Molecular analysis of SMN2, NAIP, and GTF2H2 gene deletions and relationships with clinical subtypes of spinal muscular atrophy.

SMA (spinal muscular atrophy) is an autosomal recessive neuromuscular disease that causes muscle atrophy and weakness. SMA is diagnosed by a homozygous deletion in exon 7 of the SMN1 gene. However, mutations in genes located in the SMA region, such as SMN2, NAIP, SERF1, and GTF2H2, may also contribute to the severity of the disease. Within our study's scope, 58 SMA patients who applied in 2018-2021 and 40 healthy controls were analyzed. The study retrospectively included the SMN1 and SMN2 copy numbers previously determined by the MLPA method. Then, NAIP gene analyses with the multiplex PCR method and GTF2H2 gene analyses with the RFLP method were performed. There was a significant correlation (p = 0.00001) between SMN2 copy numbers and SMA subtypes. Also, the NAIP gene (p = 0.01) and the GTF2H2 gene (p = 0.0049) revealed a significant difference between healthy and SMA subjects, whereas the SMA subtypes indicated no significant differences. We detected a significant correlation between clinical subtypes and HFMSE scores in 32 pediatric SMA patients compared (p = 0.01). While pediatric patients with GTF2H2 deletions demonstrated higher motor functions, and those with NAIP deletions demonstrated lower motor functions. In this study, we examined the relationship between NAIP and GTF2H2, called SMN region modifier genes, and the clinical severity of the disease in Turkish SMA patients. Despite its small scale, this research will benefit future investigations into the pathogenesis of SMA disease.

Validity and reliability characteristics of the Silhouettes Fatigue Scale in measuring multiple sclerosis-related fatigue in Turkish-speaking adults.

BACKGROUND: The purpose of this study is to investigate the reliability and validity as well as the clinical utility of the Silhouettes Fatigue Scale (SFS), a single-item visual scale to assess fatigue, in adult patients with multiple sclerosis (MS). METHODS: The study included 61 MS patients and 73 matched healthy controls. Demographic data and disease-related variables of all participants were recorded. Then, the SFS, Visual Analogue Scale (VAS)-fatigue, Fatigue Impact Scale (FIS), Fatigue Severity Scale (FSS), and Beck Depression Inventory (BDI) were applied. SFS, VAS-fatigue, and FSS were repeated after one week. Reliability was evaluated with the intra-class correlation coefficient (ICC) and Bland-Altman analysis. Validity was tested by comparison of healthy controls and patients with MS and correlations with other scales. Accuracy and clinical utility were also evaluated. RESULTS: SFS scores were 4.49 ± 3.11 (mean ± SD) in MS patients and 1.40 ± 1.44 in healthy controls (p < .001). The ICC for SFS was 0.946. The mean difference between test-retest measurements of SFS was -0.04651 (-95% CI, -0.4815-0.38848), and there was no systemic bias. SFS scores were not correlated with the expanded disability status scale, whereas they were poorly correlated with BDI. Correlations ranging from poor to good were calculated between the SFS and other fatigue-related scales. The optimum cut-off score of the SFS scale was four, with a sensitivity of 0.72 and a specificity of 0.84. CONCLUSION: This study demonstrated that the SFS is a reliable, responsive, and valid scale with acceptable sensitivity and specificity to assess and quantify clinically significant fatigue in MS patients. These findings as well as the brief and understandable nature of the SFS were encouraging that this scale has good clinical utility.

The relationship between muscle size, obesity, body fat ratio, pain and disability in individuals with and without nonspecific low back pain.

