• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.20 no.4
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• pp.222-226
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• 2017

Purpose: Celiac disease, an autoimmune enteropathy triggered by exposure to gluten, is not uncommon in South Jordan. However, its prevalence is underestimated due to lack of physician awareness of the diversity of disease presentation. The clinical spectrum includes classic gastrointestinal manifestations, as well as rickets, iron-deficiency anemia, short stature, elevated liver enzymes, and edema. Our goal was to evaluate celiac disease presentation in clinically diagnosed children. Methods: Retrospective study included all children diagnosed with celiac disease between September 2009 and September 2015. Hospital charts were reviewed. Demographic data, clinical characteristics, and follow-up were recorded. Results: Thirty-five children were diagnosed with celiac disease during the study period. Mean age${\pm}$standard deviation was $6.7{\pm}3.8$ years (range, 2.0-14 years). There were 17 (48.6%) female patients. The average duration between onset of symptoms and diagnosis was $16.3{\pm}18.7$ months. Fifteen (42.9%) patients presented with classic malabsorption symptoms, whereas 7 (20.0%) patients presented with short stature. Positive tissue transglutaminase antibodies (tTg)-immunoglobulin A (IgA) was seen in 34 (97.1%) patients. The one patient with negative tTg-IgA had IgA deficiency. Although tTG-IgA values were not available for objective documentation of compliance, clinical data (resolution of presenting abnormalities and growth improvement) assured acceptable compliance in 22 (62.9%) patients. Conclusion: CD in children may present with diverse picture. Although of the small number, the non-classical presentations are not uncommon in our rural community. Gluten-free diet is the main strategy for treatment and associated with usually correction of laboratory abnormalities and improvement of growth.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.13 no.2
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• pp.120-125
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• 2013

Purpose: McCune-Albright syndrome (MAS) is caused by activating mutations in the GNAS gene, resulting in peripheral precocious puberty, caf$\acute{e}$-au-lait spots, and polyostotic fibrous dysplasia (POFD). The aim of the present study was to describe the diverse clinical and endocrine characteristics of patients with MAS. Methods: Seven patients with MAS were included in this study and medical charts were reviewed retrospectively for following parameters: patient's sex and age at diagnosis, POFD, ovarian cysts, and precocious puberty. Results: The mean age at diagnosis was $5.8{\pm}4.2$ years. One patient was male (14%) and the other six patients were female (86%). Peripheral precocious puberty was associated with 6 patients (86%). Five patients manifested premature menarche as early as 2 to 5 years of age. Letrozole was administered to 4 patients, tamoxifen to one patient and GnRH agonist to one patient. Five females developed ovarian cysts. Thyroid function tests were performed in all patients and one patient showed hyperthyroidism (14%) and has been treated with methimazole. One patient presented with pseudohypoparathyroisdism, phosphaturia, calciuria suggesting hypophosphatemic rickets. Six patients (86%) revealed POFD. One patient had symptoms of optic nerve compression and secondary esotropia and 2 patients had bone pain. Conclusion: This study described clinical characteristics and endocrine complications of patients with MAS. Careful physical examinations with history taking and serial endocrine function tests should be needed to detect complications such as endocrinologic hyperfunction and POFD.

• Clinical and Experimental Pediatrics
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• v.55 no.11
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• pp.438-444
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• 2012

Mucolipidosis II (ML II) or inclusion cell disease (I-cell disease) is a rarely occurring autosomal recessive lysosomal enzyme-targeting disease. This disease is usually found to occur in individuals aged between 6 and 12 months, with a clinical phenotype resembling that of Hurler syndrome and radiological findings resembling those of dysostosis multiplex. However, we encountered a rare case of an infant with ML II who presented with prenatal skeletal dysplasia and typical clinical features of severe secondary hyperparathyroidism at birth. A female infant was born at $37^{+1}$ weeks of gestation with a birth weight of 1,690 g (<3rd percentile). Prenatal ultrasonographic findings revealed intrauterine growth retardation and skeletal dysplasia. At birth, the patient had characteristic features of ML II, and skeletal radiographs revealed dysostosis multiplex, similar to rickets. In addition, the patient had high levels of alkaline phosphatase and parathyroid hormone, consistent with severe secondary neonatal hyperparathyroidism. The activities of ${\beta}$-D-hexosaminidase and ${\alpha}$-N-acetylglucosaminidase were moderately decreased in the leukocytes but were 5- to 10-fold higher in the plasma. Examination of a placental biopsy specimen showed foamy vacuolar changes in trophoblasts and syncytiotrophoblasts. The diagnosis of ML II was confirmed via GNPTAB genetic testing, which revealed compound heterozygosity of c.3091C>T (p.Arg1031X) and c.3456_3459dupCAAC (p.Ile1154GlnfsX3), the latter being a novel mutation. The infant was treated with vitamin D supplements but expired because of asphyxia at the age of 2 months.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.16 no.3
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• pp.141-147
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• 2016

