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Abstract Background Catheter-related bladder discomfort (CRBD) and pain commonly arises postoperatively in patients who undergo intra-operative urinary catheterization. The study aims to demonstrate the effectiveness of intravenous lidocaine to prevent CRBD and postoperative pain in complex lumbar spinal surgery. Methods Eighty male patients, aged 20–79 years, scheduled for elective fusion spine surgery at least two levels were randomly assigned to receive either intravenous lidocaine (1.5 mg/kg followed by 2 mg/kg/h) (Group L) or a parallel volume of normal saline (Group C). The primary outcome was incidence of moderate to severe CRBD in a postanesthetic care unit (PACU) between the two groups. Secondary outcomes included postoperative pain, 24-hour post operative opioid requirement, mild and moderate to severe CRBD at 1, 2, 6 and 24 h postoperatively, patient satisfaction on Global Perceived Effect Scale (GPES), and the adverse effects of lidocaine and surgical complications. Results Group L showed a significantly lower incidence of moderate-to-severe CRBD compared to Group C in the PACU (P = 0.002) and at 1 h postoperatively (P = 0.039). Additionally, Group L experienced a significantly lower average pain scores compared to Group C at all time points (P

Abstract The fragile X premutation is a public health concern worldwide. Implementing a comprehensive screening program for FMR1 premutation alleles could empower individuals and families with information, supporting informed health decisions and potentially reducing the incidence of fragile X syndrome (FXS). This study aimed to determine the prevalence of FMR1 premutations in the Thai population. We screened 369 female blood donors and 449 males with tremor and/or ataxia who tested negative for spinocerebellar ataxia (SCA) types 1, 2, and 3 for FMR1 CGG repeat expansions. Among the female blood donors, 0.27% (1/369) had a premutation allele, and 1.08% (4/369) had intermediate alleles. One female with a premutation carrier had 89 CGG repeats with one AGG interruption. In the male cohort, no premutations or full mutations were found; however, intermediate alleles were identified in 0.67% (3/449) of the males. This study provides the evidence of fragile X premutation screening in the Thai population. These findings contribute to the understanding of FMR1 premutation prevalence in Thailand and should encourage wider discussions on the feasibility for a national fragile X carrier screening program in Thailand to reduce the burden of fragile X-associated disorders.

Background: Long COVID have posed a global health burden since the COVID-19 pandemic. This study aimed to evaluate the efficacy and safety of a combined plant extract (CPE) formulation, containing Citrus aurantifolia, Tiliacora triandra, Cannabis sativa, Alpinia galanga, and Piper nigrum, in participants with long COVID. A newly developed long COVID symptom questionnaire was used to evaluate outcomes. Methods: This randomized, double-blinded, placebo-controlled trial was conducted at the College of Pharmacy, Rangsit University, Thailand. Participants were randomly assigned to receive either a CPE supplement (4500 mg/day) or a placebo for 7 days. Primary outcomes were changes in C-reactive protein (CRP) levels and the total symptom score (ranging from 0 to 57 points). Secondary outcomes included full recovery/improvement of long COVID symptoms, health-related quality of life (HRQOL), and adverse events. Results: A total of 66 participants were enrolled, with 33 in each group. The CPE supplement did not significantly reduce CRP levels, with a median difference (MD) (95 % CI) of −0.05 (−0.49, 0.39) mg/L compared to placebo. However, the CPE group showed a reduction in the total symptom score [MD (95 % CI) of −4.00 (−7.58, −0.42)], and a reduction in overall moderate to severe symptoms [RR (95 % CI) of 0.57 (0.35, 0.91)], moderate to severe fatigue [RR (95 % CI) of 0.25 (0.08, 0.81)], and moderate to severe post-exertional malaise (PEM) [RR (95 % CI) of 0.35 (0.16, 0.78)]. Changes in HRQOL scores did not differ significantly between groups. Adverse events were mostly mild and resolved by the end of the follow-up period. Conclusions: Our study suggests potential benefits of the CPE in alleviating moderate to severe long COVID symptoms, particularly fatigue and PEM, with an acceptable safety profile. However, larger-scale trials are necessary to validate these findings, and assessing the reliability of the long COVID symptom questionnaire is essential before its application in future studies. Trial registration number:: TCTR20230131004 (Registration date: 2023–01–31, Thai Clinical Trials Registry).

BackgroundApixaban and amiodarone are drugs used for non-valvular atrial fibrillation (NVAF) in routine practice. The evidence about apixaban plasma levels in patients who receive apixaban with amiodarone, including bleeding outcomes, has been limited. This study aimed to compare the apixaban plasma levels and bleeding outcomes between apixaban monotherapy and apixaban with amiodarone groups.MethodsThis study was a prospective, observational, and single-center research which was conducted from January 2021 to January 2022 in NVAF patients who received apixaban at a tertiary care hospital located in the center of Bangkok, Thailand.ResultsThirty-three patients were measured for their median (5th-95th percentile) apixaban plasma levels. The trough of apixaban plasma level (Ctrough) were 108.49 [78.10-171.52] and 162.05 [87.94-292.88] μg/L in the apixaban monotherapy and apixaban with amiodarone groups, respectively (p = 0.028). Additionally, the peaks of apixaban plasma level (Cpeak) were 175.36 [122.94-332.34] and 191 [116.88-488.21] μg/L in the apixaban monotherapy and apixaban with amiodarone groups, respectively (p = 0.375). There was bleeding that occurred in 7 patients (21.21%); 5 patients in the apixaban monotherapy group and 2 patients in the apixaban with amiodarone group, respectively.ConclusionsAmiodarone may increase the peaks and troughs of apixaban plasma levels. The co-administration of apixaban with amiodarone is generally well tolerated. However, the careful observation of bleeding symptoms in individual cases is necessary to ensure safety.

