Objective: Language disorder, a prevalent developmental disorder, impedes children’s communication skills, with genetic and environmental factors playing pivotal roles in its pathomechanism. This study aims to investigate the involvement of sequence variations in SETBP1 and CNTNAP2 genes, along with environmental variables, in language disorder’s etiology. Methods: Between September 2022 and March 2023, thirty children aged 2−7 diagnosed with language disorders according to DSM-5 criteria, and evaluated using the Ankara Developmental Screening Inventory, were studied to identify genetic and environmental factors contributing to etiology.Thirty healthy children with similar age were included as a control group. DNA samples isolated from peripheral blood of both groups were analyzed for SETBP1 and CNTNAP2 genes using next-generation sequencing (custom design panel). The frequencies and clinical significance of the identified variants was evaluated, and variant verification and segregation analyses were performed by Sanger sequencing. The obtained data were compared using appropriate statistical methods. Results: Language disorder showed a male-dominant distribution. The SETBP1 rs11082414-CC genotype frequency was significantly higher in patients (p = 0.024), and two rare variants (CNTNAP2: c.973C＞G:p.P325A; CNTNAP2: c.2236 G＞A:p.D746N) were exclusive to cases. In silico analyses yielded conflicting results for rare variants, inherited paternally from unaffected parents. Among non-genetic factors, patients had higher birth weights (p = 0.043) and shorter lactation durations (p = 0.044). Conclusion Homozygosity for SETBP1 rs11082414 polymorphic variant increases language disorder susceptibility. This study underscores the genetic dimension of language disorder, urging physicians’ awareness and early intervention strategies to mitigate its impact.

Objective: Language disorder, a prevalent developmental disorder, impedes children’s communication skills, with genetic and environmental factors playing pivotal roles in its pathomechanism. This study aims to investigate the involvement of sequence variations in SETBP1 and CNTNAP2 genes, along with environmental variables, in language disorder’s etiology. Methods: Between September 2022 and March 2023, thirty children aged 2−7 diagnosed with language disorders according to DSM-5 criteria, and evaluated using the Ankara Developmental Screening Inventory, were studied to identify genetic and environmental factors contributing to etiology.Thirty healthy children with similar age were included as a control group. DNA samples isolated from peripheral blood of both groups were analyzed for SETBP1 and CNTNAP2 genes using next-generation sequencing (custom design panel). The frequencies and clinical significance of the identified variants was evaluated, and variant verification and segregation analyses were performed by Sanger sequencing. The obtained data were compared using appropriate statistical methods. Results: Language disorder showed a male-dominant distribution. The SETBP1 rs11082414-CC genotype frequency was significantly higher in patients (p = 0.024), and two rare variants (CNTNAP2: c.973C＞G:p.P325A; CNTNAP2: c.2236 G＞A:p.D746N) were exclusive to cases. In silico analyses yielded conflicting results for rare variants, inherited paternally from unaffected parents. Among non-genetic factors, patients had higher birth weights (p = 0.043) and shorter lactation durations (p = 0.044). Conclusion Homozygosity for SETBP1 rs11082414 polymorphic variant increases language disorder susceptibility. This study underscores the genetic dimension of language disorder, urging physicians’ awareness and early intervention strategies to mitigate its impact.

Objective: Language disorder, a prevalent developmental disorder, impedes children’s communication skills, with genetic and environmental factors playing pivotal roles in its pathomechanism. This study aims to investigate the involvement of sequence variations in SETBP1 and CNTNAP2 genes, along with environmental variables, in language disorder’s etiology. Methods: Between September 2022 and March 2023, thirty children aged 2−7 diagnosed with language disorders according to DSM-5 criteria, and evaluated using the Ankara Developmental Screening Inventory, were studied to identify genetic and environmental factors contributing to etiology.Thirty healthy children with similar age were included as a control group. DNA samples isolated from peripheral blood of both groups were analyzed for SETBP1 and CNTNAP2 genes using next-generation sequencing (custom design panel). The frequencies and clinical significance of the identified variants was evaluated, and variant verification and segregation analyses were performed by Sanger sequencing. The obtained data were compared using appropriate statistical methods. Results: Language disorder showed a male-dominant distribution. The SETBP1 rs11082414-CC genotype frequency was significantly higher in patients (p = 0.024), and two rare variants (CNTNAP2: c.973C＞G:p.P325A; CNTNAP2: c.2236 G＞A:p.D746N) were exclusive to cases. In silico analyses yielded conflicting results for rare variants, inherited paternally from unaffected parents. Among non-genetic factors, patients had higher birth weights (p = 0.043) and shorter lactation durations (p = 0.044). Conclusion Homozygosity for SETBP1 rs11082414 polymorphic variant increases language disorder susceptibility. This study underscores the genetic dimension of language disorder, urging physicians’ awareness and early intervention strategies to mitigate its impact.

