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BMJ Paediatrics Open Jun 2024The COVID-19 pandemic exacerbated challenges faced by children with cerebral palsy (CP), including limited access to therapy services, financial strain and disruptions...
BACKGROUND
The COVID-19 pandemic exacerbated challenges faced by children with cerebral palsy (CP), including limited access to therapy services, financial strain and disruptions in schooling and social activities. However, the specific long-lasting impacts of the pandemic on families of children with CP in the South African context remain underexplored.
AIM
To explore the long-lasting impact of the COVID-19 pandemic on children with CP in South Africa.
METHOD
A qualitative exploratory approach was used. 14 caregivers of 12 children with CP (aged 4-12) were recruited from various CP-specific schools and organisations in urban Johannesburg, South Africa. Individual semistructured interviews were conducted, and each interview was audio recorded, transcribed verbatim and analysed using inductive thematic analysis.
RESULTS
Children experienced significant changes to their physical and emotional well-being during the pandemic that had long-lasting effects on their added weight gain and activities of daily living. Many children experienced regressions during the lockdown due to the closure of schools and therapy centres. However, increased screen time observed among children with CP during the pandemic yielded unexpected positive outcomes, such as the improvement of technological skills and enhanced confidence through activities like vlogging.
IMPLICATIONS
The pandemic has had long-lasting impacts on children with CP and addressing the multifaceted challenges faced by children with CP and their families in the post-COVID-19 era requires coordinated efforts from all stakeholders to ensure the holistic well-being and inclusion of this vulnerable population. Further research is warranted to assess the long-term impacts of the pandemic and evaluate the effectiveness of interventions aimed at mitigating its effects on this vulnerable population.
Topics: Humans; COVID-19; South Africa; Cerebral Palsy; Child; Caregivers; Female; Male; Child, Preschool; Qualitative Research; SARS-CoV-2; Activities of Daily Living; Pandemics; Adult
PubMed: 38918024
DOI: 10.1136/bmjpo-2024-002617 -
Microbiology Spectrum Jun 2024Mycophenolate mofetil (MMF) is commonly utilized for the treatment of neuromyelitis optica spectrum disorders (NMOSD). However, a subset of patients experience...
Mechanisms of gastrointestinal toxicity in neuromyelitis optica spectrum disorder patients treated with mycophenolate mofetil: insights from a mouse model and human study.
UNLABELLED
Mycophenolate mofetil (MMF) is commonly utilized for the treatment of neuromyelitis optica spectrum disorders (NMOSD). However, a subset of patients experience significant gastrointestinal (GI) adverse effects following MMF administration. The present study aims to elucidate the underlying mechanisms of MMF-induced GI toxicity in NMOSD. Utilizing a vancomycin-treated mouse model, we compiled a comprehensive data set to investigate the microbiome and metabolome in the GI tract to elucidate the mechanisms of MMF GI toxicity. Furthermore, we enrolled 17 female NMOSD patients receiving MMF, who were stratified into non-diarrhea NMOSD and diarrhea NMOSD (DNM) groups, in addition to 12 healthy controls. The gut microbiota of stool samples was analyzed using 16S rRNA gene sequencing. Vancomycin administration prevented weight loss and tissue injury caused by MMF, affecting colon metabolomes and microbiomes. Bacterial β-glucuronidase from Bacteroidetes and Firmicutes was linked to intestinal tissue damage. The DNM group showed higher alpha diversity and increased levels of Firmicutes and Proteobacteria. The β-glucuronidase produced by Firmicutes may be important in causing gastrointestinal side effects from MMF in NMOSD treatment, providing useful information for future research on MMF.
IMPORTANCE
Neuromyelitis optica spectrum disorder (NMOSD) patients frequently endure severe consequences like paralysis and blindness. Mycophenolate mofetil (MMF) effectively addresses these issues, but its usage is hindered by gastrointestinal (GI) complications. Through uncovering the intricate interplay among MMF, gut microbiota, and metabolic pathways, this study identifies specific gut bacteria responsible for metabolizing MMF into a potentially harmful form, thus contributing to GI side effects. These findings not only deepen our comprehension of MMF toxicity but also propose potential strategies, such as inhibiting these bacteria, to mitigate these adverse effects. This insight holds broader implications for minimizing complications in NMOSD patients undergoing MMF therapy.
