Schaaf-Yang syndrome (SYS) is a rare genomic imprinting disorder caused by truncating mutations in the paternally derived MAGE family member L2 (MAGEL2) allele. It is also responsible for Prader-Willi syndrome, characterized by neonatal hypotonia, developmental delay, intellectual disability, respiratory distress in early infancy, and arthrogryposis. More than 250 individuals with approximately 57 different molecular variants have been reported since 2013, but the phenotype-genotype association in SYS is not yet fully understood. Here, we describe the case of a Korean patient diagnosed with SYS harboring a mutation in the paternal allele of MAGEL2: c.2895G>A, resulting in a protein change of p.Trp965*. The patient’s phenotype included respiratory distress, arthrogryposis, hypotonia, and feeding difficulty in the early neonatal period. Mild renal dysfunction and hearing impairment were observed during infancy.

PURPOSE: This study was aimed to investigate the effect of early phosphorus intake on respiratory distress in extremely low-birth-weight infants (ELBWIs) with a high incidence of hypophosphatemia. METHODS: We performed a retrospective study to target 164 ELBWIs admitted to the neonatal intensive care unit in Seoul National University Children's Hospital. Birth characteristics, nutritional intake, and electrolyte levels during the first week were investigated as predictors that would affect the clinical outcomes. The correlations among invasive ventilation at postnatal age of 2 weeks, moderate-to-severe bronchopulmonary dysplasia (BPD), and phosphorous intake were analyzed. RESULTS: Hypophosphatemia (phosphorus level <4 mg/dL) was observed in 72.0% of the subjects. The rates of invasive ventilation (P=0.001) and moderate-to-severe BPD (P=0.005) were significantly lower in the high phosphorus intake group (≥0.7 mM/kg/day) than in the low phosphorus intake group (<0.7 mM/kg/day). Phosphorus intake during the first week was a significant factor affecting invasive ventilation at 2 weeks of age (adjusted odds ratio [OR], 8.212; 95% confidence interval [CI], 2.256 to 28.896; P=0.001) and moderate-to-severe BPD (adjusted OR, 3.402; 95% CI, 1.274 to 9.084; P=0.015). CONCLUSION: Early insufficient phosphorus intake confers a significantly higher risk with invasive ventilation at 2 weeks of age and moderate-to-severe BPD. Therefore, early sufficient phosphorus supply may improve respiratory outcomes in ELBWIs.
Bronchopulmonary Dysplasia ; Humans ; Hypophosphatemia ; Incidence ; Infant, Extremely Low Birth Weight ; Infant, Low Birth Weight ; Infant, Newborn ; Intensive Care, Neonatal ; Odds Ratio ; Parturition ; Phosphorus ; Retrospective Studies ; Seoul ; Ventilation

PURPOSE: We investigated the effects of hypothyroidism on feeding advancement in very low birth weight infants (VLBW). METHODS: This study was a retrospective case-control study of 14 very low birth weight infants (VLBWIs) diagnosed with hypothyroidism and other 14 infants were recruited as age- and weight-matched controls without hypothyroidism or hypothyroxinemia in Seoul National University Children's Hospital between January 2007 and August 2009. We examined whether these infants gained weight more, achieved full-volume enteral feedings sooner, had fewer episodes of increased pre-gavage residuals, and had fewer days of parenteral nutrition. RESULTS: Until full enteral feeding (120 mL/kg/day) was not statistically significant between the groups. In the hypothyroidism group, during the first 14 days after birth, the volume of feeding was smaller [14.7 (0.5-84.0) mL/kg/day, P=0.041], the episodes of increased pre-gavage residuals were frequently observed [16.7 (0.2-78) times, P=0.036], and the duration of central line was significantly longer [18 (10-50) days, P=0.018]. In hypothyroidism group, mean day at first L-thyroxine supplementation was 24.2+/-10.2 days after birth. L-thyroxine administration boosted thyroid function for hypothyroidism infants, helped them tolerate a larger amount of enteral feeding [from 89.5 (2.9-160.8) to 146.9 (31.8-178.8) mL/kg/day, P=0.002] and decreased episodes of excessive gastric residuals [from 5.5 (0-41.6) to 0 (0-44) time, P=0.026]. However, no more weight gain was statistically found. CONCLUSION: In VLBW infants, hypothyroidism may induce feeding intolerance. L-thyroxine supplementation was effective in feeding advancement on preterm infants with hypothyroidism.
Case-Control Studies ; Enteral Nutrition* ; Humans ; Hypothyroidism* ; Infant* ; Infant, Newborn ; Infant, Premature ; Infant, Very Low Birth Weight ; Parenteral Nutrition ; Parturition ; Retrospective Studies ; Seoul ; Thyroid Gland ; Thyroxine ; Weight Gain

