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Hereditary Arterial and Articular Multiple Calcification Syndrome

Arterial Calcification due to Deficiency of CD73


Presentation

  • He has been the chair of Education of EULAR, the coordinator of the EULAR online courses and is presently the President-elect of EULAR Nigel Arden is a Professor of Rheumatic Diseases and an International Leader in Epidemiology and predictive modelling[books.google.com]
  • Case 132 Gout Gout is often a difficult diagnosis as it can present in so many ways.[hss.edu]
  • Symptoms present at birth, and continuous. [102] Symptoms may be present at birth or early infancy. [102] Purpuric rash presenting at birth or in infancy. Vasculitis noted on skin biopsy.[autoinflammatory-search.org]
  • Presentation Most types of EDS present with symptoms affecting skin and joints. However, many systems can be affected.[patient.info]
  • Clinical presentation is similar to other organising pneumonia aetiologies.[err.ersjournals.com]
Vascular Disease
  • Considerable evidence supports the association of these families' vascular disease with mutations in the NT5E gene.[nejm.org]
  • disease polysomnogram continuous and simultaneous recording of multiple physiological variables during sleep pons middle aspect of the brainstem, lying between the midbrain rostrally and the medulla caudally porencephaly cerebral hemispheric cyst that[strokecenter.org]
Arthritis
  • His main research interests are osteoarthritis (OA), treatment strategies in rheumatoid arthritis and glucocorticoids.[books.google.com]
  • Systemic-Onset Juvenile Idiopathic Arthritis – aka Still’s, Systemic Juvenile Idiopathic Arthritis Macrophage Activation Diseases Currently unknown for most cases.[autoinflammatory-search.org]
  • Family history was significant for a maternal aunt and cousin with a history of juvenile rheumatoid arthritis. Using CT guidance, a 15 gauge needle was placed into the lateral aspect of the mass and 1.5 cc of milky fluid was aspirated.[theassr.org]
  • It should be kept in mind that a hypermobile odontoid is also seen in mongoloids and rheumatoid arthritis.[chiro.org]
Enthesopathy
  • MalaCards based summary : Calcification of Joints and Arteries, also known as calja , is related to rheumatic disease and enthesopathy .[malacards.org]
Paresthesia
  • Grieve points out that some clinicians are far too anxious to blame upper limb paresthesiae on the presence of a cervical rib just because it is there.[chiro.org]
  • […] ventral pons basilar migraine form of migraine characterized by a visual aura followed by an often occipital headache and one or more of the following symptoms: dysarthria, vertigo, tinnitus, decreased hearing, diplopia, blindness, ataxia, bilateral paresthesia[strokecenter.org]
  • At 42 years of age, mild paresthesias in the lower legs prompted an evaluation that revealed extensive calcifications of the distal arteries ( Figure 1B ), with sparing of the carotid arteries, aorta, and coronary arteries.[nejm.org]

Workup

  • Atlantoid assimilation Occipital dysplasia Basilar coarction Occipital vertebrae Condylar hypoplasia Lower Cervical Cervical rib Fusion failure (eg, spina Failure of segmentation bifida, spondylolisthesis) (eg, Klippel-Feil syndrome) BASIC LABORATORY WORKUP[chiro.org]

Treatment

  • His main research interests are osteoarthritis (OA), treatment strategies in rheumatoid arthritis and glucocorticoids.[books.google.com]
  • Talk to your doctor if you’re taking any of these medications or having related treatments to understand the effects of these treatments on your calcium levels.[healthline.com]
  • Treatment of Aortic Sclerosis There is no medical treatment for aortic sclerosis. The good news is that it is unlikely to progress to significant aortic valve disease.[myheart.net]
  • Calcium staining was prevented by transduction with a CD73-encoding lentiviral vector, but not a control vector expressing β-galactosidase, and by treatment every fourth day with 1 mM levamisole; daily treatment with 30 μM adenosine partially abrogated[nejm.org]

Prognosis

  • The prognosis could be worse than NSIP. Sjögren's syndrome patients with UIP are generally older and are more often women compared to those with idiopathic pulmonary fibrosis.[err.ersjournals.com]
  • Prognosis in the Ehlers Danlos syndromes [ 7 ] Prognosis will vary with the type and the severity. Lifespan is usually normal, with the exception of the vascular type.[patient.info]
  • The specific symptomatology, physical findings, roentgenog- raphy, and electromyography offer clues to the extent of damage, indicated therapy, and prognosis.[chiro.org]
  • The course and prognosis are probably not the same for these two categories, and this should prompt clinicians to consider molecular diagnosis in members of pedigrees with a patient suffering from PXE.[jmg.bmj.com]
  • […] neurotransmitter epilepsy chronic brain disorder of various etiologies characterized by recurrent unprovoked seizures epilepsy syndrome disorder defined by seizure type, clinical and EEG findings, age of onset, family history, response to therapy, and prognosis[strokecenter.org]

