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Indian Journal of Dermatology,... 2021The oral cavity is considered to be a mirror of the body's health, as it reflects the manifestations of various systemic disorders. Most of the oral mucosa is derived... (Review)
Review
The oral cavity is considered to be a mirror of the body's health, as it reflects the manifestations of various systemic disorders. Most of the oral mucosa is derived embryologically from an invagination of ectoderm and thus, like other similar orifices, it may become involved in the disorders that are primarily associated with the skin. Oral submucous fibrosis is one of the commonest precancerous conditions of the oral mucosa involving any part of the oral cavity resulting in tissue scarring, dysphagia and trismus. It is a collagen-related disorder characterized by excessive fibrosis in the oral submucosa, hyalinization and degenerative changes in the muscles. This disease has become a challenging entity for dermatologists due to resemblance of its features to various mucocutaneous conditions. An improper diagnosis can lead to wrong treatment and additional complications. Dermatologists need to be aware of the characteristic features of this disease which can distinguish it from other similar conditions. This review aims to focus on the detailed aspects of oral submucous fibrosis including its historical background, etiological factors, pathogenesis, clinical features, differential diagnosis, investigations, management and future perspectives.
Topics: Cell Transformation, Neoplastic; Diagnosis, Differential; Humans; Oral Submucous Fibrosis; Precancerous Conditions; Prognosis; Terminology as Topic
PubMed: 33969655
DOI: 10.25259/IJDVL_371_20 -
Clinical Interventions in Aging 2008Backward disequilibrium is observed frequently in daily clinical practice. However, there are no epidemiological data concerning this postural disorder. Defined by a... (Review)
Review
Backward disequilibrium is observed frequently in daily clinical practice. However, there are no epidemiological data concerning this postural disorder. Defined by a posterior position of the centre of mass with respect to the base of support, backward disequilibrium is abnormal postural behavior, usually characterized by a posterior trunk tilt in standing and sitting positions, which predisposes subjects to backward falls. Many afflictions whether they are somatic (degenerative, ischemic and traumatic brain lesions), psychosomatic (psychomotor disadaptation syndrome, confinement to bed, nonuse situations) or psychological (depression) can cause backward disequilibrium. A vicious circle of falls, and loss of autonomy can arise and this is the main consequence of backward disequilibrium. Thus, in this paper, we review backward disequilibrium in elderly subjects with regard to the causes, consequences, assessment, and management.
Topics: Accidental Falls; Aged; Aging; Gait; Humans; Postural Balance; Posture; Psychomotor Disorders; Vestibular Diseases; Visual Perception
PubMed: 19281059
DOI: 10.2147/cia.s3811 -
Orphanet Journal of Rare Diseases Nov 2006Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both central and peripheral nervous system, and in some... (Review)
Review
Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both central and peripheral nervous system, and in some case other systems and organs, and characterized by degeneration or abnormal development of cerebellum and spinal cord, autosomal recessive inheritance and, in most cases, early onset occurring before the age of 20 years. This group encompasses a large number of rare diseases, the most frequent in Caucasian population being Friedreich ataxia (estimated prevalence 2-4/100,000), ataxia-telangiectasia (1-2.5/100,000) and early onset cerebellar ataxia with retained tendon reflexes (1/100,000). Other forms ARCA are much less common. Based on clinicogenetic criteria, five main types ARCA can be distinguished: congenital ataxias (developmental disorder), ataxias associated with metabolic disorders, ataxias with a DNA repair defect, degenerative ataxias, and ataxia associated with other features. These diseases are due to mutations in specific genes, some of which have been identified, such as frataxin in Friedreich ataxia, alpha-tocopherol transfer protein in ataxia with vitamin E deficiency (AVED), aprataxin in ataxia with oculomotor apraxia (AOA1), and senataxin in ataxia with oculomotor apraxia (AOA2). Clinical diagnosis is confirmed by ancillary tests such as neuroimaging (magnetic resonance imaging, scanning), electrophysiological examination, and mutation analysis when the causative gene is identified. Correct clinical and genetic diagnosis is important for appropriate genetic counseling and prognosis and, in some instances, pharmacological treatment. Due to autosomal recessive inheritance, previous familial history of affected individuals is unlikely. For most ARCA there is no specific drug treatment except for coenzyme Q10 deficiency and abetalipoproteinemia.
