DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants.

Pitt-Hopkins syndrome (PTHS) is a neurodevelopmental disorder caused by pathogenic variants in TCF4, leading to intellectual disability, specific morphological features, and autonomic nervous system dysfunction. Epigenetic dysregulation has been implicated in PTHS, prompting the investigation of a DNA methylation (DNAm) "episignature" specific to PTHS for diagnostic purposes and variant reclassification and functional insights into the molecular pathophysiology of this disorder. A cohort of 67 individuals with genetically confirmed PTHS and three individuals with intellectual disability and a variant of uncertain significance (VUS) in TCF4 were studied. The DNAm episignature was developed with an Infinium Methylation EPIC BeadChip array analysis using peripheral blood cells. Support vector machine (SVM) modeling and clustering methods were employed to generate a DNAm classifier for PTHS. Validation was extended to an additional cohort of 11 individuals with PTHS. The episignature was assessed in relation to other neurodevelopmental disorders and its specificity was examined. A specific DNAm episignature for PTHS was established. The classifier exhibited high sensitivity for TCF4 haploinsufficiency and missense variants in the basic-helix-loop-helix domain. Notably, seven individuals with TCF4 variants exhibited negative episignatures, suggesting complexities related to mosaicism, genetic factors, and environmental influences. The episignature displayed degrees of overlap with other related disorders and biological pathways. This study defines a DNAm episignature for TCF4-related PTHS, enabling improved diagnostic accuracy and VUS reclassification. The finding that some cases scored negatively underscores the potential for multiple or nested episignatures and emphasizes the need for continued investigation to enhance specificity and coverage across PTHS-related variants.

Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients.

BACKGROUND: Vascular Ehlers-Danlos syndrome (vEDS) is a rare connective tissue disorder with a high risk for arterial, bowel, and uterine rupture, caused by heterozygous pathogenic variants in COL3A1. The aim of this cohort study is to provide further insights into the natural history of vEDS and describe genotype-phenotype correlations in a Dutch multicenter cohort to optimize patient care and increase awareness of the disease. METHODS: Individuals with vEDS throughout the Netherlands were included. The phenotype was charted by retrospective analysis of molecular and clinical data, combined with a one-time physical examination. RESULTS: A total of 142 individuals (50% female) participated the study, including 46 index patients (32%). The overall median age at genetic diagnosis was 41.0 years. More than half of the index patients (54.3%) and relatives (53.1%) had a physical appearance highly suggestive of vEDS. In these individuals, major events were not more frequent (P=0.90), but occurred at a younger age (P=0.01). A major event occurred more often and at a younger age in men compared with women (P<0.001 and P=0.004, respectively). Aortic aneurysms (P=0.003) and pneumothoraces (P=0.029) were more frequent in men. Aortic dissection was more frequent in individuals with a COL3A1 variant in the first quarter of the collagen helical domain (P=0.03). CONCLUSIONS: Male sex, type and location of the COL3A1 variant, and physical appearance highly suggestive of vEDS are risk factors for the occurrence and/or early age of onset of major events. This national multicenter cohort study of Dutch individuals with vEDS provides a valuable basis for improving guidelines for the diagnosing, follow-up, and treatment of individuals with vEDS.

Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals.

PURPOSE: Coffin-Siris and Nicolaides-Baraitser syndromes are recognizable neurodevelopmental disorders caused by germline variants in BAF complex subunits. The SMARCC2 BAFopathy was recently reported. Herein, we present clinical and molecular data on a large cohort. METHODS: Clinical symptoms for 41 novel and 24 previously published affected individuals were analyzed using the Human Phenotype Ontology. For genotype-phenotype correlations, molecular data were standardized and grouped into non-truncating and likely gene-disrupting (LGD) variants. Missense variant protein expression and BAF-subunit interactions were examined using 3D protein modeling, co-immunoprecipitation, and proximity-ligation assays. RESULTS: Neurodevelopmental delay with intellectual disability, muscular hypotonia, and behavioral disorders were the major manifestations. Clinical hallmarks of BAFopathies were rare. Clinical presentation differed significantly, with LGD variants being predominantly inherited and associated with mildly reduced or normal cognitive development, whereas non-truncating variants were mostly de novo and presented with severe developmental delay. These distinct manifestations and non-truncating variant clustering in functional domains suggest different pathomechanisms. In vitro testing showed decreased protein expression for N-terminal missense variants similar to LGD. CONCLUSION: This study improved SMARCC2 variant classification and identified discernible SMARCC2-associated phenotypes for LGD and non-truncating variants, which were distinct from other BAFopathies. The pathomechanism of most non-truncating variants has yet to be investigated.

