Glycogen storage diseases(GSD) are inherited disorders affecting glycogen metabolism and type I GSD is due to the absence or deficiency of glucose-6-phosphatase(G6Pase) enzyme in the liver, kidney, and intestinal mucosa. The defect leads to inadequate hepatic conversion of G6P to glucose and thus make affected individuals susceptible to fasting hypoglycemia, and the accumulation of glycogen occurs in the liver and other organs. Type Ia is the most common form of GSD and clinically growth retardation may manifest of GSD itself rather than growth hormone deficiency(GHD), but we experienced a case of type I GSD with GHD in a 14-year-o1d male. The height was 125 cm, compatible with 50 th percentile of height of 8 years of age. He has doll-like face with fat cheek, relatively thin extremities, and metabolic acidosis, hyperuricemia, hypoglycemia, hyperlipidemia. GH stimulation test with clonidine and L-dopa revealed that the patient had decreased GH secretion. After laboratory work up including liver biopsy, he was diagnosed as type I GSD. Hypoglycemia was managed with frequent feeding with high starch diet(uncooked cornstarch). Metabolic acidosis and hyperuricemia were treated with sodium bicarbonate, allopurinol and probenecid. The patient is being followed at out-patient clinic with clinical improvement after of diet therapy and GH administration.
Acidosis ; Allopurinol ; Biopsy ; Cheek ; Clonidine ; Diet Therapy ; Extremities ; Glucose ; Glycogen Storage Disease* ; Glycogen* ; Growth Hormone* ; Humans ; Hyperlipidemias ; Hyperuricemia ; Hypoglycemia ; Intestinal Mucosa ; Kidney ; Levodopa ; Liver ; Male ; Metabolism ; Outpatients ; Probenecid ; Sodium Bicarbonate ; Starch

Involvement of the vena cava by direct vascular extension of renal cell carcinoma occurs in approximately 5% of patients undergoing nephrectomy for this neoplasm. While successful, removal of caval neoplastic thrombi has been reported occasionally, it has been general impression that renal cell carcinoma extending into the vena cava carried an extremely poor prognosis. A 45 years-old male patient was admitted with painless gross hematuria and palpable mass on fight upper quadrant. Surgical exploration was done through 10th thoracoabdominal incision. A right nephrectomy and retroperitoneal lymph node dissection were done for renal cell carcinoma. It was evident on palpation that the tumor was in the It was evident on palpation that the tumor was in the inferior vena cava Partial resection of the inferior vena cava and removal of intra vena cava thrombus were performed. This patient has led a normal life for 18 months following surgery without clinical evidence of tumor. And so, we were presented with review of the literature.
Carcinoma, Renal Cell* ; Hematuria ; Humans ; Lymph Node Excision ; Male ; Middle Aged ; Nephrectomy ; Palpation ; Prognosis ; Thrombosis ; Vena Cava, Inferior*

No abstract available.
Gram-Positive Cocci*

PURPOSE: Patients with type 1 diabetes have difficulty controlling diabetes during adolescence. Active self-management of diabetes in school during adolescence is essential for type 1 diabetic adolescents to successfully adapt to school and shift toward a healthy adulthood. This research examined insulin self-injection in school by diabetic adolescents and the correlation between the control of blood sugar and school adaptation. METHOD: Forty adolescents (aged 10-18 years) who were receiving care for type 1 diabetes in pediatric divisions of two university hospitals in the Incheon and Bucheon area from July 2011 to May 2012 were surveyed. RESULTS: Of the intense insulin treatment group (33/40), self-administration of insulin took place outside (22/33, 67%) and inside (11/33, 33%) restrooms. There was no significant difference in hemoglobin A1c between the two groups (P=0.7). 60% of those that had self-injected themselves within the restroom had not exposed their diabetes with more than 5 friends, while only 23% of those that had self-injected themselves outside the restroom had not exposed their diabetes with more than 5 friends, showing statistic significance between the two groups (P=0.02). There was also a significant difference in the frequency of experiencing depression: 91% for the group with self-injection in the restroom and 45% for the group with self-injection outside the restroom (P=0.02). CONCLUSION: Thirty-three percent of diabetic adolescents administered insulin in the restroom. These diabetic adolescents were reluctant to discuss the disease with others and had a higher frequency of experiencing depression. Thus, schools need to provide active support and care for students with type 1 diabetes.
Adolescent ; Blood Glucose ; Child ; Depression ; Diabetes Mellitus, Type 1 ; Friends ; Hemoglobins ; Hospitals, University ; Humans ; Hypogonadism ; Insulin ; Mitochondrial Diseases ; Ophthalmoplegia ; Self Care

No abstract available.

