Three pediatric patients with primary hyperparathyroidism caused by parathyroid adenoma

Oh Arum,Lee Yena,Yoo Han-Wook,최진호 대한소아내분비학회 2022 Annals of Pediatirc Endocrinology & Metabolism Vol.27 No.2

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.

Three pediatric patients with primary hyperparathyroidism caused by parathyroid adenoma

Oh Arum,Lee Yena,Yoo Han-Wook,Choi Jin-Ho 대한소아내분비학회 2022 Apem Vol.27 No.2

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.

Chitosan-Coated Fe₃O₄ Magnetic Nanoparticles as Carrier of Cisplatin for Drug Delivery

Arum, Yosefine,Oh, Yun-Ok,Kang, Hyun Wook,Ahn, Seok-Hwan,Oh, Junghwan The Korean Society of Fisheries and Aquatic Scienc 2015 Fisheries and Aquatic Sciences Vol.18 No.1

A synthesis method for a chitosan-coated magnetic drug-delivery system of cisplatin is proposed. Here, cisplatin was conjugated to the surface of Magnetite ($Fe_3O_4$) nanoparticles via a (3-Aminopropyl)-trimethoxysilane (APTS) coupling agent. To reduce the cytotoxic effect of cisplatin, the magnetic drug was then encapsulated in chitosan (CS-cisplatin-$Fe_3O_4$) through the water/oil (W/O) emulsion method. The CS-cisplatin-$Fe_3O_4$ nanoparticles were synthesized in a spherical shape with a diameter of 190 nm. The cytotoxicity assay was performed using HeLa cells. The cisplatin uptake of the cells was determined using High Performance Liquid Chromatography (HPLC) to calculate the drug content. The controlled release of cisplatin was demonstrated by regulating the dissolution and diffusion of the drug through the chitosan matrix.

Original Article : Chitosan-Coated Fe3O4 Magnetic Nanoparticles as Carrier of Cisplatin for Drug Delivery

( Yosefine Arum ),( Yun Ok Oh ),( Hyun Wook Kang ),( Seok Hwan Ahn ),( Jung Hwan Oh ) 한국수산과학회(구 한국수산학회) 2015 Fisheries and Aquatic Sciences Vol.18 No.1

A synthesis method for a chitosan-coated magnetic drug-delivery system of cisplatin is proposed. Here, cisplatin was conjugated to the surface of Magnetite (Fe3O4) nanoparticles via a (3-Aminopropyl)-trimethoxysilane (APTS) coupling agent. To reduce the cytotoxic effect of cisplatin, the magnetic drug was then encapsulated in chitosan (CS-cisplatin-Fe3O4) through the water/oil (W/O) emulsion method. The CS-cisplatin-Fe3O4 nanoparticles were synthesized in a spherical shape with a diameter of 190 nm. The cytotoxicity assay was performed using HeLa cells. The cisplatin uptake of the cells was determined using High Performance Liquid Chromatography (HPLC) to calculate the drug content. The controlled release of cisplatin was demonstrated by regulating the dissolution and diffusion of the drug through the chitosan matrix.

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

Yu Sae Bit,Lee Yena,Oh Arum,Yoo Han-Wook,최진호 대한소아내분비학회 2020 Annals of Pediatirc Endocrinology & Metabolism Vol.25 No.2

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 pseudo-obstruction (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.

Controlling the optimum dose of AMPTS functionalized-magnetite nanoparticles for hyperthermia cancer therapy

Arum, Yosefine,Song, Youngjin,Oh, Junghwan Springer-Verlag 2011 Applied nanoscience Vol.1 No.4

Two Pediatric Patients with Herbal Medicine-Induced Nephrotic Syndrome

Sohyoung Yang,Arum Oh,하태선 대한소아신장학회 2015 Childhood kidney diseases Vol.19 No.2

Nephrotic syndrome (NS) is a common chronic disease in children; in 90 percent of cases, the condition is primary (idiopathic). Toxic nephropathy can be induced by herbal medicines, and is mainly manifested as tubulointerstitial nephritis and rarely, as glomerulopathy. Here in, we describe two cases of steroid-sensitive NS, which developed after the patients received herbal medicines. A 5-year-old boy and an 8-year-old girl were separately admitted within a short time period with acute onset of generalized edema, proteinuria, hypoalbuminemia, and hypercholesterolemia. Each patient had previously taken herbal medicine, which had been prescribed by different oriental medical clinics for different conditions. The patients were diagnosed with herbal medicine-induced NS and were treated empirically by a standard steroid therapy, with subsequent resolution of their NS. One patient relapsed, but her NS again responded to steroid therapy. We described two unusual cases of prototypical pediatric, steroid-sensitive NS, which was presumed to be minimal-change disease that developed after the administration of herbal medicines. We also reviewed the literature.

Two Pediatric Patients with Herbal Medicine-Induced Nephrotic Syndrome

Yang, Sohyoung,Oh, Arum,Ha, Tae-Sun Korean Society of Pediatric Nephrology 2015 Childhood kidney diseases Vol.19 No.2

Nephrotic syndrome (NS) is a common chronic disease in children; in 90 percent of cases, the condition is primary (idiopathic). Toxic nephropathy can be induced by herbal medicines, and is mainly manifested as tubulointerstitial nephritis and rarely, as glomerulopathy. Here in, we describe two cases of steroid-sensitive NS, which developed after the patients received herbal medicines. A 5-year-old boy and an 8-year-old girl were separately admitted within a short time period with acute onset of generalized edema, proteinuria, hypoalbuminemia, and hypercholesterolemia. Each patient had previously taken herbal medicine, which had been prescribed by different oriental medical clinics for different conditions. The patients were diagnosed with herbal medicine-induced NS and were treated empirically by a standard steroid therapy, with subsequent resolution of their NS. One patient relapsed, but her NS again responded to steroid therapy. We described two unusual cases of prototypical pediatric, steroid-sensitive NS, which was presumed to be minimal-change disease that developed after the administration of herbal medicines. We also reviewed the literature.

An ANKRD11 exonic deletion accompanied by a congenital megacolon in an infant with KBG syndrome

Seo, Go Hun,Oh, Arum,Kang, Minji,Kim, Eun Na,Jang, Ja-Hyun,Kim, Dae Yeon,Kim, Kyung Mo,Yoo, Han-Wook,Lee, Beom Hee Korean Society of Medical Genetics and Genomics 2019 대한의학유전학회지 Vol.16 No.1

KBG syndrome is an autosomal dominant syndrome presenting with macrodontia, distinctive facial features, skeletal anomalies, and neurological problems caused by mutations in the ankyrin repeat domain 11 (ANKRD11) gene. The diagnosis of KBG is difficult in very young infants as the characteristic macrodontia and typical facial features are not obvious. The youngest patient diagnosed to date was almost one year of age. We here describe a 2-month-old Korean boy with distinctive craniofacial features but without any evidence of macrodontia due to his very early age. He also had a congenital megacolon without ganglion cells in the rectum. A de novo deletion of exons 5-9 of the ANKRD11 gene was identified in this patient by exome sequencing and real-time genomic polymerase chain reaction. As ANKRD11 is involved in the development of myenteric plexus, a bowel movement disorder including a congenital megacolon is not surprising in a patient with KBG syndrome and has possibly been overlooked in past cases.

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

Lee Yena,최진호,Oh Arum,Kim Gu-Hwan,Park Sook-Hyun,Moon Jung Eun,Ko Cheol Woo,Cheon Chong-Kun,Yoo Han-Wook 대한소아내분비학회 2020 Annals of Pediatirc Endocrinology & Metabolism Vol.25 No.2

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.