Assessment of hand function and disability in fibromyalgia.

OBJECTIVE: Fibromyalgia, a potentially debilitating chronic pain syndrome, is a chronic disease. We aimed to compare the hand function of fibromyalgia (FM) patients and healthy individuals and to demonstrate the relationship between hand disability and FM. PATIENTS AND METHODS: The study was consisted of 40 female patients with FM and 30 healthy controls. All participants were evaluated for pain threshold measurements, handgrip strength, and pinch strength. Functional states, hand disability, and hand skills and coordination were evaluated using the Fibromyalgia Impact Questionnaire (FIQ) form, the Disability of Arm-Shoulder-Hand (DASH) questionnaire and the Purdue Pegboard Test, respectively. RESULTS: Handgrip strength values, DASH score, lateral pinch strength test, Pegboard placement time, and Pegboard collection time of the patient group were significantly lower than those of the control group (all p < 0.05). A negative correlation was found between FIQ score and handgrip strength, two-point pinch strength test, three-point pinch strength test, and lateral pinch strength test in patients with moderate FM (all p < 0.05). Furthermore, a correlation was observed between DASH score and handgrip strength, lateral pinch strength test, Purdue Pegboard placement time, and Purdue Pegboard collection time in patients with moderate FM (all p < 0.05). CONCLUSIONS: Our results show that hand function was decreased in patients with FM compared to healthy controls and decreasing hand function was influenced by FIQ score. As a result, the evaluation of hand function should be taken into consideration in the management of FM.

CLINICAL EFFECT OF A MUTATION (p.Glu322Asp, c.966 G>T) IN PANK2 GENE IN A FAMILY WITH ATYPICAL PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION.

Pantothenate-kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive disorder caused by mutations in the pantothenate kinase 2 (PANK2) gene. Many different mutations in the PANK2 gene have been detected in association with PKAN. A 20 year old female patient who had been suffering from progressive gait disorder for 1 year was found to have the 'eye-of-the-tiger sign' from the brain magnetic resonance imaging (MRI). The same brain imaging findings were shown in the father and brother of the patient, whose parents arranged a consanguineous marriage. We found c.966 G>T (p.Glu322Asp) mutation in the PANK2 gene mutation analysis in the individuals from the brain imaging findings. Although individuals in this family who had a homozygous mutation in PANK2 gene analyses had the 'eye-of-the-tiger' sign and atypical disease, they were noted to have differing clinical findings.

The prevalence and risk factors of low back pain in the eastern Black Sea region of Turkey.

BACKGROUND: Low back pain (LBP) is a public health problem commonly seen in all societies. OBJECTIVE: The aim of this study was to determine the prevalence and specific risk factors of low back pain (LBP) in the central and outlying districts of the province of Trabzon, a Black Sea region of Turkey. METHOD: A random sample of 7897 (4006 men and 3789 women) adults was collected by using sampling techniques of stratification. In this study questionnaires were completed at face-to-face interviews with participants selected on the basis of place of residence, gender and age group. The used variables in this study were: use of cigarettes, status of marriage, level of education, and presence of chronic disease, the prevalence of lifetime LBP and of LBP in the preceding year. Chronic LBP was determined as being present for more than 6 weeks. RESULTS: The lifetime prevalence of LBP in the general population was determined at 62.1%. Prevalence in the preceding year was 46.1%, and that of LBP lasting more than six week was 18.1%. Lifetime prevalence of LBP, prevalence of LBP in the preceding year and prevalence of pain lasting more than six week were all statistically significantly higher in women (p< 0.001). Use of cigarettes, female gender, marriage, a low level of education and presence of chronic disease were identified as independent risk factors for LBP (p< 0.001). CONCLUSION: Lower back pain is a common public health problem. Recommendations were made for local health services to prevent LBP, including health education through combating chronic diseases, reducing cigarette consumption, improvement of working environments and life styles.

Ultrasonographic evaluation of femoral cartilage thickness in patients with ankylosing spondylitis.

