The Dandy-Wlaker syndrome is a developmental disoeder characterized by cystic dilatation of the fourth ventricle and agenesis or hypoplasia of the cerebellar vermis and is usually associated with hydrocephalus. This syndrome is also associated with intracranial malformations such as agenesis of corpus callosum, and extracranial malformations such as facial anormalies (cleft palate, cleft lip, and ocular anomalies), polycystic kidney, and cardiac anormalies. Reported associated ophthalmic anomalies are microphthalmos, coloboma, and congenital cataract.We experienced a case of infantile esotropia in abnormal insertion and direction of lateral rectus muscle as a variant of the Dandy-Walker syndrome accompanied by cleft palate and cleft lip in a 19-month-old male infant. Subsequent treatment of the 30delta esodeviation and left inferior oblique muscle overaction, including resection of the lateral rectus muscle in both eyes and the myectomy of the inferior oblique muscle in the left eye, yielded satisfactory results, so we report this case, with a review of the pertinent literature, as the first case of Dandy-Walker syndrome associated with esotropia with abnormal course of lateral rectus muscle in Korea.
Agenesis of Corpus Callosum ; Cleft Lip ; Cleft Palate ; Coloboma ; Dandy-Walker Syndrome* ; Dilatation ; Esotropia* ; Fourth Ventricle ; Humans ; Hydrocephalus ; Infant ; Korea ; Lip ; Male ; Microphthalmos ; Polycystic Kidney Diseases

BACKGROUND: The VITROS 3600 (Ortho Clinical Diagnostics, Johnson & Johnson, Buckinghamshire, UK), which uses the enhanced chemiluminescence immunoassay, has recently been introduced; however, it has not been evaluated for detection of HBsAg in Korea. We evaluated the ability of the VITROS 3600 for detection of HBsAg, compared with the ARCHITECT i2000 (Abbott Laboratories, Abbott Park, IL, USA), which is used widely in Korea to help in selection of an analyzer for detection of HBsAg. METHODS: A total of 800 samples were tested randomly for HBsAg and 150 samples with positive HBV DNA detected by real-time PCR were used in this study. Precision, agreement, and Pearson correlations between two analyzers were evaluated. RESULTS: The total standard deviations (SD) were 0.016 and 0.183 for the negative and positive HBsAg controls, respectively; the precision met the criteria suggested by the manufacturer. There were 100% agreements for the 800 random samples (positive 33, negative 767) and 150 samples with HBV DNA (positive 148, negative 2) between two analyzers. In addition, good correlation was observed between two analyzers for the 767 HBsAg negative samples (r=0.691, P=0.004), and 148 HBV DNA positive samples (r=0.763, P<0.001). CONCLUSION: The VITROS 3600 showed good precision and agreement. And, correlation between the VITROS 3600 and the ARCHITECT i2000 was excellent. Therefore, this result will be helpful in selection of an analyzer for detection of HBsAg.
DNA ; Enzyme-Linked Immunosorbent Assay ; Hepatitis B Surface Antigens ; Hepatitis B virus ; Immunoassay ; Korea ; Luminescence ; Real-Time Polymerase Chain Reaction

Accurate D antigen blood typing is needed owing to the clinical importance of the Rh blood group. We describe a female infant who was suspected to suffer from Rh incompatible hemolytic disease of the newborn, and who showed a strong positive direct antiglobin test (DAT) result and false red blood cell (RBC) agglutination in D typing. Using chloroquine dissociation of IgG, we confirmed that the antibodies coating her RBCs were of anti-D type. D typing with 0.8% RBC suspensions in saline using saline gel cards showed 2+ RBC agglutinations. After increasing the incubation time of dissociation by chloroquine for up to 4 hr, the dissociated RBCs began to show agglutination in both the tube technique (2+) and the gel card technique (4+) for D typing, although the DAT rest was still positive. Therefore, in order to prevent mistyping as a false-negative D blood group, whenever the D blood typing of a patient with a strong positive DAT rest does not show RBC agglutination, retesting of the D blood typing is recommended by using saline-suspended RBCs or dissociated RBCs.
Agglutination ; Antibodies ; Blood Grouping and Crossmatching ; Chloroquine ; Erythrocytes ; Female ; Humans ; Immunoglobulin G ; Infant ; Infant, Newborn* ; Phenotype* ; Suspensions