Key recommendations for high-quality female oncofertility care based on international clinical practice guidelines.

RESEARCH QUESTION: Which guideline-based key recommendations can be selected for high-quality female oncofertility care? DESIGN: The Delphi method was used to select a set of key recommendations for female oncofertility care. First, recommendations from (inter)national clinical practice guidelines were selected in four domains: risk communication, referral, counselling and decision-making. Thereafter, they were scored, per domain, on their importance for high-quality oncofertility care by a multidisciplinary, oncofertility expert panel, consisting of patients, referrers and counsellors, in two Delphi rounds. Finally, the selected key recommendations were presented for approval in a third round. Differences in perspectives between subgroups of the expert panel were analysed. RESULTS: A panel of 86 experts was asked to select key recommendations for high-quality oncofertility care. Eleven key recommendations were selected. Key recommendations in the domains risk communication and referral focused on information provision and offering referral to a reproductive specialist to female cancer patients. With the counselling domain, key recommendations focused on all aspects of counselling, including different methods, safety, pros and cons. In the decision-making domain, key recommendations focused on shared decision-making and supporting the decision with written information. The final set of key recommendations was approved by 91% of the experts. Differences in perspectives were found between subgroups. Patients found recommendations on decision-making and information provision more important. CONCLUSION: A set of 11 key recommendations for high-quality female oncofertility care was selected by a multidisciplinary expert panel. The involvement of the perspectives of patients, referrers and counsellors led to this valid, acceptable and credible set of key recommendations.

Clinical practice guidelines for fertility preservation in young women undergoing gonadotoxic treatment: an overview and critical appraisal of methodological quality and content.

RESEARCH QUESTION: What is the methodological quality and content of internationally available clinical practice guidelines (CPGs) on fertility preservation (FP) care in adult women? DESIGN: Internationally available CPGs on FP care in adult women were identified after conducting an extensive literature search and consulting (inter)national key experts. The methodological quality of the CPGs was appraised by an (inter)national panel of experts using the Appraisal of Guidelines for Research and Evaluation (AGREE) II instrument. The content of the best CPGs, scoring ≥60% for the domain 'Rigour of development' of the AGREE II instrument, was extracted and categorized according to their topic. RESULTS: Thirty of the 1808 documents found were included. After consulting (inter)national key experts, 30 CPGs were included, six of which scored ≥60% for their 'Rigour of development'. The number of FP-related topics discussed by these six CPGs ranged from 4 to 12. The number of recommendations provided by the CPGs on these topics varied. The number of topics to which ≥5 recommendations were dedicated ranged from 0 to 4 between CPGs. CONCLUSION: CPGs on the subject of FP care are available, but there is room for improvement in quality and content. Although written for use in daily practice, the CPGs can also be used to develop quality indicators to monitor the quality of current FP care or to evaluate future improvement initiatives.

The clinical effects of somatotype difference on isokinetic knee muscle strength and dynamic balance scores.

OBJECTIVES: The aim of this study was to present the somatotype features of young individuals without any symptoms and to identify whether isokinetic knee muscle strength and dynamic balance scores are affected by somatotype difference. PATIENTS AND METHODS: A total of 146 participants (88 males, 58 females; mean age 22.5±1.9 years; range 19 to 28 years) who had no symptoms were included in this study. Somatotypes of the participants were calculated using the Heath-Carter formula, and anthropometric measurements were taken from each participant. Knee flexion and extension muscle strengths at angular speeds of 90°/sec, 120°/sec and 150°/ sec were measured from the dominant and non-dominant limbs of the participants. Total balance, anterior/posterior balance, and medial/ lateral measurements were made to evaluate dynamic balance performances. RESULTS: Six different somatotypes were found. Endomorphic mesomorph was the most common somatotype in 56 participants. There was no significant somatotype difference in men and women for dominant and non-dominant knee extension and flexion peak strength values at angular speeds of 90°/sec, 120°/sec and 150°/sec (p>0.05). No significant difference was found between the balance scores of men and women who had different somatotypes (p>0.05). CONCLUSION: Anatomic structure of the body, which is suitable for the sports branch, has an increasing effect on performance.

