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Frontiers in Bioscience (Landmark... Jun 2011Psychotropic treatments such as second generation or atypical antipsychotics are efficacious in a wide spectrum of psychiatric disorders ranging from schizophrenia to... (Review)
Review
Psychotropic treatments such as second generation or atypical antipsychotics are efficacious in a wide spectrum of psychiatric disorders ranging from schizophrenia to depression, bipolar disorder, and autism. These treatments are associated with peripheral metabolic derangements that are often also present in drug-naive patients. Furthermore, altering lipid composition/levels (with omega 3 fatty acids) and ameliorating oxidative toxicities may treat/prevent disease. The above observations are reexamined from the perspective of a myelin-centered model of the human brain. The model proposes that the human brain's extensive myelination required higher metabolic resources that caused evolutionary adaptations resulting in our quadratic (inverted U) myelination trajectory that peaks in the sixth decade of life. It further proposes that optimal brain function depends on exquisite action potential synchronization that myelin makes possible and that myelin's exceptional vulnerability to subtle metabolic/oxidative abnormalities may promote both developmental and degenerative diseases. Available data are integrated herein to suggest that widely used psychotropic treatments have under-appreciated CNS metabolic and neurotransmitter effects on myelination, its plasticity, and repair that may substantially contribute to their mechanisms of action.
Topics: Animals; Bipolar Disorder; Central Nervous System Diseases; Epigenesis, Genetic; Humans; Lipid Metabolism; Mental Disorders; Models, Neurological; Myelin Sheath; Nerve Net; Neuropharmacology; Neurotransmitter Agents; Oligodendroglia; Psychotropic Drugs; Schizophrenia
PubMed: 21622204
DOI: 10.2741/3881 -
Heart (British Cardiac Society) Jun 2018Mitral valve prolapse (MVP) is a common condition that affects 2%-3% of the general population. MVP is thought to include syndromic forms such as Marfan syndrome and... (Review)
Review
Mitral valve prolapse (MVP) is a common condition that affects 2%-3% of the general population. MVP is thought to include syndromic forms such as Marfan syndrome and non-syndromic MVP, which is the most frequent form. Myxomatous degeneration and fibroelastic deficiency (FED) are regarded as two different forms of non-syndromic MVP. While FED is still considered a degenerative disease associated with ageing, frequent familial clustering has been demonstrated for myxomatous MVP. Familial and genetic studies led to the recognition of reduced penetrance and large phenotypic variability, and to the identification of prodromal or atypical forms as a part of the complex spectrum of the disease. Whereas autosomal dominant mode is the common inheritance pattern, an X linked form of non-syndromic MVP was recognised initially, related to Filamin-A gene, encoding for a cytoskeleton protein involved in mechanotransduction. This identification allowed a comprehensive description of a new subtype of MVP with a unique association of leaflet prolapse and paradoxical restricted motion in diastole. In autosomal dominant forms, three loci have been mapped to chromosomes 16p11-p12, 11p15.4 and 13q31-32. Although deciphering the underlying genetic defects is still a work in progress, mutations have been identified (11p15.4) in typical myxomatous disease, highlighting new molecular pathways and pathophysiological mechanisms leading to the development of MVP. Finally, a large international genome-wide association study demonstrated the implication of frequent variants in MVP development and opened new directions for future research. Hence, this review focuses on phenotypic, genetic and pathophysiological aspects of MVP.
