Three pediatric patients with primary hyperparathyroidism caused by parathyroid adenoma

Primary hyperparathyroidism (PHPT) is a hypercalcemia disorder with inappropriately normal or increased serum parathyroid hormone (PTH) levels resulting from excessive secretion of PTH from one or more of the parathyroid glands. PHPT is uncommon in infants and children, with an estimated incidence of 2–5 cases per 100,000 persons. Patients with PHPT usually present with bone pain, urolithiasis, or nephrolithiasis, as well as nonspecific symptoms such as fatigue and weakness. Asymptomatic hypercalcemia may also be detected incidentally. Only a few cases of pediatric PHPT have been reported in Korea. We present three patients (a 9-year-old girl, a 14-year-old boy, and a 14-year-old girl) with PHPT who manifested variable clinical features of hypercalcemia. The first and second patients each had a parathyroid adenoma and presented with abdominal pain caused by pancreatitis and a ureter stone, respectively. The third patient had an ectopic mediastinal parathyroid adenoma and presented with gait disturbance and weakness of the lower extremities. All of the patients underwent surgical resection of parathyroid adenoma, and their serum calcium levels subsequently normalized without medication.

Efficacy and safety of intravenous pamidronate infusion for treating osteoporosis in children and adolescents

Purpose@#Osteoporosis is a skeletal disorder characterized by reduced bone mass that results in increased risk of fractures. Pediatric osteoporosis can be caused by monogenic diseases, chronic diseases, and/or their treatment. This study was performed to investigate the effect of pamidronate infusion on osteoporosis in children and adolescents. @*Methods@#This study included 13 unrelated pediatric patients (10 males and 3 females) whose bone mineral density (BMD) z-score was <-2.0. Pamidronate was administered intravenously at a dosage of 1 mg/kg for 3 consecutive days every 4 months. Clinical and biochemical findings were reviewed retrospectively. The BMD values of the lumbar spine and femoral neck were assessed by dual energy x-ray absorptiometry at baseline and annually. @*Results@#The underlying diseases were immobilization (62%), inflammatory bowel disease (23%), protein-losing enteropathy (8%), and idiopathic juvenile osteoporosis (8%). The mean age at the start of treatment was 12.7±4.3 years. Duration of treatment ranged from 12–50 months. The baseline height-standard deviation score (SDS) and weight-SDS were -2.01±2.08 and -2.60±1.62, respectively. The lumbar spine BMD z-scores improved significantly after 1 year of pamidronate treatment, but the femoral neck BMD z-scores did not. However, both z-scores had significantly increased by the end of treatment. @*Conclusion@#This study demonstrated that pamidronate treatment increased BMD in pediatric patients with osteoporosis with no significant adverse events. Further studies are required to better define the long-term efficacy and safety of pamidronate therapy in a large number of pediatric patients.

Efficacy and safety of intravenous pamidronate infusion for treating osteoporosis in children and adolescents

Purpose@#Osteoporosis is a skeletal disorder characterized by reduced bone mass that results in increased risk of fractures. Pediatric osteoporosis can be caused by monogenic diseases, chronic diseases, and/or their treatment. This study was performed to investigate the effect of pamidronate infusion on osteoporosis in children and adolescents. @*Methods@#This study included 13 unrelated pediatric patients (10 males and 3 females) whose bone mineral density (BMD) z-score was <-2.0. Pamidronate was administered intravenously at a dosage of 1 mg/kg for 3 consecutive days every 4 months. Clinical and biochemical findings were reviewed retrospectively. The BMD values of the lumbar spine and femoral neck were assessed by dual energy x-ray absorptiometry at baseline and annually. @*Results@#The underlying diseases were immobilization (62%), inflammatory bowel disease (23%), protein-losing enteropathy (8%), and idiopathic juvenile osteoporosis (8%). The mean age at the start of treatment was 12.7±4.3 years. Duration of treatment ranged from 12–50 months. The baseline height-standard deviation score (SDS) and weight-SDS were -2.01±2.08 and -2.60±1.62, respectively. The lumbar spine BMD z-scores improved significantly after 1 year of pamidronate treatment, but the femoral neck BMD z-scores did not. However, both z-scores had significantly increased by the end of treatment. @*Conclusion@#This study demonstrated that pamidronate treatment increased BMD in pediatric patients with osteoporosis with no significant adverse events. Further studies are required to better define the long-term efficacy and safety of pamidronate therapy in a large number of pediatric patients.

