Spinal muscular atrophy is a devastating motor neuron disease characterized by severe cases of fatal muscle weakness.It is one of the most common genetic causes of mortality among infants aged less than 2 years.Biomar...Spinal muscular atrophy is a devastating motor neuron disease characterized by severe cases of fatal muscle weakness.It is one of the most common genetic causes of mortality among infants aged less than 2 years.Biomarker research is currently receiving more attention,and new candidate biomarkers are constantly being discovered.This review initially discusses the evaluation methods commonly used in clinical practice while briefly outlining their respective pros and cons.We also describe recent advancements in research and the clinical significance of molecular biomarkers for spinal muscular atrophy,which are classified as either specific or non-specific biomarkers.This review provides new insights into the pathogenesis of spinal muscular atrophy,the mechanism of biomarkers in response to drug-modified therapies,the selection of biomarker candidates,and would promote the development of future research.Furthermore,the successful utilization of biomarkers may facilitate the implementation of gene-targeting treatments for patients with spinal muscular atrophy.展开更多
Spinal and bulbar muscular atrophy is a neurodegenerative disease caused by extended CAG trinucleotide repeats in the androgen receptor gene,which encodes a ligand-dependent transcription facto r.The mutant androgen r...Spinal and bulbar muscular atrophy is a neurodegenerative disease caused by extended CAG trinucleotide repeats in the androgen receptor gene,which encodes a ligand-dependent transcription facto r.The mutant androgen receptor protein,characterized by polyglutamine expansion,is prone to misfolding and forms aggregates in both the nucleus and cytoplasm in the brain in spinal and bulbar muscular atrophy patients.These aggregates alter protein-protein interactions and compromise transcriptional activity.In this study,we reported that in both cultured N2a cells and mouse brain,mutant androgen receptor with polyglutamine expansion causes reduced expression of mesencephalic astrocyte-de rived neurotrophic factor.Overexpressio n of mesencephalic astrocyte-derived neurotrophic factor amelio rated the neurotoxicity of mutant androgen receptor through the inhibition of mutant androgen receptor aggregation.Conversely.knocking down endogenous mesencephalic astrocyte-derived neurotrophic factor in the mouse brain exacerbated neuronal damage and mutant androgen receptor aggregation.Our findings suggest that inhibition of mesencephalic astrocyte-derived neurotrophic factor expression by mutant androgen receptor is a potential mechanism underlying neurodegeneration in spinal and bulbar muscular atrophy.展开更多
BACKGROUND: This study aimed to explore the risk factors associated with intensive care unitacquired weakness(ICU-AW) in critically ill patients at risk of malnutrition and to evaluate the efficacy of early enteral nu...BACKGROUND: This study aimed to explore the risk factors associated with intensive care unitacquired weakness(ICU-AW) in critically ill patients at risk of malnutrition and to evaluate the efficacy of early enteral nutrition(EEN) and the role of biomarkers in managing ICU-AW.METHODS: This retrospective, observational cohort study included 180 patients at risk of malnutrition admitted to the emergency intensive care unit of the First Affiliated Hospital of Xiamen University Hospital from January 2022 to December 2023. Patients were divided into ICU-AW group and non-ICU-AW group according to whether they developed ICU-AW, or categorized into EEN and parenteral nutrition(PN) groups according to nutritional support. ICU-AW was diagnosed using the Medical Research Council score. The primary outcome was the occurrence of ICU-AW.RESULTS: The significant factors associated with ICU-AW included age, sex, type of nutritional therapy, mechanical ventilation(MV), body mass index(BMI), blood urea nitrogen(BUN), and creatinine(Cr) levels(P<0.05). The PN group developed ICU-AW earlier than did the EEN group, with a significant difference observed(log-rank P<0.001). Among biomarkers for ICU-AW, the mean prealbumin(PAB)/C-reactive protein(CRP) ratio had the highest diagnostic accuracy(area under the curve [AUC] 0.928, 95% confidence interval [95% CI] 0.892–0.946), surpassing the mean Cr/BUN ratio(AUC 0.740, 95% CI 0.663–0.819) and mean transferrin levels(AUC 0.653, 95% CI 0.574–0.733).CONCLUSION: Independent risk factors for ICU-AW include female sex, advanced age, PN, MV, lower BMI, and elevated BUN and Cr levels. EEN may potentially delay ICU-AW onset, and the PAB/CRP ratio may be an effective diagnostic marker for this condition.展开更多
The muscular system plays a critical role in the human body by governing skeletal movement,cardiovascular function,and the activities of digestive organs.Additionally,muscle tissues serve an endocrine function by secr...The muscular system plays a critical role in the human body by governing skeletal movement,cardiovascular function,and the activities of digestive organs.Additionally,muscle tissues serve an endocrine function by secreting myogenic cytokines,thereby regulating metabolism throughout the entire body.Maintaining muscle function requires iron homeostasis.Recent studies suggest that disruptions in iron metabolism and ferroptosis,a form of iron-dependent cell death,are essential contributors to the progression of a wide range of muscle diseases and disorders,including sarcopenia,cardiomyopathy,and amyotrophic lateral sclerosis.Thus,a comprehensive overview of the mechanisms regulating iron metabolism and ferroptosis in these conditions is crucial for identifying potential therapeutic targets and developing new strategies for disease treatment and/or prevention.This review aims to summarize recent advances in understanding the molecular mechanisms underlying ferroptosis in the context of muscle injury,as well as associated muscle diseases and disorders.Moreover,we discuss potential targets within the ferroptosis pathway and possible strategies for managing muscle disorders.Finally,we shed new light on current limitations and future prospects for therapeutic interventions targeting ferroptosis.展开更多
