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Presse Medicale (Paris, France : 1983) Jun 2024Diabetic neuropathy is a frequent and severe degenerative complication of diabetes. The diagnosis is easily performed in painful symptomatic patients. Sensitivity... (Review)
Review
Diabetic neuropathy is a frequent and severe degenerative complication of diabetes. The diagnosis is easily performed in painful symptomatic patients. Sensitivity disorders responsible for numbness, tingling, and loss of feeling are part and parcel of diabetic foot syndrome and require investigation in view of preventing trophic ulcers. To date, there exists no specific treatment for diabetic neuropathy possibly preventable by careful control of metabolic disorder. Effective management of diabetic patients would make it possible to limit the dramatic consequences of diabetic neuropathy while at the same time acting on other complications.
Topics: Humans; Diabetic Neuropathies; Diabetic Foot
PubMed: 38663725
DOI: 10.1016/j.lpm.2024.104236 -
Praxis Sep 2017
PubMed: 28927369
DOI: 10.1024/1661-8157/a002779 -
Orphanet Journal of Rare Diseases Apr 2017Xeroderma pigmentosum-Cockayne syndrome complex is a very rare multisystem degenerative disorder (Orpha: 220295; OMIM: 278730, 278760, 278780, 610651). Published... (Review)
Review
Xeroderma pigmentosum-Cockayne syndrome complex is a very rare multisystem degenerative disorder (Orpha: 220295; OMIM: 278730, 278760, 278780, 610651). Published information on XP-CS is mostly scattered throughout the literature. We compiled statistics related to symptom prevalence in XP-CS and have written a clinical description of the syndrome. We also drew on clinical practices used in XP and in Cockayne syndrome without XP to aid management of XP-CS.Extensive searches of the literature identified 43 XP-CS patients. The diagnosis had been confirmed with molecular or biochemical methods in 42 of them. Clinical features of each patient were summarized in spreadsheets and summary statistics were generated from this data. XP patients are classified into complementation groups according to the gene that is mutated. There are four groups in XP-CS, and classification was available for 42 patients. Twenty-one were in the XP-G complementation group, 13 in XP-D, 5 in XP-B, and 3 in XP-F. Overall, the clinical features of XP-CS are very similar to those of CS without XP, with the exception of skin cancers in XP-CS. However, one intriguing finding was that cancer incidence was lower in XP-CS compared to XP alone or XP-neurological disorder. The cancer rate in XP-CS was higher than in CS without XP, an unsurprising finding. There is preliminary evidence for the existence of severity groups in XP-CS, as is the case in CS.Although health problems in XP-CS vary both in severity and in when they the first occur, there was overall homogeneity between all complementation groups and putative severity groups. Severely affected patients met fewer milestones and died at younger ages compared to more mildly affected patients.
Topics: Cockayne Syndrome; Humans; Mutation; Xeroderma Pigmentosum
PubMed: 28376890
DOI: 10.1186/s13023-017-0616-2 -
Sub-cellular Biochemistry 2019The world's population is ageing due to increased hygiene and improved medical care. Dizziness and imbalance frequently affect the elderly and is most common among... (Review)
Review
The world's population is ageing due to increased hygiene and improved medical care. Dizziness and imbalance frequently affect the elderly and is most common among individuals over the age of 60. In this age group approximately 30% of the population experience these debilitating symptoms at some point. They contribute to falls and frailty, which often result in hospitalization causing tremendous cost for the health care systems, and increased mortality. To make the matters worse balance disorders are often complex. Physicians face the difficulty of diagnosing the patient with the exact disorder especially since each disorder may manifest differently in each patient. In addition, several treatment options exist, however, with a low level of evidence. This chapter summarizes the underlying degenerative processes of the peripheral as well as the central vestibular system, diagnostic tools, the most common balance disorders in the elderly, and possible treatment options of these disorders.
Topics: Accidental Falls; Aging; Dizziness; Humans; Postural Balance; Vestibular Diseases
PubMed: 30888654
DOI: 10.1007/978-981-13-3681-2_8 -
Archives of Clinical Neuropsychology :... Nov 2017Huntington's disease is an inherited, degenerative brain disease, characterized by involuntary movements, cognitive disorder and neuropsychiatric change. Men and women... (Review)
Review
Huntington's disease is an inherited, degenerative brain disease, characterized by involuntary movements, cognitive disorder and neuropsychiatric change. Men and women are affected equally. Symptoms emerge at around 40 years, although there is wide variation. A rare juvenile form has onset in childhood or adolescence. The evolution of disease is insidious and structural and functional brain changes may be present more than a decade before symptoms and signs become manifest. The earliest site of pathology is the striatum and neuroimaging measures of striatal change correlate with neurological and cognitive markers of disease. Chorea and other aspects of the movement disorder are the most visible aspect of the disease. However, non-motor features have greatest affect on functional independence and quality of life, so require recognition and management. The evidence-base for non-pharmacological treatments in Huntington's disease is currently limited, but recent intervention studies are encouraging.
