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Frontiers in Neurology 2017Multiple system atrophy (MSA) is a rare, adult-onset, rapidly progressive fatal synucleinopathy that primarily affects oligodendroglial cells in the brain. Patients with... (Review)
Review
BACKGROUND
Multiple system atrophy (MSA) is a rare, adult-onset, rapidly progressive fatal synucleinopathy that primarily affects oligodendroglial cells in the brain. Patients with MSA only rarely have visual complaints, but recent studies of the retina using optical coherence tomography (OCT) showed atrophy of the peripapillary retinal nerve fiber layer (RNFL) and to a lesser extent the macular ganglion cell layer (GCL) complex.
METHODS
We performed a literature review and meta-analysis according to the preferred reporting items for systematic reviews and meta-analyses guidelines for studies published before January 2017, identified through PubMed and databases, which reported OCT-related outcomes in patients with MSA and controls. A random-effects model was constructed.
RESULTS
The meta-analysis search strategy yielded 15 articles of which 7 met the inclusion criteria. The pooled difference in the average thickness of the RNFL was -5.48 μm (95% CI, -6.23 to -4.73; < 0.0001), indicating significant thinning in patients with MSA. The pooled results showed significant thinning in all the specific RNFL quadrants, except in the temporal RNFL quadrant, where the thickness in MSA and controls was similar [pooled difference of 1.11 µm (95% CI, -4.03 to 6.26; = 0.67)]. This pattern of retinal damage suggests that MSA patients have preferential loss of retinal ganglion cells projecting to the magnocellular pathway (M-cells), which are mainly located in the peripheral retina and are not essential for visual acuity. Visual acuity, on the other hand, relies mostly on macular ganglion cells projecting to the parvocellular pathway (P-cells) through the temporal portion of the RNFL, which are relatively spared in MSA patients.
CONCLUSION
The retinal damage in patients with MSA differs from that observed in patients with Parkinson disease (PD). Patients with MSA have more relative preservation of temporal sector of the RNFL and less severe atrophy of the macular GCL complex. We hypothesize that in patients with MSA there is predominant damage of large myelinated optic nerve axons like those originating from the M-cells. These large axons may require higher support from oligodendrocytes. Conversely, in patients with PD, P-cells might be more affected.
PubMed: 28596752
DOI: 10.3389/fneur.2017.00206 -
Diagnostics (Basel, Switzerland) Feb 2022Radiofrequency (RF) is a minimally invasive procedure used to interrupt or alter nociceptive pathways for treating musculoskeletal pain. It seems a useful tool to... (Review)
Review
Radiofrequency (RF) is a minimally invasive procedure used to interrupt or alter nociceptive pathways for treating musculoskeletal pain. It seems a useful tool to relieve chronic pain syndromes, even if, to date, solid evidence is still needed about the effectiveness of this therapy. By this systematic review and meta-analysis, we aimed to evaluate the efficacy of RF in treating musculoskeletal pain. PubMed, Medline, Cochrane, and PEDro databases were searched to identify randomized controlled trials (RCTs) presenting the following: patients with chronic musculoskeletal pain as participants; RF as intervention; placebo, anesthetic injection, corticosteroid injection, prolotherapy, conservative treatment, physiotherapy, and transcutaneous electrical nerve stimulation as comparisons; and pain and functioning as outcomes. Continuous random-effect models with standardized mean difference (SMD) were used to compare the clinical outcomes. Overall, 26 RCTs were eligible and included in the systematic review. All of them analyzed the efficacy of RF in four different regions: cervical and lumbar spine, knee, sacroiliac (SI) joint, shoulder. The outcomes measures were pain, disability, and quality of life. A medium and large effect in favor of the RF treatment group (SMD < 0) was found for the shoulder according to the Visual Analogical Scale and for the SI joint according to the Oswestry Disability Index. A small effect in favor of the RF treatment group (SMD > 0) was found for the spine according to the 36-item Short Form Survey. Non-significant SMD was found for the other outcomes. RF represents a promising therapy for the treatment of chronic musculoskeletal pain, especially when other approaches are ineffective or not practicable. Further studies are warranted to better deepen the effectiveness of RF for pain and joint function for each anatomical region of common application.
