Purpose: Despite enzyme replacement therapy (ERT) and/or allogeneic hematopoietic stem cell transplantation, individuals with mucopolysaccharidosis (MPS) I or II often experience significant growth deficiencies. This study aimed to assess the safety and efficacy of recombinant human growth hormone (hGH) treatment in children diagnosed with MPS I or II. Materials and Methods: A total of nine pediatric patients—four with MPS I and five with MPS II—underwent treatment with ERT and hGH at Samsung Medical Center. Results: The mean hGH dose administered was 0.26±0.03 mg/kg/week. In the MPS I group, three patients showed an increase in height Z-score from –4.09±0.83 to –3.68±0.43 after 1 year of hGH treatment, and to –3.10±0.72 by the end of the hGH regimen. In the MPS II group, while the height Z-score of four patients decreased according to standard growth charts, it improved from 1.61±1.79 to 2.71±1.68 based on the disease-specific growth chart through hGH treatment. Two patients discontinued hGH treatment due to lack of efficacy after 22 and 6 months each of treatment, respectively. No new-onset neurological symptoms or necessity for prosthetic or orthopedic surgery were reported during hGH treatment. Conclusion This study provides insights into the impact of hGH on MPS patients, demonstrating its potential to reverse growth deceleration in some cases. Further research is needed to explore the long-term effects of hGH on changes in body composition, muscle strength, and bone health in this population.

Smith-Magenis syndrome (SMS) is a genetic disease caused by microdeletion of p11.2 in chromosome 17. SMS patients have characteristic facial features and accompanying congenital malformations involving the brain, cardiovascular system, and urinary tract. Compared with the distinctive facial characteristics, organ malformations are less common. Several cases of SMS with tetralogy of Fallot have been reported in Korea, none of which were accompanied by other organ malformations. We present the first case report in Korea of an SMS patient with malformations of the brain, heart, and urinary tract.
Brain ; Cardiovascular System ; Chromosomes, Human, Pair 17 ; Cisterna Magna ; Heart ; Humans ; Korea ; Smith-Magenis Syndrome* ; Tetralogy of Fallot ; Urinary Tract

PURPOSE: Young infants with suspected sepsis routinely undergo laboratory evaluation. In particular, when an infant is a newborn baby, evaluation of the cerebrospinal fluid (CSF) has been frequently included, because the prognosis is poor, irrespectively of the etiology of meningitis. We aimed to examine the clinical predictors of CSF pleocytosis among the newborns. METHODS: We retrospectively reviewed the records of all infants, aged 30 days or younger, requiring lumbar puncture. Electronic data sources provided the demographic data of the newborns, the clinical manifestations, and all laboratory values. After a univariate analysis, logistic regression analysis was performed to predict newborns at increased risk for CSF pleocytosis. RESULTS: One hundred thirteen newborns were studied; 20 of whom (17.7%) had CSF pleocytosis. Fever was significantly associated with CSF pleocytosis (P=0.008, OR=5.08, 95% CI, 1.39-18.54). The infants with lethargic appearance also had an increased risk for CSF pleocytosis. Blood urea nitrogen level was higher in patients with pleocytosis. Logistic regression analysis revealed that other clinical features and laboratory data were not significant, except for fever and lethargy. A total of 45% of the infants with CSF pleocytosis were diagnosed with serious bacterial infection, as opposed to 19.4% of those without CSF pleocytosis. CONCLUSION: In case of neonates, it would be better to perform lumbar puncture, when the infant has fever or lethargic appearance, although, the results of routine laboratory tests were nonspecific.
Aged ; Bacterial Infections ; Blood Urea Nitrogen ; Information Storage and Retrieval ; Electronics ; Electrons ; Fever ; Humans ; Infant ; Infant, Newborn ; Lethargy ; Leukocytosis ; Logistic Models ; Meningitis ; Prognosis ; Retrospective Studies ; Sepsis ; Spinal Puncture

