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Life (Basel, Switzerland) Dec 2023Sarcoidosis is a chronic granulomatous disease of unknown cause characterized by the presence of non-caseating granulomas. The disease can affect any organ including the... (Review)
Review
Sarcoidosis is a chronic granulomatous disease of unknown cause characterized by the presence of non-caseating granulomas. The disease can affect any organ including the nervous system. Neurosarcoidosis occurs in about 5% patients with sarcoidosis. The clinical presentation of neurosarcoidosis is varied, and it can involve the brain, spinal cord and peripheral nervous system, separately or in different combinations. The diagnosis of neurosarcoidosis is challenging, as biopsies from the nervous system are not readily available. Anti-TNFα agents are becoming one of the cornerstone treatments for neurosarcoidosis. In this case-based review, we discuss two cases of neurosarcoidosis with different clinical presentations. The first patient presented with confusion, while the second presented with walking difficulty and neurogenic bladder. Both patients were treated with methylprednisolone pulse therapy with rapid, but non-complete, improvement. Therefore, infliximab was initiated in both cases with subsequent improvement in the clinical manifestations and imaging findings, emphasizing the effectiveness and safety of infliximab in cases of severe neurosarcoidosis. In conclusion, the goal of neurosarcoidosis management is to prevent organ system damage and minimize the toxic cumulative adverse effects of glucocorticoid use. In this case-based review we discuss the various presentations, the diagnosis and the treatment of neurosarcoidosis.
PubMed: 38255684
DOI: 10.3390/life14010069 -
European Journal of Pediatrics Oct 2023Benign acute childhood myositis (BACM) is a self-limited childhood illness, and viral infections mainly cause it. Clinical and laboratory alterations usually normalize...
Benign acute childhood myositis (BACM) is a self-limited childhood illness, and viral infections mainly cause it. Clinical and laboratory alterations usually normalize rapidly; generally, the only medical intervention required is supportive (hydration and analgesic medication). The low awareness about BACM often led to delayed diagnosis and unneeded ancillary investigations. This study aims to better characterize the clinical and laboratory features of BACM to improve the diagnostic process and inpatient and outpatient management. We conducted a retrospective study selecting all children admitted to Meyer's Children's Hospital-IRCCS (Florence, Italy) with a diagnosis of BACM over the last 5 years, both those visited at Emergency Department (ED) and those admitted to the Pediatric Unit. Clinical, laboratory, and instrumental data were collected from electronic clinical records and analyzed. Overall, sixty-five patients were enrolled; 49 children were visited and discharged directly from ED, whereas 16 were admitted in the Pediatric or Neurologic Wards. The median age was 6.56 years (IQR 4.9-9.1). Male gender (66.1%) and Caucasian ethnicity (70%) were prevalent. Most patients were admitted during winter, and a second peak was found in autumn. All patients had bilateral calf pain, most of them (87.7%) associated with asthenia and refuse to walk (93.8%). Prodromal symptoms were fever (75.3%), cough (32.3%), coryza (26.1%), sore throat (26.1%), and vomiting (15.3%). The median value of CPK was 1827 U/L (IQR 915.5-2462) at peak. CPK median time to normalization was 7 days (IQR 7-8.5) from the nadir. Influenza B was the virus most frequently BACM associated, followed by Influenza A; a novel association with Sars-CoV-2 has been detected. Two patients had pathogenic variants at the Next Generation Sequencing myopathies panel. Conclusion: School-aged children admitted to the hospital with walking difficulty and myalgia, generally after an upper respiratory tract infection with a moderate CPK elevation, should remind at first of BACM. Rapid complaint resolution and biochemical markers normalization will prevent unnecessary tests and inappropriate therapies. What is Known: • BACM is a self-limited syndrome associated with acute infections. Influenza A and B viruses are the main etiological agents, but BACM may be related to many other microorganisms like Parainfluenza virus, Epstein-Barr virus, Cytomegalovirus, Human herpesvirus 6, Respiratory syncytial virus, Coxsackieviruses, Mycoplasma pneumoniae, Streptococcus pyogenes, Legionella, and Salmonella spp. • Clinical and laboratory alterations usually normalize rapidly; generally, the only medical intervention required is supportive (hydration, analgesic medication). Evolution in rhabdomyolysis and kidney damage is possible but rarely reported. What is New: • Sars-CoV-2 could be an emerging possible cause of BACM. During and after the Sars-CoV-2 outbreak, virus infection seasonality has changed, and so has BACM seasonality. • Screening tests for muscular and metabolic disorders are recommended in recurrent myositis and/or cases with marked CPK elevation (≥ 5000 U/L).
