No abstract available.
Giant Lymph Node Hyperplasia* ; Neck*

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.

Duodenal intramural hematoma is mostly caused by blunt abdominal trauma. It is also less commonly reported as a complication of anticoagulation therapy or as a blood dyscrasia, and as a complication of diagnostic/ therapeutic endoscopy. The presentation of these patients is abdominal pain, vomiting, fever and hematochezia, and this is rarely accompanied with intestinal obstruction, severe pancreatitis and acute peritonitis as its complications. The diagnosis is made clear by performing abdominal ultrasonography and abdominal computed tomography. We reported here on one case of intramural duodenal hematoma and hemoperitoneum after performing endoscopic hemostasis in a chronic renal failure patient who was on maintenance hemodialysis.
Abdominal Pain ; Diagnosis ; Duodenum ; Endoscopy* ; Fever ; Gastrointestinal Hemorrhage ; Hematoma* ; Hemoperitoneum* ; Hemostasis, Endoscopic ; Humans ; Intestinal Obstruction ; Kidney Failure, Chronic* ; Pancreatitis ; Peritonitis ; Renal Dialysis ; Ultrasonography ; Vomiting

BACKGROUND AND OBJECTIVES: Globus pharyngeus is a sensation of foreign body in the throat. There are many studies evaluate relationships between globus pharyngeus and organic diseases such as laryngopharyngeal reflux, esophageal motility disorders as well as psychotic causes. But, Also many patients without etiologic causes complain of globus sensation. The authors performed a study that evaluate association between oral water intake and symptoms of globus sensation on the basis of a belief that pharyngeal dehydration due to lack of oral water intake causes globus sensation. MATERIALS AND METHODS: A survey using visual analogue scale to evaluate symptoms was performed with 73 patients with globus pharyngeus. RESULTS: Patients who drink water less than 500 mL per day (p=0.04) and less than five times per day (p=0.02) were improved after 6 months due to education and doctor's recommendation. CONCLUSION: Frequent and enough water intake should be recommended to resolve symptoms of globus sensation.
Dehydration ; Drinking* ; Education ; Esophageal Motility Disorders ; Foreign Bodies ; Humans ; Laryngopharyngeal Reflux ; Pharynx ; Sensation ; Water*

Solitary fibrous tumor is a rare spindle cell neoplasm of mesenchymal origin that occurs most commonly in the pleura. This tumor can be found in various extrathoracic sites that contain soft tissue. There are few reports of solitary fibrous tumors in the head & neck and only 5 cases of solitary fibrous tumors of the cheek have been reported. A 53-year-old man visited our department complaining of a firm mass in the left cheek. We suspected a schwannoma originating from the infraorbital nerve. The mass was removed via a gingivobuccal approach and was diagnosed as a solitary fibrous tumor.
Cheek* ; Head ; Humans ; Middle Aged ; Neck ; Neurilemmoma ; Pleura ; Solitary Fibrous Tumors*

PURPOSE: To investigate the correlations between Seoul Neuropsychological Screening Battery (SNSB) scores and the gray matter volumes (GMV) in patients with Alzheimer's disease (AD) and mild cognitive impairment (MCI) and cognitively normal (CN) elderly subjects with correcting the genotypes. MATERIALS AND METHODS: Total 75 subjects were enrolled with 25 subjects for each group. The apolipoprotein E (APOE) epsilon genotypes, SNSB scores, and the 3D T1-weighted images were obtained from all subjects. Correlations between SNSB scores and GMV were investigated with the multiple regression method for each subject group using both voxel-based and region-of-interest-based analyses with covariates of age, gender, and the genotype. RESULTS: In the AD group, Rey Complex Figure Test (RCFT) delayed recall scores were positively correlated with GMV. In the MCI group, Seoul Verbal Learning Test (SVLT) scores were positively correlated with GMV. In the CN group, GMV negatively correlated with Boston Naming Test (K-BNT) scores and Mini-Mental State Examimation (K-MMSE) scores, but positively correlated with RCFT scores. CONCLUSION: When we used covariates of age, gender, and the genotype, we found statistically significant correlations between some SNSB scores and GMV at some brain regions. It may be necessary to further investigate a longitudinal study to understand the correlation.
Aged ; Alzheimer Disease ; Apolipoproteins ; Brain ; Genotype* ; Humans ; Mass Screening* ; Methods ; Mild Cognitive Impairment ; Seoul* ; Verbal Learning

No abstract available.