The abundant muscle tissues of the forearm determine the movements of the wrist,hand and fingers together.However,linking wrist kinematics and forearm muscle activation is still a challenging.There may exist blindness...The abundant muscle tissues of the forearm determine the movements of the wrist,hand and fingers together.However,linking wrist kinematics and forearm muscle activation is still a challenging.There may exist blindness in the rehabilitation therapy of forearm muscles,due to the lack of the physiological characteristics of muscle activation and sequences.An armband with eight channels was used to collect surface electromyographic signals(sEMGs)of a specific section of the forearm under the different wrist movements,palm postures,and external loads,based on the image of magnetic resonance imaging(MRI).The collected cross-sectional muscles covered almost all surface muscles.The muscle activation could be expressed clearly by enveloping the sEMG signals of 8 muscles within a single cycle.The root mean square(RMS)and the average peak value V_(P) were used to evaluate the activation intensities of dominant muscles.The activation sequences and the absolute times of dominant muscles were obtained from the envelopes of their raw sEMGs,and not influenced by the palm postures and external loads.In addition,their RMS and V_(P) under each wrist movement increased approximate linearly with external loads.The corresponding contribution ratios were first calculated to evaluate the role played by each muscle.The well-defined data of forearm muscles could provide standard references for the rehabilitation therapy of forearm muscles.展开更多
Objectives:As the Duchenne Muscular Dystrophy(DMD)is a progressive neuromuscular disorder frequently associated with cardiac dysfunction,this study aimed to evaluate the influence of beta-blocker therapy on cardiac au...Objectives:As the Duchenne Muscular Dystrophy(DMD)is a progressive neuromuscular disorder frequently associated with cardiac dysfunction,this study aimed to evaluate the influence of beta-blocker therapy on cardiac autonomic modulation in adolescents withDMDby analyzing heart rate variability(HRV)indices in patients with and without betablockers.Methods:A cross-sectional study was conducted with 90 participants divided into three groups:(1)participants with DMD receiving beta-blocker therapy(DMDB,n=30),(2)participants with DMD without beta-blocker therapy(GMDM,n=30),and(3)age-and sex-matched typically developing participants(GDT,n=30).HRV was assessed using validated beat-to-beat heart rate monitoring(RS800CX,Polar)under controlled conditions.Linear and non-linear HRV indices(including Detrended Fluctuation Analysis and Symbolic Dynamics)were analysed using Kubios HRV software.Results:DMD patients exhibited autonomic impairment,characterized by decreased HRV,increased sympathetic dominance,and reduced parasympathetic modulation.Betablocker therapy was associated with significantly higher Mean Beat-to-beat interval(RR)and lower Mean Heart Rate(HR)compared to the non-beta-blocker DMD group,with values approaching those observed in typically developing participants.Non-linear indices suggested thatDMDpatients receiving beta-blockers demonstrated increased HRV complexity and fractal properties compared to those not receiving beta-blockers,although differences remained between the DMD and control groups.Conclusions:Autonomic dysfunction in DMD is characterized by reduced HRV and altered sympathovagal balance.In our results,beta-blocker therapy was associated with improved HRV and enhanced autonomic control.These findings highlight the potential cardioprotective role of betablockers in DMD management and emphasize the need for further research into optimizing autonomic function in DMD.展开更多
BACKGROUND Duchenne muscular dystrophy(DMD)is a neuromuscular disorder caused by mutations in the dystrophin gene.DMD is reported to coexist with other comorbidities,although the occurrence of the triad,autism spectru...BACKGROUND Duchenne muscular dystrophy(DMD)is a neuromuscular disorder caused by mutations in the dystrophin gene.DMD is reported to coexist with other comorbidities,although the occurrence of the triad,autism spectrum disorder(ASD),and epilepsy is very rare.Indeed,only one case of the triad has currently been reported.Here,we present a detailed case report of a ten-year-old boy with DMD,ASD,and epilepsy.We also investigated the dysregulation of miRNAs in this unusual triad(represented as DMD++)compared with a healthy individual and a DMD patient(represented as DMD+)without autism.AIM To understand the differential expression of miRNAs in rare comorbid DMD cases.METHODS The Sequin Form Board test,Gesell's drawing test,multiplex ligation probe amplification,and Vineland Social Maturity Scale were applied to confirm the DMD and ASD.Total RNA was isolated from samples using TRIzol.cDNA was synthesized using the Mir-X^(TM)miRNA First-Strand Synthesis kit.qRT-PCR was performed using SYBR Advantage qPCR Premix.The results were statistically analyzed using one-way analysis of variance with Tukey's ttest.RESULTS miR-146a-5p and miR-132-5p showed significant downregulation in both patient samples.miR-199a-5p and miR-146a-3p showed no change in expression between the diseased and controls.miR-132-3p showed downregulation only in the DMD+sample(0.21±0.04).The decrease in miR-132-3p can result in failed silencing of the phosphatase and tensin homolog-mediated apoptotic pathway,leading to severe skeletal muscle atrophy.Here,the downregulation of miR-132-3p in DMD+is consistent with severe muscle loss and higher disease progression than that in DMD++.DMD++has slower disease progression,and the expression of miRNA involved in inflammatory and apoptotic responses is more similar to that of the control.CONCLUSION Our study shows marked difference in miRNA expression in this rare case of DMD with autism and epilepsy.These miRNAs also serve as regulators of several muscle regeneration,apoptosis,and inflammatory pathways.This study shows the significance of studying miRNAs in such rare cases in a larger cohort to progress in several intervention treatments utilizing miRNAs.展开更多
