS) and Hypermobility Spectrum... (Review)
Review
Chronic Pain and Joint Hypermobility: A Brief Diagnostic Review for Clinicians and the Potential Application of Infrared Thermography in Screening Hypermobile Inflamed Joints.
Joint hypermobility syndromes, particularly chronic pain associated with this condition, including Hypermobile Ehlers-Danlos Syndrome (hEDS) and Hypermobility Spectrum Disorders (HSD), present diagnostic challenges due to their multifactorial origins and remain poorly understood from biomechanical and genomic-molecular perspectives. Recent diagnostic guidelines have differentiated hEDS, HSD, and benign joint hypermobility, providing a more objective diagnostic framework. However, incorrect diagnoses and underdiagnoses persist, leading to prolonged journeys for affected individuals. Musculoskeletal manifestations, chronic pain, dysautonomia, and gastrointestinal symptoms illustrate the multifactorial impact of these conditions, affecting both the physical and emotional well-being of affected individuals. Infrared thermography (IRT) emerges as a promising tool for joint assessment, especially in detecting inflammatory processes. Thermal distribution patterns offer valuable insights into joint dysfunctions, although the direct correlation between pain and inflammation remains challenging. The prevalence of neuropathies among hypermobile individuals accentuates the discordance between pain perception and thermographic findings, further complicating diagnosis and management. Despite its potential, the clinical integration of IRT faces challenges, with conflicting evidence hindering its adoption. However, studies demonstrate objective temperature disparities between healthy and diseased joints, especially under dynamic thermography, suggesting its potential utility in clinical practice. Future research focused on refining diagnostic criteria and elucidating the underlying mechanisms of hypermobility syndromes will be essential to improve diagnostic accuracy and enhance patient care in this complex and multidimensional context.
Topics: Humans; Thermography; Joint Instability; Chronic Pain; Ehlers-Danlos Syndrome; Inflammation; Infrared Rays
PubMed: 38947102
DOI: 10.59249/WGRS1619 -
BMC Sports Science, Medicine &... Jun 2024Upper Cross Syndrome is a pattern of muscle imbalance and postural dysfunction that can cause discomfort and pain. This study's objective was to compare the effects of...
INTRODUCTION
Upper Cross Syndrome is a pattern of muscle imbalance and postural dysfunction that can cause discomfort and pain. This study's objective was to compare the effects of Pilates exercises, corrective exercises, and Alexander's technique on upper cross syndrome in adolescent girls aged 13-16 years: a six-week intervention study.
METHODS
The present study was Quasi-experimental, and its statistical population consisted of 13 to 16-year-old female students. Forty-five students who were diagnosed with upper cross syndrome were purposefully selected as samples and randomly assigned to three groups: Pilates exercises (N = 15), corrective exercises (N = 15), and Alexander's technique (N = 15). The participants performed exercises for 60 min per session, three sessions per week, and six weeks. This study's objective was to compare the effects of Pilates exercises, corrective exercises, and Alexander's technique on upper cross syndrome in adolescent girls aged 13-16 years: a six-week intervention study. This study was retrospectively registered in the Iranian Registry of Clinical Trials (IRCT) on 2023-09-19 to comply with the journal's policies. The assigned trial registration number is IRCT20230810059106N1.
RESULTS
The results of the dependent t-test showed significant decreases in forward head angle (p = 0.0001), rounded shoulder (p = 0.001), and kyphosis (p = 0.0001) as a result of corrective exercises. There were also significant decreases in forward head angle (p = 0.0001), rounded shoulder (p = 0.002), and kyphosis (p = 0.001) after six weeks of practising Alexander's technique. However, in the case of Pilates exercises, a significant decrease in forward head angle (p = 0.110), rounded shoulder (p = 0.598), and kyphosis (p = 0.371) was not observed. The one-way analysis of variance revealed a significant difference in the forward head angle (p = 0.012), rounded shoulders (p = 0.013), and kyphosis (p = 0.009).
