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Systemic Form (systemic + form)
Selected AbstractsRare cause of dyspnoeaINTERNAL MEDICINE JOURNAL, Issue 3 2009R. A. Ghiculescu Abstract Although primary amyloidosis is the most common systemic form of amyloidosis, its diagnosis remains notoriously difficult. Unless included in the differential diagnosis, the condition may be missed as a cause of severe and ultimately fatal clinical syndromes. We describe two patients with primary amyloidosis who presented with dyspnoea/orthopnoea and oedema due to cardiac and renal involvement. Both had a fatal outcome. [source] Solitary angiokeratoma of the tongueJOURNAL OF ORAL PATHOLOGY & MEDICINE, Issue 4 2006Maria Siponen Angiokeratoma is a rare, cutaneous vascular disorder that can occur in several clinically distinct conditions. It usually presents as multiple, red to blue or black, asymptomatic papules on the skin. Oral mucosal involvement is common in the systemic form, but very rare in the localized forms of angiokeratomas. We report the second case of a solitary papular angiokeratoma of the oral cavity. [source] Mast cell tumours (mastocytosis) in the horse: A review of the literature and report of 11 casesEQUINE VETERINARY EDUCATION, Issue 4 2008T. S. Mair Summary Mast cell tumours are uncommon tumours in horses, compared to some other species of domesticated animals. They are most frequently located in the skin, but they can also arise at other sites, including the upper respiratory tract and eye. Cytology or histopathology is required for diagnosis. Treatment options include surgical excision, laser ablation, cryotherapy, intralesional injection of corticosteroids or water, and radiotherapy. Malignant and systemic forms are very rare. [source] Amyotrophic lateral sclerosis: all roads lead to RomeJOURNAL OF NEUROCHEMISTRY, Issue 5 2007Jose-Luis Gonzalez de Aguilar Abstract Amyotrophic lateral sclerosis (ALS) is the most frequent adult-onset motor neuron disease characterized by degeneration of upper and lower motor neurons, generalized weakness and muscle atrophy. Most cases of ALS appear sporadically but some forms of the disease result from mutations in the gene encoding the antioxidant enzyme Cu/Zn superoxide dismutase (SOD1). Several other mutated genes have also been found to predispose to ALS including, among others, one that encodes the regulator of axonal retrograde transport dynactin. As all roads lead to the proverbial Rome, we discuss here how distinct molecular pathways may converge to the same final result that is motor neuron death. We critically review the basic research on SOD1-linked ALS to propose a pioneering model of a ,systemic' form of the disease, causally involving multiple cell types, either neuronal or non-neuronal. Contrasting this, we also postulate that other neuron-specific defects, as those triggered by dynactin dysfunction, may account for a primary motor neuron disease that would represent ,pure' neuronal forms of ALS. Identifying different disease subtypes is an unavoidable step toward the understanding of the physiopathology of ALS and will hopefully help to design specific treatments for each subset of patients. [source] | ||||||||||