Duchenne muscular dystrophy (DMD) is a hereditary, progressive muscular disorder inherited in an X-linked recessive pattern (Xp21). It typically manifests in childhood and follows a severe, rapid progression. Only mal...Duchenne muscular dystrophy (DMD) is a hereditary, progressive muscular disorder inherited in an X-linked recessive pattern (Xp21). It typically manifests in childhood and follows a severe, rapid progression. Only males are affected, while females are usually carriers. Given the genetic nature of DMD, genetic counseling is an essential service for individuals affected by or at risk of carrying the disease. This service provides not only crucial medical information but also psychosocial support and ongoing management for both patients and their families. Since the discovery of the dystrophin gene in 1987, advancements in molecular genetics have made it possible to precisely identify the genes responsible for many neuromuscular diseases. These developments have revolutionized diagnosis, prognosis, and most importantly, genetic counseling, offering significant benefits for both patients and their families. To highlight the significance of these advancements, this case report focuses on a 10-year-old boy (Y) diagnosed with DMD. It emphasizes the familial nature of the disease, with Y’s two brothers, three cousins, and two maternal uncles also affected, underscoring the inherited pattern of DMD. This reinforces the critical need for early intervention, particularly in regions with high consanguinity, such as North Africa and the Middle East, where genetic counseling and prenatal diagnosis are even more essential. Additionally, the report explores the clinical presentation, diagnostic findings, and promising emerging treatments, including RNA-based therapies, which may play a key role in the future management of DMD. In light of the above, this study underscores the importance of prenatal diagnosis and genetic counseling, particularly in regions like Morocco, where consanguinity rates are notably high. By focusing on preconception care and early genetic intervention, families can be better informed, leading to more effective disease management and support.展开更多
The online version of the original article can be found at:https://www.sciopen.com/article/10.26599/JOTO.2025.9540018 Erratum to Journal of Otology,2025,20(2):123-126.https://doi.org/10.26599/JOTO.2025.9540018 The sur...The online version of the original article can be found at:https://www.sciopen.com/article/10.26599/JOTO.2025.9540018 Erratum to Journal of Otology,2025,20(2):123-126.https://doi.org/10.26599/JOTO.2025.9540018 The surnames and given names of these authors are reversed:Saro-Buendía Miguel,Andresen-Lorca Belén,Pérez-García Alberto,Llópez Carratala Nacho,Carreres Polo Joan,Armengot Carceller Miguel,Perolada Valmaña Jose María.It should be Miguel Saro-Buendía,Belén Andresen-Lorca,Alberto Pérez-García,Nacho Llópez Carratala,Joan Carreres Polo,Miguel Armengot Carceller,Jose María Perolada Valmaña.展开更多
Osteoradionecrosis of the temporal bone(ORN-TB)is usually controlled with conservative measures.However,a temporal bone resection may be required in unresponsive cases.The reconstruction of the resulting defects may b...Osteoradionecrosis of the temporal bone(ORN-TB)is usually controlled with conservative measures.However,a temporal bone resection may be required in unresponsive cases.The reconstruction of the resulting defects may be challenging because of the radiation damage to regional tissues.As a result,distant free flaps may be an optimal choice.For instance,the gracilis muscular free flap(GMFF)has consistent vascular anatomy and can be used to reconstruct small defects.We report three cases of uncontrolled ORN-TB requiring an extensive temporal bone resection followed by vascularized obliteration with a GMFF.The patients reported complete control of the main otologic symptoms(otorrhea,otalgia,and aural fullness)and optimal functional and aesthetic outcomes.Finally,the patients reported significant improvement in quality of life despite early postoperative complications.To our knowledge,the GMFF had not been used to obliterate temporal bone defects in patients with ORN-TB.展开更多
BACKGROUND Duchenne muscular dystrophy(DMD)is a severe lethal X-linked monogenic recessive congenital muscular dystrophy caused by various types of mutations in the dystrophin gene(DG).It is one of the most common hum...BACKGROUND Duchenne muscular dystrophy(DMD)is a severe lethal X-linked monogenic recessive congenital muscular dystrophy caused by various types of mutations in the dystrophin gene(DG).It is one of the most common human genetic diseases and the most common type of muscular dystrophy,in part because DG is one of the largest protein-coding genes in the human genome with a relatively high risk of being affected by a large palette of mutations.Long-term corticosteroid therapy(LTCT)with deflazacort started at age 4 is the most accessible and used pharmacological therapy for DMD in Romania."Asea®redox supplement"(ARS)is an approved dietary supplement in the European Union.Several studies have shown that it is a very potent selective NRF2 activator,and thus a very potent,albeit indirect,antioxidant,with no toxicity up to high doses,in contrast to LTCT.CASE SUMMARY This paper presents a 3-case series on the effects of ARS in a 4-year-old,5-year-old and 3-year-old boy all with DMD from Bucharest or Slobozia(Romania).This is the first report of this type worldwide.The parents of these boys had refused LTCT.They were treated with relatively high doses of ARS(3-7 mL/kg/day).For two patients,ARS was administered in combination with medium doses of Lcarnitine and omega-3 fatty acids for various intellectual disabilities.Periodic consults and assessments for rhabdomyolysis,medullar and liver toxicity markers(blood count,gamma-glutamyl transferase,aspartate aminotransferase,alanine transaminase,lactate