Topics: Animals; Genetic Markers; Genetic Predisposition to Disease; Genome-Wide Association Study; Humans; Mitral Valve; Mitral Valve Prolapse; Mutation; Phenotype; Prognosis; Risk Factors; Syndrome
PubMed: 29352010
DOI: 10.1136/heartjnl-2017-312420 -
Journal of Neurochemistry Feb 2023Parkinson's disease (PD) and other neurodegenerative parkinsonisms are characterised by loss of striatal dopaminergic neurons. Dopamine functional deficits can be... (Review)
Review
Parkinson's disease (PD) and other neurodegenerative parkinsonisms are characterised by loss of striatal dopaminergic neurons. Dopamine functional deficits can be measured in vivo using positron emission tomography (PET) and single-photon emission computed tomography (SPECT) ligands assessing either presynaptic (e.g. dopamine synthesis and storage, transporter density) or postsynaptic terminals (i.e. D2 receptors availability). Nuclear medicine imaging thus helps the clinician to separate degenerative forms of parkinsonism with other neurological conditions, e.g. essential tremor or drug-induced parkinsonism. With the present study, we aimed at summarizing the current evidence about dopaminergic molecular imaging in the diagnostic evaluation of PD, atypical parkinsonian syndromes and dementia with Lewy bodies (DLB), as well as its potential to distinguish these conditions and to estimate disease progression. In fact, PET/SPECT methods are clinically validated and have been increasingly integrated into diagnostic guidelines (e.g. for PD and DLB). In addition, there is novel evidence on the classification properties of extrastriatal signal. Finally, dopamine imaging has an outstanding potential to detect neurodegeneration at the premotor stage, including REM-sleep behavior disorder and olfactory loss. Therefore, inclusion of subjects at an early stage for clinical trials can largely benefit from a validated in vivo biomarker such as presynaptic dopamine pathways PET/SPECT assessment.
Topics: Humans; Dopamine; Dopaminergic Imaging; Parkinsonian Disorders; Parkinson Disease; Tomography, Emission-Computed, Single-Photon; Dopamine Plasma Membrane Transport Proteins
PubMed: 34935143
DOI: 10.1111/jnc.15561 -
Acta Bio-medica : Atenei Parmensis Dec 2018Although peripheral neuropathies in children are often of genetic origin, acquired causes should be carefully looked for and ruled out also in the pediatric age.... (Review)
Review
BACKGROUND AND AIM OF THE WORK
Although peripheral neuropathies in children are often of genetic origin, acquired causes should be carefully looked for and ruled out also in the pediatric age. Gastroenterological disorders can be complicated by peripheral neuropathy as a result of micronutrients deficiency, drug toxicity or because of shared pathophysiological mechanisms.
METHODS
In this descriptive review we sought to give an overview on the most relevant clinical conditions in which peripheral neuropathies are associated with gastro-intestinal disorders or symptoms.
RESULTS
We describe the clinical, demographic, and electrophysiological features of peripheral neuropathy in three main clinical scenarios: in the context of common gastroenterological disorders (inflammatory bowel and celiac disease), in the context of micronutrients deficiencies arising from malabsorption irrespective of etiology, and in a rare degenerative mitochondrial disorder, mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) disorder.
CONCLUSIONS
The association between gastrointestinal and peripheral nervous system symptoms is probably still underrecognized but has to be actively sought, in order to provide prompt diagnosis resulting in optimal care and long-term management with the aim to improve quality of life and, at least in some conditions, try to impact on prognosis.
Topics: Antibodies, Monoclonal; Antirheumatic Agents; Campylobacter Infections; Celiac Disease; Child; Comorbidity; Cyclosporine; Diet, Gluten-Free; Electrophysiology; Gastrointestinal Diseases; Genetic Predisposition to Disease; Guillain-Barre Syndrome; Humans; Inflammatory Bowel Diseases; Intestinal Pseudo-Obstruction; Malnutrition; Micronutrients; Muscular Dystrophy, Oculopharyngeal; Ophthalmoplegia; Peripheral Nervous System Diseases; Quality of Life; Thalidomide
PubMed: 30561392
DOI: 10.23750/abm.v89i9-S.7956 -
Medicine Jul 2023As a multifactorial degenerative disease, Parkinson disease (PD) causes tremor, gait rigidity, and hypokinesia, which interfere with normal life. Because the disease is... (Review)
Review
As a multifactorial degenerative disease, Parkinson disease (PD) causes tremor, gait rigidity, and hypokinesia, which interfere with normal life. Because the disease is usually discovered in the late stage of complete degeneration of neurons, it can greatly delay treatment and even eventually lead to death. Therefore, the diagnosis of this disease is very challenging, and it is gratifying that substantial progress has been made in the development of optical coherence tomography (OCT) as a diagnostic biomarker for this disease, and genetic and imaging tests have become part of routine protocols in clinical practice. In the cognition of traditional Chinese medicine (TCM), this disease belongs to deficiency in origin and excess in superficiality, which is always caused by deficiency of liver and kidney, deficiency of qi and blood, and is closely related to wind, fire, phlegm and blood stasis. A large number of studies have shown that TCM can effectively treat motor and non-motor symptoms of PD, combat oxidative stress and reduce inflammatory response, and improve the quality of life of patients. Based on the pathophysiological mechanism of PD, this paper discusses the treatment of PD by TCM acupuncture combined with medicine based on syndrome differentiation.