Association of Sedentary Time and Physical Activity with the 10-Year Risk of Cardiovascular Disease: Korea National Health and Nutrition Examination Survey 2014–2017 / 가정의학회지

Background@#Sedentary behavior is associated with increased cardiovascular disease (CVD) risk. We investigated this association of sedentary time and physical activity with increased 10-year CVD risk in Korean adults. @*Methods@#This cross-sectional study used data from the Korea National Health and Nutrition Examination Survey (2014–2017). In total, 14,551 participants aged 30–74 years (6,323 men, 8,228 women) were analyzed. The usual length of sedentary time per day was categorized into three groups (<6, 6–<9, or ≥9 h/d), and physical activity (metabolic equivalents [METs]∙min/wk) was categorized into two groups (low, <600 METs∙min/wk; moderate/high, ≥600 METs∙min/wk). Logistic regression analysis was performed to assess the association between sedentary time and increased CVD risk (predicted 10-year risk ≥10%). Adjusted variables were age, sex, body mass index, marital status, employment, household income, alcohol use, family history of CVD, and comorbidity (hypertension, diabetes, and dyslipidemia). @*Results@#The average sedentary time for the 14,551 participants was 7.49 h/d, with an average 10-year CVD risk of 9.58%. There was no significant association between sedentary time and increased 10-year CVD risk in the moderate/ high physical activity group. In the low physical activity group, sedentary time ≥9 h/d had a significant association with increased CVD risk (odds ratio [OR], 1.29; 95% confidence interval [CI], 1.04–1.62). However, when the sedentary time was <6 h/d, no significant associations were found (OR, 1.17; 95% CI, 0.92–1.49). @*Conclusion@#In the low physical activity group, reduction of sedentary time might be important for preventing increased CVD risk.

Efficacy and safety of parenteral vitamin D therapy in infants and children with vitamin D deficiency caused by intestinal malabsorption

Purpose@#Oral supplementation of vitamin D can be inefficient in patients with vitamin D deficiency caused by intestinal malabsorption. This study investigated the efficacy and safety of parenteral vitamin D supplementation in infants and children with vitamin D deficiency caused by intestinal malabsorption. @*Methods@#This study included 11 patients with vitamin D deficiency who were unresponsive to oral vitamin D or were unable to try oral vitamin D therapy due to underlying conditions. All patients were treated with weekly intramuscular injection of cholecalciferol 50,000 IU. Radiological findings and biochemical parameters including serum calcium, phosphorus, alkaline phosphatase, 25-hydroxyvitamin D3 (25(OH)D3), and parathyroid hormone levels were reviewed retrospectively. @*Results@#Underlying diseases included small bowel atresia (n=3), necrotizing enterocolitis (n=3), congenital megacolon (n=2), chronic intestinal pseudoobstruction (n=1), congenital mesenteric band (n=1), and Crohn disease (n=1). Three patients exhibited rickets on X-ray findings. The mean duration of treatment was 4.8±2.9 weeks. The alkaline phosphatase levels were decreased from 710±650 IU/L to 442±284 IU/L (P=0.143). The 25(OH)D3 level was increased from 6.0±3.4 ng/mL to 50.4±28.8 ng/mL (P=0.008) after 3 months. Two patients with rickets showed improved radiologic findings after parenteral treatment. @*Conclusion@#Parenteral vitamin D therapy was effective and safe in patients with vitamin D deficiency caused by intestinal malabsorption. Long-term follow-up is needed to establish the efficacy of parenteral vitamin D therapy in a large number of patients.