PubMed: 35328153
DOI: 10.3390/diagnostics12030600 -
Journal of Alzheimer's Disease : JAD 2024The clinical features of posterior cortical atrophy (PCA), a rare condition often caused by Alzheimer's disease, have been recently defined, while little is known about...
BACKGROUND
The clinical features of posterior cortical atrophy (PCA), a rare condition often caused by Alzheimer's disease, have been recently defined, while little is known about its neurophysiological correlates.
OBJECTIVE
To describe neurophysiological alterations of the visual pathway as assessed using visual field test (VF), visual evoked potentials (VEP), and electroretinogram (ERG) in PCA patients.
METHODS
Studies reporting VF, VEPs, and ERG in PCA patients were selected according PRISMA method. Of the 323 articles that emerged from the literature, 17 included the outcomes of interest. To these data, we added those derived from a patient cohort enrolled at our clinic.
RESULTS
The literature review included 140 patients, half of them (50%) presented with homonymous hemianopia or quadrantanopia. VEPs were available in 4 patients (2 normal findings, 1 decreased amplitude, and 1 increased latency) and ERG in 3 patients (substantially normal findings). Our case series included 6 patients, presenting with homonymous lateral hemianopia in 50% and contralateral cortical atrophy. VEPs showed normal amplitude in 66-83% according to the stimulation check, and increased latency in 67% in absence of myelin damage on MRI. Latency was increased in both eyes in 50% and only on one side in the other 50%. Such alterations were observed in patients with more severe and symmetric atrophy. ERG showed normal findings.
CONCLUSIONS
Neurophysiological investigations of the visual pathway in PCA are almost absent in literature. Alterations involve both amplitude and latency and can be also monocular. A multiple-point involvement of the optical pathway can be hypothesized.
Topics: Humans; Visual Pathways; Evoked Potentials, Visual; Neurodegenerative Diseases; Electroretinography; Atrophy
PubMed: 38363610
DOI: 10.3233/JAD-231123 -
International Journal For Quality in... Apr 2018The importance of working toward quality improvement in healthcare implies an increasing interest in analysing, understanding and optimizing process logic and sequences... (Review)
Review
PURPOSE
The importance of working toward quality improvement in healthcare implies an increasing interest in analysing, understanding and optimizing process logic and sequences of activities embedded in healthcare processes. Their graphical representation promotes faster learning, higher retention and better compliance. The study identifies standardized graphical languages and notations applied to patient care processes and investigates their usefulness in the healthcare setting.
DATA SOURCES
Peer-reviewed literature up to 19 May 2016. Information complemented by a questionnaire sent to the authors of selected studies.
STUDY SELECTION
Systematic review conducted in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses statement.
DATA EXTRACTION
Five authors extracted results of selected studies.
RESULTS OF DATA SYNTHESIS
Ten articles met the inclusion criteria. One notation and language for healthcare process modelling were identified with an application to patient care processes: Business Process Model and Notation and Unified Modeling Language™. One of the authors of every selected study completed the questionnaire. Users' comprehensibility and facilitation of inter-professional analysis of processes have been recognized, in the filled in questionnaires, as major strengths for process modelling in healthcare.
CONCLUSION
Both the notation and the language could increase the clarity of presentation thanks to their visual properties, the capacity of easily managing macro and micro scenarios, the possibility of clearly and precisely representing the process logic. Both could increase guidelines/pathways applicability by representing complex scenarios through charts and algorithms hence contributing to reduce unjustified practice variations which negatively impact on quality of care and patient safety.
Topics: Audiovisual Aids; Critical Pathways; Humans; Language; Patient Care; Practice Guidelines as Topic
PubMed: 29346638
DOI: 10.1093/intqhc/mzx197 -
Frontiers in Neuroscience 2022Neuroplasticity following deafness has been widely demonstrated in both humans and animals, but the anatomical substrate of these changes is not yet clear in human...
