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Autism is associated with genomic instability, which is regulated by telomere length (TL) and index of global methylation (LINE-1). This study will determine relative TL (RTL) and LINE-1 methylation percentage for 69 patients and 33 control subjects to evaluate their potential role as biomarkers for autism. The results displayed a significant decrease of both RTL and LINE-1 methylation in autistic cases relative to controls (P < 0.001). Analysis of receiver operating characteristics curve revealed that both of RTL and LINE-1 methylation percentage have the ability to serve as autism biomarkers (area under the curve = 0.817 and 0.889, respectively). The statistical analysis revealed positive correlation between the two biomarkers (correlation coefficient = 0.439 and P < 0.001). [ABSTRACT FROM AUTHOR]

Although chronic orofacial pain (COFP) is common among older adults, the role of psychological factors in pain outcomes among this population has received limited attention. This study examined the role of anxiety and pain catastrophizing, two corelates of pain in other populations, in pain intensity and interference among 166 older adults with COFP (79% female, Mage = 68.84, SD = 5.56). Participants completed an online survey including measures of anxiety, pain catastrophizing, and pain intensity/interference. We applied mediation analyses to test indirect associations between anxiety and pain outcomes via pain catastrophizing. Results indicated that anxiety was positively associated with pain intensity and pain interference (bs =.70–1.12, ps <.05). There was also an indirect association between anxiety and pain interference through pain catastrophizing (b =.35, 95% CI [.0383,.7954]), indicating pain catastrophizing partially accounts for this relationship. Assessing and addressing anxiety and pain catastrophizing has the potential to improve treatment outcomes in this population. [ABSTRACT FROM AUTHOR]

Purpose: There have been no reports on the application of salivary iodine concentration (SIC) in evaluating iodine nutrition in pregnant women. This study aimed to clarify the relationship between SIC and indicators of iodine nutritional status and thyroid function during pregnancy, to investigate whether salivary iodine can be applied to the evaluation of iodine nutritional status in pregnant women, and to provide a reference basis for establishing a normal range of salivary iodine values during pregnancy. Methods: Pregnant women were enrolled in the Department of Obstetrics, the people's hospital of Yuncheng Country, Shandong Province, from July 2021 to December 2022, using random cluster sampling. Saliva, urine, and blood samples were collected from pregnant women to assess iodine nutritional status, and venous blood was collected to determine thyroid function. Results: A total of 609 pregnant women were included in this study. The median spot urinary iodine concentration (SUIC) was 261 μg/L. The median SIC was 297 μg/L. SIC was positively correlated with SUIC (r = 0.46, P < 0.0001), 24-h UIC (r = 0.30, P < 0.0001), 24-h urinary iodine excretion (24-h UIE) (r = 0.41, P < 0.0001), and estimated iodine intake (EII) (r = 0.52, P < 0.0001). After adjusting for confounders, there was a weak correlation between SIC and serum total iodine and serum non-protein-bound iodine (P = 0.02, P = 0.04, respectively). Pregnant women with a SIC < 176 μg/L had a higher risk of insufficient iodine status (OR = 2.07, 95% CI 1.35–3.19) and thyroid dysfunction (OR = 2.71, 95% CI 1.18–6.21) compared to those with higher SIC. Those having SIC > 529 μg/L were more likely to have excessive iodine status (OR = 2.82, 95% CI 1.81–4.38) and thyroid dysfunction (OR = 3.04, 95% CI 1.36–6.78) than those with lower SIC values. Conclusion: SIC is associated with urinary iodine concentration and thyroid function in pregnant women. SIC < 176 μg/L was associated with an increased risk for iodine deficiency and hypothyroxinemia, while SIC > 529 μg/L was related to excess and thyrotoxicosis. SIC can be used as a reference indicator for evaluating the iodine nutrition status of pregnant women, but it needs further investigation and verification. Trial registration: NCT04492657(Aug 9, 2022). [ABSTRACT FROM AUTHOR]

Background: Video-assisted thoracoscopic surgery (VATS) often induces significant postoperative pain, potentially leading to chronic pain and decreased quality of life. This study aimed to evaluate the acetaminophen/ibuprofen combination effectiveness in reducing analgesic requirements and pain intensity in patients undergoing VATS. Study design: This is a double-blinded randomized controlled trial. Methods: Adult patients scheduled for elective VATS for lung resection were randomized to receive either intravenous acetaminophen and ibuprofen (intervention group) or 100 mL normal saline (control group). Treatments were administered post-anesthesia induction and every 6 h for three cycles. The primary outcome was total analgesic consumption at 24 h postoperatively. Secondary outcomes were cumulative analgesic consumption at 2 and 48 h; analgesic-related side effects at 2, 24, and 48 h; quality of recovery at 24 h and 48 h postoperatively; pain intensity at rest and during coughing; and rescue analgesics use. Chronic postsurgical pain (CPSP) was assessed through telephone interviews 3 months postoperatively. Results: The study included 96 participants. The intervention group showed significantly lower analgesic consumption at 24 h and 48 h postoperatively (24 h: median difference: − 100 µg equivalent intravenous fentanyl [95% confidence interval (CI) − 200 to − 5 μg], P = 0.037; 48 h: median difference: − 140 μg [95% CI − 320 to − 20 μg], P = 0.035). Compared to the controls, the intervention group exhibited a significantly lower quality of recovery 24 h post-surgery, with no significant difference at 48 h. All pain scores except for coughing at 48 h post-surgery were significantly lower in the intervention group compared to the controls. No significant differences were observed between the groups in postoperative nausea and vomiting occurrence, hospital stay length, and CPSP. Conclusion: Perioperative administration of acetaminophen/ibuprofen significantly decreased analgesic needs in patients undergoing VATS, providing an effective postoperative pain management strategy, and potentially minimizing the need for stronger analgesics. [ABSTRACT FROM AUTHOR]

