European Journal of Translational Myology

Endocrine disorders in Kearns-Sayre syndrome with different severity of symptoms: two case reports and a literature review

2024-10-30T15:41:43+00:00

Kearns-Sayre Syndrome (KSS) is a variant of mitochondrial disorder caused by a Mitochondrial Deoxyribonucleic Acid (mtDNA) deletion. Clinical manifestations of KSS can include different organ and system involvement. Different organ malfunctions, more often cardiac dysfunction, can lead to death. No effective treatment of this condition exists to date. Here, we report two patients with KSS. Female patient with a large-scale deletion of 7,020 base pairs (bp) suffered from hypogonadism, diabetes mellitus with fluctuating glucose levels, and had poor general health. A male patient with a common 4,977 bp deletion did not have diabetes mellitus but had impaired glucose tolerance. He also had a higher level of general health than our female patient. Both patients had reduced Bone Mineral Density (BMD). In female patients, calcium and vitamin D supplementation combined with metabolic therapy and nutritional drink supplements helped increase BMD (up to 32% in L₁-L₄). Comparing these two patients suggests that the larger the mtDNA deletion is, the more severe the course of the disease is. Not only does the size of the mtDNA deletion probably determine the severity of the disease, but also such factors as mtDNA heteroplasmy level, presence of mtDNA duplications, and pleioplasmy. Moreover, continuous nonconsecutive metabolic therapy and nutritional supplements are helpful in the prevention of deterioration of symptoms and general health.

Obsessive-compulsive disorder, major depressive disorder, and addiction: the vicious relationship

2024-11-13T14:54:47+00:00

Obsessive-Compulsive Disorder (OCD) and Major Depressive Disorder (MDD) are prevalent psychiatric conditions, each affecting a substantial portion of the global population. When these conditions coexist with a Substance Use Disorder (SUD), the complexity of the clinical presentation is heightened. Herein, we describe two cases of individuals who have comorbid OCD and/or MDD and substance use disorder that highlight the importance of addressing the coexisting psychiatric illness when treating the SUD. These cases highlight the importance of tailored, multidisciplinary care, offering a potential therapeutic strategy based on medications for comprehensive recovery in individuals facing complex comorbid disorders. An integrated treatment approach, encompassing both psychiatric and substance treatment perspectives, is imperative.

Mobility Medicine: A call to unify hyper-fragmented specialties by abstracts sent to 2025Pdm³, and typescripts to Ejtm³, and Diagnostics

2024-12-12T14:18:36+00:00

Mega scientific conferences increasingly suffer from the need for short and poster presentations without discussion. An alternative is to organize workshops in hotels large enough to accommodate all participants. This significantly increases the opportunities for constructive discussion during breakfasts, lunches, dinners and long evenings that can bring together experts of scientific and clinical sub-specialties and young fellows. Time for groups' discussions and new collaborations are increased so as the job opportunities for the young researchers. The Padova Muscle Days have offered in the previous thirty-five years these opportunities, which have matured into innovative and multidisciplinary results to the point that it came naturally to underline it with a neologism now included in the title of the 2025 event: “Mobility Medicine”, a discipline not yet officially recognised, that makes explicit the call for rejoining knowledges dispersed in sub-specialisations. The included program of the Padua Days on Muscle and Mobility Medicine 2025 (2025Pdm3) will be hosted at the Hotel Petrarca in Euganean Thermae (Padua, Italy) from 25 to 29 March 2025. It further testifies by listing unique Sessions that it is possible to organize valid countermeasures to the inevitable tendencies towards hyperspecialization that the explosive increase in scientific progress brings with it. Furthermore, the European Journal of Translational Myology and Mobility Medicine (Ejtm3) will accept typescripts on results presented at the 2025Pdm3, together with the Special Section: New Trends in Musculoskeletal Imaging of the MDPI (Basel) Journal Diagnostics, because diagnosis is essential to prevent, manage and follow-up not only neuro-metabolic-muscular disorders, but the unavoidable physiologicical decay of performances in early and late aging. Hoping many others share our dreams, we look forward to meeting you at 2025Pdm3 conference.

