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Biomolecules Apr 2024Mitochondria are the 'powerhouses of cells' and progressive mitochondrial dysfunction is a hallmark of aging in skeletal muscle. Although different forms of exercise...
BACKGROUND
Mitochondria are the 'powerhouses of cells' and progressive mitochondrial dysfunction is a hallmark of aging in skeletal muscle. Although different forms of exercise modality appear to be beneficial to attenuate aging-induced mitochondrial dysfunction, it presupposes that the individual has a requisite level of mobility. Moreover, non-exercise alternatives (i.e., nutraceuticals or pharmacological agents) to improve skeletal muscle bioenergetics require time to be effective in the target tissue and have another limitation in that they act systemically and not locally where needed. Mitochondrial transplantation represents a novel directed therapy designed to enhance energy production of tissues impacted by defective mitochondria. To date, no studies have used mitochondrial transplantation as an intervention to attenuate aging-induced skeletal muscle mitochondrial dysfunction. The purpose of this investigation, therefore, was to determine whether mitochondrial transplantation can enhance skeletal muscle bioenergetics in an aging rodent model. We hypothesized that mitochondrial transplantation would result in sustained skeletal muscle bioenergetics leading to improved functional capacity.
METHODS
Fifteen female mice (24 months old) were randomized into two groups (placebo or mitochondrial transplantation). Isolated mitochondria from a donor mouse of the same sex and age were transplanted into the hindlimb muscles of recipient mice (quadriceps femoris, tibialis anterior, and gastrocnemius complex).
RESULTS
The results indicated significant increases (ranging between ~36% and ~65%) in basal cytochrome oxidase and citrate synthase activity as well as ATP levels in mice receiving mitochondrial transplantation relative to the placebo. Moreover, there were significant increases (approx. two-fold) in protein expression of mitochondrial markers in both glycolytic and oxidative muscles. These enhancements in the muscle translated to significant improvements in exercise tolerance.
CONCLUSIONS
This study provides initial evidence showing how mitochondrial transplantation can promote skeletal muscle bioenergetics in an aging rodent model.
Topics: Animals; Muscle, Skeletal; Energy Metabolism; Aging; Mice; Female; Mitochondria, Muscle; Mitochondria
PubMed: 38672509
DOI: 10.3390/biom14040493 -
Medicine Apr 2024Joubert syndrome (JS) is a rare genetic disorder that presents with various neurological symptoms, primarily involving central nervous system dysfunction. Considering...
RATIONALE
Joubert syndrome (JS) is a rare genetic disorder that presents with various neurological symptoms, primarily involving central nervous system dysfunction. Considering the etiology of JS, peripheral nervous system abnormalities cannot be excluded; however, cases of JS accompanied by peripheral nervous system abnormalities have not yet been reported. Distinct radiological findings on brain magnetic resonance imaging were considered essential for the diagnosis of JS. However, recently, cases of JS with normal or nearly normal brain morphology have been reported. To date, there is no consensus on the most appropriate diagnostic method for JS when imaging-based diagnostic approach is challenging. This report describes the case of an adult patient who exhibited bilateral peroneal neuropathies and was finally diagnosed with JS through genetic testing.
PATIENT CONCERNS AND DIAGNOSIS
A 27-year-old man visited our outpatient clinic due to a gait disturbance that started at a very young age. The patient exhibited difficulty maintaining balance, especially when walking slowly. Oculomotor apraxia was observed on ophthalmic evaluation. During diagnostic workups, including brain imaging and direct DNA sequencing, no conclusive findings were detected. Only nerve conduction studies revealed profound bilateral peroneal neuropathies. We performed whole genome sequencing to obtain a proper diagnosis and identify the gene mutation responsible for JS.
LESSONS
This case represents the first instance of peripheral nerve dysfunction in JS. Further research is needed to explore the association between JS and peripheral nervous system abnormalities. Detailed genetic testing may serve as a valuable tool for diagnosing JS when no prominent abnormalities are detected in brain imaging studies.
Topics: Humans; Male; Adult; Kidney Diseases, Cystic; Cerebellum; Eye Abnormalities; Peroneal Neuropathies; Abnormalities, Multiple; Retina; Magnetic Resonance Imaging
PubMed: 38669389
DOI: 10.1097/MD.0000000000037987 -
The American Journal of Case Reports Apr 2024BACKGROUND Infantile spondylodiscitis is a rare condition with a varied clinical presentation. Microbial infection may not always be identified, but early diagnosis and...