Topics: Abetalipoproteinemia; Abnormalities, Multiple; Adolescent; Adult; Brain; Cerebellar Ataxia; Child; Child, Preschool; Chromosome Aberrations; DNA Repair-Deficiency Disorders; Diagnosis, Differential; Friedreich Ataxia; Genes, Recessive; Humans; Infant; Infant, Newborn; Middle Aged; Refsum Disease; Spinocerebellar Degenerations; Syndrome; Vitamin E Deficiency; Xanthomatosis, Cerebrotendinous; Young Adult
PubMed: 17112370
DOI: 10.1186/1750-1172-1-47 -
Clinical & Experimental Optometry Mar 2011Progressive supranuclear palsy is a rare, degenerative brain disorder and the second most common syndrome in which the patient exhibits 'parkinsonism', that is, a... (Review)
Review
Progressive supranuclear palsy is a rare, degenerative brain disorder and the second most common syndrome in which the patient exhibits 'parkinsonism', that is, a variety of symptoms involving problems with movement. General symptoms include difficulties with gait and balance; the patient walking clumsily and often falling backwards. The syndrome can be difficult to diagnose and visual signs and symptoms can help to separate it from closely related movement disorders such as Parkinson's disease, multiple system atrophy, dementia with Lewy bodies and corticobasal degeneration. A combination of the presence of vertical supranuclear gaze palsy, fixation instability, lid retraction, blepharospasm and apraxia of eyelid opening and closing may be useful visual signs in the identification of progressive supranuclear palsy. As primary eye-care practitioners, optometrists should be able to identify the visual problems of patients with this disorder and be expected to work with patients and their carers to manage their visual welfare.
Topics: Diagnosis, Differential; Fixation, Ocular; Humans; Parkinson Disease; Superior Colliculi; Supranuclear Palsy, Progressive
PubMed: 20629667
DOI: 10.1111/j.1444-0938.2010.00504.x -
Journal of Clinical Medicine Mar 2021Degenerative cervical myelopathy (DCM), earlier referred to as cervical spondylotic myelopathy (CSM), is the most common and serious neurological disorder in the elderly... (Review)
Review
Degenerative cervical myelopathy (DCM), earlier referred to as cervical spondylotic myelopathy (CSM), is the most common and serious neurological disorder in the elderly population caused by chronic progressive compression or irritation of the spinal cord in the neck. The clinical features of DCM include localised neck pain and functional impairment of motor function in the arms, fingers and hands. If left untreated, this can lead to significant and permanent nerve damage including paralysis and death. Despite recent advancements in understanding the DCM pathology, prognosis remains poor and little is known about the molecular mechanisms underlying its pathogenesis. Moreover, there is scant evidence for the best treatment suitable for DCM patients. Decompressive surgery remains the most effective long-term treatment for this pathology, although the decision of when to perform such a procedure remains challenging. Given the fact that the aged population in the world is continuously increasing, DCM is posing a formidable challenge that needs urgent attention. Here, in this comprehensive review, we discuss the current knowledge of DCM pathology, including epidemiology, diagnosis, natural history, pathophysiology, risk factors, molecular features and treatment options. In addition to describing different scoring and classification systems used by clinicians in diagnosing DCM, we also highlight how advanced imaging techniques are being used to study the disease process. Last but not the least, we discuss several molecular underpinnings of DCM aetiology, including the cells involved and the pathways and molecules that are hallmarks of this disease.
PubMed: 33804008
DOI: 10.3390/jcm10061214 -
Neurologia 2022Neurologists refer to numerous "syndromes," consisting of specific combinations of clinical manifestations, following a specific progression pattern, and with the... (Review)
Review
BACKGROUND
Neurologists refer to numerous "syndromes," consisting of specific combinations of clinical manifestations, following a specific progression pattern, and with the support of blood analysis (without genomic-proteomic parameters) and neuroimaging findings (MRI, CT, perfusion SPECT, or F-FDG-PET scans). Neurodegenerative "diseases," on the other hand, are defined by specific combinations of clinical signs and histopathological findings; these must be confirmed by a clinical examination and a histology study or evidence of markers of a specific disorder for the diagnosis to be made. However, we currently know that most genetic and histopathological alterations can result in diverse syndromes. The genetic or histopathological aetiology of each syndrome is also heterogeneous, and we may encounter situations with pathophysiological alterations characterising more than one neurodegenerative disease. Sometimes, specific biomarkers are detected in the preclinical stage.