Ultrasonography-Guided Injection for Quadriceps Fat Pad Edema: Preliminary Report of a Six-Month Clinical and Radiological Follow-Up.

PURPOSE: To investigate efficacy and safety of ultrasonography-guided local corticosteroid and anesthetic injection followed by physical therapy for the management of quadriceps fat pad (QFP) edema. MATERIALS AND METHODS: We prospectively evaluated 1671 knee MRI examinations in 1542 patients for QFP edema with mass effect, which was present in 109 (6.5%) knees. Participants were assigned into injection and therapy groups (both received the same physical therapy program). Injection group was first treated with ultrasonography-guided QFP injection of 1 mL corticosteroid and 1 mL local anesthetic agent. Patients were evaluated at baseline and 1-, 2-, 6-month follow-up for pain using static and dynamic visual analogue scale (VAS), suprapatellar tenderness, and QFP edema on MRI. RESULTS: Final sample size consisted of 19 knees (injection group, 10; therapy group, 9) in 17 patients. An overall improvement was detected in both groups between baseline and final assessments. The injection group fared better than the therapy group in static VAS scores (3.33 ± 1.70 versus 0.56 ± 1.33), while there was no such difference for dynamic VAS. Incidence of suprapatellar tenderness decreased in both groups, statistically significantly in the injection group (from 100% to 0%). Pain reduction was greater in the injection group at the first month (88.9% - 90% good response versus 50% - 66.7% good response, static-dynamic VAS scoring, respectively), whereas there was no such superiority at the sixth month. No severe adverse events were identified. CONCLUSION: Ultrasonography-guided local injection followed by physical therapy is safe in the management of QFP edema; however, it is not superior to stand-alone physical therapy program in the long term.

Relationship between vitamin D and lung function, physical performance and balance on patients with stage I-III chronic obstructive pulmonary disease.

OBJECTIVES: vitamin D is important for muscle function and it affects different aspects of muscle metabolism. This study aim to determine whether serum 25(OH) D levels are related to lung functions, physical performance and balance in patients with chronic obstructive pulmonary disease (COPD). METHODS: in 90 patients with COPD and 57 healthy controls lung function tests, physical performance tests (time up and go, gait velocity test, sit-to-stand test, isometric strength, isokinetic strength), static (functional reach test) and dynamic (time up and go) balance tests and the association of 25(OH)D levels with lung functions, physical performance and balance were evaluated. RESULTS: the COPD patients had significantly more deficit in physical function and balance parameters, and in dynamic balance test (p<0.005). Isokinetic knee muscle strength (flexor and extensor) in COPD patients was significantly lower than in the controls (p<0.05); FEV1 (p=0.008), FVC (p=0.02), FEV1/FVC (p=0.04), TLC (p=0.01) were lower in COPD patients with vitamin D deficiency [25(OH) D less than 15 ng/mL] than in COPD patients without vitamin D deficiency. Hand grip test (p=0.000) and isokinetic knee muscle strength (flexor and extensor) (p<0.05) were also lower in COPD patients with vitamin D deficiency. Vitamin D deficiency was more pronounced in patients with stage III COPD (p<0.05). CONCLUSION: patients with COPD had worst physical functioning, poor balance and less muscle strength. Severe disturbed lung and peripheral muscle functions are more pronounced in COPD patients with vitamin D deficiency.

