PURPOSE: Differences in phenotypes between the two most common subtypes of Prader-Willi syndrome (PWS) indicate that a distinct response to growth hormone (GH) treatment may exist. To test this hypothesis, we compared the results of GH treatment in individuals with PWS due to uniparental disomy (UPD) to those of individuals with deletions. METHODS: Sixty-five children with PWS who had been treated with GH for more than two years were included in this study. Twenty-one individuals were confirmed as having UPD and 44 individuals had a deletion. Height, body weight, body mass index (BMI), and insulin like growth factor-1 (IGF-I) measurements were recorded before GH treatment and at intervals of 12 months thereafter. RESULTS: After two years of GH therapy, no significant differences were noted for yearly improvements in height standard deviation scores (SDS) between the groups (second year SDS, 0.93 +/- 0.94; deletion, 0.84 +/- 1.31; UPD, P = 0.717). Body weight SDS, BMI SDS, and IGF-I SDS also showed no differences between the two groups. CONCLUSION: Our study showed no significant differences in yearly improvements in height SDS between the deletion and UPD groups, at least for the first two years.
Body Height ; Body Weight ; Child ; Genotype ; Growth Hormone ; Humans ; Insulin ; Insulin-Like Growth Factor I ; Phenotype ; Prader-Willi Syndrome ; Sequence Deletion ; Uniparental Disomy

PURPOSE: Differences in phenotypes between the two most common subtypes of Prader-Willi syndrome (PWS) indicate that a distinct response to growth hormone (GH) treatment may exist. To test this hypothesis, we compared the results of GH treatment in individuals with PWS due to uniparental disomy (UPD) to those of individuals with deletions. METHODS: Sixty-five children with PWS who had been treated with GH for more than two years were included in this study. Twenty-one individuals were confirmed as having UPD and 44 individuals had a deletion. Height, body weight, body mass index (BMI), and insulin like growth factor-1 (IGF-I) measurements were recorded before GH treatment and at intervals of 12 months thereafter. RESULTS: After two years of GH therapy, no significant differences were noted for yearly improvements in height standard deviation scores (SDS) between the groups (second year SDS, 0.93 +/- 0.94; deletion, 0.84 +/- 1.31; UPD, P = 0.717). Body weight SDS, BMI SDS, and IGF-I SDS also showed no differences between the two groups. CONCLUSION: Our study showed no significant differences in yearly improvements in height SDS between the deletion and UPD groups, at least for the first two years.
Body Height ; Body Weight ; Child ; Genotype ; Growth Hormone ; Humans ; Insulin ; Insulin-Like Growth Factor I ; Phenotype ; Prader-Willi Syndrome ; Sequence Deletion ; Uniparental Disomy

Clear cell renal cell carcinoma (ccRCC) is a disease with a wide variety of clinical progressions such as the rate of disease progression or the degree of metastasis. About 30% of ccRCC patients suffer from metastatic diseases, and about 30% develop metastasis after diagnosis. In the case of metastatic RCC, early prediction of the disease is important because of the poor prognosis, but ccRCC-specific molecular markers for clinical use are not available yet. As an alternative, liquid biopsy, which can find molecules released from tumor tissues in circulating blood and obtain information on metastatic dissemination and recurrence of ccRCC, is emerging. In this article, we will introduce molecules such as cell free DNA, cell free RNA, protein, and exosomes available as circulating biomarkers for liquid biopsy. We will also introduce some promising technologies that can compensate for the limitations of liquid biopsy.

