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Statins have been used in clinical practice for more than 40 years to treat and prevent atherosclerosis and its complications. The results of observational studies indicate that, despite a large evidence base, statins in Russia are still prescribed in low doses, for a maximum of 6 months, leading to a low percentage of achieving the target levels of low-density lipoprotein cholesterol and, thus, to a high residual risk of cardiovascular complications. This paper presents a literature review and analysis of the basic principles of statin therapy in primary prevention, intensive lipid-lowering therapy in patients with very high cardiovascular risk, as well as key safety updates on cholesterol decrease for various organs and systems (liver, kidneys, muscles, nervous system), and carbohydrate metabolism. The article also provides a brief overview of new international guidelines to optimize the diagnosis and treatment of dyslipidemias, which can be useful in the day-to-day practice of an internal medicine specialist.

Introduction: Idiopathic inflammatory myopathies (known as 'myositis') are a group of rare sporadic inflammatory muscle disorders that significantly impact function and quality of life. There are no standardised approaches in the use of assistive technologies in myositis. This study was initiated to investigate current use and perceived value of assistive technology (AT) by people with myositis. Methods: A cross‐sectional online questionnaire (Qualtrics) was designed to capture information regarding AT use and perceived value and demographic information from people with myositis across Australia. The questionnaire was distributed via the Myositis Association of Australia and specialist myositis clinics. Participants were asked to identify which AT items they owned and how frequently the item was used and to rate the 'usefulness' of those items. Information was also collected on participants' engagement with health professionals regarding assistive technologies. Consumer and community involvement: Consumer involvement via the Myositis Research Consumer Panel identified a knowledge gap regarding AT. The questionnaire was designed with consumer input and review. Results: One hundred two people (102) with myositis completed the questionnaire. One hundred (100) participants owned at least one AT device, with a median of 12.5 items and a maximum of 65 items. The most used devices were associated with toileting, personal care and mobility. Participants rated AT devices relating to environmental support, sleeping, seating and body support as most useful. There was a positive correlation between disease duration and number of devices used (r2 = 0.248, p = 0.012). Majority of participants (75.5%) were interested in talking to health professionals about AT; however, only 50% had done so. Conclusion: AT device usage is high among people with myositis, with most items deemed to be useful. Greater occupational therapy input into recommendations and potential funding options may improve knowledge and access to AT. [ABSTRACT FROM AUTHOR]

The article presents a case study of an 81-year-old woman successfully treated with reduced oral steroid dosage for statin-induced anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR) immune-mediated necrotizing myopathy. Topics discussed include the management strategies, clinical outcomes, and therapeutic adjustments in elderly patients experiencing rare immune-mediated muscle disorders associated with statin use.

BackgroundGenetic tests for variants in MYOT (P2; rs1138656462), FLNC (P3a; rs1139799323 or P3b; rs1142918816) and MYOZ3 (P4; rs1142544043) genes are offered commercially to diagnose myofibrillar myopathy (MFM) and type 2 polysaccharide storage myopathy (PSSM2) in Quarter Horses (QH).ObjectivesTo determine if PSSM2-QH has histopathological features of MFM. To compare genotype and allele frequencies of variants P2, P3, P4 between control-QH and PSSM2-QH diagnosed by histopathology.Study designRetrospective cross-sectional.MethodsThe study includes a total of 229 healthy control-QH, 163 PSSM2-QH GYS1 mutation negative. Desmin stains of gluteal/semimembranosus muscle were evaluated. Purported disease alleles P2, P3a, P3b, P4 were genotyped by pyrosequencing. Genotype, allele frequency and total number of variant alleles or loci were compared between phenotypes using additive/genotypic and dominant models and quantitative effects evaluated by multivariable logistic regression.ResultsHistopathological features of MFM were absent in all QH. A P variant allele at any locus was not associated (P > .05) with a histopathological diagnosis of PSSM2 and one or more P variants were common in control-QH (57%) and PSSM2-QH (61%). Allele frequencies (control/PSSM2) were: 0.24/0.21 (P2), 0.07/0.12 (P3a), 0.07/0.11 (P3b) and 0.06/0.08 (P4). P3a and P3b loci were not independent (r2  = 0.894); and not associated with PSSM2 histopathology comparing the haplotype of both P3a and P3b variants to other haplotypes. A receiver operator curve did not accurately predict the PSSM2 phenotype (AUC = 0.67, 95% CI 0.62-0.72), and there was no difference in the total number of variant loci or total variant allele count between control-QH and PSSM2-QH.Main limitationsP3a and P3b were not in complete linkage disequilibrium.ConclusionsThe P2, P3 and P4 variants in genes associated with human MFM were not associated with PSSM2 in 392 QH. Their use would improperly diagnose PSSM2/MFM in 57% of healthy QH and fail to diagnose PSSM2 in 40% of QH with histopathological evidence of PSSM2.

Sporadic inclusion body myositis (sIBM) is a subgroup of idiopathic inflammatory myopathies characterised by progressive muscle weakness and skeletal muscle inflammation. Quantitative data on the myofibre morphology in sIBM remains scarce. Further, no previous study has examined fibre type association of satellite cells (SC), myonuclei number, macrophages, capillaries, and myonuclear domain (MD) in sIBM patients. Muscle biopsies from sIBM patients (n = 18) obtained previously (NCT02317094) were included in the analysis for fibre type-specific myofibre cross-sectional area (mCSA), SCs, myonuclei and macrophages, myonuclear domain, and capillarisation. mCSA (p < 0.001), peripheral myonuclei (p < 0.001) and MD (p = 0.005) were higher in association with type 1 (slow-twitch) than type 2 (fast-twitch) fibres. Conversely, quiescent SCs (p < 0.001), centrally placed myonuclei (p = 0.03), M1 macrophages (p < 0.002), M2 macrophages (p = 0.013) and capillaries (p < 0.001) were higher at type 2 fibres compared to type 1 fibres. In contrast, proliferating (Pax7+/Ki67+) SCs (p = 0.68) were similarly associated with each fibre type. Type 2 myofibres of late-phase sIBM patients showed marked signs of muscle atrophy (i.e. reduced mCSA) accompanied by higher numbers of associated quiescent SCs, centrally placed myonuclei, macrophages and capillaries compared to type 1 fibres. In contrast, type 1 fibres were suffering from pathological enlargement with larger MDs as well as fewer nuclei and capillaries per area when compared with type 2 fibres. More research is needed to examine to which extent different therapeutic interventions including targeted exercise might alleviate these fibre type-specific characteristics and countermeasure their consequences in impaired functional performance. [ABSTRACT FROM AUTHOR]