Effectiveness of laser therapy among patients with open-angle glaucoma: a systematic review and meta-analysis study

2024-10-22T15:05:16+00:00

This study aims to evaluate the efficacy of selective laser trabeculoplasty in improving the intraocular pressure in patients diagnosed with open-angle glaucoma. A comprehensive search was performed across electronic databases, including PubMed, Scopus, and Web of Science, until June 2024, using keywords related to "selective laser trabeculoplasty" and "open-angle glaucoma." Studies were chosen based on set eligibility criteria. Data extraction was carried out by two independent reviewers, and statistical analyses were performed using a random-effects model to calculate the pooled mean differences in IOP reduction and overall success rates. The initial search yielded 3111 articles, with 23 studies included in the systematic review and 22 in the meta-analysis. The pooled MD in IOP reduction between the SLT and control groups was -1.44 mm Hg (95% CI: -2.19 to -0.70, p < 0.01). Subgroup analyses revealed a MD of -0.76 mm Hg (95% CI: -1.31 to -0.21, p < 0.01) when comparing SLT to medication, and -0.42 mm Hg (95% CI: -0.64 to -0.19, p < 0.01) when comparing 180-degree SLT to 360-degree SLT. The pooled success rate favored SLT with an odds ratio (OR) of 0.71 (95% CI: 0.51 to 0.99, p = 0.05). There was significant heterogeneity among the studies (I² = 71%). SLT is effective in lowering IOP in OAG patients, demonstrating significant efficacy compared to medication and different SLT protocols. The findings underscore SLT's potential as a reliable treatment option. However, the observed heterogeneity underscores the necessity for standardized protocols in future research to improve comparability and verify SLT's long-term effectiveness.

Placebo-controlled effect of topical Qust (Costus) oil on postmenopausal women's sexual desire disorder: a double-blind, randomized clinical trial

2024-09-16T14:45:29+00:00

Decreased libido and anorgasmia are common problems for women after menopause that reduce the quality of life of couples. This study examined the effect of topical Qust oil on sexual desire disorder in postmenopausal women. In this double-blind, randomized, clinical trial, 110 postmenopausal women with decreased sexual desire visiting a Traditional Medicine Center and Hazrat Rasool Akram Hospital (affiliated to Iran University of Medical Sciences) were selected by convenience consecutive sampling and randomly assigned to experimental and control groups. The experimental group received qust oil, while the control group was given a placebo (liquid paraffin); they were instructed to massage the product topically on their pubic area and perineum daily. The sexual function of both groups was assessed and compared before the intervention and four weeks after the intervention using the Female Sexual Function Index. The mean and standard deviation of the improvement of sexual function post-intervention were 37.66±32.52% and 11.96±11.18% in the experimental and control groups, respectively (p<0.001). In terms of the improvement of components of sexual function, a significant difference was observed between the two groups in the sub-scales of sexual desire [57.05±42.99% vs. 21.25±27.85%, p<0.001], arousal, orgasm, and satisfaction (p<0.001 for all); however, no significant difference was observed in terms of lubrication (p=0.25) and pain during intercourse (p=0.776). In postmenopausal women with sexual dysfunction, massaging the pubic area and perineum with qust oil for at least four weeks significantly improves desire, arousal, orgasm, and sexual satisfaction.

An aged-related structural study of DHPR tetrads in peripheral couplings of human skeletal muscle

2024-10-29T13:08:35+00:00

Among the numerous changes that occur in skeletal muscle during aging, the reduced regeneration potential after an injury is largely due to the impaired ability of satellite cells to proliferate and differentiate. Herein, using the freeze-fracture electron microscopy technique, we analyzed both the incidence and size of dihydropyridine receptors (DHPRs) tetrads (4 particles) in cultured myotubes from a young subject (28 years) after 9 days of differentiation and from an old subject (71 years) after 9 and 12 days of differentiation. Compared to young myotubes, at 9 days of differentiation old myotubes exhibited: i) a lower incidence and a smaller size of DHPR clusters and ii) a lower number of complete tetrads. At 12 days of differentiation values of incidence, size and number of complete tetrads in old myotubes were instead comparable with those of young myotubes at 9 days of differentiation. Collectively, these results indicate that in aged myotubes the synthesis process of the proteins involved in the excitation-contraction coupling mechanism, such as the DHPR, is somehow slowed, supporting previous studies evidence of a decrease in the differentiation potential of myotubes from elderly individuals.

