• Clinical and Experimental Pediatrics
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• v.61 no.11
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• pp.348-354
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• 2018

Purpose: The purpose of this study was to identify the causes, symptoms, and complications of hypoproteinemia to prevent hypoproteinemia and provide appropriate treatment to children with atopic dermatitis. Methods: Children diagnosed with atopic dermatitis with hypoproteinemia and/or hypoalbuminemia were retrospectively reviewed. The patients' medical records, including family history, weight, symptoms, treatment, complications, and laboratory test results for allergies and skin cultures, were examined. Results: Twenty-six patients (24 boys) were enrolled. Seven cases had growth retardation; 7, keratoconjunctivitis; 6, aural discharges; 5, eczema herpeticum; 4, gastrointestinal tract symptoms; and 2, developmental delays. In 21 cases, topical steroids were not used. According to the blood test results, the median values of each parameter were elevated: total IgE, 1,864 U/mL; egg white-specific IgE, $76.5kU_A/L$; milk IgE, $20.5kU_A/L$; peanut IgE, $30kU_A/L$; eosinophil count, $5,810/{\mu}L$; eosinophil cationic protein, $93.45{\mu}g/L$; and platelet count, $666.5{\times}10^3/{\mu}L$. Serum albumin and total protein levels decreased to 2.7 g/dL and 4.25 g/dL, respectively. Regarding electrolyte abnormality, 10 patients had hyponatremia, and 12, hyperkalemia. Systemic antibiotics were used to treat all cases, and an antiviral agent was used in 12 patients. Electrolyte correction was performed in 8 patients. Conclusion: Hypoproteinemia accompanying atopic dermatitis is common in infants younger than 1 year and may occur because of topical steroid treatment continuously being declined or because of eczema herpeticum. It may be accompanied by growth retardation, keratoconjunctivitis, aural discharge, and eczema herpeticum and can be managed through skin care and topical steroid application without intravenous albumin infusion.

• Advances in pediatric surgery
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• v.14 no.2
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• pp.117-124
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• 2008

Children who underwent reparative operations for esophageal atresia (EA) with or without tracheoesophageal fistula (TEF), are confronted with many gastrointestinal or respiratory problems, especially during the early years of life. We reviewed the medical records of 50 patients who underwent repairs of EA with or without TEF at the Division of Pediatric Surgery, Samsung Medical Center, from December 1994 to December 2005. Current status of children was accessed by telephone-interview, but only 27 of them were accessible. Of 50 patients, 3 patients (6 %) were type A, 45 patients (90 %) were type C, and 2 patients (4 %) were type E. The mean interval between primary operation and interview was 5.5 years. The incidences of growth retardation (<10 percentile of height/weight) were 39 % and 21 % during the first 5 years after repairs, respectively. The incidences of dysphagia or gastroesophageal reflux and recurrent respiratory infections were 33 % and 39 %, respectively. However, these problems were likely to improve as the children grew. The incidences of growth retardations (<10 percentile of height/weight) were 11 % and 11 % for the children more than five years postoperative. The incidences of dysphagia or gastroesophageal reflux and recurrent respiratory infections were 22 % and 22 %, respectively. Children with EA with or without TEF are faced with many obstacles. Close observation and adequate treatment for delayed postoperative complications are necessary to improve the quality of life for these children.

• Journal of Korean Neurosurgical Society
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• v.66 no.6
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• pp.642-651
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• 2023

Objective : Endothelial colony-forming cells (ECFCs) have been reported to play an important role in the pathogenesis of moyamoya disease (MMD). We have previously observed stagnant growth in MMD ECFCs with functional impairment of tubule formation. We aimed to verify the key regulators and related signaling pathways involved in the functional defects of MMD ECFCs. Methods : ECFCs were cultured from peripheral blood mononuclear cells of healthy volunteers (normal) and MMD patients. Low-density lipoproteins uptake, flow cytometry, high content screening, senescence-associated β-galactosidase, immunofluorescence, cell cycle, tubule formation, microarray, real-time quantitative polymerase chain reaction, small interfering RNA transfection, and western blot analyses were performed. Results : The acquisition of cells that can be cultured for a long time with the characteristics of late ECFCs was significantly lower in the MMD patients than the normal. Importantly, the MMD ECFCs showed decreased cellular proliferation with G1 cell cycle arrest and cellular senescence compared to the normal ECFCs. A pathway enrichment analysis demonstrated that the cell cycle pathway was the major enriched pathway, which is consistent with the results of the functional analysis of ECFCs. Among the genes associated with the cell cycle, cyclin-dependent kinase inhibitor 2A (CDKN2A) showed the highest expression in MMD ECFCs. Knockdown of CDKN2A in MMD ECFCs enhanced proliferation by reducing G1 cell cycle arrest and inhibiting senescence through the regulation of CDK4 and phospho retinoblastoma protein. Conclusion : Our study suggests that CDKN2A plays an important role in the growth retardation of MMD ECFCs by inducing cell cycle arrest and senescence.

