HYPERTROPHIC OSTEOARTHROPATHY IN A PATIENT WITH HETEROZYGOUS MUTATION IN THE SLCO2A1 GENE: A CASE REPORT

Hypertrophic osteoarthropathy (HOA) is a condition characterized by aberrant skin and osseous tissue proliferation in the distal extremities. Mutations in the 15-hydroxyprostaglandin dehydrogenase gene (HPGD) and the soluble carrier organic anion carrier family member 2A1 gene (SLCO2A1) were associated with primary HOA. Secondary HOA, which is also called as 'hypertrophic pulmonary osteoarthropathy' is responsible for 95-97% of cases. Herein, we present a 19-year-old female patient with primary HOA and heterozygous mutation in the SLCO2A1 gene

Demographic, Phenotypic and Genotypic Features of Alkaptonuria Patients: A Single Centre Experience

Aim:Alkaptonuria (AKU) is an autosomal recessively inherited disease caused by a deficiency of homogentisate 1,2-dioxygenase. This enzyme converts homogentisic acid (HGA) into maleylacetoacetic acid in the tyrosine degradation pathway. The presence of HGA in urine, ochronosis (bluish-black pigmentation in connective tissues) and arthritis of the spine and the other large joints are the three major features of AKU. Nitisinone and a tyrosine-restricted diet are the treatment options. In this study, we evaluated the demographic and clinical characteristics and also the mutations of our AKU patients.Materials and Methods:This retrospective single centre study included 36 patients who were diagnosed as AKU between the years of 2002 and 2017 Çukurova University Faculty of Medicine, Department of Pediatrics, Division of Metabolism and Nutrition.Results:Thirty six AKU patients were included (17 female, 19 male) in our study. The mean age of the patients was 9.3±13.4 years (3 months-54 years). The major complaints were darkening of the urine (100%), ochronosis (11.1%), arthralgia (16.7%) and arthritis (8.1%). Darkening of the urine was firstly recognized at the age of 8.89±16.9 months (1-84 months). Eighteen (86%) patients had homozygous and 3 (14%) patients had compound heterozygous mutations in the HGD gene.Conclusion:AKU was the first inherited metabolic disease defined. The three main features are; darkening of the urine at birth which is followed by ochronosis (blue-dark pigmentation) clinically visible in the ear and alae of the nose and finally a severe ochronotic arthropathy of the spine and large joints at around the age of 50 years. Here we report on the clinical and genetic features of our patients at various ages

Hemiplejik olgularda refleks sempatik distrofi sendromu ve Sempatik deri yanıtlarının normal olgularla karşılaştırılması

TEZ907Tez (Uzmanlık) -- Çukurova Üniversitesi, Adana, 1991.Kaynakça (s. 46-50) var.50 s. : rnk. res. ; 30 cm.

The Importance of Exercise in Treatment of Ankylosing Spondylitis

Ankilozan Spondilit (AS), özellikle vertebral kolonda inflamasyonla karekterize seronegatif spondiloartropati grubunun prototipi olan kronik, sistemik romatizmal bir hastalıktır. Bu hastalık, kalıtsal bir hastalıktır ve tedavisi yoktur. Sadece hastaların yaşam kalitelerini arttırmaya yönelik ilaç ve egzersiz tedavisi önerilir. İlaç tedavisi kadar egzersiz tedavisine önem verilmemektedir ya da egzersiz tedavisi kısıtlı yapılmaktadır. Bu hastalığın tedavisi ile ilgili olarak literatür incelendiğinde; ilaç tedavisi kadar egzersiz tedavisinin de önemi vurgulanmaktadır. Bu makalede, ankilozan spondilit tedavisinde egzersizin önemi tartışılmış ve güncel literatür gözden geçirilmiştir.Ankylosing Spondylitis (AS) is a chronic, systemic, rheumatic disease that is a prototype of seronegative spondyloarthopathies characterized by inflammation, especially at the spinal column. This disease is hereditary and cannot be treated. The only suggested treatments of which are exercise and drug are for increasing the quality of life in people with AS. The exercise is not considered as important as the drug treatment or the exercise treatment is limited. A growing body of research reveals that exercise is as crucial as drug treatment in the management of AS. In this article, the importance of exercise in treatment of ankylosing spondylitis is discussed with the evaluation of current literature