dehydrogenase,creatine kinase,creatine kinase-MB and serum myoglobin)were performed.In vitro studies showed that ARS is a very potent and selective NRF2 activator,and thus a very potent indirect antioxidant.The in vivo studies also support this main pharmacological mechanism of ARS,with no toxicity at high doses,in contrast with much more toxic corticosteroids which are often refused by parents for their children with DMD.Although they were three distinct ages and carried three distinct DG mutations,from the first months of ARS-based treatment,the children responded similarly to ARS.The rhabdomyolysis markers,which were initially very high,significantly dropped,and there was no evidence for medullar and/or hepatic toxicity in any of the 3 patients.CONCLUSIONS ARS has significant indirect antioxidant effects via NRF2 and deserves extensive trials in children with DMD,as an adjuvant to corticoids or as a substitute in DMD patients who refuse corticoids.Future trials should also focus on ARS as an adjuvant in many types of acute/chronic infectious/non-infectious diseases where cellular oxidative stress is involved.展开更多
[ Objective] The aim of this experiment was to explore the effects of different rearing modes on muscle histological traits and muscle ten demess and to provide theoretical basis for regulating chicken meat quality. [...[ Objective] The aim of this experiment was to explore the effects of different rearing modes on muscle histological traits and muscle ten demess and to provide theoretical basis for regulating chicken meat quality. [ Method] The effects of outdoor rearing, indoor rearing and cage rea ring modes on the muscular histological traits and meat tenderness of Hetian chicken at the age of 8 weeks, 12 weeks and 16 weeks were re searched. [Result] The results showed that the breast and thigh muscle fibre diameter and muscle shear force of outdoor rearing chicken were sig nificently higher than that of cage rearing chicken （ P 〈 0.05）, and muscle fibre density was significantly lower than that of cage rearing chicken （ P 〈 0.05）. With aging, the muscle fibre diameter and shear force increased and muscle fibre density decreased （ P 〈 0.05）. The muscle fibre di ameter and shear force of male were higher than that of female. The correlation analysis showed that the breast muscle shear force had a signifi cantly positive relation with fibre diameter and negative relation with fibre density （ P 〈 0.05）, but thigh muscle shear force had an insignificantly pos itive relation with fibre diameter and fibre density. [ Condusion] Muscular histological traits varied in different rearing modes, and the outdoor rearing promoted the muscular fibre development and increased the muscular shear force.展开更多
[Objective] This study aimed to investigate the characteristics of deposition of inosine monophosphate （IMP） and intramuscular fat （IMF） in muscles of Jinghai yellow chickens and its crossbred.[Method] The charact...[Objective] This study aimed to investigate the characteristics of deposition of inosine monophosphate （IMP） and intramuscular fat （IMF） in muscles of Jinghai yellow chickens and its crossbred.[Method] The characteristics of IMP and IMF deposition of 112-day-old Jinghai yellow chickens （J×J） and its two different 70-day- old crossbreeds （J×B and B×B） were analyzed. The IMP content in breast muscle and leg muscle were determined by HPLC. [Result] The contents of IMP and cor- rected inosine monophosphate （IMPc） in breast muscle were significantly or ex- tremely significantly higher than that in leg muscle of the chickens in the three groups whether in male or female chickens （P〈0.05 or P〈0.01）. There were no sig- nificant difference in the contents of IMP and IMPc between hens and roosters （P〉 0.05）. The fresh degree of breast muscle and leg muscle was 96,11%-98.16% and 87.22%-93.07%, respectively. And the fresh degree of breast muscle was higher than that of leg muscle. In the three groups, the IMF content in leg muscle was significantly higher than that in breast muscle whether in male or female chickens （P〈0.05）. The contents of IMF in breast muscle and leg muscle were 0.36%-0.75% and 1.84%-2.38%, respectively. The iMP content in breast muscle of chickens in Bx J group was extremely significantly higher than that in breast muscle of chickens in JxJ group （P〈0.01）, but the contents of IMPc and iMF of breast muscle and leg muscle of the chickens in the three groups had no significant difference （P〉0.05）. [Conclusion] To sum up, the freshness and flavor significantly differ between the breast muscle and leg muscle of chickens, but show no significant difference among the three groups.展开更多
Objective＇ To study the muscular histological traits and their relationship with meat tenderness in local broilers and provide a theoretical basis for promoting meat quality of broiler. [Methed] The diameter and dens...Objective＇ To study the muscular histological traits and their relationship with meat tenderness in local broilers and provide a theoretical basis for promoting meat quality of broiler. [Methed] The diameter and density of muscle fiber of three local varieties of chicken （Beijing Fatty broil- er, Fujian Hetian broiler and Taining Black broiler） were detected at the age of 8 weeks, 12 weeks and 16 weeks. And the differences in the diame- ter and density of muscle fiber as well as their relationship with meat tenderness were respectively analyzed with SAS software. [ Resultl Fatty broil- er had the smallest muscle fiber diameter while Hetian broiler the largest; Fatty broiler had the highest muscle fiber density while Hetian broiler the lowest Hetian broiler had the highest muscle shear force of leg muscle while Black broiler the lowest （ P 〈0.05） ; Black broiler had the highest mus- cle shear force of breast muscle while Fatty broiler the lowest （P〈0.05）. The correlation analysis showed that the shear force of breast muscle and leg muscle had significantly positive relation with fiber diameter and significantly negative relation with fiber density （ P 〈 0.05）. [ Conclusion] Muscu- lar histological traits varied in different local broilers, and the muscular shear force had significantly relation with fiber diameter and density.展开更多
