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    • glucose assay In the second case report there

    2018-11-13

    In the second case report, there was a significant increase in CK and CKMB enzymes due to the muscle degeneration (779 U/L and 26 U/L, respectively). Female carriers usually have a reduction in dystrophin and consequently mild muscle loss. The main characteristics found in muscle biopsy in women with DMD is the presence of regenerating fibers with large nucleoli, necrotic fibers, increased glucose assay and fiber type 1 muscle fibers and fibrofatty replacement [22]. Moreover, there is a mosaic pattern found in immunohistochemical findings with the fiber with normal dystrophin sarcolemma interspersed by fibers with dystrophin deficiency (dystrophin positive and negative) [23]. For ethical reasons, it was only possible to perform a biopsy on patient 2, since the patient in case 1 had a severe clinical condition and intense muscular atrophy. Muscle biopsy of the deltoid muscle in case 2 was performed. ATPase staining in pH 9.4 identified the presence of a slight predominance of type 1 fibers (Fig. 1A). The immunoperoxidase test showed partial expression of the protein dystrophin (Fig. 1B). Cavalcanti and colleagues [24] observed atrophy, variability in fiber size and endomysial fibrosis with infiltration of fat in their histological analysis of patients with DMD, with a predominance of type 1 muscle. In DMD, there is a frequently occurrence of progressive loss of muscle fiber simultaneous to muscle weakness and loss, as well as reduced sarcolemmal expression, of dystrophin in carriers [25]. The microarray study of chromosomal aberrations revealed two pathogenic gains in patient 2, within the DMD gene (arr[hg19] Xp21.1(31,746,944−31,923,772)×3 and arr[hg19] Xp21.1 (32,110,375−32,328,188)×3), with 177kb and 218kb respectively. These variants overlap exons 42–44 and 48–52 of DMD gene (OMIM #300377) respectively. Duplications found in DMD have been described in 5–10% patients with Duchenne and Becker muscular dystrophies [26–29]. Gains in the DMD gene were found primarily between exons 1–7, but duplications were also found between exons 45–55 in patients with DMD [30]. Zeng and colleagues [31] described 13 duplications in a total of 249 DMD patients, 7 duplications were found between exons 44–52. These results reinforce the association between duplications in this region and phenotype expression in DMD. During the progression of the disease, muscular weakness worsening leading to respiratory impairment is a great landmark in the life of patient. Consequently, the patient is forced to use noninvasive ventilation when this weakness affects the respiratory muscles. This impairment culminates with a decline in inspiratory and expiratory pressures and a subsequent reduction in vital and total lung capacity. In female carriers, muscle weakness is predominantly asymmetric, being observed 41% in the upper limbs, 23% in lower limbs and 36% in both [32]. In case 1, we observed flaccid tetraparesis with grade 1 of gross motor strength, and in case 2, proximal tetraparesis with grade 4 driving force. In both patients there was muscle hypotonia and weakness of the respiratory muscles, resulting in increased respiratory events during sleep. The referral for PSG of the two patients was due to complaints during sleep. The sleep studies observed obstructive events, reduced sleep efficiency and alveolar hypoventilation in case 2, common findings in patients with neuromuscular diseases. During the PSG of case 2, the patient showed hypercapnia, having 51.4% of total sleep time with end-tidal CO2 above 50mmHg. Additionally, she presented an increased respiratory disturbance index (5.7 events/hour). This can be explained by progressive muscle weakness, especially the respiratory muscles. When these muscles are affected, it leads to alterations in gas exchange and consequently hypercapnia and hypoxemia. For this reason, patient of case 2 was advised to use non-invasive ventilatory support at night. The patient had good adherence to respiratory support with reduced daytime symptoms. Recently, this patient repeated the PSG exam and an improvement in the hypercapnia was observed. Nevertheless, there was an increase in respiratory disturbance index (22.1 events/hour), probably caused by multifactorial reasons related to weight gain in recent years, menopause and also by the physical disabilities. Bi-level parameters were adjusted to correct for these abnormalities.