Objectives This study compared feature selection by machine learning or expert recommendation in the performance of classification models for in-hospital mortality among patients with acute coronary syndrome (ACS) who underwent percutaneous coronary intervention (PCI). Methods A dataset of 1,123 patients with ACS who underwent PCI was analyzed. After assigning 80% of instances to the training set through random splitting, we performed feature scaling and resampling with the synthetic minority over-sampling technique and Tomek link method. We compared two feature selection methods: recursive feature elimination with cross-validation (RFECV) and selection by interventional cardiologists. We used five simple models: support vector machine (SVM), random forest, decision tree, logistic regression, and artificial neural network. The performance metrics were accuracy, recall, and the false-negative rate, measured with 10-fold cross-validation in the training set and validated in the test set. Results Patients’ mean age was 66.22 ± 12.88 years, and 33.63% had ST-elevation ACS. Fifteen of 34 features were selected as important with the RFECV method, while the experts chose 11 features. All models with feature selection by RFECV had higher accuracy than the models with expert-chosen features. In the training set, the random forest model had the highest accuracy (0.96 ± 0.01) and recall (0.97 ± 0.02). After validation in the test set, the SVM model displayed the highest accuracy (0.81) and a recall of 0.61. Conclusions Models with feature selection by RFECV had higher accuracy than those with feature selection by experts in identifying patients with ACS at high risk for in-hospital mortality.

Abstract The purpose of this study was to evaluate the performance of convolutional neural network-based models for the detection and classification of maxillofacial fractures in computed tomography (CT) maxillofacial bone window images. A total of 3407 CT images, 2407 of which contained maxillofacial fractures, were retrospectively obtained from the regional trauma center from 2016 to 2020. Multiclass image classification models were created by using DenseNet-169 and ResNet-152. Multiclass object detection models were created by using faster R-CNN and YOLOv5. DenseNet-169 and ResNet-152 were trained to classify maxillofacial fractures into frontal, midface, mandibular and no fracture classes. Faster R-CNN and YOLOv5 were trained to automate the placement of bounding boxes to specifically detect fracture lines in each fracture class. The performance of each model was evaluated on an independent test dataset. The overall accuracy of the best multiclass classification model, DenseNet-169, was 0.70. The mean average precision of the best multiclass detection model, faster R-CNN, was 0.78. In conclusion, DenseNet-169 and faster R-CNN have potential for the detection and classification of maxillofacial fractures in CT images.

Abstract Background Cardiac resynchronization therapy (CRT) is one of the crucial treatments in patients with symptomatic heart failure reduced ejection fraction. This study aimed to report the efficacy and safety of CRT implantation in treating patients with heart failure. The responders and related outcomes were also analyzed. Methods Medical records of all patients with CRT implantation, because of heart failure treatment indication, in Phramongkutklao Hospital between 2008 and 2019 were reviewed. Free from death and heart failure hospitalization were analyzed as composited efficacy outcomes with survival analysis. Follow‐up echocardiography was used to define a responder. The safety outcomes were reported using descriptive data. Cox‐proportional hazard model analysis was used for the responder as a predictor of outcomes. Results A total of 152 patients underwent CRT implantation because of heart failure. 77.63% were male, the mean age of 65.9 ± 13.19 years, 59.85% were diagnosed with ischemic cardiomyopathy, mean LVEF of 22.69 ± 7.51%, and QRS duration of 147 ± 21 ms. Mean Follow‐up was 41 months. The composited efficacy outcomes were 91.7%, 54.8%, and 35.4% at 1, 5, and 10 years, respectively. CRT‐related complications were found in 12 patients (7.89%). 71.30% of patients who were responders had lower death or heart failure hospitalization when compared to non‐responders (HR: 0.43, 95% CI: 0.24–0.78). Conclusion The efficacy and safety in CRT treating patients in our center were consistent with the previous randomized and observational studies. The responder rate remained the same as in previous trials but was a strong predictor for better outcomes.

Chimerism is a very rare genetic finding in human. Most reported cases have a chi 46,XX/46,XY karyotype. Only three non-twin cases carrying both trisomy 21 and a normal karyotype have been reported, including two cases with a chi 47,XY,+21/46,XX karyotype and a case with a chi 47,XX,+21/46,XY karyotype. Herein we describe an additional case with a chi 47,XY,+21/46,XX karyotype. For the case, a physical examination at the age of 1 year revealed ambiguous genitalia with no features of Down syndrome or other malformations. Growth and developmental milestones were within normal ranges. We performed short tandem repeat (STR) and single nucleotide polymorphism (SNP) microarray analyses to attempt to identify the mechanism underlying the chimerism in this patient and the origin of the extra chromosome 21. Cytogenetic analyses of the patient’s peripheral blood revealed approximately 17% of a 47,XY,+21 lineage by G-banding karyotype analysis, 13%–17% by FISH analyses of uncultured peripheral blood, and 10%–15% by SNP microarray analysis. Four years later, the percentage of trisomy 21 cells had decreased to approximately 6%. SNP microarray and STR analyses revealed a single maternal and double paternal genetic contribution to the patient for the majority of the markers, including the chromosome 21 markers. The extra chromosome 21 was paternally derived and meiosis I nondisjunction likely occurred during spermatogenesis. The mechanisms underlying chimera in our case was likely fertilization two spermatozoa, one with an ovum and the other with the second polar body.