OBJECTIVE: To evaluate femoral cartilage thickness in patients with ankylosing spondylitis (AS) by using ultrasonography. METHODS: Eighty-four patients (55 M, 29 F) with a diagnosis of AS and 84 age-, gender- and body mass index-matched healthy subjects were enrolled. Demographic and clinical characteristics of the patients including disease duration, morning stiffness and medications were recorded. The femoral cartilage thicknesses of both knees were measured with a 7-12 MHz linear probe while subjects' knees were held in maximum flexion. Three mid-point measurements were taken from both knees (lateral femoral condyle (LFC), intercondylar area (ICA) and medial femoral condyle (MFC)). RESULTS: Concerning both ICA (p < 0.001) and left MFC (p = 0.013), cartilage measurements were significantly thicker in AS patients than control subjects. In a subgroup analysis (anti-tumour necrosis factor (TNF) users vs anti-TNF naive), cartilage thickness measurements - bilateral ICA (p = 0.000) and left MFC (p = 0.017) - were found to be greater in AS patients under anti-TNF treatment (n = 65) when compared with those of healthy controls. CONCLUSION: We imply that AS patients seem to have thicker femoral cartilage, which could be related to anti-TNF treatment.

Glutathione s-transferase m1 and t1 gene polymorphisms are not associated with increased risk of gestational diabetes mellitus development.

AIM: The aim of this study was to investigate whether the glutathione S-transferase M1 (GSTM1) and T1 (GSTT1) gene polymorphisms contributed to development of gestational diabetes mellitus (GDM). SUBJECTS AND METHODS: Fifty women with diagnosis of GDM and 50 control individuals without GDM or altered glucose intolerance during their pregnancy were enrolled in the study. Multiplex polimerase chain reaction-restriction fragment length polymorphism method was applied to determine the GSTM1 and GSTT1 gene polymorphisms. Genotypes were determined according to bands detected with the agarose gel electrophoresis. RESULTS: The difference in the frequencies of GSTM1 null genotypes between GDM and control groups was not statistically significant (60% and 54%, respectively). There was no statistically significant difference between GDM and control groups with respect to GSTT1 null genotype rates (22% and 20%, respectively).There was no statistically significant difference between GDM and control groups with respect to GSTT1 null genotype rates (22% and 20%, respectively). CONCLUSION: This study shows no association between GST gene polymorphisms and GDM.

Subtelomeric fish findings in Turkish patients with idiopathic mental retardation.

Subtelomeric rearrangements are the major cause of idiopathic mental retardation (IMR). This study included 67 Turkish children with IMR. Subtelomere fluorescence in situ hybridization (FISH) was used to determine the subtelomeric rearrangements. Submicroscopic subtelomeric deletions were identified in 5 patients, with a detection rate of 7.4%. The deletions involved 5 different subtelomeric regions (1p, 2q, 8p, 9p and 10p). The detection of subtelomeric rearrangements is of great importance in offering genetic counseling and prenatal diagnosis.

Cathecol-O-methyl transferase Val158Met genotype is not a risk factor for conversion disorder.

Alterations in catechol-O-methyltransferase (COMT) activity are involved in various types of neurological disorders. We examined a possible association between the COMT Val158Met polymorphism and conversion disorder in a study of 48 patients with conversion disorder and 48 control patients. In the conversion disorder group, 31 patients were Val/Met heterozygotes, 15 patients were Val/Val homozygotes and 2 patients were Met/Met homozygotes. In the control group, 32 patients were Val/Met heterozygotes and 16 patients were Val/Val homozygotes. There was no significant difference between the groups. We conclude that the COMT Val158Met genotype is quite common in Turkey and that it is not a risk factor for conversion disorder in the Turkish population.

Polymorphisms of glutathione-s-transferase M1, T1, and P1 genes in endometrial carcinoma.

