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JPRAS Open Mar 2022Macrodactyly is a rare congenital disorder of overgrowth affecting the digits of the upper or lower extremity. Mostly, patients are surgically treated during childhood...
BACKGROUND
Macrodactyly is a rare congenital disorder of overgrowth affecting the digits of the upper or lower extremity. Mostly, patients are surgically treated during childhood to reduce the digit or to stop growth. There are no standardized guidelines for the treatment and follow-up of macrodactyly. Consequently, follow-up may not be regularly scheduled into adulthood.
METHODS
A retrospective, descriptive analysis of patients with the long-term progression of macrodactyly who presented at our tertiary referral hospital between July 2018 and March 2020 was performed. All patients from our local macrodactyly database were screened for progression of macrodactyly since adulthood; this resulted in four patients. The aim of these case series is to highlight the clinical features and disease course at long-term follow-up.
RESULTS
All patients were surgically treated during childhood and showed progression of tissue overgrowth during adult life. All patients developed severe secondary degenerative bone changes in macrodactyly affected digits, such as ankyloses of joints, new bone formation, and bony spurs. Subsequently, tissue overgrowth and degenerative bone changes led to functional problems.
CONCLUSION
Patients with macrodactyly may experience growth during adult life, which may progress to deforming changes. Consequently, patients should be informed about the possible growth, and the progressive growth should be monitored.
PubMed: 34869816
DOI: 10.1016/j.jpra.2021.10.004 -
Techniques in Vascular and... Dec 2020Degenerative lumbar spine disorder (DLSD) is a ubiquitously occurring event that may be induced or accelerated by multiple factors such as from overuse, trauma, genetic... (Review)
Review
Degenerative lumbar spine disorder (DLSD) is a ubiquitously occurring event that may be induced or accelerated by multiple factors such as from overuse, trauma, genetic predisposition, nutrition deficiency, and others. While our understanding of this degenerative disorder is limited, in terms of prevention, the symptoms from DLSD can be significant and may lead to the reduction in the patient's quality of life and loss of work time. In the Global Burden of Disease Study, low back pain was ranked the highest of 291 different conditions, due to the number of years lost to disability, amounting to 83 million disability-adjusted life years lost in 2010. DLSD contains conditions involving disc degeneration, lumbar spinal stenosis, and spondylolisthesis, including symptoms ranging from low back pain to lower extremity radicular pain and weakness. In this issue, we will be discussing treatments for patients suffering with chronic low back pain from endplate disruption, utilizing basivertebral nerve radiofrequency ablation, also known as the INTRACEPT procedure. This issue will also cover minimally invasive lumbar decompression from lumbar spinal stenosis, due to contributory ligamentum flavum hypertrophy, utilizing the percutaneous image-guided lumbar decompression technique known as the MILD procedure.
Topics: Chronic Pain; Decompression, Surgical; Humans; Low Back Pain; Lumbar Vertebrae; Pain Management; Radiofrequency Ablation; Radiography, Interventional; Spinal Diseases; Treatment Outcome
PubMed: 33308584
DOI: 10.1016/j.tvir.2020.100700 -
Molecular Biology Reports Mar 2022Alzheimer's disease (AD) is a progressive neurodegenerative disorder and the most common cause of dementia among the elderly population. AD is accompanied with the... (Review)
Review
INTRODUCTION
Alzheimer's disease (AD) is a progressive neurodegenerative disorder and the most common cause of dementia among the elderly population. AD is accompanied with the dysregulation of specific neurotrophic factors (NTFs) and their receptors, which plays a critical role in neuronal degeneration. NTFs are small proteins with therapeutic potential for human neurodegenerative diseases. These growth factors are categorized into four families: neurotrophins, neurokines, the glial cell line-derived NTF family of ligands, and the newly discovered cerebral dopamine NTF/mesencephalic astrocyte-derived NTF family. NTFs are capable of preventing cell death in degenerative conditions and can increase the neuronal growth and function in these disorders. Nevertheless, the adverse side effects of NTFs delivery and poor diffusion of these factors in the brain restrict the efficacy of NTFs therapy in clinical situations.