Fragile X (FRAXA) syndrome and fragile XE (FRAXE) syndrome are caused by the expansion of a trinucleotide repeat in the FMR1 and FMR2 genes, respectively. Currently, there are several methods available for fragile X syndrome screening in a large population, however these methods require relatively expensive equipment and have limitations in some laboratory settings. This study developed a multiplex PCR of triplet repeats in FMR1 and FMR2 genes using standard PCR instruments. The new multiplex PCR method was tested in known samples with variable repeat sizes of FMR1 and FMR2 genes to validate the technique and was then applied to prospective index male samples. All the multiplex PCR results matched well results from standard methods. We propose a single‐tube multiplex PCR technique, which is very reliable for rapid screening FMR1 and FMR2 normal and expanded alleles in males for a large cohort study, and can be used in limited-resource settings.

Objective: This study aimed to report the efficacy and safety of 1-year outcome for single-procedure radiofrequency catheter ablation (RFCA) at Phramongkutklao Hospital. Methods: Review of medical records was carried out on consecutive patients with symptomatic atrial fibrillation (AF) who had undergone first-time RFCA in Phramongkutklao Hospital between January 2009 and December 2018. The efficacy and safety of outcomes after 1 year of RFCA were collected, analyzed, and validated using descriptive data. Results: 61 patients underwent RFCA for the first time. 77.05% were male, with a mean age of 58.31 ± 10.83 years. Paroxysmal AF presented in 65.57%. 49.18% had hypertension, 9.84% had a history of ischemic stroke or transient ischemic attack, 6.56% had diabetes, 6.56% had coronary artery disease, and 4.92% had heart failure. 96.72% of RFCA procedures were performed under local anesthesia and conscious sedation. Pulmonary vein isolation was performed in all patients. Roofline, mitral isthmus line, and posterior wall isolation were created in 27.87%, 13.11%, and 3.28%, respectively. Additional complex fractionated atrial electrograms (CFAEs) were targeted in 19.67%. After 12 months, 45.45% remained in sinus rhythm, with only one patient experiencing a procedure-related complication with cardiac tamponade. Conclusion: The 1-year results of single-procedure RFCA for treating AF at our center, while not highly successful in our first decade, were comparable to other series. Notably, there was a relatively low rate of complications.

Abstract Background Obesity is one principle risk factor increasing the risk of noncommunicable diseases including diabetes, hypertension and atherosclerosis. In Thailand, a 2014 study reported obesity (BMI ≥25 kg/m2) in a Thai population aged ≥15 years was 37.5, 32.9 and 41.8% overall and among males and females, respectively. The study aimed to determine trends in the prevalence of obesity among adults residing in a Thai rural community between 2012 and 2018 and investigate the associations between obesity and behavioral factors. Methods Serial cross-sectional studies were conducted in 2012 and 2018 among adults in Na-Ngam rural community. In 2012 and 2018, all 635 and 627 individuals, respectively, were interviewed using structured questionnaires related to demographics, risk behaviors, comorbidities and arthrometric measurement. Spot urine was collected by participants and obesity was defined as BMI ≥25 kg/m2. The risk factors for obesity were analyzed in the 2018 survey. Results A total of 1262 adults in Na-Ngam rural community were included in the study. The prevalence of obesity was 33.9% in 2012 and 44.8% in 2018 (P 1 cup/week (AOR 1.44; 95%CI 1.02–2.04), higher number of chronic diseases (≥1 disease AOR 1.82; 95%CI 1.01–2.68, > 2 diseases AOR 2.15; 95%CI 1.32–3.50), and higher spot urine sodium level (AOR 1.002; 95%CI 0.99–1.01). Conclusion Our data emphasized that obesity constituted a serious problem among adults residing in a rural community. A trend in significant increase was found regarding the prevalence of obesity and average BMI in the rural community over 6 years. Effective public health interventions should be provided at the community level to reduce BMI. Moreover, modifiable risk factors for obesity should be attenuated to inhibit the progression of metabolic syndrome, noncommunicable diseases and their complications.

