Rett syndrome is a newly characterized developmental disorder that affect girls exclusively. These girls are born clinically normal, but their psychomotor development stagnates and deteriorates between the age of 6 months and 2 1/2 years. The full syndrome comprises; aquired microcephaly, severe dementia, autism, loss of purposeful use of the hands, characteristic hand-wringing stereotypies, jerky ataxia of the trunk, epilepsy with various types of fits, and in later years spastic and trophic changes of the lower limbs. There is no known cytogenetic, biochemical or molecular marker for the disorder; the diagnosis is based on clinical criteria. We report a case of Rett syndrome with a brief review of related literatues.
Ataxia ; Autistic Disorder ; Cytogenetics ; Dementia ; Diagnosis ; Epilepsy ; Female ; Hand ; Humans ; Lower Extremity ; Microcephaly ; Muscle Spasticity ; Rett Syndrome*

We studied the incidence and morphological variation of the metopic suture in Korean. Ninety-six adult Korean dried skulls and 141 cases of antero-posterior skull roentgenograms from age of 1 month to 80years old. We divided metopic suture into complete and incomplete type. Incidence of complete type was 8.3% in dried skulls. In roentgenograms the incidence was decreased according to aging, especially around 6-8 years old, and over 20 years old age group the incidence was 4.0%. The incidence of incomplete type was 32.3%.
Adult ; Aging ; Humans ; Incidence ; Skull ; Sutures*

No abstract available.
Mucocutaneous Lymph Node Syndrome* ; Thrombocytopenia*

Twenty-five neonates were observed for the relationship between phenobrbital loading dose, plasma concentrations and control of seizures. Nineteen neonates (76%) had seizures controlled by phenobarbital alone. Effective plasma concentration were 10.0~31.1microgram/ml. Although 14 neonates had seizures controlled by phenobarbital concentration below 20microgram/ml, neonate required level above 30microgram/ml. We found that continued benefit was obtained until phenobarbital plasma concentrations reached 40microgram/ml and there was no adverse effects on cardiorespiratory function. We recommend that plasma phenobarbital concentrations should equal or surpass 40microgram/ml before additional anticonvulsants are used for neonates with seizure.
Anticonvulsants ; Humans ; Infant, Newborn ; Phenobarbital* ; Plasma ; Seizures*

Clinical observations were made on 338 low birth weight infants, who were delivered at Pusan Wallace Memorial Baptist Hospital, during the 3 year periods from 1989 to 1991. The results were as follows; The incidence of LBWI was 5.6% and sex ratio was 1:1.09. Among them AGA was 62.7%. 2) Of all infants, 47.3% were in the birth weight range of 2251-2500 gm and 25.1% were in the gestational age group of 37-38 week. 3) LBWI were most prevalent among mothers under 20 years old and over 41 years old. 4) The Incidence of LBWI was higher in multiparity than primiparity and in multiple pregnancy than single pregnancy. 5) Vaginal delivery was 63.9% and c-section delivery was 36.1%. 6) The order or frequency of the etiology of LBWI was multiple pregnancy, premature rupture of membrane and toxemia. 7) The mortality rate of LBWI was 12.7% and mortality rate by weight-gestational age was lower in AGA group than SGA and LGA group. 8) A Higher mortality rate was noted in the group of lower birth weight infant, and in the group of more shortened gestational age. 9) 48.8% of death occured within ist day of birth. The common causes of death were respiratory distress syndrome, asphyxia, and apnea.
Adult ; Apnea ; Asphyxia ; Birth Weight ; Busan ; Cause of Death ; Female ; Gestational Age ; Humans ; Incidence ; Infant* ; Infant, Low Birth Weight* ; Infant, Newborn ; Membranes ; Mortality ; Mothers ; Parity ; Parturition ; Pregnancy ; Pregnancy, Multiple ; Protestantism ; Rupture ; Sex Ratio ; Toxemia ; Young Adult

No abstract available.
Anemia, Aplastic* ; Hepatitis*

The most common etiologic agents of neonatal osteomyelitis in the last decades were Staphylococcus aureus, Group B streptococcus, and E. coli, but Klebsiella pneumoniae as a cause of neonatal osteomyelitis appears to be rare. Klebsiella pneumoniae is one of the most important organisms associated with hospital acquired infections in the neonate and outbreaks with multiresistant strains have been reported from neonatal intensive care units around the world. These multiresistant Klebsiella pneumoniae have been shown to produce tranferable plasmid mediated beta-lactamases that are able to hydrolyze oxyimmino- beta-lactamas and these confer resistance to the third generation cephalosporin and named extended spectrum beta-lactamase producing Klebsiella pneumoniae. We experienced two cases of neonatal osteomyelitis due to extended spectrum lactamase producing Klebsiella pneumoniae in our neonatal intensive care unit during the same period. To our knowledge this represents the first documented neonatal osteomyelitise to extended spectrum beta-lactamase producing Klebsiellae pneumoniae in Korea.
beta-Lactamases* ; Disease Outbreaks ; Humans ; Infant, Newborn ; Intensive Care Units, Neonatal ; Intensive Care, Neonatal ; Klebsiella pneumoniae* ; Klebsiella* ; Korea ; Osteomyelitis* ; Plasmids ; Pneumonia ; Staphylococcus aureus ; Streptococcus

No abstract available.
46, XX Disorders of Sex Development* ; Adrenal Hyperplasia, Congenital* ; Female* ; Humans

Systemic lupus erythematosus (SLE) predominantly affects women of childbearing age, and the management of pregnant patients with SLE is challenging because pregnancy can aggravate SLE and vice versa. Furthermore, the drugs used to treat SLE can adversely affect the fetus. Accordingly, pregnancy should be planned in advance in women with lupus, and careful planning and treatment are required to care for women with lupus who become pregnant. This article reviews the pre-pregnancy evaluation and management of pregnant women with SLE with the aim of providing general guidelines to physicians regarding the monitoring and treatment of women with SLE that want to become pregnant.
Female ; Fetus ; Humans ; Lupus Erythematosus, Systemic ; Pregnancy ; Pregnant Women

The understanding of genetic factors contributed to the susceptibility or severity of rheumatoid arthritis (RA) might give new insights into the pathways involved in disease pathogenesis and lead to the identification of novel therapeutic targets. However, a lot of published case-control association studies could not demonstrate the conclusive results due to the lack of reproducibility, small sample size, poor study design, incorrect assumption, and ethnic diversity. Recently, several genome-wide scan using affected sibling pairs and following candidate gene approaches have been performed to unravel the complex association of rheumatoid arthritis with the human leukocyte antigen (HLA) gene region, non-HLA major histocompatibility region within chromosome 6, and the other chromosomes such as chromosome 1. This review summarizes the importance of genetic studies in RA, and the variable methods of genetic studies and their results.
Arthritis, Rheumatoid* ; Case-Control Studies ; Chromosomes, Human, Pair 1 ; Chromosomes, Human, Pair 6 ; Genetics ; Histocompatibility ; Humans ; Leukocytes ; Sample Size ; Siblings