Cytomegalovirus (CMV) is the single most common infection following kidney transplantation and despite prophylactic strategies and the development of new antiviral agents, it still remains a cause of considerable morbidity and mortality. Current literature suggests that CMV infection may trigger rejection. We report a case of late CMV disease in a preemptive seropositive recipient who did not receive CMV prophylaxis. Diarrhea and abdominal cramping persisted after the administration of mycophenolate mofetil (MMF) six months after transplantation and resulted in ileal perforation at eight months after transplantation. The boy recovered after six weeks of treatment with ganciclovir. MMF has been mooted as a risk factor for CMV infection since its introduction, and further investigations are required to confirm its role. More attention to infectious complications is necessary and serial monitoring of viral load is recommended when MMF is administered.
Antiviral Agents ; Colic ; Cytomegalovirus ; Diarrhea ; Ganciclovir ; Kidney ; Kidney Transplantation ; Mycophenolic Acid ; Risk Factors ; Transplants ; Viral Load

Antley-Bixler syndrome (ABS) is a rare form of syndromic craniosynostosis with additional systemic synostosis, including radiohumeral or radioulnar synostosis. Another characteristic feature of ABS is mid-facial hypoplasia that leads to airway narrowing after birth. ABS is associated with mutations in the FGFR2 and POR genes. Patients with POR mutations present with either skeletal manifestations or congenital adrenal hyperplasia with ambiguous genitalia. We report here two cases of ABS caused by mutations in FGFR2 and POR. Although the patients had craniosynostosis and radiohumeral synostosis in common and cranioplasty was performed in both cases, the male with POR mutations showed an elevated level of 17α-hydroxyprogesterone during newborn screening and was diagnosed with congenital adrenal hyperplasia by adrenocorticotropic hormone stimulation. This patient has been treated with hydrocortisone and fludrocortisone. He had no ambiguous genitalia but had bilateral cryptorchidism. On the other hand, the female with the FGFR2 mutation showed severe clinical manifestations: upper airway narrowing leading to tracheostomy, kyphosis of the cervical spine, and coccyx deformity. ABS shows locus heterogeneity, and mutations in two different genes can cause similar craniofacial and skeletal phenotypes. Because the long-term outcomes and inheritance patterns of the disease differ markedly, depending on the causative mutation, early molecular genetic testing is helpful.
Adrenal Hyperplasia, Congenital ; Adrenocorticotropic Hormone ; Antley-Bixler Syndrome Phenotype* ; Coccyx ; Congenital Abnormalities ; Craniosynostoses ; Cryptorchidism ; Disorders of Sex Development ; Female ; Fludrocortisone ; Hand ; Humans ; Hydrocortisone ; Infant, Newborn ; Inheritance Patterns ; Kyphosis ; Male ; Mass Screening ; Molecular Biology ; Parturition ; Phenotype ; Population Characteristics ; Spine ; Synostosis ; Tracheostomy

OBJECTIVE: This study aimed to investigate the neurocognitive functions of patients with late-life depression compared to healthy controls and their association with improvement of depressive symptoms. METHODS: We compared the results of neurocognitive tests between 41 patients with late-life depression and 20 healthy controls at baseline and 3 months later prospectively. And then we investigated the association of change of cognitive function and improvement of depressive symptoms in patients with late-life depression. RESULTS: Patients with late-life depression showed significantly impaired results in neurocognitive tests especially in domains of language, memory and frontal executive function compared to healthy control. However, after 3 months of treatment of depression, there was no association between the change of results of neurocognitive tests and the changes of scores of Hamilton Depression Rating Scale (HAM-D). CONCLUSION: Impairment of cognitive functions in late-life depression includes the domains of language, memory and executive function and after 3 months of treatment of depression, there was no association of improvement of depressive symptom and cognitive change in patients with late-life depression.
Aged* ; Cognition ; Depression* ; Executive Function ; Follow-Up Studies* ; Humans ; Memory ; Prospective Studies

