Hasan Ulusoy

Pattern of Disease Onset, Diagnostic Delay, and Clinical Features in Juvenile Onset and Adult Onset Ankylosing Spondylitis

Objective. To assess the frequency of juvenile onset ankylosing spondylitis (JOAS) in Turkish patients with AS and to compare with adult onset AS (AOAS) in a cross-sectional study design. Methods. A total of 322 patients were recruited from the joint database of 5 university hospitals in eastern Turkey. Results. Patients with JOAS (n = 43, 13.4%) had significantly longer diagnostic delay (9.21 vs 5.08 yrs), less severe axial involvement and more prevalent uveitis (OR 2.92, 95% CI 1.25–6.79), and peripheral involvement at onset (OR 3.25, 95% CI 1.51–6.98, adjusted for current age; and OR 2.26, 95% CI 1.07–4.76, adjusted for disease duration). Patients with AOAS had higher radiographic scores and more restricted clinimetrics but similar functional limitations and quality of life. Conclusion. JOAS and AOAS had distinctive courses and Turkish patients with AS had similar features compared to other Caucasian patient populations.

Comparison of the Diagnostic Utility of Electromyography, Ultrasonography, Computed Tomography, and Magnetic Resonance Imaging in Idiopathic Carpal Tunnel Syndrome Determined by Clinical Findings

BACKGROUND Carpal tunnel syndrome (CTS) is the most common nerve entrapment syndrome. It is sometimes difficult to diagnose, and a late diagnosis may result in permanent nerve damage. Electromyography (EMG), ultrasonography (US), magnetic resonance imaging (MRI), and computed tomography (CT) may be performed for the diagnosis. The diagnostic accuracy of these tests is well documented, but most of these studies accept EMG as the gold standard. OBJECTIVE To evaluate the diagnostic accuracy of EMG, MRI, CT, and US for the diagnosis of carpal tunnel syndrome with the use of clinical findings as the gold standard. METHODS Patients suspected to have CTS on presentation to the outpatient clinic were evaluated. The tests were performed after a detailed physical examination. Both wrists of the 69 patients in the study were investigated. RESULTS : The diagnostic accuracies of all the tests were found to be sufficient. Although EMG seemed to have the highest sensitivity and specificity, there was no statistically significant difference between the tests. CONCLUSION EMG or US could be used as the first-step test in most cases. If they are both available, EMG should be the first choice. They may be performed together when diagnosis is challenging. CT may especially be preferred for bone-related pathological conditions, whereas MRI may be preferred for soft tissue-related pathological conditions. Even though imaging studies have been proven to be powerful diagnostic tools for CTS, no conclusive information currently exists to support replacing EMG with imaging studies.

Fibrodysplasia ossificans progressiva without characteristic skeletal anomalies

Fibrodysplasia ossificans progressiva (FOP) is a rare but extremely disabling genetic disease of the skeletal system. This disease is characterized by progression of heterotopic ossification within skeletal muscles, ligaments and tendons. Most patients with FOP are misdiagnosed early in life before the appearance of heterotopic ossification and undergo diagnostic procedures such as biopsy that can cause lifelong disability. Almost all of the patients have some peculiar congenital anomalies, including short great toes, hallux valgus, short thumbs and hypoplasia of digital phalanges. These congenital defects support the diagnosis of FOP, but are not constantly observed in the totality of patients. If necessary, genetic studies can be performed to confirm the diagnosis. Once diagnosed, patients should be advised in order to avoid unnecessary traumas, surgical procedures, biopsies, intramuscular injections and vaccinations. Here, we describe a patient with FOP without characteristic congenital skeletal anomalies.

Unusual unilateral presentation of pachydermodactyly: a case report

Pachydermodactyly is a rare digital fibromatosis characterized by asymptomatic fusiform soft-tissue swellings of the proximal interphalangeal joints of the hands. It usually affects healthy adolescent males with a negative family history. As a rule, clinical presentation of the disease is bilateral and symmetrical enlargement of the joints. So it can be misdiagnosed with inflammatory rheumatic diseases, especially with juvenile chronic arthritis. A prompt clinical diagnosis of the disease would prevent inappropriate treatment with immunosuppressive agents or steroids and unnecessary expensive diagnostic procedures such as biopsy or magnetic resonance imaging. Once diagnosed, patients should be advised in order to avoid repetitive traumas of the hands, rubbing and cracking of the fingers, obsessive–compulsive use of computer and video games. The joint outcome is always benign. Here, we report a case of pachydermodactyly differs from the typical clinical picture of pachydermodactyly in the unilateral distribution of the lesions.

The performance of psoriatic arthritis classification criteria in Turkish patients with psoriatic arthritis

To investigate performance of some of the published psoriatic arthritis (PsA) classification criteria as well as Assessment of Spondyloarthritis International Society (ASAS) criteria for peripheral spondyloarthritis (SpA) in Turkish patients with PsA (in early and late disease subgroups).