Artificial intelligence (AI) applications in oncology have been developed rapidly with reported successes in recent years. This work aims to evaluate the performance of deep convolutional neural network (CNN) algorithms for the classification and detection of oral potentially malignant disorders (OPMDs) and oral squamous cell carcinoma (OSCC) in oral photographic images. A dataset comprising 980 oral photographic images was divided into 365 images of OSCC, 315 images of OPMDs and 300 images of non-pathological images. Multiclass image classification models were created by using DenseNet-169, ResNet-101, SqueezeNet and Swin-S. Multiclass object detection models were fabricated by using faster R-CNN, YOLOv5, RetinaNet and CenterNet2. The AUC of multiclass image classification of the best CNN models, DenseNet-196, was 1.00 and 0.98 on OSCC and OPMDs, respectively. The AUC of the best multiclass CNN-base object detection models, Faster R-CNN, was 0.88 and 0.64 on OSCC and OPMDs, respectively. In comparison, DenseNet-196 yielded the best multiclass image classification performance with AUC of 1.00 and 0.98 on OSCC and OPMD, respectively. These values were inline with the performance of experts and superior to those of general practictioners (GPs). In conclusion, CNN-based models have potential for the identification of OSCC and OPMDs in oral photographic images and are expected to be a diagnostic tool to assist GPs for the early detection of oral cancer.

Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders which are etiologically heterogeneous. Chromosomal microarray is now recommended as the first-tier clinical diagnostic test for ASD. We performed chromosomal microarray in 16 Thai patients with ASD using an Illumina HumanCytoSNP-12 v2.1 array and found one case with uniparental disomy (UPD) of chromosome 15. Methylation-specific PCR showed abnormal methylation of the maternal SNRPN allele. Haplotype analysis revealed that the patient had received both chromosomes 15 from his father. These results were consistent with Angelman syndrome. However, his clinical features had no clinical significance for classic Angelman syndrome. He had first presented at the pediatric clinic with no speech, poor social interaction skills and repetitive behaviors consistent with ASD based on the DSM-IV criteria at 2 years of age and later confirmed by ADOS at 5 years of age. He was strikingly overweight but had no dysmorphic facies, seizures nor ataxia and was diagnosed as non-syndromic ASD, a diagnosis which was believed until at 10 years of age, his DNA was included for analysis in this current cohort study. Our findings suggest that ASD patients with unknown etiology should be considered for methylation-specific PCR testing for Angelman syndrome where chromosomal microarray is not available. In the study, we also review the clinical features of Angelman syndrome caused by UPD and the frequency of ASD in individuals with Angelman syndrome.

Background and Objectives: Autism spectrum disorder (ASD) is a neurodevelopmental disorder the cause of which is not fully known. Genetic factors are believed to play a major role in the etiology of ASD. However, genetic factors have been identified in only some cases, and other causes remain to be identified. This study aimed to identify potential associations between ASD and the 19-bp insertion/deletion polymorphism in the dopamine beta-hydroxylase (DBH) gene which plays a crucial role in the metabolism of neurotransmitters. Materials and Methods: The 19-bp insertion/deletion polymorphism upstream of the DBH gene was analyzed for associations in 177 ASD patients and 250 healthy controls. Family-based analysis was performed in family trios of each patient using the transmission disequilibrium test to investigate the potential contributions of this DBH polymorphism to ASD. Results: The frequency of the 19-bp insertion allele was significantly higher in the patient group compared to the controls (0.624 vs. 0.556, respectively; p = 0.046). The frequency of the insertion/insertion genotype was also higher in the patient group (0.378 vs. 0.288, respectively) but without statistical significance (p = 0.110). The family-based analysis showed an association between patient families and the insertion allele when only families of male participants were analyzed (73 vs. 48 events; OR 1.521; 95% CI 1.057–2.189; p = 0.023). Conclusions: This population-based analysis found an association between the 19-bp insertion allele of the DBH gene and ASD. No association at the genotype level was found. The family-based analysis found an association between the insertion allele and ASD when the analysis was performed on male participants only, suggesting a linkage between the DBH locus and ASD.

Apixaban can significantly prevent stroke events in patients with non-valvular atrial fibrillation (NVAF), as can be observed from the large, randomized, controlled trial conducted in the present study. However, the real-world evidence of bleeding events related to the apixaban plasma levels in Asian populations is limited. This study aimed to investigate the apixaban plasma levels and clinical outcomes among NVAF patients receiving apixaban, including determining the risk factors associated with bleeding during routine care. Seventy-one patients were included in the study. The median values were 112.79 (5–95th percentiles: 68.69–207.8) μg/L and 185.62 (5–95th percentiles: 124.06–384.34) μg/L for the apixaban trough (Ctrough) and apixaban peak plasma levels (Cpeak), respectively. Stroke and bleeding were found in 8 (11.27%) and 14 patients (19.72%), respectively. There was no statistical significance for Ctrough and Cpeak in the stroke and non-stroke groups, respectively. The median of Ctrough (139.15 μg/L) in patients with bleeding was higher than that in the non-bleeding group (108.14 μg/L), but there was no statistical significance. However, multivariate analyses showed that bleeding history (odds ratio (OR): 17.62; 95% confidence interval (CI): 3.54–176.64; and p-value = 0.002) and Ctrough (OR: 1.01; 95%: CI 1.00–1.03; and p-value = 0.038) were related to bleeding events. Almost all of the patients presented apixaban plasma levels within the expected range. Interestingly, bleeding events were associated with the troughs of the apixaban plasma levels and bleeding history.