Etiology

  • ETIOLOGIC PICTURE See Table 5.11. Table 5.11.[chiro.org]
  • Case 128 Congenital Posteromedial Tibial Bowing Tibial bowing can be related to many underlying etiologies. The key is to recognize the direction of the apex of the bow which is how the bowing is described.[hss.edu]
  • Extensive arterial calcification of unknown etiology in a 29-year-old male. Heart Vessels 1992 ;7: 211 - 214 20. Henthorn PS, Raducha M, Fedde KN, Lafferty MA, Whyte MP.[nejm.org]
  • […] true rosettes, sharp demarcation, and enhancement on CT/MRI ephaptic electrical conduction of a nerve impulse across a non-synaptic contact site between nerves and without the mediation of a neurotransmitter epilepsy chronic brain disorder of various etiologies[strokecenter.org]

Epidemiology

  • His research is focused on a number of key elements in OA including (but not limited to) the epidemiology of osteoarthritis, the application of imaging to better understand structure and function with application to both epidemiologic research and clinical[books.google.com]
  • - deafness - dystonia Isolated NADH-CoQ reductase deficiency Leigh syndrome with leukodystrophy Synonym(s): (no synonyms) Classification (Orphanet): - Rare circulatory system disease - Rare genetic disease Classification (ICD10): (no data available) Epidemiological[csbg.cnb.csic.es]
  • Relevant External Links for NT5E Genetic Association Database (GAD) NT5E Human Genome Epidemiology (HuGE) Navigator NT5E Atlas of Genetics and Cytogenetics in Oncology and Haematology: NT5E No data available for Genatlas for NT5E Gene Isolation and characterization[genecards.org]
  • Epidemiology of Ehlers-Danlos syndromes [ 4 ] Prevalence of EDS is usually quoted as about 1/5,000 for all types, with hEDS hypermobility type accounting for about half of all registered cases: however, hEDS is an underdiagnosed condition; a frequency[patient.info]
  • TABLE 1 Thoracic manifestations of Sjögren's syndrome Background Epidemiology of Sjögren's syndrome Sjögren's syndrome is the second most common autoimmune disease after rheumatoid arthritis.[err.ersjournals.com]
Sex distribution
Age distribution

Pathophysiology

  • He has published over 80 papers and in the last years his research was focussed on defining the multifaceted role of adipokines in chondrocyte pathophysiology.[books.google.com]
  • Novel issues in pathophysiology and perspectives Pathophysiology Both elastin synthesis and degradation are accelerated in the dermis of PXE patients compared with controls, and this seems to correlate with age and with the extent of the disease. 8, 103[jmg.bmj.com]
  • Pathophysiology of Sjögren's syndrome Like other autoimmune diseases, the aetiopathogenesis of Sjögren's syndrome combines environmental factors such as viruses (cytomegalovirus, HIV, Human T-cell leukaemia virus, and hepatitis C virus) [ 9 ] or solvents[err.ersjournals.com]
  • […] waves and some physiological functions normal pressure hydrocephalus (NPH) clinical symptom complex characterized by abnormal gait, urinary incontinence, and dementia in the setting of hydrocephalus with normal cerebrospinal fluid pressure; proposed pathophysiology[strokecenter.org]

Prevention

  • You may need treatment to prevent complications if you have this extra calcium buildup.[healthline.com]
  • Based on the in vivo evidence of their functional relevance, these proteins will serve as excellent targets for the prevention and treatment of arterial calcification.[ingentaconnect.com]
  • Alternatively, a lack of functioning MRP6 may impair the transport of a substance that would normally prevent mineralization, leading to the abnormal accumulation of calcium characteristic of GACI.[ghr.nlm.nih.gov]
  • Calcium phosphate crystal formation was prevented in cells transduced with a CD73-encoding lentiviral vector but not control vector expressing β-galactosidase.[nejm.org]
  • Knowledge of the radiographic appearance of tumoral calcinosis can prevent unnecessarily aggressive treatment. References/Financial Disclosures 1. Carlson AP, Yonas HM, Turner PT.[theassr.org]

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