Visceral myopathy is one of the causes of chronic intestinal pseudo-obstruction. Most cases pathologically reveal degenerative changes of myocytes or muscularis propia atrophy and fibrosis. Abnormal layering of muscul...Visceral myopathy is one of the causes of chronic intestinal pseudo-obstruction. Most cases pathologically reveal degenerative changes of myocytes or muscularis propia atrophy and fibrosis. Abnormal layering of muscularis propria is extremely rare. We report a case of a 9-mo-old Thai male baby who presented with chronic intestinal pseudo-obstruction. Histologic findings showed abnormal layering of small intestinal muscularis propria with an additional oblique layer and aberrant muscularization in serosa. The patient also had a short small bowel without malrotation, brachydactyly,and absence of the 2nd to 4th middle phalanges of both hands. The patient was treated with cisapride and combined parenteral and enteral nutritional support.He had gradual clinical improvement and gained body weight. Subsequently, the parenteral nutrition was discontinued. The previously reported cases are reviewed and discussed.展开更多
基金supported by the Collaborative Innovation Center for Clinical and Translational Science by Chinese Ministry of Education&Shanghai,No.CCTS-2022205the“Double World-Class Project”of Shanghai Jiaotong University School of Medicine(both to JZ)。
文摘Spinal muscular atrophy is a devastating motor neuron disease characterized by severe cases of fatal muscle weakness.It is one of the most common genetic causes of mortality among infants aged less than 2 years.Biomarker research is currently receiving more attention,and new candidate biomarkers are constantly being discovered.This review initially discusses the evaluation methods commonly used in clinical practice while briefly outlining their respective pros and cons.We also describe recent advancements in research and the clinical significance of molecular biomarkers for spinal muscular atrophy,which are classified as either specific or non-specific biomarkers.This review provides new insights into the pathogenesis of spinal muscular atrophy,the mechanism of biomarkers in response to drug-modified therapies,the selection of biomarker candidates,and would promote the development of future research.Furthermore,the successful utilization of biomarkers may facilitate the implementation of gene-targeting treatments for patients with spinal muscular atrophy.
基金supported by the National Key R&D Program of China,No.2021YFA0805200(to SY)the National Natural Science Foundation of China,No.31970954(to SY)two grants from the Department of Science and Technology of Guangdong Province,Nos.2021ZT09Y007,2020B121201006(both to XJL)。
文摘Spinal and bulbar muscular atrophy is a neurodegenerative disease caused by extended CAG trinucleotide repeats in the androgen receptor gene,which encodes a ligand-dependent transcription facto r.The mutant androgen receptor protein,characterized by polyglutamine expansion,is prone to misfolding and forms aggregates in both the nucleus and cytoplasm in the brain in spinal and bulbar muscular atrophy patients.These aggregates alter protein-protein interactions and compromise transcriptional activity.In this study,we reported that in both cultured N2a cells and mouse brain,mutant androgen receptor with polyglutamine expansion causes reduced expression of mesencephalic astrocyte-de rived neurotrophic factor.Overexpressio n of mesencephalic astrocyte-derived neurotrophic factor amelio rated the neurotoxicity of mutant androgen receptor through the inhibition of mutant androgen receptor aggregation.Conversely.knocking down endogenous mesencephalic astrocyte-derived neurotrophic factor in the mouse brain exacerbated neuronal damage and mutant androgen receptor aggregation.Our findings suggest that inhibition of mesencephalic astrocyte-derived neurotrophic factor expression by mutant androgen receptor is a potential mechanism underlying neurodegeneration in spinal and bulbar muscular atrophy.
文摘BACKGROUND: This study aimed to explore the risk factors associated with intensive care unitacquired weakness(ICU-AW) in critically ill patients at risk of malnutrition and to evaluate the efficacy of early enteral nutrition(EEN) and the role of biomarkers in managing ICU-AW.METHODS: This retrospective, observational cohort study included 180 patients at risk of malnutrition admitted to the emergency intensive care unit of the First Affiliated Hospital of Xiamen University Hospital from January 2022 to December 2023. Patients were divided into ICU-AW group and non-ICU-AW group according to whether they developed ICU-AW, or categorized into EEN and parenteral nutrition(PN) groups according to nutritional support. ICU-AW was diagnosed using the Medical Research Council score. The primary outcome was the occurrence of ICU-AW.RESULTS: The significant factors associated with ICU-AW included age, sex, type of nutritional therapy, mechanical ventilation(MV), body mass index(BMI), blood urea nitrogen(BUN), and creatinine(Cr) levels(P<0.05). The PN group developed ICU-AW earlier than did the EEN group, with a significant difference observed(log-rank P<0.001). Among biomarkers for ICU-AW, the mean prealbumin(PAB)/C-reactive protein(CRP) ratio had the highest diagnostic accuracy(area under the curve [AUC] 0.928, 95% confidence interval [95% CI] 0.892–0.946), surpassing the mean Cr/BUN ratio(AUC 0.740, 95% CI 0.663–0.819) and mean transferrin levels(AUC 0.653, 95% CI 0.574–0.733).CONCLUSION: Independent risk factors for ICU-AW include female sex, advanced age, PN, MV, lower BMI, and elevated BUN and Cr levels. EEN may potentially delay ICU-AW onset, and the PAB/CRP ratio may be an effective diagnostic marker for this condition.
基金the National Natural Science Foundation of China(82471593 to J.M.32330047 and 31930057 to F.W.+2 种基金and 82071970 to Y.W.and 82072506 to Y.L.)the Science Fund for Distinguished Young Scholars of Hubei Province(2023AFA109 to Y.W.)Hubei Provincial Natural Science Foundation of China(2024AFB963 to Q.R.).