Background and purpose: Myopathies are associated with classic signs and symptoms, but also with possible life‐threatening complications that may require assistance in an emergency setting. This phenomenon is understudied in the literature. We aimed to assess the presentation, management, and outcomes of clinical manifestations potentially related to a muscle disorder requiring referral to the adult emergency department (ED) and hospitalization. Methods: Anonymized patient data retrieved using the International Classification of Diseases, Ninth Revision codes related to muscle disorders over 4 years were retrospectively analyzed. Medical reports were evaluated to extract demographic and clinical variables, along with outcomes. Two groups were defined based on the presence (known diagnosis [KD] group) or absence (unknown diagnosis [UD] group) of a diagnosed muscle disorder at arrival. Results: A total of 244 patients were included, 51% of whom were affected by a known myopathy, predominantly limb‐girdle muscular dystrophies and myotonic dystrophies. The main reasons for ED visits in the KD group were respiratory issues, worsening of muscle weakness, and gastrointestinal problems. Heart complications were less prevalent. In the UD group, 27 patients received a new diagnosis of a specific primary muscle disorder after the ED access, mostly an inflammatory myopathy. Death during hospitalization was recorded in 26 patients, with a higher rate in the KD group and in patients affected by mitochondrial and inflammatory myopathies. Sepsis and dyspnea were associated with increased death risk. Conclusions: Respiratory complications are the most common reason for myopathic patients accessing the ED, followed by gastrointestinal issues. Infections are severe threats and, once hospitalized, these patients have relatively high mortality. [ABSTRACT FROM AUTHOR]

Introduction: Rhabdomyolysis is an entity that can present as a low-incidence postoperative complication characterized by myonecrosis with release of toxins into the bloodstream. There are predisposing factors and the majority of post-surgical rhabdomyolysis have a multifactorial etiology. It generally presents with acute kidney injury and the need for dialysis, which increases the days of hospital stay and mortality. Purpose: The purpose of this article is to report on the clinical case of a patient diagnosed with rhabdomyolysis after a surgical intervention, in addition to providing relevant information on early diagnosis and timely treatment. Case presentation: It is about a 69-year-old male patient who undergoes surgery for shoulder arthroscopy, repair of the rotator cuff due to previous and superior injury, plus biceps tenotomy with subdeltoideal acromioclavicular decompression. During the postoperative period, he presents asthenia, nausea, and 12 hours of anuria. There is evidence of elevation in azotemia and muscle enzymes (Creatine phosphokinase (CPK): 10,519U/L), and the diagnosis of rhabdomyolysis is established. He remains hospitalized with an infusion of crystalloids and furosemide, in addition to steroids (methylprednisolone), N-acetylcysteine, and bicarbonate, without improvement, requiring hemodialysis. Subsequently, he evolves favorably with a gradual decrease in azotemia and muscle enzymes, and is discharged after 14 days of hospitalization. Discussion and conclusion: Post-surgical rhabdomyolysis is frequently a multifactorial pathology, influenced by predisposing elements directly related to the patient, the surgical process, and drugs. A rare case of multifactorial postsurgical RML is presented in an elderly male patient, considered as risk factors, who required RRT and therefore, it increased hospitalization´s days. [ABSTRACT FROM AUTHOR]

ABSTRACT: Heat stress can greatly challenge growth and meat quality of broiler chickens where research is looking for sustainable ingredients, such as microalgae, that could also alleviate its negative impacts. Thus, in the present study, 576 1-D-old chicks (Ross 308) were housed until commercial slaughtering (42 D) in 36 pens in 2 rooms of a poultry house, according to a full factorial design encompassing 2 room temperatures (standard vs. high), 2 sexes (females vs. males), and 3 dietary treatments, that is, diet C0 (control diet), diet C3, and diet C6 containing 0, 3, and 6%, respectively, of C. vulgaris meal replacing the same quantities of soybean meal. The highest inclusion level of C. vulgaris decreased feed intake (P < 0.001) and body weight (P < 0.0001) compared to the control diet; it increased yellow and red indexes (P < 0.0001) of the breast muscle, besides the proportion of n3 polyunsaturated fatty acids (PUFA) (P = 0.028). Heat stress decreased feed intake (P = 0.001), breast (P = 0.001) and p. major yields (P = 0.036), and increased meat pH (P= 0.008) and cooking losses (P < 0.001), umami (P = 0.021) and brothy flavor (P < 0.001), and the proportion of n3 PUFA rates (P = 0.027), while reducing the contents of several amino acids in the breast meat (P ≤ 0.05). Compared to females, males displayed higher feed intake and growth, and more favorable feed conversion (P < 0.001). Carcass and p. major yields were greater in females (P < 0.001) which also showed a higher occurrence of spaghetti meat compared to males (P < 0.001). In conclusion, C. vulgaris can be used to replace until 3% of soybean meal in diets for broiler chickens without negative implications, while positively affecting breast meat color according to consumers’ preferences. However, the microalgae inclusion did not mitigate the negative effects of a chronic heat stress on growth performance nor reduced the occurrence of any myopathies.

OBJECTIVE: Describe the clinical course and diagnostic and genetic findings in a cat with X-linked myotubular myopathy. CASE SUMMARY: A 7-month-old male Maine coon was evaluated for progressively worsening gait abnormalities and generalized weakness. Neurolocalization was to the neuromuscular system. Genetic testing for spinal muscular atrophy (LIX1) was negative. Given the progressive nature and suspected poor long-term prognosis, the owners elected euthanasia. Histopathology of skeletal muscle obtained post-mortem disclosed numerous rounded atrophic or hypotrophic fibers with internal nuclei or central basophilic staining. Using oxidative reactions mediated by cytochrome C oxidase and succinic dehydrogenase, scattered myofibers were observed to have central dark staining structures and a ring-like appearance. Given the cats age and clinical history, a congenital myopathy was considered most likely, with the central nuclei and ring-like changes consistent with either centronuclear or myotubular myopathy. Whole genome sequencing identified an underlying missense variant in myotubularin 1 (MTM1), a known candidate gene for X-linked myotubular myopathy. NEW OR UNIQUE INFORMATION PROVIDED: This case is the first report of X-linked myotubular myopathy in a cat with an MTM1 missense mutation. Maine coon cat breeders may consider screening for this variant to prevent production of affected cats and to eradicate the variant from the breeding population.

In this report, we describe a novel genetic basis for congenital dyserythropoietic anemia and polymyopathy in Labrador Retriever littermates characterized by incidental detection of marked microcytosis, inappropriate metarubricytosis, pelvic limb weakness and muscle atrophy. A similar syndrome has been described in English Springer Spaniel littermates with an early onset of anemia, megaesophagus, generalized muscle atrophy and cardiomyopathy. Muscle histopathology in both breeds showed distinctive pathological changes consistent with congenital polymyopathy. Using whole genome sequencing and mapping to the CanFam4 (Canis lupus familiaris reference assembly 4), a nonsense variant in the EHBP1L1 gene was identified in a homozygous form in the Labrador Retriever littermates. The mutation produces a premature stop codon that deletes approximately 90% of the protein. This variant was not present in the English Springer Spaniels. Currently, EHPB1L1 is described as critical to actin cytoskeletal organization and apical-directed transport in polarized epithelial cells, and through connections with Rab8 and a BIN1-dynamin complex generates membrane vesicles in the endocytic recycling compartment. Furthermore, EHBP1L1 knockout mice die early and develop severe anemia. The connection of EHBP1L1 to BIN1 and DMN2 functions is particularly interesting due to BIN1 and DMN2 mutations being causative in forms of centronuclear myopathy. This report, along with an independent study conducted by another group, are the first reports of an association of EHBP1L1 mutations with congenital dyserythropoietic anemia and polymyopathy.

