Prognostic value of CT myocardial perfusion imaging and CT-derived fractional flow reserve for major adverse cardiac events in patients with coronary artery disease.

OBJECTIVES: The purpose of this study was to analyze the prognostic value of dynamic CT perfusion imaging (CTP) and CT derived fractional flow reserve (CT-FFR) for major adverse cardiac events (MACE). METHODS: 81 patients from 4 institutions underwent coronary computed tomography angiography (CCTA) with dynamic CTP imaging and CT-FFR analysis. Patients were followed-up at 6, 12, and 18 months after imaging. MACE were defined as cardiac death, nonfatal myocardial infarction, unstable angina requiring hospitalization, or revascularization. CT-FFR was computed for each major coronary artery using an artificial intelligence-based application. CTP studies were analyzed per vessel territory using an index myocardial blood flow, the ratio between territory and global MBF. The prognostic value of CCTA, CT-FFR, and CTP was investigated with a univariate and multivariate Cox proportional hazards regression model. RESULTS: 243 vessels in 81 patients were interrogated by CCTA with CT-FFR and 243 vessel territories (1296 segments) were evaluated with dynamic CTP imaging. Of the 81 patients, 25 (31%) experienced MACE during follow-up. In univariate analysis, a positive index-MBF resulted in the largest risk for MACE (HR 11.4) compared to CCTA (HR 2.6) and CT-FFR (HR 4.6). In multivariate analysis, including clinical factors, CCTA, CT-FFR, and index-MBF, only index-MBF significantly contributed to the risk of MACE (HR 10.1), unlike CCTA (HR 1.2) and CT-FFR (HR 2.2). CONCLUSION: Our study provides initial evidence that dynamic CTP alone has the highest prognostic value for MACE compared to CCTA and CT-FFR individually or a combination of the three, independent of clinical risk factors.

Diagnostic Performance of Multidetector Computerized Tomography in the Detection of Abdominal Complications Early and Late After Liver Transplantation: A 10-Year Experience.

BACKGROUND: Multidetector computerized tomography (MDCT) is considered to be a fast noninvasive diagnostic technique for the evaluation of postoperative complications in patients with liver transplantation (LT). However, its role has not been fully established in the diagnosis for detecting complications after liver transplantation. The aim of this work was to evaluate the diagnostic performance of MDCT for detecting abdominal complications in the early and late periods after LT. METHODS: We retrospectively enrolled 75 patients who had undergone LT from March 2006 to January 2010, followed by MDCT from March 2006 to November 2017. Patients were divided into 2 groups according to the timing after LT: within the first 3 months (early period) or ≥3 months after LT (late period). We evaluated vascular, biliary, and other complications on MDCT. Angiography, endoscopic retrograde cholangiography, and percutaneous transhepatic cholangiography were used as reference standards. RESULTS: We initially found 77 complications in 45 patients (60.0%) with the use of MDCT. After comparison with the reference standards, 83 complications were diagnosed in 49 patients (65.3%). Forty-seven complications (34 vascular, 10 biliary, 3 other complications) were diagnosed in 33 patients (44.0%) during the early period, and 36 complications (6 vascular, 20 biliary, 10 other complications) were detected in 27 patients (36.0%) in the late period. The sensitivity, specificity, and diagnostic accuracy of MDCT for diagnosing overall complications were, respectively, 93.6%, 90.2%, and 92.0% in the early period (for vascular complications: 97.1%, 92.6%, and 94.3%,; for biliary complications: 80.0%, 100%, and 97.7%) and 77.8%, 98.1%, and 89.8% in the late period (for vascular complications: 83.3%, 100%, and 98.9%; for biliary complications: 65.0%, 98.6%, and 90.9%). CONCLUSIONS: Although MDCT in the late period should be interpreted with caution in patients with suspected biliary complication, MDCT is a reliable diagnostic technique for the identification of early and late abdominal complications after LT.

Validation of cardiac magnetic resonance tissue tracking in the rapid assessment of RV function: a comparative study to echocardiography.