BACKGROUND/AIMS: Angiodysplasia is important in the differential diagnosis of upper gastrointestinal bleeding (UGIB), but the clinical features and outcomes associated with UGIB from angiodysplasia have not been characterized. We aimed to analyze the clinical characteristics and outcomes of angiodysplasia presented as UGIB. METHODS: Between January 2004 and December 2013, a consecutive series of patients admitted with UGIB were retrospectively analyzed. Thirty-five patients with bleeding from angiodysplasia were enrolled. We compared them with an asymptomatic control group (incidental finding of angiodysplasia in health screening, n = 58) and bleeding control group (simultaneous finding of angiodysplasia and peptic ulcer bleeding, n = 28). RESULTS: When patients with UGIB from angiodysplasia were compared with the asymptomatic control group, more frequent rates of nonantral location and large sized lesion (≥ 1 cm) were evident in multivariate analysis. When these patients were compared with the bleeding control group, they were older (mean age: 67.94 ± 9.16 years vs.55.07 ± 13.29 years, p = 0.03) and received less transfusions (p = 0.03). They also had more frequent rate of recurrence (40.0% vs. 20.7%, p = 0.02). CONCLUSIONS: Non-antral location and large lesions (≥ 1 cm) could be risk factors of UGIB of angiodysplasia. UGIB due to angiodysplasia was more common in older patients. Transfusion requirement would be less and a tendency of clinical recurrence might be apparent.
Angiodysplasia* ; Diagnosis, Differential ; Endoscopy ; Hemorrhage* ; Humans ; Mass Screening ; Multivariate Analysis ; Peptic Ulcer ; Recurrence ; Retrospective Studies ; Risk Factors*

OBJECTIVE: Suicide is the leading cause of death in 10–39-year-olds in South Korea, and the second highest rate among the OECD countries. However, few studies have investigated the particularity of completed suicide in South Korea. METHODS: Study subjects consisted of 2,838 suicide cases and 56,758 age and sex matched living controls from a national representative sample of 1,025,340 South Koreans. They were obtained from the Korean National Health Insurance Service-National Sample Cohort (NHIS-NSC) with follow-up up to 12 years. We obtained information on primary diagnosis of any ICD-10 disorder along with suicide cases during their lifetime. RESULTS: Among ICD-10 disorders, depression was the most common disorder (19.10%, n=542), found in victims of completed suicides except for common medical disorders such as hypertensive crisis, respiratory tract infection or arthropathies. After adjusting for sex, age, economic status, disability, and disorders, schizophrenia showed the strongest association with suicide (AOR: 28.56, 95% CI: 19.58–41.66) among all ICD-10 disorders, followed by psoriasis, multiple body injury, epilepsy, sleep disorder, depression, and bipolar disorder. For age groups, ≤19 years was associated with anxiety disorder (AOR=80.65, 95% CI: 13.33–487.93), 20–34 years with epilepsy (AOR=134.92, 95% CI: 33.69–540.37), both 35–49 years (AOR=108.57, 95% CI: 37.17–317.09) and 50–65 years (AOR=189.41 95% CI: 26.59–1349.31), with schizophrenia, and >65 years (AOR=44.7, 95% CI: 8.93–223.63) with psoriasis. CONCLUSION: Psychiatric and physical disorders carried greatly increased risks and numbers of suicides in South Korea. Schizophrenia was the strongest risk factor, especially 35–65 years, and depression was the most common in suicide victims among ICD-10 disorders in South Korea.
Anxiety Disorders ; Bipolar Disorder ; Case-Control Studies ; Cause of Death ; Cohort Studies ; Depression ; Diagnosis ; Epilepsy ; Follow-Up Studies ; Humans ; Insurance, Health ; International Classification of Diseases ; Korea ; National Health Programs ; Organisation for Economic Co-Operation and Development ; Psoriasis ; Respiratory Tract Infections ; Risk Factors ; Schizophrenia ; Sleep Wake Disorders ; Suicide