文摘The muscular system plays a critical role in the human body by governing skeletal movement,cardiovascular function,and the activities of digestive organs.Additionally,muscle tissues serve an endocrine function by secreting myogenic cytokines,thereby regulating metabolism throughout the entire body.Maintaining muscle function requires iron homeostasis.Recent studies suggest that disruptions in iron metabolism and ferroptosis,a form of iron-dependent cell death,are essential contributors to the progression of a wide range of muscle diseases and disorders,including sarcopenia,cardiomyopathy,and amyotrophic lateral sclerosis.Thus,a comprehensive overview of the mechanisms regulating iron metabolism and ferroptosis in these conditions is crucial for identifying potential therapeutic targets and developing new strategies for disease treatment and/or prevention.This review aims to summarize recent advances in understanding the molecular mechanisms underlying ferroptosis in the context of muscle injury,as well as associated muscle diseases and disorders.Moreover,we discuss potential targets within the ferroptosis pathway and possible strategies for managing muscle disorders.Finally,we shed new light on current limitations and future prospects for therapeutic interventions targeting ferroptosis.
基金Supported by National Natural Science Foundation of China(Grant Nos.52375279,52175001)Beijing Natural Science Foundation(Grant No.3252002).
文摘The abundant muscle tissues of the forearm determine the movements of the wrist,hand and fingers together.However,linking wrist kinematics and forearm muscle activation is still a challenging.There may exist blindness in the rehabilitation therapy of forearm muscles,due to the lack of the physiological characteristics of muscle activation and sequences.An armband with eight channels was used to collect surface electromyographic signals(sEMGs)of a specific section of the forearm under the different wrist movements,palm postures,and external loads,based on the image of magnetic resonance imaging(MRI).The collected cross-sectional muscles covered almost all surface muscles.The muscle activation could be expressed clearly by enveloping the sEMG signals of 8 muscles within a single cycle.The root mean square(RMS)and the average peak value V_(P) were used to evaluate the activation intensities of dominant muscles.The activation sequences and the absolute times of dominant muscles were obtained from the envelopes of their raw sEMGs,and not influenced by the palm postures and external loads.In addition,their RMS and V_(P) under each wrist movement increased approximate linearly with external loads.The corresponding contribution ratios were first calculated to evaluate the role played by each muscle.The well-defined data of forearm muscles could provide standard references for the rehabilitation therapy of forearm muscles.
文摘Objectives:As the Duchenne Muscular Dystrophy(DMD)is a progressive neuromuscular disorder frequently associated with cardiac dysfunction,this study aimed to evaluate the influence of beta-blocker therapy on cardiac autonomic modulation in adolescents withDMDby analyzing heart rate variability(HRV)indices in patients with and without betablockers.Methods:A cross-sectional study was conducted with 90 participants divided into three groups:(1)participants with DMD receiving beta-blocker therapy(DMDB,n=30),(2)participants with DMD without beta-blocker therapy(GMDM,n=30),and(3)age-and sex-matched typically developing participants(GDT,n=30).HRV was assessed using validated beat-to-beat heart rate monitoring(RS800CX,Polar)under controlled conditions.Linear and non-linear HRV indices(including Detrended Fluctuation Analysis and Symbolic Dynamics)were analysed using Kubios HRV software.Results:DMD patients exhibited autonomic impairment,characterized by decreased HRV,increased sympathetic dominance,and reduced parasympathetic modulation.Betablocker therapy was associated with significantly higher Mean Beat-to-beat interval(RR)and lower Mean Heart Rate(HR)compared to the non-beta-blocker DMD group,with values approaching those observed in typically developing participants.Non-linear indices suggested thatDMDpatients receiving beta-blockers demonstrated increased HRV complexity and fractal properties compared to those not receiving beta-blockers,although differences remained between the DMD and control groups.Conclusions:Autonomic dysfunction in DMD is characterized by reduced HRV and altered sympathovagal balance.In our results,beta-blocker therapy was associated with improved HRV and enhanced autonomic control.These findings highlight the potential cardioprotective role of betablockers in DMD management and emphasize the need for further research into optimizing autonomic function in DMD.
文摘BACKGROUND Duchenne muscular dystrophy(DMD)is a neuromuscular disorder caused by mutations in the dystrophin gene.DMD is reported to coexist with other comorbidities,although the occurrence of the triad,autism spectrum disorder(ASD),and epilepsy is very rare.Indeed,only one case of the triad has currently been reported.Here,we present a detailed case report of a ten-year-old boy with DMD,ASD,and epilepsy.We also investigated the dysregulation of miRNAs in this unusual triad(represented as DMD++)compared with a healthy individual and a DMD patient(represented as DMD+)without autism.AIM To understand the differential expression of miRNAs in rare comorbid DMD cases.METHODS The Sequin Form Board test,Gesell's drawing test,multiplex ligation probe amplification,and Vineland Social Maturity Scale were applied to confirm the DMD and ASD.Total RNA was isolated from samples using TRIzol.cDNA was synthesized using the Mir-X^(TM)miRNA First-Strand Synthesis kit.qRT-PCR was performed using SYBR Advantage qPCR Premix.The results were statistically analyzed using one-way analysis of variance with Tukey's ttest.RESULTS miR-146a-5p and miR-132-5p showed significant downregulation in both patient samples.miR-199a-5p and miR-146a-3p showed no change in expression between the diseased and controls.miR-132-3p showed downregulation only in the DMD+sample(0.21±0.04).The decrease in miR-132-3p can result in failed silencing of the phosphatase and tensin homolog-mediated apoptotic pathway,leading to severe skeletal muscle atrophy.Here,the downregulation of miR-132-3p in DMD+is consistent with severe muscle loss and higher disease progression than that in DMD++.DMD++has slower disease progression,and the expression of miRNA involved in inflammatory and apoptotic responses is more similar to that of the control.CONCLUSION Our study shows marked difference in miRNA expression in this rare case of DMD with autism and epilepsy.These miRNAs also serve as regulators of several muscle regeneration,apoptosis,and inflammatory pathways.This study shows the significance of studying miRNAs in such rare cases in a larger cohort to progress in several intervention treatments utilizing miRNAs.