PubMed: 38916339
DOI: 10.1128/spectrum.04307-23 -
BioRxiv : the Preprint Server For... Jun 2024Genetic variation in the lysosomal and transmembrane protein 106B (TMEM106B) modifies risk for a diverse range of neurodegenerative disorders, especially frontotemporal...
Genetic variation in the lysosomal and transmembrane protein 106B (TMEM106B) modifies risk for a diverse range of neurodegenerative disorders, especially frontotemporal lobar degeneration (FTLD) with progranulin (PGRN) haplo-insufficiency, although the molecular mechanisms involved are not yet understood. Through advances in cryo-electron microscopy (cryo-EM), homotypic aggregates of the C-Terminal domain of TMEM106B (TMEM CT) were discovered as a previously unidentified cytosolic proteinopathy in the brains of FTLD, Alzheimer's disease, progressive supranuclear palsy (PSP), and dementia with Lewy bodies (DLB) patients. While it remains unknown what role TMEM CT aggregation plays in neuronal loss, its presence across a range of aging related dementia disorders indicates involvement in multi-proteinopathy driven neurodegeneration. To determine the TMEM CT aggregation propensity and neurodegenerative potential, we characterized a novel transgenic model expressing the human TMEM CT fragment constituting the fibrillar core seen in FTLD cases. We found that pan-neuronal expression of human TMEM CT in causes neuronal dysfunction as evidenced by behavioral analysis. Cytosolic aggregation of TMEM CT proteins accompanied the behavioral dysfunction driving neurodegeneration, as illustrated by loss of GABAergic neurons. To investigate the molecular mechanisms driving TMEM106B proteinopathy, we explored the impact of PGRN loss on the neurodegenerative effect of TMEM CT expression. To this end, we generated TMEM CT expressing with loss of , the ortholog of human PGRN. Neither full nor partial loss of altered the motor phenotype of our TMEM CT model suggesting TMEM CT aggregation occurs downstream of PGRN loss of function. We also tested the ability of genetic suppressors of tauopathy to rescue TMEM CT pathology. We found that genetic knockout of and resulted in weak to no rescue of proteinopathy phenotypes, indicating that the mechanistic drivers of TMEM106B proteinopathy may be distinct from tauopathy. Taken together, our data demonstrate that TMEM CT aggregation can kill neurons. Further, expression of TMEM CT in neurons provides a useful model for the functional characterization of TMEM106B proteinopathy in neurodegenerative disease.
PubMed: 38915598
DOI: 10.1101/2024.06.11.598478 -
Journal of Indian Association of... 2024
PubMed: 38912011
DOI: 10.4103/jiaps.jiaps_12_24 -
F1000Research 2023Caring for a child with long-term functional limitations can have a negative impact on the physical and psychological well-being of the caregiver. Family-centered care...
BACKGROUND
Caring for a child with long-term functional limitations can have a negative impact on the physical and psychological well-being of the caregiver. Family-centered care (FCC) interventions have the potential to empower caregivers and contribute to their well-being. This systematic review aimed to synthesize existing evidence on the effectiveness of FCC interventions in improving the well-being of caregivers of children with cerebral palsy (CP), and identify the key components of such interventions that are most commonly practiced and deemed effective.
METHODS
This review systematically searched seven databases for randomized controlled trials that evaluated the effectiveness of any FCC intervention on the well-being of caregivers of children with or at risk of CP. We used the Cochrane RoB 2.0 tool to assess risk of bias and Critical Appraisal Skills Programme (CASP) checklist for critical appraisal. Due to high heterogeneity of studies, narrative synthesis was used to summarize the data.
RESULTS
The review consists of 11 studies which were categorized into five sections based on the components of FCC intervention provided in each individual study: 1. Information provision, and Enabling and partnership (n= 5); 2. Information provision, and Respectful and supportive care (n= 1); 3. Enabling and partnership (n= 2); 4. Enabling and partnership, and Respectful and supportive care (n= 2); 5. Information provision, Enabling and partnership and Respectful and supportive care (n= 1). Risk of bias was low in four studies, unclear in two studies, and high in five studies.