CONCLUSIONS
The effect of Alexander's technique and corrective exercises on forward head angle, rounded shoulder, and kyphosis abnormalities was almost similar and more effective than pilates exercises.
PubMed: 38943175
DOI: 10.1186/s13102-024-00933-2 -
Heart & Lung : the Journal of Critical... Jun 2024Progressive exercise intolerance is a hallmark of pulmonary hypertension (pH), severely impacting patients' independence and quality of life (QoL). Accumulating evidence... (Review)
Review
Respiratory, cardiovascular and musculoskeletal mechanisms involved in the pathophysiology of pulmonary hypertension: An updated systematic review of preclinical and clinical studies.
BACKGROUND
Progressive exercise intolerance is a hallmark of pulmonary hypertension (pH), severely impacting patients' independence and quality of life (QoL). Accumulating evidence over the last decade shows that combined abnormalities in peripheral reflexes and target organs contribute to disease progression and exercise intolerance.
OBJECTIVE
The aim of this study was to review the literature of the last decade on the contribution of the cardiovascular, respiratory, and musculoskeletal systems to pathophysiology and exercise intolerance in pH.
METHODS
A systematic literature search was conducted using specific terms in PubMed, SciELO, and the Cochrane Library databases for original pre-clinical or clinical studies published between 2013 and 2023. Studies followed randomized controlled/non-randomized controlled and pre-post designs.
RESULTS
The systematic review identified 25 articles reporting functional or structural changes in the respiratory, cardiovascular, and musculoskeletal systems in pH. Moreover, altered biomarkers in these systems, lower cardiac baroreflex, and heightened peripheral chemoreflex activity seemed to contribute to functional changes associated with poor prognosis and exercise intolerance in pH. Potential therapeutic strategies acutely explored involved manipulating the baroreflex and peripheral chemoreflex, improving cardiovascular autonomic control via cardiac vagal control, and targeting specific pathways such as GPER1, GDF-15, miR-126, and the JMJD1C gene.
CONCLUSION
Information published in the last 10 years advances the notion that pH pathophysiology involves functional and structural changes in the respiratory, cardiovascular, and musculoskeletal systems and their integration with peripheral reflexes. These findings suggest potential therapeutic targets, yet unexplored in clinical trials, that could assist in improving exercise tolerance and QoL in patients with pH.
PubMed: 38941771
DOI: 10.1016/j.hrtlng.2024.06.001 -
Journal of Virology Jun 2024Chikungunya virus (CHIKV) is a mosquito-borne pathogen responsible for an acute musculoskeletal disease in humans. Replication of the viral RNA genome occurs in...
Chikungunya virus (CHIKV) is a mosquito-borne pathogen responsible for an acute musculoskeletal disease in humans. Replication of the viral RNA genome occurs in specialized membranous replication organelles (ROs) or spherules, which contain the viral replication complex. Initially generated by RNA synthesis-associated plasma membrane deformation, alphavirus ROs are generally rapidly endocytosed to produce type I cytopathic vacuoles (CPV-I), from which nascent RNAs are extruded for cytoplasmic translation. By contrast, CHIKV ROs are poorly internalized, raising the question of their fate and functionality at the late stage of infection. Here, using cryogenic-electron microscopy approaches, we investigate the outcome of CHIKV ROs and associated replication machinery in infected human cells. We evidence the late persistence of CHIKV ROs at the plasma membrane with a crowned protein complex at the spherule neck similar to the recently resolved replication complex. The unexpectedly heterogeneous and large diameter of these compartments suggests a continuous, dynamic growth of these organelles beyond the replication of a single RNA genome. Ultrastructural analysis of surrounding cytoplasmic regions supports that outgrown CHIKV ROs remain dynamically active in viral RNA synthesis and export to the cell cytosol for protein translation. Interestingly, rare ROs with a homogeneous diameter are also marginally internalized in CPV-I near honeycomb-like arrangements of unknown function, which are absent in uninfected controls, thereby suggesting a temporal regulation of this internalization. Altogether, this study sheds new light on the dynamic pattern of CHIKV ROs and associated viral replication at the interface with cell membranes in infected cells.IMPORTANCEThe Chikungunya virus (CHIKV) is a positive-stranded RNA virus that requires specialized membranous replication organelles (ROs) for its genome replication. Our knowledge of this viral cycle stage is still incomplete, notably regarding the fate and functional dynamics of CHIKV ROs in infected cells. Here, we show that CHIKV ROs are maintained at the plasma membrane beyond the first viral cycle, continuing to grow and be dynamically active both in viral RNA replication and in its export to the cell cytosol, where translation occurs in proximity to ROs. This contrasts with the homogeneous diameter of ROs during internalization in cytoplasmic vacuoles, which are often associated with honeycomb-like arrangements of unknown function, suggesting a regulated mechanism. This study sheds new light on the dynamics and fate of CHIKV ROs in human cells and, consequently, on our understanding of the Chikungunya viral cycle.