Hypercholesterolemia is a condition characterized by total cholesterol levels exceeding 200 mg/dl. A breakthrough in its treatment was the introduction of the first representative of the status - lovastatin. The mechanism of their action relies on inhibition of the activity of 3-hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) reductase, the enzyme responsible for converting HMG-CoA to mevalonic acid, the main substrate in the synthesis of endogenous cholesterol. The progress of experimental and clinical studies on action statins indicates a number of other biological properties of this group of compounds, and thus their pharmacological potential. The possibility of their use in the pharmacotherapy of cardiovascular diseases, hyperandrogenism in women with polycystic ovary syndrome (PCOS), osteoporosis, type 2 diabetes, neurodegenerative diseases, or cancer has been so far highlighted. The aim of this paper was to systematize the knowledge of statin drugs in terms of the progress of studies on their biological activity indicating the possibility of their potential use in the treatment of diseases other than those related to the cardiovascular system, along with verification of their safety profile and demonstrated adverse effects (DN) as a result of their intake. The literature review was conducted by a screening of the following scientific databases - PubMed and Google Scholar (the analysis lasted from March 2022 to February 2023). The keywords used for searching were disease-related and DN-related. Statins have shown potential to alleviate symptoms of androgen excess in women suffering from polycystic ovary syndrome (PCOS). Studies relating to their effect on the treatment of Alzheimer's disease and dementia indicate a reduction in progressive neurodegenerative changes, and thus suggest their potential use in the prevention and treatment of comorbid cardiovascular disease. Moreover, statins tend to reduce morbidity, increase survival, and alleviate the progression of cancer. The results of studies of the effects of these drugs on the possibility or development of Parkinson's disease, osteoporosis and the etiology of muscle symptoms appear to be inconsistent in the relationship of their benefits to DN. Unfortunately, it seems that they have also led to disturbances in carbohydrate metabolism and increased the risk of type II diabetes mellitus (NODM). Studies on the effect of the nocebo effect during statin therapy on the frequency with which patients experience DN have confirmed the presence of this effect. Analysis of the collected studies shows considerable potential for expanding the current therapeutic indications of the drugs in question. However, further randomized controlled trials are required to determine the precise effective dose, duration of therapy for a specific statin.

This retrospective study aimed to perform the first external validation of the ACR/EULAR classification criteria for inflammatory myopathy (IIM) in a Mexican dynamic cohort where the patients were evaluated with clinical and laboratory values. As secondary objectives, we presented the clinical characteristics of the patients and included antibodies other than anti Jo1 to evaluate their impact on our population. This study included 70 patients with IIM and 70 patients with differential diagnoses of IIM, according to the absolute score of the classification criteria. We obtained sensitivity and specificity in the modality without biopsy, and as an exploratory analysis, we added other antibodies from the myositis extended panel. We analyzed the area under the curve (AUC) of three models: score without antibodies, with anti Jo1 and with any antibody. The ACR/EULAR criteria showed increased specificity and at least similar sensitivity to that of the original cohort (85% sensitivity and 92% specificity), with a cohort point of >55%. When we classified patients into definite, probable, possible, and no IIM categories, by adding the extended myopathy panel, 6 of the 10 patients initially classified as "no IIM" changed their classification to "Probable IIM" and 4 to "Definite IIM"; of the 16 patients classified as "probable IIM," 15 changed their classification to "Definite IIM." Considering the limitations of this study, we concluded that the 2017 EULAR/ACR criteria for IIM classification are sensitive and specific for classifying patients with IIM in the Mexican population. Additionally, the addition of antibodies other than anti-Jo1 may improve performance in certain populations. [ABSTRACT FROM AUTHOR]

Background and purpose: Elevation of serum creatine kinase (CK) or hyperCKemia is considered a biological marker of myopathies. However, selective elevation of serum aldolase with normal CK has been reported in a few myopathies, including dermatomyositis, immune‐mediated myopathy with perimysial pathology and fasciitis with associated myopathy. The aim was to investigate the disease spectrum of myopathies with isolated aldolase elevation. Methods: Medical records were reviewed to identify patients >18 years old seen between December 1994 and June 2020 who had pathologically proven myopathies with elevated aldolase and normal CK level. Patients with alternative causes of aldolase elevation were excluded. Results: Thirty‐four patients with various types of myopathies were identified. Myopathies were treatable in 27 patients. The three most common etiologies were dermatomyositis (n = 8), overlap myositis (n = 4) and nonspecific myopathy (n = 4). Perimysial pathology comprising inflammation, fragmentation, vasculitis, calcified perimysial vessels or extracellular amyloid deposition was found in 17/34 patients (50%). Eight dermatomyositis patients with selective elevated aldolase were compared to 24 sex‐ and age‐matched patients with dermatomyositis and hyperCKemia. Dermatomyositis patients with normal CK significantly (p < 0.05) had less frequent cutaneous involvement (50.0% vs. 100.0%) and fibrillation potentials (50.0% vs. 90.5%) but higher median erythrocyte sedimentation rate (33.5 vs. 13.5 mm/h) and more common perifascicular mitochondrial pathology (37.5% vs. 4.2%). Conclusion: Isolated aldolase elevation can be found in a greater variety of myopathies than initially thought and most were treatable. Dermatomyositis is the most common myopathy with selective elevation of aldolase in our cohort, which features some unique characteristics compared to dermatomyositis with hyperCKemia. [ABSTRACT FROM AUTHOR]

BackgroundCommercial genetic tests for type 2 polysaccharide storage myopathy (PSSM2) and myofibrillar myopathy (MFM) have not been validated by peer-review, and formal regulation of veterinary genetic testing is lacking.ObjectivesTo compare genotype and allele frequencies of commercial test variants (P variants) in MYOT (P2; rs1138656462), FLNC (P3a; rs1139799323), FLNC (P3b; rs1142918816) and MYOZ3 (P4; rs1142544043) between Warmblood (WB) and Arabian (AR) horses diagnosed with PSSM2/MFM by muscle histopathology, and phenotyped breed-matched controls. To quantify variant frequency in public repositories of ancient and modern horse breeds.Study designCross sectional using archived clinical material and publicly available data.MethodsWe studied 54 control-WB, 68 PSSM2/MFM-WB, 30 control-AR, 30 PSSM2/MFM-AR and 205 public genotypes. Variants were genotyped by pyrosequencing archived DNA. Genotype and allele frequency, and number of variant alleles or loci were compared within breed between controls, PSSM2/MFM combined and MFM or PSSM2 horses considered separately using additive/genotypic and dominant models (Fisher's exact tests). Variant frequencies in modern, early domestic and Przewalski horses were determined from a public data repository.ResultsThere was no significant association between any P locus and a histopathological diagnosis of PSSM2/MFM, and no difference between control and myopathic horses in total loci with alternative alleles, or total alternate alleles when PSSM2/MFM was considered combined or separately as PSSM2 or MFM. For all tests, sensitivity was