Clinical, endocrinological, and molecular features of four Korean cases of cytochrome P450 oxidoreductase deficiency

Purpose@#Cytochrome P450 oxidoreductase (POR) deficiency is a rare autosomal recessive disorder caused by mutations in the POR gene encoding an electron donor for all microsomal P450 enzymes. It is characterized by adrenal insufficiency, ambiguous genitalia, maternal virilization during pregnancy, and skeletal dysplasia. In this study, we investigated the clinical, hormonal, and molecular characteristics of patients with POR deficiency in Korea. @*Methods@#This study included four patients with POR deficiency confirmed by biochemical and molecular analysis of POR. Clinical and biochemical findings were reviewed retrospectively. Mutation analysis of POR was performed by Sanger sequencing after polymerase chain reaction amplification of all coding exons and the exon-intron boundaries. @*Results@#All patients presented with adrenal insufficiency and ambiguous genitalia regardless of their genetic sex. Two patients harbored homozygous p.R457H mutations in POR and presented with adrenal insufficiency and genital ambiguity without skeletal phenotypes. The other two patients with compound heterozygous mutations of c.[1329_1330insC];[1370G>A] (p.[I444Hfs*6];[R457H]) manifested skeletal abnormalities, such as craniosynostosis and radiohumeral synostosis, suggesting Antley-Bixler syndrome. They also had multiple congenital anomalies involving heart, kidney, and hearing ability. All patients were treated with physiologic doses of oral hydrocortisone. @*Conclusion@#We report the cases of 4 patients with POR deficiency identified by mutation analysis of POR. Although the study involved a small number of patients, the POR p.R457H mutation was the most common, suggesting founder effect in Korea. POR deficiency is rare and can be misdiagnosed as 21-hydroxylase or 17α-hydroxylase/17,20-lyase deficiency. Therefore, molecular analysis is critical for confirmatory diagnosis.

Carbon-Fiber Based Microelectrode Array Embedded with a Biodegradable Silk Support for In Vivo Neural Recording

BACKGROUND: Recently, carbon fibers have been utilized to develop a depth-type microelectrode array for chronic neural recording. Since the diameter of carbon fibers is smaller than the conventional electrodes made of metal wires or microfabricated silicon, the carbon fiber electrodes showed an improved capability for chronic neural recording with less tissue damages. However, the carbon fiber based microelectrodes have a limitation of short insertion depth due to a low stiffness. METHODS: We proposed a carbon fiber based microelectrode array embedded with a mechanical support structure to facilitate the penetration into the deeper brain. The support is made of biodegradable silk fibroin to reduce the reactive tissue responses. The 4-channel carbon fiber based microelectrode arrays were fabricated and accessed in terms of electrochemical impedance, recording capability for 1-month implantation in rat hippocampi. The electrodes with tungsten supports were fabricated and tested as a control group. Immunohistochemical analysis was performed to identify the reactive glial responses. RESULTS: The carbon fiber based electrode arrays with silk supports showed about 2-fold impedance increase 2 weeks after implantation while the number of active electrodes decreased simultaneously. However, after 1 month, the electrode impedance decreased back to its initial value and the percentage of active electrodes also increased above 70%. Immunohistochemical staining clearly showed that the electrodes with silk supports induced less reactive glial responses than that with tungsten supports. CONCLUSION: The proposed carbon fiber based microelectrode array is expected to be used for long-term in vivo neural recording from deep brain regions with the minimized reactive tissue response.

Identification of Potocki–Lupski syndrome in patients with developmental delay and growth failure

PURPOSE@#Potocki–Lupski syndrome (PTLS), is a recently identified, rare genomic disorder. The patients are affected by infantile hypotonia, poor growth and developmental delay. Facial dysmorphism may not be obvious in some patients. PTLS is associated with microduplication at chromosome 17p11.2. In the current study, three Korean patients are reported with their clinical and genetic features.@*MATERIALS AND METHODS@#The clinical findings of each patient were reviewed. Karyotyping and multiplex ligation-dependent probe amplification (MLPA) analyses were done for genetic diagnoses.@*RESULTS@#All the patients did not have the characteristic dysmorphic features, such as broad forehead, triangular face, asymmetric smile and palpebral fissures. On the other hand, all three patients were affected by variable degree of developmental delay, poor oral intake, failure to thrive, and language development disorders. Chromosome 17p11.2 duplication was identified by conventional karyotyping analysis only in one patient, whereas the other confirmed by MLPA analyses.@*CONCLUSION@#Delayed development was mostly commonly observed in our patients without distinct dysmorphic facial features. In this respect, genomic screening in patients with developmental delay would identify more cases with PTLS to understand their long-term clinical courses with the development of adequate psychological and rehabilitation education program.