Femoroacetabular Impingement Syndrome

Femoroasetabuler sıkı?ma sendromu  özellikle  genç  ve  aktif  ki?ilerde  erken  osteoartrite  yol  açabilen  kalça ağrısı nedenlerinden biridir. Ana problemin femur ba?ı ve asetabulum arasında olu?an anormal  temas  sonucu  geli?tiği  dü?ünülmektedir.  Özellikle  genç  eri?kinlerde  yava?  ba?layan  kalça  ağrısı  ile  kendini  gösterir.  Femoroasetabuler  sıkı?ma  sendromunun  cam  (tümsek­femoral),  pincer  (  kıskaç­ asetabuler)  ve  mikst  olmak  üzere  3  tipi  vardır.  Klinik  hikaye,  fonksiyonel ve  aktivite  durumu,  fizik  muayene  bulguları  ve  radyografi  ile  tespit  edilebilir.  Tedavisi  öncelikle  aktivite  kısıtlanması  veya  modifiye edilmesi ve ağrı kontrolünü içeren konservatif tedavi ve cerrahi tedavidir.Femoroacetabular impingement syndrome, which might lead to early osteoarthritis, serves as a reason  of hip pain. The main problem is considered as the abnormal contact between the femoral head and  the  acetabulum.  In general,  it presents  as slowly  progressing hip pain  in  young  adults.  There  are  3  types  of  femoroacetabular  impingement  syndrome including  the  cam,  pincer  and  mixt  types.  The  diagnosis  is  based  upon  the  clinical  history,  functional  activity  status,  physical  examination  and  radiologic  evaluation.  The  treatment  is  comprised  of  conservative  regimen  (activity  limitation/modification and pain control) and surgery

Femoroacetabular Impingement Syndrome

Femoroacetabular impingement syndrome (FAI), which might lead to early osteoarthritis, serves as a reason of hip pain. The main problem is considered as the abnormal contact between the femoral head and the acetabulum. In general, it presents as slowly progressing hip pain in young adults. There are 3 types of FAI including the cam, pincer and mixt types. The diagnosis is based upon the clinical history, functional activity status, physical examination and radiologic evaluation. The treatment is comprised of conservative regimen (activity limitation/modification and pain control) and surgery. [Archives Medical Review Journal 2016; 25(2.000): 207-222

Quality of life and health outcome assessment questionnaires

Yaşam kalitesi, sağlık durumu ve tedavi etkilerinin değerlendirilmesinde önemli bir sonuç ölçümüdür. Sağlıkla ilişkili yaşam kalitesi esas olarak kişinin sağlığı tarafından belirlenen, klinik girişimlerle etkilenebilen genel yaşam kalitesinin bir bileşenidir. Dünya Sağlık Örgütünün (WHO) Uluslararası Yetersizlik, Özürlülük ve Engellilik Sınıflaması (ICIDH) 2001'de gözden geçirilerek Uluslararası Fonksiyon, Özürlülük ve Sağlık Sınıflaması (ICF) olarak yayınlanmıştır. ICF'de ICIDH'deki nedensel görüş yerine sağlığın bileşenleri veya kavramların etkileşimi söz konusudur. ICF'de kişisel faktörler de göz önüne alındığından yaşam kalitesinin değerlendirmesinde daha kapsamlı bilgi sağlamaktadır. Bu derlemede ICF çerçevesi ile yaşam kalitesi ve sağlık sonuçlarının değerlendirilmesinde sık kullanılan jenerik ve hastalığa spesifik anketler özetlenmiştir.Quality of Me (QOL) is an important outcome measure for health condition and the evaluation of treatments. Health related quality of life is the component of overall quality of life that is determined primarly by the person's health and which can be influenced by clinical interventions. The International Classification of Impairment, Disability and Handicap (ICIDH) published by World Health Organisation (WHO) was revised in 2001 as International Classification of Functioning, Disability and Health (ICF). In ICF, the view of -components of health- or -interactions between components- was accepted instead of the old causal view. Since the new ICF framework also defines the personal factors, it can be used to obtain more information about QOL.In this review, ICF framework and frequently used generic and disease spesific questionnaires for evaluating QOL and health outcomes are overviewed

Reeducation of hemiplegic shoulder by using EMG biofeedback

WOS: 000437950900024Purpose: The aim of our study was to evaluate the effect of EMG biofeedback on hemiplegic shoulder reeducation. Materials and Methods: A total of 30 patients were included in the study. 10 sessions of EMG biofeedback training was given to the upper trapezius muscle on the affected side of the patients during shoulder movements to provide relaxation. Patients were evaluated before and after treatment; the myoelectric activity and tone of the upper trapezius muscle, and only the tone of the deltoideus muscle. Manual Function Test was used to assess functional recovery of the shoulder. Results: At the end of the treatment, it was seen that there was a decrease in the tone of the upper trapezius muscle and myoelectric activity and an increase in the tone of the deltoideus muscle. According to MFT results, there was a significant improvement in the percentage of shoulder function at the end of treatment. There was no improvement in hand function. In our study, EMG biofeedback training was found to be effective in improving shoulder function in hemiplegic patients. Conclusion: Preliminary results in this study suggested that in hemiplegic patients, the use of EMG biofeedback with shoulder exercises in the clinic, resulted in favorable outcomes in the treatment