Muscle tissue is one of the most dynamic and plastic tissues of the mammalian body and covers different roles, such as force generation and metabolic control. Muscular proteomics provides an important opportunity to reveal the molecular mechanisms behind muscle pathophysiology. To ensure successful proteomic analysis, it is necessary to have an efficient and reproducible protein extraction method. This study aimed to evaluate the efficacy of two different extraction protocols of muscle samples for two-dimensional gel electrophoresis. In particular, mouse muscle proteins were extracted by an SDS-based buffer (Method A) and by a UREA/CHAPS/DTE/TRIS solution (Method B). The efficacies of the methods were assessed by performing an image analysis of the 2DE gels and by statistical and multivariate analyses. The 2DE gels in both preparations showed good resolution and good spot overlapping. Methods A and B produced 2DE gels with different means of total spots, higher for B. Image analysis showed different patterns of protein abundance between the protocols. The results showed that the two methods extract and solubilize proteins with different chemical–physical characteristics and different cellular localizations. These results attest the efficacy and reproducibility of both protein extraction methods, which can be parallelly applied for comprehensive proteomic profiling of muscle tissue.

Objective: Pompe disease (PD) is caused by deficiency of the lysosomal enzyme acid α-glucosidase (GAA), leading to progressive glycogen accumulation and severe myopathy with progressive muscle weakness. In the Infantile-Onset PD (IOPD), death generally occurs

BackgroundMyofibrillar myopathy (MFM) of unknown aetiology has recently been identified in Warmblood (WB) horses. In humans, 16 genes have been implicated in various MFM-like disorders.ObjectivesTo identify variants in 16 MFM candidate genes and compare allele frequencies of all variants between MFM WB and non-MFM WB and coding variants with moderate or severe predicted effects in MFM WB with publicly available data of other breeds. To compare differential gene expression and muscle fibre contractile force between MFM and non-MFM WB.Study designCase-control.Animals8 MFM WB, 8 non-MFM WB, 33 other WB, 32 Thoroughbreds, 80 Quarter Horses and 77 horses of other breeds in public databases.MethodsVariants were called within transcripts of 16 candidate genes using gluteal muscle mRNA sequences aligned to EquCab3.0 and allele frequencies compared by Fisher's exact test among MFM WB, non-MFM WB and public sequences across breeds. Candidate gene differential expression was determined between MFM and non-MFM WB by fitting a negative binomial generalised log-linear model per gene (false discovery rate

BackgroundGNE myopathy is a rare, autosomal recessive, muscle disease caused by mutations in GNE and is characterized by rimmed vacuoles on muscle biopsy and progressive distal to proximal muscle weakness.ObjectiveInvestigate the clinical presentation and progression of GNE myopathy.MethodsThe GNE Myopathy Disease Monitoring Program was an international, prospective, observational study in subjects with GNE myopathy. Muscle strength was assessed with hand-held dynamometry (HHD), with upper extremity (UE) and lower extremity (LE) composite scores reflecting upper and lower extremity muscle groups, respectively. The GNE myopathy-Functional Activity Scale (GNEM-FAS) was used to further assess impairment in mobility, upper extremity function, and self-care.ResultsEighty-seven of 101 enrolled subjects completed the trial until study closure by the sponsor; 60 completed 36 months. Mean (SD) HHD UE composite score decreased from 34.3 kg (32.0) at baseline to 29.4 kg (32.6) kg at month 36 (LS mean change [95%CI]: -3.8 kg [-5.9, -1.7]; P = 0.0005). Mean (SD) HHD LE composite score decreased from 32.0 kg (34.1) at baseline to 25.5 kg (31.2) at month 36 (LS mean change [95%CI]: -4.9 [-7.7, -2.2]; P = 0.0005). GNEM-FAS scores were more severe at baseline in subjects who walked

This study aimed to evaluate the effect of in ovo injection of folic acid (FA) and sulfur amino acids (SAAs) on the mitotic activity of myocytes, performance, relative organ weight, hematological values, and characteristics of broiler chicken carcasses. A total of 1200 fertile eggs from 42-week-old Ross AP© breeders were inoculated in the albumen on the first day of incubation in a completely randomized design with one of the treatments: C—intact eggs; SS: inoculation with 0.5 mL of saline solution; FA: 0.150 mg of FA; SAA: 5.90 mg of L-methionine and 3.40 mg of L-cysteine; or FA/SAA: FA + SAA. The inoculation of SAA did not influence (p > 0.05) the post-hatching characteristics of the chickens. FA inoculation increased (p < 0.05) the expression of the PAX7 and MYF genes in the pectoralis muscle of hatched chicks and reduced (p < 0.05) feed conversion at 42 days of age. The combination of SAA + FA increased (p < 0.05) the depth of the ileal crypt on the 1st day after hatching and the relative weight of the spleen and thymus on the 21st day of life. In conclusion, the inoculation of FA on the 1st day of incubation increases gene expression and improves the performance of broilers. [ABSTRACT FROM AUTHOR]

Cardiovascular involvement in idiopathic inflammatory myopathies (IIM) is an understudied area which is gaining increasing recognition in recent times. Recent advances in imaging modalities and biomarkers have allowed the detection of subclinical cardiovascular manifestations in IIM. However, despite the availability of these tools, the diagnostic challenges and underestimated prevalence of cardiovascular involvement in these patients remain significant. Notably, cardiovascular involvement remains one of the leading causes of mortality in patients with IIM. In this narrative literature review, we outline the prevalence and characteristics of cardiovascular involvement in IIM. Additionally, we explore investigational modalities for early detection of cardiovascular involvement, as well as newer approaches in screening to facilitate timely management. Key points • Cardiac involvement in IIM in majority cases is subclinical and a major cause of mortality. • Cardiac magnetic resonance imaging is sensitive for detection of subclinical cardiac involvement. [ABSTRACT FROM AUTHOR]

The purpose of this study was to report the findings of clinical and genetic evaluation of a 3-month old male Boykin spaniel (the proband) that presented with progressive weakness. The puppy underwent a physical and neurological examination, serum biochemistry and complete blood cell count, electrophysiological testing, muscle biopsy and whole genome sequencing. Clinical evaluation revealed generalized neuromuscular weakness with tetraparesis and difficulty holding the head up and a dropped jaw. There was diffuse spontaneous activity on electromyography, most severe in the cervical musculature. Nerve conduction studies were normal, the findings were interpreted as consistent with a myopathy. Skeletal muscle was grossly abnormal on biopsy and there were necklace fibers and abnormal triad structure localization on histopathology, consistent with myotubular myopathy. Whole genome sequencing revealed a premature stop codon in exon 13 of MTM1 (ChrX: 118,903,496 C > T, c.1467C>T, p.Arg512X). The puppy was humanely euthanized at 5 months of age. The puppys dam was heterozygous for the variant, and 3 male puppies from a subsequent litter all of which died by 2 weeks of age were hemizygous for the variant. This naturally occurring mutation in Boykin spaniels causes a severe form of X-linked myotubular myopathy, comparable to the human counterpart.