• Childhood Kidney Diseases
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• v.24 no.2
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• pp.115-119
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• 2020

Distal renal tubular acidosis (dRTA) is a rare renal tubular disorder characterized by normal anion gap metabolic acidosis, hypokalemia, and high urine pH. It can be inherited or acquired. In untreated pediatric patients with dRTA, rickets and growth retardation are common. We report the case of a 12-year-old Lao girl who presented with typical clinical features of dRTA with severe bone deformities that developed after a bed-ridden state due to a bicycle accident at the age of 8 years. Initial laboratory tests revealed metabolic acidosis with a normal anion gap, hypokalemia, and alkali urine. Renal ultrasonography revealed bilateral medullary nephrocalcinosis. Whole exome sequencing revealed no pathogenic mutations. After treatment with oral alkali, potassium, and vitamin D, she could walk and run. Later, she underwent corrective orthopedic surgeries for bony deformities. Thus, in pediatric dRTA patients, despite severe symptoms remaining untreated, accurate diagnosis and proper management can improve quality of life.

• Journal of Nutrition and Health
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• v.8 no.4
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• pp.9-14
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• 1975

Growth retardation and a variable degree of body disproportion are recognized features of malnutrition, and mild and moderate protein-calorie malnutrition(PCM). Among the various body measurements suggested to assess the prevalence of all grades of PCM as judged by growth retardation and by body disproportion, the 'mid-upper-arm circumference'-abbreviated to 'arm-circumference' has been suggested as a potential useful simple field index for the assessment of PCM showing that the measurement would give composite information simultaneously on three important effects on PCM-deficit in the muscle protein reservoirs, availability of calorie stores in the form of subcutaneous fat, and growth failure. And this is selected because of its easy accessibility, and less involvement with clinical edema. This study is conducted to make a comparison between the percentage of Korean weight for age standards and the percentage of mid-upper-arm circumference for age standards of 175 preschool children aged $3{\sim}72$ months who are selected among the low-income residents in Seoul. In this study, a comparison is made between the results obtained by expressing the observed weight of the child as a percentage of Korean standard, referred to as 'weight-for-age' and the observed arm-circumference expressed as a percentage of the age-specific arm standard of Jelliffe, referred to as 'arm-for-age'. All the measurements were taken following the techniques described by Jelliffe. The left mid upper arm was measured using a glass-fibre tape and the Fairbanks Morse beam balance was used for weighing. 80% level of weight for age Korean standard and 85% level of arm for are Jelliffe standard were used as an upper borderline limit for PCM. Comparing the 80% weight-for-age and the 85% arm-for-age standard as an upper limit for PCM, for children aged $3{\sim}72$ months, results in 84.6% agreement with the sensitivity of 86.4% and its specificity of 83.5%. If arm circumference alone had been measured and judgement made on this basis, then only 5.1% of the children would have been 'wrongly' classified. And there is a moderately close correlation between arm circumference and weight for age as the data in Table 4 shows. The problem therefore lies in the standard for arm circumference in normal children and in determining what is the lower limit of normal. Once this is clearly difined, one can rely more confidently on arm circumference measurements alone for the nutritional assessment of early childhood.

