Hojung Choi

Germline mutations of the STK11 gene in Korean Peutz-Jeghers syndrome patients.

Peutz–Jeghers syndrome (PJS) is an autosomal dominantly inherited disease characterized by hamartomatous gastrointestinal polyps and mucocutaneous pigmentation, with an increased risk for various neoplasms, including gastrointestinal cancer. Recently, the PJS gene encoding the serine/threonine kinase STK11 (also named LKB1) was mapped to chromosome 19p13.3, and germline mutations were identified in PJS patients. We screened a total of ten Korean PJS patients (nine sporadic cases and one familial case including two patients) to investigate the germline mutations of the STK11 gene. By polymerase chain reaction–single-strand conformation polymorphism and DNA sequencing analysis, three kinds of mis-sense mutation and a frame-shift mutation were identified: codon 232 (TCC to CCC) in exon 5, codon 256 (GAA to GCA) in exon 6, codon 324 (CCG to CTG) in exon 8, and a guanine insertion at codon 342 resulting in a premature stop codon in exon 8. These mis-sense variants were not detected in 100 control DNA samples. Furthermore, we found an intronic mutation at the dinucleotide sequence of a splice-acceptor site: a one base substitution from AG to CG in intron 1, which may cause aberrant splicing. Most reported germline mutations of the STK11 gene in PJS patients were frame-shift or non-sense mutations resulting in truncated proteins. Together, these findings indicate that germline mis-sense mutations of the STK11 gene are found in PJS patients in addition to truncating mutations. The effects of these mutations on protein function require further examination. In summary, we found germline mutations of the STK11 gene in five out of ten Korean PJS patients.

Clinical characteristics of Peutz-Jeghers syndrome in Korean polyposis patients

Abstract Peutz-Jeghers syndrome is an autosomal dominant inherited disorder characterized by hamartomatous polyps in the small bowel and mucocutaneous pigmentation. Patients with Peutz-Jeghers syndrome often present as surgical emergencies with complications of the polyps, such as intussusception, bowel obstruction, and bleeding. Recently an increased risk of malignancies has also been reported. This study was initiated to determine the clinical features of Peutz-Jeghers syndrome in Korean patients, with special attention to the development of malignancies. Thirty patients with Peutz-Jeghers syndrome were investigated; their median age was 23.5 years, and symptoms appeared at a median age of 12.5 years. Family history was positive in one-half of cases, and mucocutaneous pigmentation was observed in almost all patients (93%). The jejunoileum was the most frequent site of the polyps, and there were generally 10–100 polyps. Multiple laparotomies were performed in a substantial portion of the patients, due mainly to polyp-induced bowel obstruction, and the surgical interventions were begun at a relatively young age (average 21.4 years). Four cases of small-bowel cancer and one case of breast cancer were detected in probands, at a relatively young age (mean 36 years). Cancers of the small bowel, stomach, colon, breast and cervix were diagnosed in the first relatives of the probands. Close follow-up from an early age should thus be performed in patients with Peutz-Jeghers syndrome as they are at high risk of surgical emergency and development of malignancy.

Evaluation of glomerular filtration rate by use of dynamic computed tomography and Patlak analysis in clinically normal cats

OBJECTIVE To obtain quantitative variables of the abdominal aorta and both kidneys on the basis of time-attenuation curves (TACs) and to measure glomerular filtration rate (GFR) for each kidney and the global GFR in clinically normal cats by use of dynamic computed tomography (CT) and Patlak analysis. ANIMALS 9 healthy cats. PROCEDURES All the cats were anesthetized with propofol. Anesthesia was maintained by administration of isoflurane, and CT examination was performed in the anesthetized cats. The TACs and renal volume were measured by use of the baseline precontrast and single-slice dynamic scans. The CT-GFR of each kidney and the global CT-GFRs were calculated via Patlak plot analysis. RESULTS CT-GFR results from 7 cats were valid. Peak aortic enhancement was detected between 9.0 and 14.0 seconds after iohexol injection, and the initial peak time of renal parenchymal enhancement was 15 to 24 seconds after iohexol injection. Mean ± SD global GFR was 2.06 ± 0.62 mL/min/kg. Mean ± SD CT-GFR of the right and left kidneys was 0.97 ± 0.32 mL/min/kg and 1.05 ± 0.31 mL/min/kg, respectively. CONCLUSIONS AND CLINICAL RELEVANCE The CT-GFR method can be rapidly and conveniently performed in clinically normal cats. This combined structural-functional approach provided physiologic and morphological information on the kidneys of cats.