Angioimmunoblastic lymphadenopathy with dysproteinemia(AILD), first described at early seventies, is a clinico-pathologic syndrome which has common features of lymphadenopathy, hepatosplenomegaly, fever, rash and dysproteinemia. It is a lymphoproliferative disease, differs from malignant lymphoma by the high frequency of constitutional symptoms and by the presence of generalized lymph node enlargement, hepatosplenomegaly, cutaneous menifestations and polyclonal hypergammaglobulinemia at the time of clinical onset. Peripheral T cell lymphomas(PTCL) are morphologically and immunologically heterogeneous group of lymphoproliferative disorders that are composed of postthymic lymphocytes. There are group of cases showing features similar to AILD, and these cases are classified as AILD like PTCL. We report a rare case of AILD like PTCL in an 8 year old boy, who visited Seoul National University Hospital with fever, hepatosplenomegaly and cervical lymphadenopathy, and diagnosed as AILD like PTCL by lymph node biopsy. He did not respond to conventional chemotherapy and died 1 year after clinical onset during chemotherapy, showing feature of multiple brain infarction of unknown etiology.
Biopsy ; Brain Infarction ; Child ; Drug Therapy ; Exanthema ; Fever ; Humans ; Hypergammaglobulinemia ; Immunoblastic Lymphadenopathy* ; Lymph Nodes ; Lymphatic Diseases ; Lymphocytes ; Lymphoma ; Lymphoma, T-Cell, Peripheral* ; Lymphoproliferative Disorders ; Male ; Paraproteinemias ; Seoul

BACKGROUND/AIMS: This study aimed to better understand gene expression profiles of human hepatic stellate cell (HSC) activation and the relationship with the Wnt signaling pathway. METHODS: The global transcript levels in platelet derived growth factor-BB (PDGF-BB)-stimulated hTERT HSCs were analyzed using oligonucleotide microarrays. Oligonucleotide microarrays with 19K human oligo chips were performed to obtain gene expression profiles associated with proliferation in human hTERT HSCs. The microarray data was verified by real time quantitative PCR and expression of the components of Wnt signaling was analyzed by Western blot. RESULTS: Microarray data showed 243 up-regulated and 265 down-regulated genes in PDGF-BB-treated HSCs. The changes in expression of glypican3 and BH3 interacting domain death agonist (BID) mRNA in real time quantitative PCR, especially among the highly up- or down-regulated genes, were statistically consistent with the microarray data. The Wnt signaling pathway components, frizzled10 (FZD10) and calcium/calmodulin-dependent protein kinase II alpha (CAMK2A), showed increased expression in the short time course microarray and the up-regulation of FZD10 also occurred at the protein level. Our data showed various gene expression profiles during activation of human HSC. CONCLUSIONS: The up-regulated expression of FZD10 and CAMK2A suggests that the Wnt/Ca2+ signaling pathway is active in hTERT HSCs and may participate in HSC activation and proliferation
Angiogenesis Inducing Agents/*pharmacology ; Blotting, Western ; Calcium-Calmodulin-Dependent Protein Kinase Type 2/genetics/metabolism ; Cell Line ; Cell Proliferation ; Frizzled Receptors/genetics/metabolism ; Gene Expression Profiling ; Hepatic Stellate Cells/cytology/*metabolism ; Humans ; Oligonucleotide Array Sequence Analysis ; Platelet-Derived Growth Factor/*pharmacology ; Polymerase Chain Reaction ; Receptors, G-Protein-Coupled/genetics/metabolism ; *Signal Transduction ; Up-Regulation ; Wnt Proteins/genetics/*metabolism

PURPOSE: The aims of this study were to investigate outcomes corresponding to age at diagnosis as categorized into 5-year intervals and to explore whether endocrine-responsive tumors display clinical benefits from endocrine therapy after chemotherapy among young breast cancer patients. METHODS: A total of 1,171 patients who were under 40 years old at diagnosis between 1985 and 2007 were divided into 3 subgroups: < or =30 years (Group I, 13.3%), 31-35 years (Group II, 30.5%), and 36-40 years (Control group, 56.2%). Clinicopathological factors and outcomes were compared using a chi-square test, the Kaplan-Meier method, and Cox's hazards models. RESULTS: There were no significant differences in the characteristics and treatment patterns between the 3 groups, except for the grade, hormone receptors expression, and use of endocrine therap. Group I showed the worst survival and subsequently Group II presented worse outcomes than the Control group, mainly among hormone receptors-positive patients. Groups I and II showed increased risks of recurrence and death in multivariate analyses. Among 529 hormone receptors-positive patients who received chemotherapy, favorable outcomes for patients who were treated with endocrine agents were demonstrated, mainly in patients aged 35 years or less. However, interaction tests between the use of endocrine therapy and age at diagnosis were not significant. CONCLUSION: Age at diagnosis is an independent prognostic factor and the age of 35 years is a rational cut-off among young patients. Our subgroup analysis suggests that endocrine therapy may provide additional benefits even in young breast cancers. Therefore, further researches should be directed towards improving outcomes for this population.
Aged ; Breast ; Breast Neoplasms ; Humans ; Multivariate Analysis ; Prognosis ; Recurrence