MATERIALS AND METHODS
In this review, we focus on the current advances in the use of NTFs to treat AD and summarize previous experimental and clinical studies for supporting the protective and therapeutic effects of these factors.
CONCLUSION
Based on reports, NTFs are considered as new and promising candidates for treating AD and AD-associated cognitive impairment.
Topics: Aged; Alzheimer Disease; Humans; Nerve Growth Factors
PubMed: 34826049
DOI: 10.1007/s11033-021-06968-9 -
Movement Disorders : Official Journal... Jan 2021Parkinson's disease is a progressive and debilitating disorder that has so far eluded attempts to develop disease-modifying treatment. Both epidemiological and genetic... (Review)
Review
Parkinson's disease is a progressive and debilitating disorder that has so far eluded attempts to develop disease-modifying treatment. Both epidemiological and genetic studies support a role of neuroinflammation in the pathophysiology of Parkinson's disease. Postmortem studies and experimental analyses suggest the involvement of both innate and adaptive immunity in the degenerative process. There is also some circumstantial evidence for effects of immune therapies on the disease. In the present article, we review 10 unanswered questions related to neuroinflammatory processes in Parkinson's disease with the goal of stimulating research in the field and accelerating the clinical development of neuroprotective therapies based on anti-inflammatory strategies. © 2020 International Parkinson and Movement Disorder Society.
Topics: Humans; Parkinson Disease; alpha-Synuclein
PubMed: 32357266
DOI: 10.1002/mds.28075 -
Frontiers in Toxicology 2022Neurodegeneration leads to the loss of structural and functioning components of neurons over time. Various studies have related neurodegeneration to a number of... (Review)
Review
Neurodegeneration leads to the loss of structural and functioning components of neurons over time. Various studies have related neurodegeneration to a number of degenerative disorders. Neurological repercussions of neurodegeneration can have severe impacts on the physical and mental health of patients. In the recent past, various neurodegenerative ailments such as Alzheimer's and Parkinson's illnesses have received global consideration owing to their global occurrence. Environmental attributes have been regarded as the main contributors to neural dysfunction-related disorders. The majority of neurological diseases are mainly related to prenatal and postnatal exposure to industrially produced environmental toxins. Some neurotoxic metals, like lead (Pb), aluminium (Al), Mercury (Hg), manganese (Mn), cadmium (Cd), and arsenic (As), and also pesticides and metal-based nanoparticles, have been implicated in Parkinson's and Alzheimer's disease. The contaminants are known for their ability to produce senile or amyloid plaques and neurofibrillary tangles (NFTs), which are the key features of these neurological dysfunctions. Besides, solvent exposure is also a significant contributor to neurological diseases. This study recapitulates the role of environmental neurotoxins on neurodegeneration with special emphasis on major neurodegenerative disorders such as Alzheimer's and Parkinson's disease.
PubMed: 35647576
DOI: 10.3389/ftox.2022.837579 -
Journal of Neural Transmission (Vienna,... Dec 2023Corticobasal degeneration (CBD) is a rare, sporadic, late-onset progressive neurodegenerative disorder of unknown etiology, clinically characterized by an akinetic-rigid... (Review)
Review
Corticobasal degeneration (CBD) is a rare, sporadic, late-onset progressive neurodegenerative disorder of unknown etiology, clinically characterized by an akinetic-rigid syndrome, behavior and personality disorders, language problems (aphasias), apraxia, executive and cognitive abnormalities and limb dystonia. The syndrome is not specific, as clinical features of pathologically proven CBD include several phenotypes. This 4-repeat (4R) tauopathy is morphologically featured by often asymmetric frontoparietal atrophy, ballooned/achromatic neurons containing filamentous 4R-tau aggregates in cortex and striatum, thread-like processes that are more widespread than in progressive supranuclear palsy (PSP), pathognomonic "astroglial plaques", and numerous inclusions in both astrocytes and oligodendroglia ("coiled bodies") in the white matter. Cognitive deficits in CBD are frequent initial presentations before onset of motor symptoms, depending on the phenotypic variant. They predominantly include executive and visuospatial dysfunction, sleep disorders and language deficits with usually preserved memory domains. Neuroimaging studies showed heterogenous locations of brain atrophy, particularly contralateral to the dominant symptoms, with disruption of striatal connections to prefrontal cortex and basal ganglia circuitry. Asymmetric hypometabolism, mainly involving frontal and parietal regions, is associated with brain cholinergic deficits, and dopaminergic nigrostriatal degeneration. Widespread alteration of cortical and subcortical structures causing heterogenous changes in various brain functional networks support the concept that CBD, similar to PSP, is a brain network disruption disorder. Putative pathogenic factors are hyperphosphorylated tau-pathology, neuroinflammation and oxidative injury, but the basic mechanisms of cognitive impairment in CBD, as in other degenerative movement disorders, are complex and deserve further elucidation as a basis for early diagnosis and adequate treatment of this fatal disorder.