PubMed: 38940586
DOI: 10.1128/jvi.00368-24 -
Annals of Agricultural and... Jun 2024Multiple endocrine neoplasia type 2B (MEN 2B) is a rare autosomal dominant hereditary cancer syndrome which is characterized by the appearance of medullary thyroid...
Multiple endocrine neoplasia type 2B (MEN 2B) is a rare autosomal dominant hereditary cancer syndrome which is characterized by the appearance of medullary thyroid carcinoma (MTC), pheochromocytoma, parathyroid adenomas, ganglioneuromas of the digestive tract, and musculoskeletal abnormalities. The case is presented of a 31-year-old male patient with numerous polyps in the colon described as ganglioneuromas which are ectodermal neoplasms emerging from a proliferation of ganglionic cells of the sympathetic nervous system. The results show elevated levels of normetanephrine, which is an endogenous catecholamine metabolite, and has high diagnostic sensitivity as well as specificity in pheochromocytoma detection. The patient underwent partial thyreoidectomy due to a nodular goiter. He was admitted to the Department of Gastroenterology to lead a diagnostic pathway towards MEN 2B.
Topics: Humans; Male; Adult; Multiple Endocrine Neoplasia Type 2b; Ganglioneuroma
PubMed: 38940117
DOI: 10.26444/aaem/171736 -
Radiographics : a Review Publication of... Jul 2024Congenital talipes equinovarus (CTEV), also known as clubfoot, is a common musculoskeletal entity that affects one to two per 1000 live births worldwide. Imaging... (Review)
Review
Congenital talipes equinovarus (CTEV), also known as clubfoot, is a common musculoskeletal entity that affects one to two per 1000 live births worldwide. Imaging modalities including radiography, US, and MRI have emerged as valuable tools for the diagnosis, treatment, and monitoring of CTEV. The deformity is characterized by midfoot cavus, forefoot adductus, and hindfoot varus and equinus. The Ponseti method of manipulation and serial casting is the standard treatment of CTEV. Radiography shows the anatomy, position, and relationships of the different bones of the foot. US allows accurate assessment of cartilaginous and bony structures, in addition to its inherent advantages such as absence of ionizing radiation exposure. One of the indications for US is to monitor the response to Ponseti method treatment. MRI enables visualization of bones, cartilage, and soft tissues and allows multiplanar evaluation of deformities, providing a comprehensive imaging analysis of CTEV. An integrated approach that combines clinical examination and imaging findings is essential for effective management of CTEV. The authors provide a comprehensive overview of CTEV with a review of imaging modalities to help evaluate CTEV, focusing on radiography, US, and MRI. Using this article as a guide, radiologists involved in the assessment and treatment of CTEV can contribute to the management of the condition. RSNA, 2024 Supplemental material is available for this article.