Hand-grip strength in recreational downhill skiers: a comparison to normative reference values

2024-10-17T10:14:33+00:00

Hand-grip strength was evaluated in 757 recreational downhill skiers and compared to 1021 community-dwellers. Findings are reported for age and sex categories consistent with community-dwelling norms. Effect size (Cohen's d) was calculated to estimate the clinical relevance of strength differences between populations. Most male and half of the female age categories of downhill skiers demonstrated higher grip strength of the dominant hand (moderate to large effect size) compared to the reference population. Hand-grip strength in skiers declined with age at a similar rate as in the reference population. Relative grip strength (per kg body mass) was significantly and positively correlated with physical activity (hours/week), and with the number of ski days per year, and negatively with body mass. Thus, hand-grip strength may be related to the type, volume and intensity of exercise regularly performed. These results can help to assess whether the individual hand-grip strength is above or below average with regard to the normal population and the skier population as well and will support advice for training and/or rehabilitation.

Bibliometric study of scientific productivity in intervention programs that improve cognitive impairment in older adults

2024-10-17T10:14:38+00:00

Realizar un análisis bibliométrico integral de la productividad científica relacionada con programas de intervención que buscan mejorar la función cognitiva en adultos mayores, según revista, país y tema de intervención en la base de datos pubmed. Se realizó un estudio bibliométrico durante el periodo 2018 al 2023. La búsqueda bibliográfica se realizó en la base de datos PubMed. Los términos de búsqueda fueron: cognitivecayden, cognitivecayden, exercise program, intervention program, physical exercise,older adult, elderly. Cada artículo identificó: año de publicación, idioma de publicación, país de publicación, nombre de la revista y tema del estudio. Se utilizaron los lineamientos establecidos por PRISMA. Se incluyeron 51 publicaciones científicas, analizadas en 34 revistas. China lidera con 14 estudios (27,5%), seguido de Estados Unidos con 5 artículos (9,8%). Corea y Singapur están en tercer lugar con 4 estudios cada uno (7,8%), seguido de Japón con 3 estudios (5,9%). En cuanto al idioma de publicación, el 96,1% (n=49) fueron publicados en inglés. Solo el 3,9% (n=2) fueron publicados en español. La revista con mayor frecuencia de publicaciones fue Nutrients, con 6 artículos publicados, lo que representa el 11,8% del total y destaca como líder en este campo. Le siguió BMC Geriatrics con 3 artículos publicados, lo que representa el 5,9% del total. Destaca el aumento de las investigaciones sobre intervenciones para el deterioro cognitivo en OA, concentradas principalmente en los años 2020 y 2023. China lidera la producción de estudios seguida de Estados Unidos, Corea y Singapur. Los programas de intervención más estudiados incluyen el ejercicio y el deporte, seguido de la nutrición y el entrenamiento computarizado. Destaca la revista “Nutrients” con mayor número de artículos, seguida de “BMC Geriatrics”.

Evaluation relationship between VDR gene and clinical and inflammatory factors in patients with RRMS

2024-10-09T12:31:47+00:00

Introduction: Adipocyte levels including leptin and FABS-4 levels, adiponectin, obesity, and vitamin D can be related to the occurrence and exacerbation of MS disease.

Objective: This research aimed at determining the relationship between VDR gene changes and clinical and inflammatory factors in patients with relapsing-remitting multiple sclerosis (RRMS).

Method: This case/control study was conducted based on the ethical principles of Helsinki. RRMS disease was confirmed based on history, clinical signs, radiological signs, and neurologist's diagnosis. The research population consisted of healthy people and patients with RRMS referring to Hazrat Rasool Akram Hospital between 2021 and 2023 who met the criteria for entering the research.