Topics: Humans; Corticobasal Degeneration; Cerebral Cortex; Supranuclear Palsy, Progressive; Atrophy; Cognition; tau Proteins
PubMed: 37659990
DOI: 10.1007/s00702-023-02691-w -
Frontiers in Aging Neuroscience 2022Although primary degenerative diseases are the main cause of dementia, a non-negligible proportion of patients is affected by a secondary and potentially treatable... (Review)
Review
Although primary degenerative diseases are the main cause of dementia, a non-negligible proportion of patients is affected by a secondary and potentially treatable cognitive disorder. Therefore, diagnostic tools able to early identify and monitor them and to predict the response to treatment are needed. Transcranial magnetic stimulation (TMS) is a non-invasive neurophysiological technique capable of evaluating and in "real time" the motor areas, the cortico-spinal tract, and the neurotransmission pathways in several neurological and neuropsychiatric disorders, including cognitive impairment and dementia. While consistent evidence has been accumulated for Alzheimer's disease, other degenerative cognitive disorders, and vascular dementia, to date a comprehensive review of TMS studies available in other secondary dementias is lacking. These conditions include, among others, normal-pressure hydrocephalus, multiple sclerosis, celiac disease and other immunologically mediated diseases, as well as a number of inflammatory, infective, metabolic, toxic, nutritional, endocrine, sleep-related, and rare genetic disorders. Overall, we observed that, while in degenerative dementia neurophysiological alterations might mirror specific, and possibly primary, neuropathological changes (and hence be used as early biomarkers), this pathogenic link appears to be weaker for most secondary forms of dementia, in which neurotransmitter dysfunction is more likely related to a systemic or diffuse neural damage. In these cases, therefore, an effort toward the understanding of pathological mechanisms of cognitive impairment should be made, also by investigating the relationship between functional alterations of brain circuits and the specific mechanisms of neuronal damage triggered by the causative disease. Neurophysiologically, although no distinctive TMS pattern can be identified that might be used to predict the occurrence or progression of cognitive decline in a specific condition, some TMS-associated measures of cortical function and plasticity (such as the short-latency afferent inhibition, the short-interval intracortical inhibition, and the cortical silent period) might add useful information in most of secondary dementia, especially in combination with suggestive clinical features and other diagnostic tests. The possibility to detect dysfunctional cortical circuits, to monitor the disease course, to probe the response to treatment, and to design novel neuromodulatory interventions in secondary dementia still represents a gap in the literature that needs to be explored.