Neuroplasticity following deafness has been widely demonstrated in both humans and animals, but the anatomical substrate of these changes is not yet clear in human brain. However, it is of high importance since hearing loss is a growing problem due to aging population. Moreover, knowing these brain changes could help to understand some disappointing results with cochlear implant, and therefore could improve hearing rehabilitation. A systematic review and a coordinate-based meta-analysis were realized about the morphological brain changes highlighted by MRI in severe to profound hearing loss, congenital and acquired before or after language onset. 25 papers were included in our review, concerning more than 400 deaf subjects, most of them presenting prelingual deafness. The most consistent finding is a volumetric decrease in gray matter around bilateral auditory cortex. This change was confirmed by the coordinate-based meta-analysis which shows three converging clusters in this region. The visual areas of deaf children is also significantly impacted, with a decrease of the volume of both gray and white matters. Finally, deafness is responsible of a gray matter increase within the cerebellum, especially at the right side. These results are largely discussed and compared with those from deaf animal models and blind humans, which demonstrate for example a much more consistent gray matter decrease along their respective primary sensory pathway. In human deafness, a lot of other factors than deafness could interact on the brain plasticity. One of the most important is the use of sign language and its age of acquisition, which induce among others changes within the hand motor region and the visual cortex. But other confounding factors exist which have been too little considered in the current literature, such as the etiology of the hearing impairment, the speech-reading ability, the hearing aid use, the frequent associated vestibular dysfunction or neurocognitive impairment. Another important weakness highlighted by this review concern the lack of papers about postlingual deafness, whereas it represents most of the deaf population. Further studies are needed to better understand these issues, and finally try to improve deafness rehabilitation.
PubMed: 35418829
DOI: 10.3389/fnins.2022.850245 -
Molecular Cancer Research : MCR Jun 2021Mucosal melanoma is a rare subtype of melanoma. To date, there has been no comprehensive systematic collation and statistical analysis of the aberrations and aggregated... (Meta-Analysis)
Meta-Analysis
Mucosal melanoma is a rare subtype of melanoma. To date, there has been no comprehensive systematic collation and statistical analysis of the aberrations and aggregated frequency of driver events across multiple studies. Published studies using whole genome, whole exome, targeted gene panel, or individual gene sequencing were identified. Datasets from these studies were collated to summarize mutations, structural variants, and regions of copy-number alteration. Studies using next-generation sequencing were divided into the "main" cohort ( = 173; fresh-frozen samples), "validation" cohort ( = 48; formalin-fixed, paraffin-embedded samples) and a second "validation" cohort comprised 104 tumors sequenced using a targeted panel. Studies assessing mutations in , and were summarized to assess hotspot mutations. Statistical analysis of the main cohort variant data revealed , and as significantly mutated genes. and mutations occurred more commonly in lower anatomy melanomas and in the upper anatomy. , and were commonly affected by chromosomal copy loss, while , and were commonly amplified. Further notable genomic alterations occurring at lower frequencies indicated commonality of signaling networks in tumorigenesis, including MAPK, PI3K, Notch, Wnt/β-catenin, cell cycle, DNA repair, and telomere maintenance pathways. This analysis identified genomic aberrations that provide some insight to the way in which specific pathways may be disrupted. IMPLICATIONS: Our analysis has shown that mucosal melanomas have a diverse range of genomic alterations in several biological pathways. VISUAL OVERVIEW: http://mcr.aacrjournals.org/content/molcanres/19/6/991/F1.large.jpg.
Topics: Biomarkers, Tumor; DNA Copy Number Variations; Genetic Predisposition to Disease; Genomics; Humans; Melanoma; Mutation; Signal Transduction; Skin Neoplasms; Whole Genome Sequencing
PubMed: 33707307
DOI: 10.1158/1541-7786.MCR-20-0839 -
Ophthalmology Feb 2023To define the effect of symptom duration on outcomes in people undergoing surgery for idiopathic full-thickness macular holes (iFTMHs) by means of an individual... (Review)
Review
TOPIC
To define the effect of symptom duration on outcomes in people undergoing surgery for idiopathic full-thickness macular holes (iFTMHs) by means of an individual participant data (IPD) study of randomized controlled trials (RCTs). The outcomes assessed were primary iFTMH closure and postoperative best-corrected visual acuity (BCVA).