Myositis is a rare muscle disorder resulting from the immune system’s attack on the muscle cells, leading to muscle weaknesses. A precise and early diagnosis of the illness is crucial for effective treatment. Differentiating among various types of Myositis remains a significant challenge, leading to false diagnoses and delayed treatment for IBM patients, which can cause muscular atrophy. This paper introduces a new Hybrid computer-aided model that can effectively differentiate among various categories: PolyMyositis (PM), DermatoMyositis (DM), and Inclusion Body Myositis (IBM). A novel method for detecting and classifying inflammatory myopathies from ultrasound images based on a modified lightweight YOLOv5 Architecture is proposed named YOLO-CSE. The proposed model utilizes the Convolutional Block Attention Module (CBAM) to focus on the significant minor extracted features in the image. Moreover, we reuse the extracted features by incorporating the Spatial Pyramid Pooling-Fast Plus (SPPF $^{+}$ ), strengthening the feature extraction capability while providing maximum information flow in the network. Furthermore, the Exponential Linear Unit (ELU) is integrated to activate the function for more accurate results by naming this layer (SPPF $^{+}$ ELU). The performance is tested on large benchmark datasets consisting of 3214 muscle ultrasound images for 80 patients, divided into 14 DermatoMyositis (DM), 14 PolyMyositis (PM), 19 Inclusion Body Myositis (IBM) and 33 Normal patients. Extensive and detailed analysis has been tested on several stages to clarify the role of the CBAM and SPPF Plus modules in our model. Additionally, we analyze the model’s performance through four different suggested classification strategies (binary and multiclass classification). Data Augmentation was proposed to suppress the dataset’s imbalance and boost the model’s performance. Mosaic data augmentation enhanced the dataset by randomly cropping, arranging and scaling images. Various techniques of augmentation were employed, including flipping, cropping, rotating, Contrast Limited Adaptive Histogram Equalization (CLAHE) and Median Blur filters. Experiments have been conducted to demonstrate the effectiveness of the proposed system. The proposed YOLO-CSE achieved highly acceptable accuracy, precision, recall, and F1-Scores for the different strategies. The suggested model achieved an average accuracy for binary and multiclass classification above 98% and average precision above 96%. The results demonstrate that the proposed model accurately detects and classifies inflammatory myopathies.

Diffusion tensor imaging (DTI) may allow the determination of new threshold values, based on water anisotropy, to differentiate between healthy muscle and various pathological processes. Additionally, it may quantify treatment monitoring or training effects. Most current studies have evaluated the potential of DTI of skeletal muscle to assess sports-related injuries or therapy, and training monitoring. Another critical area of application of this technique is the characterization and monitoring of primary and secondary myopathies. In this manuscript, we review the application of DTI in the evaluation of skeletal muscle in these and other novel clinical scenarios, with emphasis on the use of quantitative imaging–derived biomarkers. Finally, the main limitations of the introduction of DTI in the clinical setting and potential areas of future use are discussed. [ABSTRACT FROM AUTHOR]

Background and purpose: Measuring health‐related quality of life (QOL) is vital for understanding the disease impact, but the complex relationship between clinical parameters and QOL remains unclear. The objective was to determine the demographic and clinical factors that influence the QOL in adults with inherited and acquired myopathies. Methods: The study was of cross‐sectional design. Detailed demographic and clinical details were collected. Patients answered Neuro‐QOL and Patient‐Reported Outcomes Measurement Information System short‐form questionnaires. Results: Data was collected from 100 consecutive in‐person patient visits. Mean age of the cohort was 49.5 ± 20.1 (18–85) years, and the majority were male (53, 53%). Bivariate analysis between the various demographic and clinical features with the QOL scales revealed single simple question (SSQ), handgrip strength, Medical Research Council (MRC) sum score, female gender, and age to be nonuniformly associated with the QOL scales. There was no difference between inherited and acquired myopathies for any of the QOL scores, except for the poorer lower limb function domain in inherited myopathies (36.7 ± 7.3 vs. 40.9 ± 11.2, p = 0.049). Linear regression models revealed lower SSQ, lower handgrip strength, and lower MRC sum score to independently predict poor QOL. Conclusions: Handgrip strength and SSQ serve as novel predictors of QOL in myopathies. Handgrip strength has a significant impact on physical, mental, and social domains and deserves special attention with respect to rehabilitation. SSQ correlates well with QOL and can be employed as a quick and global assessment of a patient's well‐being. Differences in QOL scores between patients with inherited and acquired myopathies were minimal. [ABSTRACT FROM AUTHOR]

Many neuromuscular disorders can have a differential impact on a specific myofibre type, forming the central premise of this review. The many different skeletal muscles in mammals contain a spectrum of slow‐ to fast‐twitch myofibres with varying levels of protein isoforms that determine their distinctive contractile, metabolic, and other properties. The variations in functional properties across the range of classic 'slow' to 'fast' myofibres are outlined, combined with exemplars of the predominantly slow‐twitch soleus and fast‐twitch extensor digitorum longus muscles, species comparisons, and techniques used to study these properties. Other intrinsic and extrinsic differences are discussed in the context of slow and fast myofibres. These include inherent susceptibility to damage, myonecrosis, and regeneration, plus extrinsic nerves, extracellular matrix, and vasculature, examined in the context of growth, ageing, metabolic syndrome, and sexual dimorphism. These many differences emphasise the importance of carefully considering the influence of myofibre‐type composition on manifestation of various neuromuscular disorders across the lifespan for both sexes. Equally, understanding the different responses of slow and fast myofibres due to intrinsic and extrinsic factors can provide deep insight into the precise molecular mechanisms that initiate and exacerbate various neuromuscular disorders. This focus on the influence of different myofibre types is of fundamental importance to enhance translation for clinical management and therapies for many skeletal muscle disorders. [ABSTRACT FROM AUTHOR]

Poultry meat is consumed worldwide and its production is expected to increase in the upcoming years. Genetic selection in poultry focused on growth rate, feed conversion, and breast yield, resulting in the occurrence of white striping and wooden breast abnormalities and, most recently, spaghetti meat. These myopathies affect the quality traits of raw meat, including pH, color, water holding capacity, and cooking loss, which limit its further processing and decrease consumer acceptance. Additionally, the effects of myopathies on the chemical composition, i.e., reduced protein and essential amino acid content and increased fat contents, impair to some extent the nutritional value of the meat. [ABSTRACT FROM AUTHOR]

ObjectiveTo better characterize adult myotubularin 1 (MTM1)-related myopathy carriers and recommend a phenotypic classification.MethodsThis cohort study was performed at the NIH Clinical Center. Participants were required to carry a confirmed MTM1 mutation and were recruited via the Congenital Muscle Disease International Registry (n = 8), a traveling local clinic of the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, NIH and Cure CMD (n = 1), and direct physician referral (n = 1). Neuromuscular examinations, muscle MRI, dynamic breathing MRI, cardiac MRI, pulmonary function tests (PFTs), physical therapy assessments including the Motor Function Measure 32 (MFM-32) scale, and X chromosome inactivation (XCI) studies were performed.ResultsPhenotypic categories were proposed based on ambulatory status and muscle weakness. Carriers were categorized as severe (nonambulatory; n = 1), moderate (minimal independent ambulation/assisted ambulation; n = 3), mild (independent ambulation but with evidence of muscle weakness; n = 4), and nonmanifesting (no evidence of muscle weakness; n = 2). Carriers with more severe muscle weakness exhibited greater degrees of respiratory insufficiency and abnormal signal on muscle imaging. Skeletal asymmetries were evident in both manifesting and nonmanifesting carriers. Skewed XCI did not explain phenotypic severity.ConclusionThis work illustrates the phenotypic range of MTM1-related myopathy carriers in adulthood and recommends a phenotypic classification. This classification, defined by ambulatory status and muscle weakness, is supported by muscle MRI, PFT, and MFM-32 scale composite score findings, which may serve as markers of disease progression and outcome measures in future gene therapy or other clinical trials.

