J.L. Vives Corrons, A. AltèsAnemia ferropénica y trastornos del metabolismo del hierro. J. Sans-Sabrafen, C. Besses Raebel, J.L. Vives Corrons (Eds.). Las miopatías metabólicas son enfermedades genéticas infrecuentes que causan problemas musculares. El tratamiento se concentra en los cambios de. Defectos genéticos en el transporte y metabolismo de la tiamina: Fenotipos .. psiquiátricas, la administración de tiamina mejora el trastorno de conducta.
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Resumen. Los objetivos de este estudio son, realizar una descrip- ción de las características demográficas, antropométricas y de las alteraciones metabólicas . requiero en caso de una emergencia. Las enfermedades musculares metabólicas afectan a cada persona en forma diferente, pero en la oría de nosotros. F. FabianiEl difícil mundo de las LP: su metabolismo y significado clínico Walter, N. Muñoz Rivas, M. Caño Hortaneda, L. Teigell García, L.P. Trastornos de las.
Juan Carlos Quintana F. Medicina Nuclear. With these methods it is possible to detect early rCBF regional Cerebral Blood Flow changes seen in dementia even before clinical symptoms and differentiate Alzheimer's disease from other dementias by means of the rCBF pattern change. During the seizure, rCBF dramatically increases locally. In drug addiction, particularly with cocaine, functional imaging has proven to be very sensitive to detect brain flow and metabolism derangement early in the course of this condition.
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Leptin concentration in breast milk and its relationship to duration of lactation and hormonal status. A small, full defect insertional portion in the tendon from the bursal to the articular margin, with retracted tendon end calipers , is observed A, transverse scan.
In the same patient, an effusion anechoic area, arrows in the bicipital tendon sheath can also be detected B, transverse scan. In the lower limbs, increased thickness and structural abnormalities of the plantar fascia and Achilles tendon have been observed in both Type I and Type II diabetes mellitus using sonography or magnetic resonance imaging [ 21—24 ].
These changes are more severe in patients with neuropathic complications and previous foot ulcers but can also be found in subjects without diabetic complications [ 25 , 26 ]. Accordingly, reduced ankle joint range of motion, which may restrain the forward progression of the tibia on the fixed foot during the stance phase of walking, has been documented in patients with diabetes [ 27 , 28 ]. This in turn results in prolonged and excessive weight-bearing stress under the metatarsal heads during the foot—floor interaction, which is thought to contribute to the development of foot ulcers in individuals with diabetes mellitus [ 28—30 ].
Imaging techniques, such as magnetic resonance imaging and the more widely used sonography, show that disorganized echotexture, focal hypoechoic areas and increased thickness of the tendons and ligaments are common in diabetic patients [ 21—24 ]. Histopathology According to clinical observations, histopathology shows that joint capsules, ligaments and tendons lose their normal glistening white appearance.
In the more affected portions, these structures become grey and amorphous, with poorly marked areas where diffuse, fusiform or nodular thickening may be observed. Electron microscopic investigation shows that collagen fibrils appear twisted, curved, overlapping and otherwise highly disorganised. There is an increased packing density of collagen fibrils, with a decreased number of fibroblasts and tenocytes per unit of surface area.
The reduction of elastic fibres is consistent. Finally, the number of capillaries per unit of surface area, and therefore the arterial blood flow, is reduced, particularly in elderly subjects [ 31 ]. Pathogenesis According to an accepted hypothesis, tendon damage in diabetes is caused by an excess of advanced glycation end products AGEs; Fig.
AGEs form at a constant but slow rate and accumulate with time in the normal body. However, their formation is markedly accelerated in diabetes because of the increased availability of glucose. A key characteristic of reactive AGEs is their ability to form a covalent cross-link within collagen fibres, altering their structure and functionality [ 13 ]. Diabetes and obesity are the best-known factors of tendon degeneration. Hypecholesterolaemia and hyperuricaemia are frequently associated.
The ensuing collagen cross-linking, tenocyte apoptosis and release of inflammatory cytokines lead progressively to tendon damage. Essentially, collagen cross-links can generate via two different pathways: i the enzymatically driven, hydroxylysine-derived aldehyde pathway and ii the non-enzymatic glycation or oxidation-induced AGE cross-link [ 32—34 ].
As opposed to the beneficial effects on collagen strength bestowed by enzymatic cross-links, AGE cross-linking is generally thought to cause deterioration of the biological and mechanical function of tendons and ligaments [ 35 ]. In fact, once formed, AGEs can be degraded only when the protein they are linked to is itself degraded. Therefore the most extensive accumulation of AGEs will occur in tissues with low turnover, such as cartilage, bone and tendon.
This in turn accelerates AGE cross-linking in collagen fibres and leads to sustained upregulation of pro-inflammatory mediators and to a dysfunctional cell phenotype [ 38 , 39 ].
Tendon damage ensues from these complex pathways. In addition to degeneration, tendon and ligament thickness increases as expression of the abnormal storage and the architectural distortion of collagen layers [ 42 , 43 ].
From the biomechanical point of view, several studies have demonstrated that collagen toughness and stiffness and the elastic modulus are strongly influenced by AGE cross-link formation [ 44 , 45 ]. In addition to the AGE-mediated pathogenetic mechanism, hyperglycaemia in itself may lead to alterations in the redox environment, specifically in the polyol pathway, resulting in increased intracellular water and cellular oedema.