BACKGROUD: The purpose of our study was to evaluate the usefulness of the ictal semiology, interictal and ictal electro-encephalography(EEG), brain magnetic resonance imaging(MRI), interictal and ictal single photon emission computed tomography(SPECT), positron emission tomography(PET) and neuropsychometry for localization or lateralization of the ictal onset zone, and analyze the result of surgical treatment. METHODS: We evaluated 13 children with intractable temporal lobe epilepsy, who are diagnosed at children's hospital of Seoul National University, from January 1995 to August 1996. The ictal onset zone was determined by ictal semiology, electrophysiologic study, structural and functional neuroimaging, and neuropsychometry. RESULTS: 1) Ictal semiology : Sixty-nine% of the studied children had change of consciousness, 62% had automatism, 31% had aura, 23% had contralateral versive movement, and 23% had contralateral dystonic posturing. Secondarily generalized seizure occured in 38% of them. 2) Interictal EEG showed localized or lateralized value in 8 cases(62%). In interictal EEG, 12 cases(92%) showed epileptiform discharges on the ipsilateral temporal lobe. 3) Magnetic resonance imaging revealed ipsilateral temporal lobe lesion in 8 cases(62%). Interictal SPECT was performed in 6 cases, only one of them had decreased cerebral blood flow on the ipsilateral temporal lobe. Ictal SECT was done in all, 8 cases(67%) had localized or lateralized value. PET was performed in 11 cases, 8 cases(73%) of them had localized or lateralized value. 4) Neuropsychometry was performed in 7 cases, 6 cases(86%) of them had localized or lateralized value. 5) Nine patients underwent epileptic surgery, 6 of them had class I outcome and each one of the rest had class II, class III and class IV. CONCLUSIONS: Electroencephalography, neuropsychometry, MRI, ictal SPECT, and PET are valuable for localization and lateralization of the ictal onset zone, but interictal SPECT is valuless. The outcome after surgery is relatively good, but more extensive study including patient's social, cognitive and emotional status will be necessary.
Automatism ; Brain ; Child* ; Consciousness ; Electroencephalography ; Electrons ; Epilepsy ; Epilepsy, Temporal Lobe* ; Functional Neuroimaging ; Humans ; Magnetic Resonance Imaging ; Seizures ; Seoul ; Temporal Lobe* ; Tomography, Emission-Computed, Single-Photon

No abstract available.

PURPOSE: This study investigated the long-term clinical outcomes of patients with p22(phox)-deficient chronic granulomatous disease (CGD) on Jeju Island and retrospectively evaluated the effects of interferon-gamma (IFN-gamma) prophylaxis. METHODS: The medical records of 15 patients with CGD were retrospectively reviewed. The efficacy of IFN-gamma prophylaxis was evaluated by comparing the frequency of severe infections before and after starting continuous prophylaxis with IFN-gamma. RESULTS: At the time of the analysis, 14 patients were alive, with a median age of 14.3 years. The diagnosis of CGD was made at a median age of 2.4 years, and the median age at onset of severe infection was 0.3 years. Thirteen of the 15 patients had their first severe infection within the first year of life. The overall incidence of severe infection was 1.36 infections per patient-year; pneumonia, suppurative lymphadenitis, and skin and subcutaneous abscesses were the most common infections. Aspergillus species were the most frequently isolated microorganisms, present in 15.8% of isolates. IFN-gamma did not significantly change the rate of severe infection. The survival rate for patients after 2 years of age was 93%; there was a prolonged survival plateau beyond the age of 2. CONCLUSION: Compared with cases of X-linked CGD reported in other studies, patients with CGD on Jeju Island did not show obviously different clinical manifestations, but they had a significantly higher survival rate. Further studies with a substantially longer period of observation, and with more patients under intensive surveillance are necessary to elucidate the prophylactic efficiency of IFN-gamma.
Abscess ; Aspergillus ; Diagnosis ; Granulomatous Disease, Chronic* ; Humans ; Incidence ; Interferon-gamma ; Korea ; Lymphadenitis ; Medical Records ; Pneumonia ; Retrospective Studies ; Skin ; Survival Rate

Pulmonary blastoma is a rare lung tumor resembling fetal lung tissue. Pathologically the tumor can be classified to 2 groups, well-differentiated fetal adenocarcinoma(WDFA) and biphasic blastoma. WDFA has more favorable prognosis with fewer metastasis at initial presentation and fewer recurrence after treatment. We experienced a case of pulmonary blastoma in 32-year-old female patient. The patient was referred to our hospital because of abnormal mass shadow in right middle lobe. The diagnosis of pulmonary blastoma(WDFA type, Stage I T2NOMO) was confirmed after right middle lobectomy. We followed up 22 months without an evidence of recurrence.
Adult ; Diagnosis ; Female ; Humans ; Lung ; Neoplasm Metastasis ; Prognosis ; Pulmonary Blastoma* ; Recurrence

Norwegian scabies is a crusted rash that's caused by a massive infestation with the mite Sarcoptes scabiei. The characteristic skin lesions of this form are gross scaling and hyperkeratotic plaques, and especially on the hands, feet, face, nails and scalp with varying degrees of pruritus. It is often seen in the individuals with human immunodeficiency virus infection, the elderly, immunocompromised patients and institutionalized persons. We report here on a case of Norwegian scabies on an 86-year-old patient who was living in an eldercare hospital, and the patient presented with localized, pruritic, erythematous patches with thick yelolwish crusts on the scalp.
Aged ; Aged, 80 and over ; Exanthema ; Foot ; Hand ; HIV ; Humans ; Immunocompromised Host ; Institutionalization ; Mites ; Nails ; Pruritus ; Sarcoptes scabiei ; Scabies ; Scalp ; Skin