Hypophosphatasia is caused by the mutations in ALPL, which encodes tissue-nonspecific alkaline phosphatase (TNSALP). It can be inherited either in an autosomal dominant or recessive manner. Clinically, hypophophosphatasia is characterized by skeletal findings similar to those in rickets or osteomalacia, but serum alkaline phosphatase levels are decreased in the affected patients. Hypophosphatasia can be classified into six clinical forms according to age at diagnosis and severity of symptoms: perinatal lethal, infantile, childhood, adult, odontohypophosphatasia, and perinatal benign. As being a very rare disease, only one case has been reported in Korean population. Here we describe a case with perinatal benign hypophosphatasia with recessive ALPL mutations. Bowing of lower legs was detected in prenatal period and low serum alkaline phosphatase level was noted after birth. During the follow-up evaluation for 4.5 years, bone mineralization and legs bowing were improved but the growth retardation was persistent. As the recombinant bone-targeted human TNSALP became available, the clinical improvement of the affected patients is expected including the case described here with this treatment. More efforts are needed to identify the cases affected by hypophosphatasia.

• Journal of the korean academy of Pediatric Dentistry
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• v.33 no.1
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• pp.116-121
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• 2006

Familial hypophosphatemia is the most common hereditary rickets which occur hypophosphatemia as the calcium concentration in the blood serum is normal but the phosphate concentration in the blood serum decreases by dysfunction of renaltubular phosphorus reabsorption. In spite of the low concentration of phosphate in the blood serum discharge of phosphate by urine and alkaline phosphatase increases remarkably. It is a sex-linked and normally male show severe clinical symptoms than female. This kind of familial hypophosphatemia patients show frontal bossing, square head, short of status for general finding, and for dental finding, thinning of limina dura and dental follicle, thin and hypoplastic enamel, enlarged pulp chamber and canal, high occurance rate of periapical and periodontal abscess and unknown cause of rarefying osteitis. This case is to report about the clinical finging and dental treatment of a child patient, who came to the hospital for treatment of deciduous teeth caries but was refered to pediatrics because the child showed clinically short of status, bow-leg and radiographically enlarged pulp chamber and canal, there as diagnosed as familial hypophosphatemia.

• Journal of the korean academy of Pediatric Dentistry
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• v.50 no.2
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• pp.192-204
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• 2023

This study aimed to determine the criteria for quantifying developmental defects of enamel in primary teeth in premature babies and to investigate the severity of developmental defects according to the gestational age, birth weight, systemic complications, and treatments received after preterm birth. Birth information, a history of complications, the duration of parenteral nutrition, and endotracheal intubation were investigated by retrospectively reviewing the admission and discharge records of premature babies in the neonatal intensive care unit. The Preterm Developmental Defects of Enamel (PDDE) index was designed by modifying the existing developmental defects of enamel index. Based on PDDE index, the evaluator scored developmental defects of enamel by classifying them as enamel hypomineralization and hypoplasia. The PDDE scores in the extremely preterm and extremely low birth weight groups were significantly higher than those in other groups. Furthermore, PDDE scores of premature babies with bronchopulmonary dysplasia, rickets, intraventricular hemorrhage, or necrotizing colitis were significantly higher than those in the control group. In addition, more than 50 days of endotracheal intubation and more than 20 days of parenteral nutrition were associated with significantly higher PDDE scores than those in the control group and were risk factors for developmental defects of enamel. This study provides basic information for identifying risk factors for developmental defects of enamel in premature babies.