PURPOSE: The aim of this study was to develop an appropriate nursing information guideline according to corrected age, after investigating parents' concerns about the growth, development, and diseases of their premature infants after discharge from the neonatal intensive care unit (NICU). METHODS: The parents of premature infants (birth weight, <2,500 g; gestational age, <37 weeks) who went to a neonatal follow-up clinic after NICU discharge at Seoul St. Mary's Hospital from January 2005 to December 2009, were asked with regard to their concerns about their infants through a questionnaire survey. The results of physical examinations, including body measurements and neurodevelopmental status at 4, 8, 12, and 18 months of corrected age, were retrospectively reviewed in 390 infants. RESULTS: The most common parental concerns were developmental delay, poor growth, and feeding and nutritional problems. Parental concerns about developmental delay, growth failure in improvement in body weight and length, and overweightness were high in specificity but very low in sensitivity. After NICU discharge, 30% of premature infants experienced infectious diseases before 18 months of corrected age, the most common of which was respiratory tract infection. CONCLUSION: For guiding of premature infants in outpatient day clinics after NICU discharge, it is necessary to identify the parents' highest concerns, to educate them about the possibilities of growth and neurodevelopmental disabilities in their infants and to provide them with handouts containing guidelines on the management of infectious diseases, especially respiratory infections.
Body Weight ; Communicable Diseases ; Follow-Up Studies ; Gestational Age ; Humans ; Infant ; Infant, Newborn ; Infant, Premature ; Intensive Care Units, Neonatal ; Intensive Care, Neonatal ; Outpatients ; Overweight ; Parents ; Physical Examination ; Surveys and Questionnaires ; Respiratory System ; Respiratory Tract Infections ; Retrospective Studies ; Sensitivity and Specificity

Neonatal alloimmune thrombocytopenia (NAIT) occurs when maternal alloantibodies react to antigens expressed on fetal platelets, which is mainly platelet-specific alloantigen or HLA, resulting in their immune destruction. Here, we described a patient who suffered from NAIT caused by anti-HLA-A2 antibody. Sera from the mother and the newborn were screened for human platelet antigen-specific antibodies and HLA antibodies by ELISA, and HLA antibodies were detected in both of them. The antibody specificity was identified as anti-HLA-A2 by Luminex single antigen bead assay. HLA typing results showed that patient's father descended HLA-A2 antigen on the patient and the mother was HLA-A2 negative. It is most conceivable that anti-HLA-A2 alloantibody in the mother's sera crossed the placenta and subsequently caused NAIT in the case presented. The patient received platelet concentrates, oral steroid and intravenous globulin and platelet count increased to 120x10(9)/L on the 90th day of life. The Luminex single antigen bead assay used in this case is highly sensitive and specific assay to determine antibody specificity and it is faster and more convenient for routine use in clinical laboratory so that this assay could be useful to diagnose NAIT caused by HLA antibodies and treat such NAIT patients with HLA matched platelet transfusion.
Antibodies ; Antibody Specificity ; Blood Platelets ; Enzyme-Linked Immunosorbent Assay ; Fathers ; Histocompatibility Testing ; HLA-A2 Antigen ; Humans ; Infant, Newborn ; Isoantibodies ; Isoantigens ; Mothers ; Placenta ; Platelet Count ; Platelet Transfusion ; Thrombocytopenia, Neonatal Alloimmune

PURPOSE: The purpose of this study was to determine if timing of enterostomy repair described in terms of postmenstrual age (PMA) could influence postoperative course, complications, and growth. METHODS: Under the Institutional Review Board approval, records of preterm infants who underwent enterostomy and subsequent repair from 2007 to 2013 at Seoul national university children's hospital were reviewed. Records of infants with congenital anomalies were excluded. Data collected included baseline characteristics, PMA, weight at enterostomy and enterostomy repair, postoperative course, enterostomy repair-related complications, and follow-up growth after repair. For analysis, patients were divided into 2 groups: group 1 with enterostomy repaired before PMA 40 weeks; and group 2 with enterostomy repaired since PMA 40 weeks. RESULTS: There were 54 infants: 16 in group 1 and 38 in group 2. The median weight at the time of enterostomy repair was greater in group 2 compared to those of group 1. Group 1 infants had more complications and had to be ventilated longer after enterostomy repair. They required longer periods of total parenteral nutrition and took longer to reach full enteral feeding. Group 1 infants also needed longer hospital stay after enterostomy repair. No statistical difference was observed in growth after discharge. CONCLUSION: The timing of enterostomy repair influences postoperative course and complications significantly. Therefore, it is recommended that enterostomy repair should be withheld until PMA 40 weeks. For predicting long term prognosis, more studies will be required.
Enteral Nutrition ; Enterostomy* ; Ethics Committees, Research ; Follow-Up Studies ; Humans ; Infant ; Infant, Newborn ; Infant, Premature ; Length of Stay ; Parenteral Nutrition, Total ; Prognosis ; Seoul