DEVELOPMENT
We performed a literature review to identify patients whose histopathological or genetic disorder was discordant with that expected for the clinical syndrome observed, as well as patients presenting multiple neurodegenerative diseases, confirming the heterogeneity and overlap between syndromes and diseases. We also observed that the treatments currently prescribed to patients with neurodegenerative diseases are symptomatic.
CONCLUSIONS
Our findings show that the search for disease biomarkers should be restricted to research centres, given the lack of disease-modifying drugs or treatments improving survival. Moreover, syndromes and specific molecular or histopathological alterations should be managed independently of one another, and new "diseases" should be defined and adapted to current knowledge and practice.
Topics: Dementia; Humans; Neurodegenerative Diseases; Neuroimaging; Proteomics; Syndrome
PubMed: 35779868
DOI: 10.1016/j.nrleng.2019.03.027 -
Advances in Clinical and Experimental... Jan 2024Degenerative disease of the spine (DDS) is one of the most common pathological conditions in humans. The clinical presentation of DDS is highly variable, ranging from... (Review)
Review
Degenerative disease of the spine (DDS) is one of the most common pathological conditions in humans. The clinical presentation of DDS is highly variable, ranging from mild pain to severe neurological symptoms. When more severe clinical symptoms are present, it is necessary to use imaging methods, such as magnetic resonance imaging (MRI), to confirm the diagnosis and establish the extent of the disease in order to determine proper treatment. There are several MRI changes which, based on clinicoradiological studies, are believed to be potential sources of pain and other clinical symptoms in DDS, including compression of the nerve root or spinal cord by disc herniations or osteophytes, recent ("active") disc herniation, Modic type 1 degenerative changes of the vertebral bodies, degenerative changes of the vertebral endplates (erosive intervertebral osteochondrosis), marked degenerative changes of the facet joints and ligamenta flava, degenerative spinal canal stenosis, degenerative spondylolisthesis, and Baastrup's disease. The authors analyzed the relationship of the MRI findings mentioned above with clinical symptoms of DDS, as well as the differentiation between DDS and nondegenerative diseases, which can manifest with similar clinical signs. The role of contrast-enhanced MRI and advanced MR techniques (e.g., high field MRI, functional MRI and MR spectroscopy) was also discussed. To establish an appropriate treatment for DDS, it is important to emphasize in the MRI report specific changes, which might be the cause of the pain and other clinical signs, as well as to rule out nondegenerative lesions, especially neoplasms, infections and rheumatoid disorders.
Topics: Humans; Intervertebral Disc Degeneration; Lumbar Vertebrae; Intervertebral Disc Displacement; Magnetic Resonance Imaging; Pain
PubMed: 37549011
DOI: 10.17219/acem/163357 -
Journal of Clinical Sleep Medicine :... Nov 2014Primary mitochondrial diseases are caused by heritable or spontaneous mutations in nuclear DNA or mitochondrial DNA. Such pathological mutations are relatively common in... (Review)
Review
STUDY OBJECTIVES
Primary mitochondrial diseases are caused by heritable or spontaneous mutations in nuclear DNA or mitochondrial DNA. Such pathological mutations are relatively common in humans and may lead to neurological and neuromuscular complication that could compromise normal sleep behavior. To gain insight into the potential impact of primary mitochondrial disease and sleep pathology, we reviewed the relevant English language literature in which abnormal sleep was reported in association with a mitochondrial disease.
DESIGN
We examined publication reported in Web of Science and PubMed from February 1976 through January 2014, and identified 54 patients with a proven or suspected primary mitochondrial disorder who were evaluated for sleep disturbances.