• Clinical and Experimental Pediatrics
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• v.52 no.11
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• pp.1216-1220
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• 2009

Purpose:To analyze and compare various cases in which peritoneal drainage was used as the primary treatment method in preterm infants with intestinal perforation. Methods:Among the preterm infants of less than 28 weeks of gestation who were admitted to the neonatal intensive care unit (NICU) at the Gangnam Severance Hospital from April 2006 to April 2009, 7 who had developed intestinal perforation were studied retrospectively. We investigated the clinical characteristics, secondary operation performances, morbidities, complications, and mortalities. Results:Among the 7 infants, 5 survived. Of the 5 cases, 3 received laparotomy, of which 2 were confirmed as having necrotizing enterocolitis. Of the 2 infants who died, 1 had received laparotomy before 48 h of peritoneal drainage, while the other had not received any subsequent treatment. Of the 7 children, 4 had patent ductus arteriosus (PDA), of which 3 had received indomethacin injection. Five infants had begun enteral feeding before they developed intestinal perforation. Of the 5 infants who survived, 4 were diagnosed with cholestasis. Of the 7 infants, 4 developed periventricular leukomalacia (PVL) and 3 developed rickets. Conclusion:Although the use of peritoneal drainage as the primary management of intestinal perforation in preterm infants is controversial, we suggest that it can be used for treating extreme premature neonates. Further randomized controlled study will be required to determine the feasibility of using this method.

• The Korean Journal of Nuclear Medicine Technology
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• v.19 no.2
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• pp.112-114
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• 2015

Purpose Vitamin D to Anti- Rickets both steroid compounds showing activity, By acting on bone tissue secretary and the key to maintain serum Ca homeostasis. The blood level of vitamin D is the largest in D3 that the concentration of the metabolite is reflected in the holding state of vitamin D in vivo. Sunlight to change the 7-dehydrocholesterol in the skin and through the skin to D3, In the liver in combination with the D2 and D3 D4 changes. The Radioimmunoassay(RIA) method is measuring the D 3, the sensitivity can be measured also difficult trace substance to measure the normal test because it is very sensitive, but recently, a check is possible, for the Total D3 in Chemimicroparticle immunoassay(CMIA) or Chemiluminescent immunoassay(CLIA) measuring using microparticle RIA and CMIA(Architect i2000SR) / use the CLIA(DXI-800) method to compare and evaluate the correlation between the tests in the same test items. Materials and Methods Commissioned from January 2014 to March 2015 patients were enrolled in a total of 273 people. 29 out of 273 people conducted by RIA were compared with CMIA, 244 patients were compared with CLIA. Using reagents and equipment were used RIA(Diasource), CMIA(Architect i2000SR, Abbott Diagnostics) / CLIA( Unicel DXi-800, Beckman coulter). Results Correlation of the RIA and CLIA was a R2 = 0.1844 (y = 0.7303x + 3.9005), and the correlation of RIA CMIA is R2 = 0.2762 (y = 0.8862x + 4.56) respectively. (According to statistics, during the same period RIA is Deficiency 4.31%, Insufficiency 90.53%, Sufficiency 5.16%, was Excess 0%, CLIA / CMIA is Deficiency 17.02%, Insufficiency 75.91%, Sufficiency 7.03%, indicating the distribution of 0.03 % Excess) Conclusion Serum vitamin D and parathyroid hormone that show an inverse relationship, the level above which are not parathyroid hormone and vitamin D reduced the increase. The density is different for each study, at most 20 is reported to be the maximum between 30 ng / ml. In Korea it requires a proposed standard of vitamin D deficiency, reference to the WHO lack the case more than 10ng/ml, 20ng/ml and defined by the lack of, if not more than, the IOM, but looking at 12ng/ml or less to the normal to lack, at least 20ng/ml, the reference do not match the deficit under 20ng/ml, 21-29ng/ml relative lack between, was also defined as a sufficient condition for more than 30ng/ml. Although not statistically is between RIA and CLIA two ways to vitamin D levels change according to season match, when seasonally seen in summer as commonly known (April to September), winter (October to March) relative to the increase measured than it was found. Finally, the study on the correlation between the two methods have been expected to result in a consistent and apply the same view high reference value on the graph is difficult. However, there may be differences between the test equipment and methods, and could be especially the case of RIA method using an organic solvent is difficult to compare different methods and correlated view similar trend in vitamin D deficiency and quarterly aspect ratio.