No abstract available.
Dermoscopy ; Hair Diseases ; Microscopy, Electron, Scanning ; Pruritus

Prader-Willi syndrome (PWS), which is considered the most common genetic form of obesity, results from the absence of imprinted genes in the paternally derived PWS critical region located on chromosome 15q11.2−13. Infants with PWS exhibit poor sucking, neonatal hypotonia, and delayed motor milestones. These patients begin to experience hyperphagia and obesity from 2 to 3 years of age. PWS is a multisystemic disorder, and its clinical manifestations include developmental delay/ intellectual disability, behavioral problems, dysmorphic facial features, short stature, scoliosis, and endocrine abnormalities such as hypogonadism, growth hormone deficiency, hypothyroidism, and central adrenal insufficiency. Although the underlying mechanism of hyperphagia is not completely understood, hypothalamic and endocrine dysregulation is believed to be responsible for the lack of satiety and abnormal food-seeking behaviors that lead to severe obesity. The management of PWS requires a multidisciplinary team approach. Early diagnosis and comprehensive early intervention are essential to prevent the development of obesity-related morbidities, including metabolic syndrome, diabetes mellitus, obstructive sleep apnea, respiratory failure, pulmonary hypertension, and cardiovascular complications. Although several clinical trials have been conducted on the pharmacologic treatment of obesity in PWS, no drugs have demonstrated a consistently beneficial effect to date. Nevertheless, ongoing research efforts should be directed toward understanding the mechanism of the unique obesity phenotype of PWS and developing pharmacological therapies.

PURPOSE:Transient desaturation in fullterms related to feeding may be ignored. But those who are presenting significant cyanosis during feeding without any underlying disease, esophagogastric or laryngopharyngeal reflux must be regarded. The goal of this study was to investigate the incidence of reflux diseases in those newborns using esophagography. METHODS:157 newborn infants showing cyanosis during feeding were collected among 705 neonates born after 37 weeks of festation from July 2003 to June 2005. Excluding infants with other underlying diseases, 40 newborns were studied for reflux diseases by esophagography. RESULTS:117 (74.5%) infants had underlying diseases among 157 presenting cyanosis. The other 40 (25.5%) cases had decrease in oxygen saturation during and after feeding, which were spontaneously restored after ceasation of feeding. The mean gestational age and weight of the 40 newborns (composed of 21 boys and 19 girls) were 38.9+/-1.42 wks and 3.3+/-0.59 kg. Imaging study was done at 9.5th day of life in average. The level of desaturation was 79.4+/-9.1%. From 31 (77.5%) patient who showed reflux in esophagograhy, 21 patients had laryngopharyngeal reflux, 16 cases showed major degree GERD, 8 of which had GERD minor degree. Omeprazole was prescribed to the patients with major degree of GERD and the others were educated only (feeding position & feeding skills) which lead to improvement of symptom. CONCLUSION:We concluded that the esophagography is a valuable tool in evaluation of full tern infants with desaturation during feeding.
Animals ; Charadriiformes ; Cyanosis ; Gastroesophageal Reflux ; Gestational Age ; Humans ; Incidence ; Infant* ; Infant, Newborn ; Laryngopharyngeal Reflux ; Omeprazole ; Oxygen*

