PURPOSE: This study was undertaken to determine the adequate cutoff value of the neonatal screening test to decrease recall and false-positive rates. METHODS: During the period of January 1999 through December in Asan Medical Center, newborn screening tests for phenylketonuria, congenital hypothyroidism, congenital adrenal hyperplasia, and galactosemia were performed in 3,775, 3,707, 3,783, and 3,806 newborns respectively using commercial ELISA kits. We reviewed and analyzed the recall rate at currently used cutoff values. RESULTS: 1)In neonatal screening test for congenital hypothyroidism, using a current cutoff value, 17 microIU/mL, the recall rate was 0.9% and using a 99.7% cutoff value, 21.3 microIU/mL, the predictive recall rate was 0.4%. There were no significant differences in the other reports that suggest adequate recall rate. 2)In neonatal screening test for phenylketonuria, using a current cutoff value, 3.6 mg/dL, the recall rate was 1.5% which was no significant difference compared with expected presumptive positive rate, 1.44%. 3)In neonatal screening test for congenital adrenal hyperplasia and galactosemia, the recall rate was high when using current cutoff value. But all results were within normal limits in reevaluation. CONCLUSION: The cutoff values of screening test which are currently recommended by manufacturers of commercial kits for congenital hypothyroidism, congenital adrenal hyperplasia and galactosemia, are needed to be reset to decrease the recall rate by false-positive results on the basis of data from an individual newborn screening laboratory.
Adrenal Hyperplasia, Congenital ; Chungcheongnam-do ; Congenital Hypothyroidism ; Enzyme-Linked Immunosorbent Assay ; Galactosemias ; Humans ; Infant, Newborn ; Mass Screening ; Neonatal Screening* ; Phenylketonurias

X-linked recessive bulbospinal muscular atrophy (Kennedy's syndrome) is a variant of the spinal muscular atrophies caused by mutation of androgen receptor gene on X-chromosome. A 69-year-old man had suffered from slowly progressive lower extremity weakness and gynecomastia. Muscle weakness was more severe in proximal muscles and showed symmetrical features. He had fascicular contraction on his face and tongue. All tendon reflexes were absent and pyramidal signs were not detected. Nerve conduction studies were normal except low amplitude of sensory nerve action potential in median nerve. Needle electromyography revealed widespread chronic denervation potentials in all sampling muscles of extremities, facial and tongue muscles. Histopathologic findings showed chronic denervation atrophy. DNA analysis showed abnormal expansion of CAG repeats in the androgen receptor gene and we confirmed this case as Kennedy's syndrome. If an adult patient has slowly progressive muscle weakness, bulbar symptoms and signs of male genital failure, DNA analysis should be taken to differentiate Kennedy syndrome from other motor neuron disease or myopathy.
Action Potentials ; Adult ; Aged ; Atrophy ; Bulbo-Spinal Atrophy, X-Linked ; Denervation ; DNA ; Electromyography ; Extremities ; Gynecomastia ; Humans ; Lower Extremity ; Male ; Median Nerve ; Motor Neuron Disease ; Muscle Weakness ; Muscles ; Muscular Atrophy* ; Muscular Diseases ; Needles ; Neural Conduction ; Receptors, Androgen ; Reflex, Stretch ; Tongue ; Trinucleotide Repeats

Rheumatic manifestations in non-Hodgkin's lymphoma (NHL) are common but actual arthritis as a presenting feature appears to be very rare. We experienced a case of NHL presenting as polyarthritis in a 24-year-old woman. Eight months ago she was admitted to the hospital due to polyarthritis and skin rash. She had pleural and pericardial effusion. Antinuclear antibody was positive and rheumatoid factor was negative. Joint X-ray showed periarticular osteopenia at both knees, wrists, hands and feet. Prednisolone, salsalate and anti-tuberculosis drugs were administered under the impression of either probable lupus or rheumatoid arthritis and pleural tuberculosis. After then pleuropericardial effusion and skin rash improved. But polyarthralgia persisted and she developed right cervical lymphadenopathy. On her second admission she was found to have a round mass in left lower lung field and multiple mediastinal lymph node enlargement. Cervical lymph node biopsy revealed non-Hodgkin's lymphoma. She received 8 cycles of systemic chemotherapy until 1996 July. NHL was remitted completely and polyarthralgia disappeared. We report a case of non-Hodgkin's lymphoma presenting as polyarthritis and literatures are reviewed.
Antibodies, Antinuclear ; Arthralgia ; Arthritis* ; Arthritis, Rheumatoid ; Biopsy ; Bone Diseases, Metabolic ; Drug Therapy ; Exanthema ; Female ; Foot ; Hand ; Humans ; Joints ; Knee ; Lung ; Lymph Nodes ; Lymphatic Diseases ; Lymphoma, Non-Hodgkin* ; Pericardial Effusion ; Prednisolone ; Rheumatoid Factor ; Tuberculosis, Pleural ; Wrist ; Young Adult

