Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011849 (diabetes)
 277,896 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Peripheral artery disease, caused by chronic arterial occlusion of the lower extremities, affects over 200 million people worldwide. Peripheral artery disease can progress into critical limb ischemia (CLI), its more severe manifestation, which is associated with higher risk of limb amputation and cardiovascular death. Aiming to improve tissue perfusion, therapeutic angiogenesis held promise to improve ischemic limbs using delivery of growth factors but has not successfully translated into benefits for patients. Moreover, accumulating studies suggest that impaired downstream signaling of these growth factors (or angiogenic resistance) may significantly contribute to CLI, particularly under harsh environments, such as diabetes mellitus. Noncoding RNAs are essential regulators of gene expression that control a range of pathophysiologies relevant to CLI, including angiogenesis/arteriogenesis, hypoxia, inflammation, stem/progenitor cells, and diabetes mellitus. In this review, we summarize the role of noncoding RNAs, including microRNAs and long noncoding RNAs, as functional mediators or biomarkers in the pathophysiology of CLI. A better understanding of these ncRNAs in CLI may provide opportunities for new targets in the prevention, diagnosis, and therapeutic management of this disabling disease state.
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PMID:Noncoding RNAs in Critical Limb Ischemia. 3189 49

Visual evoked potential (VEP) is an electrophysiological exploration to detect the response to light stimulus and reveal visual pathways. Aim: VEP study in patients with diabetes mellitus (DM), assessment of cortical and retinal activity, and identifying the role of this investigation in the diagnosis of diabetic retinopathy. Methods: A case-control study conducted to investigate two groups: the first group (G1) included 78 patients (156 eyes) with different stages of diabetic retinopathy, and the second group (G0) included 78 healthy subjects (156 eyes). All subjects have been ophthalmologically and neurologically tested, also using visual evoked potentials. The patients have been exposed to mono-ocular, non-patterned stimuli, using LED-goggles glasses. Results: A serious increase in P100 and N75 wavelength latency in diabetic patients has been observed when compared to healthy subjects (p<0.05), and a N135 value increase in patients with diabetes mellitus (p=0.06). In addition, the amplitude of the P100 wave has changed in diabetic patients in comparison to healthy subjects. Conclusions: Changes in latency of waves registered on the VEP pathway and the amplitude of the P100 wave have been observed in patients with diabetic retinopathy (89.7%), which proved the importance of this study in the diagnosis of diabetic retinopathy and the possibility to examine the prognosis of this disabling disease.
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PMID:Evaluation of visual pathways using visual evoked potential in patients with diabetic retinopathy. 3191 35

Aceruloplasminemia is a rare autosomal recessive genetic disease characterized by mild microcytic anemia, diabetes, retinopathy, liver disease, and progressive neurological symptoms due to iron accumulation in pancreas, retina, liver, and brain. The disease is caused by mutations in the Ceruloplasmin (CP) gene that produce a strong reduction or absence of ceruloplasmin ferroxidase activity, leading to an impairment of iron metabolism. Most patients described so far are from Japan. Prompt diagnosis and therapy are crucial to prevent neurological complications since, once established, they are usually irreversible. Here, we describe the largest series of non-Japanese patients with aceruloplasminemia published so far, including 13 individuals from 11 families carrying 13 mutations in the CP gene (7 missense, 3 frameshifts, and 3 splicing mutations), 10 of which are novel. All missense mutations were studied by computational modeling. Clinical manifestations were heterogeneous, but anemia, often but not necessarily microcytic, was frequently the earliest one. This study confirms the clinical and genetic heterogeneity of aceruloplasminemia, a disease expected to be increasingly diagnosed in the Next-Generation Sequencing (NGS) era. Unexplained anemia with low transferrin saturation and high ferritin levels without inflammation should prompt the suspicion of aceruloplasminemia, which can be easily confirmed by low serum ceruloplasmin levels. Collaborative joint efforts are needed to better understand the pathophysiology of this potentially disabling disease.
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PMID:Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis. 3223 85


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