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

We report a case of a 34-year-old woman who was in temporary delirium and hyperammonemia during treatment of bipolar affective disorder with valproate. Patient showed delirium after 20 days of treatment, while the serum valproate level was within the therapeutic range without any sign of hepatic insufficiency. However, the patient had increased serum ammonia level (121 microg/mL), and valproate was discontinued due to suspicion of valproate-induced hyperammonemic encephalopathy (VHE). Serum valproate level was normalized with reduced delirium after valproate has been discontinued. Few VHE in psychiatric literature has been documented, because of possible confusion between VHE and preexisting psychiatric symptoms. Clinicians should be cautious about the potential risk for hyperammonemic encephalopathy caused by valproate medication.
Adult ; Ammonia ; Delirium ; Female ; Hepatic Insufficiency ; Humans ; Hyperammonemia ; Mood Disorders ; Valproic Acid

BACKGROUND: Radiation therapy (RT) including tomotherapy has been widely used to treat primary tumors, as well as to alleviate the symptoms of metastatic cancers. OBJECTIVE: The primary purpose of this study was to examine the characteristics of the clinical features and pathophysiological mechanisms associated with acute radiation dermatitis in cancer patients that received tomotherapy, and compare the results to patients treated by conventional radiation therapy. METHODS: The study population consisted of 11 patients that were referred to the dermatology department because of radiation dermatitis after receiving tomotherapy; all patients were evaluated for clinical severity. The patients were assessed and identified using the National Cancer Institute Common Toxicity Criteria version (CTC) 3.0. We performed biopsies of the skin lesions that were examined for apoptosis using the terminal deoxynucleotidyl transferase-mediated deoxyuridine triphosphate nick end-labelling (TUNEL) assay and stained immunohistochemically with monoclonal antibodies to CD8, CD4 and TGF-beta. As a positive control, patients with radiation dermatitis treated with conventional radiation therapy were also studied. RESULTS: The results of the clinical features of the skin of tomotherapy patients were the following: grade 1 (36%), grade 2 (55%) and other changes (9%). Among the population that had skin lesions due to acute radiation dermatitis, the mean number of positive cells per high power field (HPF) was the following: there were 30.50+/-.50 TUNEL- positive cells, 34.60+/-12.50 CD8+ T cells, 5.19+/-3.17 CD4+T cells and 9.95+/-1.33 TGF-beta positive cells measured per HPF. The mean number of positive cells per HPF for the patients that received conventional radiation therapy was: TUNLEL-positive cells in 7.5+/-1.64, CD8-, CD4- and TGF-beta-positive cells in 12.50+/-3.73, 3.16+/- 1.47, 6.50+/-1.97. CONCLUSION: We found that the number of TUNEL-positive cells and CD8+ T cells were higher in the lesions of patients receiving tomotherapy compared to the lesions of the patients receiving conventional radiation therapy. These findings suggest that tomotherapy without dose modification may cause significantly more severe forms of radiation dermatitis by apoptosis and cytotoxic immune responses than conventional radiation therapy.
Antibodies, Monoclonal ; Apoptosis ; Biopsy ; Deoxyuracil Nucleotides ; Deoxyuridine ; Dermatitis ; Dermatology ; Humans ; National Cancer Institute (U.S.) ; Skin ; T-Lymphocytes ; Transforming Growth Factor beta

Kabuki syndrome (KS) is a rare genetic disease with a distinctive dysmorphic face, intellectual disability, and multiple congenital abnormalities. KS is inherited in an autosomal dominant manner. As the primary cause of KS, MLL2 mutations have been identified in 56-76% of affected individuals who have been tested, suggesting that there may be additional genes associated with KS. Recently, a few KS individuals have been found to have de novo partial or complete deletions of an X chromosome gene, KDM6A, which encodes a histone demethylase that interacts with MLL2. Nevertheless, mutations in MLL2 are the major cause of KS. Although there are a few reports of KS patients in Korea, none of these had been confirmed by genetic analysis. Here, we report a case of a Korean patient with clinical features of KS. Using direct sequencing, we identified a frameshift heterozygous mutation for MLL2: (c.5256_5257delGA;p.Lys1753Alafs*34). Clinically, the patient presented with typical facial features, and diagnosis of KS was based on the diagnostic criteria. While KS is a rare disease, other malformations that overlap with those found in individuals with KS are common. Hence, the diagnosis of KS by mutational analysis can be a valuable method for patients with KS-like syndromes. Furthermore, in the near future, other genes could be identified in patients with KS without a detectable MLL2 mutation.
Abnormalities, Multiple ; Congenital Abnormalities ; Face ; Hematologic Diseases ; Histones ; Humans ; Intellectual Disability ; Korea ; Rare Diseases ; Vestibular Diseases ; X Chromosome