BACKGROUND Infantile spondylodiscitis is a rare condition with a varied clinical presentation. Microbial infection may not always be identified, but early diagnosis and management are required to prevent long-term and irreversible complications, including spinal deformities and vertebral instability. CASE REPORT This report is of a 21-month-old girl with a 3-week history of difficulty in walking and constipation due to L1-L2 spondylodiscitis following a gluteal skin burn. The family had sought medical advice multiple times, but results of all investigations were unremarkable. Her initial spine X-ray was negative but her spine magnetic resonance imaging (MRI) showed a picture suggestive of spondylodiscitis, which then responded to empiric treatment with broad-spectrum antibiotics. The patient showed complete resolution of clinical symptoms and her bowel habits came back to normal after 6 months of complete antibiotics treatment. Her repeat spine MRI showed a significant improvement of her spondylodiscitis. CONCLUSIONS This report has highlighted the importance of rapid diagnosis and management of infantile spondylodiscitis and the challenging approach to treatment when no infectious organism can be identified, as well as the early initiation of antibiotics therapy when appropriate in pediatric patients to avoid serious neurological complications associated with spondylodiscitis. Thus, it is essential to assess children with refusal to walk, gait problems, or back discomfort, especially when they are associated with high inflammatory markers.
Topics: Humans; Female; Discitis; Infant; Anti-Bacterial Agents; Magnetic Resonance Imaging; Early Diagnosis; Lumbar Vertebrae
PubMed: 38669213
DOI: 10.12659/AJCR.943010 -
Toxins Mar 2024The rehabilitation medical team is responsible for the therapeutic management of post-stroke patients and, therefore, for the complex therapeutic approach of spasticity....
INTRODUCTION
The rehabilitation medical team is responsible for the therapeutic management of post-stroke patients and, therefore, for the complex therapeutic approach of spasticity. Considering the generous arsenal at our disposal in terms of both pharmacological treatment, through the possibility of administering botulinum toxin to combat spasticity, and in terms of accurate assessment through developed functional scales such as the GAS (Goal Attainment Scale), one of our purposes is to monitor the parameters that influence the achievement of functional goals set by patients together with the medical team in order to render the patients as close as possible to achieving their proposed functional goals, thus enhancing their quality of life. By assessing and establishing statistical and clinical correlations between the GAS and quantifiable parameters related to the affected post-stroke upper limb, namely degree of spasticity, motor control, pain level and evolution of pain under treatment with BoNT-A (abobotulinum toxin A), and patients' overall response to BoNT-A treatment, we aim to quantify the improvement of the therapeutic management of post-stroke patients with spasticity and develop a more personalized and effective approach to their disability and impairment.
RESULTS AND DISCUSSIONS
The analysis concluded that there were two independent predictors of the Achieved GAS-T score (the study's endpoint parameter) motor control at any level of the upper limb and number of prior BoNT-A injections. The number of prior BoNT-A injections was an independent predictor of Achieved GAS-T score improvement but had no significant influence over Baseline GAS-T score. Enhancement in proximal and intermediate motor control showed a GAS score improvement of 3.3 points and a 0.93-point GAS score improvement for wrist motor control progress. From a separate viewpoint, patients with motor deficit on the left side have shown significantly greater improvement in Changed GAS-T scores by 2.5 points compared to patients with deficits on the right side; however, we note as a study limitation the fact that there was no statistical analysis over the dominant cerebral hemisphere of each patient.
CONCLUSIONS
Improvement in the Achieved GAS-T score means better achievement of patients' goals. Thus, after the BoNT- A intervention, at follow-up evaluation, GAS was found to be directly correlated with improvement in motor control of the affected upper limb. Mobility of the corresponding limb was enhanced by pain decrease during p-ROM (passive range of motion) and by amelioration of spasticity.
MATERIALS AND METHODS
We conducted an observational, non-randomized clinical study on 52 stroke patients, a representative sample of patients with post-stroke spasticity and disability from our neurological rehabilitation clinic, who have been treated and undergone a specific rehabilitation program in our tertiary diagnostic and treatment medical center, including BoNT-A focal treatment for spasticity in the affected upper limb. The primary objective of the study was to assess the influence of abobotulinum toxin A treatment on the Goal Attainment Scale. Secondary objectives of the study included the assessment of BoNT-A treatment efficacy on spasticity with the MAS (Modified Ashworth Scale), pain with the NRS (Numerical Rating Scale), and joint passive range of motion (p-ROM), identifying demographic, clinical, and pharmacological factors that influence the response to BoNT-A treatment, as well as to conduct a descriptive and exploratory analysis of the studied variables.