文摘Duchenne muscular dystrophy (DMD) is a hereditary, progressive muscular disorder inherited in an X-linked recessive pattern (Xp21). It typically manifests in childhood and follows a severe, rapid progression. Only males are affected, while females are usually carriers. Given the genetic nature of DMD, genetic counseling is an essential service for individuals affected by or at risk of carrying the disease. This service provides not only crucial medical information but also psychosocial support and ongoing management for both patients and their families. Since the discovery of the dystrophin gene in 1987, advancements in molecular genetics have made it possible to precisely identify the genes responsible for many neuromuscular diseases. These developments have revolutionized diagnosis, prognosis, and most importantly, genetic counseling, offering significant benefits for both patients and their families. To highlight the significance of these advancements, this case report focuses on a 10-year-old boy (Y) diagnosed with DMD. It emphasizes the familial nature of the disease, with Y’s two brothers, three cousins, and two maternal uncles also affected, underscoring the inherited pattern of DMD. This reinforces the critical need for early intervention, particularly in regions with high consanguinity, such as North Africa and the Middle East, where genetic counseling and prenatal diagnosis are even more essential. Additionally, the report explores the clinical presentation, diagnostic findings, and promising emerging treatments, including RNA-based therapies, which may play a key role in the future management of DMD. In light of the above, this study underscores the importance of prenatal diagnosis and genetic counseling, particularly in regions like Morocco, where consanguinity rates are notably high. By focusing on preconception care and early genetic intervention, families can be better informed, leading to more effective disease management and support.
文摘The online version of the original article can be found at:https://www.sciopen.com/article/10.26599/JOTO.2025.9540018 Erratum to Journal of Otology,2025,20(2):123-126.https://doi.org/10.26599/JOTO.2025.9540018 The surnames and given names of these authors are reversed:Saro-Buendía Miguel,Andresen-Lorca Belén,Pérez-García Alberto,Llópez Carratala Nacho,Carreres Polo Joan,Armengot Carceller Miguel,Perolada Valmaña Jose María.It should be Miguel Saro-Buendía,Belén Andresen-Lorca,Alberto Pérez-García,Nacho Llópez Carratala,Joan Carreres Polo,Miguel Armengot Carceller,Jose María Perolada Valmaña.
文摘Osteoradionecrosis of the temporal bone(ORN-TB)is usually controlled with conservative measures.However,a temporal bone resection may be required in unresponsive cases.The reconstruction of the resulting defects may be challenging because of the radiation damage to regional tissues.As a result,distant free flaps may be an optimal choice.For instance,the gracilis muscular free flap(GMFF)has consistent vascular anatomy and can be used to reconstruct small defects.We report three cases of uncontrolled ORN-TB requiring an extensive temporal bone resection followed by vascularized obliteration with a GMFF.The patients reported complete control of the main otologic symptoms(otorrhea,otalgia,and aural fullness)and optimal functional and aesthetic outcomes.Finally,the patients reported significant improvement in quality of life despite early postoperative complications.To our knowledge,the GMFF had not been used to obliterate temporal bone defects in patients with ORN-TB.
文摘BACKGROUND Duchenne muscular dystrophy(DMD)is a severe lethal X-linked monogenic recessive congenital muscular dystrophy caused by various types of mutations in the dystrophin gene(DG).It is one of the most common human genetic diseases and the most common type of muscular dystrophy,in part because DG is one of the largest protein-coding genes in the human genome with a relatively high risk of being affected by a large palette of mutations.Long-term corticosteroid therapy(LTCT)with deflazacort started at age 4 is the most accessible and used pharmacological therapy for DMD in Romania."Asea®redox supplement"(ARS)is an approved dietary supplement in the European Union.Several studies have shown that it is a very potent selective NRF2 activator,and thus a very potent,albeit indirect,antioxidant,with no toxicity up to high doses,in contrast to LTCT.CASE SUMMARY This paper presents a 3-case series on the effects of ARS in a 4-year-old,5-year-old and 3-year-old boy all with DMD from Bucharest or Slobozia(Romania).This is the first report of this type worldwide.The parents of these boys had refused LTCT.They were treated with relatively high doses of ARS(3-7 mL/kg/day).For two patients,ARS was administered in combination with medium doses of Lcarnitine and omega-3 fatty acids for various intellectual disabilities.Periodic consults and assessments for rhabdomyolysis,medullar and liver toxicity markers(blood count,gamma-glutamyl transferase,aspartate aminotransferase,alanine transaminase,lactate dehydrogenase,creatine kinase,creatine kinase-MB and serum myoglobin)were performed.In vitro studies showed that ARS is a very potent and selective NRF2 activator,and thus a very potent indirect antioxidant.The in vivo studies also support this main pharmacological mechanism of ARS,with no toxicity at high doses,in contrast with much more toxic corticosteroids which are often refused by parents for their children with DMD.Although they were three distinct ages and carried three distinct DG mutations,from the first months of ARS-based treatment,the children responded similarly to ARS.The rhabdomyolysis markers,which were initially very high,significantly dropped,and there was no evidence for medullar and/or hepatic toxicity in any of the 3 patients.CONCLUSIONS ARS has significant indirect antioxidant effects via NRF2 and deserves extensive trials in children with DMD,as an adjuvant to corticoids or as a substitute in DMD patients who refuse corticoids.Future trials should also focus on ARS as an adjuvant in many types of acute/chronic infectious/non-infectious diseases where cellular oxidative stress is involved.