• Korean Journal of Poultry Science
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• v.21 no.3
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• pp.157-168
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• 1994

This study was carried out to elucidate the time course variation of vitamin $D_{3}$ (V$D_{3}$) and 25-hydroxyvitamin $D_{3}$ [25(OH)$D_{3}$] contents in the liver and skeleton of 3-wk old broiler chicks when treated with different UV irradiation procedure. Day-old Hubbard chicks were fed vitamin D deficient diet for 3 wk and exposed to medium wave ultraviolet(UVB) light with different irradiation procedures. Procedure I was 30 min continuous irradiation(O.204 mJ /$cm^{2}$) and Procedure II was three seperate 10 min irradiation with 12 h intervals, and Procedure III was three seperate 10 min irradiation with 24 h intervals. The liver and skeleton samples were collected at 10 different times between 0000~2400 h after the last irradiation. The V$D_{3}$ and 25(OH)$D_{3}$ fractions wereseparated by Sep-Pak silica cartridge and the concentrations were determined by normal phase HPLC. The mean content of V$D_{3}$ in the liver of the birds treated by Procedure II was 6.68 ng /g, which was higher than 5.60 and 5.30 ng /g from Procedure I and Ill, respectively(P<.O5). With regard to the effect of elapsed time after UVB irradiation on the V$D_{3}$ concentration of the liver, 96 h treatment showed the highest value(13.08 ng/g)(P<.05). There was a significant(P$D_{3}$ were significantly(P$D_{3}$ in the skeleton of tibia and femur, there were no significant differences among Procedure I, II and III, but significant differences were found among those from various elapsed time after irradiation, The highest value was shown at 96 h(O.99 ng /g) treatment, and interaction between irradiation procedure and elapsed time was not significant. With regard to the mean content of 25(OH)$D_{3}$ in bone, the Procedure II(18.79 ng /g) and III(17.73 ng /g) showed higher values than Procedure I did (P<.05), and the 12 h elapsed time showed the highest value(31.17 ng /g) among 10 treatments (P<.05), however, there was no significant interaction between exposing procedure and elapsed time. In conclusion, the Procedure II would he more desirable than Procedure I or III to produce more V$D_{3}$ and 25(OH)$D_{3}$ in the liver and skeleton of birds by exposing to the UVB light. Also, it was verified that 25(OH)$D_{3}$ increases more quickly than V$D_{3}$ in both tissues tested and is utilized more quickly to recover from the rickets of chicks.

• Korean Journal of Fisheries and Aquatic Sciences
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• v.3 no.1
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• pp.52-64
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• 1970

Fingerlings hatched from the eggs of the puffer, Fugu rubripes, which were spawned on May 21, 1969, and were cultivated. The results of their growth during 150 days, until October 25th, are summarized as follows: 1. The eggs began to hatch after 163 hours, at a water temperature of 15.9 to $17.4^{\circ}C$, and the hatching rate was $61.56\%$. 2. They reached the post-larval stage 6 to 7 days after hatching, and at this time a high mortality occurred. The mortality rate was 57.26 to $68.0\%$. 3. Sixteen days after hatching some of the larger fingerlings (6.7mm in total length) began attacking some of the smaller ones (4.6mm in to total length). 4. Twenty five to twenty eight days after hatching, the fish changed their food, and at this time a second high mortality occured. The total mortality rate amounted to 90.7 to $90.9\%$ of the total hatch. 5. After the fingerling stage. cannibalism occurs. The fish usually attack the caudal part of other fingerlings. It occurs regardless of body length and when the food supply is short. 6. The food coeffiicient at the age of 46 days (when body length is 53 to 68 mm) was 5.5 for short-necked clams, 8.5 for earth-worms, and 8.7 for fishes. 7. A third hish mortality occurred 53 to 63 days after hatching, the total mortality amounting to 95.76 to $97.34\%$, and the main cause of the mortality was found to be rickets resulting from nutritional deficiency 8. The growth rates were as follows: 2.68mm just after hatching, 3.84mm at the age of 10 days; 7.96mm after 25 days; 20.96mm or 130mg after 40 days; 73.68mm or 9.06g after 80 days: and 123mm or 31.8g after 150 days. 9. The water temperature during the above period was 15.7 to $28.4^{\circ}C$ with an average of $22.10^{\circ}C$ and the salinity was 25.53 to $34.50\%$ with an average of $32.07\%$, 10. The young of this species could endure well a wide range and sudden rise in salinity, and could survive easily when the salinity suddenly fell to $5\%$, but a considerable mortality occured when it fell to $3\%$. 11. When the fish were tranferred directly to fresh water from normal sea water they died out in 9 hours and 40minutes. However, when transferred from water of $5\%$ salinity at which they were reared for 54 days, they survived for 60 hours and 40 mimutes longer than in the former case.