Two Cases of Multiple Endocrine Neoplasia Type II with RET Mutaion / 임상소아혈액종양

Multiple endocrine neoplasia type 2(MEN2) is a rare autosomal dominant inherited disorder characterized by the presence of medullary thyroid carcinoma, pheochromocytoma and other hyperplasia and/or neoplasia of different endocrine tissues in a single patient. MEN 2 is caused by germline mutations in the RET proto-oncogene is located on the pericentromeric region of chromosome 10 (10q11.2). We present our experience with two rare cases of MEN 2, an 11-years-old girl and a 10-years-old boy. Their parents had medullary thyroid carcinoma and genetic analysis showed the missense mutation of RET. They were screened for mutations in the RET proto-oncogene and RET mutations were found at codons 634 and 641. They were asymptomatic state but the girl had prophylactic total thyroidectomy. Children of families with RET mutations may develop early cancers and require prophylactic thyroidectomy before eight years.

Two Cases of Multiple Endocrine Neoplasia Type II with RET Mutaion / 임상소아혈액종양

Multiple endocrine neoplasia type 2(MEN2) is a rare autosomal dominant inherited disorder characterized by the presence of medullary thyroid carcinoma, pheochromocytoma and other hyperplasia and/or neoplasia of different endocrine tissues in a single patient. MEN 2 is caused by germline mutations in the RET proto-oncogene is located on the pericentromeric region of chromosome 10 (10q11.2). We present our experience with two rare cases of MEN 2, an 11-years-old girl and a 10-years-old boy. Their parents had medullary thyroid carcinoma and genetic analysis showed the missense mutation of RET. They were screened for mutations in the RET proto-oncogene and RET mutations were found at codons 634 and 641. They were asymptomatic state but the girl had prophylactic total thyroidectomy. Children of families with RET mutations may develop early cancers and require prophylactic thyroidectomy before eight years.

Efficacy and Tolerability of Valproic Acid Once Daily Dosing for Juvenile Myoclonic Epilepsy / 대한소아신경학회지

PURPOSE: The aim of the this study was to verify the efficacy of the occipital nerve block (ONB) for occipital neuralgia pediatric patients who has tender point around suboccipital area. METHODS: In a retrospective way, 47 pediatric patients with occipital neuralgia were enrolled during July 2005 to July 2013. Diagnosis of occipital neuralgia is made by the International headache society criteria (2004, 2nd edition). We conducted a chart review of all the ONB performed in our clinic over 9 years. Patients were analyzed according to gender, headache type, headache duration and frequency, family history, medication history before ONB, symptoms with headache, recurrence, complications, magnetic resonance imaging scan and electroencephalogram results. Headache was measured before and after the procedure using the visual analog pain indexes. RESULTS: Forty seven (100%) patients were treated with occipital nerve block. Pain indexes were declined in 41 (87.2%) patients, but 6 (12.8%) were not response. Mean visual analog pain index scores declined by 4.7 units. Twenty five (53.2%) patients experienced recurrence of the disorder, but 14 (56.0%) patients were relived without the need for any further treatment. No complications were reported. CONCLUSION: Our data suggests that occipital nerve block was safe and effective treatment for the children with occipital neuralgia.

Ecthyma Gangrenosum Caused by Klebsiella Pneumoniae in Immunocompromised Patient Associated with Severe Aplastic Anemia / 임상소아혈액종양

Ecthyma gangrenosum (EG) is a skin infection that is classically associated with Pseudomonas aeruginosa septicemia in immunocompromised patients with severe neutropenia. Other bacterial, viral, and fungal pathogens also have been implicated in EG. EG is rare condition with characteristic clinical appearance of red macule that progresses to a central area presenting a necrotic black or gray-black eschar with surrounding erythema. The skin lesions usually occur in the gluteal and perineal regions or extremities and widespread over the body. Although the usual outcome is poor, early recognition and appropriate systemic antibiotic treatment can lead to successful outcome. Therefore, we describe a case of EG associated with Klebsiella pneimoniae in a 15-year-old patient with severe aplastic anemia and review the literature.

Ecthyma Gangrenosum Caused by Klebsiella Pneumoniae in Immunocompromised Patient Associated with Severe Aplastic Anemia / 임상소아혈액종양

Ecthyma gangrenosum (EG) is a skin infection that is classically associated with Pseudomonas aeruginosa septicemia in immunocompromised patients with severe neutropenia. Other bacterial, viral, and fungal pathogens also have been implicated in EG. EG is rare condition with characteristic clinical appearance of red macule that progresses to a central area presenting a necrotic black or gray-black eschar with surrounding erythema. The skin lesions usually occur in the gluteal and perineal regions or extremities and widespread over the body. Although the usual outcome is poor, early recognition and appropriate systemic antibiotic treatment can lead to successful outcome. Therefore, we describe a case of EG associated with Klebsiella pneimoniae in a 15-year-old patient with severe aplastic anemia and review the literature.

Dietary Assessment Using Dietary Pattern Analysis of Middle School Students in Seoul

The objectives of this study were to identify dietary patterns of Korean middle school students and to investigate the characteristics of dietary intake of subjects with different dietary pattern. Three-day diet records were obtained from 163 male and 155 female 7th graders in Seoul, Korea. Food items from the diet records were aggregated into 22 food groups before subjected to factor analysis. Four dietary patterns emerged from factor analysis with different factor score. Cluster analysis using factor score classified subjects into three groups named 'Traditional' (n = 42), 'Westernized' (n = 135), and 'Intermediate' (n = 145). Major nutrient intake and dietary quality assessed by NAR (Nutrients Adequacy Ratio), MAR (Mean Adequacy Ratio), DDS (Dietary Diversity Score), and DVS (Dietary Variety Score) of the three groups were compared. Mean energy intakes of three groups were 1783, 1916, 1578 kcal in Traditional, Westernized, and Intermediate diet group respectively. Differences in nutrient intake of the groups were significant in all nutrients except vitamin B1. Percent energy from fat was significantly higher in Westernized and Intermediate diet group, and cholesterol intake of Westernized diet group was higher than 300 mg. NARs of most nutrients were higher in Traditional and Westernized than Intermediate diet group except vitamin E. Traditional and Westernized diet groups had the highest MAR of fourteen nutrients. DDS was the highest in Westernized and DVS was the highest in Traditional and Westernized diet group. Traditional diet groups had 22% of energy consumption from breakfast, significantly higher than other diet groups. In conclusion, these results suggest that Korean teenagers with Traditional diet pattern have lower diet in % energy from fat, diversity of food and regularity of meals. Future studies need to focus on the relationship between dietary patterns and health status of Korean teenagers.