Evaluation of Mammary Gland Calcification in Dogs; Radiography and Computed Tomography

The mammary gland tumor (MGT) is the most common neoplasia in intact female dogs. Of these, 50% are malignant and metastasis to the other sites are often occurred. Therefore, it is very important for decision of treatment plan and prognosis to differentiate benign tumor from malignancies. Calcification of MGT is a very important imaging finding. The purpose of this study was to investigate the radiological and computed tomographic images of the MGT and the morphology and distribution of calcifications in the MGT using the Breast Imaging Reporting and Data System classification. A total of 42 dogs with MGT were included in this study. The dogs were divided into two groups into benign and malignant groups based upon histologic or cytologic results. The appearance of calcification in the tumor on radiographs and CT images was analyzed for the HU value of pre- and post-contrast injection, margin, surface, and shape of the tumor and the lymph node abnormalities. On radiographs, the positive predictive value of malignant and benign tumors was 72.72 and 85.71%, respectively. On CT examinations, the positive predictive value of malignant and benign tumors was the same value of 83.33%. The maximum diameter of the tumor and the presence of abnormal lymph nodes on CT images showed a strong correlation with malignancies. Therefore, it is thought that radiographs and CT provide useful information for evaluating MGT in dogs.

Magnetic Resonance Characteristics of Ischemic Brain Infarction in Three Dogs

This case study describes the magnetic resonance characteristics of brain infarction in three dogs. Locations of the brain infarcts were cerebella, thalamus, and multifocal. The infarcts were sharply demarcated from adjacent brain parenchyma, homogeneous, T1-hypointense, T2-hyperintense with/without contrast enhancement, and minimal or no mass effect. Diffusion-weighted imaging (DWI) sequences were available in a dog and the infarcts were hyperintense on DWI and were hypointense on the apparent diffusion coefficient map.

Echocardiographic Diagnosis of Mitral Valve Dysplasia Concurrent with Mitral Stenosis and Tricuspid Valve Dysplasia in a Dog

A 4-years-old, intact male Golden retriever dog was presented with abdominal distension and dyspnea. Physical examination revealed arrhythmia and cardiac murmur. Generalized cardiomegaly, pleural effusion and ascites were shown on thoracic and abdominal radiographs. Two-dimensional echocardiography revealed abnormal mitral and tricuspid valve motion, mitral and tricuspid regurgitation, left ventricular eccentric hypertrophy and left atrial dilation. Color-flow Doppler imaging revealed turbulent flow extending into the left ventricle during diastole from the mitral valve orifice, and into the left atrium during systole. Spectral Doppler recordings revealed highly increased early diastolic mitral valve inflow and prolonged pressure half-time of mitral inflow. Based on the echocardiographic examination, the diagnosis was made as the mitral valve dysplasia concurrent with mitral valve stenosis and tricuspid valve dysplasia.

Computed tomographic evaluation of cerebral ventricular size in clinically normal calves.

OBJECTIVE To evaluate lateral ventricular size in clinically normal calves by use of computed tomography and to examine the relationships between ventricular height (Vh), ventricular area (VA), and ventricular volume (VV). ANIMALS 14 Holstein calves. Procedures-14 calves underwent computed tomography of the head with transverse images acquired from the rostral aspect of the frontal lobe continuing caudally to the level of the foramen magnum. Hemispheric height, Vh, VA, and hemispheric area were measured on images obtained at the level of the interventricular foramen. Ventricular volume was calculated by multiplying the sum of VAs measured on each transverse image by the total slice thickness. The left Vh-to-right Vh ratio was calculated to determine the degree of ventricular asymmetry, which was categorized as normal (ie, symmetric) to minimally asymmetric, mildly asymmetric, or severely asymmetric. RESULTS Mean +/- SD values for Vh and the Vh-to-hemispheric height ratio were 4.96 +/- 1.56 mm and 7.47%, respectively. The mean VA was 114.29 +/- 47.68 mm(2), and the mean VV was 2,443.50 +/- 1,351.50 mm3. Normal to minimally asymmetric ventricles were identified in 13 calves, and mildly asymmetric ventricles were identified in 1 calf. Significant correlations were found between Vh and VA and between Vh and VV. CONCLUSIONS AND CLINICAL RELEVANCE These results establish reference values for ventricular size in clinically normal calves and suggest that Vh measurement may be a simple and useful technique for examining size of the cerebral ventricles in calves.