Topics: Humans; Parkinson Disease; Quality of Life; Medicine, Chinese Traditional; Acupuncture Therapy; Syndrome
PubMed: 37505150
DOI: 10.1097/MD.0000000000034278 -
Journal of Korean Neurosurgical Society Mar 2017Lumbar degenerative kyphosis (LDK) is a subgroup of the flat-back syndrome and is most commonly caused by unique life styles, such as a prolonged crouched posture during... (Review)
Review
Lumbar degenerative kyphosis (LDK) is a subgroup of the flat-back syndrome and is most commonly caused by unique life styles, such as a prolonged crouched posture during agricultural work and performing activities of daily living on the floor. Unfortunately, LDK has been used as a byword for degenerative sagittal imbalance, and this sometimes causes confusion. The aim of this review was to evaluate the exact territory of LDK, and to introduce another appropriate term for degenerative sagittal deformity. Unlike what its name suggests, LDK does not only include sagittal balance disorder of the lumbar spine and kyphosis, but also sagittal balance disorder of the whole spine and little lordosis of the lumbar spine. Moreover, this disease is closely related to the occupation of female farmers and an outdated Asian life style. These reasons necessitate a change in the nomenclature of this disorder to prevent misunderstanding. We suggest the name "primary degenerative sagittal imbalance" (PDSI), which encompasses degenerative sagittal misalignments of unknown origin in the whole spine in older-age patients, and is associated with back muscle wasting. LDK may be regarded as a subgroup of PDSI related to an occupation in agriculture. Conservative treatments such as exercise and physiotherapy are recommended as first-line treatments for patients with PDSI, and surgical treatment is considered only if conservative treatments failed. The measurement of spinopelvic parameters for sagittal balance is important prior to deformity corrective surgery. LDK can be considered a subtype of PDSI that is more likely to occur in female farmers, and hence the use of LDK as a global term for all degenerative sagittal imbalance disorders is better avoided. To avoid confusion, we recommend PDSI as a newer, more accurate diagnostic term instead of LDK.
PubMed: 28264231
DOI: 10.3340/jkns.2016.0607.001 -
Frontiers in Aging Neuroscience 2014Ageing disorders can be defined as the progressive and cumulative outcome of several defective cellular mechanisms as well as metabolic pathways, consequently resulting... (Review)
Review
Ageing disorders can be defined as the progressive and cumulative outcome of several defective cellular mechanisms as well as metabolic pathways, consequently resulting in degeneration. Environment plays an important role in its pathogenesis. In contrast, developmental disorders arise from inherited mutations and usually the role of environmental factors in development of disease is minimal. Age related macular degeneration (AMD) is one such retinal degenerative disorder which starts with the progression of age. Metabolism plays an important role in initiation of such diseases of ageing. Cholesterol metabolism and their oxidized products like 7-ketocholesterol have been shown to adversely impact retinal pigment epithelium (RPE) cells. These molecules can initiate mitochondrial apoptotic processes and also influence the complements factors and expression of angiogenic proteins like VEGF etc. In this review we highlight why and how AMD is an ageing disorder and not a developmental disease substantiated by disrupted cholesterol metabolism common to several age related diseases.
PubMed: 25071560
DOI: 10.3389/fnagi.2014.00151 -
Biological Psychiatry Mar 2024Transcranial magnetic stimulation (TMS) has emerged as a pivotal noninvasive technique for investigating cortical excitability and plasticity across the lifespan,... (Review)
Review
Transcranial magnetic stimulation (TMS) has emerged as a pivotal noninvasive technique for investigating cortical excitability and plasticity across the lifespan, offering valuable insights into neurodevelopmental and neurodegenerative processes. In this review, we explore the impact of TMS applications on our understanding of normal development, healthy aging, neurodevelopmental disorders, and adult-onset neurodegenerative diseases. By presenting key developmental milestones and age-related changes in TMS measures, we provide a foundation for understanding the maturation of neurotransmitter systems and the trajectory of cognitive functions throughout the lifespan. Building on this foundation, the paper delves into the pathophysiology of neurodevelopmental disorders, including autism spectrum disorder, attention-deficit/hyperactivity disorder, Tourette syndrome, and adolescent depression. Highlighting recent findings on altered neurotransmitter circuits and dysfunctional cortical plasticity, we underscore the potential of TMS as a valuable tool for unraveling underlying mechanisms and informing future therapeutic interventions. We also review the emerging role of TMS in investigating and treating the most common adult-onset neurodegenerative disorders and late-onset depression. By outlining the therapeutic applications of noninvasive brain stimulation techniques in these disorders, we discuss the growing body of evidence supporting their use as therapeutic tools for symptom management and potentially slowing disease progression. The insights gained from TMS studies have advanced our understanding of the underlying mechanisms in both healthy and disease states, ultimately informing the development of more targeted diagnostic and therapeutic strategies for a wide range of neuropsychiatric conditions.