Topics: Clubfoot; Humans; Magnetic Resonance Imaging; Infant, Newborn; Infant
PubMed: 38935547
DOI: 10.1148/rg.230178 -
Animals : An Open Access Journal From... Jun 2024The Ridden Horse Pain Ethogram (RHpE) was developed to facilitate the identification of musculoskeletal pain. The aim of the current study was to collate behavioural...
The Ridden Horse Pain Ethogram (RHpE) was developed to facilitate the identification of musculoskeletal pain. The aim of the current study was to collate behavioural data using the RHpE from horses at competitions assumed by their owners and/or riders to be fit for competition. The objectives were to quantify the frequency of occurrence of behaviours in pain-free horses and those with lameness or abnormalities of canter and to determine any differences between disciplines and levels of competition. The RHpE was applied to 1358 horses competing in Grand Prix (GP) dressage (n = 211), 5* three-day events (TDE) (n = 137), or low-level one-day events (ODE) (n = 1010). The median RHpE score for all horses was 4 (interquartile range [IQR] 2, 5; range 0, 12) and the median lameness grade was 0 (IQR 0, 1; range 0, 4). The Kruskal-Wallis test, followed by Dunn's test for pairwise comparisons, found a difference in median RHpE scores between low-level ODE and GP dressage ( = 0.001), but not between 5* TDE and low-level ODE ( = 0.09) or between GP dressage and 5* TDE ( = 1.00). The median RHpE score was highest for low-level ODE. The Chi-square/Fisher's exact test identified a significant difference in prevalence of most of the 24 behaviours of the RHpE in non-lame compared with lame horses. Recognition of the behaviours of non-lame horses may improve equine welfare and performance, and rider comfort, confidence, and safety.
PubMed: 38929449
DOI: 10.3390/ani14121831 -
Children (Basel, Switzerland) Jun 2024Tooth eruption is an essential process for the development of the oral and maxillofacial system. Several inherited and acquired diseases might affect this tightly... (Review)
Review
Tooth eruption is an essential process for the development of the oral and maxillofacial system. Several inherited and acquired diseases might affect this tightly regulated process, resulting in premature, delayed, or even failed tooth eruption. The purpose of this article is to review the literature and the clinical parameters of metabolic bone diseases that affect tooth eruption. It examines the physiological aspects of tooth eruption and the pathophysiological changes induced by metabolic bone diseases, including changes in bone metabolism, density, and structure. The search strategy for this review included an electronic search in PubMed, Google Scholar, Medline, Scopus, and the Cochrane Library using the following keywords: "metabolic bone diseases", "tooth eruption", "delayed tooth eruption", and each reported disease in combination with "tooth eruption disorders", covering publications up to March 2024 and limited to English-language sources. Understanding the influence of metabolic bone diseases on tooth eruption is crucial for managing both dental and skeletal manifestations associated with these disorders. This review suggests that a multidisciplinary approach to treatment may significantly improve oral outcomes for patients suffering from such conditions. Clinicians should be aware of the specific dental abnormalities that may arise and consider comprehensive evaluations and individualized treatment plans. These findings underscore the need for further research into targeted therapies that address these abnormalities.
PubMed: 38929327
DOI: 10.3390/children11060748 -
Children (Basel, Switzerland) May 2024Recognized as one of the most serious musculoskeletal deformities, occurring in 1-2 per 1000 newborns, 80% of clubfeet are idiopathic while 20% present with associated...
BACKGROUND
Recognized as one of the most serious musculoskeletal deformities, occurring in 1-2 per 1000 newborns, 80% of clubfeet are idiopathic while 20% present with associated malformations. The etiopathogenesis of clubfoot is described as multifactorial, including both genetic and environmental risk factors. The aim of this study was to analyze possible genetic causes of isolated and syndromic clubfoot in Serbian children, as well as to correlate clinical and genetic characteristics that would provide insight into clubfoot etiopathogenesis and possibly contribute to global knowledge about clinical features of different genetically defined disorders.
