Clinical characteristics of 336 infants referred for chromosomal study during neonatal period from Jan. 1985 to Dec. 1994 to the cytogenetic laboratory of St. Mary's Hospital, Catholic University Medical College were reviewed. Karyotypes were analysed from peripheral blood lymphocyte cultures and G-banding was carried out. A thorough survey of the clinical reasons for chromosomal analysis, prevalence of chromosomal abnormalities in each disease category, and the patterns of chromosomal aberrations were done. The results were as follows, 1) Down syndrome was the most common indication for chromosome analysis in the newborn period, consisting of 37.8 % of all cases referred. Other indications included skeletal anomaly, multi-organ anomalies, cleft lip/palate, ambiguous genitalia, odd looking face, gastrointestinal anomaly, central nervous system anomaly, and Turner syndrome. 2) Overall in 42.9 percent of cases referred, chromosomal abnormalities was found. 3) 1'he percentage of final diagnosis in suspected Down syndrome was 85.0 #96. Overall, of the non-Down syndrome cases, 16.7 96 was given a definitive diagnosis of chromosomal abnomality. In each disease category, 57.1 % of suspected Turner syndrome and 37.2 % of multi-organ anomalies had been proved having chromosomal abnormalities. The percentages of chromosomal aberrations in isolated odd looking face, ambiguous genitalia, and skeletal anomaly were relatively low, around 5 %. None of the newborns referred because of cleft lip/palate, congenital anomalies of gastrointestinal tract or central nervous system had abnormal karyotype. 4) 95.1 % of all cases diagnosed to have chromosomal abnormality had autosomal aberrations, the remainder 4.9 % had sex chromosomal aberrations. 5) Trisomy 21 was the most common numerical aberrations of autosomes, consisting of 87.5 % and trisomy 18, trisomy 13, and mosaicism was 7.1 %, 3.6 96 and 1.8 % of total. 6) 90.7 % of Down syndrome were due to trisomy 21, the rest being translocation (7.4 %) and mosaicism (1.9 %).
Abnormal Karyotype ; Central Nervous System ; Chromosome Aberrations ; Cytogenetics ; Diagnosis ; Disorders of Sex Development ; Down Syndrome ; Gastrointestinal Tract ; Humans ; Infant ; Infant, Newborn* ; Karyotype* ; Lymphocytes ; Mosaicism ; Prevalence ; Trisomy ; Turner Syndrome

BACKGROUND: Helicobacter pylori (H. pylori) infection has been known closely related with gastritis, duodenal ulcer and gastric cancer and is prevalent among Koreans. However, the infection route and the time are unclear, especially during perinatal period. The aim of this study is to investigate the relationship of H. pylori IgG and IgM antibody prevalences and titers between maternal, neonatal, and cord blood. METHODS: We collected 45 simultaneous maternal, neonatal, and cord bloods and 150 single cord bloods during delivery. The specific H. pylori IgG and IgM antibody levels were measured by enzyme-linked immunosorbent assay (ELISA) method. RESULTS: The H. pylori IgG antibody-positive rate for maternal, neonatal, and cord bloods were equal as 35.6% (16/45). The H. pylori IgG antibody levels of neonatal and cord bloods were 52.7% and 70.7% of maternal blood level. The H. pylori IgG antibody levels between maternal and cord bloods (r2 = 0.9725, p<0.05), maternal and neonatal bloods (r2 = 0.8569, p<0.05), and neonatal and cord bloods (r2 = 0.9437, p<0.05) were well correlated. Only one case of maternal blood was H. pylori IgM antibody positive and it's antibody level was 52.3 U/mL. CONCLUSIONS: In this study, we provided the sero-prevalence of H. pylori IgG and IgM antibodies and the relationship of antibody level of H. pylori IgG in maternal, neonatal and cord bloods. To elucidate the exact route and time of H. pylori infection, further studies including serial measurement of H. pylori IgG and IgM level in neonates will be needed.
Antibodies* ; Duodenal Ulcer ; Enzyme-Linked Immunosorbent Assay ; Fetal Blood* ; Gastritis ; Helicobacter pylori* ; Helicobacter* ; Humans ; Immunoglobulin G* ; Immunoglobulin M* ; Infant, Newborn ; Korea* ; Prevalence ; Seroepidemiologic Studies* ; Stomach Neoplasms

Pulmonary arterial hypertension is a critical manifestation of systemic sclerosis (SSc) and is a main cause of death. Several treatment modalities for SSc have been identified, with effects that improve quality of life and mortality rates. However, whether these drugs can also normalize pulmonary arterial pressure, remains unclear. Here, we report the case of a woman with diffuse SSc with pulmonary arterial hypertension, who had a functional status equivalent to the New York Heart Association class III. The patient was treated with inhaled iloprost. After six years of inhaled iloprost therapy, echocardiography showed that pulmonary arterial pressure normalized, accompanied by improvement in functional capacity. Inhaled iloprost might not only normalize pulmonary arterial pressure, but also improve the functional status of patients with SSc with pulmonary arterial hypertension.
Arterial Pressure ; Cause of Death ; Echocardiography ; Female ; Heart ; Humans ; Hypertension* ; Hypertension, Pulmonary ; Iloprost* ; Mortality ; Quality of Life ; Scleroderma, Systemic*