Serum heat-shock protein-65 antibody levels are elevated but not associated with disease activity in patients with rheumatoid arthritis and ankylosing spondylitis

Objectives Heat-shock proteins (HSPs) have gained increased interest for their role in autoimmune disorders. These proteins are targeted by the immune system in various autoimmune diseases. The aim of this study was to assess the serum heat-shock protein-65 antibody (anti-HSP65) levels and their clinical significance in patients with rheumatoid arthritis (RA) and ankylosing spondylitis (AS). Patients and methods A total of 30 patients with RA, 30 patients with AS, and 30 healthy controls were enrolled in this study. All patients were assessed using routine clinical and laboratory evaluations. Serum anti-HSP65 levels were determined by ELISA. Results Serum anti-HSP65 levels of both RA and AS patients were significantly higher than those of controls (p=0.014 and p=0.001, respectively). No association was found between serum anti-HSP65 levels and disease activity in either RA or AS patients. There was a significant correlation between anti-HSP65 and anti-cyclic citrullinated peptide levels in patients with RA (p=0.024). Conclusion In this study, serum anti-HSP65 levels were increased, but not associated with disease activity in both RA and AS patients. These results suggest that HSP antigens may play a role in the pathogenesis. However, further follow-up studies are needed. Identification of target antigens such as HSP65 is vital to developing new immunotherapeutic agents.

Is 4-Hydroxynonenal a Predictive Parameter for the Development of Joint Erosion in Patients With Rheumatoid Arthritis?

Objectives This study aims to evaluate serum 4-hydroxynonenal (4-HNE) levels and its clinical and radiological significance in patients with rheumatoid arthritis (RA). Patients and methods The study included 40 patients (8 males, 32 females; mean age 51.4±11.2 years; range 24 to 72 years) with RA and 30 healthy controls (8 males, 32 females; mean age 53.0±11.7 years; range 24 to 72 years. Serum 4-HNE levels were measured using sandwich enzyme-linked immunosorbent assay method. Patients with disease activity score 28 ≤3.2 and >3.2 were allocated into low and high/moderate disease activity groups, respectively. Additionally, patients were divided into two groups as early RA (disease duration ≤2 years) and established RA (disease duration ≥2 years). Functional disability was evaluated using health assessment questionnaire. Radiographs were scored using the modified Larsen scoring. Results Serum 4-HNE levels in patients with RA were significantly higher than controls (p=0.001). Serum 4-HNE levels did not correlate with laboratory or clinical parameters of disease activity including erythrocyte sedimentation rate, C-reactive protein, disease activity score 28, and health assessment questionnaire. Serum 4-HNE levels were higher in patients with established RA than patients with early RA (r=0.487, p=0.001). Besides, modified Larsen score which indicates structural damage correlated significantly with serum 4-HNE levels (p=0.001). Conclusion These results indicate that serum 4-HNE levels may be used as an indicator for structural damage such as erosions in the early stage of RA; however, they are not efficient to monitor disease activity.

Reply to Dua SG et al.

We thank Dua SG et al. [1] for their contributions and their interest in our case report recently published. We appreciate their elaboration of several details of the case. Two clinical features deWne classical Wbrodysplasia ossiWcans progressiva (FOP): congenital malformations of the great toes and progressive heterotopic ossiWcation in aponeuroses, fascia, ligaments, tendons, and skeletal muscles [2]. Individuals with FOP appear normal at birth except for the characteristic malformations of the great toes that are present in all classically aVected individuals [3]. Our patient’s great toes are normal in both clinical and radiological examination. However, the absence of abnormal great toes does not exclude the diagnosis of FOP, because the incidence of abnormal great toes has been quoted as 79–100% in representative series [4–8]. Additionally, malformation of the great toes is not uniform. Connor and Evans have deWned four subtypes of the great toe malformations [7]. Tip I, great toes are short and have only a single phalanx. Tip II, great toes are normal in length, but show progressive bony fusion with increasing age. Patients with tip IV great toes have variable reduction defects in all toes. Interestingly, tip III great toes are clinically and radiologically normal except for osteophytic lipping with increasing age. Our patient may be a variation of the tip III great toes. In addition to malformations of the great toes, children with FOP may have other less penetrant skeletal malformations, including malformations of the thumbs (»50% of patients), orthotopic fusions of the posterior elements of cervical spine (»80% of patients), short broad femoral necks (»50% of patients), and proximal medial tibial osteochondromas (»90% of patients) [3, 9, 10]. Although the absence of these skeletal malformations in a patient with characteristic clinical presentation does not exclude the diagnosis of FOP, their presence individually or in combination further strengthens the diagnosis [3]. Similar to our case, Tonholo-Silva et al. [11] reported a patient with FOP, although there were widespread heterotopic ossiWcations, the characteristic skeletal malformations of FOP were not mentioned. Heterotopic ossiWcation usually begins in the cervical and dorsal paraspinal muscles, then spreads from axial to appendicular and cranial to caudal; in these typical patients, radiographs of the cervical spine usually show various vertebral abnormalities and progressive bony ankylosis of the cervical spine [2, 3]. We did not show any abnormality or bony ankylosis of the cervical vertebrae in our patient. However, it is well known that the disease may rarely (»10% of patients) begin at the limbs [7]. Our patient’s complaints have started around the left scapular area and then condensed at the lower limbs, so the cervical spine abnormalities or bony ankylosis may have not been found in the patient. The genetic mutation causing FOP is a recurrent single nucleotide substitution in the gene encoding activin receptor IA (ACVR1). This mutation has been found in all of the individuals with classic FOP. But, recently, diVerent ACVR1 gene mutations have been reported, and phenotypic diVerences among FOP patients, such as skeletal malformations, may be related with diVerent ACVR1 gene mutations [12, 13]. H. Ulusoy (&) Division of Rheumatology, Department of Physical Medicine and Rehabilitation, Faculty of Medicine, Firat University, Elazig, Turkey e-mail: ulusoyh@mynet.com