OBJECTIVE: To investigate the polymorphism rates and possible roles of glutathione-s-transferase M1, T1, and P1 gene polymorphisms in the predisposition to endometrial cancer in Caucasian women. MATERIALS AND METHODS: Serum samples and medical records were collected from 53 Caucasian women with newly diagnosed endometrial cancer and 67 women of the same race without any known history of cancer. Multiplex polymerase chain reaction (PCR) analysis was used to assess glutathione-s-transferase M1 (GSTM1) and T1 gene polymorphisms. Polymerase chain reaction - restriction fragment length polymorphism (PCR-RFLP) method was used in salvage of GSTP1 gene polymorphism. RESULTS: Frequencies of GSTM1 and GSTT1 null genotypes were not significantly different between the controls and patients with endometrial cancer (56.7% vs 52.8%, p = 0.671; 32.8% vs 26.4%, p = 0.574, respectively). The authors were not able to demonstrate any association between neither GSTP1 genotypes nor allele frequencies and endometrial carcinoma in the population studied (p = 0.310, p = 0.318, respectively). Moreover, no significant association could be demonstrated with GSTM1 and GSTT1 polymorphisms and clinical stages of endometrial cancer. Nevertheless, there was a significant difference between the frequencies of GSTP1 AA and GG genotypes in relation to Stage I disease when compared with advanced stages of endometrial carcinoma (p = 0.03). In addition, no association was found between polymorphisms of GST suspergene family and non-endometrioid type endometrial carcinomas. CONCLUSION: These results suggest that GSTT1, GSTM1, and GSTP1 polymorphisms are not associated with endometrial cancer in the Caucasian population.

Another small supernumerary marker chromosome derived from chromosome 9 in a Klinefelter patient / Otro cromosoma marcador supernumerario pequeño derivado del cromosoma 9 en un paciente con el síndrome de Klinefelter

Marker chromosomes are very rare in Klinefelter patients and phenotypic findings are related to the affected chromosomal region. The phenotypic effects of small supernumerary marker chromosomes (sSMC) range from multiple malformations/mental retardation to no effect (ie a normal phenotype). This wide spectrum of phenotypes is due to the origin, structure and gene content of the marker chromosome. The first Klinefelter case with sSMC 9 was published by Liehr et al in 2005. The present case was referred for chromosomal analysis because of dysmorphic features, speech delay and mild mental retardation. Conventional cytogenetic analysis revealed the 47 XXY karyotype in 17 metaphases and the 48 XXY + marker karyotype in eight metaphases. Fluorescence in situ hybridization (FISH) analysis to identify the marker chromosome was performed using the LSI p16 (9p21) Spectrum Orange/CEP 9 SpectrumGreen Probe (Vysis CDKN2A/CEP 9 FISH Probe) and partial trisomy 9 mosaicism was confirmed in this patient. To our knowledge, this is the second case of Klinefelter syndrome with a small supernumerary marker chromosome derived from chromosome 9.

Los cromosomas marcadores son muy raros en los pacientes de Klinefelter, y los hallazgos fenotípicos se relacionan con la región cromosomática afectada. Los efectos fenotípicos de los cromosomas marcadores supernumerarios pequeños (sSMC) van desde el retraso mental y las malformaciones múltiples hasta la ausencia total de efectos (es decir, un fenotipo normal). Este amplio espectro de fenotipos se debe al origen, estructura y contenido del gen del cromosoma marcador. El primer caso de síntoma Klinefelter con sSMC 9 fue publicado por Liehr et al en 2005. El caso presente fue remitido para análisis cromosomático debido a rasgos dismórficos, retraso del habla, y retardo mental ligero. El análisis citogenético convencional reveló el cariotipo 47 XXY en 17 metafases y el cariotipo marcador 48 XXY+ en ocho metafases. El análisis mediante hibridación fluorescente in situ (FISH) para identificar el cromosoma marcador se realizó usando la sonda LSI p16 (9p21) Spectrum Orange/CEP 9 SpectrumGreen Probe (Vysis CDKN2A/CEP 9 FISH Probe). Un mosaicismo de trisomía 9 parcial fue confirmado en este paciente. Hasta donde sabemos, éste es el segundo caso de síndrome de Klinefelter con un cromosoma marcador supernumerario pequeño derivado del cromosoma 9.