Background. Little is currently known about the genetics of pilomatricoma. A number of studies have reported some evidence that this disease may have a genetic association with mutations of CTNNB1 gene or expression of the beta-catenin protein. In this study, we reviewed literatures involving 30 patients with various genetic syndromes that have been linked to pilomatricoma and found that somatic mutations of the CTNNB1 gene were reported in 67% of patients. Pilomatricoma has been reported in patients with chromosome 9 rearrangements, including 4 patients with tetrasomy 9p syndrome and one patient with partial trisomy 9. In addition to beta-catenin, the expression of bcl2 was observed in pilomatricoma. Objectives. To report an additional case of tetrasomy 9p syndrome with concurrent pilomatricoma and to examine whether abnormal protein expressions of the CTNNB1 and/or BCL2 genes were present. Methods. Cytogenetic analysis was carried out on peripheral blood, biopsied skin, and pilomatricoma tissue obtained from a patient with tetrasomy 9p syndrome. Immunohistochemical staining was performed on the pilomatricoma tissue, using beta-catenin and bcl2 monoclonal antibodies. Results. SNP microarray revealed nonmosaic gain of the short arm of chromosome 9. A nonmosaic isodicentric chromosome 9 was identified in the peripheral blood but this rearranged chromosome was detected in only 8.3% of the skin fibroblasts. Chromosomal abnormalities were not detected in the pilomatricoma nor expression of beta-catenin or bcl2 proteins in our patient. Conclusion. Pilomatricoma could be a new clinical feature associated with tetrasomy 9p syndrome; however, we found no evidence of tetrasomy 9p or abnormal beta-catenin or bcl2 proteins of the CTNNB1 and BCL2 genes in our pilomatricoma patient.

The case of a term Thai male infant with VACTERL anomalies including imperforate anus, atrial septal defect, tracheo-esophageal (TE) fistula, and horseshoe kidney with bilateral hydronephrosis whose chromosome study revealed an additional genomic segment of unknown origin on the short arm of chromosome 17 is reported. The karyotype is described as 46, XY, add (17) (p13), which has never been previously reported in VACTERL association.

Autism spectrum disorder (ASD) is a highly heterogeneous neurodevelopmental disorder with many contributing risk genes and loci. To date, several intellectual disability (ID) susceptibility genes have frequently been identified in ASD. Here, whole exome sequencing was carried out on a proband with ASD and identified compound heterozygous mutations of the TRAPPC9, which plays a role in the neuronal NF-κB signaling pathway. These mutations consisted of a novel frameshift mutation (c.2415_2416insC, p.His806Profs∗9) and a rare splice site mutation (c.3349+1G>A) that were segregated from an unaffected father and unaffected mother, respectively. These two heterozygous mutations were also identified in the patient’s older brother with ID. Quantitative RT-PCR revealed a significant reduction of TRAPPC9 transcript in two siblings. This study first describes compound heterozygous mutations of the TRAPPC9 gene in two siblings with ASD and ID, which is notable as only homozygous mutations or compound heterozygous for copy number variations and rare variant in this gene have been reported to date and associated with autosomal recessive intellectual disability. The two siblings carrying compound heterozygous TRAPPC9 mutations presented with ID, developmental delay, microcephaly and brain abnormalities similarly to the clinical features found in almost cases with homozygous TRAPPC9 mutation in previous studies. Together this study provides evidence that clinical manifestations of TRAPPC9 mutations as seen in our patients with ID and autism may be broader than previous case reports have indicated.

Background: Methotrexate (MTX) is used to treat psoriasis with various side effects and responsiveness. No predictive indicator of responsivenessor toxicityis available. Objective: Tostudytheassociationof the C677T and A1298C polymorphisms inthe methylenetetrahydrofolate reductase (MTHFR) gene withthe responsiveness andside effectsof MTX in psoriatic Thai patients. Methods: Thepolymorphisms wereidentifiedfrom86MTX-treatedpatientsinthreehospitalslocatedinsouthern Thailandusing allele-specificPCR. Thepatients were monitored for the effectiveness and toxicity of the MTX. Results: The C677T genotype frequencies for C/C, C/T, and T/T were 70.9, 26.8, and 2.3%, respectively, and those of the A1298C genotypes for A/A, A/C, and C/C were 57, 32.5, and 10.5%, respectively. Seventy-three patients (87.9%) respondedtoMTX. Thenon-respondershadhighercombinedfrequenciesof C/T and T/T of the C677T (50%) thanthe responders (24.7%) withnostatistical significance (p=0.131),buthada lower frequency of CC genotypeof the A1298C, althoughnot statisticallydifferent (p=0.691). Elevenpatients (12.8%) suffered toxicity. No association of thesepolymorphisms and MTX toxicity was found. Conclusion: The studydidnot show anassociationbetweenthese MTHFR polymorphisms with MTX response and toxicityin thesepatients.

Leiomyoma is an uncommon tumor of the kidney. The authors report a rare case of renal leiomyoma in a 39-year-old male patient who presented with a right flank mass. Laparoscopic nephrectomy was performed. The histopathology and immunohistochemistry confirm the diagnosis of renal leiomyoma. The review of literature in the clinicoradiopathological correlation was illustrated.