METHODS
We evaluated 50 randomly selected, eligible children with clubfoot aged 3 to 16 years that were initially hospitalized and treated at University Children's Hospital between November 2006 and November 2022. The tested parameters were gender, age, dominant foot, affected foot, degree of deformity, treatment, neuromuscular disorders, positive family history, and maternal smoking. According to the presence of defined genetic mutation/s by whole exome sequencing (WES), patients were separated into two groups: positive (with genetic mutation/s) and negative (without genetic mutation/s).
RESULTS
Seven patients were found to be positive, i.e., with genetic mutation/s. A statistically significant difference between categorical variables was found for families with a history of clubfoot, where more than half (57.14%) of patients with confirmed genetic mutation/s also had a family history of genetic mutation/s ( = 0.023).
CONCLUSIONS
The results from this study further expand the genetic epidemiology of clubfoot. This study contributes to the establishment of genetic diagnostic strategies in pediatric patients with this condition, which can lead to more efficient genetic diagnosis.
PubMed: 38929227
DOI: 10.3390/children11060647 -
Biomolecules May 2024Metabolic syndrome (MetS) is a cluster of metabolic abnormalities affecting ~25% of adults and is linked to chronic diseases such as cardiovascular disease, cancer, and...
Reduced Insulin Resistance and Oxidative Stress in a Mouse Model of Metabolic Syndrome following Twelve Weeks of Citrus Bioflavonoid Hesperidin Supplementation: A Dose-Response Study.
Metabolic syndrome (MetS) is a cluster of metabolic abnormalities affecting ~25% of adults and is linked to chronic diseases such as cardiovascular disease, cancer, and neurodegenerative diseases. Oxidative stress and inflammation are key drivers of MetS. Hesperidin, a citrus bioflavonoid, has demonstrated antioxidant and anti-inflammatory properties; however, its effects on MetS are not fully established. We aimed to determine the optimal dose of hesperidin required to improve oxidative stress, systemic inflammation, and glycemic control in a novel mouse model of MetS. Male 5-week-old C57BL/6 mice were fed a high-fat, high-salt, high-sugar diet (HFSS; 42% kcal fat content in food and drinking water with 0.9% saline and 10% high fructose corn syrup) for 16 weeks. After 6 weeks of HFSS, mice were randomly allocated to either the placebo group or low- (70 mg/kg/day), mid- (140 mg/kg/day), or high-dose (280 mg/kg/day) hesperidin supplementation for 12 weeks. The HFSS diet induced significant metabolic disturbances. HFSS + placebo mice gained almost twice the weight of control mice ( < 0.0001). Fasting blood glucose (FBG) increased by 40% ( < 0.0001), plasma insulin by 100% ( < 0.05), and HOMA-IR by 150% ( < 0.0004), indicating insulin resistance. Hesperidin supplementation reduced plasma insulin by 40% at 140 mg/kg/day ( < 0.0001) and 50% at 280 mg/kg/day ( < 0.005). HOMA-IR decreased by 45% at both doses ( < 0.0001). Plasma hesperidin levels significantly increased in all hesperidin groups ( < 0.0001). Oxidative stress, measured by 8-OHdG, was increased by 40% in HFSS diet mice ( < 0.001) and reduced by 20% with all hesperidin doses ( < 0.005). In conclusion, hesperidin supplementation reduced insulin resistance and oxidative stress in HFSS-fed mice, demonstrating its dose-dependent therapeutic potential in MetS.
Topics: Animals; Hesperidin; Oxidative Stress; Insulin Resistance; Metabolic Syndrome; Male; Mice; Citrus; Mice, Inbred C57BL; Dietary Supplements; Disease Models, Animal; Dose-Response Relationship, Drug; Blood Glucose; Diet, High-Fat; Antioxidants
PubMed: 38927040
DOI: 10.3390/biom14060637