CLINICAL RELEVANCE
Idiopathic full-thickness macular holes are visually disabling with a prevalence of up to 0.5%. Untreated BCVA is typically reduced to 20/200. Surgery can close holes and improve vision. Symptom duration is thought to affect outcomes with surgery, but the effect is unclear.
METHODS
A systematic review identified eligible RCTs that included adults with iFTMH undergoing vitrectomy with gas tamponade in which symptom duration, primary iFTMH closure, and postoperative BCVA were recorded. Bibliographic databases were searched for articles published between 2000 and 2020. Individual participant data were requested from eligible studies.
RESULTS
Twenty eligible RCTs were identified. Data were requested from all studies and obtained from 12, representing 940 eyes in total. Median symptom duration was 6 months (interquartile range, 3-10). Primary closure was achieved in 81.5% of eyes. There was a linear relationship between predicted probability of closure and symptom duration. Multilevel logistic regression showed each additional month of duration was associated with 0.965 times lower odds of closure (95% confidence interval [CI], 0.935-0.996, P = 0.026). Internal limiting membrane (ILM) peeling, ILM flap use, better preoperative BCVA, face-down positioning, and smaller iFTMH size were associated with increased odds of primary closure. Median postoperative BCVA in eyes achieving primary closure was 0.48 logarithm of the minimum angle of resolution (logMAR) (20/60). Multilevel logistic regression showed for eyes achieving primary iFTMH closure, each additional month of symptom duration was associated with worsening BCVA by 0.008 logMAR units (95% CI, 0.005-0.011, P < 0.001) (i.e., ∼1 Early Treatment Diabetic Retinopathy Study letter loss per 2 months). ILM flaps, intraocular tamponade using long-acting gas, better preoperative BCVA, smaller iFTMH size, and phakic status were also associated with improved postoperative BCVA.
CONCLUSIONS
Symptom duration was independently associated with both anatomic and visual outcomes in persons undergoing surgery for iFTMH. Time to surgery should be minimized and care pathways designed to enable this.
Topics: Adult; Humans; Retinal Perforations; Visual Acuity; Randomized Controlled Trials as Topic; Retina; Vitrectomy; Retrospective Studies; Basement Membrane; Tomography, Optical Coherence; Treatment Outcome
PubMed: 36058348
DOI: 10.1016/j.ophtha.2022.08.028 -
Journal of Huntington's Disease 2019It is well-documented that patients with Huntington's disease (HD) exhibit specific deficits in visual cognition. A less well-documented literature also exists that...
It is well-documented that patients with Huntington's disease (HD) exhibit specific deficits in visual cognition. A less well-documented literature also exists that suggests people with HD experience a number of disease-related changes to more rudimentary sensory visual processing. Here, we review evidence for the effects of HD on the integrity of the early visual pathways in humans along with changes to low-level visual sensitivity. We find evidence for reduced structural and functional integrity of the visual pathways, marked by retinal thinning, reduced VEP amplitude, and cell loss and thinning in visual cortex. We also find evidence of visual perceptual deficits, particularly for colour and motion. We suggest that future studies with well-defined HD and HD-related groups in appropriate numbers that systematically examine the relationship between structural changes to the visual system, basic visual perceptual deficits and disease stage/severity are therefore likely to yield promising results.