AIM: To investigate the accuracy of cardiac magnetic resonance (CMR) tissue tracking (CMR-TT) and speckle tracking echocardiography (STE) against CMR determined right ventricular (RV) ejection fraction (RVEF) and to identify an optimal cut-off value for STE and CMR-TT to determine RVEF <45% and compare this to other conventional methods for estimating RVEF in dilated cardiomyopathy (DCM) patients. MATERIALS AND METHODS: Twenty-nine DCM patients were recruited prospectively. CMR and echocardiography were performed within 48 hours and four-chamber views were used for strain analysis. Contoured CMR short axis images provided RVEF. Intraclass correlation coefficient (ICC), bias, levels of agreement, and receiver operating characteristic (ROC) curve analyses were performed. RESULTS: CMR-TT RV free-wall longitudinal strain (FLS) and STE RV global longitudinal strain (GLS) showed the best correlation with RVEF (r=-0.68, r=-0.82, p<0.001 respectively). There was moderate correlation between echocardiography RV GLS and CMR RV FLS (r=0.64, p<0.001). CMR-TT FLS showed excellent intra-observer and interobserver reliability (ICC=0.980; ICC=0.968 respectively). STE GLS correlated better with RVEF than with peak systolic annular velocity (S'; r=0.45), tricuspid annular plane systolic excursion (TAPSE; r=0.56), and fractional area change (FAC; r=0.78). CMR-TT RV FLS had better correlation with RVEF than CMR TAPSE (r=0.69 versus 0.40). ROC analysis demonstrated the optimal cut-off value for CMR-TT RV FLS and STE GLS in detection of RVEF <45% was ≥-24.4% (area under the curve=0.87, 100% sensitivity, 66.7% specificity) and ≥-20.9% (area under the curve=0.88, 100% sensitivity, 60% specificity) respectively. CONCLUSION: CMR-TT FLS and STE GLS showed potential to provide rapid assessment of RV function and had superior correlation with RVEF compared to conventional parameters.

Gender differences in clinical and angiographic findings of patients with Takayasu arteritis.

OBJECTIVES: Because Takayasu arteritis (TA) predominantly affects females, few data regarding gender differences have been reported. The aim of the present study is to describe clinical features and angiographic findings of patients with TA according to gender. METHODS: According to the 1990 American College of Rheumatology criteria, 294 patients were diagnosed with TA between September 1994 and April 2014 at a single tertiary hospital. We reviewed clinical, laboratory, and radiologic data at the time of diagnosis. RESULTS: Among the 294 patients studied, 257 (87.4%) were female (male:female ratio=1:6.9). Female patients had a higher tendency to exhibit blood pressure differences between arms (p=0.595) and a weak pulse at the brachial artery (p=0.063). In male patients, we observed higher serum creatinine levels (p=0.038) and hypertension more frequently (p=0.061) than in females. Females exhibited more common lesions in the thoracic aorta and its branches, while males had more frequent lesions in the abdominal aorta and its branches. An analysis of angiographic classification according to the International TA Conference in Tokyo 1994 classification revealed that male patients had a higher incidence of type IV and females showed a higher incidence of types I, IIa, and IIb. CONCLUSIONS: Female patients with TA have more frequent involvement of the thoracic aorta and its branches, whereas involvement of the abdominal aorta and its branches is more common in males. Considering these gender-specific differences, adjustment of diagnostic criteria for TA according to gender may be necessary.

Detection of ischaemic myocardial lesions with coronary CT angiography and adenosine-stress dynamic perfusion imaging using a 128-slice dual-source CT: diagnostic performance in comparison with cardiac MRI.