Patients with nonspecific low back pain (NSLBP) may face motor control problems and health disability barriers during various tasks. However, studies investigating the extent of these disadvantages, and possible associated factors are quite limited in patients with NSLBP. To compare motor control performances and physical assessment domains between patients with NSLBP and asymptomatic controls. Twenty-seven patients with NSBLP and 27 age- and sex-matched asymptomatic controls participated in this cross-sectional study. Ultrasonographic imaging was used to determine abdominal and multifidus muscles thicknesses and adipose tissue rate. Visual analog scale was used to assess LBP severity. Body mass index (BMI) and Oswestry Disability Index (ODI) scores of the participants were physical assessment domains of LBP. BMI values were greater in the NSLBP group compared to the asymptomatic participants. ANCOVA revealed a significant interaction effect regarding external abdominal oblique and multifidus lumborum muscles thickness, and abdominal adipose tissue (p = 0.015; p = 0.001; p = 0.006), respectively in terms of two groups. The thicknesses of these muscles were lesser in the NSLBP group compared with the control group. Similarly, abdominal adipose tissue was higher in the NSLBP group. The stepwise multiple regression analysis demonstrated that the Oswestry Disability Index and abdominal adipose tissue rate were significant and independent factors of the low back pain severity with 73.5% of the variance. The study results indicate that increased disability and fat infiltration are possible determinants influencing pain severity, although further research is required. Examining musculoskeletal properties of lumbar region could provide information about the limitation in patients with NSBLP.

Ganglion Impar block improves neuropathic pain in coccygodynia: A preliminary report.

AIM OF THE STUDY: To define the effectiveness of ganglion Impar block in improving neuropathic pain. MATERIALS AND METHODS: Patients who had pain around the coccyx for more than three months and did not respond to conservative treatment were included in this study. All the patients underwent fluoroscopy guided transsacrococcygeal ganglion Impar block with injecting 3 mL of 0.5% bupivacaine, 2 mL saline, and 1 mL (40 mg) of methylprednisolone. Patients were evaluated with visual analog scale (VAS) for pain, Leeds assessment of neuropathic symptoms and signs scale (LANSS) for neuropathic pain, Beck depression Inventory (BDI) for mood and Short-form 12 (SF-12) for quality of life before, 1 month 3 months and 6 months after the injection. Patients' painless sitting duration was also recorded. RESULTS: A total of 28 patients were included in the final analyses. VAS and LANSS scores improved significantly throughout the follow-up periods. BDI scores also improved while SF-12 scores did not show significant changes. Painless sitting period of the patients' improved significantly. CONCLUSIONS: Ganglion Impar block is effective in decreasing the neuropathic component of chronic coccygodynia. This improves painless sitting in patients but its reflections on quality of life is not clear.

Comparison of Spinoglenoid Versus Suprascapular Notch Approaches for Ultrasound-Guided Distal Suprascapular Nerve Blocks for Shoulder Pain: A Prospective Randomized Trial.

BACKGROUND: Distal suprascapular nerve blocks (SSNB) can be performed at the level of the suprascapular notch (the preferred site) or at the level of the spinoglenoid notch. OBJECTIVES: To compare the efficacy and safety of spinoglenoid versus suprascapular notch approaches for ultrasound (US)-guided distal SSNB in patients with chronic shoulder pain. STUDY DESIGN: Prospective randomized controlled trial. SETTING: Outpatient physical medicine and rehabilitation outpatient clinic of a tertiary center. METHODS: Eighty patients with chronic unilateral shoulder pain were included in this study. Patients were randomized into 2 groups: group 1 (SSNB at the level of the spinoglenoid notch) and group 2 (SSNB at the level of the suprascapular notch). The patients were evaluated for pain according to the Shoulder Pain and Disability Index (SPADI) and a secondary visual analog scale (VAS), as well as for the outcome measures of range of motion (ROM) and pain pressure threshold (PPT) at baseline and at one, 4, and 12 weeks after the injection. RESULTS: Statistically significant improvement was observed in the SPADI and VAS scores and ROM measurements, and the PPT measurements were similar at all post-injection follow-ups in both groups. Changes in outcome measures were similar between the groups, except for some ROM measurements at the post-injection follow-ups. LIMITATIONS: Heterogeneity of shoulder pain etiologies. CONCLUSION: Both distal SSNB approaches significantly improved pain and disability scores in patients with chronic shoulder pain, with no observable differences in the short-to-medium term. SSNB performed at the level of the spinoglenoid notch is therefore not inferior in efficacy and safety to SSNB performed at the level of the suprascapular notch.

Rheumatoid factor titers, but not Fc fragments, may be strongly associated with drug survival of anti-TNF agents in patients with rheumatoid arthritis.

