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: Arginine vasopressin has been used by prophylactic treatment of vasodilatory shock during coronary artery bypass graft (CABG). Vasopressin may be a cause of spasm in graft artery during CABG. We evaluated the effect of propofol on vasopressin-induced contraction in human gastroepiploic artery (GEA). METHODS: Human GEA were obtained from 35 patients (43-74 yr), undergoing subtotal gastrectomy. Vasopressin-induced a concentration contractions (10(-9) to 10(-6) M) were measured after exposed to without propofol, propofol 10(-5), 10(-4), 10(-3) M. After endothelium denuding vasopressin-induced a concentration contractions were measured with or without propofol 10(-3) M in calcium free solution. In the denuded vascular rings, with or without pretreatment of glibenclamide (10(-5) M), nicorandil (10(-5) M), or diltiazem (10(-5) M) were exposed to with or without propofol 10(-3) M, and vasopressin-induced concentration contractions were measured. RESULTS: Vasopressin-induced concentration contraction on human GEA was independent of functional endothelium. Propofol (10(-4), 10(-3) M) attenuated the vasopressin-induced contraction in the human GEA. Diltiazem attenuated the vasopressin-induced contraction in the human GEA. ATP-sensitive potassium channel does not affect the inhibition effect of propofol on vasopressin-induced contraction CONCLUSIONS: Usual anesthetic dose of propofol does not inhibit vasopressin-induced contraction on human GEA. High dose (>10(-4) M) propofol attenuated vasopresssi-induced contraction on GEA.
Arginine ; Arginine Vasopressin ; Arteries ; Calcium ; Contracts ; Coronary Artery Bypass ; Diltiazem ; Endothelium ; Gastrectomy ; Gastroepiploic Artery ; Glyburide ; Humans ; Nicorandil ; Potassium Channels ; Propofol ; Shock ; Spasm ; Transplants ; Vasopressins

In the past 10 years, modern technology has made deep seated obscure lesions visible. With development of computer technology and various stereotaxic techniques, many new procedures, refinement of old procedures, and development of new applications are possible. The authors are intended to provide a detailed description of our experience with the Brown-Roberts-Wells (BRW) stereotactic system in the evaluation and management of 90 patients with intracranial lesions, and to provide cases presentation of various inaccessible intracranial lesions.
Humans ; Stereotaxic Techniques

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