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

PURPOSE: Clinical stage of gastric cancer is currently assessed by computed tomography. Accurate clinical staging is important for the tailoring of therapy. This study evaluated the accuracy of clinical N staging using stomach protocol computed tomography. MATERIALS AND METHODS: Between March 2004 and November 2012, 171 patients with gastric cancer underwent preoperative stomach protocol computed tomography (Jeju National University Hospital; Jeju, Korea). Their demographic and clinical characteristics were reviewed retrospectively. Two radiologists evaluated cN staging using axial and coronal computed tomography images, and cN stage was matched with pathologic results. The diagnostic accuracy of stomach protocol computed tomography for clinical N staging and clinical characteristics associated with diagnostic accuracy were evaluated. RESULTS: The overall accuracy of stomach protocol computed tomography for cN staging was 63.2%. Computed tomography images of slice thickness 3.0 mm had a sensitivity of 60.0%; a specificity of 89.6%; an accuracy of 78.4%; and a positive predictive value of 78.0% in detecting lymph node metastases. Underestimation of cN stage was associated with larger tumor size (P<0.001), undifferentiated type (P=0.003), diffuse type (P=0.020), more advanced pathologic stage (P<0.001), and larger numbers of harvested and metastatic lymph nodes (P<0.001 each). Tumor differentiation was an independent factor affecting underestimation by computed tomography (P=0.045). CONCLUSIONS: Computed tomography with a size criterion of 8 mm is highly specific but relatively insensitive in detecting nodal metastases. Physicians should keep in mind that computed tomography may not be an appropriate tool to detect nodal metastases for choosing appropriate treatment.
Humans ; Lymph Nodes ; Neoplasm Metastasis ; Neoplasm Staging ; Retrospective Studies ; Sensitivity and Specificity ; Stomach ; Stomach Neoplasms ; Technology, Radiologic

PURPOSE: Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is rare lysosomal storage disorder caused by N-acetylgalactosamine-6-sulfatase (GALNS) deficiency. Only a few MPS IVA cases have been reported in the Korean literature; there is a paucity of research about clinical or radiologic findings for this disorder. Therefore, we studied clinical findings, radiological features, and genetic data of Korean MPS IVA patients for determining factors that may allow early diagnosis and that may thus improve the patients' quality of life. METHODS: MPS IVA was confirmed via assay for enzymatic activity of leukocytes in 10 patients. The GALNS gene was analyzed. Patients' charts were retrospectively reviewed for obtaining clinical features and evaluated for radiological skeletal surveys, echocardiography, pulmonary function test, and ophthalmologic test results. RESULTS: Nine patients had severe clinical phenotype, and 1 had an intermediate phenotype, on the basis of clinical phenotype criteria. Radiologic findings indicated skeletal abnormalities in all patients, especially in the hips and extremities. Eight patients had an odontoid hypoplasia, and 1 showed mild atlantoaxial subluxation and cord myelopathy. Genetic analysis indicated 10 different GALNS mutations. Two mutations, c.451C>A and c.1000C>T, account for 37.5% (6/16) and 25% (4/16) of all mutations in this samples, respectively. CONCLUSION: An understanding of the clinical and radiological features involved in MPS IVA may allow early diagnosis of MPS IVA. Adequate evaluations and therapy in the early stages may improve the quality of life of patients suffering from skeletal abnormalities and may reduce life-threatening effects of atlantoaxial subluxation.
Early Diagnosis ; Echocardiography ; Extremities ; Hip ; Humans ; Leukocytes ; Mucopolysaccharidoses ; Mucopolysaccharidosis IV ; Phenotype ; Quality of Life ; Respiratory Function Tests ; Retrospective Studies ; Spinal Cord Diseases ; Stress, Psychological

Osteogenesis imperfecta (OI) comprises a heterogeneous group of disorders characterized by bone fragility, frequent fractures, and low bone mass. Dominantly inherited COL1A1 or COL1A2 mutations appear to be causative in the majority of OI types, but rare recessively inherited genes have also been reported. Recently, SERPINF1 has been reported as another causative gene in OI type VI. To date, only eight SERPINF1 mutations have been reported and all are homozygous. Our patient showed no abnormalities at birth, frequent fractures, osteopenia, and poor response on pamidronate therapy. At the time of her most recent evaluation, she was 8 yr old, and could not walk independently due to frequent lower-extremity fractures, resulting in severe deformity. No clinical signs were seen of hearing impairment, blue sclera, or dentinogenesis imperfecta. In this study, we describe the clinical and radiological findings of one Korean patient with novel compound heterozygous mutations (c.77dupC and c.421dupC) of SERPINF1.
Bone Density/genetics ; Child ; Collagen Type I/genetics ; Eye Proteins/*genetics ; Female ; Fractures, Bone/genetics ; Humans ; Nerve Growth Factors/*genetics ; Osteogenesis Imperfecta/diagnosis/*genetics ; Serpins/*genetics

OBJECTIVES: Study aimed to identify factors that may affect family burden and quality of life (QOL) of primary caregivers in schizophrenia family. METHODS: Among outpatients with schizophrenia undergoing treatment at the psychiatric department of a university hospital, 72 patients and their primary caregivers were investigated. Sociodemographic and clinical data were collected and analyzed. RESULTS: As a result of multiple regression of primary caregivers’ family burden (R²=0.284), primary caregiver’s income (p=0.001) and patient’s delusional symptoms (p=0.001) significantly explained the total family burden of primary caregivers. In multiple regression on QOL (R²=0.515), primary caregiver’s income (p=0.033) and education level (p=0.006), patient’s sex (p=0.006), treatment duration (p<0.001), degree of disorganized speech (p=0.008), negative drug attitudes (p=0.026) and the attitude of overcoming stigma against mental patients (p=0.029) all significantly explained the average QOL score. CONCLUSION: Various factors determining primary caregiver’s QOL, including Clinical symptoms such as patient’s disorganized speech and clinically correctable factors such as negative drug attitude and insight into disease. Therefore, provision of education regarding drug and disease for patients and caregivers will be helpful to effectively reduce burden and improve the QOL of primary caregivers.
Caregivers ; Delusions ; Education ; Humans ; Mentally Ill Persons ; Outpatients ; Quality of Life* ; Schizophrenia*