OBJECTIVE: To investigate the effects of both the Fc fragment in tumor necrosis factor (TNF) inhibitors and rheumatoid factor (RF) titers on treatment survival, disease activity, and laboratory parameters in patients with rheumatoid arthritis (RA). METHODS: In this retrospective cohort study, patients with RA who had started any anti-TNF therapy between January 2017 and March 2020 and who had stayed on this treatment for at least six months were included. The data of the patients were compared separately according to continuation or discontinuation of treatment and the presence or absence of Fc portion in the structure of anti-TNFs. Patients who were taking certolizumab pegol (CZP) without the Fc fragment were placed in the "without Fc group" (wo/Fc), while patients who were taking other drugs (adalimumab, etanercept, golimumab, and infliximab) were placed in the "with Fc group" (w/Fc). RESULTS: Among the 221 RA patients whose data were available, 52 patients met the inclusion criteria and were included in the study. There was a significant difference in the DAS28-CRP score between wo/Fc group and w/Fc group in the third month of treatment (p=0.012). However, this difference did not persist at the sixth month of treatment (p=0.384). According to the cox-regression results, RF titers were determined to have a significant impact on the drug survival of anti-TNF agents when adjustments were made for the effects of other candidate predictors (Hazard ratio: 1.007 (1.002-1.012), p=0.009). CONCLUSION: Our results suggest that compared to the Fc fragment, RF titers were the more important risk factor in survival of anti-TNF drugs.

Are follistatin-like protein 1 and follistatin-like protein 3 associated with inflammatory processes in patients with familial Mediterranean fever?

OBJECTIVE: Follistatin-like protein 1 (FSTL-1) and follistatin-like protein 3 (FSTL-3) are glycoproteins whose associations with inflammatory cytokines were reported in previous studies. However, it is not yet known whether they have an effect on the pathogenesis of familial Mediterranean fever (FMF). We aimed to detect the FSTL-1 and FSTL-3 levels and to determine their relationship to the attack status and mutation types in patients with FMF. METHODS: Fifty-six FMF patients and 22 healthy controls (HCs) were included in the study. Serum FSTL-1 and FSTL-3 levels were measured with the enzyme-linked immunosorbent assay method from collected serum samples. In addition, the MEditerranean FeVer (MEFV) gene mutation types of the patients were noted. RESULTS: Serum FSTL-1 levels were significantly higher in FMF patients than in HCs (p=0.005). However, there was no significant difference in FSTL-1 levels between patients in the attack period (n=26) and in the attack-free period (n=30). FSTL-3 levels were similar between FMF patients and HCs or patients in the attack period and in the attack-free period. Furthermore, the MEFV mutation type and attack status had no significant effect on FSTL-1 and FSTL-3 levels (p>0.05). CONCLUSION: Our results suggest that FSTL-1 may be associated with the pathogenesis of FMF, rather than FSTL-3. However, neither serum FSTL-1 nor FSTL-3 seems to be good markers to reflect inflammatory activity.

Increased oxidative and chromosomal DNA damage in patients with ankylosing spondylitis: its role in pathogenesis.

Increased DNA damage has been suggested to contribute to the pathogenesis of chronic inflammatory diseases, but controlled studies are lacking in ankylosing spondylitis (AS). Therefore, we assessed oxidative stress, oxidative DNA damage, chromosomal DNA damage, cell proliferation and cell death in the peripheral blood lymphocytes of patients with AS as well as the possible role of DNA damage in the development of the disease. In total, 25 newly diagnosed AS patients who had not received anti-inflammatory agents and 25 healthy controls were recruited. Oxidative DNA damage was assessed by plasma 8-hydroxy-2'-deoxyguanosine (8-OHdG) levels, and chromosomal DNA damage was assessed by the cytokinesis-block micronucleus cytome (CBMN-cyt) method. Compared to controls, the micronucleus (MN) frequencies, nucleoplasmic bridge (NPB) frequencies, nuclear bud (NBUD) frequencies, apoptotic cell frequencies, necrotic cell frequencies and plasma 8-OHdG levels were significantly higher in patients with AS (p < 0.001, p < 0.05, p < 0.01, p < 0.001, p < 0.001, and p < 0.001, respectively), and the metaphase cell numbers, binucleated (BN) cell frequencies and nuclear division index (NDI) values were significantly lower in patients with AS (p < 0.01, p < 0.001 and p < 0.001, respectively). Thus, the present findings suggested that oxidative stress, oxidative DNA damage, and chromosomal DNA damage may be involved in the pathogenesis of AS similar to other chronic inflammatory diseases. In addition, the increased plasma 8-OHdG levels, MN frequencies, NPB frequencies and NBUD frequencies in AS patients may reflect an increased cancer risk.