Summary: This study investigated bone mineral density assessment for patients with DISH. DXA-based T-scores overestimated bone quality, while MRI-based VBQ scores and CT-based HU values provided accurate assessments, particularly for advanced degenerative cases. This enhances accurate evaluation of BMD, crucial for clinical decision-making. Purpose: To investigate the diagnostic effectiveness of DXA, MRI, and CT in assessing bone mineral density (BMD) for diffuse idiopathic skeletal hyperostosis (DISH) patients. Methods: Retrospective analysis of 105 DISH patients and 116 age-matched controls with lumbar spinal stenosis was conducted. BMD was evaluated using DXA-based T-scores, MRI-based vertebral bone quality (VBQ) scores, and CT-based Hounsfield unit (HU) values. Patients were categorized into three BMD subgroups. Lumbar osteophyte categories were determined by Mata score. Demographics, clinical data, T-scores, VBQ scores, and HU values were collected. Receiver operating characteristic (ROC) analysis identified VBQ and HU thresholds for diagnosing normal BMD using DXA in controls. Correlations between VBQ, HU, and lumbar T-score were analyzed. Results: Age, gender, and BMI showed no significant differences between DISH and control groups. DISH patients had higher T-score (L1–4), the lowest T-score, and Mata scores. VBQ and HU did not significantly differ between groups. In controls, VBQ and HU effectively diagnosed normal BMD (AUC = 0.857 and 0.910, respectively) with cutoffs of 3.0 for VBQ and 104.3 for HU. DISH had higher normal BMD prevalence using T-scores (69.5% vs. 58.6%, P < 0.05), but no significant differences using VBQ (57.1% vs. 56.2%, P > 0.05) and HU (58.1% vs. 57.8%, P > 0.05). Correlations revealed moderate correlations between HU and T-scores (L1–4) in DISH (r = 0.642, P < 0.001) and strong in controls (r = 0.846, P < 0.001). Moderate negative correlations were observed between VBQ and T-scores (L1–4) in DISH (r = − 0.450, P < 0.001) and strong in controls (r = − 0.813, P < 0.001). Conclusion: DXA-based T-scores may overestimate BMD in DISH. VBQ scores and HU values could effectively complement BMD assessment, particularly in DISH patients or those with advanced lumbar degeneration. [ABSTRACT FROM AUTHOR]

Background: Three types of primary hyperoxaluria (PH) are recognized. However, data on PH type 2 (PH2), caused by defects in the GRHPR gene, are limited. Methods: We reviewed the medical records of patients < 18 years of age with genetically-proven PH2 from seven centres across India to identify the age of onset, patterns of clinical presentation, short-term outcomes and genetic profile, and to determine if genotype–phenotype correlation exists. Results: We report 20 patients (all with nephrolithiasis or nephrocalcinosis) diagnosed to have PH2 at a median (IQR) age of 21.5 (7, 60) months. Consanguinity and family history of kidney stones were elicited in nine (45%) and eight (40%) patients, respectively. The median (IQR) serum creatinine at PH2 diagnosis was 0.45 (0.29, 0.56) mg/dL with the corresponding estimated glomerular filtration rate being 83 (60, 96) mL/1.73 m2/min. A mutational hotspot (c.494 G > A), rare in Caucasians, was identified in 12 (60%) patients. An intronic splice site variant (c.735-1G > A) was noted in five (25%) patients. Four (20%) patients required surgical intervention for stone removal. Major adverse kidney events (mortality or chronic kidney disease (CKD) stages 3–5) were noted in six (30%) patients at a median (IQR) follow-up of 12 (6, 27) months. Risk factors for CKD progression and genotype–phenotype correlation could not be established. Conclusions: PH2 should no longer be considered an innocuous disease, but rather a potentially aggressive disease with early age of presentation, and possible rapid progression to CKD stages 3–5 in childhood in some patients. A mutational hotspot (c.494 G > A variant) was identified in 60% of cases, but needs further exploration to decipher the genotype–phenotype correlation. [ABSTRACT FROM AUTHOR]