OBJECTIVE: We assessed the diagnostic performance of adenosine-stress dynamic CT perfusion (ASDCTP) imaging and coronary CT angiography (CCTA) for the detection of ischaemic myocardial lesions using 128-slice dual-source CT compared with that of 1.5 T cardiac MRI. METHODS: This prospective study included 33 patients (61±8 years, 82% male) with suspected coronary artery diseases who underwent ASDCTP imaging and adenosine-stress cardiac MRI. Two investigators independently evaluated ASDCTP images in correlation with significant coronary stenosis on CCTA using two different thresholds of 50% and 70% diameter stenosis. Hypoattenuated myocardial lesions on ASDCTP associated with significant coronary stenoses on CCTA were regarded as true perfusion defects. All estimates of diagnostic performance were calculated and compared with those of cardiac MRI. RESULTS: With use of a threshold of 50% diameter stenosis on CCTA, the diagnostic estimates per-myocardial segment were as follows: sensitivity, 81% [95% confidence interval (CI): 70-92%]; specificity, 94% (95% CI: 92-96%); and accuracy 93% (95% CI: 91-95%). With use of a threshold of 70%, the diagnostic estimates were as follows: sensitivity, 48% (95% CI: 34-62%); specificity, 99% (95% CI: 98-100%); and accuracy, 94% (95% CI: 92-96%). CONCLUSION: Dynamic CTP using 128-slice dual-source CT enables the assessment of the physiological significance of coronary artery lesions with high diagnostic accuracy in patients with clinically suspected coronary artery disease. ADVANCES IN KNOWLEDGE: Combined CCTA and ASDCTP yielded high accuracy in the detection of perfusion defects regardless of the threshold of significant coronary stenosis.

Additional value of adenosine-stress dynamic CT myocardial perfusion imaging in the reclassification of severity of coronary artery stenosis at coronary CT angiography.

AIM: To assess the additional value of adenosine-stress dynamic computed tomography (CT) perfusion (ASDCTP) imaging compared with coronary CT angiography (CCTA) alone to detect significant coronary artery stenosis for each threshold of 50% and 70% diameter stenosis. MATERIALS AND METHODS: The study included 34 patients (65 ± 11 years, 79% men) with suspected coronary artery diseases who underwent ASDCTP imaging using a 128-section dual-source CT (DSCT) and invasive coronary angiography (ICA). Two investigators classified coronary artery stenosis on CCTA as severe or not. If appropriate image quality could not be acquired due to artefacts, the segment was classified as a lesion with significant stenosis. After the interpretation of ASDCTP imaging, the degree of stenosis was reclassified. All parameters of diagnostic accuracy were calculated before and after ASDCTP analysis for detection of significant coronary artery stenosis with ICA as the reference standard. RESULTS: The diagnostic accuracy parameters per vessel for the detection of ≥50% stenosis before and after ASDCTP analysis changed as follows: sensitivity, from 80% to 83%; specificity, from 83% to 98%; positive predictive value (PPV), from 87% to 98%; and negative predictive value (NPV), from 75% to 80%. The addition of ASDCTP resulted in reclassification from one class of stenosis severity to another in a significant number of vessels with threshold of 50% stenosis [net reclassification improvement (NRI), 0.176; p < 0.01]. Conversely, the addition of ASDCTP did not result in significant reclassification of stenosis severity in vessels with threshold of 70% stenosis (NRI, 0.034; p = 0.51). CONCLUSIONS: ASDCTP imaging provides incremental value in the detection of significant coronary artery stenosis using a threshold of 50%.

Multidetector CT and MRI of ostial atresia of the coronary sinus, associated collateral venous pathways and cardiac anomalies.

AIM: To analyse the multidetector computed tomography (MDCT) and magnetic resonance imaging (MRI) findings in patients with atresia of the coronary sinus orifice (CSA). MATERIALS AND METHODS: MDCT findings of 15 consecutive adult patients with CSAs were retrospectively analysed. The patients underwent contrast-enhanced electrocardiography-gated MDCT (n = 13) or both CT and MRI (n = 2). RESULTS: The mean size of the coronary sinus (CS) was 14.2 mm (range 5.5-24 mm) and 11 patients (73.3%) showed CS dilatation (diameter ≥12 mm). The mean length of the atretic CS segment was 2.9 mm (range 0-8 mm). Different forms of venous collateral pathways were observed in the CSA patients. Nine (60%) of the 15 CSA patients had communication between the right atrium (RA; n = 6) or LA (n = 5) and CS via intraseptal veins; six patients (40%) had persistent left superior caval veins; communications were also observed between the CS and RA (n = 4) or LA (n = 4); two patients had collateral venous pathways between dilated cardiac veins with RA; two patients had unroofing of the CS as outlet channels. Nine patients (60%) had cardiac anomalies: coronary artery fistula to the pulmonary artery (n = 6) or left ventricular base and CS (n = 1), atrial septal defects (n = 2), and a ventricular septal defect (n = 1). CONCLUSION: CSA patients have venous collateral pathways and a high incidence of associated cardiovascular anomalies such as coronary artery fistulae and atrial septal defects.

