OBJECTIVES: This study investigated the associations of PVRL1 gene variants with non-syndromic cleft lip with or without cleft palate (NSCL/P) by evaluating transmission distortion and parent-of-origin (POO) effects in multiple ethnic populations. METHODS: We conducted allelic and genotypic transmission disequilibrium tests (TDT) on 10 single-nucleotide variants (SNVs) in PVRL1 using data from 142 Korean families with an affected child. POO effects were analyzed using the POO likelihood ratio test, comparing transmission rates of maternally and paternally inherited alleles. To assess generalizability and ethnic heterogeneity, we compared results from Korean families with data from the Center for Craniofacial and Dental Genetics, which included 2,226 individuals from 497 European and 245 Asian trios. RESULTS: TDT analysis identified significant over-transmission of the rs7940667 (G361V) C allele in Korean families (p=0.007), a finding replicated in both Asian (p=6.5×10-7) and European families (p=1.6×10-10). Eight SNVs showed strong TDT evidence in larger Asian and European datasets after multiple comparison corrections (p<0.0073). Of these, 4 SNVs (rs7940667, rs7103685, rs7129848, and rs4409845) showed particularly robust association (p<5×10-8). POO analysis revealed significant maternal over-transmission of the rs10790330-A allele in Korean families (p=0.044). This finding was replicated in European families (p=9.0×10-4). Additionally, 3 other SNVs, rs7129848 (p=0.001) and the linked SNVs rs3935406 and rs10892434 (p=0.025), exhibited maternal over-transmission in the validation datasets. CONCLUSIONS Our findings provide robust evidence supporting the associations of PVRL1 variants with NSCL/P susceptibility. Further research is necessary to explore the potential clinical applications of these findings.

OBJECTIVES: This study investigated the associations of PVRL1 gene variants with non-syndromic cleft lip with or without cleft palate (NSCL/P) by evaluating transmission distortion and parent-of-origin (POO) effects in multiple ethnic populations. METHODS: We conducted allelic and genotypic transmission disequilibrium tests (TDT) on 10 single-nucleotide variants (SNVs) in PVRL1 using data from 142 Korean families with an affected child. POO effects were analyzed using the POO likelihood ratio test, comparing transmission rates of maternally and paternally inherited alleles. To assess generalizability and ethnic heterogeneity, we compared results from Korean families with data from the Center for Craniofacial and Dental Genetics, which included 2,226 individuals from 497 European and 245 Asian trios. RESULTS: TDT analysis identified significant over-transmission of the rs7940667 (G361V) C allele in Korean families (p=0.007), a finding replicated in both Asian (p=6.5×10-7) and European families (p=1.6×10-10). Eight SNVs showed strong TDT evidence in larger Asian and European datasets after multiple comparison corrections (p<0.0073). Of these, 4 SNVs (rs7940667, rs7103685, rs7129848, and rs4409845) showed particularly robust association (p<5×10-8). POO analysis revealed significant maternal over-transmission of the rs10790330-A allele in Korean families (p=0.044). This finding was replicated in European families (p=9.0×10-4). Additionally, 3 other SNVs, rs7129848 (p=0.001) and the linked SNVs rs3935406 and rs10892434 (p=0.025), exhibited maternal over-transmission in the validation datasets. CONCLUSIONS Our findings provide robust evidence supporting the associations of PVRL1 variants with NSCL/P susceptibility. Further research is necessary to explore the potential clinical applications of these findings.

OBJECTIVES: This study investigated the associations of PVRL1 gene variants with non-syndromic cleft lip with or without cleft palate (NSCL/P) by evaluating transmission distortion and parent-of-origin (POO) effects in multiple ethnic populations. METHODS: We conducted allelic and genotypic transmission disequilibrium tests (TDT) on 10 single-nucleotide variants (SNVs) in PVRL1 using data from 142 Korean families with an affected child. POO effects were analyzed using the POO likelihood ratio test, comparing transmission rates of maternally and paternally inherited alleles. To assess generalizability and ethnic heterogeneity, we compared results from Korean families with data from the Center for Craniofacial and Dental Genetics, which included 2,226 individuals from 497 European and 245 Asian trios. RESULTS: TDT analysis identified significant over-transmission of the rs7940667 (G361V) C allele in Korean families (p=0.007), a finding replicated in both Asian (p=6.5×10-7) and European families (p=1.6×10-10). Eight SNVs showed strong TDT evidence in larger Asian and European datasets after multiple comparison corrections (p<0.0073). Of these, 4 SNVs (rs7940667, rs7103685, rs7129848, and rs4409845) showed particularly robust association (p<5×10-8). POO analysis revealed significant maternal over-transmission of the rs10790330-A allele in Korean families (p=0.044). This finding was replicated in European families (p=9.0×10-4). Additionally, 3 other SNVs, rs7129848 (p=0.001) and the linked SNVs rs3935406 and rs10892434 (p=0.025), exhibited maternal over-transmission in the validation datasets. CONCLUSIONS Our findings provide robust evidence supporting the associations of PVRL1 variants with NSCL/P susceptibility. Further research is necessary to explore the potential clinical applications of these findings.

