Investigation of (Epi)genetic causes in syndromic short children born small for gestational age.

Intrauterine onset syndromic short stature constitutes a group of diseases that pose challenges in differential diagnosis due to their rarity and clinical as well as molecular heterogeneity. The aim of this study was to investigate the presence of (epi)genetic causes in children born small for gestational age (SGA) and manifesting clinically undiagnosed syndromic short stature. The study group comprised twenty-nine cases selected from the syndromic SGA cohort. Various analyses were performed, including chromosomal microarray (CMA), methylation-specific-multiple ligation probe amplification for chromosomes 6,14 and 20, and whole exome sequencing (WES). Pathogenic copy number variants (CNVs) on chromosomes 2q13, 22q11.3, Xp22.33, 17q21.31, 19p13.13 and 4p16.31 causing syndromic growth disturbance were detected in six patients. Maternal uniparental disomy 14 was identified in a patient. WES was performed in the remaining 22 patients, revealing pathogenic variants in nine cases; six were monoallelic (ACAN, ARID2, NIPBL, PIK3R1, SMAD4, BRIP1), two were biallelic (BRCA2, RFWD3) and one was hemizygous (HUWE1). Seven of these were novel. Craniofacial dysmorphism, which is an important clue for the diagnosis of syndromes, was very mild in all patients. This study unveiled, for the first time, that ARID2 mutatios can cause syndromic SGA. In conclusion, a high (55.2%) diagnosis rate was achieved through the utilization of CMA, epigenetic and WES analyzes; 15 rare syndromes were defined, who were born with SGA and had atypical and/or mild dysmorphic findings. This study not only drew attention to the association of some rare syndromes with SGA, but also introduced novel genes and CNVs as potential contributors to syndromic SGA.

Association of Intelectin 1 Gene rs2274907 A > T Polymorphism with Obesity, Type 2 Diabetes, Serum Intelectin-1 Levels and Lipid Profiles in Turkish Adults.

The anti-inflammatory adipokine intelectin-1, which is encoded by the ITLN1 gene, is hypothesized to be linked to the pathogenesis of type 2 diabetes (T2DM) and obesity. The purpose of this study was to examine the effect of the ITLN1 gene polymorphism rs2274907 on obesity and T2DM in Turkish adults. The impact of genotype on lipid profiles and serum intelectin levels in the obese and diabetes groups was also investigated. Randomly selected 2266 adults (mean age, 55.0 ± 11.7 years; 51.2% women) participating in the population-based Turkish adult risk factor study were cross-sectionally analyzed. The genotyping of rs2274907 A > T polymorphism was performed by using the hybridization probe based LightSNiP assay in real-time PCR. T2DM were defined using the criteria of the American Diabetes Association. Obesity was described as Body mass index ≥ 30 kg/m2. Statistical analyses were used to investigate the association of genotypes with clinical and biochemical measurements. According to findings, there was no vital connection between the rs2274907 polymorphism and obesity, T2DM, or serum intelectin-1 level. The TA+AA carriers had significantly higher triglyceride levels (p = 0.007) compared with the TT carriers in both obese and T2DM women when adjusted for relevant covariates. ITLN1 rs2274907 polymorphism is not correlated with the risk of obesity and T2DM and not affect serum ITLN1 levels in Turkish adults. However, this polymorphism appears to be important in regulating triglyceride levels in obese and diabetic women.

The ability of calcaneal and multisite quantitative ultrasound variables in the identification of osteoporosis in women and men.