Demethylation analysis of the FOXP3 locus shows quantitative defects of regulatory T cells in IPEX-like syndrome.

Immune dysregulation, Polyendocrinopathy, Enteropathy X-linked (IPEX) syndrome is a unique example of primary immunodeficiency characterized by autoimmune manifestations due to defective regulatory T (Treg) cells, in the presence of FOXP3 mutations. However, autoimmune symptoms phenotypically resembling IPEX often occur in the absence of detectable FOXP3 mutations. The cause of this "IPEX-like" syndrome presently remains unclear. To investigate whether a defect in Treg cells sustains the immunological dysregulation in IPEX-like patients, we measured the amount of peripheral Treg cells within the CD3(+) T cells by analysing demethylation of the Treg cell-Specific-Demethylated-Region (TSDR) in the FOXP3 locus and demethylation of the T cell-Specific-Demethylated-Region (TLSDR) in the CD3 locus, highly specific markers for stable Treg cells and overall T cells, respectively. TSDR demethylation analysis, alone or normalized for the total T cells, showed that the amount of peripheral Treg cells in a cohort of IPEX-like patients was significantly reduced, as compared to both healthy subjects and unrelated disease controls. This reduction could not be displayed by flow cytometric analysis, showing highly variable percentages of FOXP3(+) and CD25(+)FOXP3(+) T cells. These data provide evidence that a quantitative defect of Treg cells could be considered a common biological hallmark of IPEX-like syndrome. Since Treg cell suppressive function was not impaired, we propose that this reduction per se could sustain autoimmunity.

Routine cardiac evaluation in patients with ischaemic stroke and absence of known atrial fibrillation or coronary heart disease: transthoracic echocardiography vs. multidetector cardiac computed tomography.

BACKGROUND AND PURPOSE: Cardiac evaluation is routinely conducted in patients with ischaemic stroke because embolisms originating from the heart are an important cause of stroke. We compared the prevalence of cardioaortic sources of cerebral embolism (CSCE) in patients with ischaemic stroke detected by transthoracic echocardiography (TTE) and/or multidetector cardiac computed tomography (MDCT). Additionaly, we investigated the frequency and severity of asymptomatic coronary artery disease (CAD) in patients who underwent MDCT. METHODS: We prospectively recruited patients with non-atrial fibrillation-related stroke who had no history of cardiac disease. Patients underwent cardiac evaluation using TTE alone (N=243, during the early phase of this study--TTE period), TTE and MDCT (N=62, midphase--transitional period) and MDCT alone (N=138, late phase--MDCT period). CSCE were defined according to the original and revised TOAST classifications. CAD was defined as 50% or more stenosis of the coronary artery. RESULTS: Patients' characteristics did not differ amongst groups; however, CSCE were more frequently detected in the MDCT period than in the TTE period (18.1% vs. 6.6%, P<0.001). In the transitional period, there were 16 patients (25.8%) who were found to be CSCE by MDCT but not TTE, whilst three patients (4.8%) were found to be CSCE by TTE but not MDCT (P=0.004). Amongst the patients who underwent MDCT, 72 (36.0%) had asymptomatic CAD, invasive coronary angiography was needed in 21 (10.5%) and 10 (5.0%) patients finally underwent coronary intervention. CONCLUSION: Multidetector cardiac computed tomography proved to be complementary to TTE for the identification of CSCE and can detect asymptomatic CAD, one of the major causes of vascular death in patients with stroke, in patients with non-atrial fibrillation-related stroke.