The most common finding related to nonalcoholic steatohepatitis is obesity, but a status of severe malnutrition can also induce the steatohepatitis. The authors report a rare case of steatohepatitis leading to hepatic decompensation caused by malnutrition after pancreaticoduodenectomy. A 68-year-old female patient who had been previously diagnosed with pancreatic cancer and had undergone pancreaticoduodenectomy 5 months previously presented with abdominal distension. Routine CT performed 3 months after the surgery revealed severe fatty liver without evidence of tumor recurrence. After undergoing pancreaticoduodenectomy her food intake had reduced, and as a result she had lost 7 kg of body weight over 2 months. At this admission, CT revealed moderate amounts of ascites without tumor recurrence. Furthermore, her albumin and lipid profile levels were markedly decreased, and she had a flapping tremor and slurred speech suggestive of hepatic encephalopathy. Her liver biopsy findings were consistent with steatohepatitis and disclosed macrovesicular steatosis without definite fibrosis. After careful nutritional control, her symptoms disappeared and her laboratory findings improved.
Aged ; Ascites/etiology ; Fatty Liver/*diagnosis/etiology/pathology ; Female ; Humans ; Liver Function Tests ; Malnutrition/*complications ; Pancreatic Neoplasms/surgery ; Pancreaticoduodenectomy ; Tomography, X-Ray Computed

Excessive exposure to several metallic elements is known to produce a variety of nephrotoxic syndromes such as glomerulonephritis, nephrotic syndrome, interstitial nephritis, structural and functional abnormalities of proximal tubule resembling the Fanconi's syndrome and acute tubular necrosis. Although the pulmonary toxicities of silicon are relatively well documented as a cause of silicoproteinosis and lung fibrosis after acute and chronic exposure to free silica(SiO2), but is little known about the nephrotoxicity of this trace element. Clinical manifestations of silicon nephropathy are similar to other heavy metal nephropathy as proteinuria, hematuria, active urinary sediments and renal failure. Diagnosis of silicon nephropathy is based on distinct exposure history to silica, variable degree of renal dysfunction and characteristic histologic findings such as cytoplasmic vacuoles and dense membrane-enclosed cytoplasmic bodies which is resembling lysosomes in proximal tubular cells. A 26-year-old man with ingestion of silicon compound(SiO2-NaOCO3) developed acute renal failure due to acute tubular necrosis. And he was recovered with conservative management to acute renal failure. So we report this case with a brief review of literature.
Acute Kidney Injury* ; Adult ; Cytoplasm ; Diagnosis ; Eating* ; Fibrosis ; Glomerulonephritis ; Hematuria ; Humans ; Lung ; Lysosomes ; Necrosis ; Nephritis, Interstitial ; Nephrotic Syndrome ; Proteinuria ; Renal Insufficiency ; Silicon Dioxide ; Silicon* ; Vacuoles

Cystic lymphangioma of the spleen is extremely rare disease and the treatment is always surgical. In the present report we describe a symptomatic splenic cystic lymphangioma in a 44 year-old female. Clinical examination revealed palpable mass in the left upper quadrant of the abdomen. Abdominal CT scan revealed enlarged spleen with multiple, variable sized cysts. A few cysts had peripheral calcification. Open splenectomy was performed and histologic examination permitted the accurate diagnosis to be made. In case of multiple cystic enlargement of spleen, consider the possibility of cystic lymphangioma of the spleen and splenectomy.
Abdomen ; Adult ; Diagnosis ; Female ; Humans ; Lymphangioma, Cystic* ; Rare Diseases ; Spleen* ; Splenectomy ; Splenomegaly ; Tomography, X-Ray Computed

OBJECTIVE: Patients with schizophrenia who are treated with aripiprazole experience some benefits including an improvement of social competence, but the underlying mechanism of this improvement has not been investigated yet. This study aimed to provide preliminary evidence that the GABA system may be involved in the effect of aripiprazole on social competence. METHODS: Seventeen outpatients with schizophrenia (9 taking aripiprazole and 8 taking risperidone) and 18 healthy controls underwent 18F-fluoroflumazenil PET, and GABAA receptor binding potential was compared between the three groups. RESULTS: Voxelwise one-way ANOVA showed that GABAA receptor binding potentials in the right medial prefrontal cortex (p=0.04) and right dorsolateral prefrontal cortex (p=0.02) were significantly lower in the aripiprazole group than the risperidone group, and those in the left frontopolar cortex (p=0.03) and right premotor cortex (p=0.02) were significantly lower in the aripiprazole group than the risperidone and control groups. CONCLUSION: Our results suggest that aripiprazole administration results in increased GABA transmission in the prefrontal regions, and that these increases may be a neural basis of aripiprazole's clinical benefits on an improvement of social competence.
gamma-Aminobutyric Acid ; Humans ; Mental Competency ; Outpatients ; Piperazines ; Prefrontal Cortex ; Quinolones ; Risperidone ; Schizophrenia ; Aripiprazole

