PURPOSE: Neonatal surgical conditions affecting the gastrointestinal tract are varied, can affect any part of the intestinal tract, and frequently require urgent surgical intervention. Unfortunately, nonspecific and overlapping symptomatology exists among the conditions affecting the intra-aMominal intestinal tract and requires of the evaluating physician a thorough understanding of their pathophysiology. So we studied signs and symptoms, frequency and incidence, ages at diagnosis, and diagnostic method of the neonatal gastrointestinal obstructions. METHOD: We reviewed retrospectively the charts of patients, who had been diagnosed as gastrointestinal obstruction during the neonatal period, and had been admitted to Gyeongsang National University Hospital from Feb. 1988 to Feb. 1997. RESULT: Total 77 cases were enrolled in this study. There were 59 rnales (76.796) and female 18 cases (23.4%). The male to female ratio was 3.28: 1. Twenty-two cases of imperforate anus (28.6%), 18 cases of hypertrophic pyloric stenosis (23.4%), 15 cases of congenital megacolon (19.5%) were observed. Other diseases causing the neonatal gastrointastinal obstruction were annulus pancreas (7.8%), jejunal atresia (6.5%), duodenal atresia (1.3%), duodenal web (2.6%), ileal atresia (2.6%), midgut volvulus (2.6%), intussusception (1.3%), and trachoesophageal fistula (2.6%). The rnost common symptom was vomiting with 32 cases (41.6%), followed by abdominal distension with 31 cases (40.3%), absence of anus with 17 cases (22.1%), and delayed meconium passage with 9 cases (11.7%). Associated other anomalies were observed in 18 cases (23%). Imperforate anus was seen with the highest rate of associated anomalies. The most common associated anomaly was the cardiac anomaly. Colon study (26%), physical examination (24.7%), abdominal sonography (15.6%), upper GI series (11.7%), and simple abdomen (9.1%) were diagnostic in the neonatal gastrointestinal obstructions. Seventeen cases (22%) were died before or after the surgical intervention. CONCLUSION: Neonatal gastrointestinal obstructions were associated with the high mortality rate. Abdominal distension and vomiting were the specific symptoms of neonatal gastrointe- stinal obstructions. Extensive search for the associated anomalies are reqiured because of its high frequency in the patients of the neonatal gastrointestinal obstructions. Thorough physical examination, colon study, abdominal sonography, upper GI series, and simple abdomen were essential in the diagnosis of the neonatal intestinal obstructions.
Abdomen ; Anal Canal ; Anus, Imperforate ; Colon ; Diagnosis ; Female ; Fistula ; Gastrointestinal Tract ; Hirschsprung Disease ; Humans ; Incidence ; Infant, Newborn ; Intestinal Atresia ; Intestinal Obstruction ; Intestinal Volvulus ; Intussusception ; Male ; Meconium ; Mortality ; Pancreas ; Physical Examination ; Pyloric Stenosis, Hypertrophic ; Retrospective Studies ; Vomiting

PURPOSE: To evaluate the usefulness in diagnosing the gallbladder perforation MATERIALS AND METHODS: CT scans of surgically proved 11 cases of gallbladder perforation were retrospectively reviewed. CT findings analyzed were iuminal diameter of GB, GB wall thickness and configuration, presence or absence of fluid collection in the pericholecystic or intraperitoneal space, and observation of pericholecystic anatomic structures. All patients underwent cholecystectomy, and surgical findings were also compared. RESULTS: The GB was distended in 6 cases(55% with a range of 4.0-7.5cm, mean :5.2cm). GB wall was thickened in most cases(9/11,82%) with homogeneous(n=7) or inhomogeneous(n=2) enhancement. At the sites of perforation, focal defect or contour bulging was seen in the GB wall in 3 cases. in 2 cases with gangrene, GB wall showed loss of normal contour with mottled contrast enhancement. Pericholecystic or intraperitoneal fluid co11ection was noted in 9 cases(82%), especially in the region of perforation. In all cases, there was evidence of diffuse infiltration in the pericholecystic space, omenturn or mesentery. Other findings included cholecy-stoenteric fistula in 1 case, and intrahepatic or intraperitoneal abscess formation in 2 cases. CONCLUSION: CT is useful in correct diagnosis of gallbladder perforation.
Abscess ; Cholecystectomy ; Diagnosis ; Fistula ; Gallbladder* ; Gangrene ; Humans ; Mesentery ; Retrospective Studies ; Tomography, X-Ray Computed

Peutz-Jeghers syndrome(PJS) is a relatively rare autosomal-dominant disease characterized by the occurrence of extensive mucocutaneous hyperpigmentation and gastrointestinal polyps. PJS patients are considered to have a high prevalence of intussusception due to polyps. We report the radiological findings in two cases of intussusception due to polyps in patients with PJS, and review the literature.
Humans ; Hyperpigmentation ; Intussusception* ; Peutz-Jeghers Syndrome* ; Polyps ; Prevalence

Hypernatremia developing in nonhospitalized adults is predominantly a disease of the elderly and mentally handicapped patients, possibly revealing inadequate nursing care of these patients. It has long been claimed that the duration of hypernatremia and its rate of correction are correlated with improvement in patients' neurologic status. Since there are only a handful of cases with serum sodium levels greater than 200 mEq/L until recently, it is not clear at what rate plasma sodium concentration can be safely normalized in severe hypernatremic patients. We report a case of severe hypernatremia with survival. This patient underwent rapid correction of serum sodium concentration during the management of this metabolic derangement using isotonic solution.
Journal Article ; Female ; Human ; Hypernatremia/therapy* ; Hypernatremia/physiopathology ; Hypernatremia/blood ; Middle Age ; Sodium/blood* ; Treatment Outcome

