Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018801 (heart failure)
 72,216 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Inclusion body myopathy (IBM) associated with Paget disease of the bone (PDB) and frontotemporal dementia (FTD) (now called IBMPFD), is a progressive autosomal dominant disorder that was recently identified as being caused by mutations in the VCP (p97 or CDC48) gene which plays a key role in the ubiquitin-proteasome dependent degradation of cytosolic proteins and in the retro translocation of misfolded proteins from the endoplasmic reticulum into the cytoplasm. Approximately 90% of the affected persons in the study have myopathy or muscle weakness particularly of the shoulder and hip girdles, which can lead to loss of walking ability and even death by complications of respiratory and cardiac failure. About half of affected study participants have Paget disease of bone characterized by abnormal rates of bone growth that can result in bone pain, enlargement and fractures. Findings of premature FTD affecting behavior and personality are seen in a third of affected individuals. Within 20 IBMPFD families whose data was analyzed for this study, ten missense mutations have been identified, the majority of which are located in the N-terminal ubiquitin binding domain. Inclusions seen in the muscle, brain and heart in VCP disease contain ubiquitin, beta amyloid and TDP-43, also seen in other neurodegenerative disorders thus implicating common pathways in their pathogenesis.
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PMID:VCP disease associated with myopathy, Paget disease of bone and frontotemporal dementia: review of a unique disorder. 1884 50

Scurvy is one of the oldest diseases in human history. Nowadays, although scurvy tends to become a forgotten disease in developed country, rare cases still occur, especially in people undergoing extreme diet, old people or children with poor diet and patients with malabsorption. We describe three cases of scurvy. The first case is a patient diagnosed with Crohn's disease, the second one is in a context of anorexia nervosa and drug addiction, and the third case is in a context of social isolation. Early recognition of scurvy can be difficult because symptoms may appear nonspecific and can mimic more common conditions. In any patient with spontaneous hematoma and purpura, in the context of nutritional disorder, scurvy should be systematically considered. As this disease can lead to severe complications, such as bone pain, heart failure or gastrointestinal symptoms, nothing should delay vitamin C supplementation, which is a simple and rapidly effective treatment.
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PMID:Severe scurvy: an underestimated disease. 2608 92

Patients with plasma cell myeloma may initially present to their dentists or dental surgeons with toothache, loose teeth, or gingival masses. An X-ray of the jaw can reveal osteolyses. In addition, accumulation of monoclonal light chains in AL-amyloidosis can lead to macroglossia. It is prudent that the dentist or dental surgeon recognizes the underlying disease and refers the patient to the oncologist or hematologist for further workup to prevent the complications of plasma cell myeloma such as renal impairment, fractures, bone pain, infections, hypercalcemia, anemia, or heart failure. Another area where the dentist or dental surgeon is involved with patients suffering from plasma cell myeloma is prevention and therapy of osteonecrosis of the jaw, occurring after administration of bisphosphonates or denosumab for osteolytic bone disease. The case report presented here shows a patient complaining of toothache for whom recognition of a systemic disease by the dentist led to the diagnosis of plasma cell myeloma, highlighting the need for interdisciplinary cooperation. As recent years have seen many changes in the management of patients with plasma cell myeloma, an update for dentists and dental surgeons is warranted.
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PMID:Toothache as the initial symptom of plasma cell myeloma. 3014 14


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