Results: FokI polymorphism is associated with a substantial increase in risk, with an odds ratio of 7.28, for those with the FF genotype who have RRMS compared to healthy individuals (OR=7.28: 95% CI; 1.86, 28.41). The presence of FokI polymorphism significantly raises the likelihood of developing RRMS in persons with the FF genotype compared to healthy individuals, with an odds ratio of 28.7. RRMS patients with genotypes did not exhibit a significant increase in risk compared to controls for FokI, ApaI, TaqI, and BsmI polymorphisms.

Conclusion: None of the studied polymorphisms revealed a significant risk in obese patients with different genotypes compared to the obese people. Further research, including more cases, is needed to avoid results that could be inflated by small samples or low frequencies of minor alleles.

High-intensity interval training, but not Spirulina supplementation, changes muscle regeneration signaling proteins in aged rats with obesity and diabetes

2024-10-09T12:31:49+00:00

This study aimed to investigate changes in protein signaling associated with muscle regeneration in aged rats with obesity and diabetes following high-intensity interval training (HIIT) and SP supplementation. Forty male Wistar rats weighting 280-325 g were used in this study. Obesity was induced by eight weeks of a high-fat diet, and diabetes was induced by intraperitoneal injection of 40 mg/kg streptozocin. Rats were randomly divided into control (CON), sham, SP, HIIT, and HIIT+SP groups. HIIT was performed five times per week during the 8-week period. SP dose was 50 mg/kg. Real-time PCR was used to evaluate the expression of myogenin, MyoD1, and Pax7. The decreases in body mass in the HIIT, HIIT+SP and SP groups were significantly higher than those in the sham and CON groups (p=0.0001). The soleus muscle mass increased significantly only in the HIIT and HIIT+SP groups (p<0.01). HIIT+SP improved fasting blood glucose and insulin levels more than HIIT alone and SP (p<0.05), while HIIT increased the expression levels of myogenic factors more than other groups (p=0.0001). In conclusion HIIT alone had a significant impact on myogenic factors, whereas Spirulina had an effect only when combined with HIIT.

Low level laser therapy and rheumatoid arthritis: a systematic review and meta-analysis study

2024-11-28T10:54:25+00:00

This systematic review and meta-analysis aimed to evaluate the efficacy of Low-Level Laser Therapy (LLLT) in the treatment of Rheumatoid Arthritis (RA), focusing on its effects on pain relief, grip strength, and morning stiffness. A comprehensive search was conducted across PubMed, Scopus, and Web of Science, yielding 3,111 articles. After eliminating duplicates and screening titles and abstracts, 94 full-text articles were assessed, and 23 studies met the eligibility criteria for inclusion in the systematic review. Of these, 22 studies were included in the meta-analysis. Data were extracted and analyzed using a random-effects model, with pooled Mean Differences (MD) calculated for the primary outcomes. The meta-analysis revealed that LLLT did not significantly reduce pain compared to placebo (MD = 0.00, 95% CI [-0.09, 0.09], p = 0.97). However, LLLT significantly improved grip strength (MD = -12.38, 95% CI [-17.42, -7.34], p < 0.01) and reduced morning stiffness (MD = -0.84, 95% CI [-1.33, -0.36], p < 0.01), despite substantial heterogeneity in these outcomes. LLLT shows promise in improving grip strength and reducing morning stiffness in RA patients, though it does not significantly impact pain relief. These findings highlight the potential role of LLLT as an adjunctive treatment for RA, with further research needed to optimize treatment protocols and clarify underlying mechanisms.

Prescription criteria and effects of explosive strength training in indoor soccer players: a systematic review