Comparison of dietary behavior and consumption of processed beverage depend on food insecurity status of adolescents in vientiane, Lao PDR / 한국영양학회지

PURPOSE: The purpose of this study was to evaluate the food insecurity status and dietary behavior and examine the association between the food insecurity status and consumption of processed beverage for secondary school students in Vientiane, capital city of Lao PDR. METHODS: The study subjects are 714 students (boys = 307 and girls = 407) in four secondary schools (Chao_Anouvong, Phiavat, Saysetha, and Chansavang) of Vientiane, Lao PDR. Data on study subject's demographic characteristics, dietary behavior, food insecurity, and Mini Dietary Assessment (MDA) index were collected. A “Self-Administered Food Security Survey Module for Children Aged 12 Years and Older” developed by the United States Department of Agriculture (USDA) was used for the food insecurity assessment. RESULTS: As a result, 72.7% of the subjects were in a state of food insecurity, and food security was associated with higher socioeconomic status (higher life satisfaction, higher parent's education attainment, higher item ownership, fewer number of siblings, and having more lunches at the school restaurant than at home). Compared to the food insecurity group, the frequency of breakfast, self-rated diet, and the total score of MDA index were higher in the food security group. On the other hand, multiple logistic regression analysis showed that ‘food security’ was also associated with a higher consumption of processed beverages (OR 1.544; 95% CI 1.078–2.213; p = 0.018). CONCLUSION: Improving the quality of the diet is essential for adolescents in both the food insecurity and food security groups in Lao PDR. Therefore, it is necessary to provide well organized nutrition education and establish adequate nutrition policy for adolescents in Lao PDR.

A Case of Lemierre Syndrome Manifests with Persistent Fever and Neck Stiffness Following Acute Oropharyngeal Infection

Lemierre syndrome is a rare disease involving multiple organs affected by septic emboli following oropharyngeal infection. After the introduction of penicillin in the 1940s, it became a "forgotten" disease. However, due to the development of diagnostic image modalities including neck computed tomography (CT) scan, the number of published reports of Lemierre syndrome and diagnosis has been increasing since the 1990s. In this report, we describe a case of Lemierre syndrome, following oropharyngeal infection in a 16-year-old patient, who manifested with persistent fever and neck stiffness. Neck ultrasonography confirmed thrombus formation in the right internal jugular vein without definite evidence of septic emboli to other organs. After the three-week-long antibiotics therapy was completed, the thrombus in the right internal jugular vein finally disappeared.

Comparison of Healthy Life Style and Chronic Disease Management between Urban and Rural Older Adults / 재활간호학회지

PURPOSE: The purpose of this study was to compare healthy life style and chronic disease management between urban and rural older adults. METHODS: The study employed a comparative and descriptive survey design. Data were collected from 154 older adults living independently in communities (79 from urban and 75 from rural areas) using structured questionaries from 24 July, 2010 to 14 August, 2011. RESULTS: Perceived health status was significantly lower in urban older adults than those in rural areas (chi2=13.27, p = .001). Frequency of regular health examination was better in the urban group than the rural group (chi2=4.71, p = .030). Among older adults with hypertension, medication noncompliance was higher, and participation rate in disease management education was lower in the rural group than the urban group (chi2=6.43, p = .040; chi2=23.51, p<.001, respectively) and the same as arthritis. CONCLUSION: Rural older adults had more problems with health and disease management in this study, might be, due to difficulties in access to health care services than urban residents. More tailored programs of disease management as well as health service programs and staffing should be developed in rural areas. For urban older adults, meal preparation program and more opportunities producing income may be needed.