Topics: Humans; Huntington Disease; Neuropsychology
PubMed: 28961886
DOI: 10.1093/arclin/acx086 -
Circulation Research Feb 2017Cerebrovascular disease typically manifests with stroke, cognitive impairment, or both. Vascular cognitive impairment refers to all forms of cognitive disorder... (Review)
Review
Cerebrovascular disease typically manifests with stroke, cognitive impairment, or both. Vascular cognitive impairment refers to all forms of cognitive disorder associated with cerebrovascular disease, regardless of the specific mechanisms involved. It encompasses the full range of cognitive deficits from mild cognitive impairment to dementia. In principle, any of the multiple causes of clinical stroke can cause vascular cognitive impairment. Recent work further highlights a role of microinfarcts, microhemorrhages, strategic white matter tracts, loss of microstructural tissue integrity, and secondary neurodegeneration. Vascular brain injury results in loss of structural and functional connectivity and, hence, compromise of functional networks within the brain. Vascular cognitive impairment is common both after stroke and in stroke-free individuals presenting to dementia clinics, and vascular pathology frequently coexists with neurodegenerative pathology, resulting in mixed forms of mild cognitive impairment or dementia. Vascular dementia is now recognized as the second most common form of dementia after Alzheimer's disease, and there is increasing awareness that targeting vascular risk may help to prevent dementia, even of the Alzheimer type. Recent advances in neuroimaging, neuropathology, epidemiology, and genetics have led to a deeper understanding of how vascular disease affects cognition. These new findings provide an opportunity for the present reappraisal of vascular cognitive impairment. We further briefly address current therapeutic concepts.
Topics: Brain; Cerebrovascular Disorders; Cognition Disorders; Dementia, Vascular; Humans; Risk Factors
PubMed: 28154105
DOI: 10.1161/CIRCRESAHA.116.308426 -
Cerebellum & Ataxias 2019Eye movements are frequently considered diagnostic markers indicating involvement of the cerebellum. Impaired amplitude of saccades (saccade dysmetria), impaired gaze... (Review)
Review
Eye movements are frequently considered diagnostic markers indicating involvement of the cerebellum. Impaired amplitude of saccades (saccade dysmetria), impaired gaze holding function (horizontal or downbeat nystagmus), and interrupted (choppy) pursuit are typically considered hallmarks of cerebellar disorders. While saccade dysmetria is a frequently considered abnormality, the velocity of saccades are rarely considered part of the constellation of cerebellar involvement. Reduced saccade velocity, frequently called "slow saccades" are typically seen in a classic disorder of the midbrain called progressive supranuclear palsy. It is also traditionally diagnostic of spinocerebellar ataxia type 2. In addition to its common causes, the slowness of vertical saccades is not rare in cerebellar disorders. Frequently this phenomenology is seen in multisystem involvement that substantially involves the cerebellum. In this review we will first discuss the physiological basis and the biological need for high saccade velocities. In subsequent sections we will discuss disorders of cerebellum that are known to cause slowing of saccades. We will then discuss possible pathology and novel therapeutic strategies.
PubMed: 30680221
DOI: 10.1186/s40673-018-0095-9 -
Strabismus Mar 2018A spherical globe is traditionally assumed, but this study employed magnetic resonance imaging (MRI) to demonstrate frequent occurrence of non-spherical staphylomata in...
INTRODUCTION
A spherical globe is traditionally assumed, but this study employed magnetic resonance imaging (MRI) to demonstrate frequent occurrence of non-spherical staphylomata in strabismic patients.
METHODS
High-resolution, surface coil MRI was obtained in multiple image planes in 21 highly myopic subjects (36 eyes) and compared with 17 normal controls (33 eyes). Images were analyzed for axial length, aspect ratio of eye shape, and deflection of muscle paths.