Neuropathic Pain and its Relationship With Fibromyalgia, Vitamin D Status and Medication Use in Patients With Ankylosing Spondylitis.

Objective: To determine the frequency of neuropathic pain (NeP) and potentially related new factors including fibromyalgia, vitamin D and medication use in ankylosing spondylitis (AS) patients. Methods: In total, 102 patients with AS were prospectively enrolled in this study and evaluated for pain severity (visual analog scale, VAS), disease activity (the Bath Ankylosing Spondylitis Disease Activity Index, BASDAI), fibromyalgia and current medication use The presence of NeP was also assessed using the painDETECT questionnaire Blood samples were taken from all patients to analyze serum 25-hydroxyvitamin D and inflammatory marker levels. Results: NeP component 32 (21 [20.6%]; clearly NeP and 11 [10.8%]; mixed NeP) was present in patients with AS Compared to those without NeP, they had significantly higher VAS and BASDAI scores (p=0.022 and 0.003, respectively) In addition, there was a highly significant difference of frequency of fibromyalgia between patients with and without NeP (50.0% vs 5.7%, p<0.001) Vitamin D status and medication use were comparable for patients with and without NeP Logistic regression analysis revealed that only fibromyalgia was a significant predictor of NeP. Conclusion: This study confirmed that about one-third of AS patients have the NeP component In addition, NeP was found to be associated with the frequency of fibromyalgia However, no relation was found between NeP and vitamin D status and medication use in AS.

Use of fluoroscopic-guided transsacral block for the treatment of iatrogenic post-injection sciatic neuropathy: Report of three cases.

Post-injection sciatic neuropathy (PISN) from an inadvertent intramuscular injection in the gluteal region is a type of iatrogenic sciatic nerve injury. Patients with neuropathic pain following PISN frequently experience disability leading to restrictions in daily activities and pain, which may be resistant to conventional treatments and physiotherapy in some cases. To date, minimal invasive procedures for neuropathic pain have been performed with various medications at the site of lesion. Herein, we report three adult male cases with PISN-associated neu- ropathic pain who were resistant to conservative management and were treated with fluoroscopy-guided transsacral block.

Efficacy of fluoroscopy-guided triple shoulder injection for older patients with nonspecific shoulder pain.

PURPOSE: Nonspecific shoulder pain is a common complaint in older adults that impairs physical function by restricting the range of joint movement, and causing severe pain. The study evaluated the effects of fluoroscopy-guided triple shoulder injection [i.e., injection into glenohumeral (GH) joint, subacromial (SA) space, and acromioclavicular (AC) joint] on pain, function, and range of motion in older patients with nonspecific shoulder pain. METHODS: A total of 43 patients who were aged 65 years and older and diagnosed with nonspecific shoulder pain were included in this prospective, non-randomized clinical trial; 65.1% of the patients were female and mean age was 70.2 ± 5.0. Under fluoroscopic guidance, a mixture of methylprednisolone and bupivacaine was injected into the GH joint, SA space and AC joint. Patients were evaluated as per the Numeric Rating Scale for Pain (NRS-Pain), the Shoulder Pain and Disability Index (SPADI), and the active range of motion (AROM) at baseline, and again at 3 and 12 weeks after the injection. RESULTS: A statistically significant improvement was detected in NRS-Pain, SPADI, and AROM at 3 and 12 weeks after injection compared with baseline. The change in SPADI score from baseline was higher than the minimal detectable change in 67.4% of patients at 12 weeks. The SPADI score at baseline was positively correlated with the post-injection SPADI score at 3 and 12 weeks. CONCLUSIONS: In older patients with nonspecific shoulder pain, fluoroscopy-guided triple shoulder injection provides significant improvements in pain and physical function with low complication rates during the 12-week follow-up.