To evaluate the effects of the dietary supplementation with a grape seeds extract (GSE) on growth performance, gut morphology and immune response, and meat quality, 800 chickens (8 pens/group) were fed a control diet or the same diet added with 0.1%, 0.2%, or 0.4% GSE from hatching to 42 d of age. Growth performance did not differ among dietary treatments: final live weight averaged at 3,179 g, which corresponded to a daily growth rate of 76.1 g/d; feed intake averaged 113 g/d, for a feed conversion ratio at 1.49. On average of samplings at 14 d and 28 d of age, the density of CD45+ cells in the jejunal mucosa was higher (2,497 vs. 1,931 cells/10,000 μm2; p < .001) in chickens fed diet 0.2% GSE compared to chickens fed the other diets; jejunum villi height tended to be lower in chickens fed diet 0.2% GSE compared to those fed the other diets (965 μm vs. 1,054 μm; p = .07). Slaughter results and carcase traits, occurrence of myopathies at breast and meat quality after 24 h or 11 d of refrigerated storage were not affected by GSE inclusion or level. Under the conditions of the present study, no relevant effect of the dietary inclusion of GSE was observed on performance and health, but a pro-inflammatory immune response at the level of jejunum, based on which a positive response of chickens fed GSE can be expected under challenging conditions.Highlights Dietary supplementation with grape seed extract from 0.1% to 0.2% and 0.4% were tested in broiler chickens. Growth performance, meat oxidation and myopathy occurrence were not affected. A pro-inflammatory immune response at the level of jejunum was recorded with 0.2% inclusion level.

Background: Juvenile dermatomyositis (JDM) is an autoimmune connective tissue disorder characterized by an inflammation of proximal muscles of both upper and lower limbs in children below the age of 18 years. The condition mainly involves the proximal muscles and skin but extra-muscular involvement such as the gastrointestinal tract, lungs, and heart are also common. Case presentation: We present a case of a 12-year-old south Asian male who developed weakness and muscular pain in all 4 extremities at 3 years of age. The condition gradually worsened recently, and the patient developed tender ulcerated skin nodules. Power in all 4 limbs was decreased and the patient was not able to perform his routine work such as combing of hair, closing a shirt button, and walking. Laboratory investigations revealed raised total leukocyte count (TLC) and erythrocyte sedimentation rate (ESR) and biopsy of the proximal muscles and skin lesions showed focal mild necrotic infiltrate involving nonnecrotic muscle fibers and calcinosis cutis respectively. A diagnosis of JDM was made and the patient was started on immunosuppressive therapy (steroids) and diltiazem. Conclusion: JDM shares clinical features with other autoimmune, genetic, and inflammatory conditions. Proper history, thorough clinical examination, and laboratory workup is needed to rule out other masquerading conditions. This case report also highlighted the importance of diltiazem in the treatment of calcinosis cutis which is more commonly seen in patients with dermatomyositis. [ABSTRACT FROM AUTHOR]

Objectives: This study aims to evaluate the effects of exercise training on intramuscular lipid content and genes related to insulin pathway in patients with systemic autoimmune myopathies (SAMs). Patients and methods: Between January 2016 and May 2019, a total of seven patients with dermatomyositis (DM; 3 males, 4 females; mean age: 49.8±2.3 years; range, 43 to 54 years), six with immune mediated necrotizing myopathy (IMNM; 3 males, 3 females; mean age: 58.5±10.6 years; range, 46 to 74 years), and 10 control individuals (CTRL group; 4 males, 6 females; mean age: 48.7±3.9 years; range, 41 to 56 years) were included. The muscle biopsy before and after the intervention was performed to evaluate the intramuscular lipid content. Patients underwent a combined exercise training program for 12 weeks. Skeletal muscle gene expression was analyzed and the DM versus CTRL group, DM pre- and post-, and IMNM pre- and post-intervention were compared. Results: The DM group had a higher intramuscular lipid content in type II muscle fibers compared to the CTRL group. After the intervention, there was a reduction of lipid content in type I and II fibers in DM and IMNM group. The CTRL group showed a significantly higher expression of genes related to insulin and lipid oxidation pathways (AMPKb2, AS160, INSR, PGC1-a, PI3K, and RAB14) compared to the DM group. After exercise training, there was an increase gene expression related to insulin pathway and lipid oxidation in DM group (AMPKb2, AS160, INSR, PGC1-a, PI3K, and RAB14) and in IMNM group (AKT2, AMPKb2, RAB10, RAB14, and PGC1-a). Conclusion: Exercise training attenuated the amount of fat in type I and II muscle fibers in patients with DM and IMNM and increased gene expression related to insulin pathways and lipid oxidation in DM and IMNM. These results suggest that exercise training can improve the quality and metabolic functions of skeletal muscle in these diseases. [ABSTRACT FROM AUTHOR]

Copyright of Farmacja Polska is the property of Polish Pharmaceutical Society and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Abstract Autophagy classically functions as a physiological process to degrade cytoplasmic components, protein aggregates, and/or organelles, as a mechanism for nutrient breakdown, and as a regulator of cellular architecture. Its biological functions include metabolic stress adaptation, stem cell differentiation, immunomodulation and diseases regulation, and so on. Current researches have proved that autophagy dysfunction may contribute to the pathogenesis of some myopathies through impairment of myofibres regeneration. Studies of autophagy inhibition also indicate the importance of autophagy in muscle regeneration, while activation of autophagy can restore muscle function in some myopathies. In this review, we aim to report the mechanisms of action of autophagy on muscle regeneration to provide relevant references for the treatment of regenerating defective myopathies by regulating autophagy. Results have shown that one key mechanism of autophagy regulating the muscle regeneration is to affect the differentiation fate of muscle stem cells (MuSCs), including quiescence maintenance, activation and differentiation. The roles of autophagy (organelle/protein degradation, energy facilitation, and/or other) vary at different myogenic stages of the repair process. When the muscle is in homeostasis, basal autophagy can maintain the quiescence state and stemness of MuSCs by renewing organelle and protein. After injury, the increased autophagy flux contributes to meet biological energy demand of MuSCs during activation and proliferation. By mitochondrial remodelling, autophagy during differentiation can promote the metabolic transformation and balance mitochondrial‐mediated apoptosis signals in myoblasts. Autophagy in mature myofibres is also essential for the degradation of necrotic myofibres, and may affect the dynamics of MuSCs by affecting the secretion spectrum of myofibres or the recruitment of supporting cells. Except for myogenic cells, autophagy also plays an important role in regulating the function of non‐myogenic cells in the muscle microenvironment, which is also essential for successful muscle recovery. Autophagy can regulate the immune microenvironment during muscle regeneration through the recruitment and polarization of macrophages, while autophagy in endothelial cells can regulate muscle regeneration in an angiogenic or angiogenesis‐independent manner. Drug or nutrition targeted autophagy has been preliminarily proved to restore muscle function in myopathies by promoting muscle regeneration, and further understanding the role and mechanism of autophagy in various cell types during muscle regeneration will enable more effective combinatorial therapeutic strategies.