OBJECTIVES: This study investigated the associations of PVRL1 gene variants with non-syndromic cleft lip with or without cleft palate (NSCL/P) by evaluating transmission distortion and parent-of-origin (POO) effects in multiple ethnic populations. METHODS: We conducted allelic and genotypic transmission disequilibrium tests (TDT) on 10 single-nucleotide variants (SNVs) in PVRL1 using data from 142 Korean families with an affected child. POO effects were analyzed using the POO likelihood ratio test, comparing transmission rates of maternally and paternally inherited alleles. To assess generalizability and ethnic heterogeneity, we compared results from Korean families with data from the Center for Craniofacial and Dental Genetics, which included 2,226 individuals from 497 European and 245 Asian trios. RESULTS: TDT analysis identified significant over-transmission of the rs7940667 (G361V) C allele in Korean families (p=0.007), a finding replicated in both Asian (p=6.5×10-7) and European families (p=1.6×10-10). Eight SNVs showed strong TDT evidence in larger Asian and European datasets after multiple comparison corrections (p<0.0073). Of these, 4 SNVs (rs7940667, rs7103685, rs7129848, and rs4409845) showed particularly robust association (p<5×10-8). POO analysis revealed significant maternal over-transmission of the rs10790330-A allele in Korean families (p=0.044). This finding was replicated in European families (p=9.0×10-4). Additionally, 3 other SNVs, rs7129848 (p=0.001) and the linked SNVs rs3935406 and rs10892434 (p=0.025), exhibited maternal over-transmission in the validation datasets. CONCLUSIONS Our findings provide robust evidence supporting the associations of PVRL1 variants with NSCL/P susceptibility. Further research is necessary to explore the potential clinical applications of these findings.

We report a two-generation Korean family in which 2 siblings have congenital cataract and phenotype i. This report is a first case in Korean people and shows the evidence suggesting the linkage of Ii blood group with a recessive form of congenital cataracts.
Cataract* ; Humans ; Phenotype* ; Siblings*

BACKGROUND: Fiberoptic bronchoscope guided intubation is an important method of difficult airway management. The use of specific airways has been devised to assist the fiberoptic intubation. The authours compared effectiveness of separated airway with fiberoptic bronchoscope guided intubation and the hemodynamic responses. METHODS: 104 adult patients of American Society of Anesthesiologists grading (ASA) I-II who scheduled for surgery under general anesthesia were randomly divided into the Laryngoscope group (L group, n = 30) or the Fiberoptic bronchoscope group (F group, n = 36) or the Fiberoptic bronchoscope with separated airway (MF group, n = 38). A Fiberoptic bronchoscope guided intubation and a fiberoptic bronchoscope with separated airway and a direct laryngoscope was performed after inducing anesthesia. Intubation time, Jaw thrust incidence, mean blood pressure and heart rate after anaesthesia induction, at intubation and every two minute for a further 7 min were recorded. RESULTS: The intubation time was significantly shorter in the MF group (58.3 +/- 13.7 sec) than F group (71.9 +/- 22.1 sec). Jaw thrust incidence was lower in the MF group (60.5%) than F group (100%). The changes of MAPs and HRs during the observation were not significantly different in three group. CONCLUSIONS: Fiberoptic intubation using separated airway reduced intubation time and the incidence of jaw thrust.
Adult ; Airway Management ; Anesthesia ; Anesthesia, General ; Blood Pressure ; Bronchoscopes ; Heart Rate ; Hemodynamics ; Humans ; Incidence ; Intubation ; Jaw ; Laryngoscopes

Tailgut cysts are rare congenital lesions. They are believed to develop from remnants of the embryonic hindgut. Malignancy in tailgut cyst is extremely unusual. We experienced a case of a carcinoid tumor arising within a tailgut cyst at the presacral space. A 40-year-old woman was admitted for acute anal pain. Digital rectal examination revealed a 2-cm-sized submucosal tumor in the posterior midline rectum 4 cm above the anal verge. On sigmoidoscopic examination, the overlying rectal mucosa seemed to be intact. We performed a transanal incisional biopsy. The pathological diagnosis of the tumor biopsy revealed a malignant neuroendocrine tumor. The patient underwent an abdominoperineal resection. The tumor proved to be mutilocular cysts with a solid component. The cysts were diagnosed as tailgut cysts that were lined by a variety of epithelial types, including inner columnar cells, outer cuboidal cells, and transitional cells. The solid component in the cysts was confirmed as a carcinoid tumor on microscopic examination. Six months after the operation, she was found to have liver and brain metastases.
Adult ; Biopsy ; Brain ; Carcinoid Tumor* ; Diagnosis ; Digital Rectal Examination ; Female ; Humans ; Liver ; Mucous Membrane ; Neoplasm Metastasis ; Neuroendocrine Tumors ; Rectum