RESULTS
All but two high myopes had strabismus. While myopic globes were generally spherical in 10 myopic eyes including both orthotropic subjects, 15 globes exhibited diffuse posterior staphylomata, 16 equatorial staphylomata, and 4 both posterior and equatorial staphylomata. Equatorial scleral ectasias were positioned to contact and elongate paths of horizontal rectus muscles in some gaze positions. Axial length in myopes averaged 28.8 ± 3.8 (SD) mm and did not differ significantly between regular vs. irregular staphylomata. Globe aspect ratios in the coronal, axial, and sagittal planes were significantly greater than normal in myopes (P < 0.005), but correlated significantly with axial length only in the axial and sagittal planes (P < 0.03). While myopes with irregular staphylomata were older at 57 ± 11 years than subjects with spherical globes at 24 ± 8 years (P < 0.0005), other clinical features were similar.
CONCLUSION
Irregular equatorial or posterior staphylomata are common in strabismic axial high myopes, acting, like "cams" affixed to the normally spherical globe so that they may have no mechanical effect until rotating eccentrically against muscles. After rotational contact, staphylomata would nonlinearly increase muscle tension with further duction. Imaging may be clinically informative about this "knobby eye syndrome."
Topics: Adult; Aged; Axial Length, Eye; Dilatation, Pathologic; Female; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Myopia, Degenerative; Oculomotor Muscles; Scleral Diseases; Strabismus; Syndrome
PubMed: 29279023
DOI: 10.1080/09273972.2017.1418393 -
European Review For Medical and... Oct 2022The purpose of this review is to present the latest innovations and current topics in musculoskeletal diagnosis and interventional imaging, with a focus on degenerative... (Review)
Review
OBJECTIVE
The purpose of this review is to present the latest innovations and current topics in musculoskeletal diagnosis and interventional imaging, with a focus on degenerative and inflammatory diseases.
MATERIALS AND METHODS
In this study, the search was conducted through the online databases PubMed and Google Scholar, including articles published in English in the past 15 years, in order to find existing studies, clinical cases, and reviews on the latest innovations and current topics in degenerative and inflammatory musculoskeletal pathologies.
RESULTS
Imaging plays a pivotal role in the diagnosis and treatment of MSK degenerative and inflammatory disease. In the last few years continuous innovations and technological advances have allowed new clinical applications in the management of MSK disorder. Advanced magnetic resonance techniques, the introduction of fusion imaging techniques and new approaches to infiltrative medicine are revolutionizing the clinical and therapeutic approach to degenerative and inflammatory pathologies. Artificial intelligence also increasingly seeks to be applied in all fields of medicine and radiology with increasingly promising results.
CONCLUSIONS
Imaging modalities undergo continuous innovations and revolutions due to technological advances, with direct repercussions on clinical applications and new therapeutic potential through interventional radiology techniques. In recent years, there have been particular innovations in the context of musculoskeletal imaging of degenerative and inflammatory diseases, both for diagnosis and intervention.
Topics: Humans; Artificial Intelligence; Musculoskeletal Diseases; Radiology; Radiography; Magnetic Resonance Imaging
PubMed: 36263576
DOI: 10.26355/eurrev_202210_29877 -
Best Practice & Research. Clinical... Jun 2020Multiple hereditary exostoses (MHE) and enchondromatosis are rare multifocal benign disorders usually causing skeletal deformities appearing already in childhood. MHE is... (Review)
Review
Multiple hereditary exostoses (MHE) and enchondromatosis are rare multifocal benign disorders usually causing skeletal deformities appearing already in childhood. MHE is a dominant autosomal inherited disorder characterized by multiple osteochondromas (exostoses) growing outward from the metaphyses of long bones as well as from flat bones. They may cause reduced joint motion and pain due to tendon, muscle, and nerve compression. Enchondromatosis (or Ollier's disease) is a noninherited disorder characterized by the presence of multiple intraosseous enchondromas located asymmetrically in the skeleton and with a wide variation regarding location, size, and number ranging from the involvement of a single hand to the involvement of the entire skeleton. It can occur together with soft-tissue hemangiomas in Maffucci's syndrome. Clinical problems caused by the enchondromas are mainly related to skeletal deformities causing malalignment and restricted motion of joint. In both disorders, there is a risk of malignant transformation as well as secondary degenerative joint changes.
Topics: Child; Enchondromatosis; Exostoses, Multiple Hereditary; Humans
PubMed: 32253147
DOI: 10.1016/j.berh.2020.101505