文摘[ Objective] The aim of this experiment was to explore the effects of different rearing modes on muscle histological traits and muscle ten demess and to provide theoretical basis for regulating chicken meat quality. [ Method] The effects of outdoor rearing, indoor rearing and cage rea ring modes on the muscular histological traits and meat tenderness of Hetian chicken at the age of 8 weeks, 12 weeks and 16 weeks were re searched. [Result] The results showed that the breast and thigh muscle fibre diameter and muscle shear force of outdoor rearing chicken were sig nificently higher than that of cage rearing chicken （ P 〈 0.05）, and muscle fibre density was significantly lower than that of cage rearing chicken （ P 〈 0.05）. With aging, the muscle fibre diameter and shear force increased and muscle fibre density decreased （ P 〈 0.05）. The muscle fibre di ameter and shear force of male were higher than that of female. The correlation analysis showed that the breast muscle shear force had a signifi cantly positive relation with fibre diameter and negative relation with fibre density （ P 〈 0.05）, but thigh muscle shear force had an insignificantly pos itive relation with fibre diameter and fibre density. [ Condusion] Muscular histological traits varied in different rearing modes, and the outdoor rearing promoted the muscular fibre development and increased the muscular shear force.
基金Supported by the Science and Technology Supporting Project (Agriculture) of Jiangsu Province (BE2011452)the Special Fund Project of the National Broiler Industry Technology System (CARS-42-G23)a Project Funded by the Priority Academic Program Development of Jiangsu Higher Education Institutions (PAPD)~~
文摘[Objective] This study aimed to investigate the characteristics of deposition of inosine monophosphate （IMP） and intramuscular fat （IMF） in muscles of Jinghai yellow chickens and its crossbred.[Method] The characteristics of IMP and IMF deposition of 112-day-old Jinghai yellow chickens （J×J） and its two different 70-day- old crossbreeds （J×B and B×B） were analyzed. The IMP content in breast muscle and leg muscle were determined by HPLC. [Result] The contents of IMP and cor- rected inosine monophosphate （IMPc） in breast muscle were significantly or ex- tremely significantly higher than that in leg muscle of the chickens in the three groups whether in male or female chickens （P〈0.05 or P〈0.01）. There were no sig- nificant difference in the contents of IMP and IMPc between hens and roosters （P〉 0.05）. The fresh degree of breast muscle and leg muscle was 96,11%-98.16% and 87.22%-93.07%, respectively. And the fresh degree of breast muscle was higher than that of leg muscle. In the three groups, the IMF content in leg muscle was significantly higher than that in breast muscle whether in male or female chickens （P〈0.05）. The contents of IMF in breast muscle and leg muscle were 0.36%-0.75% and 1.84%-2.38%, respectively. The iMP content in breast muscle of chickens in Bx J group was extremely significantly higher than that in breast muscle of chickens in JxJ group （P〈0.01）, but the contents of IMPc and iMF of breast muscle and leg muscle of the chickens in the three groups had no significant difference （P〉0.05）. [Conclusion] To sum up, the freshness and flavor significantly differ between the breast muscle and leg muscle of chickens, but show no significant difference among the three groups.
文摘Objective＇ To study the muscular histological traits and their relationship with meat tenderness in local broilers and provide a theoretical basis for promoting meat quality of broiler. [Methed] The diameter and density of muscle fiber of three local varieties of chicken （Beijing Fatty broil- er, Fujian Hetian broiler and Taining Black broiler） were detected at the age of 8 weeks, 12 weeks and 16 weeks. And the differences in the diame- ter and density of muscle fiber as well as their relationship with meat tenderness were respectively analyzed with SAS software. [ Resultl Fatty broil- er had the smallest muscle fiber diameter while Hetian broiler the largest; Fatty broiler had the highest muscle fiber density while Hetian broiler the lowest Hetian broiler had the highest muscle shear force of leg muscle while Black broiler the lowest （ P 〈0.05） ; Black broiler had the highest mus- cle shear force of breast muscle while Fatty broiler the lowest （P〈0.05）. The correlation analysis showed that the shear force of breast muscle and leg muscle had significantly positive relation with fiber diameter and significantly negative relation with fiber density （ P 〈 0.05）. [ Conclusion] Muscu- lar histological traits varied in different local broilers, and the muscular shear force had significantly relation with fiber diameter and density.
基金Supported by Faculty of Medicine,Ramathibodi Hospital,Mahidol University,Thailand
文摘Visceral myopathy is one of the causes of chronic intestinal pseudo-obstruction. Most cases pathologically reveal degenerative changes of myocytes or muscularis propia atrophy and fibrosis. Abnormal layering of muscularis propria is extremely rare. We report a case of a 9-mo-old Thai male baby who presented with chronic intestinal pseudo-obstruction. Histologic findings showed abnormal layering of small intestinal muscularis propria with an additional oblique layer and aberrant muscularization in serosa. The patient also had a short small bowel without malrotation, brachydactyly,and absence of the 2nd to 4th middle phalanges of both hands. The patient was treated with cisapride and combined parenteral and enteral nutritional support.He had gradual clinical improvement and gained body weight. Subsequently, the parenteral nutrition was discontinued. The previously reported cases are reviewed and discussed.