Risk factors for posttransplant lymphoproliferative disorder in pediatric liver transplant recipients with cytomegalovirus antigenemia.

Epstein-Barr virus (EBV) infections, associated with posttransplant lymphoproliferative disorder (PTLD) are known to develop in cytomegalovirus (CMV)-infected transplant recipients due to the indirect effects of CMV. This study evaluated risk factors for PTLD among pediatric liver transplant recipients with CMV infections. We reviewed the medical records of 119 patients

Effect of proximal arterial occlusion on the progression of the distal arterial disease.

PURPOSE: To test the hypothesis that a proximal arterial occlusion has a protective effect on the progression of distal arterial disease, assessed by distal runoff resistance score (DRRS). MATERIALS AND METHODS: One hundred and nineteen patients (median age 64 y, male 96%) with a unilateral iliac and/or femoral arterial occlusion caused by atherosclerosis were analyzed retrospectively. DRRS was assessed on arteriograms of the test limb (with proximal arterial occlusion) and control limb (contralateral limb). Multivariate analysis was performed to determine if a proximal arterial occlusion was an independent risk factor for the development of a difference in the DRRS between the test and control limbs. RESULTS: The clinical features of the subjects were claudication in 85%, ankle brachial index 0.52 (median), diabetes in 30% and smoker in 76%. The upper leg DRRS of the test limb was significantly lower in the iliac occlusion group than in the control limb (1.87+/-1.69 vs 2.85+/-2.75, p=0.032). However, multivariate analysis failed to identify any risk factors associated with the difference in DRRS in both limbs. CONCLUSION: There was no evidence that a proximal arterial occlusion was associated with a slower progression of distal arterial disease.

Inhibition of VEGF blocks TGF-beta1 production through a PI3K/Akt signalling pathway.

Vascular endothelial growth factor (VEGF) is a mediator of airway inflammation and remodelling in asthma. Transforming growth factor (TGF)-beta(1) plays pivotal roles in diverse biological processes, including tissue remodelling and repair in a number of chronic lung diseases. However, there are few studies elucidating the interactions between VEGF and TGF-beta(1) in allergic airway disease. A murine model of allergic airway disease was used to define the mechanism by which VEGF induces subepithelial fibrosis and to investigate a potential relationship between VEGF and TGF-beta(1) and the mechanisms by which VEGF signalling regulates TGF-beta(1) expression in allergic airway disease. The ovalbumin (OVA)-inhaled murine model revealed the following typical pathophysiological features of allergic airway disease in the lungs: increased numbers of inflammatory cells of the airways, airway hyperresponsiveness, increased peribronchial fibrosis, and increased levels of VEGF and TGF-beta(1). Administration of VEGF inhibitors reduced the pathophysiological signs of allergic airway disease and decreased the increased TGF-beta(1) levels and peribronchial fibrosis, including phosphoinositide 3-kinase (PI3K) activity after OVA inhalation. In addition, the increased TGF-beta(1) levels and collagen deposition after OVA inhalation were decreased by administration of PI3K inhibitors. These results suggest that inhibition of vascular endothelial growth factor attenuates peribronchial fibrosis, at least when mediated by regulation of transforming growth factor-beta(1) expression through phosphoinositide 3-kinase/Akt pathway in a murine model of allergic airway disease.

Value of repeat ultrasound-guided fine-needle aspiration in nodules with benign cytological diagnosis.