Topics: Adolescent; Humans; Transcranial Magnetic Stimulation; Longevity; Autism Spectrum Disorder; Neurodegenerative Diseases; Neurotransmitter Agents
PubMed: 37517703
DOI: 10.1016/j.biopsych.2023.07.012 -
Journal of Oral Biology and... 2023Temporomandibular disorders (TMDs) are a group of conditions that cause pain and dysfunction in the temporomandibular joint (TMJ) and muscles that control mandibular... (Review)
Review
Temporomandibular disorders (TMDs) are a group of conditions that cause pain and dysfunction in the temporomandibular joint (TMJ) and muscles that control mandibular movement. In most cases, the etiology is unclear and is considered multifactorial. Recent research suggests that some forms of TMD could be associated with specific TMJ morphological characteristics. This study aims to provide a review of the reported anatomical and degenerative morphological condylar characteristics of subjects with a clinical diagnosis of TMD as described with the use of CBCT imaging, as well as the detection of potential predisposing anatomical factors. This review was developed and reported in accordance with the PRISMA-ScR Checklist. A comprehensive search was performed in five databases. Reports were screened by two independent reviewers based on preselected inclusion and exclusion criteria. 45 studies were included in this review. The most frequently reported degenerative changes associated with TMD were condylar surface erosion, flattening, osteophytes, and sclerosis. Anatomical characteristics included a small condylar size and a posterior position of the condylar head in the TMJ. The anterosuperior area of the condylar head appears to be the most frequently affected. More studies are required to determine potential specific predisposing anatomical characteristics.
PubMed: 38028230
DOI: 10.1016/j.jobcr.2023.10.004 -
Clinical Cardiology Sep 1994Hundreds died and thousands were poisoned by rapeseed oil adulterated with aniline and sold illegally in Spain in 1981. The clinical manifestations, now known as the... (Review)
Review
Hundreds died and thousands were poisoned by rapeseed oil adulterated with aniline and sold illegally in Spain in 1981. The clinical manifestations, now known as the toxic oil syndrome, include pulmonary hypertension and right ventricular hypertrophy plus widespread vascular and neural lesions in other organs. Many of the late deaths ended with a scleroderma-like illness. Because scleroderma involves the heart, an examination was made of the small and large coronary arteries, the neural structures, and the conduction system from 11 victims dying with the toxic oil syndrome. Dense fibrosis, atrionodal junctional hemorrhages, and cystic degeneration of the sinus nodes were present. Small and large coronary arteries exhibited focal fibromuscular dysplasia and a proliferative cystic myointimal degeneration. This latter abnormality was associated with sloughing of the inner wall and embolization of the detached fragment downstream in the same coronary artery. Every heart had many degenerative lesions within nerves, ganglia, and the coronary chemoreceptor. Based upon observations by others with experimental feeding of rapeseed oil containing either high or low erucic acid, it is suggested that this oil must remain a major suspected cause of the toxic oil syndrome, particularly in conjunction with some as yet unexplained facilitative influence by oleoanilids. If this is so, it is important to reexamine the widely recommended use of any rapeseed oil product as a suitable food for humans or animals.
Topics: Brassica; Fatty Acids, Monounsaturated; Humans; Hypertension, Pulmonary; Hypertrophy, Right Ventricular; Plant Oils; Rapeseed Oil; Scleroderma, Systemic; Spain; Syndrome
PubMed: 8001309
DOI: 10.1002/clc.4960170902