BACKGROUND: Differentiation of atypical pathogens is important for community-acquired pneumonia (CAP). In this study, we compared sputum and nasopharyngeal swabs (NPS) for use in detection of Mycoplasma pneumoniae (MP), Chlamydophila pneumoniae (CP), and Legionella pneumophila (LP), using Seeplex PneumoBacter ACE Detection Assay (PneumoBacter; Seegene). METHODS: Sputum and NPS specimens were collected from patients in 15 hospitals. DNA was extracted from sputum using QIAamp DNA Stool Mini Kit (Qiagen) and from NPS using easyMAG (bioMerieux). Both types of specimens were evaluated by multiplex PCR using PneumoBacter. To determine the diagnostic performance of this assay, sputum samples were also tested using BD ProbeTec ET Atypical Pneumonia Assay (APA; Becton Dickinson). RESULTS: Among 217 sputum and NPS, 20 (9.2%), 2 (0.9%), and 0 sputum were positive for MP, LP, and CP, respectively, whereas 8 (3.7%) NPS were positive for MP. The sputum APA test yielded 186, 206, and 204 interpretable results for MP, LP, and CP, respectively. Of these, 21 (11.3%) were positive for MP, 2 (1.0%) were positive for LP, and 0 samples were positive for CP. Compared to APA, the sensitivity and specificity of the sputum assay for MP were 95.2% and 100.0%, respectively, whereas for the NPS assay, these were 38.1% and 93.9%. Sputum testing was more sensitive than NPS testing (P=0.002). For LP and CP diagnosis, PneumoBacter and APA tests agreed 100%. CONCLUSIONS: Specimen type is crucial and sputum is preferred over NPS for simultaneous detection of MP, LP, and CP using multiplex PCR in CAP.
Chlamydophila Infections/diagnosis ; Chlamydophila pneumoniae/*genetics/isolation & purification ; Community-Acquired Infections/*diagnosis ; DNA, Bacterial/analysis/isolation & purification ; Humans ; Legionella pneumophila/*genetics/isolation & purification ; Legionnaires' Disease/diagnosis ; Multiplex Polymerase Chain Reaction ; Mycoplasma pneumoniae/*genetics/isolation & purification ; Nasopharynx/*microbiology ; Pneumonia, Mycoplasma/diagnosis ; Reagent Kits, Diagnostic ; Sputum/*microbiology

Portal vein thrombus has been detected in patients with liver cirrhosis, pancreatitis, ulcerative colitis, septicemia, myeloproliferative disorder, and neoplasm. The formation of portal tumor thrombus by hepatocellular carcinoma is well recognized, because of its high incidence, and subsequent development of portal hypertension such as rupture of varices, ascites and liver failure indicates the poor prognosis. In gastric cancer, portal hypertension as an initial presentation is extremely rare. Herein we report a case presenting as portal hypertension caused by tumor thrombus without invasion of liver parenchyma. It is presumed to be intraluminal tumor thrombus originating from primary foci of gastric adenocarcinoma. Tumor thrombus in the portal vein is demonstrated on the PET-CT.
Adenocarcinoma/*diagnosis/pathology/radionuclide imaging ; Endoscopy, Gastrointestinal ; Fluorodeoxyglucose F18/diagnostic use ; Humans ; Hypertension, Portal/*diagnosis ; Male ; Middle Aged ; Positron-Emission Tomography and Computed Tomography ; Stomach Neoplasms/*diagnosis/pathology/radionuclide imaging