Relationship between vitamin D and lung function, physical performance and balance on patients with stage I-III chronic obstructive pulmonary disease / Relação entre vitamina D e função pulmonar, desempenho físico e equilíbrio em pacientes em estágio I a III de doença pulmonar obstrutiva crônica

Summary Objectives: vitamin D is important for muscle function and it affects different aspects of muscle metabolism. This study aim to determine whether serum 25(OH) D levels are related to lung functions, physical performance and balance in patients with chronic obstructive pulmonary disease (COPD). Methods: in 90 patients with COPD and 57 healthy controls lung function tests, physical performance tests (time up and go, gait velocity test, sit-to-stand test, isometric strength, isokinetic strength), static (functional reach test) and dynamic (time up and go) balance tests and the association of 25(OH)D levels with lung functions, physical performance and balance were evaluated. Results: the COPD patients had significantly more deficit in physical function and balance parameters, and in dynamic balance test (p<0.005). Isokinetic knee muscle strength (flexor and extensor) in COPD patients was significantly lower than in the controls (p<0.05); FEV1 (p=0.008), FVC (p=0.02), FEV1/FVC (p=0.04), TLC (p=0.01) were lower in COPD patients with vitamin D deficiency [25(OH) D less than 15ng/mL] than in COPD patients without vitamin D deficiency. Hand grip test (p=0.000) and isokinetic knee muscle strength (flexor and extensor) (p<0.05) were also lower in COPD patients with vitamin D deficiency. Vitamin D deficiency was more pronounced in patients with stage III COPD (p<0.05). Conclusion: patients with COPD had worst physical functioning, poor balance and less muscle strength. Severe disturbed lung and peripheral muscle functions are more pronounced in COPD patients with vitamin D deficiency. .

Resumo Objetivos: a vitamina D é importante para a função muscular e afeta diferentes aspectos do metabolismo muscular. O objetivo é determinar se os níveis séricos de 25 (OH) D estão relacionados com as funções pulmonares, desempenho físico e equilíbrio em pacientes com doença pulmonar obstrutiva crônica (DPOC). Métodos: em 90 pacientes com DPOC e 57 controles saudáveis, testes de espirometria, testes de desempenho (tempo de levantar e ir, teste de velocidade da marcha, teste sitto-stand, força isométrica, força isocinética) e testes de estática (teste de alcance funcional) e dinâmica (tempo de levantar e ir) de equilíbrio foram realizados; e foram avaliados a associação de níveis de 25 (OH) D com as funções pulmonares, desempenho físico e equilíbrio. Resultados: os pacientes com DPOC apresentaram significativamente mais déficit nos parâmetros de função e equilíbrio físico, e no teste de equilíbrio dinâmico (p<0,005). Força muscular isocinética do joelho (flexores e extensores) em pacientes com DPOC foi significativamente menor do que nos controles (p<0,05); VEF1 (p=0,008), CVF (p=0,02), VEF1/CVF (p=0,04), CPT (p=0,01) foram mais baixos em pacientes com DPOC e com deficiência de vitamina D [25 (OH) D menor do que 15 ng/ml] do que em pacientes com DPOC sem deficiência de vitamina D. Os resultados do teste da força de preensão manual (p=0,000) e força muscular isocinética do joelho (flexor e extensor) (p<0,05) também foram menores nos pacientes com DPOC e com deficiência de vitamina D. A deficiência de vitamina D foi mais pronunciada em pacientes em estágio III da DPOC (p<0,05). Conclusão: pacientes com DPOC tiveram pior desempenho físico, falta de equilíbrio e menor força muscular. Perturbações graves das funções pulmonares e musculares periféricas são mais pronunciadas em pacientes com DPOC e com deficiência de vitamina D. .

Isokinetic Evaluation of Knee Extensor/Flexor Muscle Strength in Behcet's Patients.

Background: Behçet's disease (BD) is an idiopathic, multisystemic, progressive disease. The purpose of this study is to compare the knee flexor and extensor isokinetic muscle strengths of Behcet's patients with that of healthy subjects. Methods: Twenty-five (13 male and 12 female) patients with BD and 25 (15 male and 10 female) healthy individuals were included in the study. Velocities of 90°/sec, 120°/sec, and 150°/sec were used for the isokinetic muscle strength testing. Patients with active inflammatory knee arthritis were excluded. Peak torque (Nm) and peak torque adjusted to body weight (%) were taken into consideration for comparison between study groups. Results: Compared to healthy controls, there was a statistically significant decrease in both the bilateral knee extensor and flexor muscle isokinetic peak torques(Nm) as well as the peak torques adjusted to body weight (%) at velocities of 90°/sec, 120°/sec and 150°/sec in patients with BD (p < 0.05). However, there was no significant difference in the agonist-antagonist ratio of the isokinetic peak torques of knee muscles between the two groups. Conclusion: In light of these findings, we have concluded that both knee flexor and extensor isokinetic muscle strengths are lower in BD. We therefore recommend careful monitoring of patients with BD in terms of muscle strength.