PURPOSE: Precocious puberty is defined as breast development before the age of 8 years in girls. The present study aimed to reveal the diagnosis of Korean girls referred for precocious puberty and to compare the constitutional and endocrinological features among diagnosis groups. METHODS: The present study used a retrospective chart review of 988 Korean girls who had visited a pediatric endocrinology clinic from 2006 to 2010 for the evaluation of precocious puberty. Study groups comprised fast puberty, true precocious puberty (PP), pseudo PP, premature thelarche, and control. We determined the height standard deviation score (HSDS), weight standard deviation score (WSDS), and body mass index standard deviation score (BMISDS) of each group using the published 2007 Korean growth charts. Hormone tests were performed at our outpatient clinic. RESULTS: The PP groups comprised fast puberty (67%), premature thelarche (17%), true PP (15%), and pseudo PP (1%). Advanced bone age and levels of estradiol, basal luteinizing hormone (LH), and peak LH after gonadotropin-releasing hormone stimulation testing were significantly high in the fast puberty and true PP groups compared with the control group. HSDS, WSDS, and BMISDS were significantly higher in the true PP group than in the control group (P<0.05). CONCLUSION: The frequent causes of PP were found to be fast puberty, true PP, and premature thelarche. Furthermore, BMISDS were significantly elevated in the true PP group. Therefore, we emphasize the need for regular follow-up of girls who are heavier or taller than others in the same age group.
Body Mass Index ; Breast ; Endocrinology ; Estradiol ; Gonadotropin-Releasing Hormone ; Growth Charts ; Humans ; Luteinizing Hormone ; Outpatients ; Puberty ; Puberty, Precocious ; Retrospective Studies ; Sexual Maturation

Up to 1937, 357 cases of tongue tuberculosis had been reported. However, Since potent antituberculosis drugs had been introduced, the incidence of oral tuberculosis lesions has been dramatically decreased. This might be related to the marked vascularity of the tongue which enables a high concentration of the drug to be reached to the lesion. Both the primary and secondary types of tuberculosis can be revealed in the oral cavity. In the primary type, the causative organisms are directly inoculated in the oral mucosa of a person who has never been tuberculosis earlier and who has not acquired an immunity to the disease, In the secondary type, tuberculosis of the oral cavity is coexistent with pulmonary disease. We report a case of tongue tuberculosis with pulmonary tuberculosis, with a review of literature.
Humans ; Incidence ; Lung Diseases ; Mouth ; Mouth Mucosa ; Tongue* ; Tuberculosis* ; Tuberculosis, Oral ; Tuberculosis, Pulmonary*

Pregnancy-associated breast cancer is defined as that occurring during pregnancy or within 1 year after delivery. The incidence of pregnancy-associated breast cancer is 0.2% to 3.8%. Tenderness, engorgement, increased size and increased prominence of the glandular tissue during pregnancy and lactation make mammography and clinical breast examination uncomfortable for the patient and less accurate for the detection of an abnormal breast mass. Pregnancy-associated breast cancer tends to be diagnosed at a more advanced stage, with an attendant adverse prognosis, than in women who are not pregnant or lactating. So physicians should perform a thorough breast examination at the first prenatal visit and maintain a high index of suspicion for cancer. We experienced 2 cases of pregnancy-associated breast cancer patients and reported these cases with a brief review of literature.
Breast Neoplasms* ; Breast* ; Female ; Humans ; Incidence ; Lactation ; Mammography ; Pregnancy ; Prognosis