Microvascular disease may lead to tissue hypoxia with overproduction of oxygen free radicals, creating a permissive apoptotic environment [ 46 ]. It is not surprising that these metabolic abnormalities may be present in the early clinical stages of Type II diabetes [ 24 ].
Indeed, while Type I diabetes is diagnosed at an early stage because of a relatively acute clinical onset characterized by extreme elevations in glucose concentrations, Type II diabetes is usually diagnosed later, when many patients already exhibit chronic complications. Certainly these subjects could have glucose intolerance or mild Type II diabetes mellitus for a significant length of time before diabetes is clinically diagnosed.
The ultrasonographic finding of reduced neovascularization inside the degenerated tendons [ 47 ] is consistent with several observations that show decreased vascular endothelial growth factor levels and reduced angiogenesis in different experimental and clinical diabetic conditions [ 48—50 ].
This finding adds to our knowledge about the pathogenesis of diabetic tendinopathy. The downregulation of this factor can limit vessel and nerve ingrowth and can also affect neurogenesis, reducing neural progenitor cell recruitment, axonal outgrowth, neuronal survival and the proliferation of Schwann cells [ 51 ].
The association between reduced nerve proliferation inside tendons and sensitive neuropathy reduces pain perception. Consequently, diabetic patients, who lack distress signals, may excessively exercise their tendons, making them prone to overuse damage.
Hypercholesterolaemia Clinical observations and histopathology Heterozygous familial hypercholesterolaemia HeFH is caused by a defect in the catabolism of low-density lipoprotein LDL , usually resulting from the inheritance of a mutant LDL receptor gene. Untreated HeFH is associated with a high mortality and morbidity from coronary heart disease, but when intensive treatment occurs early, life expectancy can be substantially improved.
The early detection of xanthoma is thus exceptionally important. Unfortunately, in several cases the clinical diagnosis is difficult because the nodules are too small to be detected or because the pain is ascribed to an unspecific tenosynovitis. In this regard, Beeharry et al. Therefore these authors suggest that serum cholesterol measurement in young patients presenting with a painful Achilles tendon is mandatory because it could allow the early diagnosis of HeFH.
Both midportion Achilles tendons appear hypoechoic, dishomogeneous and thickened calipers , with loss of the normal fibrillar pattern longitudinal scan. Neovessels inside the tendon can be detected by means of power Doppler examination panel 1.
Panel 1: left Achilles tendon; Panel 2: right Achilles tendon. Sonography is very useful for detecting tendon abnormalities Grade 1: minor sonographic changes; Grade 2: diffuse heterogeneous echo pattern; Grade 3: focal hypoechoic lesions.
Sonography can visualize xanthoma located deep within the tendon that cannot be detected by palpation. Tsouli et al. The thickness of the tendon was increased in patients with HeFH compared with controls in proportion to the echostructural abnormalities.
Only patients with minor sonographic changes showed significant reductions in Achilles tendon thickness after statin treatment from 4.
Exacerbations of Achilles tendinopathy can occur when statin treatment is started and is attributable to the rapid lowering of cholesterol [ 53 ].
The condition would seem to be akin to the exacerbations of gout that occur when allopurinol treatment begins and the serum uric acid level decreases rapidly. The mobilization of cholesterol, like that of uric acid crystals, presumably provokes an inflammatory cell reaction [ 52 , 54 ]. Histologically, cholesterol deposition is observed both extracellularly and inside histiocytes and other foam cells, which show numerous intracytoplasmic lipid vacuoles, lysosomes and myelin figures.
An inflammatory cell infiltrate and a fibrous reaction may be associated. The deleterious effects of non-familial hypercholesterolaemia on tendons have been debated.
Some studies have shown that in patients with Achilles tendon rupture, the concentration of serum lipids is higher than in controls [ 8 ] and that the esterified fraction of cholesterol is elevated in biopsies from degenerated Achilles tendons [ 55 ]. However, in a study comparing the sonographic characteristics of Achilles tendon in subjects with familial hypercholesterolaemia with those of patients with non-familial hypercholesterolaemia, abnormal patterns were noted only in subjects with familial hypercholesterolaemia [ 56 ].
Similarly, conflicting results have been reported for rotator cuff tendons.
According to Abboud et al. However, these results are challenged by the findings of Longo et al. Pathogenesis The pathogenetic mechanisms leading to the formation of xanthoma have been elucidated. LDL derived from the circulation accumulate into tendons and become oxidized.
Oxidized LDL oxLDL contains various oxidatively modified phospholipids and cholesterols, isoprostanes, oxidized arachidonoyl residues, lysolipids and lysophosphatidic acid [ 59 ]. As might be expected from this, the effect of oxLDL on inflammatory cells is complex, dependent on the concentration of the particles and the extent and mode of oxidation [ 60 ].
It is worth mentioning that specific oxidative-truncated phospholipids rapidly enter nucleated cells, travel to the mitochondria and initiate the mitochondrial dependent pathway to apoptotic cell death [ 59 ].
Artieda et al. In a familial form of massive tendon xanthomatosis, Matsuura et al. Interestingly, xanthomatosis and atherosclerosis share these genetic abnormalities and therefore may result from the same pathophysiological mechanisms. This explains why tendon xanthoma is a marker of high risk for cardiovascular disease.