Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0005940 (bone disease)
 7,459 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A radiological study of the feet was performed in 162 unselected diabetic patients with gangrene. They were compared with 59 diabetic patients without gangrene, 45 patients with familial amyloidosis and polyneuropathy and 30 healthy controls. The patients with familial amyloidosis had severe distal neuropathy but normal oral glucose tolerance test curves. Radiographic findings, e.g. skeletal destructions (diabetic osteopathy) and arterial calcification of the medial type were classified without knowledge of the clinical findings. Osteopathy was more common in diabetic patients with gangrene than in the other groups of patients. Medial arterial calcification was more common among diabetics with gangrene compared to patients with amyloidosis and to controls. There were no differences between diabetics without gangrene and patients with amyloidosis, but both of these groups had more calcifications than the controls. Our study suggests that diabetic osteopathy is not caused by peripheral neuropathy per se. The skeletal and skin lesions in diabetic patients are probably equivalent lesions localized to different tissues in the feet. It has been suggested that medial degeneration in the arterial wall is due to neuropathy. In agreement with this suggestion, the patients with familial amyloidosis and neuropathy had medial calcification. However, in diabetic patients this does not exclude other etiological agents.
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PMID:Skeletal lesions and arterial calcifications of the feet in diabetics. 659 58

The introduction of newer technology in the past few years, especially the use of second-generation enzyme-linked immunosorbent assays, recombinant immunoblot assays, reverse transcriptase, and DNA amplification, have clearly defined the role of hepatitis C virus as the most important etiologic factor in the development of mixed cryoglobulinemia. This has led to a better understanding of the pathogenic mechanisms involved in disease expression, particularly vasculitis, and also has provided a rationale for the use of interferon alfa and other antiviral drugs in the therapy of these disorders. The clinical manifestations of the syndrome also have been well characterized, as well as some of the risk factors. There also has been an improvement in our understanding of the pathogenic mechanisms involved in multiple myeloma and related monoclonal gammopathies, as well as several attempts to improve early recognition of bone disease with magnetic resonance imaging. The susceptibility gene for familial Mediterranean fever has been better characterized, as have risk factors for colchicine toxicity. The role of cytokines has been better delineated for both monoclonal gammopathies and POEMS (polyneuropathy, organomegaly, endocrinopathy, M protein, and skin changes) syndrome.
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PMID:Cryoglobulinemia and other dysproteinemias, familial Mediterranean fever, and POEMS syndrome. 771 25

Patients with chronic renal failure (CRF) often have signs and symptoms related to fluid and electrolyte disturbances, anemia, malnutrition, bone disease, and gastrointestinal problems. Vascular and neurologic impairment in particular remain an important source of morbidity and mortality in this vulnerable patient population. Sagliker syndrome is a novel syndrome that was recently described in 2004 in patients with CRF and severe and late secondary hyperparathyroidism who suffered from severe skull and facial bone changes, particularly from uglifying human face appearances and neuropsychiatric disorders. The goal of this study was to assess neuropsychiatric manifestations occurring in CRF patients with Sagliker syndrome. Four female and 8 male patients with CRF on regular dialysis at the hemodialysis units of the Internal Medicine Departments around southern Turkey participated in the study. All patients underwent a clinical neurologic examination performed by the same neurologist. Neuropsychiatric signs and symptoms were found in all cases. The results showed that the most frequent neurologic manifestations in CRF patients with Sagliker syndrome were headache, polyneuropathy, cranial neuropathy, fatigue, and psychiatric disorders.
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PMID:Neurologic manifestations in Sagliker syndrome: uglifying human face appearance in severe and late secondary hyperparathyroidism in chronic renal failure patients. 1682 26

Chronic kidney disease (CKD) predisposes one to either deficiency or toxic excess of different micronutrients. The knowledge on micronutrients-specifically water-soluble vitamins and trace elements-in CKD is very limited. Consequently, current guidelines and recommendations are mostly based on expert opinions or poor-quality evidence. Abnormalities of micronutrient resources in CKD develop for several reasons. Dietary restrictions and anorexia lead to an insufficient micronutrient intake, while diuretics use and renal replacement therapy lead to their excessive losses. Absorption is unpredictable, and metabolism impaired. Better understanding of the micronutrient needs of CKD patients could have an impact on many complications linked to vitamin and trace element disorders, including high mortality, increased risk of atherosclerosis, inflammation, oxidative stress, anemia, polyneuropathy, encephalopathy, weakness and fragility, muscle cramps, bone disease, depression, or insomnia. Here, we summarize the up-to-date knowledge on micronutrient resources in different stages of CKD, and share our experience with the assessment of micronutrient status.
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PMID:Vitamins and Microelement Bioavailability in Different Stages of Chronic Kidney Disease. 2829 76

End-stage renal disease (ESRD) is associated with chronic kidney disease-mineral and bone disorder (CKD-MBD); including renal osteodystrophy, and biochemical changes reflecting mineral and hormonal abnormalities. CKD-MBD can lead to serious musculoskeletal manifestations with an impact on the functional status of patients. The objective is to find the frequency of the musculoskeletal manifestations in dialysis patients, to determine the impact on the functional ability of patients, and to detect the relation between parathyroid hormone (PTH) level and musculoskeletal manifestations. The sample size included 53 adult patients on hemodialysis (HD), three times weekly, divided into two groups as follows; (Group A) included 15 patients (10 males and 5 females) on HD for a year or <1 year and (Group B) included 38 patients (24 males and 14 females) on HD for >1 year. All patients were subjected to a full history and physical examination plus a comprehensive assessment of patient's disability was done with a health assessment questionnaire (HAQ)-disability index. The most common neurological manifestations are uremic polyneuropathy (43.4%) and carpal tunnel syndrome. Arthralgia is the most common musculoskeletal manifestation (83%).The most common radiological signs of SHPT is the subperiosteal resorption of the terminal phalanges (67.9%). The most common MSUS abnormalities are Achilles tendinopathy (67.9%). Osteoporosis is detected in 24.5% of patient. There are highly positive significant correlations between HAQ score and age, HD duration, serum PTH, T-score, and X-ray findings. Musculoskeletal system involvement remains a common problem which decreases the physical function of patients with ESRD.
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PMID:Musculoskeletal manifestations in end-stage renal disease patients on hemodialysis and relation to parathyroid dysfunction. 3080 69