CONCLUSION
FCC interventions were found to be effective in improving caregivers' satisfaction with attainment of child and caregiver goals. Evidence from multiple studies does not strongly support the effectiveness of FCC interventions on caregiver's mental health, parenting and personal outcomes. Limited evidence precludes a conclusion on the effectiveness of the components of FCC on well-being of caregivers of children with CP.
Topics: Humans; Cerebral Palsy; Caregivers; Child
PubMed: 38911944
DOI: 10.12688/f1000research.133314.2 -
Revista Brasileira de Ortopedia Jun 2024To identify the location of the Riché-Cannieu anastomosis (RCA) in relation to the Cardinal Kaplan Line (KCL) and the Y line. A total of 20 hands of 10...
To identify the location of the Riché-Cannieu anastomosis (RCA) in relation to the Cardinal Kaplan Line (KCL) and the Y line. A total of 20 hands of 10 recently-deceased adult male cadavers aged between 27 and 66 years were dissected for the investigation of the relationship of the most distal point of the RCA with the KCL and with the Y line, drawn from the axis of the third metacarpal head, following the longitudinal axis of the hand. In 20 limbs, the most distal point of the nerve communication was positioned distally in relation to the KCL. The Y line was positioned on the radial side in relation to the most distal point of the RCA in 14 limbs, and it was positioned on the ulnar side in relation to the Y line in 6 limbs. The crossing between the KCL and the Y line occurred proximal to the RCA in 18 limbs; in 1 hand, it was positioned distal to the intersection between these lines; and in another hand, the KCL was positioned exactly on the RCA. Knowledge of these anatomical relationships can prevent damage to nerve branches and thus also prevent paralysis of intrinsic muscles in surgical procedures in the palm of the hand.
PubMed: 38911877
DOI: 10.1055/s-0044-1785512 -
Frontiers in Immunology 2024Bilateral facial palsy with paresthesia (FDP) is a rare variant of GBS, characterized by simultaneous bilateral facial palsy and paresthesia of the distal limbs....
Bilateral facial palsy with paresthesia (FDP) is a rare variant of GBS, characterized by simultaneous bilateral facial palsy and paresthesia of the distal limbs. Mounting evidence indicates that the presence of anti-GT1a IgG has a pathogenic role as an effector molecule in the development of cranial nerve palsies in certain patients with GBS, whereas anti-GT1a antibody is rarely presented positive in FDP. Here, we report the case of a 33-year-old male diagnosed with FDP presented with acute onset of bilateral facial palsy and slight paresthesias at the feet as the only neurological manifestation. An antecedent infection with no identifiable reason for the fever or skin eruptions was noted in the patient. He also exhibited cerebrospinal fluid albuminocytologic dissociation and abnormal nerve conduction studies. Notably, the testing of specific serum anti-gangliosides showed positive anti-GT1a IgG/IgM Ab. The patient responded well to intravenous immunoglobulin therapy. This case brings awareness to a rare variant of GBS, and provides the first indication that anti-GT1a antibodies play a causative role in the development of FDP. The case also suggests that prompt management with IVIG should be implemented if FDP is diagnosed.
Topics: Humans; Male; Adult; Paresthesia; Facial Paralysis; Autoantibodies; Gangliosides; Immunoglobulins, Intravenous; Immunoglobulin G; Guillain-Barre Syndrome
PubMed: 38911860
DOI: 10.3389/fimmu.2024.1410634 -
Progress in Rehabilitation Medicine 2024Lumbar spondylolysis is a common condition; nonetheless, its cause in patients with spastic cerebral palsy (CP) remains unknown. Furthermore, examination of children...
