Two Cases of Pierre Robin Syndrome Managed with Tongue-Lip Adhesion and Tracheostomy

Pierre Robin syndrome presents in the neonatal period with upper airway obstruction and feeding difficulties. Infants with pronounced micrognathia may fail to thrive because of chronic airway obstruction, or experience severe respiratory distress and feeding difficulties. This is potentially fatal and surgical intervention in these cases is necessary. We experienced two newborns with pronounced micrognathia who were managed with tongue-lip adhesion and tracheostomy. Herein, we report these two cases with literature reviews.

rpoB Gene Analysis of helicobacter pylori

rpoB, which encodes the B subunit of RNA polymerase, is related to rifampin resistance of Mycobacterium tuberculosis and Escherichia coli. We determined the nucleotide sequences (346 bp) of rpoB gene from 25 Korean isolates of Helicobacter pylori. These nucleotide sequences were aligned and compared with H. pylori 26695 strain. No insertions or deletions were observed in all H. pylori strains. In the phylogenetic tree constructed by UPGMA method, 26 strains of H. pylori were separated into four clusters. Deduced amino acid sequences of amplified rpoB DNA comprised 115 amino acid residues. Twenty six H. pylori strains could be divided into 5 groups by the signature amino acid sequences. Two strains isolated from the same patient showed different nucleotide sequences. These results suggest that the sequences of rpoB are also highly divergent in H. pylori isolates and are useful for the epidemiologic study.

Survival Analysis of the Children with Down Syndrome / 대한주산의학회잡지

OBJECTIVE: To determine the life expectancy and causes of death of the children with Down syndrome(DS), longitudinal follow-up study was done for 29 cases of DS who were born at CHA hospital located in Seoul During the period from July 1991 to Dec. 1994. METHODS: 29 cases were divided into groups according to the presence of congenital heart disease (CHD) and leukemia. CHD group was subdivided into DS with complete AVSD(atrioventricular septal defect) and DS without complete AVSD. Survival curves were calculated by kaplan-Meier product limit method. Each group were compared by log rank test. The factors affecting mortality rate were analyzed by Cox's proportional hazard regressional model. RESULTS: There were no statistical differences in mortality rate between groups with CHD(35.3%) and without CHD(33.3%)(p=0.7373). Statistical difference was not observed between CHD subgroups with AVSD and with CHD other than AVSD. There were significant statistical difference in mortality rate between groups with leukemia and without leukemia(p=0.0001). CONCLUSION: The factor affecting mortality rate of DS was the presence of leukemia regardless of presence of CHD in our study cases with DS.

Pyomyositis of Pyriformis Muscle Caused by Vigorous Exercise and Acupuncture in a Healthy Boy

A case of pyomyositis of right pyriformis and iliacus muscle in a healthy 13 year old male patient is presented and discussed. Pyomyositis is a primary acute bacterial infection of large skeletal muscles, associated with abscess formation. Since pyomyositis has been reported mainly in tropical countries and is rare in temperate climates, the name 'tropical myositis' is often used. Outside the tropics, pyomyositis is often associated with immune compromised state, and vigorous muscle acivity may have a role in some cases of pyomyositis. In this case, thirteen year old healthy boy developed severe right buttock pain after vigorous gymnasium activity and was treated with acutpucture, then showed high fever and aggrevation of pain. This case was thought to be associated muscle injury due to vigorous gymnasium activity and transient bacteremia following cutaneous acupuncture. He was treated with ultrasono guided needle aspiration and parenteral antibiotics successfully.

A Case of Congenital Lipoid Adrenal Hyperplasia

Congenital lipoid adrenal hyperplasia is the most severe form of CAH, leading to impaired production of all steroid hormones including glucocorticoids, mineralocorticoid, and sex steroids. The affected individuals are all phenotypically female with a severe salt-losing syndrome that is fatal if steroid replacement is not begun immediately after birth. The lesion of this disorder has been suggested to be in the first step of steroidogenesis of conversion of cholesterol to pregnenolone by P450scc. Recently, molecular defect of this disease has been located in the transport of cholesterol into mitochondria due to defective regulatory protein called 'steroidogenic acute regulatory protein' while the enzyme P450scc itself is normal, differing from other types of congenital adrenal hyperplasia. We experienced 2 1/2 month old phenotypical girl who was admitted due to lethargic state and persistent vomiting with severe hyperkemia and hyponatremia. Blood levels of cortisol, aldosteron, and 17-OH progesteron were low and levels of ACTH, angiotensin, and plasma renin activity were high, urinary levels of 17-KS and 17-OHCH were low. The patient was found to have karyotype of 46, XY and has been being treated with predinisolone, fluorocortisol and sodium supplement in diet and doing well. The molecular study for P450scc gene and StAR gene of patient and family is in progress.

A Case of Partial Trisomy of 3p (Trisomy of 3p23)

Partial Trisomy of 3p (Trisomy of 3p2, dup (3) (p23-->pter)) is a characteristic syndrome of chromosomal duplication of distal part of 3p, but breakpoints seem to vary in location. This syndrome shows multiple congenital anomalies with severe mental retardation, characteristic craniofacial change and absence of other gross external abnormalities. The craniofacial dysmorphism includes frontal bossing and temporal indentation, square face, marked hypertelorism, thick and short nose, full lips and a large mouth with downturned corners. Congenital heart defect, most frequently ASD and VSD, are found in most patients. In the majority of patients, the 3p2 duplication is the unbalanced product of a parental autosomal translocation involving 3p2 and another chromosome. We report a case of female baby who has facial dysmorphism, ASD and hyptonia and was found to have 3p2 duplidation (46XX-9, +der(9)t (3:9)(p23:p24)) by chromosomal analysis. Also we found her father was a carrier of blanced translocation of 3p2 and chromosome 9p (46XY, t(3:9)(p23:p24)).

The Result of Intensive Care on the very Low Birth Weight Infants(1001~1500gm)

No abstract available.

Complication of Percutaneous Renal Biopsy in Children

No abstract available.