Ercan Madenci

Significance of catechol-O-methyltransferase gene polymorphism in fibromyalgia syndrome

Abstract. Fibromyalgia syndrome (FS) is associated with a neuroendocrinal disorder characterized by abnormal function of the hypothalamic-pituitary-adrenal (HPA) axis, including hyperactive adrenocorticotropic hormone (ACTH) release and adrenal hyporesponsiveness. Catechol-O-methyltransferase (COMT) enzyme inactivates catecholamines and catecholamine-containing drugs. Polymorphism in the gene encodes for the COMT enzyme. For this study, the significance of COMT polymorphism was assessed in FS. There were three polymorphisms of the COMT gene: LL, LH, and HH. The analysis of COMT polymorphism was performed using polymerase chain reaction (PCR). Sixty-one patients with FS and 61 healthy volunteers were included in the study. Although no significant difference was found between LL and LH separately, the LL and LH genotypes together were more highly represented in patients than controls (P=0.024). In addition, HH genotypes in patients were significantly lower than in the control groups (P=0.04). There was no significant difference between COMT polymorphism and psychiatric status of the patients as assessed by several psychiatric tests (P>0.05). In conclusion, COMT polymorphism is of potential pharmacological importance regarding individual differences in the metabolism of catechol drugs and may also be involved in the pathogenesis and treatment of FS through adrenergic mechanisms as well as genetic predisposition to FS.

Association of T102C polymorphism of the 5-HT2A receptor gene with pyschiatric status in fibromyalgia syndrome

Abstract. Serotonin (5-HT) is a key neurotransmitter in the central nervous system. It is suggested that serotonergic dysfunction may be involved in the pathophysiology of fibromyalgia syndrome (FS). In this study, we aimed to investigate T102C polymorphism of the 5-HT2A receptor gene in FS. Fifty-eight patients with FS and 58 unrelated healthy volunteer controls were included in the study. In both groups, the C/C, C/T, and T/T genotypes of the 5-HT gene were represented in 31% (22.4% in controls), 50% (53.4%), and 19% (24.1%), respectively. The 5-HT2A receptor gene polymorphism results were not significantly different between patients and controls (chi squared test, P>0.05). There was a significant correlation between patients with the T/T genotype and the subgroup according to the SCL-90-R test, (analysis of variance, P<0.05). We also saw that patients with the T/T genotype had the lowest pain threshold. Conclusion. T102C polymorphism of the 5-HT2A receptor gene is not associated with the etiology of FS. Our results also indicate that the T/T genotype may be responsible for psychiatric symptoms of FS.

Expert opinion and key recommendations for the physical therapy and rehabilitation of patients with ankylosing spondylitis

Aim:  Physiotherapy is an integral part of the management of ankylosing spondylitis (AS) and there is a need for recommendations which focus on the rehabilitation of patients with AS. We aimed to develop recommendations for the physical therapy and rehabilitation of patients with AS based on the evidence and expertise.

Neurotologic manifestations of the fibromyalgia syndrome

The purpose was to assess otologic symptoms, and audiologic and vestibular findings in fibromyalgia (FM) syndrome. Twenty-four female patients with FM syndrome (FMS) were included in the study. The assessments were based on history, physical examination, audiometry, bithermal caloric testing and auditory brainstem response (ABR) testing. Dizziness was the most common complaint of the patients, and was followed by tinnitus, hearing loss and vertigo. Almost 50% of the patients had some sort of otologic symptoms.Dix-Halpike maneuver proved positional rotary vertigo in 5 (20.8%) patients. The audiometry results of 23 patients were normal. None of the patients had abnormal bithermal caloric testing. Although there were a variety of ABR abnormalities, the ABR results of the patients with and without cochleovestibular symptoms were not significantly different (p<0.05). In conclusion, FM patients can complain otologic symptoms even though they do not have any clinically or audiologically detectable ear disease. A neural disintegration or some other events related to neural mediators may be the mechanisms involved in the pathogenesis of otoneurologic as well as systemic manifestations of the disease that possibly leads to abnormal perception of the stimuli coming from internal or external environment.