Pregnancy-related low back pain in women in Turkey: Prevalence and risk factors.

OBJECTIVES: To investigate the prevalence of pregnancy-related low back pain (PRLBP) in women in Turkey, identify the factors associated with PRLBP and predict the risk of PRLBP. MATERIALS AND METHODS: This cross-sectional study included a total of 1500 pregnant women admitted to a prenatal care clinic in a secondary care hospital in Turkey between August 2011 and September 2014. All participants were asked to complete a survey questionnaire. The pregnant women who reported recurrent or continuous pain in the lumbar spine or pelvis for more than 1 week were offered a clinical examination for PRLBP by the spine physiatrist. The main outcome measure was the presence of PRLBP. We collected data on sociodemographic factors, previous obstetric history, daily habits, history of LBP, and functional disability scores as assessed by the Oswestry Disability Index (ODI). RESULTS: The mean age of the 1500 women was 26.5±5.5 years. The prevalence of PRLBP was 53.9%, mostly in the third trimester. Women with PRLBP in the third trimester were more disabled than those in the first and second trimesters (mean ODI 40.0±16.7 vs. 34.9±19.2 and 37.4±15.3, respectively). Risk factors of PRLBP were history of LBP, PRLBP, and menstruation-related LBP as well as no housework assistance (OR=5.394, 95% CI: 3.128-9.300, P<0.001; 3.692, 2.745-4.964, P<0.001; 2.141, 1.563-2.932, P<0.001; 1.300, 1.029-1.64, P=0.028, respectively). CONCLUSION: This cross-sectional study is the largest study of PRLBP in the literature and showed that about 1 in 2 women have PRLBP in any stage of pregnancy. History of LBP related and unrelated to previous pregnancy and menstruation are strong risk factors for PRLBP. Receiving no housework assistance is another risk factor.

The influence of coccygeal dynamic patterns on ganglion impar block treatment results in chronic coccygodynia.

Objective Ganglion impar block (GIB) can be performed in patients with chronic coccygodynia who do not respond to conservative treatments. We investigated the effect of coccygeal dynamic patterns on the treatment outcome in patients with chronic coccygodynia treated with GIB. Materials and methods We retrospectively analyzed the data for patients diagnosed with chronic coccygodynia who underwent GIB only once by a transsacrococcygeal method under fluoroscopy guidance in our Pain Medicine Clinic. Patients were assessed with standard and dynamic coccyx radiographs and classified according to coccygeal mobility. Pain scores were assessed with a numerical rating scale (NRS) before and after the intervention (at 1 hour and 4, 12 and 24 weeks). A 50% or more reduction in the NRS score was accepted as significant pain relief. Results Of the 37 patients included in the study, 14 had normal coccyx (Group I) and 23 had immobile coccyx (Group II) based on the radiological evaluation. The NRS scores were significantly reduced in both groups on each follow-up visit but there was no significant difference between the two groups in terms of pre- and post-intervention NRS scores. Significant pain relief was achieved in 42.9% and 61.9% of patients in Group I and II at the last examination, respectively. Conclusion GIB administered by transsacrococcygeal method in patients with chronic coccygodynia is a safe and alternative treatment approach with reduced pain scores and low complication rates. In patients with chronic coccygodynia, having a normal or immobile coccyx does not appear to affect treatment outcomes.

Fluoroscopy-guided intra-articular steroid injection for sternoclavicular joint arthritis secondary to limited cutaneous systemic sclerosis: a case report.

We report a case of fluoroscopy-guided intraarticular steroid injection for sternoclavicular joint (SCJ) arthritis caused by limited cutaneous systemic sclerosis (SSc). A 50-year-old woman diagnosed with limited cutaneous SSc presented with swelling and pain in the right SCJ. MRI revealed signs of inflammation consistent with right-sided sternoclavicular joint arthritis. After the failure of oral medications, we performed fluoroscopy-guided injection in this region. She reported complete resolution of her symptoms at 4 and 12-week follow-ups. This outcome suggests that a fluoroscopy-guided SCJ injection might be a safe and successful treatment option for sternoclavicular joint arthritis.