Objective: Language disorder, a prevalent developmental disorder, impedes children’s communication skills, with genetic and environmental factors playing pivotal roles in its pathomechanism. This study aims to investigate the involvement of sequence variations in SETBP1 and CNTNAP2 genes, along with environmental variables, in language disorder’s etiology. Methods: Between September 2022 and March 2023, thirty children aged 2−7 diagnosed with language disorders according to DSM-5 criteria, and evaluated using the Ankara Developmental Screening Inventory, were studied to identify genetic and environmental factors contributing to etiology.Thirty healthy children with similar age were included as a control group. DNA samples isolated from peripheral blood of both groups were analyzed for SETBP1 and CNTNAP2 genes using next-generation sequencing (custom design panel). The frequencies and clinical significance of the identified variants was evaluated, and variant verification and segregation analyses were performed by Sanger sequencing. The obtained data were compared using appropriate statistical methods. Results: Language disorder showed a male-dominant distribution. The SETBP1 rs11082414-CC genotype frequency was significantly higher in patients (p = 0.024), and two rare variants (CNTNAP2: c.973C＞G:p.P325A; CNTNAP2: c.2236 G＞A:p.D746N) were exclusive to cases. In silico analyses yielded conflicting results for rare variants, inherited paternally from unaffected parents. Among non-genetic factors, patients had higher birth weights (p = 0.043) and shorter lactation durations (p = 0.044). Conclusion Homozygosity for SETBP1 rs11082414 polymorphic variant increases language disorder susceptibility. This study underscores the genetic dimension of language disorder, urging physicians’ awareness and early intervention strategies to mitigate its impact.

Urolithiasis is one of the most common urological diseases worldwide, usually presenting as renal colic that leads to severe pain that requires analgesic treatment. This study aimed to compare the efficacy of ketamine and desmopressin in the pain management of renal colic patients. Methods This double-blind, randomized clinical trial was conducted on renal colic patients referred to the emergency department from June 2021 to July 2022. Patients were randomly assigned to three groups. In the desmopressin group, patients were treated with intranasal desmopressin and intravenous ketorolac. The ketamine group was treated with intranasal ketamine and ketorolac. The control group received ketorolac and an intranasal placebo. Vital signs were evaluated at baseline and 60 minutes; and pain scores were assessed at baseline, 10, 30, and 60 minutes after treatment. Results Enrollment included 135 patients, the mean (standard deviation) age was 44.1±11.4 years, and 82 (60.7%) were men. The mean visual analog scale scores were significantly lower at 10, 30, and 60 minutes in the ketamine group (5.6±1.2, 3.0±1.1, and 0.9±0.9, respectively) compared to the control (8.2±1.1, 5.1±2.0, and 2.3±2.6, respectively) and desmopressin (6.7±1.8, 4.2±2.2, and 1.3±1.4, respectively) groups (P<0.05). Although patients in the desmopressin group had lower mean pain scores than the control group at 10, 30, and 60 minutes, this difference was only significant at 10 minutes after the intervention (P<0.05). No significant differences in vital signs were found at 60 minutes after treatment. Conclusion Ketamine showed more favorable analgesic effects in renal colic patients than desmopressin, although desmopressin showed efficacy in the first minutes posttreatment.

Objective: The present study aims to compare the levels of 7 microRNAs (mi-RNAs) (mi-RNA-125b, mi-RNA-23a-3p, mi-RNA-146a-5p, mi-RNA-106a, mi-RNA-151a-3p, mi-RNA-28, mi-RNA-125a) in the blood of the preschool children with autism and those of their siblings with healthy controls, and to investigate the association between these mi-RNAs and the severity of autism, behavioral problems, and siblings’ autistic traits. Methods: A total of 35 children diagnosed with autism spectrum disorder (ASD) at the ages of 18−60 months (patient group), 35 non-affected siblings of the ASD group (sibling group), and 30 control subjects (control group) were involved in the study. The severity of ASD was measured using the Childhood Autism Rating Scale and the Autism Behavior Checklist (ABC). The behavioral problems of the children with ASD were assessed with the Aberrant Behavior Checklist, and the autistic traits of the siblings were assessed using the Autism spectrum screening scale for children. Results: mi-RNA-106a-5p, mi-RNA-151a-3p, and mi-RNA-28-3p were found to be expressed significantly lower in the patient group compared to the control group. There was a significant positive correlation between mi-RNA-23a and the sensory subscale of the ABC. mi-RNA-151a was significantly associated with sound sensitivity and mi-RNA-28 with echolalia. After controlling for age and sex, the differences between groups were disappeared. Conclusion The present study examined mi-RNAs that have been reported as biomarkers in the literature. Although several symptom clusters are found to be related to certain mi-RNA expression levels, they were not found to be significant in discriminating the patient and healthy groups.

