RESUMO
Sarcoidosis and systemic sclerosis are two inflammatory multisystemic disorders of unknown etiology that may be life-threatening especially when there is cardiac involvement. Both diseases may coexist, however, there are very few case reports of patients with both cardiac sarcoidosis and systemic sclerosis in the literature. We report the case of a 72-year-old female who was initially referred for dyspnea. A chest computed tomography scan showed multiple hilar and mediastinal adenopathy with a non-specific opacity in the middle pulmonary lobe. FDG-PET-scan showed increased FDG uptake in the adenopathy, the middle lobe and the right ventricular free wall. Sarcoidosis was confirmed with a lung biopsy. Both electrocardiogram and echocardiogram were normal. Four months later, the patient developed a high-grade atrioventricular block deemed secondary to her cardiac sarcoidosis. Two years later, the patient was referred to a rheumatologist for severe Raynaud's symptoms, sclerodactyly and acrocyanosis. After thorough investigations, a diagnosis of limited cutaneous systemic sclerosis with systemic and cardiac sarcoidosis was made. This case demonstrates that both cardiac sarcoidosis and systemic sclerosis may coexist. In the literature, either disease may come first. In cases where cardiac symptoms appear after the diagnosis of concomitant sarcoidosis and systemic sclerosis, it might be difficult for clinicians to confirm which disease is responsible for the heart involvement. This is important since early cardiac sarcoidosis treatment should be done to prevent major complications and may well differ from systemic sclerosis treatment. In this review, we discuss the main clinical manifestations and imaging findings seen with cardiac disease secondary to sarcoidosis and systemic sclerosis.
RESUMO
The lack of dystrophin in Duchenne muscular dystrophy (DMD) compromises the integrity and function of muscle fibers. Skeletal muscles, except the diaphragm, do not undergo progressive degeneration in adult mdx mice due to compensatory mechanisms, including structural protein upregulation. New mouse models, including utrophin haploinsufficient mdx (mdx/utrn+/-) mice, may better recapitulate DMD. Our goal was to determine whether mdx/utrn+/- worsens the mdx phenotype and to characterize the course of the disease on muscle function and contractility at 1, 2, and 5 months of age, which encompass all stages of development relevant to DMD therapy. The functional performances of mdx/utrn+/- mice showed that they are not more affected than mdx/utrn+/+ mice based on downhill treadmill running parameters and subsequent recovery measured by open-field voluntary activity. WT mice ran the entire distance (450 m) on the treadmill, with an additional 561 m during the 4 h of open-field while mdx/utrn+/+ and mdx/utrn+/- mice completed, respectively, 236 m and 273 m on the treadmill and 341 m and 287 m during the open-field period. In addition, isolated ex vivo contractile properties and repeated eccentric contractions showed that mdx/utrn+/- does not significantly worsen the function of dystrophic EDL muscles, which are mainly composed of fast-twitch fibers that are preferentially affected in DMD. Twitch, absolute tetanic, and specific tetanic forces were very similar in dystrophic EDL muscles from mdx/utrn+/+ and mdx utrn+/- mice at 1, 2, and 5 months of age. Five-month-old mdx/utrn+/+ and mdx/utrn+/- mice lost roughly 50% of their force due to repeated eccentric contractions. Thus, histological, morphological, biochemical functional and contractile observations showed that utrophin haploinsufficiency has a very limited impact on mdx mice.