OBJECTIVES: The aim of this study was to assess the ability of calcaneal and multisite quantitative ultrasound (QUS) parameters in the identification of osteoporosis in women and men. PATIENTS AND METHODS: A total of 131 women (mean age 53.7±11.9 years; range, 21 to 79 years) and 109 men (mean age 57.8±13.7 years; range, 24 to 85 years) whose bone mineral density (BMD) at the spine and proximal femur was measured between January 2010 and January 2012, using dual-energy X-ray absorptiometry (DXA) were included. Acoustic bone properties were also examined using both a calcaneal and a multisite QUS. The receiver operating characteristic analysis with the calculation of areas under the curve (AUCs) to evaluate the ability of both QUS devices for the identification of osteoporosis. We also calculated a lower and an upper threshold at a specificity of 90% and at a sensitivity of 90%, respectively, for the identification of osteoporosis along with a threshold/cut-off value with the best compromise between sensitivity and specificity. RESULTS: All calcaneal QUS parameters showed significant AUCs within the range of 0.712 (for Broadband Ultrasound Attenuation [BUA]) and 0.764 (for Speed of Sound [SOS]) in women and ranging from 0.661 (for BUA) to 0.735 (for SOS) in men, while only radial SOS of the multisite QUS demonstrated a significant AUC value of 0.661 for identifying osteoporosis in women. A Quantitative Ultrasound Index T-score of -1.53 for women and -1.68 for men showed sensitivity and specificities around 70%. CONCLUSION: Based on the results of this study, all calcaneal QUS parameters in both women and men and possibly radial SOS measurements of the multisite QUS in women may be helpful for the identification of osteoporosis.

Comparison of the efficacy of lidocaine and betamethasone dipropionate in carpal tunnel syndrome injection.

BACKGROUND: Carpal tunnel syndrome (CTS) is a commonly seen peripheral nerve mononeuropathy. Corticosteroid injection within the carpal tunnel is among the conservative treatment options. The exact mechanism of action of steroids is not fully clear; decreased inflammation surrounding nerves or tendons is thought to be the main effect. Lidocaine has been shown to have anti-inflammatory effects on certain cells (monocytes, macrophages, neutrophils etc.). The aim of this study is to evaulate the efficacy of lidocaine treatment as a alternative to corticosteroid treatment in carpal tunnel syndrome. METHODS: A total of 67 carpal tunnel syndrome patients who were diagnosed with physical examination and EMG were evaluated. Twenty-nine patients received a mixture of normal saline solution and lidocaine (0.5 cc of normal saline solution and 0.5 cc of lidocaine) while 38 patients were administered betamethasone dipropionate (1 cc). Quick DASH (Disabilities of the Arm, Shoulder and Hand) and Visual Analog Scale (VAS) scores were noted in 1st, 3rd and 6th month follow-ups. RESULTS: There were no significant difference between saline solution + Lidocaine group and betamethasone dipropionate groups; initial, 1st, 3rd and 6th month VAS scores and QDASH scores (p > 0.05). CONCLUSION: Considering the potential side effects of corticosteroid, lidocaine injection is a good alternative treatment of carpal tunnel syndrome instead of corticosteroids.

Efficacy of single-dose hyaluronic acid products with two different structures in patients with early-stage knee osteoarthritis.

[Purpose] There are many types of hyaluronic acid preparations, but no clear data are available about which preparations is more effective. The aim of this trial was to investigate the effectiveness of different types of hyaluronic acid preparations on pain and function of inpatients with knee osteoarthritis. [Subjects and Methods] All patients were diagnosed by clinical examination and x-ray. Ostenil PLUS® was injected into 28 patients (group 1, 1.6 million daltons), and MONOVISC® (group 2, 2.5 million daltons) was injected into 46 patients. Demographic data and Western Ontario and McMaster Universities Osteoarthritis Index and Visual Analog Scale scores were used for clinical evaluation at 1, 3, and 6 months post injection. [Results] In both groups, baseline Ontario and McMaster Universities Osteoarthritis Index and Visual Analog Scale scores were higher compared with those in subsequent evaluations. Based on the pre- and post-injection data, a significant reduction in all scores was observed after the injections for in both groups. According to intergroup comparisons, there was no significant difference in any of the scores between the two groups. [Conclusion] There were no difference in Ontario and McMaster Universities Osteoarthritis Index and Visual Analog Scale scores in patients with knee osteoarthritis injected with two different hyaluronic acid structures in short-term preparations.