• Clinical and Experimental Pediatrics
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• v.61 no.7
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• pp.221-225
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• 2018

Purpose: Congenital hypothyroidism (CH) is the most common endocrine disorder in children. Thyroid hormone deprivation results not only in mental retardation but also growth retardation. This study investigates the final height (FH) in Korean patients with CH detected by newborn screening and examines factors that may affect the FH. Methods: The medical records of Korean CH patients (n=45) were reviewed. The FH was examined and target height (TH) was calculated based on mid-parental height. The FH z score (FHZ) and TH z score (THZ) were computed using the 2007 Korean National Growth Chart. The FHZ and THZ were compared with a Student t test. The impact of the etiology of CH (athyreosis, dyshormonogenesis, ectopic thyoid, hypoplastic thyroid), initial serum thyroid stimulating hormone (TSH) level, initial free thyroxine (T4) level, and time of therapy initiation based on FH was assessed. Results: The mean FHZ was $0.10{\pm}1.01$ for male patients and $-0.11{\pm}1.09$ for female patients. There were no significant differences between FHZ and THZ for both female (P=0.356) and male patients (P=0.237). No significant relationship was found between FH and the etiology of CH, initial TSH level, initial free T4 level, and the time of therapy initiation. Conclusion: Early intervention and satisfactory management do not appear to impede growth in Korean patients with CH. Thus, early detection and proper management of patients with CH detected by newborn screening program are necessary.

• Clinical and Experimental Pediatrics
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• v.60 no.12
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• pp.408-412
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• 2017

Combined oxidative phosphorylation deficiency-17 (COXPD-17) is very rare and is caused by homozygous or compound heterozygous mutations in the ELAC2 gene on chromosome 17p12. The ELAC2 gene functions as a mitochondrial tRNA processing gene, and only 4 different pathogenic mutations have been reported in ELAC2-associated mitochondrial dysfunction involving oxidative phosphorylation. Affected patients show various clinical symptoms and prognosis, depending on the genotype. We report a novel mutation in the ELAC2 gene (c.95C>G [p.Pro32Arg], het), in an infant with COXPD-17 who presented with encephalopathy including central apnea and intractable epilepsy, and growth and developmental retardation. During hospitalization, consistently elevated serum lactic acid levels were noted, indicative of mitochondrial dysfunction. The patient suddenly died of shock of unknown cause at 5 months of age. This is the first case report of COXPD-17 in Korea and was diagnosed based on clinical characteristics and genetic analysis.

• Childhood Kidney Diseases
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• v.9 no.1
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• pp.102-107
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• 2005

With the advent of hemodialysis, the success of renal transplants in the 1960s and the wide use of continuous ambulatory peritoneal dialysis at the end of the 1970s, children with renal failure now enjoy an extended life span. As a result, several children experience renal osteodystrophy and growth retardation. Renal osteodystrophy is induced by phosphorus retention, hypocalcemia, low vitamin D levels and hyperparathyroidism. The pharmacologic interventions are used to prevent bone deformities and to normalize growth velocity. But surgical intervention is required sometimes whorl osteodystrophy is severe and poorly controlled. We report an eight-year-old boy with ctironic renal failure who developed severe bone deformities and needed osteotomy.

• Journal of the korean academy of Pediatric Dentistry
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• v.31 no.1
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• pp.120-125
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• 2004

Cornelia de Lange syndrome is a disorder of unknown etiology resulting in an syndrome characterized by specific dysmorphic features. Therefore this syndrome is diagnosed only by clinical features and other examinations for diagnostic aim are not effective. There are general growth retardation, mental retardation, hypertrichosis, confluent eye brows, low hair line, broad nasal bridge, anteverted nose tip, malformed limbs, webbing of toes, heart defect, gastroesophageal reflux disease, ear and ocular problems. Features associated oral structures are micrognathia, delayed eruption of teeth, cleft lip, cleft plate, thin upper lip and downturned angles of mouth. These are cases about two children who visited Department of Pediatric Dentistry of Chonbuk National University because of dental caries with Cornelia do Lange syndrome.

• Journal of the korean academy of Pediatric Dentistry
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• v.37 no.1
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• pp.124-129
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• 2010

Seckel syndrome is an autosomal recessive disorder characterized by intrauterine growth retardation and post-natally by dwarfism, severe microcephaly, bird-headed profile with receding chin, prominent nose, joint defects, clubfoot, sparse hair, malformation of genitourinary tract and rectum, mental retardation and hematological disorders. There is also a reduction in the number of blood cells. Dental anomalies of Seckel syndrome are crowded teeth with malocclusion, enamel hypoplasia, absence of some teeth and taurodontism. This report described the oral and maxillofacial manifestations of children associated with Seckel syndrome. Children with Seckel syndrome have several dental and skeletal irregularities. The purpose of this study was to report the dental and medical characteristics of the patient and review the literatures of Seckel syndrome.