Introduction: Neglected Club Foot deformity is not an uncommon limb anomaly encountered by orthopaedic surgeons. Many treatment methods have been proposed. Ilizarov apparatus is one of the techniques used to correct this deformity. Materials and methods: In this cross-sectional study 47 patients (56 feet) between the ages of 5 and 10 years with clubfoot deformity were treated using the Ilizarov external fixator. Age, sex, type of deformity, and radiographic parameters were measured on foot radiographs. Also, the American Orthopaedic Foot and Ankle Society (AOFAS) score and the Dimeglio classification were recorded for each patient before and after treatment. Results: The treatment was unilateral in 38 patients and bilateral in 9 patients. 39 patients (69.6%) were male, and 17 patients (30.4%) were female with a mean age of 7.86 ± 1.4 years. Plantar angles of ankle flexion and ankle flexion curve increased from 20.12±6.52 and -16.51±8.36 to 25.89±6.44 and 6.19±6.42, respectively. There was also an improvement in the talocalcaneal and tibiocalcaneal angles. Also, the angle between the first metatarsus and the talus in the front and side views improved (P<0.00). Additionally, the mean AOFAS score and Dimeglio classification significantly improved. Three cases were complicated with distal tibial physeal separation that were treated with additional open surgeries. Conclusion: Ilizarov technique without osteotomies and soft tissue release could be considered a less invasive and successful method of treatment for neglected clubfoot deformity in patient five to ten years old that are not good candidate for Ponseti method.

Purpose: The aim of this study was to conduct a scoping review and meta-analysis to provide overall estimates of the recall and precision of artificial intelligence for detection and segmentation using oral and maxillofacial cone-beam computed tomography (CBCT) scans. Materials and Methods: A literature search was done in Embase, PubMed, and Scopus through October 31, 2022 to identify studies that reported the recall and precision values of artificial intelligence systems using oral and maxillofacial CBCT images for the automatic detection or segmentation of anatomical landmarks or pathological lesions. Recall (sensitivity) indicates the percentage of certain structures that are correctly detected. Precision (positive predictive value) indicates the percentage of accurately identified structures out of all detected structures. The performance values were extracted and pooled, and the estimates were presented with 95% confidence intervals (CIs). Results: In total, 12 eligible studies were finally included. The overall pooled recall for artificial intelligence was 0.91 (95% CI: 0.87-0.94). In a subgroup analysis, the pooled recall was 0.88 (95% CI: 0.77-0.94) for detection and 0.92 (95% CI: 0.87-0.96) for segmentation. The overall pooled precision for artificial intelligence was 0.93 (95% CI: 0.88-0.95). A subgroup analysis showed that the pooled precision value was 0.90 (95% CI: 0.77-0.96) for detection and 0.94 (95% CI: 0.89-0.97) for segmentation. Conclusion Excellent performance was found for artificial intelligence using oral and maxillofacial CBCT images.(Imaging Sci Dent 2023; 53: 101-8)

Methods: Male Wistar rats were randomly assigned to five groups (n=10 per group). The clip compression injury model was used to induce chronic central neuropathic pain. Three weeks after SCI, DCPG, siRNA, or normal saline were administered to the intra-ventrolateral PAG region. Withdrawal threshold to the noxious thermal stimulus (e.g., heat hyperalgesia) was assessed through the tail-flick test. In order to assure involvement of this receptor, pain responses were compared with mice that received GRM8 siRNA. Results: We found that the mGluR8 agonist DCPG increased lead to an increased expression of mGluR8 in the PAG region. We also found that SCI can decrease the threshold of response to painful thermal stimuli; however, activation of mGluR8 with DCPG agonist did not significantly improve the tail-flick response. Conclusions The results revealed that activation of mGluR8 in PAG is not capable of improving the thermal hyperalgesia threshold. Based on the decreased expression of mGluR8 after SCI induced by clip compression injury and its significant increase after treatment of siRNA against mGluR8, this method might still hold promise as an effective treatment of neuropathic pain. It can be concluded that increased expression of mGluR8 is due to the fact that DCPG prevents the death of neurons that express these receptors.

Methods: Male Wistar rats were randomly assigned to five groups (n=10 per group). The clip compression injury model was used to induce chronic central neuropathic pain. Three weeks after SCI, DCPG, siRNA, or normal saline were administered to the intra-ventrolateral PAG region. Withdrawal threshold to the noxious thermal stimulus (e.g., heat hyperalgesia) was assessed through the tail-flick test. In order to assure involvement of this receptor, pain responses were compared with mice that received GRM8 siRNA. Results: We found that the mGluR8 agonist DCPG increased lead to an increased expression of mGluR8 in the PAG region. We also found that SCI can decrease the threshold of response to painful thermal stimuli; however, activation of mGluR8 with DCPG agonist did not significantly improve the tail-flick response. Conclusions The results revealed that activation of mGluR8 in PAG is not capable of improving the thermal hyperalgesia threshold. Based on the decreased expression of mGluR8 after SCI induced by clip compression injury and its significant increase after treatment of siRNA against mGluR8, this method might still hold promise as an effective treatment of neuropathic pain. It can be concluded that increased expression of mGluR8 is due to the fact that DCPG prevents the death of neurons that express these receptors.