Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0013421 (dystonia)
 8,418 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

BACKGROUND Ischemic fasciitis is a rare condition that occurs in debilitated and immobilized individuals, usually overlying bony protuberances. Because the histology shows a pseudosarcomatous proliferation of atypical fibroblasts, and because the lesion can increase in size, ischemic fasciitis can mimic sarcoma. Beta-propeller protein-associated neurodegeneration (BPAN) arises in infancy and is due to mutations in the WDR45 gene on the X chromosome. BPAN results in progressive symptoms of dystonia, Parkinsonism, and dementia once the individual reaches adolescence or early adulthood, and is usually fatal before old age. A case of ischemic fasciitis of the buttock is presented in an adult woman with BPAN. CASE REPORT A 40-year-old woman with BPAN and symptoms of mental and physical deterioration, had become increasingly wheelchair-dependent and presented with a mass in her buttock that had been increasing in size for two months. Computed tomography (CT) imaging showed an ill-defined subcutaneous lesion between the dermis and the gluteal muscle, which was suspicious for malignancy. A needle biopsy of the mass was performed. The histology examination showed benign ischemic fasciitis. A follow-up CT scan performed 3.5 months after identification of the lesion showed that it had decreased in size. CONCLUSIONS Ischemic fasciitis is a rare condition that is associated with immobility. Because BPAN is a neurodegenerative disease that can cause immobility, a history of BPAN in patients of all ages may be associated with an increased risk of developing ischemic fasciitis. The correct diagnosis is essential, as ischemic fasciitis, although benign, can mimic malignancy.
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PMID:Ischemic Fasciitis of the Left Buttock in a 40-Year-Old Woman with Beta-Propeller Protein-Associated Neurodegeneration (BPAN). 3034 Dec 75

Autoimmune encephalitides, with an estimated incidence of 1.5 per million population per year, although described only 15 years ago, have already had a remarkable impact in neurology and paved the field to autoimmune neuropsychiatry. Many patients traditionally presented with aberrant behavior, especially of acute or subacute onset, and treated with anti-psychotic therapies, turn out to have a CNS autoimmune disease with pathogenic autoantibodies against synaptic antigens responding to immunotherapies. The review describes the clinical spectrum of these disorders, and the pathogenetic role of key autoantibodies directed against: a) cell surface synaptic antigens and receptors, including NMDAR, GABAa, GABAb, AMPA and glycine receptors; b) channels such as AQP4 water-permeable channel or voltage-gated potassium channels; c) proteins that stabilize voltage-gated potassium channel complex into the membrane, like the LGI1 and CASPR2; and d) enzymes that catalyze the formation of neurotransmitters such as Glutamic Acid Decarboxylase (GAD). These antibodies, effectively target excitatory or inhibitory synapses in the limbic system, basal ganglia or brainstem altering synaptic function and resulting in uncontrolled neurological excitability disorder clinically manifested with psychosis, agitation, behavioral alterations, depression, sleep disturbances, seizure-like phenomena, movement disorders such as ataxia, chorea and dystonia, memory changes or coma. Some of the identified triggering factors include: viruses, especially herpes simplex, accounting for the majority of relapses occurring after viral encephalitis, which respond to immunotherapy rather than antiviral agents; tumors especially teratoma, SCLC and thymomas; and biological cancer therapies (immune-check-point inhibitors). As anti-synaptic antibodies persist after viral infections or tumor removal, augmentation of autoreactive B cells which release autoantigens to draining lymph nodes, molecular mimicry and infection-induced bystander immune activation products play a role in autoimmunization process or perpetuating autoimmune neuroinflammation. The review stresses the importance of early detection, clinical recognition, proper antibody testing and early therapy initiation as these disorders, regardless of a known or not trigger, are potentially treatable responding to systemic immunotherapy with intravenous steroids, IVIg, rituximab or even bortezomid.
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PMID:The immunobiology of autoimmune encephalitides. 3161 Nov 42

Cancer affects millions of individuals, and approximately half will develop functional impairments. Cancers that commonly, either from direct effects or from its treatments, result in functional impairments include breast, head and neck, brain, and spinal cord tumors. There is a plethora of potential impairments including pain, spasticity, dystonia, weakness, and neurogenic bowel or bladder. This article reviews the functional impairments frequently encountered in breast, head and neck, brain, and spinal cord tumors. The authors also discuss management and treatment options incorporated in comprehensive cancer rehabilitation to address these impairments to maximize and maintain function and quality of life.
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PMID:Cancer Rehabilitation:: Acute and Chronic Issues, Nerve Injury, Radiation Sequelae, Surgical and Chemo-Related, Part 2. 3203 67

Costello syndrome (CS), a rare syndrome with multisystemic involvement inherited as a dominant trait, is characterized by developmental delay, coarse facial appearance, cardiac defects including hypertrophic cardiomyopathy, skin abnormalities, brain complications, and a predisposition to certain malignancies. The musculoskeletal system is particularly affected in CS, with peculiar orthopedic anomalies that impact posture and gait. Dystonia has been recently documented to contribute to abnormal postures and musculoskeletal anomalies characterizing CS, suggesting the possible use of pharmacological treatments to treat these complications. We report the case of a child affected by CS displaying a particularly severe musculoskeletal involvement with dystonic posture especially in the arms and legs. The Movement Disorder-Childhood Rating Scale (MD-CRS) and a gait analysis were used to assess clinical patterns of hyperkinetic movement disorder and dystonia. The child was further treated with trihexyphenidyl for six months with a final dosage of 14 mg. MD-CRS and gait analysis assessments provided evidence for a significant improvement of posture and the related musculoskeletal problems with no side effects. Our preliminary study report provides first evidence that pharmacological anti-dystonia treatment significantly improves movement and posture disorders in patients with CS. Further studies enrolling larger cohorts of patients should be performed to validate these preliminary observations.
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PMID:Treatment of Dystonia Using Trihexyphenidyl in Costello Syndrome. 3267 6

Balneo-gynaecological treatment methods include external bath hydrotherapy, sedentary baths and topical dressings/cataplasm, and internal (intravaginal or intrarectal use of peloids and mineral water). Hyperosmolar thermal spas have been very popular in the treatment of infertility due to the improvement of symptoms of chronic pelvic pain, endometriosis, chronic vascular and inflammatory pelvic diseases. Acute pelvic inflammatory syndrome is a contraindication for balneo-hydrotherapy while hyperthermal hydrotherapy is contraindicated in endometriosis and neurovegetative dystonia due to the stimulation of hyperemia, which worsens the clinical picture. Balneo-hydrotherapy is not recommended in metrorrhagia and malignancies. Balneogynaecological treatment certainly has its own primary but also complementary role in the treatment of chronic gynaecological diseases and is increasingly recommended today.
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PMID:Balneogynaecology in the 21st century: increasingly recommended primary and complementary treatment of chronic gynaecological diseases. 3321 38


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