Autism spectrum disorder (ASD) has a strong genetic basis, although the genetics of autism is complex and it is unclear. Genetic testing such as microarray or sequencing was widely used to identify autism markers, but they are unsuccessful in several cases. The objective of this study is to identify causative variants of autism in two Thai families by using whole-exome sequencing technique. Whole-exome sequencing was performed with autism-affected children from two unrelated families. Each sample was sequenced on SOLiD 5500xl Genetic Analyzer system followed by combined bioinformatics pipeline including annotation and filtering process to identify candidate variants. Candidate variants were validated, and the segregation study with other family members was performed using Sanger sequencing. This study identified a possible causative variant for ASD, c.2951G>A, in the FGD6 gene. We demonstrated the potential for ASD genetic variants associated with ASD using whole-exome sequencing and a bioinformatics filtering procedure. These techniques could be useful in identifying possible causative ASD variants, especially in cases in which variants cannot be identified by other techniques.

Background. Clinical characteristics of fragile X syndrome (FXS) have been well documented in Caucasians, whereas in Asians they have rarely been described. Those that have been conducted used small cohorts that utilized DNA for diagnosis and larger cohorts that utilized cytogenetics for diagnosis. This study is to describe clinical characteristics of FXS in a large cohort of Thai patients diagnosed by standard molecular methods. Methods. Seventy-seven index cases and 46 affected relatives diagnosed with FXS were recruited into the study. To determine frequencies of common characteristics of FXS in prepubertal boys, we reviewed 56 unrelated cases aged between 18 and 146 months. To list rare medical problems, we reviewed 75 cases aged between 8 months to 71 years old, including 53 index cases and 22 affected relatives. In addition, we selected 16 clinical studies from various ethnicities for comparison with our findings. Results. In prepubertal boys with FXS, attention deficit and/or hyperactivity, prominent ears, macroorchidism, and elongated face were observed in 96%, 80%, 53%, and 48% of patients, respectively, whereas recognizable X-linked inheritance presented in 11% of patients. IQ scores ranged between 30 and 64 (mean ± SD = 43±9, n=25). We observed clinical findings that rarely or have never been reported, for example, medulloblastoma and tetralogy of Fallot. Conclusion. Attention deficit and/or hyperactivity and prominent ear are the most common behavioral and physical features in prepubertal boys with FXS, respectively. There are differences in frequencies of clinical characteristics observed between ethnicities; however, it is difficult to draw a solid conclusion due to different recruitment criteria and sample sizes within each study.

In Thailand, it is commonly considered that autogenous tooth transplantation can only be performed by oral surgeons. Though the author is an oral surgeon, a general dental practitioner who can carry out simple surgerycanalsoperformautogenoustoothtransplantation withgoodfunctional resultsandsignificantcostsavings over other options for carefully selected patients. This report presents a case of a 16 year-old Thai male patient who underwent autogenous tooth transplantation following the surgical technique recommended by Clokie CM, et al. The right mandibular third molar was transplanted to the right mandibular second molar showing successful results with radiographic follow-up for three years.

Currently, there are three published HLA-B*15:02 screening methods for prevention of carbamazepine-induced severe drug reactions in Asian populations. To analyze available HLA-B*15:02 screening methods, we compared four screening methods, including a multiplex PCR method, a nested PCR method, a LAMP method and our new in-house PCR-dot blot hybridization method. These methods were reviewed regarding their sensitivity, specificity, false positivity and technical considerations. Possible false positive (FP) alleles and genotypes were checked regarding the primers and probes designs, using the IMGT/HLA database. Expected FP rates in Asian populations were predicted using the Allele Frequencies Net Database. All methods had a sensitivity of more than 99.9%, although giving FP results to certain very rare alleles and genotypes. The multiplex PCR method was the only test that gave FP results to certain genotypes of HLA-B*15:13, the allele which is prevalent in Southeast Asian populations. In conclusion, the nested PCR, LAMP and our in-house methods could be applied in various Asian populations, but the multiplex PCR, or any test with FP to HLA-B*15:13, should be applied with caution in the Southeast Asian populations.

To provide maternal age-specific rates for trisomy 21 (T21) and common autosomal trisomies (including trisomies 21, 18 and 13) in fetuses. We retrospectively reviewed prenatal cytogenetic results obtained between 1990 and 2009 in Songklanagarind Hospital, a university teaching hospital, in southern Thailand. Maternal age-specific rates of T21 and common autosomal trisomies were established using different regression models, from which only the fittest models were used for the study. A total of 17,819 records were included in the statistical analysis. The fittest models for predicting rates of T21 and common autosomal trisomies were regression models with 2 parameters (Age and Age2). The rate of T21 ranged between 2.67 per 1,000 fetuses at the age of 34 and 71.06 per 1,000 at the age of 48. The rate of common autosomal trisomies ranged between 4.54 per 1,000 and 99.65 per 1,000 at the same ages. This report provides the first maternal age-specific rates for T21 and common autosomal trisomies fetuses in a Southeast Asian population and the largest case number of fetuses have ever been reported in Asians.

Fragile X syndrome (FXS) is the most common X-linked mental retardation disorder. Most patients are males. In Thailand, the incidence of FXS in boys with mental retardation or delayed development is approximately 7%. Typical clinical characteristics in affected males include variable degrees of mental retardation, narrow and long face, large and prominent ears, enlarged testicles, hyperactivity, attention deficit, and autistic-like behaviors. It is caused by Cytosine-Guanine-Guanine (CGG) repeat expansion on the promoter region of the fragile X mental retardation-1 (FMR1) gene. Normal individuals have CGG repeats ranging from 6 to 55. In carriers, so called premutation, the CGG repeats range from 56 to 200 and expand to be more than 200 repeats for affected patients (designated as full mutation). Women with premutation stage can transmit the FMR1 gene with CGG repeat instability to her children with potential full mutation stage. Prenatal diagnosis and genetic counseling should be given to the family with this genetic disorder.

