Rehospitalization for Respiratory Illness in Very Low Birth Weight Infants during the First Year of Life / 소아알레르기및호흡기학회지

PURPOSE: The aims of this study were to investigate the incidence of rehospitalization for very low birth weight (VLBW) infants due to respiratory illness during the first year of life, and to examine the association between rehospitalization with respiratory distress syndrome (RDS) and duration of mechanical ventilation. METHODS: Twenty-three VLBW infants admitted to neonatal intensive care unit (NICU) at Dae-Dong Hospital from January 1996 to December 2002 were studied. Twenty-three of full-term infants born from January 2001 to December 2002 at Dae-Dong Hospital were studied as control group. Parental questionnaire were collected and hospital records of VLBW infants and control group were reviewed retrospectively. RESULTS: The rate of rehospitalization for respiratory illness in VLBW infants (16/23, 69%) was greater than that of term infants (6/23, 26%) (P< 0.05). Ventilated group with RDS (14/ 19, 73%) in VLBW infants had more rehospitalization compared to non-ventilated group (2/4, 50%) (P< 0.05). Those with ventilator care longer than 7 days (7/7, 100%) had more rehospitalization than those with ventilator care less than seven days (7/12, 58%) (P< 0.05). Fifty nine percent of rehospitalization occurred from December to March. Sixty five percent of rehospitalized infants required admissions between 5 and 8 months after NICU discharge. CONCLUSION: VLBW infants are more likely to have rehospitalization with respiratory illness during first year, especially VLBW infants with RDS and prolonged care of mechanical ventilation. It is important to prevent these susceptible infants from respiratory infections and to follow-up them periodically because VLBW infants tend to show decreased pulmonary function subsequently.

A Case of Ullrich's Disease / 대한소아신경학회지

Ullrich's disease is a congenital muscular dystrophy clinically characterized by generalized muscle weakness, multiple contractures of the proximal joints, and hyperextensibility of the distal joints. All the patients develop rigidity of spine, often assoicated with scoliosis, failure to thrive, and early and severe respiratory involvement, irrespective of their levels of motor function. Intellectual development is normal. The biopsied muscles show dystrophies including remarkable variation in the fiber size, notably proliferated endomysial connective tissues, and a lot of degenerated and regenerated fibers. The expression of merosin and dytrophin is normal. Recent studies have demonstrated that collagen VI is deficient in the muscles of the patients with Ullrich's disease, and some result from recessive mutations of the collagen VIalpha 2 gene(COL6A2). And a marked reduction of fibronectin receptors in the extracellular matrix of skin and cultured fibroblasts of these patients is also reported. These results suggest that collagen VI deficiency may lead to the reduction of fibronectin receptors and that any abnormalities of cell adhesion may be involved in the pathogenesis of the disease. A case of Ullrich's disease has not been reported yet in Korea. So, we describe a male patient with Ullrich's disease with a brief review of the literature.

A Case of Familial Hemiplegic Migraine / 대한소아신경학회지

Familial hemiplegic migraine(FHM) is an autosomal dominant subtype of migraine with aura, characterized by the occurrence of hemiplegia during the aura. Two subforms of FHM families exist; pure FHM in 80% and FHM families with cerebellar symptoms in 20%. Half of the known FHM families show genetic linkage to chromosome 19p13, and in these families FHM is caused by missense mutations in a neuronal P/Q type calcium channel alpha-1 subunit gene(CACNA1A gene). Linkages to 1q31 and 1q21-23 have also been established. Other families are linked neither to chromosome 19 nor 1. Clinical variabilities are partially associated with the various types of CACNA1A gene mutations. FHM is distinguished from more frequent migraine types by a clear, dominant inheritance pattern and the relative absense of other headache types. Further investigation of FHM will help to clarify the genetics of more common migraine. We describe a male patient with FHM with a brief review of the literature.

Mutations of CDKN2 (MTS1/p16I(NK4A)) and MTS2/p15(INK4B) genes in human stomach, hepatocellular, and cholangio-carcinomas