In this article, research trend of biomaterials for spinal fusion was summarized with an emphasis on hydroxyapatite (HA), titanium(Ti), and polyetheretherketone (PEEK) as representatives of ceramics, metals, and polymers, respectively. Ceramic materials represented by HA are highly biocompatible but have low strength and fracture toughness, so there has been much effort to improve these mechanical properties. Metals such as titanium, Ti, are mechanically strong but have a drawback of stress shielding effect, which can be avoided by fabricating into porous body. Also there have been many researches to improve the biocompatibility of PEEK, which has been widely used recently as a substitute to Ti.
Biocompatible Materials ; Ceramics ; Durapatite ; Ketones ; Metals ; Polyethylene Glycols ; Polymers ; Spinal Fusion ; Titanium

BACKGROUND: To standardize renal biopsy reporting and diagnosis, The Renal Pathology Study Group of the Korean Society of Pathologists (RPSKSP) has developed a renal pathology reporting format for the native and allograft kidney. METHODS: A consensus checklist of a provisional renal biopsy format was sent to all members of the RPSKSP. Feed back opinions regarding the practical application of the checklist to the diagnostic work were received. RESULTS: Kidney biopsies require three essential examinations: by light microscopy, immunofluorescence (IF), and electron microscopy (EM). A final report of a renal biopsy should include information on specimen adequacy and a description of the morphologic change using a systematic semiquantitative method for each of the compartments, with optional separate IF and EM reports. CONCLUSIONS: A standard renal biopsy report format is important in establishing clinicopathologic correlations, making reliable prognostic considerations, comparing the findings in sequential biopsies and evaluating the effects of therapy.
Biopsy ; Checklist ; Consensus ; Kidney ; Light ; Microscopy, Electron ; Microscopy, Fluorescence ; Transplantation, Homologous

Carcinoid tumors are derived from the enterochromaffin cells of neural crest origin. Most are commonly found in the gastrointestinal (GI) tract. The rectum is the third most common site for GI carcinoids. Rectal carcinoid tumors make up 13.7% of all carcinoid tumors and the vast majority occurs in the sixth decade of life. Approximately 80% of rectal carcinoid tumors are less than 1 cm in size, limited to the submucosa without metastasis and can be safely treated by local excision. We report a case of rectal carcinoid tumor in a 13 year-old child that was successfully treated by endoscopic polypectomy.
Adolescent ; Carcinoid Tumor* ; Child* ; Enterochromaffin Cells ; Humans ; Neoplasm Metastasis ; Neural Crest ; Rectum

PURPOSE:Umbilical artery Doppler study is a commonly used non-invasive tool in high risk pregnancies because of its good correlation with the degree of placental insufficiency. We analyzed hematologic profiles and perinatal outcome of preterm infants with abnormal umbilical artery Doppler results and the risk factors of early onset thrombocytopenia. METHODS:We retrospectively reviewed the medical records of preterm infants under 35 weeks of gestational age at birth who were admitted to the neonatal intensive care unit of Seoul National University Children's Hospital from January 1, 2002 through December 31, 2004, and whose mothers had undergone umbilical artery Doppler studies within 5 days before delivery. Sixty two neonates were divided into three groups; the 1st group was defined as the patients with normal umbilical artery (UA) systolic/diastolic (S/D) ratio, the 2nd group, with increased UA S/D ratio above 95 percentile, and the 3rd, with absent or reversed end-diastolic flow (AREDF). RESULTS:Mean nucleated red blood cell (nRBC) counts per 100 white blood cells (WBCs) were 14.2 (0-150), 91.0 (0-262), 301.4 (6-884) (P<0.001), mean WBC counts were 10.8 (0- 34.1), 9.2(3.4-23.9), 5.9(0.5-15.2) (x1,000/mm(3)) (P=0.007), and mean platelet counts were 215.5+/-69.2, 185.9+/-96.7, 100.2+/-50.3 (x1,000/mL) ( Arteries ; Blood Platelets ; Erythrocytes ; Gestational Age ; Humans ; Infant, Newborn ; Infant, Premature* ; Intensive Care, Neonatal ; Length of Stay ; Leukocytes ; Medical Records ; Mothers ; Parturition ; Placental Insufficiency ; Platelet Count ; Pregnancy ; Retrospective Studies ; Risk Factors* ; Seoul ; Thrombocytopenia* ; Umbilical Arteries*