OBJECTIVE: Recently some reports suggested substance P and CGRP might be important factors for inflammation and hyperalgesia. This study was performed to see whether substance P or CGRP containing nerve fibers might be changed by mustard oil-induced inflammation. METHODS: After injection of mustard oil(5%) into uterine lumen, the uteri were removed and examined with immunohistochemical methods for substance P and CGRP. RESULTS: In the normal uterus, most of the substance P- or CGRP-immunoreactive nerve fibers were observed along the vascular structure and some in the myometrium, only few in the endometrium. Mustard oil did not changed this pattern of nerve fiber distribution but after 48 hrs, the amount of substance P or CGRP immunoreactive nerve fibers were greatly reduced compared with the normal uterus. It is not clear whether the decrease of substance P and CGRP immunoreactive fibers in the uterus was resulted from the depletion of the neuropeptides in the nerve fibers or the retraction of nerve fibers. CONCLUSIONS: These results suggest that the inflammation should cause the change of nerve fibers included in the nociception. This change may attribute the generation of inflammation and inflammatory hyperalgesia.
Animals ; Endometrium ; Female ; Hyperalgesia ; Inflammation* ; Mice ; Mustard Plant ; Myometrium ; Nerve Fibers ; Neuropeptides ; Nociception ; Rats* ; Substance P* ; Uterus*

Status epilepticus and seizure in childhood have various etiologies. Metabolic disorders may be an important cause of seizure and status epilepticus in childhood. Citrullinemia is a form of urea cycle defects and usually presents as an overwhelming neonatal illness. But in mild forms of citrullinemia, patients shows a gradual onset with frequent vomiting and developmental delay. We experienced a case of a 14-year-old boy presenting status epilepticus and hyperammonemia. The diagnosis of citrullinemia was made based on the elevated serum citrulline(about 20 times of the normal), and blood ammonia(over 500 micromol/L) as well as mutation of argininosuccinate synthetase gene. Although hemodialysis was done to remove elevated ammonia, he was expired due to hyperammonemic encephalopathy and brain death. So we suggest that metabolic disorders should be considered as one of the etiologies of status epilepticus in childhood.
Adolescent ; Ammonia ; Argininosuccinate Synthase ; Brain Death ; Citrullinemia* ; Diagnosis ; Humans ; Hyperammonemia ; Male ; Renal Dialysis ; Seizures ; Status Epilepticus* ; Urea ; Vomiting

Here we report two cases of isolated diffuse mesangial sclerosis (IDMS) with early onset end-stage renal failure. These female patients did not show abnormalities of the gonads or external genitalia. Direct sequencing of WT1 PCR products from genomic DNA identified WT1 mutations in exons 8 (366 Arg>His) and 9 (396 Asp>Tyr). These mutations have been reported previously in association with Denys-Drash syndrome (DDS) with early onset renal failure. Therefore we suggest that, at least in part, IDMS is a variant of DDS and that investigations for the WT1 mutations should be performed in IDMS patients. In cases with identified WT1 mutations, the same attention to tumor development should be required as in DDS patients, and karyotyping and serial abdominal ultrasonograms to evaluate the gonads and kidney are warranted.
Base Sequence ; DNA/chemistry/genetics ; DNA Mutational Analysis ; Fatal Outcome ; Female ; Glomerular Mesangium/*pathology ; Humans ; Infant ; Infant, Newborn ; *Mutation ; Nephrosclerosis/*genetics ; WT1 Proteins/*genetics