MEASUREMENTS AND RESULTS
Both nuclear DNA and mitochondrial DNA mutations were associated with abnormal sleep patterns. Most subjects who underwent polysomnography had central sleep apnea, and only 5 patients had obstructive sleep apnea. Twenty-four patients showed decreased ventilatory drive in response to hypoxia and/ or hyperapnea that was not considered due to weakness of the intrinsic muscles of respiration.
CONCLUSIONS
Sleep pathology may be an underreported complication of primary mitochondrial diseases. The probable underlying mechanism is cellular energy failure causing both central neurological and peripheral neuromuscular degenerative changes that commonly present as central sleep apnea and poor ventilatory response to hyperapnea. Increased recognition of the genetics and clinical manifestations of mitochondrial diseases by sleep researchers and clinicians is important in the evaluation and treatment of all patients with sleep disturbances. Prospective population-based studies are required to determine the true prevalence of mitochondrial energy failure in subjects with sleep disorders, and conversely, of individuals with primary mitochondrial diseases and sleep pathology.
Topics: Adolescent; Adult; Age Distribution; Comorbidity; Female; Humans; Hypercapnia; Hypoxia; Male; Middle Aged; Mitochondrial Diseases; Polysomnography; Prevalence; Prognosis; Retrospective Studies; Severity of Illness Index; Sex Distribution; Sleep Apnea, Central; Sleep Apnea, Obstructive; Sleep Wake Disorders; Young Adult
PubMed: 25325607
DOI: 10.5664/jcsm.4212 -
Global Cardiology Science & Practice Mar 2017Mitral regurgitation is the second most common valvular disorder requiring surgical intervention worldwide. This review summarizes the current understanding of primary,... (Review)
Review
Mitral regurgitation is the second most common valvular disorder requiring surgical intervention worldwide. This review summarizes the current understanding of primary, degenerative mitral regurgitation with respect to etiology, comprehensive assessment, natural history and management. The new concept of staging of the valvular disorders, newer predictors of adverse and controversy of "watchful waiting" versus "early surgical intervention" for severe, asymptomatic, primary mitral regurgitation are addressed.
PubMed: 31139637
DOI: 10.21542/gcsp.2017.3 -
Journal of Internal Medicine Aug 2016There are more than 30 human proteins whose aggregation appears to cause degenerative maladies referred to as amyloid diseases or amyloidoses. These disorders are named... (Review)
Review
There are more than 30 human proteins whose aggregation appears to cause degenerative maladies referred to as amyloid diseases or amyloidoses. These disorders are named after the characteristic cross-β-sheet amyloid fibrils that accumulate systemically or are localized to specific organs. In most cases, current treatment is limited to symptomatic approaches and thus disease-modifying therapies are needed. Alzheimer's disease is a neurodegenerative disorder with extracellular amyloid β-peptide (Aβ) fibrils and intracellular tau neurofibrillary tangles as pathological hallmarks. Numerous clinical trials have been conducted with passive and active immunotherapy, and small molecules to inhibit Aβ formation and aggregation or to enhance Aβ clearance; so far such clinical trials have been unsuccessful. Novel strategies are therefore required and here we will discuss the possibility of utilizing the chaperone BRICHOS to prevent Aβ aggregation and toxicity. Type 2 diabetes mellitus is symptomatically treated with insulin. However, the underlying pathology is linked to the aggregation and progressive accumulation of islet amyloid polypeptide as fibrils and oligomers, which are cytotoxic. Several compounds have been shown to inhibit islet amyloid aggregation and cytotoxicity in vitro. Future animal studies and clinical trials have to be conducted to determine their efficacy in vivo. The transthyretin (TTR) amyloidoses are a group of systemic degenerative diseases compromising multiple organ systems, caused by TTR aggregation. Liver transplantation decreases the generation of misfolded TTR and improves the quality of life for a subgroup of this patient population. Compounds that stabilize the natively folded, nonamyloidogenic, tetrameric conformation of TTR have been developed and the drug tafamidis is available as a promising treatment.
Topics: Alzheimer Disease; Amyloid; Amyloidosis; Animals; Diabetes Mellitus, Type 2; Humans; Liver Transplantation; Prealbumin
PubMed: 27165517
DOI: 10.1111/joim.12506