Topics: Humans; Muscle Spasticity; Stroke; Male; Botulinum Toxins, Type A; Female; Middle Aged; Stroke Rehabilitation; Aged; Treatment Outcome; Neuromuscular Agents; Upper Extremity; Goals; Quality of Life; Adult
PubMed: 38668597
DOI: 10.3390/toxins16040172 -
Geriatrics (Basel, Switzerland) Mar 2024This study investigates the association between the Functional Health Pattern Assessment Screening Tool (FHPAST) and frailty in hospitalized geriatric patients. One...
This study investigates the association between the Functional Health Pattern Assessment Screening Tool (FHPAST) and frailty in hospitalized geriatric patients. One hundred and forty patients (mean age 78.2 years, age range 65-90) were screened for frailty using the Frail Scale during hospitalization in the geriatric unit. Among them, 57 patients were identified as prefrail (40.7%), and 83 were identified as frail (59.3%). A comparative analysis between groups in terms of the FHPAST components covering health risk, general well-being, and health promotion was performed. Correlations between FHAPST components, socio-demographic data, frailty criteria, as well as logistic regression to identify variables that better predict frailty were also sought. Frailty was mainly associated with difficulty urinating, limitations in performing activities of daily living and walking, physical discomfort, less positive feelings in controlling one's own life, lower compliance with recommendations from the healthcare provider, and engagement in seeking healthcare services. Patients with difficulty urinating and walking had a probability of 4.38 times (OR = 4.38, CI 95% [1.20-15.94]), = 0.025) and 65.7 times (OR = 65.7, CI 95% [19.37-223.17], 0.001) higher of being frail rather than prefrail. The relationship between frailty and prefrailty in hospitalized geriatric patients and components of nursing Functional Health Patterns (FHP) has yet to be explored. This study provides evidence of the most prevalent needs of frail geriatric patients in hospital settings.
PubMed: 38667508
DOI: 10.3390/geriatrics9020041 -
Cureus Mar 2024Benign acute childhood myositis (BACM) is a pediatric syndrome characterized by mild self-limiting sudden onset of muscle pain during or following recovery from a viral...
Benign acute childhood myositis (BACM) is a pediatric syndrome characterized by mild self-limiting sudden onset of muscle pain during or following recovery from a viral illness. The case discussed in this report is of an eight-year-old female diagnosed with the common cold after presenting to her primary care physician. Five days later, the patient presented to the emergency department with lower extremity pain. The patient was sent home with supportive care and mild analgesics. Twelve hours later, the patient was seen again in the emergency department with severe bilateral lower extremities pain and difficulty walking. BACM most commonly affects school-age children and is usually caused by influenza A and B. The main goal of this case report is to help primary care and emergency medicine physicians diagnose benign acute childhood myositis as early as possible and treat the condition appropriately.
PubMed: 38659543
DOI: 10.7759/cureus.56887 -
Ciencia & Saude Coletiva Apr 2024The study of the association of social variables with the prevalence of impairments can provide subsidies for more adequate care and health policies for the most needy...
The study of the association of social variables with the prevalence of impairments can provide subsidies for more adequate care and health policies for the most needy people by incorporating social aspects. This article aims to estimate the prevalence of diverse types of impairments, the degree of difficulty, limitations, and the need for help they cause and attest whether this prevalence differ by educational attainment in individuals aged 20 years or older. This is a populational cross-sectional study (2015 Health Survey of São Paulo-ISA Capital). Data from 3184 individuals were analyzed via educational attainment as exposure variable and outcome variables related to visual, hearing, intellectual, and mobility impairments. 19.9% of participants had visual, 7.8%, hearing, 2.7%, intellectual, and 7.4%, mobility impairments. Mobility and intellectual impairments limited participants' daily activities the most, 70.3% and 63.3%, respectively; who, thus, needed the most help: 48.9% and 48.5%, respectively. Lower schooling was associated with a higher prevalence of impairments, greater need for help due to visual and intellectual impairments, and greater limitations due to hearing and visual impairments.
Topics: Humans; Brazil; Cross-Sectional Studies; Adult; Male; Female; Middle Aged; Young Adult; Prevalence; Educational Status; Socioeconomic Factors; Disabled Persons; Health Surveys; Aged; Activities of Daily Living; Mobility Limitation; Health Services Needs and Demand
PubMed: 38655955
DOI: 10.1590/1413-81232024294.16962022 -
Frontiers in Neurology 2024Anti-sulfatide antibodies are key biomarkers for the diagnosis of Guillain-Barré syndrome (GBS). However, case reports on anti-sulfatide antibody-related GBS are rare,...