The variant translocation of ABL1 gene t(2;9)(q21;q34) in a childhood T-cell acute lymphoblastic leukemia.

We present the case of the childhood ALL that was identified by the translocation of the ABL1 gene to the q21 band of chromosome 2 without t(9;22)(q34;q11) translocation. The observation of a poor clinical course of the case may contribute to explanation of the action of t(9;22)(q34;q11) translocation, of which poor prognostic action is known on ALL's, in terms of ABL1 gene, independent of the BCR gene. On the other hand, the prognostic significance of this variant ABL1 translocation detection, which is very rarely observed, will cast a light on future cases (Tab. 1, Fig. 1, Ref. 11).

Polymorphisms in angiotensin-converting enzyme and glutathione s-transferase genes in Turkish population and risk for preeclampsia.

AIMS: This study was conducted to investigate whether insertion/deletion (I/D) polymorphism of angiotensin-converting enzyme (ACE) gene and polymorphisms in glutathione S-transferase (GST) M1 and T1 genes are associated with increased risk for preeclampsia. MATERIALS AND METHODS: Sixty-three patients with hypertensive disorder of pregnancy and 85 controls were evaluated in a prospective case-control study. All subjects were genotyped by polymerase chain reaction (PCR) followed by agarose gel electrophoresis. RESULTS: Allele frequencies of ACE gene I/D polymorphism were found significantly different between preeclampsia and the control groups (p = 0.001). Differences in genotype frequencies of ACE gene I/D polymorphism between the two groups were statistically significant (p = 0.004). Individuals homozygous for D allele were more likely to develop preeclampsia (OR = 2.29; 95% CI, 1.39-3.79), whereas heterozygous individuals were not at increased risk (OR = 0.92; 95% CI, 0.56-1.49), compared to individuals homozygous for I allele. The differences in frequencies of functional and null alleles of GSTM1 and GSTT1 genes between the two groups were not significant (p = 0.46 and p = 0.44, respectively). CONCLUSION: ACE gene DD genotype was found to be associated with increased risk of preeclampsia development, whereas the authors did not find any significant relationship with polymorphisms of the GSTM1 and GSTT1 genes and preeclampsia.

Another small supernumerary marker chromosome derived from chromosome 9 in a Klinefelter patient.

Marker chromosomes are very rare in Klinefelter patients and phenotypic findings are related to the affected chromosomal region. The phenotypic effects of small supernumerary marker chromosomes (sSMC) range from multiple malformations/mental retardation to no effect (ie a normal phenotype). This wide spectrum of phenotypes is due to the origin, structure and gene content of the marker chromosome. The first Klinefelter case with sSMC 9 was published by Liehr et al in 2005. The present case was referred for chromosomal analysis because of dysmorphic features, speech delay and mild mental retardation. Conventional cytogenetic analysis revealed the 47XXY karyotype in 17 metaphases and the 48 XXY + marker karyotype in eight metaphases. Fluorescence in situ hybridization (FISH) analysis to identify the marker chromosome was performed using the LSI p16 (9p21) Spectrum Orange/CEP 9 SpectrumGreen Probe (Vysis CDKN2A/CEP 9 FISH Probe) and partial trisomy 9 mosaicism was confirmed in this patient. To our knowledge, this is the second case of Klinefelter syndrome with a small supernumerary marker chromosome derived from chromosome 9.

Sexual function in male patients with ankylosing spondylitis.