PURPOSE: To assess the value of repeat ultrasound-guided fine-needle aspiration (US-FNA) in nodules with benign cytological diagnosis. MATERIAL AND METHODS: One-hundred-and-eighty-seven patients undergoing repeat US-FNA were included after a benign cytological diagnosis had been made by the initial US-FNA. They were divided into a re-aspiration group, who underwent repeat US-FNA within 6 months for a discordant pathological and clinico-radiological result, and a follow-up aspiration group, who underwent repeat US-FNA after 6 months without any clinical or radiological suspicion. The cancer rate in each group and the US findings of the later-diagnosed malignant nodules were assessed. RESULTS: Nine malignancies were verified in the 187 cases (4.8%) by repeat US-FNA or surgery. In 44 patients in the re-aspiration group, 6 malignancies were identified (13.6%), compared with 3 malignancies in the 143 patients in the follow-up aspiration group (2.1%) (P<0.05). The later-diagnosed malignant nodules were an average of 1.0 cm in diameter; 66.7% were round; 66.7% were circumscribed; 100% were solid; 88.9% were hypoechoic; and 55.6% contained calcifications on US. CONCLUSION: The follow-up of nodules with benign cytological diagnosis without clinicoradiological suspicion of malignancy is warranted using imaging surveillance rather than repeated US-FNA.

Case of living donor liver transplantation in a patient with biliary atresia combined with situs inversus.

Until recently, situs inversus was considered to be an absolute contraindication for liver transplantation. However, recent reports have suggested that situs inversus should not be considered a contraindication. This study presents a successful living donor liver transplantation performed in a 4-month-old male infant with biliary atresia and situs inversus. The surgical findings revealed abdominal situs inversus with polysplenia and an absent retrohepatic inferior vena cava and intestinal malrotation.

Clinicopathological features of incidental hepatocellular carcinoma in liver transplantation.

The incidence of detecting hepatocellular carcinoma (HCC) in a removed recipient liver after a liver transplant is not rare. The clinical features are expected to be different from the preoperatively diagnosed HCC. The aim of this study was to evaluate the clinicopathological features of incidental HCC. This study retrospectively analyzed five cases of incidental HCC among 51 liver transplant cases of HCC operated from September 1996 to February 2002. The proportion of an incidental HCC was 9.8%. The mean age was 46.2 years with a higher prevalence in may (80%, four cases). The alpha-fetoprotein level was normal or mildly elevated. HBsAg was positive in all cases. Imaging studies revealed regenerative or dysplastic nodules, or no specific lesion. The pathological findings demonstrated a mean size of 1.16 cm, multiplicity in three cases (60%), no microvascular invasion, and Edmonson grade I (60%) and II (40%). There was no recurrence of the HCC. However, two patients died due to an intracranial hemorrhage and a graft failure, respectively. In conclusion, incidentally found HCC showed less invasive pathological features and a better prognosis.

A case of laryngeal posttransplantation lymphoproliferative disease.

The development of posttransplant lymphoproliferative disease (PTLD) is strongly linked to infection with the Epstein-Barr virus (EBV), immunosuppression-state, the type of allograft, and EBV-seronegativity. A 18-month-old girl who had undergone living donor liver transplantation using the left lateral segment from her father was treated with tacrolimus and corticosteroid as an immunosuppressant regimen. She was readmitted 3 months after the transplant to evaluate the etiology of dyspnea and abdominal fullness as well as a decreased urine volume. She was diagnosed as an anastomotic stenosis of the hepatic vein for which she underwent balloon angioplasty. The treatment was repeated at postoperative month 5, 8, and 11. As postoperative 6 months, the result of the serological EBV-CA (IgG/IgM) was positive. In postoperative month 10, the EBV PCR serologic test become positive, and a laryngeal biopsy revealed PTLD. She was treated with acyclovir and gangyclovir as well as reduced immunosuppression. We report herein a rare case of laryngeal PTLD in a patient who had undergone living donor liver transplant with paternal allograft.

Posttransplantation lymphoproliferative disorder in pediatric liver transplantation.