Hypoglycemia is one of the severe complications of diabetes. To prevent hypoglycemia, an emphasis is placed on maintaining an appropriate balance between nutrition, activity, and treatment, which can be achieved by the repetition of self-trials based on self-monitoring. Clinicians routinely focus on patients’ contribution, including timely intake of an adequate amount of carbohydrates, physical activity, antidiabetic medication, and abstinence from alcohol. Recently, many guidelines have highlighted the importance of clinicians’ factors and recommend individualized treatments according to lifestyle patterns and specific needs following the de-intensification of treatment. The optimal value of hemoglobin A1c (HbA1c) levels for blood glucose level regulation remains controversial among countries, but it generally does not exceed 8.0%. In populations that are at a risk of hypoglycemia, such as the older adults, it is advisable to adjust the target blood glucose level to less than 8.0%. Meanwhile, a blood glucose level of 7.0%–7.5% is generally recommended for healthy older adults. If the expected lifetime is shorter than 10 years or in patients with chronic kidney disease and severe cardiovascular disease, the HbA1c level target can be increased to 7.5%–8.0%. For even shorter lifetime expectancy, the target can be adjusted up to 8.0%–9.0%. To prevent hypoglycemia, the target blood glucose level needs to be adjusted, particularly in older adult patients. Ultimately, it is important to identify the maximum blood glucose levels that do not cause hypoglycemia and the minimum blood glucose levels that do not cause hyperglycemia-associated complications.

Mycoplasma pneumoniae causes various extra-pulmonary complications. As a rare but fatal hematological complication, hemophagocytic lymphohistiocytosis (HLH) can be observed in children with M. pneumoniae infection. We report a case of a 6-year-old girl with HLH who was initially presumed to have macrolide-refractory M. pneumoniae pneumonia. Despite the combination treatment of antimicrobial and anti-inflammatory agents, she showed persistent fever, hepatosplenomegaly, and thrombocytopenia. Secondary HLH associated with M. pneumoniae should be considered if unexplained clinical deterioration is noted in children with macrolide-refractory M. pneumoniae pneumonia.

Hypoglycemia is one of the severe complications of diabetes. To prevent hypoglycemia, an emphasis is placed on maintaining an appropriate balance between nutrition, activity, and treatment, which can be achieved by the repetition of self-trials based on self-monitoring. Clinicians routinely focus on patients’ contribution, including timely intake of an adequate amount of carbohydrates, physical activity, antidiabetic medication, and abstinence from alcohol. Recently, many guidelines have highlighted the importance of clinicians’ factors and recommend individualized treatments according to lifestyle patterns and specific needs following the de-intensification of treatment. The optimal value of hemoglobin A1c (HbA1c) levels for blood glucose level regulation remains controversial among countries, but it generally does not exceed 8.0%. In populations that are at a risk of hypoglycemia, such as the older adults, it is advisable to adjust the target blood glucose level to less than 8.0%. Meanwhile, a blood glucose level of 7.0%–7.5% is generally recommended for healthy older adults. If the expected lifetime is shorter than 10 years or in patients with chronic kidney disease and severe cardiovascular disease, the HbA1c level target can be increased to 7.5%–8.0%. For even shorter lifetime expectancy, the target can be adjusted up to 8.0%–9.0%. To prevent hypoglycemia, the target blood glucose level needs to be adjusted, particularly in older adult patients. Ultimately, it is important to identify the maximum blood glucose levels that do not cause hypoglycemia and the minimum blood glucose levels that do not cause hyperglycemia-associated complications.

Mycoplasma pneumoniae causes various extra-pulmonary complications. As a rare but fatal hematological complication, hemophagocytic lymphohistiocytosis (HLH) can be observed in children with M. pneumoniae infection. We report a case of a 6-year-old girl with HLH who was initially presumed to have macrolide-refractory M. pneumoniae pneumonia. Despite the combination treatment of antimicrobial and anti-inflammatory agents, she showed persistent fever, hepatosplenomegaly, and thrombocytopenia. Secondary HLH associated with M. pneumoniae should be considered if unexplained clinical deterioration is noted in children with macrolide-refractory M. pneumoniae pneumonia.