Gebe olmayan bir kadında kalçanın idiopatik geçici osteoporozu: vaka çalışması

Kalçanın geçici osteoporozu (KGO) öncelikle orta yaşlı erkekleri ve ge- beliğin üçüncü trimestrindeki dönemindeki kadınları etkileyen nadir bir hastalıktır. KGO kalça ağrısı ve radyolojik olarak eklem aralığında daralma veya destrüksiyon olmaksızın ortaya çıkan geçici osteopeni ile ilişkilidir. Kadınlar için tanımlanmış tek risk faktörü gebeliktir. Tipik olarak semp- tomların kendiliğinden rezolüsyonu ile benign bir seyir gösterir. Radyog- rafiler erken dönemde belirti vermeyebilir. Bu nedenle, geçici osteoporoz avasküler nekroz gibi çok sayıda diğer hastalıklarla karışabilir. Erken dö- nemlerde bu iki hastalığın birbirinden ayırt edilmesi uygun tedavi planı- nın seçilebilmesi için önemlidir. Bu yazıda, gebelik de dahil olmak üzere herhangi bir risk faktörü olmayan ve konserevatif tedavi ile yeterli iyileşme gösteren KGO’lu 35 yaşındaki kadın hasta sunulmuştur.Türk Fiz T›p Re­hab Derg 2013;59:157-60.Transient osteoporosis of the hip (TOH) is a rare disease affecting women in the third trimester of pregnancy as well as middle-aged men. TOH is associated with hip pain and temporary osteopenia apparent on radiology without joint space narrowing or destruction of the hip. Pregnancy is the only recognized risk factor for women. It typically runs a benign course with eventual resolution of symptoms. Radiographs may be unrevealing early in its course. Therefore, transient osteoporosis may be confused with many other conditions such as avascular necrosis. In early stages, it is important to distinguish between these two conditions to order to decide on an appropriate treatment plan. In this report, we present a 35-year-old woman who had TOH, without any risk factor including pregnancy, and showed sufficient improvement with conservative treatment. Turk J Phys Med Rehab 2013;59:157-60

The Role of Mediterranean Fever Mutation in the Clinical Course and Pathogenesis of Ankylosing Spondylitis

Objectives: This study aims to investigate the role of Mediterranean fever (MEFV) gene mutations in the pathogenesis and clinical progression of disease in ankylosing spondylitis patients. Patients and methods: The study included 88 patients (60 males, 28 females; mean age 38.7±8.7 years; range 19 to 56 years) diagnosed with ankylosing spondylitis according to modified New York criteria. The patients were evaluated for peripheral joint and hip joint involvement and treatment characteristics. Using multiplex/polymerase chain reaction reverse hybridization method, the presence of 12 different MEFV mutations was investigated. Results: Of 29 patients, heterozygote mutation was detected in 24 (83%), mutations in both alleles were detected in three (10%), and combined heterozygote mutations were detected in two patients (7%). Three most common mutations were M694V (11.3%), E148Q (8%), and V726A (4.5%). In the group with mutations, symptoms had started earlier than in the other group, and the number of peripheral joints involved was higher. When both characteristics were compared with the characteristics of the group that did not have any gene mutations, the differences were statistically significant (p<0.001 and p=0.044, respectively). The highest correlation with the number of peripheral joints involved was determined for M694V mutation (p=0.034), while onset of symptoms at younger age was correlated with E148Q mutation (p=0.010). Conclusion: Based on the findings of this study and our clinical experience, it can be said that the clinical progression of ankylosing spondylitis patients with MEFV gene mutations is more severe, and this suggests that MEFV gene mutations may be contributive to ankylosing spondylitis pathogenesis.Objectives: This study aims to investigate the role of Mediterranean fever (MEFV) gene mutations in the pathogenesis and clinical progression of disease in ankylosing spondylitis patients. Patients and methods: The study included 88 patients (60 males, 28 females; mean age 38.7±8.7 years; range 19 to 56 years) diagnosed with ankylosing spondylitis according to modified New York criteria. The patients were evaluated for peripheral joint and hip joint involvement and treatment characteristics. Using multiplex/polymerase chain reaction reverse hybridization method, the presence of 12 different MEFV mutations was investigated. Results: Of 29 patients, heterozygote mutation was detected in 24 (83%), mutations in both alleles were detected in three (10%), and combined heterozygote mutations were detected in two patients (7%). Three most common mutations were M694V (11.3%), E148Q (8%), and V726A (4.5%). In the group with mutations, symptoms had started earlier than in the other group, and the number of peripheral joints involved was higher. When both characteristics were compared with the characteristics of the group that did not have any gene mutations, the differences were statistically significant (p<0.001 and p=0.044, respectively). The highest correlation with the number of peripheral joints involved was determined for M694V mutation (p=0.034), while onset of symptoms at younger age was correlated with E148Q mutation (p=0.010). Conclusion: Based on the findings of this study and our clinical experience, it can be said that the clinical progression of ankylosing spondylitis patients with MEFV gene mutations is more severe, and this suggests that MEFV gene mutations may be contributive to ankylosing spondylitis pathogenesis