Reeducation of hemiplegic shoulder by using EMG biofeedback

Amaç: Çalışmamızın amacı, EMG biofeedback’in hemiplejik omuzun yeniden eğitimi üzerindeki etkisinin değerlendirilmesidir. Gereç ve Yöntem: Çalışmaya toplam 30 hasta alındı. Hastaların tutulan tarafında yer alan üst trapezius kasına, omuz hareketleri sırasında, relaksasyon sağlamak amacıyla 10 seans EMG biofeedback eğitimi verildi. Hastaların, tedavi öncesi ve sonrasında; üst trapezius kasının myoelektrik aktivitesi ile tonusu, deltoideus kasının ise sadece tonusu ölçüldü. Omuzdaki fonksiyonel iyileşmeyi değerlendirmek için Manuel Fonksiyon Testi kullanıldı. Bulgular: Tedavi sonunda üst trapezius kasının tonusunda ve myoelektrik aktivitesinde azalma, deltoideus kasının tonusunda ise artma olduğu görüldü. MFT sonuçlarına göre, tedavi sonunda omuz fonksiyonelliğinde yüzdece anlamlı bir iyileşme olduğu tespit edildi. El fonksiyonlarında ise herhangi bir iyileşme olmadı. Sonuç: Çalışmamızda EMG biofeedback eğitiminin, hemiplejik hastalarda omuz fonksiyonlarının iyileştirilmesi üzerine etkili olduğu görüldü. Hemiplejik hastalarda, EMG biofeedback ile yapılan omuz egzersizlerinin kliniklerde kullanılmasıyla tedavide olumlu sonuçlar alınabileceği sonucuna varıldı.Purpose: The aim of our study was to evaluate the effect of EMG biofeedback on hemiplegic shoulder reeducation. Materials and Methods: A total of 30 patients were included in the study. 10 sessions of EMG biofeedback training was given to the upper trapezius muscle on the affected side of the patients during shoulder movements to provide relaxation. Patients were evaluated before and after treatment; the myoelectric activity and tone of the upper trapezius muscle, and only the tone of the deltoideus muscle. Manual Function Test was used to assess functional recovery of the shoulder. Results: At the end of the treatment, it was seen that there was a decrease in the tone of the upper trapezius muscle and myoelectric activity and an increase in the tone of the deltoideus muscle. According to MFT results, there was a significant improvement in the percentage of shoulder function at the end of treatment. There was no improvement in hand function. In our study, EMG biofeedback training was found to be effective in improving shoulder function in hemiplegic patients. Conclusion: Preliminary results in this study suggested that in hemiplegic patients, the use of EMG biofeedback with shoulder exercises in the clinic, resulted in favorable outcomes in the treatment

Rehabilitation of our cases with total knee replacement

Total diz protezi, günümüzde diz eklemi kronik artritlerinin tedavisinde sık uygulanmaktadır. Bu olgularda rehabilitasyonun amacı, hastaya operasyon sonrası optimum düzeyde eklem hareket açıklığı ve fonksiyonu kazandırmaktır, Bu çalışmada, 23 total diz protezinin rehabilitasyon sonuçlarının değerlendirilmesi amaçlandı. Olguların 14'ü kadın, 4'ü erkek olup yaş ortalamaları 60.4 (32-75) idi. Etyolojik faktör olarak 13 dizde dejeneratif eklem hastalığı, 10'unda ise romatoid artrit mevcuttu. Olguların hastanede yatış süreleri ortalama 10 gün olup, 12 aylık takip süreleri sonunda preop ve postop diz fleksiyon açıları arasında anlamlı farklılık bulundu (p=0.05). Diz Cemiyeti değerlendirme Kriterlerine göre ise diz skoru ile fonksiyonel skorda belirgin artış saptandı.REHABILITATION OF OUR CASES WITH TOTAL KNEE REPLACEMENT Today, total knee replacement is the procedure of choice in the treatment of advanced arthritis. In such cases the aim of rehabilitation is to restore the optimum range of motion and function. In this study, we aimed to evaluate the outcome of rehabilitation in 23 total knee replacement. 14 cases were females and 4 were males, mean age being 60.4 years (range 32-75 years). 13 knees had primary degenerative joint disease and 10 had rheumatoid arthritis as the causative factor. The mean duration of hospitalization was 10 days arid in the 12 months follow up there were significant differences between the preoperative and postoperative knee flexion angles (p=0.05). There were also significant increases in the knee scores and the functional scores according to the Knee Society Rating System riteria