INTRODUCTION
Anti-sulfatide antibodies are key biomarkers for the diagnosis of Guillain-Barré syndrome (GBS). However, case reports on anti-sulfatide antibody-related GBS are rare, particularly for atypical cases.
CASE DESCRIPTION CASE 1
A 63 years-old man presented with limb numbness and diplopia persisting for 2 weeks, with marked deterioration over the previous 4 days. His medical history included cerebral infarction, diabetes, and coronary atherosclerotic cardiomyopathy. Physical examination revealed limited movement in his left eye and diminished sensation in his extremities. Initial treatments included antiplatelet agents, cholesterol-lowering drugs, hypoglycemic agents, and medications to improve cerebral circulation. Despite this, his condition worsened, resulting in bilateral facial paralysis, delirium, ataxia, and decreased lower limb muscle strength. Treatment with intravenous high-dose immunoglobulin and dexamethasone resulted in gradual improvement. A 1 month follow-up revealed significant neurological sequelae.
CASE DESCRIPTION CASE 2
A 53 years-old woman was admitted for adenomyosis and subsequently experienced sudden limb weakness, numbness, and pain that progressively worsened, presenting with diminished sensation and muscle strength in all limbs. High-dose intravenous immunoglobulin, vitamin B1, and mecobalamin were administered. At the 1 month follow-up, the patient still experienced limb numbness and difficulty walking. In both patients, albuminocytologic dissociation was found on cerebrospinal fluid (CSF) analysis, positive anti-sulfatide antibodies were detected in the CSF, and electromyography indicated peripheral nerve damage.
CONCLUSION
Anti-sulfatide antibody-related GBS can present with Miller-Fisher syndrome, brainstem encephalitis, or a combination of the two, along with severe pyramidal tract damage and residual neurological sequelae, thereby expanding the clinical profile of this GBS subtype. Anti-sulfatide antibodies are a crucial diagnostic biomarker. Further exploration of the pathophysiological mechanisms is necessary for precise treatment and improved prognosis.
PubMed: 38654738
DOI: 10.3389/fneur.2024.1360164 -
BMC Infectious Diseases Apr 2024Necrotising fasciitis (NF) is a life-threatening soft-tissue infection that rapidly destroys the epidermis, subcutaneous tissue, and fascia. Despite their low virulence,...
BACKGROUND
Necrotising fasciitis (NF) is a life-threatening soft-tissue infection that rapidly destroys the epidermis, subcutaneous tissue, and fascia. Despite their low virulence, Lactobacillus spp. can cause NF, and because of its rare incidence, there is limited information about its molecular and clinicopathological characteristics. We report a rare case of NF in a patient with type 2 diabetes mellitus diagnosed on admission and severe obesity due to infection with two types of Lactobacillus spp. that manifested in extensive necrosis.
CASE PRESENTATION
A 48-year-old woman was referred to our hospital with a complaint of difficulty walking due to severe bilateral thigh pain. She presented with mild erythema, swelling, and severe skin pain extending from the pubic region to the groin. The patient was morbidly obese, had renal dysfunction, and had diabetes mellitus diagnosed on admission.; her LRINEC (Laboratory Risk Indicator for Necrotising Fasciitis) score was 9, indicating a high risk of NF. An exploratory surgical incision was made, and NF was diagnosed based on fascial necrosis. Emergent surgical debridement was performed, and cultures of the tissue culture and aspirated fluid/pus revealed two types of Lactobacillus spp.: Lactobacillus salivarius and L. iners. The patient was admitted to the intensive care unit (ICU), where antibiotics were administered and respiratory and circulatory management was performed. Diabetic ketoacidosis was detected, which was treated by controlling the blood glucose level stringently via intravenous insulin infusion. The patient underwent a second debridement on day 11 and a skin suture and skin grafting on day 36. The patient progressed well, was transferred from the ICU to the general ward on day 41, and was discharged unassisted on day 73.
CONCLUSIONS
Lactobacillus spp. are rarely pathogenic to healthy individuals and can scarcely trigger NF. However, these bacteria can cause rare infections such as NF in immunocompromised individuals, such as those with diabetes and obesity, and an early diagnosis of NF is imperative; surgical intervention may be required for the prevention of extensive necrosis. The LRINEC score may be useful for the early diagnosis of NF, even for less pathogenic bacteria such as Lactobacillus.
Topics: Humans; Fasciitis, Necrotizing; Female; Middle Aged; Lactobacillus; Diabetes Mellitus, Type 2; Anti-Bacterial Agents; Debridement; Necrosis; Gram-Positive Bacterial Infections
PubMed: 38649870
DOI: 10.1186/s12879-024-09291-3