BACKGROUND: Myocardial dysfunction after cardiopulmonary bypass (CPB) is a significant cause of morbidity and mortality after congenital cardiac surgery. The aim of this study was to evaluate myocardial function on sevoflurane anesthesia after CPB during ventricular septal defect repair. METHODS: Forty patients were randomly allocated into two groups: sevoflurane-fentanyl was used in group S, midazolam-fentanyl in group M. Myocardial performance index (MPI) and ejection fraction (EF) were measured by transesophageal echocardiography before incision and after operation. Serum cardiac Troponin-I (cTnI) levels were measured before incision, and at 0, 12, and 24 h after operation. RESULTS: MPI increased after operation in both groups (S: 0.35 +/- 0.06 vs. 0.43 +/- 0.05, M: 0.36 +/- 0.07 vs. 0.46 +/- 0.06 [P < 0.05]), but there was no significant difference between groups. EF decreased after operation in both groups (S: 65.1 +/- 5.5% vs. 62.7 +/- 3.9%, M: 64.9 +/- 5.3% vs. 61.4 +/- 4.4% ([P < 0.05]), but there was no significant difference between groups. cTnI was markedly elevated after operation, and decreased thereafter. There was no significant difference between groups. CONCLUSIONS: Both groups showed decreased myocardial function after CPB, but there were no difference between groups. Sevoflurane did not adversely affect intraoperative myocardial function compared to midazolam.
Anesthesia ; Cardiopulmonary Bypass ; Child* ; Echocardiography, Transesophageal ; Heart Septal Defects, Ventricular* ; Humans ; Midazolam ; Mortality ; Thoracic Surgery ; Troponin I

BACKGROUND: Sevoflurane is commonly used anesthetics for pediatric surgical patients. Emergence delirium is more frequent when recovering from sevoflurane anesthesia than other anesthetics. In this study, we evaluated the effect of remifentanil to reduce emergence delirium after sevoflurane anesthesia in pediatric patients. METHODS: Children (3-7 yrs) were randomly assigned to three groups: sevoflurane with normal saline in group N (0.06 ml/kg/ hr), sevoflurane with remifentanil (0.1microgram/kg/min) in group R, and sevoflurane with remifentanil (0.1microgram/kg/min) and remifentanil (0.05microgram/kg/min) till the recovery room in group RC. Time to extubation, Pediatric Anesthesia Emergence Delirium Scale (PAEDS), Objective Pain Scale (OPS), Modified Aldrete Score (MAS), and postoperative side effects in the recovery room were compared among three groups. RESULTS: Time to extubation (N; 9.3 +/- 3.5, R; 12.2 +/- 6.4, RC; 12.7 +/- 5.3 min) in R and RC group was prolonged compared with N group (P < 0.05). There were no differences among three groups in MAS. OPS has variable differences among the groups (P < 0.05). PAEDS was significantly reduced in RC group compare with R and N group (P < 0.05). CONCLUSIONS: Remifentanil did not reduce the incidence of emergence delirium after sevoflurane anesthesia in pediatric tonsillectomy. Emergence delirium after sevoflurane anesthesia was reduced by remifentanil infusion till the recovery room.
Anesthesia* ; Anesthetics ; Child ; Delirium* ; Humans ; Incidence ; Pediatrics ; Recovery Room ; Tonsillectomy

BACKGROUND: Priming significantly shortened the onset of neuromuscular blockade(NMB), but also results in a high incidence of side effects. This study was designed to determine the effect of infusion priming method on the side effects, intubation condition, and onset of NMB compared with divided priming method. METHOD: The effects of different priming method of vecuronium on onset time and endotracheal intubation condition were investigated. 40 patients were studied in two parts. In control part, 20 patients were allocated into two groups(n=10 in each group) receving 10, 20 g/kg vecuronium as a priming dose, followed by a intubating dose(0.1 mg/kg-priming dose) 3 min later; the other part, 20 patients were allocated into two groups(n=10 in each group) receving 0.2 mg/kg/hr vecuronium continuous intravenous infusion, followed by a intubating dose(0.1 mg/kg-total infusion dose) 3, 5 min later. Onset time is calculated by single twitch stimulation test from injection of the intubating dose to maximum depression of the single twitch. Intubatin condition was appreciated based on vocal cord reflex, coughing, and jaw relaxation and scored. RESULTS: The times to fade out on the single twitch of the intravenous infusion priming group were shorter than control priming group. There was no difference between control priming group and infusion priming group to evaluate the intubation conditions. Side effects in the continuous infusion group were lesser than control priming group. CONCLUSION: This results suggest that the use of continuous infusion method is one of the promising methods to shorten the neuromuscular blockade and to provide more comfort to the patients.
Cough ; Depression ; Humans ; Incidence ; Infusions, Intravenous* ; Intubation ; Intubation, Intratracheal* ; Jaw ; Neuromuscular Blockade ; Reflex ; Relaxation ; Vecuronium Bromide* ; Vocal Cords