Alendronate treatment in osteogenesis imperfecta.

Aims:Osteogenesis imperfecta (OI) is a chronic, disabling condition characterized by bone fragility resulting from defective production of type I collagen. Pamidronate therapy is the most extensively studied treatment and has proved beneficial. Our objective was to evaluate the effect of alendronate, a more potent bisphosphonate than pamidronate, in OI. Materials and Methods:Three patients (age, 3–7 years; mean, 5 years) (one case, type III; 2 cases, type IV) have been given alendronate (0.3–0.56 mg/kg per day orally) for 2 years. Number of fractures, ambulation, height growth, and bone mineral density by dual-energy x-ray absorptiometry (DXA) were followed up. Results:Bone mineral density improved significantly after the 2-year alendronate treatment, which increased by 47.8% to 106.6% in the lumbar spine and by 24% to 51.4% in forearm bones. The z-score of lumbar spine DXA values increased from −5.26 ± 0.84 to −3.1 ± 0.59. The mean of fracture rates did not change significantly. Only one of the patients was highly limited in ambulation. She had curved legs and could not sit without support before the treatment. She improved to walk with help by the treatment. Serum parathormone and alkaline phosphatase concentrations did not change significantly. No side effect was detected in clinical and laboratory evaluations. Conclusion:The study suggests that alendronate is a safe and well-tolerated drug and that it could increase bone density in children with OI, all of which encourage further studies with the bisphosphonates that are more potent than pamidronate and can be used orally. In addition, this study is the first report using the forearm bone mineral density measurement in OI.

Hand deformity in rheumatoid arthritis and its impact on the quality of life

Abstract Objective: For the purpose of this study, we assessed the frequency of hand deformities in rheumatoid arthritis (RA) as well as the impact of these deformities on the quality of life of the patients. Method: A group of 87 consecutive patients who had been admitted to the Department of Physical Medicine and Rehabilitation of our University Hospital between 2000 and 2002 were included in the study. 66 (76%) were females and, 21 (24%) were males with definite or classical RA. Patients who had undergone articular surgery or had warm and swollen joints were excluded. A protocol was designed to record age, dominant hand, duration of disease, and results of the physical examination. Hand disability was assessed by using a special hand disability index, which was composed by seven items. Result: There was hand deformity in 71 (81.5%) patients. The most common hand deformity was flexor tenosynovitis (64.5%). The other deformities were ulnar deviation (39.5%), boutonniere deformity (29.5%) and swan neck de...

Comparison of the Efficacy of Ultrasound and Extracorporeal Shock Wave Therapies in Patients with Myofascial Pain Syndrome: A Randomized Controlled Study

Abstract Objective: Evaluation and comparison of the efficacy of ultrasound [US] and extracorporeal shock wave therapy [ESWT] in the treatment of myofascial pain syndrome. Methods: Sixty-six patients with active myofascial trigger points in the trapezius muscle were randomized into treatment groups with US and three sessions of ESWT. Efficacy of the therapies were evaluated prior to therapy at 3 weeks and at 3 months of therapy using the Patient Global Assessment and Physician’s Global Assessment scales, Neck Pain and Disability Scale, Nottingham Health Profile, and Hamilton Anxiety Scale. Results: No severe complications were encountered with US and ESWT, and patients tolerated the therapies well overall. Statistically significant improvement was determined in the number of trigger points, pain, quality of life, and anxiety scores in post-therapy evaluations [p < 0.01]. Efficacy of therapies in inter-group comparison was evaluated in terms of improvement in the same scores, and the ESWT group had greater improvement when the anxiety scores were excluded [p < 0.05]. Conclusion: Our results indicated that both US and ESWT were effective and safe treatment modalities in myofascial pain syndrome. Three sessions of low dosage ESWT was more effective compared to US therapy that could be used as an effective and safe modality in the treatment protocols of myofascial pain syndrome.