Abstract Skeletal muscle stem cells have a central role in muscle growth and regeneration. They reside as quiescent cells in resting muscle and in response to damage they transiently amplify and fuse to produce new myofibers or self-renew to replenish the stem cell pool. A signaling pathway that is critical in the regulation of all these processes is Notch. Despite the major differences in the anatomical and cellular niches between the embryonic myotome, the adult sarcolemma/basement-membrane interphase, and the regenerating muscle, Notch signaling has evolved to support the context-specific requirements of the muscle cells. In this review, we discuss the diverse ways by which Notch signaling factors and other modifying partners are operating during the lifetime of muscle stem cells to establish an adaptive dynamic network.

Over the last two decades, haematopoietic stem cell transplantation (HSCT) has been explored as a potential therapeutic strategy for autoimmune diseases refractory to conventional treatments, including neurological disorders. Although both autologous (AHSCT) and allogeneic HSCT (allo-HSCT) were investigated, AHSCT was preferentially developed due to a more favourable safety profile compared to allo-HSCT. Multiple sclerosis (MS) represents the most frequent neurological indication for AHSCT, but increasing evidence on the potential effectiveness of transplant in other autoimmune neurological diseases is emerging, although with a risk-benefit ratio overall more uncertain than in MS. In the present work, the rationale for the use of HSCT in neurological diseases and the experimental models that prompted its clinical application will be briefly covered. Case series and prospective studies exploring the use of HSCT in autoimmune diseases other than MS will be discussed, covering both frequent and rare neurological disorders such as myasthenia gravis, myopathies, and stiff-person syndrome. Finally, an updated summary of ongoing and future studies focusing on this issue will be provided. [ABSTRACT FROM AUTHOR]

Skeletal muscle is the most abundant tissue in the body and requires high levels of energy to function properly. Skeletal muscle allows voluntary movement and body posture, which require different types of fiber, innervation, energy, and metabolism. Here, we summarize the contribution received at the time of publication of this Introductory Issue for the Special Issue dedicated to "Skeletal Muscle Atrophy: Mechanisms at a Cellular Level". The Special Issue is divided into three sections. The first is dedicated to skeletal muscle pathophysiology, the second to disease mechanisms, and the third to therapeutic development. [ABSTRACT FROM AUTHOR]

Copyright of Acta Agriculturae Slovenica is the property of Biotechnical Faculty of the University of Ljubljana and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Objective: Duchenne muscular dystrophy (DMD) is an X-linked muscular dystrophy due to null mutations in the DMD gene that predominantly affects males, while heterozygous females are usually asymptomatic carriers. In approximately 10-20% of cases, they may present with muscle weakness and/or cardiomyopathy. We aimed to describe clinical and molecular characteristics of DMD heterozygous females., Methods: A monocentric, observational, and cross-sectional study was designed. Clinical and molecular data were collected along with, when available, muscle biopsies. The pattern of X inactivation was determined in peripheral blood and the genotypes at SPP1, LTBP4 and CD40 modifier genes were established., Results: We recruited 47 participants: 27 (57%) were asymptomatic and 20 (43%) manifested symptoms. Proximal muscles were prominently involved, as in male dystrophinopathies. Twenty % of carriers showed cardiac involvement. Creatine kinase (CK) values were in the normal range in ~ 20% of symptomatic and ~ 46% asymptomatic patients. In all muscle biopsies, a mosaic of dystrophin positive and negative fibers was observed that only marginally correlated to dystrophin amount. No correlation was found between X chromosome inactivation pattern and the severity of muscular involvement, nor any association with cardiomyopathy. No genotype-phenotype correlations were identified., Interpretation: Genotype/phenotype correlations in females heterozygous for DMD mutations are influenced by multiple mechanisms, of which better understanding will be crucial for future dystrophin gene replacement therapies. An earlier molecular identification is essential to lead to greater awareness of the potential cardiac complications, and hence the reinforcement of  appropriate cardiac follow-up., Competing Interests: Declarations. Conflict of interest: Elena Pegoraro acknowledges payments or honoraria for lectures, presentations, speakers bureaus, manuscript writing or educational events from Biogen, Alexion and Roche; support for attending meetings and/or travels from Roche, Biogen, Argenx and Alexion; payments for participation on a Data Safety Monitoring Board or Advisory Board from Alexion, UCB Biopharma, Santhera and Sanofi. Luca Bello acknowledges research support from PTC Therapeutics; payments or honoraria for lectures, presentations, speakers bureaus, manuscript writing or educational events from PTC Therapeutics and Pfizer; payments for expert testimony from PTC Therapeutics; payments for participation on a Data Safety Monitoring Board or Advisory Board from PTC Therapeutics, Edgewise Therapeutics, and Roche. Gianni Sorarù acknowledges research support from ARISLA SYMP-ALS and PNRR-MR1-2022–12375938; payments for participation on a Data Safety Monitoring Board or Advisory Board from Advisory Board Zambon Italia SLA and Advisory Board PHARMALEX Italy S.p.A Ethical standard: Clinical investigations adhered to the Declaration of Helsinki principles, and written informed consent, approved by institutional review boards, was obtained from all participants or their guardians in accordance with ethical requirements. The coordinating center IRB protocol number is 428n/AO/23., (© 2025. The Author(s).)

Although substantial advancements have been made in genetic testing, several barriers continue to limit patient access, leading to delays in diagnosis, effective treatments, and preventative measures. The NEUROMYODredger-3billion Megaproject End the Diagnostic Odyssey grant offered free whole exome sequencing (WES) to 245 patients with undiagnosed neurodevelopmental or neuromuscular disorders in seven countries: Algeria, Chile, Egypt, France, Mexico, Peru, and Romania. We found pathogenic variants in 79 patients (diagnostic yield 32.24%)-36 neurodevelopmental (43.90%) and 43 neuromuscular (26.38%). Fifty patients harboured variants of uncertain significance (VUS, 20.40%)-14 neurodevelopmental (17.07%) and 36 neuromuscular (22.08%), and 116 patients had negative results (47.34%). NEUROMYODredger helped end the diagnostic odyssey in around 30% of patients, while ongoing functional studies and reanalysis strategies are used in order to reach more diagnoses. In conclusion, a singleton WES approach is valuable in determining the genetic diagnosis of neurodevelopmental and neuromuscular diseases, especially in low and middle-income countries., (© 2025 The Author(s). Clinical Genetics published by John Wiley & Sons Ltd.)