2024-10-17T10:14:35+00:00

Explosive strength is fundamental in the performance of athletes. The objective is to identify the criteria used for the prescription of Explosive Strength Training (EST) and to verify the changes it produces in futsal players. A systematic review of studies analyzing the criteria used for the prescription of explosive strength training was conducted in PubMed/MEDLINE and Scielo, considering the period between 2017 and 2023. The search strategy used the terms: players, Futsal, Futsal training, strength, physical exercise, explosive strength, intervention, experimental study. Data extraction included: year of publication, country, sample, protocol performed (content and activity developed, duration, intensity, frequency, total weeks). A total of six studies were identified. Fifty percent of the studies were developed in Brazil, the others in Italy, Spain and Portugal. Five studies applied a training of 2 sessions per week and one indicated 2-3 sessions. Three studies describe the training sessions (study 1: 15-30 minutes, study 2: 20-25 minutes, study 3: 1 hour). Five studies used 1RM and one study used subjective perception of exertion (PSE). The contents of the interventions were varied, from squats with weights, accelerations and decelerations, leg press, leg extension, plyometrics. The training criteria for explosive strength were: intensity controlled by a 1RM, frequency of 2 to 3 sessions per week, duration of 15 to 30 minutes per session and the training contents were varied. These results suggest positive changes in CMJ, increasing explosive strength from ∼2.0 to 4.6 cm (5.8 to 13.7%). These findings highlight the need to develop a more standardized protocol to optimize the benefits of explosive strength training in this athletic population.

Efficacy of electrical stimulation of the zygomaticus muscle in complete facial paralysis: evidence from facial grading and automated image analysis

2024-11-15T13:48:59+00:00

Surface Functional Electrical Stimulation (FES) is a well-studied intervention for multiple muscular disorders. However, it is still controversially discussed as a complementary therapy for complete facial paralysis. The aim of this intervention is to test a daily home-based ES concept as a pilot study regarding safety, feasibility, and effects on facial functionality and symmetry. In a prospective single-centre pilot study, 10 patients (median 61 years, denervation 130 d) with complete peripheral facial paralysis performed home-based FES of the affected lateral mouth region Stimulation parameters, facial paralysis scores and standardised photographs were assessed in monthly follow-ups. No serious adverse events appeared. Stimulation parameters could be constantly increased indicating effective muscle training while subjectively perceived functionality of the face improved. Thus, smile angle of the paralysed side improved as well. FES is a safe therapy model for application in facial nerve paralysis patients. A feasible stimulation protocol could be applied, which improved the functionality and symmetry of the stimulated facial region. A future controlled, randomised and double-blind follow-up study is needed to investigate these initial results in a further evolved replicable setting.

Deceleration of denervated facial muscle atrophy through functional electrical stimulation: a sonographic quantification in patients with facial nerve paralysis

2024-11-13T14:54:44+00:00

Functional Electrical Stimulation (FES) is an established intervention for a range of muscular and neurological disorders that has already been studied in numerous publications. However, its application to Peripheral Facial nerve Paralysis (PFP) still needs to be sufficiently investigated. As the first approach known to the authors, this study examines the effect of FES on the facial muscles in complete PFP using ultrasonography as a means of observation. In a prospective single-center observational pilot study, ten patients with complete PFP, confirmed by needle-electromyography (EMG), performed FES of the affected lateral mouth region at home twice daily for 20 minutes. The facial muscles’ Cross-Sectional Area (CSA) was regularly assessed using sonographic quantification. While the CSA of most non-stimulated muscles decreased considerably during ongoing paralysis, a significant CSA increase of the Zygomaticus Muscle (ZYG), which was regularly subjected to FES, could be demonstrated. FES can halt the atrophy of denervated ZYG and potentially other facial muscles. Further investigations with a more significant patient collective are recommended. From now on, FES could be established as an additive method in the non-invasive treatment of PFP.

Lower limb acute onset muscle pain: what do we have to look for? A case of isolated rupture of the rectus femoris

2024-10-18T12:27:45+00:00

Acute muscle pain is muscle soreness that occurs during or within 24 hours of strenuous activity. Possible causes of acute muscle pain include localized muscle trauma, muscle tear, contusion with acute hemorrhage, or acute compartment syndrome. Isolated ruptures of the rectus femoris muscle are rare clinical conditions that result from excessive muscle strain following an abrupt contraction, incorrect movement, or sudden snap that exceeds the physiological limit of strain that the muscle can withstand. To date, there are few published reports evaluating the results of non-invasive treatment of such injuries. Herein, we report an unusual case of isolated distal rectus femoris tear in a 46-year-old female patient with no risk factors, who initially presented with extensor muscle weakness and pain and was treated conservatively with functional rest, physiotherapy, and cryotherapy.