Fanconi-Bickel syndrome is a rare autosomal recessive disorder of the carbohydrate metabolism recently demonstrated to be caused by mutations in GLUT2, the gene for the glucose transporter protein 2 expressed in the liver, pancreatic beta islet-cells, intestine and kidney. Typical clinical and laboratory findings of Fanconi-Bickel syndrome are hepatomegaly secondary to glycogen accumulation, glucose and galactose intolerance, fasting hypoglycemia, a characteristic proximal tubular nephropathy and severe short stature. Several cases have been reported in other countries after Fanconi and Bickel in Switzerland first reported this syndrome in 1949. We experienced the first Korean case of Fanconi-Bickel syndrome in a neonate presented with hyperglycemia and hypergalactosemia that was initially diagnosed as transient neonatal diabetes mellitus and galactosemia. We also identified a novel mutation(K5X) in the GLUT2 gene.
Carbohydrate Metabolism ; Diabetes Mellitus* ; Fanconi Syndrome* ; Galactose ; Galactosemias* ; Glucose ; Glucose Transport Proteins, Facilitative ; Glycogen ; Hepatomegaly ; Humans ; Hyperglycemia ; Hypoglycemia ; Infant, Newborn ; Intestines ; Kidney ; Liver ; Switzerland

5p deletion syndrome, also known as Cri-du-Chat syndrome, is a chromosomal abnormality caused by a deletion in the short arm of chromosome 5. Clinical features of 5p deletion syndrome are difficult to identify prenatally by ultrasound examination, thus most cases of 5p deletion syndrome have been diagnosed postnatally. Here, we report eight cases of 5p deletion syndrome diagnosed prenatally, but were unable to find common prenatal ultrasound findings among these cases. However, we found that several cases of 5p deletion syndrome were confirmed prenatally when karyotyping was performed on the basis of abnormal findings in a prenatal ultrasound scan. Hence, it is necessary to carefully perform prenatal ultrasonography for detection of rarer chromosomal abnormalities as well as common aneuploidy.
Aneuploidy ; Arm ; Chromosome Aberrations ; Chromosomes, Human, Pair 5 ; Cri-du-Chat Syndrome* ; Karyotyping ; Prenatal Diagnosis* ; Ultrasonography ; Ultrasonography, Prenatal

OBJECTIVE: New antidepressant, nefazodone is classified as a serotonin -2 antagonist/reuptake inhibitor like old antidepressant, trazodone. Nefazodone, however, differs from trazodone in that it lacks anti-histaminergic properties and in that it has some norepinephrine reuptake inhibitory properties. These differences may account for the differences between the two drugs in the side effect profiles. This study was conducted to compare the acute effects of nefazodone on the psychomotor performance with those of trazodone. METHODS: The subjects were 12 healthy male volunteers aged between 20-40 years. A single, oral starting dose of nefazodone or trazodone was administered in a double-blind, randomized latin-square design with a 1-week interval between each drug switch. Psychomotor performances were assessed at 1 hour before and at 2 hours after administration of nefazodone 50 mg, nefazodone 100 mg or trazodone 50 mg. The measures of psychomotor performance included Vienna Determination Unit for complex choice reaction time, Critical Flicker Fusion Test, and Grooved Pegboard Test. RESULTS: In the Vienna Determination Unit, when 'within drug effect' (pre- vs. post-medication) was analyzed, nefazodone 100 mg decreased complex choice reaction time in both subtest 2 and subtest 3. Nefazodone 50 mg also decreased the reaction time in subtest 3 but not in subtest 2 which was more difficult and demanding task than subtest 3. On the other hand, no significant changes in the reaction time were observed with trazodone 50 mg in either subtest 2 or subtest 3. When 'between drug effect' was analyzed, however, the differences between drugs were not found to reach statistically significant level. No significant 'between drug effect' or 'within drug effect' was observed in Critical Flicker Fusion Test and Grooved Pegboard Test. CONCLUSION: Although the differences between nefazodone and trazodone did not reach statistically significant level, the results on the complex choice reaction time suggest that al least a single starting dose of nefazodone up to 100 mg does not impair psychomotor performances and it might have a less detrimental effect than trazodone on the psychomotor performance.
Administration, Oral* ; Flicker Fusion ; Hand ; Healthy Volunteers* ; Humans ; Male ; Norepinephrine ; Psychomotor Performance* ; Reaction Time ; Serotonin ; Trazodone* ; Volunteers

Spontaneous bladder perforation is a very rare event. Prompt diagnosis of this injury is very important, particularly with intraperitoneal perforation, because mortality increases if surgical repair is delayed. Previous studies have reported that plain cystography is the primary modality of imaging study rather than relatively insensitive computed tomography (CT) when bladder perforation is suspected. We report here a rare case of spontaneous intraperitoneal perforation of the bladder associated with urothelial carcinoma with divergent histologic differentiation, as diagnosed with CT cystography.
Diagnosis, Differential ; Rupture, Spontaneous ; Urinary Bladder ; Urinary Bladder Neoplasms