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 Tc-DPD planar scintigraphy at the time of initial diagnosis, consistent with ATTR amyloid myopathy.

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.

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.

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.