OBJECTIVES
Lumbar spondylolysis is a common condition; nonetheless, its cause in patients with spastic cerebral palsy (CP) remains unknown. Furthermore, examination of children with CP may not accurately capture complaints, thus causing diseases to be overlooked. Understanding the clinical features and gait patterns of lumbar spondylolysis in CP can aid in diagnosis. This study aimed to identify the clinical features and specific gait patterns of lumbar spondylolysis in ambulatory children with CP.
METHODS
Seventy-three children with CP were divided into two groups according to the presence or absence of lumbar spondylolysis on X-ray and magnetic resonance imaging. Three-dimensional gait analysis (3DGA) was performed to evaluate the kinematic data of the lower limbs.
RESULTS
Eight participants (11.4%) had lumbar spondylolysis primarily affecting the L5 vertebra. The lumbar spondylolysis group had a higher body weight and Body Mass Index, along with a smaller left popliteal angle on the spastic side. In 3DGA, detailed kinematic data indicated significant group differences in the mean angles of hip internal rotation (39.6° vs. 20.2°) during an entire gait cycle. The gait profile score was 19.7° in the lumbar spondylolysis group and 14.9° in the spinal uninvolved group; the difference in gait profile score between the two groups showed a minimal clinically important difference of 2.75.
CONCLUSIONS
The overall gait profile score revealed that the gait of the lumbar spondylolysis group was deteriorated. Excessive internal rotation of the hip during gait might be a contributing factor to lumbar spondylolysis in children with CP.
PubMed: 38911606
DOI: 10.2490/prm.20240023 -
Journal of Neuroendovascular Therapy 2024To report the rare case of a patient with a perianeurysmal cyst following stent-assisted coil embolization of an unruptured vertebral artery aneurysm.
OBJECTIVE
To report the rare case of a patient with a perianeurysmal cyst following stent-assisted coil embolization of an unruptured vertebral artery aneurysm.
CASE PRESENTATION
A 63-year-old woman underwent stent-assisted coil embolization for an unruptured vertebral artery aneurysm embedded in the brainstem (pons). Complete occlusion of the aneurysm was successfully achieved. However, subsequent magnetic resonance imaging (MRI) conducted 8 months after the procedure showed perilesional edematous changes surrounding the aneurysm, and at 20 months, cyst formation was observed in the vicinity of the aneurysm. Progressive enlargement of the cyst eventually led to the development of paralysis and dysphagia, necessitating cyst fenestration surgery. Although postoperative reduction in the cyst size was achieved, the patient experienced complications in the form of aspiration pneumonia and bacterial meningitis, which resulted in a life-threatening condition.
CONCLUSION
Aneurysms embedded in the brain parenchyma should be carefully followed up, recognizing the risk of perianeurysmal cyst formation after coil embolization.
PubMed: 38911484
DOI: 10.5797/jnet.cr.2023-0088 -
Journal of Brachial Plexus and... Jan 2024To better understand the long-term hand and shoulder outcomes of upper brachial plexus birth injuries. We evaluated shoulder and hand function in 32 patients (13...
To better understand the long-term hand and shoulder outcomes of upper brachial plexus birth injuries. We evaluated shoulder and hand function in 32 patients (13 males; 19 females) with a C5/C6 birth injury history). All patients had undergone primary nerve surgery as infants, and 12 underwent a simultaneous shoulder procedure as they presented with a fixed internal rotation contracture of the shoulder. On average, all patients were evaluated and examined 15 years postoperatively. The shoulder function was evaluated using the Miami Shoulder Scale. Hand function was measured by the 9-hole peg test (9-HPT) and statistical analysis included comparison of 9-HPT time against normative data using the Student's -test. The cohort includes 22 right-hand-dominant and 10 left-hand-dominant patients. Mean age at surgery was 10 months; mean age at follow-up was 15 years ± 2 years 2 months. Cumulative shoulder function was "good" or "excellent" (Miami score) in 23 patients. For 9-HPT, 23 out of 32 patients seen had an involved hand with a significant alteration in function. Early nerve surgery in cases of upper brachial plexus birth injuries result in the desired outcome. To ensure timely and targeted therapy for any residual deficits, it is imperative that limitations in hand function among children with an Erb's palsy.
PubMed: 38910845
DOI: 10.1055/s-0044-1787151