The CDKN2 (MTS1/p16(INK4A)) and MTS2/p15(INK4B) genes, encoding cyclin dependent kinase inhibitors, were found to be homozygously deleted at high frequency in cell lines from many different types of cancer and some primary cancers. To determine the frequency of CDKN2 and MTS2 mutations in human stomach, liver, and cholangio-cancers, molecular analyses of CDKN2 and MTS2 were performed on 4 stomach cancer cell lines, 14 primary stomach adenocarcinomas, 11 hepatocellular carcinomas, and 5 cholangiocarcinomas. Two (50%) of the four stomach cancer cell lines (SNU1, SNU5, SNU16 and Kato III) had mutations of the CDKN2 and MTS2 gene: SNU16, a homozygous deletion; SNU5, a nonsense mutation, CGA to TGA (Arg to stop) at codon 72 of the CDKN2 gene. No mutations were observed in the 14 primary stomach cancer tissues. In contrast to the mutations of CDKN2 and MTS2, Northern blot analysis showed that expression of CDKN2 was absent or decreased in all the remaining four stomach cancer cell lines and 11: of the 14 (79%) primary stomach adenocarcinomas. Five of the 11 (45%) hepatocellular carcinomas and one of the 5 (20%) cholangiocarcinomas have possible mutations in CDKN2 exon 2 and MTS2. One of hepatocellular carcinoma was expressed mobility shift on PCR-SSCP analysis and a missense mutation, GAC to GAA (Asp to Glu) at codon 105 of CDKN2 gene. These results suggest that mutations or inactivation of the CDKN2 gene may be a critical genetic change in the formation of stomach, hepatocellular, and cholangiocarcinomas.

Surgical Treatment of Upper and Lower Eyelid Retraction

A combined technique for lid retraction, that includes recession of retractors and Mullerectomy with or without spacers was presented, Twenty two procedures on eleven patients were reviewed, Of 22 procedures, 14 were for upper eyelid retraction and 8 for lower eyelid retration. Preserved sclera as a spacer was used on 5 upper eyelids and 6 lower eyelids in selected cases, Eight patients with lid retraction had hyperthyroidism, two patients showed lid retraction due to previous lid or orbital syrgery and one patient revealed lagophthalmos caused by facial palsy, All patients showed excellent cosmetic appearance during the follow-up period of 6 to 32 months (average 15months), but two patients required reoperation with happy results.

Experimental proliferative vitreoretinopathy / 영남의대학술지

The authors performed experimental study to produce proliferative vitreoretinopathy by intravitreal injection of homologous fibroblasts in pigmented rabbits. Twenty four eyes of 12 rabbits were divided into control and experimental groups. In experimental group, the eyes were pretreated with expanding gas, perfluoropropane for the vitrectomy. In control group, no such procedure was preceded. In both groups, 5.0×10⁴, 1.0×10⁵ and 1.5×10⁵ cells of homologous fibroblasts were injected into the vitreous cavity. All the eyes were observed regularly with indirect ophthalmoscope followed by fundus photography. Those eyes were enucleated in 1, 2, 4 weeks for the light and electron microscopic studies. The development and severity of the proliferative vitreoretinopathy were correlated with the numbers of the injected fibroblast. This was more pronounced in the experimental group.

Comparisons of the Lang, Randot, TNO and New Stereo Tests in Screening and Office use in Children

Stereoacuity has given a reliable clue of detacting clinically important strabismus, amblyopia and anisometropia in children. There are many tests of stereoacuity in common use, and comparisions of these tse tests are needed for clinical application. Stereoacuity was investigated in 2 to 14-year-old children by using commercially available stereotests(Lang, Randot, TNO and New stereo tests). Each test was held exactly at right angles and at a distance of about 40 cm in front of the examinee and was illuminated about 160 lux. Various tests of stereopsis were discussed and their practicalities for clinical use was considered. Comparative analysis was done with each stereotest, and factors influencing stereoacuity threshold difference among the different tests were discussed. We knew many statistically interesting results and those were described in our study. Lang stereotest was simple and useful screening test in younger children. Randot stereotest was useful single method for screening and quantitative test.

Dacryocystorhinostomy with Silicone Tube used in the Lacrimal Drainage System

We performed 16 dacryocystorhinostomies with silicone tube for the chronic dacryocystitis with partial obstruction of the canaliculus. About 10 weeks postoperatively, the silicone tube was removed in 6 cases which had some epiphora, and the tube was retained in the canlaiculus in asymtomatic 10 cases. After 6 months follow up period, one case revealed a reobstruction of the common canaliculus but the other fifteen cases showed satisfactory results.

Dacryocystorhinostomy with Silicone Tube used in the Lacrimal Drainage System

We performed 16 dacryocystorhinostomies with silicone tube for the chronic dacryocystitis with partial obstruction of the canaliculus. About 10 weeks postoperatively, the silicone tube was removed in 6 cases which had some epiphora, and the tube was retained in the canlaiculus in asymtomatic 10 cases. After 6 months follow up period, one case revealed a reobstruction of the common canaliculus but the other fifteen cases showed satisfactory results.