Topics: Humans; Child; Male; Influenza, Human; Retrospective Studies; Epstein-Barr Virus Infections; Hospitals, Pediatric; Tertiary Healthcare; Herpesvirus 4, Human; Acute Disease; Myositis; Analgesics
PubMed: 37462800
DOI: 10.1007/s00431-023-05115-9 -
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 -
BioRxiv : the Preprint Server For... Aug 2023Mobile brain imaging with high-density electroencephalography (EEG) can provide insight into the cortical processes involved in complex human walking tasks. While uneven...
Mobile brain imaging with high-density electroencephalography (EEG) can provide insight into the cortical processes involved in complex human walking tasks. While uneven terrain is common in the natural environment and poses challenges to human balance control, there is limited understanding of the supraspinal processes involved with traversing uneven terrain. The primary objective of this study was to quantify electrocortical activity related to parametric variations in terrain unevenness for neurotypical young adults. We used high-density EEG to measure brain activity when thirty-two young adults walked on a novel custom-made uneven terrain treadmill surface with four levels of difficulty at a walking speed tailored to each participant. We identified multiple brain regions associated with uneven terrain walking. Alpha (8 - 13 Hz) and beta (13 - 30 Hz) spectral power decreased in the sensorimotor and posterior parietal areas with increasing terrain unevenness while theta (4 - 8 Hz) power increased in the mid/posterior cingulate area with terrain unevenness. We also found that within stride spectral power fluctuations increased with terrain unevenness. Our secondary goal was to investigate the effect of parametric changes in walking speed (0.25 m/s, 0.5m/s, 0.75 m/s, 1.0 m/s) to differentiate the effects of walking speed from uneven terrain. Our results revealed that electrocortical activities only changed substantially with speed within the sensorimotor area but not in other brain areas. Together, these results indicate there are distinct cortical processes contributing to the control of walking over uneven terrain versus modulation of walking speed on smooth, flat terrain. Our findings increase our understanding of cortical involvement in an ecologically valid walking task and could serve as a benchmark for identifying deficits in cortical dynamics that occur in people with mobility deficits.
PubMed: 37577540
DOI: 10.1101/2023.07.31.551289 -
Research in Gerontological Nursing 2023
Topics: Humans; Mobility Limitation; Nursing Homes; Personal Autonomy
PubMed: 37526631
DOI: 10.3928/19404921-20230629-01 -
Brain : a Journal of Neurology Sep 2023Recessive SH3TC2 variants cause Charcot-Marie-Tooth disease type 4C (CMT4C). CMT4C is typically a sensorimotor demyelinating polyneuropathy, marked by early onset spinal...
Recessive SH3TC2 variants cause Charcot-Marie-Tooth disease type 4C (CMT4C). CMT4C is typically a sensorimotor demyelinating polyneuropathy, marked by early onset spinal deformities, but its clinical characteristics and severity are quite variable. Clear relationships between pathogenic variants and the spectrum of disease manifestations are to date lacking. Gene replacement therapy has been shown to ameliorate the phenotype in a mouse model of CMT4C, emphasizing the need for natural history studies to inform clinical trial readiness. Data, including both genetic information and clinical characteristics, were compiled from the longitudinal, prospective dataset of the Inherited Neuropathy Consortium, a member of the Rare Diseases Clinical Research Network (INC-RDCRN). The Charcot Marie Tooth Neuropathy Score (CMTNS), Examination Score (CMTES) and the Rasch-weighted CMTES (CMTES-R) were used to describe symptoms, neurological examinations and neurophysiological characteristics. Standardized response means were calculated at yearly intervals and a mixed model for repeated measures was used to estimate the change in CMTES and CMTES-R over time. Fifty-six individuals (59% female), median age 27 years (range 2-67 years) with homozygous or compound heterozygous variants in SH3TC2 were identified, including 34 unique variants, 14 of which have not previously been published. Twenty-eight participants had longitudinal data available. While there was no significant difference in the CMTES in those with protein truncating versus non-protein truncating variants, there were significant differences in the mean ulnar nerve compound muscle action potential amplitude, the mean radial sensory nerve action potential amplitude, and in the prevalence of scoliosis, suggesting the possibility of a milder phenotype in individuals with one or two non-protein-truncating variants. Overall, the mean value of the CMTES was 13, reflecting moderate clinical severity. There was a high rate of scoliosis (81%), scoliosis surgery (36%), and walking difficulty (94%) among study participants. The CMTES and CMTES-R appeared moderately responsive to change over extended follow-up, demonstrating a standardized response mean of 0.81 standard deviation units or 0.71 standard deviation units, respectively, over 3 years. Our analysis represents the largest cross-sectional and only longitudinal study to date, of the clinical phenotype of both adults and children with CMT4C. With the promise of upcoming genetic treatments, these data will further define the natural history of the disease and inform study design in preparation for clinical trials.