Laryngeal leukoplakia is seen in a number of pathologic settings such as keratosis without atypia(KWOA), keratosis with atypia(KWA), squamous cell carcinoma in situ(CIS) and invasive squamous cell carcinoma, and it continues to be a confusing and controversial topic for both otolaryngologist and pathologist. This is largely due to the use of ambiguous and inconsistent terminology, the lack of unanimous agreement on the definition of these terms, failure of the clinician to obtain a representative biopsy, and the subjectivity of the pathologist interpreting the biopsy. To evaluate the applicability of the expression pattern of p53 and PCNA in borderline cases of histopathologic classification, we performed a histopathologic analysis of leukoplakia to includ clinical follow-up, correlation of disease progression and degree of atypia, and expression of p53 and PCNA according to the degree of atypia. Histologically, laryngeal leukoplakia included seven cases of KWOA, fourteen cases of KWA (mild-2, moderate-8, severe-4), three cases of CIS, and one case of invasive squamous cell carcinoma. Keratosis with atypia, a moderate degree or more, showed a strong tendency to progress to invasive carcinoma(p<0.05). The degree of p53 and PCNA expression correlated with the degree of atypia(p<0.05). p53-positive cases at the initial biopsy clearly tended to recur and develop into invasive carcinoma(p<0.01).
Biopsy

We report the case of a patient with gastric adenocarcinoma with multiple liver metastases. This patient showed complete remission for more than 68 months after S-1/cisplatin combination chemotherapy and radical total gastrectomy. The patient, a 63-year-old man, presented with dyspepsia and difficulty in swallowing. Endoscopic findings showed a huge ulcero-infiltrative mass at the lesser curvature of the mid-body, extending to the distal esophagus. Biopsy revealed a poorly differentiated tubular adenocarcinoma. An abdominal computed tomography scan demonstrated multiple hepatic metastases. S-1/cisplatin combination chemotherapy was initiated, and following completion of six cycles of chemotherapy, the gastric masses and hepatic metastatic lesions had disappeared on abdominal computed tomography. Radical total gastrectomy and D2 lymphadenectomy combined with splenectomy were performed. The patient underwent three cycles of S-1/cisplatin combination chemotherapy followed by tegafur-uracil therapy for 1 year. He remained in complete remission for more than 68 months after surgery.
Adenocarcinoma* ; Biopsy ; Cisplatin ; Deglutition ; Drug Therapy ; Drug Therapy, Combination ; Dyspepsia ; Esophagus ; Gastrectomy ; Humans ; Liver* ; Lymph Node Excision ; Middle Aged ; Neoplasm Metastasis* ; Splenectomy ; Stomach Neoplasms

No abstract available.
Fatty Liver* ; Ultrasonography*

BACKGROUND: The aim of this study was to identify causative factors for cerebral white matter changes on MRI and relationship between cerebral white matter changes and cognitive function. METHODS: The patients who were admitted to the Department of Neurology ward or visited to outpatient clinic at the Chungnam National University Hospital from September 1999 to July 2000 were selected. All patients underwent brain MRI with 1.5 T for determination of degree and distribution of cerebral white matter changes. The patients were evaluated their cognitive function with the Mini Mental State Examination (MMSE) and the Modified Mini-Mental State Examination (3MS), which has more extensive and detailed tool for fluency and memory domains of cognition compared with the MMSE. Statistical analyses were performed to identify whether there was difference in causative factors and cognitive status between patients with white matter change and patients without white matter changes. RESULTS: White matter changes were significantly more common in patients with hypertension and women. On correlation analyses, hypertension and aging were significantly related with cerebral white matter changes. General cognitive status in patients with white matter changes were worse than those of patients without white matter changes and of control group. Frontal lobe functions like fluency, attention, and visuo-constructive function were especially affected by white matter changes on the 3MS. CONCLUSIONS: Hypertension, female sex and aging may contribute to the development of cerebral white matter changes. Cerebral white matter changes may be responsible for the general cognitive decline. (J Korean Neurol Assoc 19(5):471~477, 2001)
Aging ; Ambulatory Care Facilities ; Brain ; Chungcheongnam-do ; Cognition ; Female ; Frontal Lobe ; Humans ; Hypertension ; Magnetic Resonance Imaging ; Memory ; Neurology