Femoral cartilage thickness measurements in healthy individuals: learning, practicing and publishing with TURK-MUSCULUS.

BACKGROUND AND OBJECTIVES: Measurement of the femoral cartilage thickness by using in-vivo musculoskeletal ultrasonography (MSUS) has been previously shown to be a valid and reliable method in previous studies; however, to our best notice, normative data has not been provided before in the healthy population.The aim of our study was to provide normative data regarding femoral cartilage thicknesses of healthy individuals with collaborative use of MSUS. METHODS: This is across-sectional study run at Physical and Rehabilitation Medicine Departments of 18 Secondary and Tertiary Centers in Turkey. 1544 healthy volunteers (aged between 25-40 years) were recruited within the collaboration of TURK-MUSCULUS (Turkish Musculoskeletal Ultrasonography Study Group). Subjects who had a body mass index value of less than 30 and who did not have signs and symptoms of any degenerative/inflammatory arthritis or other rheumatic diseases, history of knee trauma and previous knee surgery were enrolled. Ultrasonographic measurements were performed axially from the suprapatellar window by using linear probes while subjects' knees were in maximum flexion. Three (mid-point) measurements were taken from both knees (lateral condyle, intercondylar area, medial condyle). RESULTS: A total of 2876 knees (of 817 M, 621 F subjects) were taken into analysis after exclusion of inappropriate images. Mean cartilage thicknesses were significantly lower in females than males (all p< 0.001). Thickness values negatively correlated with age; negatively (females) and positively (males) correlated with smoking. Men who regularly exercised had thicker cartilage than who did not exercise (all p < 0.05). Increased age (in both sexes) and absence of exercise (males) were found to be risk factors for decreased cartilage thicknesses. CONCLUSION: Further data pertaining to other countries would be interesting to uncover whether ethnic differences also affect cartilage thickness. Collaborative use of MSUS seems to be promising in this regard.

Prevalence of atopic disorders in rheumatic diseases.

OBJECTIVES: The aim of this study was to assess the point prevalences of hay fever, asthma, and atopic dermatitis in OA, RA, and AS, and to compare with healthy controls. METHODS: A total of 935 patients and healthy controls were included. Demographic and clinical features were recorded, and a questionnaire assessing the existence of atopic disorders like asthma, hay fever, and atopic dermatitis in all groups was applied. "Either atopy" implied that an individual was either diagnosed with or had symptoms of one or more of these disorders, such as asthma, hay fever, or atopic dermatitis. RESULTS: When compared to the controls, only patients with AS had an increased risk for hay fever (OR 1.52, 95 % CI 1.00-2.41). Patients with RA had increased risks for hay fever, atopic dermatitis, and either atopy compared to the patients with OA (2.14, 95 % CI 1.18-3.89; 1.77, 95 % CI 1.00-3.18; and 3.45, 95 % CI 1.10-10.87, respectively). Steroid use had no effect on the prevalence of atopic disorders in patients with RA. CONCLUSIONS: Patients with OA, RA, and AS seem to have similar risks for asthma, atopic dermatitis, and either atopy to healthy controls. However, the prevalence of hay fever may increase in AS. Patients with RA have a higher risk of atopy than patients with OA.

Does vitamin D affect disease severity in patients with ankylosing spondylitis?

