Pulmonary Amyloidosis Mimicking Interstitial Lung Disease in A Patient with Polymyozitis

Primary pulmonary amyloidosis is a localized type of amyloidosis which usually presents with parenchymal nodules, diffuse alveolar damage, or submucosal deposits in the airways. Polymyozitis is an inflammatory autoimmune myopathy characterized by symmetric weakness of the limb girdle and anterior neck muscles. Nearly 80-90% of cases with polymyositis are successfully treated with steroid and cyclophosphamide combination therapies. Polymyozitis also cause secondary interstitial lung disease and the radiological findings of these two diseases may not be easily discriminated from each other. Turk J Phys Med Rehab 2072;58:159-61

Andiferansiye Bağ Doku Hastalıklı Olguda Gluteal Kalsinozis: Cerrahi Rezeksiyonu Yapılmış Dev Lezyon

Calcinosis frequently accompanies rheumatologic diseases and mostly occurs after trauma, due to structural damage, hypovascularity, and tissue hypoxia. Calcinosis may be seen in a localized area or it may be widespread, causing muscle atrophy, joint contractures, and skin ulceration. Herein, we report a patient with localized form of calcinosis that occured without history of trauma and the patient also has a diagnosis of undifferentiated connective tissue disease. Turk J Phys Med Rehab 2011;57 Suppl 2: 358-60.Wo

Anti-Interleukin 1 Treatment for Patients with Familial Mediterranean Fever Resistant to Colchicine

Objective. Familial Mediterranean fever (FMF) is a recessively inherited autoinflammatory disorder characterized by recurrent attacks of fever and serositis. Although colchicine is the standard therapy for preventing attacks and suppressing inflammation, 5%-10% of compliant patients are colchicine-resistant. We report the effect of anti-tumor necrosis factor therapy (etanercept) and anti-interleukin 1 (IL-1) treatment (anakinra) in 6 cases resistant to colchicine therapy

Ailesel Kamptodaktili ve Periferik Nöropatili Üç Kız Kardeş

Camptodactyly, the flexion contracture of the proximal interphalangeal joint usually involves the small finger and may be a component of some autosomal dominant diseases, such as Marfan's syndrome, cranio-carpo-tarsal dystrophy and oculo-dento-digital dysplasia. Camptodactyly may also coexist with anomalies, such as high arched palate, anomalies of scapula, scoliosis, ptosis, hemi-hypertrophy and taurinuria. Hereditary autonomic and sensory neuropathies (HSAN) are a clinically and genetically heterogeneous group of inherited peripheral neuropathies, which primarily affect the peripheral sensory and autonomic nerves. Patients usually have prominent distal sensory loss with complaints of insensitivity to pain. Prominent distal sensory loss may cause chronic ulcerations in the feet and hands, and less frequently, severe complications as extensive soft tissue infections, osteomyelitis and amputations. Herein, we report three sisters with hereditary peripheral polyneuropathy associated with concomitant camptodactyly. Turk J Phys Med Rehab 2012;58:72-4.Wo

Mefv Mutation Frequency And Effect On Disease Severity In Ankylosing Spondylitis

Background/aim: To define the frequency of familial Mediterranean fever gene (MEFV) mutations in ankylosing spondylitis (AS) and describe different clinical aspects of MEFV mutation carrier and noncarrier AS patients. Materials and methods: In 112 AS patients, Bath Ankylosing Spondylitis Disease Activity Index (BASDAI) and Bath Ankylosing Spondylitis Functional Index (BASFI) scores were calculated. The frequencies of 12 different MEFV mutations were studied by multiplex polymerase chain reaction/reverse hybridization method and were compared to those of previously studied healthy controls for 5 common MEFV mutations. Results: MEFV mutations were identified in 46 of 224 (20%) alleles and in 39 (35%) of AS patients. The distribution of mutations was: M694V, 30% (14); E148Q, 30% (14); P369S, 17% (8); V726A, 13% (6); A744S, 8% (4); and K695R, 2% (1). There were no significant differences between MEFV mutation carriers and noncarriers with respect to sex, age of symptom onset, disease duration, peripheral joint involvement, acute phase reactant levels, and BASDAI and BASFI scores (P > 0.05 all). MEFV mutation allelic frequency was not different between AS patients and healthy controls after adjusting for mutations studied (34/224 versus 22/200; P > 0.05). Conclusion: Although we did not find significant clinical and laboratory differences between MEFV mutation carrier and noncarrier AS patients, further investigations are needed to define the impact of MEFV mutations on AS disease course.Wo