In Thailand, it is commonly considered that autogenous tooth transplantation can only be performed by oral surgeons. Though the author is an oral surgeon, a general dental practitioner who can carry out simple surgery can also perform autogenous tooth transplantation with good functional results and significant cost savings over other options for carefully selected patients. This report presents a case of a 16 year-oldThai male patient who underwent autogenous tooth transplantation following the surgical technique recommended by Dr. Clokie et al. The right mandibular third molar was transplanted to the right mandibular second molar showing successful results with radiographic follow-up for three years. Keywords:Autogenoustooth transplantation, incomplete root formation

Background. The objective of this study was to investigate the association of the ABO blood group phenotype and allele frequency with CHIK fever. Methods. A rural community survey in Southern Thailand was conducted in August and September 2010. A total of 506 villagers were enrolled. Cases were defined as individuals having anti-CHIK IgG by hemagglutination ≥1 : 10. Results. There were 314 cases (62.1%) with CHIK seropositivity. Females were less likely to have positive anti-CHIK IgG with odds ratio (OR) (95% CI) of 0.63 (0.43, 0.93). All samples tested were Rh positive. Distribution of CHIK seropositivity versus seronegativity (P value) in A, B, AB, and O blood groups was 80 versus 46 (0.003), 80 versus 48 (0.005), 24 versus 20 (0.55), and 130 versus 78 (

Autistic disorders belong to a broad spectrum of clinically heterogeneous, pervasive development disorders, according to DSM-IV. Clinical features usually appear during the first three years of life. Children and adults with autism typically have difficulties in verbal and non-verbal communication and social interactions, and show repetitive patterns of behavior and interest. Although the exact etiology of autism is unknown, both genetics and environment are believed to play important roles. Diagnosis is based on clinical criteria and requires an experienced doctor. There is no cure for autism yet, but early intervention may improve some behavioral problems and subsequent IQ level.

Long COVID have posed a global health burden since the COVID-19 pandemic. This study aimed to evaluate the efficacy and safety of a combined plant extract (CPE) formulation, containing Citrus aurantifolia , Tiliacora triandra , Cannabis sativa , Alpinia galanga , and Piper nigrum , in participants with long COVID. A newly developed long COVID symptom questionnaire was used to evaluate outcomes. This randomized, double-blinded, placebo-controlled trial was conducted at the College of Pharmacy, Rangsit University, Thailand. Participants were randomly assigned to receive either a CPE supplement (4500 mg/day) or a placebo for 7 days. Primary outcomes were changes in C-reactive protein (CRP) levels and the total symptom score (ranging from 0 to 57 points). Secondary outcomes included full recovery/improvement of long COVID symptoms, health-related quality of life (HRQOL), and adverse events. A total of 66 participants were enrolled, with 33 in each group. The CPE supplement did not significantly reduce CRP levels, with a median difference (MD) (95 % CI) of −0.05 (−0.49, 0.39) mg/L compared to placebo. However, the CPE group showed a reduction in the total symptom score [MD (95 % CI) of −4.00 (−7.58, −0.42)], and a reduction in overall moderate to severe symptoms [RR (95 % CI) of 0.57 (0.35, 0.91)], moderate to severe fatigue [RR (95 % CI) of 0.25 (0.08, 0.81)], and moderate to severe post-exertional malaise (PEM) [RR (95 % CI) of 0.35 (0.16, 0.78)]. Changes in HRQOL scores did not differ significantly between groups. Adverse events were mostly mild and resolved by the end of the follow-up period. Our study suggests potential benefits of the CPE in alleviating moderate to severe long COVID symptoms, particularly fatigue and PEM, with an acceptable safety profile. However, larger-scale trials are necessary to validate these findings, and assessing the reliability of the long COVID symptom questionnaire is essential before its application in future studies. TCTR20230131004 (Registration date: 2023–01–31, Thai Clinical Trials Registry). • This randomized controlled trial evaluated the efficacy and safety of a combined plant extracts (CPE) formulation in alleviating long COVID symptoms. • CPE-treated participants showed significant total symptom score reduction in moderate to severe symptoms, with good safety profile. • CPE offers potential benefits in alleviating moderate to severe long COVID symptoms, especially fatigue and post-exertional malaise. [ABSTRACT FROM AUTHOR]

We present 2 cases of chromosomal abnormalities. The first patient was 47, XX, +del (18), (pter ®q12:). She had delayed development, bilateral club feet and minimal dysmorphic facies. The second case was prenatally diagnosed to paternal derived 46, XY, inv(Y) (p11.2q11.2), t(Y;15) (q12;p12). Physical examination revealed omphalocele, minimal dysmorphic facies and bilateral undescended testes. He had normal growth and development at two months. The karyotypes of both cases were verified by using Fluorescence In Situ Hybridization (FISH).