High-Dose Steroid-Induced Protrusio Acetabuli: A Case Report

The aim of presenting this case was to demonstrate that using high doses of corticosteroids which are not directly involved in etiological factors can cause secondary protrusio acetabuli. Protrusio acetabuli is identified with an acetabular line projecting ilioischial line for 3 mm in males and 6 mm in females on antero-posterior radiographs of the pelvis. This is the first case seen in the literature, despite various studies conducted about the etiology, no common factor was found. In 1939, Gilmour classified them as following; the group, in which any underlying pathology can not be shown as primary, and the group that progress protrusio as a result of any underlying pathology as secondary. The patient was a 73 year-old woman with pain, loss of ROM in right hip and difficulty in walking for 2 years. Four years ago with a diagnosis of eosinophilic pneumonia she received prednisolone (1 mg/kg/day). She was constantly using salmeterol+fluticasone (500/50 mcg) ) twice daily. Bone mineral density and other laboratory findings were normal. The cause of the patient’s right hip pain was associated to the acetabular protrusion which progressed rapidly within two years due to use of steroid and osteoarthritis progressing secondarily to acetabular protrusion. To the best of our knowledge this case is seen in the literature for the first time. It should not be disregarded that such patients may show clinical progression in a short time. Therefore, drug history of the patients with hip pain should be evaluated in detail and treatments should be determined accordingly. (Turkish Journal of Osteoporosis 2015;21: 34-6)

Multifocal skeletal tuberculosis presenting as paraplegia: A case report

BACKGROUND Tuberculosis of the musculoskeletal system is not a common clinical condition; however, multifocal bone involvement is even rarer and difficult to recognize. CASE In this paper, we presented a patient who developed paraplegia 15 days before his hospital admission. He was operated by neurosurgeons due to spinal mass, but postoperative examination revealed vertebral and multifocal skeletal tuberculosis. It is difficult to diagnose this condition by conventional imaging methods. The importance of positron emission tomography (PET) in the diagnosis of skeletal tuberculosis was emphasized. RESULT The importance of rehabilitation program in restoring functionality was overviewed in the light of current literature. Vertebral and osteoarticular tuberculosis should be considered in patients with vertebral and thoracic mass presenting with neurological deficits.

Minor Poland's Syndrome Mimicking Localized Lipoatrophy

To the Editor: Poland’s syndrome (PS) is a congenital deformity consisting of pectoral girdle muscle deficiency and ipsilateral syndactyly. The constitutive mark of the condition is the absence of the pectoralis major muscle, present in 100% of the cases (1). More than 75% of the defects associated with this syndrome are present on the right side. Additional defects that have been reported sporadically include hemivertebrae, renal anomalies, dextrocardia, and springel deformity (2). The nomenclature and distinction between lipoatrophy and lipodystrophy is confusing. However, in general, lipoatrophy refers to a loss of fat, while lipodystrophy may refer either to a loss or gain. For practical purposes, one can treat fat atrophy and fat dystrophy as synonyms (3). There are bewildering arrays of lipoatrophies that can be divided into localized and systemic forms; some of them are congenital or others acquired (4). Patients with lipoatrophy may have one or more scattered areas of loss of subcutaneous fat (5). Trauma probably plays a frequent role in localized lesions, but the condition may also start de novo mysteriously. In more diffuse lesions, especially congenital ones, the endocrine control of fat metabolism is probably altered, often caused by abnormal insulin or insulin like growth factor receptors (3). Case Report: A five-year-old boy first sought medical attention for a painful swelling on his left popliteal fossa of one year’s duration. A diagnosis of Baker’s cyst (BC) was entertained after ultrasonographic examination. An obvious depressed area was noted on the right side of the chest in physical examination (Fig. 1). The parents first noticed the depression when the patient was one year old. However, it was neglected for a long period of time. The remaining physical examination was found to be normal. There was no family history of similar lesions, and the patient had been born by Cesarean section at full term. Radiological examination of his thorax and electrocardiographical examination did not reveal any abnormalities. Routine laboratory investigations including complete blood count, serum glucose, immunoglobulins, and complement were within normal ranges. Urinalysis was found to be normal. The Journal of Dermatology Vol. 29: 815–817, 2002