Sexuality is an important part of healthy life. Patients with ankylosing spondylitis (AS) may be vulnerable to sexual problems because of disease activity and comorbid emotional problems. However, sexuality is a scarcely studied subject in AS. The aim of this study is to compare patients with AS with healthy control. A total of 43 male patients, who referred to the Department of Physical Medicine and Rehabilitation Clinics of the Karadeniz Technical University Farabi Hospital between May 2010 and July 2010, and were diagnosed as AS according to modified New York criteria, were included in the study. Control group consisted of healthy 43 age- and sex-matched male individuals with normal inflammatory levels. The AS patients were compared in means of sociodemographic variables and sexual function with Glombok-Rust Sexual Satisfaction Scale (GRSSS) and clinical interview. Beck Anxiety Inventory (BAI) and Beck Depression Inventory (BDI) were used to determine anxiety and depression levels, respectively. The disease activity and functional conditions were evaluated with the Bath Ankylosing Spondylitis Functional Index (BASFI), the Bath Ankylosing Spondylitis Metrology Index (BASMI) and the Bath Ankylosing Spondylitis Disease Activity Index (BASDI). A total of 43 patients with AS and 43 healthy heterosexual male were included in the study. The total GRSSS score was significantly higher in patients with AS, whereas they also had significantly higher sexual complaint than healthy control. The diagnosis of sexual dysfunction according to DSM-IV was significantly higher in the patients with AS as well as depression and anxiety. In study group, GRSSS total score was modestly correlated with disease activity. The psychological status had close relation with sexual functions in AS. Overall assessment is required for complete evaluation in patients with AS.

Toll-like receptor 9 polymorphism in patients with erythema multiforme, Stevens Johnson syndrome and Stevens Johnson syndrome/toxic epidermal necrolysis overlap syndrome.

BACKGROUND: "Toll like receptor" (TLR) 9 functions in stepping in of native immune system against different viral and bacterial pathogens and induction of adaptive immune response effectively. TLR 9 gene polymorphism makes host predisposed to microbial pathogens by affecting thefunctional capabilities of the receptor. OBJECTIVE: We aimed to determine if TLR 9 gene polymorphism makes a predisposition to "erythema multiforme" (EM), "Stevens Johnson syndrome" (SJS) and "Stevens Johnson syndrome/toxic epidermal necrolysis overlap syndrome" (SJS/TEN). METHODS: Forty-two patients clinically and/or histopathologically diagnosed as EM, SJS, and SJS/TEN overlap syndrome and 50 healthy control subjects were enrolled in our study. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was applied for TLR 9 gene 1237 thymine/cytosine (T/C) polymorphism. Genotypes were determined according to bands occurring on agarose gel electrophoresis. RESULTS: In patients group, the frequencies of TT and TC genotypes were 73.8% and 26.2% while CC genotype wasn't detected. In control group, the frequencies of TT, TC and CC genotypes were 74%, 24%, and 2%. There wasn't a statistically significant difference for TT, TC and CC genotypes between patients and controls. The frequencies of T and C alleles were 84.5% and 15.5% in patients and 86% and 14% in controls, respectively. CONCLUSION: Our results showed that there isn't any association between TLR gene polymorphism and EM, SJS, SJS/TEN overlap syndrome (Tab. 1, Fig. 1, Ref. 30).

Investigation of ABCB1 gene polymorphism with colchicine response in Behçet's disease.

Colchicine is commonly used in the treatment of Behçet's disease. However, some patients are unresponsive to colchicine treatment. Adenosine triphosphate-binding cassette subfamily B member 1 (ABCB1) transports colchicine out of cells. We investigated a possible association of C3435T polymorphism of the ABCB1 (MDR1) gene with colchicine response in patients with Behçet's disease. We randomly selected 97 patients with Behçet's disease, examined ABCB1 (MDR1) gene C3435T polymorphisms, and evaluated patient responses to colchicine. Forty-three patients were colchicine responsive, while the remaining 54 patients were unresponsive. No significant difference was found between genotypic and allelic frequencies of the ABCB1 C3435T polymorphisms in patients with Behçet's disease and healthy volunteers. Also, there was no significant difference among responsive and nonresponsive patients. We concluded that ABCB1 C3435T polymorphism is not associated with a colchicine response in patients with Behçet's disease.

An evaluation of the tuberculin skin test for anti TNF alpha prophylaxis in patients with ankylosing spondylitis and rheumatoid arthritis.