BACKGROUND: Vitamin D has been found to have a role in the function of the immune system. There have been a lot of studies investigating a relation between vitamin D and disease activity in ankylosing spondylitis (AS). However, there have not been any studies arranging AS in groups according to vitamin D levels and determining any differences among these patients in terms of disease activity, functional status, quality of life, and other clinical parameters. The aim of this study is to compare 25-hydroxy-vitamin D3 (25(OH)D3) levels in AS patients with those in normal healthy subjects and to determine the relationship between 25(OH)D3 levels and AS disease activity, functional status, and quality of life. METHODS: Ninety-nine consecutive patients and 42 healthy volunteers were included in this study. After a comparison between the patient group and the control group, the patient group was divided into normal, insufficient and deficient subgroups according to the plasma 25(OH)D3 levels for another comparison. RESULTS: The differences in the 25(OH)D3 level between the patient and the control groups were statistically insignificant. The number of AS patients whose 25(OH)D3 levels were classified as normal, insufficient, and deficient were 34, 29, and 36, respectively. Erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), and Bath AS Disease Activity Index (BASDAI) scores were higher in the low (including insufficient and deficient) 25(OH)D3 level subgroups (P < 0.05). The Bath AS Functional Index (BASFI) and AS Quality of Life (ASQoL) scores were significantly different between the normal and the deficient subgroups (P < 0.05). Pain, BASDAI, ESR, and CRP were inversely correlated to the 25(OH)D3 levels (P < 0.05). CONCLUSIONS: The plasma 25(OH)D3 levels may decrease in AS patients and this may negatively affect disease activity, functional status and quality of life.

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. METHODS: The Anatolian Group for the Assessment in Rheumatic Diseases (ANGARD) is a scientific group of Turkish academicians (physiatrists and rheumatologists) who are experts in the rehabilitation of patients with AS. A systematic literature search summarizing the current available physiotherapy and rehabilitation trials in AS were presented to the experts before a special 2-day meeting. Experts attending this meeting first defined a framework based on the main principles and thereafter collectively constructed six major recommendations on physiotherapy and rehabilitation in AS. After the meeting an email survey was conducted to rate the strength of the recommendations. RESULTS: Six key recommendations which cover the general principles of rehabilitation in AS in terms of early intervention, initial and follow-up assessments and monitoring, contraindications and precautions, key advice for physiotherapy methods and exercise were constructed. CONCLUSION: These recommendations were developed using evidence-based data and expert opinion. The implementation of these recommendations should encourage a more comprehensive and methodical approach in the rehabilitation of patients with AS. Regular lifelong exercise is the mainstay of rehabilitation and there is a considerable need for well-designed studies which will enlighten the role of physical therapy in the management of AS.

Psychological status is associated with health related quality of life in patients with rheumatoid arthritis.

OBJECTIVE: Rheumatoid arthritis (RA) is a chronic and disabling disease frequently effects physical and psychological well being. The aim of the present study was to determine the impact of psychological status on health related quality of life in patients with RA and also to assess which quality of life (QoL) instrument - disease specific and generic - is more prone to this effect. METHODS: A total of 421 patients with RA recruited from joint database of five tertiary centers. Depression and anxiety risks were assessed by the Hospital Anxiety and Depression Scale (HADS); and quality of life assessed by Rheumatoid Arthritis Quality of Life (RAQoL), Nottingham Health Profile (NHP) and The Short Form 36 (SF 36) questionnaire. RESULTS: Patients with higher risk for depression or anxiety had poorer quality of life compared to the patients without risk for depression or anxiety. Depression and anxiety scores significantly correlated with quality of life questionnaires. There was significant association between anxiety and depression with worsening in both disease specific and generic health related quality of life. However, RAQoL showed more association with depression and anxiety levels. CONCLUSION: Higher depression and anxiety risks showed increased deterioration in quality of life. Compared to generic QoL scales, RAQoL scale, a disease specific QoL instrument, is much more influenced by depression and anxiety.

Relationship between psychological status and disease activity and quality of life in ankylosing spondylitis.

Our aim in this study was to compare the depression and anxiety risk in patients with AS and healthy controls and also to determine the relationship between disease activity, quality of life and psychological well-being. Two hundred and forty-three patients with ankylosing spondylitis (AS) and 118 age-, sex- and education-matched healthy controls were enroled into the study. Bath Ankylosing Spondylitis Disease Activity Index (BASDAI), and Functional Index, and Metrology Index, Health Assessment Questionnaire for Spondyloarthropathies (HAQ-S), Hospital Anxiety and Depression Scale (HADS) including depression subscale (HADS-D) and anxiety subscale (HADS-A), Ankylosing Spondylitis Quality of Life (ASQoL) Scale, duration of morning stiffness, pain-visual analogue scale (VAS), patient and physician's global assessment of disease activity (100 mm VAS) were used to assess clinical and psychological status. Patients had similar HADS-D but higher HADS-A than healthy controls. Patients with high risk for depression and anxiety had higher scores in BASDAI, BASFI and also poorer scores in VAS pain, patient global assessment, physician global assessment, HAQ-S and ASQoL. There was a negative correlation of HADS-D and HADS-A scores with educational level of the patients. Higher scores in HADS-D and HADS-A indicated poorer functional outcome and quality of life. Multivariate logistic regression analysis revealed that the HADS-D (OR=6.84), HAQ-S (OR=1.76), VAS pain score (OR=1.03) and ESR (OR=1.02) were independent risk factors for higher anxiety scores whereas HADS-A (OR=1.36) and ASQoL (OR=1.24) were independent risk factors for higher depression scores. The psychological status had close interaction with disease activity and quality of life in patients with AS.