To evaluate the effects of the dietary supplementation with a grape seeds extract (GSE) on growth performance, gut morphology and immune response, and meat quality, 800 chickens (8 pens/group) were fed a control diet or the same diet added with 0.1%, 0.2%, or 0.4% GSE from hatching to 42 d of age. Growth performance did not differ among dietary treatments: final live weight averaged at 3,179 g, which corresponded to a daily growth rate of 76.1 g/d; feed intake averaged 113 g/d, for a feed conversion ratio at 1.49. On average of samplings at 14 d and 28 d of age, the density of CD45+ cells in the jejunal mucosa was higher (2,497 vs. 1,931 cells/10,000 μm2; p <.001) in chickens fed diet 0.2% GSE compared to chickens fed the other diets; jejunum villi height tended to be lower in chickens fed diet 0.2% GSE compared to those fed the other diets (965 μm vs. 1,054 μm; p =.07). Slaughter results and carcase traits, occurrence of myopathies at breast and meat quality after 24 h or 11 d of refrigerated storage were not affected by GSE inclusion or level. Under the conditions of the present study, no relevant effect of the dietary inclusion of GSE was observed on performance and health, but a pro-inflammatory immune response at the level of jejunum, based on which a positive response of chickens fed GSE can be expected under challenging conditions. Dietary supplementation with grape seed extract from 0.1% to 0.2% and 0.4% were tested in broiler chickens. Growth performance, meat oxidation and myopathy occurrence were not affected. A pro-inflammatory immune response at the level of jejunum was recorded with 0.2% inclusion level. [ABSTRACT FROM AUTHOR]

The term limb girdle muscular dystrophy (LGMD) was first used in 1954 by J. N. Walton and F. Nattrass. The authors sought to define another clinical unit in addition to the more common X-linked Duchenne muscular dystrophy and autosomal dominant hereditary myotonic and facioscapulohumeral muscular dystrophy (FSHD). In the following years, there was an increase in knowledge and publications describing individual LGMDs with not only autosomal recessive, but also dominant type of inheritance. It was obvious that LGMD would not be a single disease, but an umbrella term for a whole group of highly variable clinical units with a different genetic and pathophysiological background. The rapid development of molecular genetics, especially next generation sequencing techniques, has led to the discovery of many new associated genes. The new classification from 2018 defines more than 30 LGMD subtypes and is designed with the assumption that more will be added in the future. This publication provides a brief overview of available information on LGMDs and their epidemiology, pathogenesis, phenotypic features, including a description of the most common clinical units, diagnosis, differential diagnosis, and available and evolving treatment options. [ABSTRACT FROM AUTHOR]

INTRODUCTION: During the last two decades, advances in molecular analysis techniques, as well as in gene therapy, have generated changes in the way neuromuscular diseases are approached. Congenital myopathies (CM) are a clinically and genetically heterogeneous group of diseases that primarily affect the muscle fiber, especially the contractile apparatus and the different components that condition its normal functioning. CASE: We present the case of a female patient 9 years and 3 months, with orthopedic alterations since she was 2 months old, hip dysplasia, clubfoot, thoracolumbar kyphoscoliosis with genetic study with mutation of the RYR1 gene, compatible with central core myopathy. CONCLUSIONS: The early diagnosis of this pathology allows to improve the quality of life of the patient, as well as an adequate genetic advice to the parents. The objective of the description is to know the main diagnostic manifestations and how to carry out a diagnostic approach. [ABSTRACT FROM AUTHOR]

BackgroundTo report a novel exertional myopathy, myofibrillar myopathy (MFM) in Warmblood (WB) horses.ObjectivesTo 1) describe the distinctive clinical and myopathic features of MFM in Warmblood horses and 2) investigate the potential inheritance of MFM in a Warmblood family.Study designRetrospective selection of MFM cases and prospective evaluation of a Warmblood family.MethodsRetrospectively, muscle biopsies were selected from Warmblood horses diagnosed with MFM and clinical histories obtained (n = 10). Prospectively, muscle biopsies were obtained from controls (n = 8) and a three generation WB family (n = 11). Samples were assessed for histopathology [scored 0-3], fibre types, cytoskeletal and Z disc protein aggregates, electron microscopic alterations (EM) and muscle glycogen concentrations.ResultsMyofibrillar myopathy-affected cases experienced exercise intolerance, reluctance to go forward, stiffness and poorly localised lameness. Abnormal aggregates of the cytoskeletal protein desmin were found in up to 120 type 2a and a few type 2x myofibres of MFM cases. Desmin positive fibres did not stain for developmental myosin, α actinin or dystrophin. Scores for internalised myonuclei (score MFM 0.83 ± 0.67, controls 0.22 ± 0.45), anguloid atrophy (MFM 0.95 ± 0.55, controls 0.31 ± 0.37) and total myopathic scores (MFM 5.85 ± 2.10, controls 1.41 ± 2.17) were significantly higher in MFM cases vs.ControlsFocal Z disc degeneration, myofibrillar disruption and accumulation of irregular granular material was evident in MFM cases. Muscle glycogen concentrations were similar between MFM cases and controls. In the Warmblood family, desmin positive aggregates were found in myofibres of the founding dam and in horses from two subsequent generations.Main limitationsRestricted sample size due to limited availability of well phenotyped cases.ConclusionsA distinctive and potentially heritable form of MFM exists in Warmblood horses that present with exercise intolerance and abnormal hindlimb gait. Muscle tissue is characterised by ectopic accumulation of desmin and Z disc and myofibrillar degeneration.

• Muscular sarcoidosis is a rare disease. • Muscular sarcoidosis can be the initial manifestation of sarcoidosis. • Symptoms include subacute or chronic muscle weakness or myalgia. • Half of patients had symptoms leading to substantial disability at last follow-up. We evaluated the clinical features and treatment response of patients with muscular sarcoidosis. A retrospective cohort of 12 patients showed muscle weakness in 11 and myalgia in seven. One had focal myositis. Four had a negative medical history for sarcoidosis. Muscle imaging showed muscle edema in all and replacement of muscle tissue by fat in half of patients. Muscle biopsy showed non-caseating granulomas in six of nine patients and inflammation without granulomas in three. None of the muscle biopsies showed features of inclusion body myositis. Imaging in three patients without muscle biopsy showed focal intramuscular masses or a 'tiger man' appearance typical for muscular sarcoidosis. Treatment consisted of glucocorticoids in 11, additional methotrexate or azathioprine in seven and infliximab in two patients. Half of the patients had symptoms leading to substantial disability (modified Rankin scale score >1) at last follow-up. A literature review of articles describing more than one muscular sarcoidosis patient published in the last 25 years identified 153 additional patients. We found muscular sarcoidosis to be a rare and often disabling disease which may be recognized by typical muscle imaging characteristics and add focal myositis to the muscular phenotypes of sarcoidosis. [ABSTRACT FROM AUTHOR]