Miyoshi myopathy (MM) is a type of distal myopathy that is characterized by an early adult onset and a prominent involvement of the gastrocnemius muscles. Weakness usually appears between 15 and 30 years of age starting in the posterior compartment of the legs. Creatine kinase (CK) values are characteristically elevated to levels 10 to 100 fold above normal range. Here we report one patient who was diagnosed as MM. She developed a motor weakness in her early thirties. There was an early and predominant involvement of the gastrocnemius muscles. Creatine kinase activity was elevated 10 to 15 fold above normal range. Electromyography revealed fibrillations, positive sharp waves, and a myopathic pattern of motor unit potentials, particularly in the distal muscles of the lower limbs. Myopathic features without vacuoles were seen in the vastus lateralis muscle. This is the first case report of MM in Korea, which should be considered in the differential diagnosis of slowly progressive weakness of distal legs.
Adult ; Creatine Kinase ; Diagnosis, Differential ; Distal Myopathies* ; Electromyography ; Humans ; Korea ; Leg ; Lower Extremity ; Muscles ; Muscular Diseases ; Quadriceps Muscle ; Reference Values ; Vacuoles

Miyoshi myopathy (MM) is a type of distal myopathy that is characterized by an early adult onset and a prominent involvement of the gastrocnemius muscles. Weakness usually appears between 15 and 30 years of age starting in the posterior compartment of the legs. Creatine kinase (CK) values are characteristically elevated to levels 10 to 100 fold above normal range. Here we report one patient who was diagnosed as MM. She developed a motor weakness in her early thirties. There was an early and predominant involvement of the gastrocnemius muscles. Creatine kinase activity was elevated 10 to 15 fold above normal range. Electromyography revealed fibrillations, positive sharp waves, and a myopathic pattern of motor unit potentials, particularly in the distal muscles of the lower limbs. Myopathic features without vacuoles were seen in the vastus lateralis muscle. This is the first case report of MM in Korea, which should be considered in the differential diagnosis of slowly progressive weakness of distal legs.
Adult ; Creatine Kinase ; Diagnosis, Differential ; Distal Myopathies* ; Electromyography ; Humans ; Korea ; Leg ; Lower Extremity ; Muscles ; Muscular Diseases ; Quadriceps Muscle ; Reference Values ; Vacuoles

OBJECTIVE: The purpose of this study was to compare one-step 2 hour 75 gm oral glucose tolerance test (OGTT) proposed by the World Health Organization (WHO) with two-step 3 hour 100 gm OGTT of National Diabetes Data group (NDDG) criteria for determining gestational diabetes. METHODS: Data for 111 pregnant Korean women who were diagnosed of gestational diabetes either by 75 gm OGTT or 100 gm OGTT and 100 normal controls were reviewed and analyzed retrospectively. The effectiveness of the two tests was determined by comparing the frequency of diabetes-related pregnance outcomes such as macrosomia, cesarean delivery, and preterm birth. Chi-square, Fisher's Exact test, and T-tests were used for statistical analysis. RESULTS: Among 111 gestational diabetic women, 59 (53.2%) were diagnosed by WHO criteria of 75 gm OGTT and 52 (46.8%) were diagnosed by 100 gm OGTT of NDDG criteria. Frequency of macrosomia and cesarean section was higher in 75 gm test group than in 100 gm test group (12.3% vs 5.8% and 35.1% vs 21.2%, respectively), but the difference was statistically not significant. When compared to the control group, 75 gm test group reached statistical significance in having higher incidence of macrosomia (12.3% vs 3%, p<0.05) whereas 100gm test group did not. CONCLUSION: Efficacy of the diagnostic criteria of WHO was comparable to that of NDDG for diagnosing gestational diabetes. This suggests WHO's 75 gm OGTT to be an efficient diagnostic tool for gestational diabetes in Korean women.
Cesarean Section ; Diabetes, Gestational* ; Female ; Glucose Tolerance Test* ; Humans ; Incidence ; Pregnancy ; Premature Birth ; Retrospective Studies ; World Health Organization

