نتایج جستجو برای: lipoid proteinosis
تعداد نتایج: 15341 فیلتر نتایج به سال:
1. Universidade Federal de Alagoas (UFAL), Maceió, AL, Brazil. 2. Clínica de Medicina Nuclear e Radiologia de Maceió (MedRadius), Maceió, AL, Brazil. Mailing address: Dra. Christiana Maia Nobre Rocha de Miranda. Clínica de Medicina Nuclear e Radiologia de Maceió (MedRadius). Rua Hugo Corrêa Paes, 104, Farol. Maceió, AL, Brazil, 57050-730. E-mail: maia.christiana@ gmail.com. interlobular and int...
BACKGROUND Lipoid proteinosis (LP) is a rare autosomal recessive disorder characterized by a hoarse voice, variable scarring, and infiltration of the skin and mucosa. This disease is associated with mutations of the gene encoding extracellular matrix protein 1 (ECM1). CASE REPORT This was a clinical and molecular study of a new case of LP with a severe phenotype. A 35-year-old female born to ...
BACKGROUND The human amygdala plays a crucial role in processing social signals, such as face expressions, particularly fearful ones, and facilitates responses to them in face-sensitive cortical regions. This contributes to social competence and individual amygdala size correlates with that of social networks. While rare patients with focal bilateral amygdala lesion typically show impaired reco...
Extracellular matrix protein 1 (ECM1) is a secreted glycoprotein that plays a pivotal role in the structural and homeostatic biology of the skin, particularly in angiogenesis, reconstitution of basement membrane, proliferation and differentiation of epidermal keratinocytes and dermal fibroblasts, and malignant transformation. This rationale is substantiated by loss-of-function mutations in the ...
هدف: lipoid proteinosis یک بیماری نادر اتوزومی مغلوب است که از جهش در پروتئین ماتریکس خارج سلولی1 (ecm1) بوجود می آید. ژن ecm1 ، 10 اگزون دارد و در مطالعاتی که تا به امروز صورت گرفته، ثابت شده میزان جهش در 3 اگزون این ژن (6، 7 و8) از سایر اگزون های آن بیشتر بوده است. مطالعات قبلی در مورد این بیماری، بررسی جهش های 3 اگزون 6، 7 و 8 بوده است. مطالعه فعلی ما در مورد 7 اگزون (1، 2، 3، 4، 5، 9 و 10...
RATIONALE Exogenous lipoid pneumonia is a rare condition due to abnormal presence of oily substances in the lungs. It is a rarely known cause for false positive FDG PET-CT results and can sometimes lead to invasive investigations. Searching and finding the source of the oily substance is one of the keys to the diagnosis. Inhalation of oily drugs during snorting has rarely been described. PATI...
Pulmonary alveolar proteinosis is a rare disease characterized by the accumulation of lipoproteinaceous material derived from alveolar surfactant in the alveoli, with a consequent deterioration in gas exchange. Pathogenesis is related to impaired phagocytic function of alveolar macrophages. In recent years, a new treatment for pulmonary alveolar proteinosis-consisting of subcutaneous administra...
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