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

PURPOSE: A pancreaticoduodenectomy is the procedure of choice for managing a periampullary malignancy. This is a complex procedure accompanied with some morbidity. In order to improve postoperative clinical results, we tried to apply a binding pancreaticojejunostomy and Endo GIA stapler during pancreaticoduodenectomy. According to the clinical outcomes, compare this trial with a conventional procedure. METHODS: We evaluated retrospectively clinical results of 30 patients who had received pancreaticoduodenectomy from Jan. 2003 to Dec. 2004 in the Pusan National University Hospital. These cases were divided into two groups; Group I comprised of 16 patients receiving this procedure and Group II comprised of 14 patients receiving conventional procedure. RESULTS: There were some differences in the mean operation time and the amount of blood loss between two groups, but significant difference only in an aspect of blood loss (P=0.042). Postoperative complications were as these: Group I, pancreatic fistula was in 12.5%, intraabdominal bleeding in 6.2%, wound infection in 12.5%; Group II, pancreatic fistula was in 35.7%, intraabdominal bleeding in 21.4%, wound infection & intraabdominal abscess in 7.1%. In Group I, there was a lower morbidity rate than in Group II, but there was a significant difference in the development of a pancrea-tic fistula as a pancreatic parenchymal texture (P=0.021). CONCLUSION: Although there was a small number of cases, it appears that a pancreaticoduodenectomy with the application of a binding pancreaticojejunostomy and Endo GIA stapler can produce good results, also need to get more clinical results.
Abscess ; Busan ; Fistula ; Hemorrhage ; Humans ; Pancreatic Fistula ; Pancreaticoduodenectomy* ; Pancreaticojejunostomy* ; Postoperative Complications ; Retrospective Studies ; Wound Infection

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

The purpose of this study was to investigate the contribution of MSX1 gene to the risk of nonsyndromic cleft lip with or without cleft palate (NS-CL +/- P) in the Korean population. The samples consisted of 142 NS-CL +/- P families (9 with cleft lip, 26 with cleft lip and alveolus, and 107 with cleft lip and palate; 76 trios and 66 dyads). Three single nucleotide polymorphisms (SNPs: rs3821949, rs12532, and rs4464513) were tested for association with NS-CL +/- P case-parent trios using transmission disequilibrium test (TDT) and conditional logistic regression models (CLRMs). Minor allele frequency, heterozygosity, chi2 test for Hardy-Weinberg equilibrium, and pairwise linkage disequilibrium (LD) at each SNP were computed. The family- and haplotype-based association test programs were used to perform allelic and genotypic TDTs for individual SNPs and to fabricate sliding windows of haplotypes. Genotypic odds ratios (GORs) were obtained from CLRMs using R software. Although the family-based TDT indicated a meaningful association for rs3821949 (P = 0.028), the haplotype analysis did not reveal any significant association with rs3821949, rs12532, or rs4464513. The A allele at rs3821949 had a significant increased risk of NS-CL +/- P (GOR, 1.64; 95% confidence interval,1.03-2.63; P = 0.038, additive model). A positive association is suggested between MSX1 rs3821949 and NS-CL +/- P in the Korean population.
Alleles ; Asian Continental Ancestry Group/*genetics ; Cleft Lip/*genetics ; Cleft Palate/*genetics ; Female ; Gene Frequency ; Genotype ; Haplotypes ; Humans ; Linkage Disequilibrium ; Logistic Models ; MSX1 Transcription Factor/*genetics ; Male ; Odds Ratio ; *Polymorphism, Single Nucleotide ; Republic of Korea ; Risk Factors ; Software

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