Longitudinal analysis of lower limb muscle activity and ankle tendon biosignals using structural equation modeling

2024-09-23T12:03:36+00:00

We collected biosignals from 63 participants and extracted the features corresponding to each level of exerted muscle force. Data were classified into typical and atypical patterns. Data analysis was performed using the Linear Latent Curve Model (LCM) and the Conditional Linear LCM. The typical patterns demonstrated a high degree of fit. Factors, such as ankle circumference and muscle mass, influenced the model intercept. A larger ankle circumference indicated attenuation of signal transmission from the tendon to the skin surface, leading to lower biosignal values. These results indicate that biosignals from the tendons near the ankle can be captured using piezoelectric film sensors. There are studies that define biosignals originating from tendons as mechanotendography. It has been demonstrated that the relationship between biosignals originating from tendons and the exerted muscle force can be explained linearly. Insights from this study may facilitate individualized approaches in the fields of motion control and rehabilitation. Physiological studies to elucidate the mechanisms underlying biosignal generation are necessary.

Vertebral bone quality score as a new tool for osteoporosis diagnosis in patients undergoing lumbosacral fusion surgery: a single center cohort study

2024-09-16T13:02:07+00:00

Osteoporosis, a common bone disorder, increases fracture and spinal surgery complications risk. This study evaluates the potential of the Magnetic Resonance Imaging (MRI)-based Vertebral Bone Quality (VBQ) score as an alternative for assessing bone density in lumbosacral fusion surgery patients. In a prospective cohort study from April 2021 to November 2022, 134 patients with lumbar degenerative diseases underwent lumbar Dual-Energy X-ray Absorptiometry (DXA) and lumbosacral non-contrast T1-weighted MRI. VBQ scores were calculated and analyzed using IBM SPSS Statistics and MedCalc software. Osteopenia/Osteoporosis patients exhibited significantly higher VBQ scores than normal bone mineral density patients (3.37 ± 0.51 vs. 2.99 ± 0.44, P<0.001). VBQ correlated significantly with lumbar DXA T scores (r value= -0.415, p<0.001). Receiver Operating Characteristic (ROC) analysis showed VBQ AUC values of 0.730 (CI 95% 0.647-0.803, P<0.001) and 0.839 (CI 95% 0.765-0.897, P<0.001) for Osteopenia/Osteoporosis and osteoporosis diagnosis, respectively. The study suggests MRI-derived VBQ scores may benefit pre-lumbosacral fusion surgery bone density assessment, potentially improving patient care and aiding osteoporosis detection in spinal surgery candidates.

A randomized trial on transphyseal vs. physeal-sparing reconstruction in skeletally immature patients: functional outcomes and safety considerations

2024-12-06T15:46:26+00:00

Reconstruction of the Anterior Cruciate Ligament (ACL) in Skeletally Immature Patients (SIP) poses challenges due to anatomical and developmental factors. This randomized controlled trial evaluated the Functional Recovery (FR) of pediatric patients undergoing ACL Reconstruction (ACLR), comparing Transphyseal Reconstruction (TPR) and physeal-sparing reconstruction (PSR). Forty-three young athletes (mean age 14.1 ± 2.3 years), including 29 boys and 14 girls, were randomized to TPR (n=23) or PSR (n=20). FR was assessed by using the Pediatric International Knee Documentation Committee (Pedi-IKDC) questionnaire at baseline, 8 months, and 12 months post-surgery. At the 12-month follow-up, the TPR group demonstrated a significantly greater improvement in Pedi-IKDC scores, with a 66.95% increase compared to 56.73% in the PSR group, reflecting notable differences in knee function between the groups at both 8 and 12 months (p < 0.001). Additionally, 80% of participants in the TPR group returned to sports, with 56% resuming limited activities, while the PSR group exhibited a slower recovery trajectory. These preliminary findings indicate that TPR provides superior FR and a faster return to sports compared to PSR, underscoring the importance of tailored rehabilitation protocols and long-term follow-up to optimize outcomes in SIP.