OBJECTIVE: The purpose of this study was to compare one-step 2 hour 75 gm oral glucose tolerance test (OGTT) proposed by the World Health Organization (WHO) with two-step 3 hour 100 gm OGTT of National Diabetes Data group (NDDG) criteria for determining gestational diabetes. METHODS: Data for 111 pregnant Korean women who were diagnosed of gestational diabetes either by 75 gm OGTT or 100 gm OGTT and 100 normal controls were reviewed and analyzed retrospectively. The effectiveness of the two tests was determined by comparing the frequency of diabetes-related pregnance outcomes such as macrosomia, cesarean delivery, and preterm birth. Chi-square, Fisher's Exact test, and T-tests were used for statistical analysis. RESULTS: Among 111 gestational diabetic women, 59 (53.2%) were diagnosed by WHO criteria of 75 gm OGTT and 52 (46.8%) were diagnosed by 100 gm OGTT of NDDG criteria. Frequency of macrosomia and cesarean section was higher in 75 gm test group than in 100 gm test group (12.3% vs 5.8% and 35.1% vs 21.2%, respectively), but the difference was statistically not significant. When compared to the control group, 75 gm test group reached statistical significance in having higher incidence of macrosomia (12.3% vs 3%, p<0.05) whereas 100gm test group did not. CONCLUSION: Efficacy of the diagnostic criteria of WHO was comparable to that of NDDG for diagnosing gestational diabetes. This suggests WHO's 75 gm OGTT to be an efficient diagnostic tool for gestational diabetes in Korean women.
Cesarean Section ; Diabetes, Gestational* ; Female ; Glucose Tolerance Test* ; Humans ; Incidence ; Pregnancy ; Premature Birth ; Retrospective Studies ; World Health Organization

Movement disorders (chorea, athetosis, ballism) are a rare complication that develops during the course of bacterial meningitis although associations with tuberculous meningitis are established to some extent. Movement disorders are generally believed to reflect injury to the basal ganglia, thalamus, cerebellum and cerebral cortex. Ischemic infarctions of these areas have been proposed as the cause of dyskinesias in bacterial meningitis. We experienced a case of chorea which developed in the recovery phase of pnemococcal meningitis in a 37-month-old boy. The choreic movement was initially misinterpreted as a seizure, and anticonvulsants were administered. The movement continued during the alert state in spite of anticonvulsant therapy but subsided during sleep. EEG showed severely depressed background activitiy with no epileptiform discharge. When the movement was recognized as a choreic movement, anticonvulsants were withheld and haloperidol was administered orally. The abnormal movement gradually disappeared in 3 months. But like the two other previously reported cases of postmenigitic movement disorders, this patient shows severe impairment in cognitive and motor function in the 10 months of follow up. He can only recognize some close persons and can not control the trunk and extremities well. The movement disorder which develops in the recovery phase and lasts for a long period may be associated with poor neurologic prognosis.
Anticonvulsants ; Athetosis ; Basal Ganglia ; Cerebellum ; Cerebral Cortex ; Child, Preschool ; Chorea* ; Dyskinesias ; Electroencephalography ; Extremities ; Follow-Up Studies ; Haloperidol ; Humans ; Infarction ; Male ; Meningitis ; Meningitis, Bacterial ; Meningitis, Pneumococcal* ; Movement Disorders ; Prognosis ; Seizures ; Thalamus ; Tuberculosis, Meningeal

Posterior reversible encephalopathy syndrome (PRES) has been described in various clinical settings, including severe hypertension, eclampsia, lupus and immunosuppressive therapy. We report a 27 year-old female systemic lupus erythematosus patient who developed severe headache, seizure and hemiparesis during her lupus nephritis flare. Magnetic resonance image (MRI) showed multi-focal high signal intensity lesions in the parieto-occipital cortex bilaterally and in the subcortical white matter. Her condition improved with immunosuppressive treatments, antihypertensives and hemodialysis. The extent of her lesions decreased on follow-up MRI 2 months later. This case suggests that PRES can be treated with immunosuppressive drugs that do not increase blood pressure.
Antihypertensive Agents ; Blood Pressure ; Eclampsia ; Female ; Follow-Up Studies ; Headache ; Humans ; Hypertension ; Lupus Erythematosus, Systemic ; Lupus Nephritis ; Magnetic Resonance Spectroscopy ; Paresis ; Pregnancy ; Renal Dialysis ; Seizures

Motor neuron diseases (MNDs) refer to a heterogeneous group of progressive neurologic disorders caused by degeneration of motor neurons. The diseases affect either the upper motor neurons, lower motor neurons, or both, and are characterized by weakness, atrophy, fasciculation, spasticity, and respiratory failure. We report a case of a 61-year-old male patient with no past history of cardiovascular or pulmonary disease, who presented with only dyspnea, and no indication of any other symptom such as muscle weakness, atrophy, or bulbar dysfunction. Neuromuscular conduction study, including a study of the phrenic nerve, confirmed the diagnosis of MND. The patient greatly improved giving respiratory assistance at night, using a noninvasive ventilator. This case indicates that MNDs should be considered as differential diagnoses for patients showing acute respiratory failure of unknown causes. This report will aid in the prompt diagnosis and treatment of MNDs.
Atrophy ; Diagnosis ; Diagnosis, Differential ; Dyspnea ; Fasciculation ; Humans ; Lung Diseases ; Male ; Middle Aged ; Motor Neuron Disease* ; Motor Neurons* ; Muscle Spasticity ; Muscle Weakness ; Nervous System Diseases ; Phrenic Nerve ; Respiration, Artificial ; Respiratory Insufficiency* ; Ventilators, Mechanical