The aim of this study was to develop automated models for the identification and detection of mandibular fractures in panoramic radiographs using convolutional neural network (CNN) algorithms. A total of 1710 panoramic radiograph images from the years 2016 to 2020, including 855 images containing mandibular fractures, were obtained retrospectively from the regional trauma centre. CNN-based classification models, DenseNet-169 and ResNet-50, were fabricated to identify fractures in the radiographic images. The CNN-based object detection models Faster R-CNN and YOLOv5 were trained to automate the placement of the bounding boxes to detect fractures in the radiographic images. The performance of the models was evaluated on a hold-out test set and also by comparison with residents in oral and maxillofacial surgery and oral and maxillofacial surgeons (experts) on a 100-image subset. The binary classification performance of the models achieved promising results with an area under the receiver operating characteristics curve (AUC), sensitivity, and specificity of 100%. The detection performance of the models achieved an AUC of approximately 90%. When compared with the accuracy of clinician observers, the identification performance of the models outperformed even an expert-level classification. In conclusion, CNN-based models identified mandibular fractures above expert-level performance. It is expected that these models will be used as an aid to improve clinician performance, with aided resident performance approximating that of expert level. [ABSTRACT FROM AUTHOR]

Oral potentially malignant disorders (OPMDs) are a group of conditions that can transform into oral cancer. The purpose of this study was to evaluate convolutional neural network (CNN) algorithms to classify and detect OPMDs in oral photographs. In this study, 600 oral photograph images were collected retrospectively and grouped into 300 images of OPMDs and 300 images of normal oral mucosa. CNN-based classification models were created using DenseNet-121 and ResNet-50. The detection models were created using Faster R-CNN and YOLOv4. The image data were randomly selected and assigned as training, validating, and testing data. The testing data were evaluated to compare the performance of the CNN models with the diagnosis results produced by oral and maxillofacial surgeons. DenseNet-121 and ResNet-50 were found to produce high efficiency in diagnosis of OPMDs, with an area under the receiver operating characteristic curve (AUC) of 95%. Faster R-CNN yielded the highest detection performance, with an AUC of 74.34%. For the CNN-based classification model, the sensitivity and specificity were 100% and 90%, respectively. For the oral and maxillofacial surgeons, these values were 91.73% and 92.27%, respectively. In conclusion, the DenseNet-121, ResNet-50 and Faster R-CNN models have potential for the classification and detection of OPMDs in oral photographs. [ABSTRACT FROM AUTHOR]

Background: Cardiac resynchronization therapy (CRT) is one of the crucial treatments in patients with symptomatic heart failure reduced ejection fraction. This study aimed to report the efficacy and safety of CRT implantation in treating patients with heart failure. The responders and related outcomes were also analyzed. Methods: Medical records of all patients with CRT implantation, because of heart failure treatment indication, in Phramongkutklao Hospital between 2008 and 2019 were reviewed. Free from death and heart failure hospitalization were analyzed as composited efficacy outcomes with survival analysis. Follow‐up echocardiography was used to define a responder. The safety outcomes were reported using descriptive data. Cox‐proportional hazard model analysis was used for the responder as a predictor of outcomes. Results: A total of 152 patients underwent CRT implantation because of heart failure. 77.63% were male, the mean age of 65.9 ± 13.19 years, 59.85% were diagnosed with ischemic cardiomyopathy, mean LVEF of 22.69 ± 7.51%, and QRS duration of 147 ± 21 ms. Mean Follow‐up was 41 months. The composited efficacy outcomes were 91.7%, 54.8%, and 35.4% at 1, 5, and 10 years, respectively. CRT‐related complications were found in 12 patients (7.89%). 71.30% of patients who were responders had lower death or heart failure hospitalization when compared to non‐responders (HR: 0.43, 95% CI: 0.24–0.78). Conclusion: The efficacy and safety in CRT treating patients in our center were consistent with the previous randomized and observational studies. The responder rate remained the same as in previous trials but was a strong predictor for better outcomes. [ABSTRACT FROM AUTHOR]

Abstract: Purposes: To perform CDKL5 mutation screening in Thai children with cryptogenic infantile intractable epilepsy and to determine the clinical sensitivity of CDKL5 screening when different inclusion criteria were applied. Methods: Children with cryptogenic infantile intractable epilepsy were screened for CDKL5 mutation using multiplex ligation-dependent probe amplification and DNA sequencing. The clinical sensitivity was reviewed by combining the results of studies using similar inclusion screening criteria. Results: Thirty children (19 girls and 11 boys) with a median seizure onset of 7 months were screened. Almost a half had infantile spasms and one fifth had stereotypic hand movements. A novel c.2854C>T (p.R952X) was identified in an ambulatory girl who had severe mental retardation, multiple types of seizures without Rett-like features. Her mother had a mild intellectual disability, yet her grandmother and half sister were normal despite having the same genetic alteration (random X-inactivation patterns). The pathogenicity of p.R952X identified here was uncertain since healthy relatives and 6 female controls also harbor this alteration. The clinical sensitivity of CDKL5 mutation screening among females with Rett-like features and negative MECP2 screening was 7.8% while the clinical sensitivity among females having cryptogenic intractable seizures with an onset before the ages of 12, 6 and 3 months were 4.7, 11.6 and 14.3%, respectively. [Copyright &y& Elsevier]