Topics: Animals; Mice; Female; Male; Scoliosis; Longitudinal Studies; Mutation; Cross-Sectional Studies; Prospective Studies; Genetic Association Studies
PubMed: 36947133
DOI: 10.1093/brain/awad095 -
CNS Neuroscience & Therapeutics Aug 2023To investigate the presence and relationship of temporal speech and gait parameters in patients with postural instability/gait disorder (PIGD) and tremor-dominant (TD)...
AIM
To investigate the presence and relationship of temporal speech and gait parameters in patients with postural instability/gait disorder (PIGD) and tremor-dominant (TD) motor subtypes of Parkinson's disease (PD).
METHODS
Speech samples and instrumented walkway system assessments were acquired from a total of 60 de-novo PD patients (40 in TD and 20 in PIGD subtype) and 40 matched healthy controls. Objective acoustic vocal assessment of seven distinct speech timing dimensions was related to instrumental gait measures including velocity, cadence, and stride length.
RESULTS
Compared to controls, PIGD subtype showed greater consonant timing abnormalities by prolonged voice onset time (VOT) while also shorter stride length during both normal walking and dual task, while decreased velocity and cadence only during dual task. Speaking rate was faster in PIGD than TD subtype. In PIGD subtype, prolonged VOT correlated with slower gait velocity (r = -0.56, p = 0.01) and shorter stride length (r = -0.59, p = 0.008) during normal walking, whereas relationships were also found between decreased cadence in dual task and irregular alternating motion rates (r = -0.48, p = 0.04) and prolonged pauses (r = -0.50, p = 0.03). No correlation between speech and gait was detected in TD subtype.
CONCLUSION
Our findings suggest that speech and gait rhythm disorder share similar underlying pathomechanisms specific for PIGD subtype.
Topics: Humans; Parkinson Disease; Speech; Gait; Tremor; Walking; Gait Disorders, Neurologic; Postural Balance
PubMed: 36942517
DOI: 10.1111/cns.14158 -
The Lancet Regional Health. Western... Oct 2023Sexual activity is important to the holistic health of older adults. However, the sexual lives of older adults are understudied. We aimed to investigate the prevalence...
BACKGROUND
Sexual activity is important to the holistic health of older adults. However, the sexual lives of older adults are understudied. We aimed to investigate the prevalence and correlates of sexual activity and sexual satisfaction among older adults in China.
METHODS
In this multi-centre cross-sectional study, individuals aged 50 years and older were recruited from four regions in China between June 2020 and December 2022. An investigator-administered questionnaire was completed to collect information on socio-demographics, health status (general health and specific health), and sexual health characteristics. Sexual activity (including vaginal, oral, or anal sex) in the past year was treated as sexually active. Sexual satisfaction was measured using a validated five-point Likert scale. Logistic regression was used to assess correlates of sexual activity and sexual satisfaction.
FINDINGS
3001 older adults (1182 women and 1819 men, mean age 60.3 ± 7.8 years) were recruited. Most participants were living in urban areas (1688, 56.2%), in a stable relationship (2531, 84.3%), and satisfied with life (2141, 71.3%). 46.8% of men and 40.7% of women were sexually active. Better self-reported general health status (good: aOR 0.53, 95% CI 0.34-0.82; fair: 0.47, 0.29-0.76; bad or very bad: 0.58, 0.35-0.96; versus very good), no difficulty walking upstairs (0.63, 0.41-0.97), diabetes (0.64, 0.42-0.98), and menopause (0.57, 0.36-0.92), were associated with sexual activity among women. Such an association was not found among men. Among sexually active participants, about three-quarters (men: 73.6%, women: 73.4%) were sexually satisfied. Self-reported general health status (men [good: 0.25, 0.12-0.53; fair: 0.17, 0.08-0.37; bad or very bad: 0.15, 0.06-0.34]; women [good: 0.27, 0.10-0.70; fair: 0.11, 0.04-0.30; bad or very bad: 0.11, 0.04-0.32]), life satisfaction (men: 1.73, 1.22-2.46; women: 2.23, 1.34-3.71) and talking about sexual preferences with a partner (men: 1.77, 1.23-2.56; women: 2.93, 1.69-5.09) were associated with sexual satisfaction.