INTRODUCTION: The aim of this study was to evaluate the clinical features of risk factors for posttransplantation lymphoproliferative disorder (PTLD) in pediatric liver transplantation. MATERIALS AND METHODS: Between June 1996 and June 2002, among 41 pediatric patients who underwent liver transplantation, 7 died in the postoperative period. Thirty-five patients, including 1 patient who died of PTLD, were reviewed. Based on the serology results, patients were divided into a high-risk group (EBV-naive recipients of EBV-positive grafts) and a low-risk group (patients other than those in the high-risk group). RESULTS: Five of 41 patients (12.2%) developed PTLD. All of them belonged to the high-risk group. The incidence of PTLD in the high-risk group was 31.3% (5 of 16). The mean duration between operation and diagnosis for PTLD was 9.8 months. Primary EBV infection developed at a median of 6 months after transplantation. Three of 5 patients developed rejection before the diagnosis of PTLD. One patient was diagnosed with laryngeal and gastrointestinal PTLD, whereas the other 4 had gastrointestinal PTLD. They experienced the following symptoms and signs: anemia (100%), hypoalbuminemia (100%), fever (80%), diarrhea (80%), gastrointestinal bleeding (80%), and anorexia (60%). CONCLUSION: The common features of PTLD development were as follows: (1) EBV-positive donors placed into EBV-naive recipients, (2) primary EBV infection approximately 6 months after transplantation, (3) young age, 1 year old at operation, and (4) requirement for intensive posttransplantation immunosuppression.

Prevention of de novo hepatitis B infection from HbcAb-positive donors in living donor liver transplantation.

Hepatitis B virus (HBV) prophylaxis is necessary to prevent de novo hepatitis B infection from HbcAb-positive donors. However, which protocol is more effective is somewhat controversial. Also, it is uncertain whether it is necessary to administer HBV prophylaxis for HbsAb-positive recipients. This study attempted to determine whether it is necessary to administer HBV prophylaxis for HbsAb-positive patients and to evaluate the efficacy of an HBIG monotherapy protocol. From May 1996 to July 2001, among 128 donors examined for HbcAb, 58 donors (45.3%) were HbcAb-positive. Eighteen HbcAb-positive grafts were transplanted to HbsAg-negative recipients. The 4 patients who died of unrelated causes were excluded from this study. Of 14 study cases, 12 recipients were HbsAb-positive, and 2 were HbsAb-naive. Prior to late 1998, we used HBV vaccination only for de novo infection prophylaxis. However, starting from December 1998, HBIG was administered from the time of the liver transplantation regardless of HBsAb positivity. The overall rate of de novo HBV infections from HbcAb-positive donors was 21.4% (3 of 14). All 3 recipients without HBIG prophylaxis presented with de novo HBV infections. Two were HbsAb-positive preoperatively. No de novo HBV infections occurred among recipients with HBIG prophylaxis. Therefore, it is essential to administer HBV prophylaxis even for vaccinated HbsAb-positive patients. HBIG monotherapy is effective to prevent de novo hepatitis B infections from HbcAb-positive donors in living donor liver transplantation.

Mutation spectrum of the glucose-6-phosphatase gene and its implication in molecular diagnosis of Korean patients with glycogen storage disease type Ia.

Glycogen storage disease type Ia (GSD Ia; MIM 232200) is an autosomal recessive inherited metabolic disorder resulting from a deficiency of the microsomal glucose-6-phosphatase (G6Pase), the enzyme that catalyzes the terminal step in gluconeogenesis and glycogenolysis. Various mutations in the G6Pase gene (G6PC) have been found in patients with GSD Ia. To elucidate the spectrum of the G6PC gene mutations, 13 unrelated Korean patients with GSD Ia were analyzed. We were able to identify mutant alleles in all patients, including three known mutations (727G > T, G122D, and T255I) and two novel mutations (P178A and Y128X). The frequency of the 727G > T mutation in Korean patients with GSD Ia was 81% (21/26), which was slightly lower than that (86-92%) in Japanese but much higher than that (44.4%) in Taiwan Chinese. Except one, all patients were either homozygous (9/13) or compound heterozygous (3/13) for the 727G > T mutation; the only patient without the 727G > T mutation was a compound heterozygote for the G122D and Y128X mutations. Our findings suggest that a DNA-based test can be used as the initial diagnostic approach in Korean patients clinically suspected to have GSD Ia, thereby avoiding invasive liver biopsy.