Discrimination ability of ASDAS estimating disease activity status in patients with ankylosing spondylitis.

OBJECTIVES: To investigate discrimination ability of the Assessment of Spondyloarthritis International Society (ASAS) endorsed disease activity score (ASDAS) versions evaluating low and high disease activity in an unselected group of patients with ankylosing spondylitis (AS). METHODS: Patients consecutively included into the joint database of five university hospitals were analyzed for low or high disease activity according to different criteria. Standardized mean differences (SMD) for two ASDAS versions were evaluated. RESULTS: The ASDAS versions (back pain, morning stiffness, patient global pain, pain/swelling of peripheral joints, plus either erythrocyte sedimentation rate or C-reactive protein) discriminated high and low disease activity in subgroups according to Bath Ankylosing Spondylitis Disease Activity Score (BASDAI) and ASAS remission/partial remission criteria. ASDAS versions were also not influenced by peripheral arthritis and correlated well with other outcome measurements and acute-phase reactants. The ASDAS versions performed better than patient-reported measures or acute-phase reactants discriminating high and low disease activity status. CONCLUSION: Both ASDAS versions, consisting of both patient-reported data and acute-phase reactants, performed well in discriminating low and high disease activity. Further longitudinal data may better estimate the usefulness of ASDAS to assess disease activity subgroups and treatment response.

Lower extremity isokinetic muscle strength in patients with Parkinson's disease.

We evaluated lower extremity isokinetic muscle strength to determine affected muscle groups and their dependence on movement velocity, and to establish the relationship between muscle strength and clinical severity, as well as muscle strength and falls, in Parkinson's disease (PD). Twenty-five patients diagnosed with PD and 24 healthy volunteers were enrolled in this study. Lower extremity muscle strength was measured using an isokinetic dynamometer. Each participant's clinical status was examined in accordance with the Unified Parkinson's Disease Rating Scale; fall history was also recorded. We observed a significant decrease in isokinetic muscle strength in the patient group, especially in both hip and knee flexors and extensors. Decreased muscle strength was independent of velocity, and correlated with clinical severity and falls. Movement velocity-independent lower extremity isokinetic muscle weakness has been observed in patients with PD, especially in the knee and hip joints. The evaluation of isokinetic muscle strength may be a useful tool for the assessment of clinical severity and falls in PD.

Postural stability in patients with ankylosing spondylitis.

PURPOSE: The aim of this study is to determine whether the postural changes in ankylosing spondylitis (AS) affected postural stability. METHOD: A total of 64 patients with a diagnosis of AS and 50 healthy volunteers were included in the study. The patients were divided into two groups according to a tragus-to-wall distance<15 cm (Group I, n=30) and >or=15 cm (Group II, n=34). The control group (Group III) consisted of 50 healthy volunteers. The postural stability was evaluated with the Biodex Stability System (BSS). The results of Antero-Posterior Stability Index (APSI), Medio-Lateral Stability Index (MLSI) and Overall Stability Index (OSI) were evaluated. RESULTS: There were statistically significant differences between the three groups for OSI, APSI and MLSI. MLSI results were significantly different among patient groups. When Group II and the control group were compared, there were significant differences for OSI, APSI, and MLSI. Comparing Group I with the control group revealed a more significant difference for OSI, APSI, and MLSI. CONCLUSIONS: We have found that postural stability decreases in patients with AS in both the early and the late stages of the disease, but especially in the latter ones. This result may be thought to be related with increased kyphosis which is seen during the course of the disease.

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.