Topics: Humans; Huntington Disease; Vision Disorders; Visual Cortex; Visual Pathways
PubMed: 30932892
DOI: 10.3233/JHD-180340 -
Child's Nervous System : ChNS :... Jul 2024Pediatric optic pathway/hypothalamic gliomas (OPHG) pose challenges in treatment due to their location and proximity to vital structures. Surgical resection plays a key... (Meta-Analysis)
Meta-Analysis Review
Pediatric optic pathway/hypothalamic gliomas (OPHG) pose challenges in treatment due to their location and proximity to vital structures. Surgical resection plays a key role in the management of OPHG especially when the tumor exhibits mass effect and causes symptoms. However, data regarding outcomes and complications of surgical resection for OPHG remains heterogenous. The authors performed a systematic review on pediatric OPHG in four databases: PubMed, EMBASE, Cochrane Library, and Google Scholar. We included studies that reported on the visual outcomes and complications of OPHG resection. A meta-analysis was performed and reported per the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) statement. A total of 26 retrospective studies were included. Seven hundred ninety-seven pediatric patients with OPHG undergoing surgical resection were examined. A diagnosis of NF1 was confirmed in 9.7%. Gross total resection was achieved in 36.7%. Intraorbital optic pathway gliomas showed a significantly higher gross total resection rate compared to those located in the chiasmatic/hypothalamic region (75.8% vs. 9.6%). Postoperatively, visual acuity improved in 24.6%, remained unchanged in 68.2%, and worsened in 18.2%. Complications included hydrocephalus (35.4%), anterior pituitary dysfunction (19.6%), and transient diabetes insipidus (29%). Tumor progression post-resection occurred in 12.8%, through a mean follow-up of 53.5 months. Surgical resection remains an essential strategy for treating symptomatic and large pediatric OPHG and can result in favorable vision outcomes in most patients. Careful patient selection is critical. Patients should be monitored for hydrocephalus development postoperatively and followed up to assess for tumor progression and adjuvant treatment necessity.
Topics: Humans; Child; Postoperative Complications; Hypothalamic Neoplasms; Glioma; Optic Nerve Glioma; Neurosurgical Procedures; Treatment Outcome; Child, Preschool
PubMed: 38649470
DOI: 10.1007/s00381-024-06407-7 -
Child's Nervous System : ChNS :... Jun 2024Craniopharyngiomas (CP) are rare brain tumors that often result in visual impairment due to their proximity to the optic pathway. The optimal management approach to... (Review)
Review
OBJECTIVE
Craniopharyngiomas (CP) are rare brain tumors that often result in visual impairment due to their proximity to the optic pathway. The optimal management approach to preserve visual function in these patients remains controversial. We sought to investigate visual outcomes of children with craniopharyngiomas based on treatment modality.
METHODS
A systematic review was performed according to PRISMA guidelines. PubMed, Embase, and Scopus databases were searched in December 2022 for relevant articles. Articles were screened by title/abstract for relevance, then by full-text. Relevant demographic, intervention, and outcome data were extracted from included studies.
RESULTS
A total of 59 studies were included, representing 2655 patients. The overall visual status (OVS) of patients receiving surgery alone was improved in 27.6% of reported outcomes, unchanged in 50.3%, and deteriorated in 22.1%. The OVS for patients receiving radiation alone was improved in 21.1%, unchanged in 42.1%, and deteriorated in 36.8%. Patients receiving surgery plus adjuvant radiotherapy had OVS improvement in 27.4%, unchanged in 63.2%, and deteriorated in 9.4%. Of those receiving intracystic bleomycin, 23.1% had improvement in OVS, 46.2% remained unchanged, and 30.8% deteriorated. Of patients receiving interferon-α, 34.8% improved, 54.5% remained unchanged, and 10.6% deteriorated.
CONCLUSION
OVS most frequently remained unchanged regardless of intervention. The greatest improvement in OVS was seen in those receiving interferon-α or surgery alone. The greatest OVS deterioration was noted with radiation alone. Future standardized, randomized, large-scale studies with focused assessment of ophthalmologic findings are key to further understanding the impact different interventions have on visual outcomes in these children.
Topics: Child; Humans; Craniopharyngioma; Neurosurgical Procedures; Pituitary Neoplasms; Treatment Outcome; Vision Disorders
PubMed: 38416204
DOI: 10.1007/s00381-024-06328-5