BACKGROUND: Neurofibromatosis type 1 (NF1) is one of the most common inherited disorders and is characterized by abnormalities in multiple tissues derived from the neural crest. OBJECTIVES: We analyzed the presence of mutations of NF1 gene in unrelated 56 Korean NF-1 patients. METHODS: Mutations were detected by polymerase chain reaction, single strand conformational polymorphism analysis and direct DNA sequencing. RESULTS: We found five different kinds of mutations in the NF1 gene from 5 out of 56 unrelated Korean NF1 patients. Sequence analysis revealed a nucleotide substitution at codon 1276 of exon 22 (CGA to TGA, R1276X), 4 by insertion at codon 1270 of exon 22 (3809 ins TGGA), a base pair deletion at codon 1398 of exon 24 (4192 del G), 4 by deletion at codon 1638 of exon 28 (4914 del CTCT), and a base pair substitution at codon 1947 of exon 31 (CGA to TGA, R1947X). All of these mutations resulted in premature termination of the mutant alleles. CONCLUSION: Results showed that common consequences of NF1 mutations are introduction of a premature stop codon, and these mutant genes may encode truncated forms of neurofibromin.
Alleles ; Base Pairing ; Codon ; Codon, Nonsense ; Exons ; Genes, Neurofibromatosis 1* ; Humans ; Neural Crest ; Neurofibromatoses* ; Neurofibromatosis 1* ; Neurofibromin 1 ; Polymerase Chain Reaction ; Sequence Analysis ; Sequence Analysis, DNA

No abstract available.
Respiratory Distress Syndrome, Newborn*

No abstract available.
Humans ; Lymphocytes*

Valproate is a widely used antiepileptic drug with rarely occurring serious side effects. However, valproate may induce hyperammonemic encephalopathy. A 85-year-old woman was admitted with stuporous mental status. Brain MRI showed old cerebral infarction and EEG showed sharp waves in the right frontal region. Under the impression of postictal confusion, we used phenytoin and then she was improved. However, the intermittent vacant staring was seen, and valproate was administered additionally. On the 5th day after adding valproate, her mentality was deteriorated and intermittent triphasic waves appeared on EEG. Due to confused mentality and hyperactivities, we injected lorazepam and then semicomatous mentality was developed. Follow-up EEG showed nearly continuous triphasic waves and slightly elevated ammonia with normal liver function was shown. After stopping antiepileptic drugs, we used lactulose and flumazenil, and then she was fully recovered with normalized EEG. This is a rare case of valproate-induced hyperammonemic encephalopathy with triphasic waves.
Aged, 80 and over ; Ammonia ; Anticonvulsants ; Brain ; Cerebral Infarction ; Electroencephalography ; Female ; Flumazenil ; Follow-Up Studies ; Humans ; Lactulose ; Liver ; Lorazepam ; Magnetic Resonance Imaging ; Phenytoin ; Stupor ; Valproic Acid

BACKGROUND: In Korean traditional medicine, human beings are classified into 4 groups accordance with the characteristics of physical constitution, named; Taeum, Taeyang, Soum, and Soyang. Most of Korean traditional doctors believe that the back ground of pathophysiology is differ among each group in many diseases. HLA is the most polymorphic gene and related with human immune response. It has been used for determination of individual identification, genetic diversity and a study of disease association in different ethnic group. It has well known that the most human inflammatory disease which thought to have some autoimmune basis are in some way promoted by genes of the HLA region. The purpose of this study is to observe the distribution of HLA-DR genotypes in 4 types of physical constitution in Korean traditional medicine. METHODS: Three hundred and ten Korean subjects(Soyang : 58cases, Soum :142cases, Taeum : 92cases, Taeyang : 18cases) were enrolled for this study. Genomic DNAs extracted by phenol/chroloform were amplified with allele specific primers and determined by 2% agarose gel electrophoresis with ethidium bromide staining for analysis of HLA-DR polymorphism. RESULTS: The genotype frequency of HLA-DR in a total or 310 Koreans was DR1 ; 7.2%, DR 2; 10.5%, DR 3;1.7%, DR 4; 19.9%, DR 5; 11.9%, DR 6;19.9%, DR 7; 7.0%, DR 8; 10.6%, DR 9; 8.7%, DR10;1.9%. There was no significant diffrence of HLA-DR genotype distribution among four physical constitution groups classified by Korean traditional medicine. CONCLUSION: Our results suggest that the classification of physical constitution in Korean traditional medicine is not related to HLA-DR genotypes.
Alleles ; Classification ; Constitution and Bylaws* ; DNA ; Electrophoresis, Agar Gel ; Ethidium ; Ethnic Groups ; Genetic Variation ; Genotype ; HLA-DR Antigens* ; Humans ; Medicine, Korean Traditional*

Partial or complete loss of innervation of skeletal muscle leads to muscle weakness and atrophic changes, resulting in decreased muscle volume with fatty replacement. Rarely, enlargement of the affected muscle may occur, related to two processes: true hypertrophy and pseudohypertrophy. We report CT and MR findings of the pseudohypertrophy of calf muscles, especially the soleus and gastrocnemius muscles, in a patient with diabetic neuropathy that showed increased muscle volume with diffuse fatty replacement and the presence of scanty muscle fibers.
Diabetic Neuropathies* ; Humans ; Hypertrophy ; Muscle Weakness ; Muscle, Skeletal ; Muscles*