PubMed: 36225892
DOI: 10.3389/fnagi.2022.995000 -
Journal of Neural Transmission (Vienna,... Jan 2023Multiple system atrophy (MSA) is a rapidly progressing neurodegenerative disorder of uncertain etiology that is characterized by various combinations of Parkinsonism,... (Review)
Review
Multiple system atrophy (MSA) is a rapidly progressing neurodegenerative disorder of uncertain etiology that is characterized by various combinations of Parkinsonism, autonomic, cerebellar and motor dysfunctions, with poor prognosis. Little is known about modifiable factors, such as depression, that has negative effects on quality of life in MSA. Depression, with an estimated prevalence of about 43%, is among the most common neuropsychiatric disorders in MSA similar to other atypical Parkinsonian disorders, the frequency of which is associated with increased disease progression, disease severity and autonomic dysfunctions. Depression in MSA, like in Parkinson disease, has been related to a variety of pathogenic mechanisms associated with the underlying neurodegenerative process, such as involvement of serotonergic neuron groups in the brainstem, prefrontal cortical dysfunctions, and altered functional fronto-temporal-thalamic connectivities with disturbances of mood related and other essential resting-state brain networks. The pathophysiology and pathogenesis of depression in MSA, as in other degenerative movement disorders, are complex and deserve further elucidation as a basis for adequate treatment to improve the quality of life in this fatal disease.
Topics: Humans; Multiple System Atrophy; Depression; Quality of Life; Parkinsonian Disorders; Parkinson Disease
PubMed: 36348076
DOI: 10.1007/s00702-022-02560-y -
Cells Sep 2022Aging is a complex feature and involves loss of multiple functions and nonreversible phenotypes. However, several studies suggest it is possible to protect against aging... (Review)
Review
Aging is a complex feature and involves loss of multiple functions and nonreversible phenotypes. However, several studies suggest it is possible to protect against aging and promote rejuvenation. Aging is associated with many factors, such as telomere shortening, DNA damage, mitochondrial dysfunction, and loss of homeostasis. The integrity of the cytoskeleton is associated with several cellular functions, such as migration, proliferation, degeneration, and mitochondrial bioenergy production, and chronic disorders, including neuronal degeneration and premature aging. Cytoskeletal integrity is closely related with several functional activities of cells, such as aging, proliferation, degeneration, and mitochondrial bioenergy production. Therefore, regulation of cytoskeletal integrity may be useful to elicit antiaging effects and to treat degenerative diseases, such as dementia. The actin cytoskeleton is dynamic because its assembly and disassembly change depending on the cellular status. Aged cells exhibit loss of cytoskeletal stability and decline in functional activities linked to longevity. Several studies reported that improvement of cytoskeletal stability can recover functional activities. In particular, microtubule stabilizers can be used to treat dementia. Furthermore, studies of the quality of aged oocytes and embryos revealed a relationship between cytoskeletal integrity and mitochondrial activity. This review summarizes the links of cytoskeletal properties with aging and degenerative diseases and how cytoskeletal integrity can be modulated to elicit antiaging and therapeutic effects.
Topics: Cellular Senescence; Cytoskeleton; Dementia; Humans; Telomere Shortening
PubMed: 36139471
DOI: 10.3390/cells11182896 -
International Review of Neurobiology 2022Essential tremor (ET) is a highly prevalent neurologic disease and is the most common of the many tremor disorders. ET is a progressive condition with marked clinical...
Essential tremor (ET) is a highly prevalent neurologic disease and is the most common of the many tremor disorders. ET is a progressive condition with marked clinical heterogeneity, associated with a spectrum of both motor and non-motor features. However, its disease mechanisms remain poorly understood. Much debate has centered on whether ET should be considered a degenerative disorder, with underlying pathological changes in brain causing progressive disease manifestations, or an electric disorder, with overactivity of intrinsically oscillatory motor networks that occur without underlying structural brain abnormalities. Converging data from clinical, neuroimaging and pathological studies in ET now provide considerable evidence for the neurodegenerative hypothesis. A major turning point in this debate is that rigorous tissue-based studies have recently identified a series of structural changes in the ET cerebellum. Most of these pathological changes are centered on the Purkinje cell and connected neuronal populations, which can result in partial loss of Purkinje cells and circuitry reorganizations that would disturb cerebellar function. There is significant overlap in clinical and pathological features of ET with other disorders of cerebellar degeneration, and an increased risk of developing other degenerative diseases in ET. The combined implication of these studies is that ET could be degenerative. The evidence in support of the degenerative hypothesis is presented.
Topics: Cerebellum; Essential Tremor; Humans; Neurons; Purkinje Cells; Tremor
PubMed: 35750370
DOI: 10.1016/bs.irn.2022.02.003