PURPOSE:Hypotension is common in extremely low birth weight infants (ELBWI) and the treatment becomes important as the survival rate of ELBWI is increasing. This study is to investigate frequency and etiologies of hypotension in ELBWI. METHODS:40 patients admitted to the NICU of Seoul National University Children's Hospital from September 2004 to June 2006 were included retrospectively. Definition of hypotension was 1) mean arterial blood pressure below 30 mmHg or below the gestational age, 2) decreased urine output or metabolic acidosis, and 3) use of inotropics. Hydrocortisone was used for inotrope-resistant hypotension. Clinical characteristics of patients with hypotension were compared with those of others without hypotension. RESULTS:Mean gestational age and mean birth weight of 40 patients was 26(+6)+/-2(+1) weeks and 787+/-149 g. 20 patients had hypotension. 17 events were within 1 week of postnatal age, 5 from 1 to 2 weeks, and 9 after 2 weeks. The etiologies of hypotension within 1 week were PDA in 12 cases, and bleeding in 4 cases. PDA, post-operative condition, adrenocortical insufficiency, and sepsis were the probable etiologies of hypotension after 2 weeks. Among 12 patients recieved hydrocortisone, 9 responded to hydrocortisone. Patients with hypotension were significantly low in gestational age and birth weight. Incidence of IVH and ROP were significantly high in patients with hypotension. CONCLUSIONS:Hypotension was frequent in ELBWI and the etiologies of hypotension were various according to postnatal ages. Significant proportion of hypotension was inotrope-resistant in ELBWI. Further studies about etiologies are in need with reference of this study.
Acidosis ; Arterial Pressure ; Birth Weight ; Gestational Age ; Hemorrhage ; Humans ; Hydrocortisone ; Hypotension* ; Incidence ; Infant* ; Infant, Low Birth Weight* ; Infant, Newborn ; Retrospective Studies ; Seoul ; Sepsis ; Survival Rate

PURPOSE: The survival rate of infants weighing less than 1,000 g at birth(extremely low birth weight infants, ELBWI) has increased due to recent advances in perinatal and neonatal intensive care. The purpose of this study was to evaluate the survival rates of ELBWI born at Seoul National University Hospital during the last six years. METHODS: A total of 99 infants were divided into three groups(period I : 2000 to 2001, period II: 2002 to 2003, period III: 2004 to 2005) based on date of birth. We compared the survival rate of ELBWI over the three periods, using CRIB II score for adjustment for clinical severity. RESULTS: Overall survival rate of ELBWI was 74.7 percent. The survival rate of ELBWI increased over the three periods(period I: 60.7 percent, period II : 73.3 percent, period III: 85.3 percent). The threshold of viability(defined as survival of at least 50 percent of infants) was 25 weeks of gestation and 600 g at birth. The birth weight-specific survival rates increased considerably over the three periods for infants < 750 g at birth(period I: 10 percent, period II: 46.2 percent, period III: 70.6 percent). The survival rates of ELBWI over the three periods increased much remarkably after adjustment for clinical severity by CRIB II score. CONCLUSION: In our institution, survival rates of ELBWI during the last six years continued to improve, particularly for infants weighing < 750 g at birth. This increase in survival rates was not associated with the clinical severity of ELBWI.
Humans ; Infant Equipment ; Infant* ; Infant, Extremely Low Birth Weight ; Infant, Low Birth Weight* ; Infant, Newborn ; Intensive Care, Neonatal ; Parturition ; Pregnancy ; Seoul ; Survival Rate*

Anti-glomerular basement membrane antibody mediated rapidly progressive glomerulonephritis is a rare autoimmune disease. It is characterized by acuterenal failure and crescentic glomeruli with linear immune deposits along glomerular basement membrane mediated by anti-GBM antibodies. We report a case of a sixty-years-old man with generalized edema and hematuria. On admission, BUN/Creatinine was 118/19.6 mg/dL, Hb was 10.2 g/dL. On urinalysis, protein was 3+, and many RBCs were found. Renal biopsy specimen which contained 8 glomeruli showed active cellular crescent formation in all glomeruli. On immunofluorescent staining specimen, there were 4 glomeruli which showed strong IgG linear staining along the glomerular basement membrane and mild C3 & C1q deposit along the capillary walls. The titer of anti-GBM antibody was 123 EU by ELISA (normal: <10 EU). We treated with high dose of corticosteroid and plasmapheresis, but renal function was not recovered even after 3 months of hemodialysis.
Antibodies ; Autoimmune Diseases ; Basement Membrane* ; Biopsy ; Capillaries ; Edema ; Enzyme-Linked Immunosorbent Assay ; Glomerular Basement Membrane ; Glomerulonephritis ; Hematuria ; Hemorrhage* ; Immunoglobulin G ; Plasmapheresis ; Renal Dialysis ; Urinalysis