Amyloid myopathy: expanding the clinical spectrum of transthyretin amyloidosis-case report and literature review.

We identified two patients with transthyretin (ATTR) amyloid myopathy (one ATTR variant amyloidosis, ATTRv; one wild-type ATTR amyloidosis, ATTRwt). Myopathy was the initial manifestation in ATTRwt, whereas it followed neuropathy and cardiomyopathy in ATTRv. The ATTRwt patient showed muscular tracer uptake on 99mTc-DPD planar scintigraphy at the time of initial diagnosis, consistent with ATTR amyloid myopathy. The ATTRv patient underwent heart transplantation because of progressive heart failure. Within the next two years, progressive myopathic symptoms and extracardiac tracer uptake on 99mTc-DPD planar scintigraphy were documented, attributable to ATTR amyloid myopathy. Interstitial amyloid deposits were confirmed by muscle biopsy in both patients, with a particularly high amyloid burden in the adipose tissue. This case report highlights the frequent concomitant presence of cardiac ATTR amyloidosis and ATTR amyloid myopathy. ATTR amyloid myopathy may precede cardiac manifestation in ATTRwt or occur after heart transplantation in ATTRv. Due to the high diagnostic accuracy of 99mTc-DPD scintigraphy for detecting ATTR amyloid myopathy and the emergence of novel therapeutics, it is important to increase the awareness of its presence.

Pattern of myogenesis and vascular repair in early and advanced lesions of juvenile dermatomyositis.

Regenerative processes that counteract perifascicular muscle atrophy and capillary loss in juvenile dermatomyositis (JDM) are not well characterized. We aimed to analyze the pattern of myo-regeneration in relation to vascular damage and repair in muscle specimens from JDM patients. Myogenic regulatory factors that are sequentially expressed during myogenesis were studied by immunohistochemistry. Capillary density, numbers of CD34+ endothelial progenitor cells within the endomysium and molecules implicated in angiogenesis were evaluated by double-immunofluorescence techniques. Myogenic regulatory factors were significantly up-regulated in JDM muscle exhibiting a different pattern in early and advanced lesions. In early lesions Pax7+ satellite cells and both MyoD+ and Myogenin+ myogenic cells were moderately increased. In lesions with advanced perifascicular atrophy Pax7+ satellite cells were numerous, but absence of MyoD+ in the context of increased Myogenin+ expression suggested a dysregulation of the myogenic regenerative pathway. The overall capillary density in JDM was decreased, but regions of capillary loss in advanced lesions alternated with focal increase of hyperplastic endothelial cells in early lesions. Up-regulation of endoglin in hyperplastic endothelial cells in conjunction with overexpression of TGF-ß1 and VEGF suggested activation of neovascularization. Conversely, CD34+ endothelial progenitor cells were not increased arguing against relevant contribution to vascular repair. Our results demonstrate substantial induction of myogenesis in JDM. While the early phase of myogenesis appears to be associated with endothelial cell activation, an altered expression of MRFs in perifascicular regions with capillary depletion suggests an impairment of myogenic differentiation that may contribute to perifascicular muscle fiber atrophy in JDM.

Clinical Heterogeneity in Cerebral Hemiatrophy Syndromes.

BACKGROUND: Cerebral hemiatrophy syndromes can present with variable neurological symptoms. In childhood epilepsy, mental retardation and neuropsychiatric disorders are common while in adults movement disorders, such as highly asymmetric parkinsonism or hemidystonia as well as neuropsychiatric problems have been reported. METHODS: Here, we present three adult patients with features that expand the clinical spectrum and give an overview of the most common clinical signs associated with this rare condition. RESULTS: All three patients had prominent neuropsychiatric symptoms such as mood swings and increased irritability. Furthermore, one patient developed hemichorea which can be a rare presentation of cerebral hemiatrophy. CONCLUSIONS: Cerebral hemiatrophy syndromes are a heterogeneous group of disorders that may also present with neuropsychiatric symptoms or hemichorea.

Incidence and predisposing factors of cold intolerance after arterial repair in upper extremity injuries.

OBJECTIVE: The purpose of this report was to present abnormal posttraumatic cold intolerance in patients that previously underwent repair of arterial injuries after civilian upper limb trauma in our institution. METHODS: All patients who underwent repair of arterial lesions after upper limb trauma since 1990 were reviewed, and clinical follow-up studies were performed. Patients were asked to complete the cold intolerance symptom severity (CISS) questionnaire to evaluate presence and severity of self-reported cold sensitivity, and the disabilities of arm, shoulder, and hand (DASH) questionnaire to analyze functional disability. Abnormal cold intolerance was defined as a CISS score over 30. Further analysis included evaluation of epidemiologic, clinical, and perioperative data for factors predisposing to abnormal cold intolerance. RESULTS: A total of 87 patients with previous repair of upper limb arterial injuries were eligible to answer the CISS and DASH questionnaires, and 56 patients (64%; 43 men; median age: 31.9 years) completed both. In our cohort, blunt trauma was the predominant cause of injury (n = 50; 89%). Accompanying lesions of nerves (n = 22; 39%) and/or orthopedic injuries (n = 36; 64%) were present in 48 patients (86%). After a median follow-up period of 5.5 years (range, 0.5-19.7), 23 patients (41% of 56) reported on abnormal cold intolerance. Patients with cold intolerance had worse functional results (as measured by the DASH questionnaire; mean ± SD, 42.7 ± 29.7 vs 11.5 ± 23.9; P < .001) when compared with patients without. Cold intolerance was more frequently seen in patients with previous nerve lesion (P = .027) and in proximal injuries (subclavian or axillary vs brachial or forearm arteries: P = .006), but was not correlated to gender, age, involvement of the dominant or nondominant arm, and the presence of ischemia, bone injury, or an isolated vascular injury. CONCLUSIONS: Abnormal cold intolerance is frequently seen in patients with a history of arterial repair in upper limb trauma. It is associated with significant functional impairment. Concomitant nerve injury and involvement of the subclavian or axillary artery are the major predisposing factors for development of cold intolerance after upper limb trauma.

Right colon volvulus associated to acquired megacolon

O volvo de colo direito é uma rara causa de obstruçäo intestinal em nosso meio e apresenta uma mortalidade elevada. Apresentam-se dois casos de volvo de colo direito associado ao megacolo adquirido, que apresentaram boa evoluçäo. Discute-se a etiologia, o tratamento e as complicaçöes