INTERPRETATION
Older adults who had better health status and talked easily with their partners about their sex life were more likely to report sexual satisfaction. For women, better self-reported general health status and lack of disability were associated with sexual activity. Further research should address measures that improve sexual satisfaction, especially among sexually active older adults.
FUNDING
This study was supported by the Natural Science Foundation of China International/Regional Research Collaboration Project [72061137001] and the Economic and Social Research Council [ES/T014547/1].
PubMed: 37927996
DOI: 10.1016/j.lanwpc.2023.100825 -
Archives of Physical Medicine and... Sep 2023To examine the extent of long-term functional deficits experienced by individuals hospitalized for coronavirus disease 2019 (COVID-19). Specific objectives were to (1)...
OBJECTIVES
To examine the extent of long-term functional deficits experienced by individuals hospitalized for coronavirus disease 2019 (COVID-19). Specific objectives were to (1) describe changes in perceived global health, mobility, participation in daily activities, and employment status from pre-COVID-19 to ≥2 months after infection and (2) evaluate factors associated with change in function.
DESIGN
We conducted a telephone survey (at least 2 months postinfection).
SETTING
Population-based study of adults living at home.
PARTICIPANTS
Adult residents in Laval, Quebec (n=121), who were discharged home posthospitalization for COVID-19.
INTERVENTIONS
Not applicable.
MAIN OUTCOME MEASURES
Participants responded to a standard questionnaire (COVID-19 Yorkshire Rehabilitation Screen) regarding persistent symptoms and limitations in daily functioning. We calculated the prevalence of changes in perceived global health, mobility, personal care, participation in daily activities, and employment, and evaluated associated factors using bivariate analysis and multivariable logistic regression.
RESULTS
Almost all participants (94%) were more fatigued and reported deterioration of their global health status (90%) at least 3 months after infection. The majority were more short of breath and experienced pain and anxiety. The change in outcomes indicates a substantial reduction in those reporting "good" health status, mobility, personal care, and daily activities and less employment. Time since diagnosis was significantly associated with global health, mobility, and participation in daily activities.
CONCLUSIONS
This population-based study suggests that individuals hospitalized for COVID-19 infection have symptoms that affect daily functional activities many months after infection. It is imperative that the effect of infection be better understood so that those affected long term can receive the needed services.
Topics: Adult; Humans; COVID-19; Activities of Daily Living; Post-Acute COVID-19 Syndrome; Health Status; Self Care
PubMed: 36966957
DOI: 10.1016/j.apmr.2023.03.004 -
A Review of Artificial Intelligence-Based Gait Evaluation and Rehabilitation in Parkinson's Disease.Cureus Oct 2023Parkinson's disease (PD) is a long-term degenerative disease of the central nervous system that affects both motor and non-motor functions. In most cases, symptoms... (Review)
Review
Parkinson's disease (PD) is a long-term degenerative disease of the central nervous system that affects both motor and non-motor functions. In most cases, symptoms develop gradually, with non-motor symptoms increasing in frequency as the condition progresses. Tremors, stiffness, slow movements, and difficulty walking are some of the early symptoms. There may be problems with cognition, behavior, sleep, and thinking. Dementia caused by PD becomes more common as the disease progresses. The development of PD is linked to certain sequences of motion that eventually contribute to diminished function. Patients with Parkinson's disease (PWPD) have a sluggish, scattered gait that is accompanied by intermittent freezing of gait (FOG), in which efficient heading briefly pauses. In individuals with severe PD, FOG is a neurological deficit that is related to falls and has an unfavorable impact on the patient's standard of living. Artificial intelligence (AI) and ambient intelligence (AmI) are inextricably linked as intelligence is the ability to gain new information and employ it in novel contexts. The ambience is what accompanies us, while artificial represents something developed by humans. Wearable technologies are being designed to recognize FOG and support patients in the beginning to walk again via periodic cueing. The article proposes a unique automated approach for action description that utilizes AI to carry out a non-intrusive, markerless evaluation in real-time and with full robotics. This computerized method accelerates detection and safeguards from human error. Despite significant improvements brought about by the advent of novel technologies, the available assessment platforms still fail to strike the ideal equilibrium among expenditure, diagnostic precision, velocity, and simplicity. The value of the recommended approach can be seen through a comparison of the gait parameters collected by each of the motion-tracking gadgets.
PubMed: 38021909
DOI: 10.7759/cureus.47118