AIM: The tuberculin skin test (TST) has recently been proposed as a screening procedure for latent TB prior to anti-tumor necrosis factor (TNF) alpha therapy. Our aim was to evaluate TST levels in patients receiving anti TNF alpha due to ankylosing spondylitis (AS) and rheumatoid arthritis (RA). MATERIALS AND METHODS: 73 AS patients (52 male, 21 female) and 33 RA patients (11 male, 22 female) were enrolled in the study. Patients' clinical and demographic characteristics were recorded. Average age +/- standard deviation was 38.8 +/- 7.2 years for AS and 40.7 +/- 13 for RA. Median number of immunosuppressive agents used was 1 (min-max) (0-2) in AS and 2 (2-3) in RA. To determine the activity of the disease, BASDAI (Bath Ankylosing Spondylitis Disease Activity Index) was measured in AS patients, and DAS 28 (Disease Activity Index) was used in RA patients. TST was performed using the Mantoux method in all patients. RESULTS: Mean BASDAI was 5.1 +/- 0.8 in AS, and DAS 28 score in RA was 5.7 +/- 0.5. Both, AS and RA patients had active disease. TST values were higher in AS than in RA patients. TST values were 11.5 +/- 6.5 mm in AS patients, compared to 7.0 +/- 6.4 mm in RA patients. A positive correlation between disease duration and TST was determined in AS patients. There was also a weak correlation in RA patients between immunosuppressive use and TST (r = 0.37, p = 0.032). No correlation was determined with disease activation in AS or RA patients. CONCLUSION: This is the first study to evaluate the correlation between the use of multiple immunosuppressive agents and TST. We determined that TST is correlated with disease duration in AS and with the use of multiple immunosuppressive agents in RA (Tab. 3, Ref. 21).

Lack of association of genetic polymorphisms of angiotensin-converting enzyme gene I/D and glutathione-S-transferase enzyme T1 and M1 with retinopathy of prematures.

One of the most frequently observed causes of blindness in infancy is the pathogenesis known as retinopathy of prematurity (ROP). Angiotensin-converting enzyme (ACE) is a vital enzyme in the renin-angiotensin-aldosterone system; it is involved in the development of cardiovascular system diseases linked to I/D polymorphism of the ACE gene. Glutathione-S-transferase enzyme (GST) is one of the most important regulating components of the antioxidant system; there are indications that certain polymorphisms of GST genes (GSTT1, GSTM1), especially the null genotypes, increase the tendency for oxidative stress diseases. We investigated a possible correlation between ACE gene I/D and GSTT1 and GSTM1 gene polymorphisms in 56 prematures suffering from ROP and a control group composed of 48 prematures without ROP in a hospital in Turkey. PCR was used to detect the ACE I/D, GSTT1 and GSTM1 gene polymorphisms. Genotype was determined based on bands formed on agarose gel electrophoresis. We found no significant differences in genotype frequency of the ACE I/D, GSTT1 and GSTM1 genes between normal subjects and patients with ROP. Our results do not support an association of ACE I/D, GSTT1 and GSTM1 gene polymorphisms with risk for ROP.

Age-related diseases; degenerative aortic valve disease and osteoarthritis.

OBJECTIVE: To examine the relationship between degenerative aortic valve disease and osteoarthritis Background: Degenerative aortic valve disease (DAVD) and osteoarthritis (OA) are age-related degenerative diseases whose pathogenesis involves mechanical stress and local inflammation. METHODS: Forty-four patients with DAVD (Group 1) and 21 controls (Group 2) were included in this study, which was intended to investigate the similarity between the two conditions. The two groups were similar in terms of age, sex, body mass index, a history of hypertension, cholesterol levels, diabetes mellitus and cigarette consumption. RESULTS: The average age + standard deviation of the DAVD patients were 71.3 +/- 7.5, compared to 67.5 +/- 10.6 in the control group. In radiological OA analysis, the Lane scale was employed in the lumbar region and the Kellgren-Lawrence scale in the knee joint. Comparison of Groups 1 and 2 revealed no difference in radiological OA in the lumbar region and knee joint. CONCLUSION: Our study has shown that there is no relationship between these diseases that increased with age. However, extensive studies examining pathogenic mechanisms are needed (Tab. 2, Ref. 11).