BACKGROUND: Ideal biomarkers are required to be developed for the diagnosis and prediction of the treatment of inflammatory bowel disease (IBD). We have reported that alteration of N-linked oligosaccharides of immunoglobulin (Ig) G is a novel diagnostic marker of IBD. Oligosaccharide alterations of IgA, however, have not been investigated in ...

Restoration of elbow flexion is one of the priorities in brachial plexus palsy, as this function brings the hand to the mouth. This study analyses the results of musculocutaneous nerve reconstruction in 194 patients with devastating paralysis. Results were analyzed in relation to denervation time, severity score, length of nerve ...

Congenital Disorders of Glycosylation (CDG) are rare genetic disorders due to impaired glycosylation. The patients with subtypes, CDG-Ia and CDG-Ib have mutations in the genes encoding phosphomannomutase2 (PMM2) and phosphomannose isomerase (MPI or PMI), respectively. PMM2 (Mannose-6-Phosphate => Mannose-1-Phosphate) and MPI (Mannose-6-Phosphate <=> Fructose-6-Phosphate) deficiencies reduce the metabolic flux of ...

Our study compared all requests for confirmatory typing (CT requests) received in our center between May 2007 and December 2009 (n = 134) for donors issued from 3 groups defined by different human leukocyte antigen (HLA) loci typed at different levels of resolution. We observed a significant advantage for volunteers ...

The aim of this study was to evaluate the ultrasound characteristics of the seminal vesicles (SVs) of infertile patients with diabetes mellitus (DM) and diabetic neuropathy (DN) and to investigate possible changes in ultrasound characteristics related to glycaemic control. To accomplish this, 45 infertile patients with type 2 DM and ...

Chang JH, Park YG, Choi YC, Choi JH, Moon JH. Correlation of electromyogram and muscle biopsy in myopathy of young age. To investigate the accuracy of electromyogram (EMG) compared to muscle biopsy in young myopathic patients. Observational study. A university rehabilitation hospital. Cases (N=62) were included if the patient was ...

The aim of this study was to report the clinical course for 3 young patients diagnosed with idiopathic amblyopia. The clinical course for 3 young patients with unilateral visual loss initially attributed to idiopathic amblyopia is presented. Extensive evaluations over the years, including optical coherence tomography, were performed in addition ...

We studied respiratory function and Chest Wall kinematics in a large population of adult patients affected by slow course muscular dystrophies such as Limb-Girdle Muscular Dystrophy (LGMD, n=38), Becker Muscular Dystrophy (BMD, n=20) and Facio-Scapulo Humeral Dystrophy (FSHD, n=30), through standard spirometry and through the Optoelectronic Plethysmography, to measure the ...

Upper-eyelid trichiasis often occurs with a single puffy eyelid or shallow eyelid crease in young Asian patients. This study presents a novel modified trichiasis correction method to simultaneously treat trichiasis and create a natural eyelid crease. It combines the modified small-incision debulking procedure and the orbicularis-levator fixation technique. The eyelash ...

BACKGROUND AND PURPOSE: Our objective was to evaluate the relationship between cannabis use and ischemic stroke in a young adult population. METHODS: Forty-eight consecutive young patients admitted for acute ischemic stroke participated in the study. First-line screening was performed, including blood tests, cardiovascular investigations, and urine analysis for cannabinoids. If ...

Background.  Hyponatremia (HN) is relatively common in adults with congenital heart disease and is a powerful predictor of mortality. However, the precise relationship of HN to the Fontan pathophysiology remains unknown. Purpose.  Our study aimed to clarify the association of HN to the Fontan pathophysiology. Methods and Results.  We measured ...

Background: The data on cerebrospinal fluid (CSF) levels of neurotrophins (NTs) in patients with meningoencephalitis are scarce, especially in adult patients. Methods: We measured CSF levels of NTs such as nerve growth factor (NGF), brain-derived neurotrophic factor, and neurotrophin-3 (NT-3) in adult patients with various meningitis (n = 10) and ...

Polymorphism of 5,10-methylenetetrahydrofolate reductase (MTHFR) C677T is one of the suggested risk factors for atherosclerosis. However, few studies have reported on the relationship between MTHFR C677T polymorphism and vascular calcification (VC) in chronic hemodialysis patients. We investigated the relationship between the MTHFR C677T polymorphism and VC in 152 chronic hemodialysis ...

Background: The clinical characteristics and the results of ajmaline challenge in young individuals with suspected Brugada syndrome (BS) have not been systematically investigated. Methods: Among a larger series of patients included in the BS database of our Department, 179 patients undergoing ajmaline challenge were included in the study and categorized ...

We report a patient who experienced multiple transient ischemic attacks (TIAs) over a 3-month period as the presenting clinical manifestation of sarcoidosis. This previously healthy 27-year-old man was admitted due to several daily episodes of usually left hemiparesis and dysarthria lasting between 15 seconds and 3 minutes. He did not ...

The pathophysiological mechanisms underlying chronic constipation in both adults and children remain to be unravelled. This is a not inconsiderable challenge, but is fundamental to improving management of such patients. Rectal sensorimotor function, which encompasses both sensation and motility, as well as biomechanical components (compliance, capacity), is now strongly implicated ...

BACKGROUND:: Orofacial granulomatosis (OFG) is a rare chronic inflammatory disease of unknown etiology sharing histological features with Crohn's disease (CD). This study aimed to 1) define the clinical presentation of OFG, 2) establish differentiating features for those with CD, 3) examine if onset of OFG is predictive of CD, and ...

Introduction. Young adults are likely to differ from old patients concerning cerebral infarction. Methods. We compared characteristics of patients aged under and above 50 years, admitted to the Department of Neurology with cerebral infarction between 2006 and 2009, based on prospective registration. Investigation followed one common protocol for both groups. ...

Background: Fabry disease (FD) is a rare hereditary lysosomal storage disease that has been highlighted as a possible etiology of stroke at a young age. Enlarged basilar artery diameters (BADs) have been demonstrated in FD, and we hypothesize that they might be useful for the screening of FD in young ...

Background: Stroke in the young has not been thoroughly investigated with most previous studies based on a small number of patients from single centers. Furthermore, recent reports indicate that Fabry disease may be a significant cause for young stroke. The primary aim of our study was to determine the prevalence ...

Introduction.  Early prediction of erectile dysfunction (ED) is critical in the treatment of impotence. Underlying pathogenesis may be the reason for ED without organic causes in young men. Aim.  We evaluated the early predictive value of glycosylated serum protein (GSP) in young patients whose ED was diagnosed as "nonorganic" in ...

The study aimed at examination of tissue expression of polysaccharides and secretory mucin 5AC (MUC5AC) in young patients (up to 25 years of age) with a symptomatic gallstones. For comparison, patients most frequently subjected to cholecystectomy were studied, i.e. patients of approximately 50 years of age with the same diagnosis. ...

Achievement of complete response (CR) is a new goal of therapy for multiple myeloma (MM). By sensitive methods, the depth of response can be measured even among the patients in CR. We used a sensitive real-time quantitative polymerase chain reaction by allele-specific primers (qASO-PCR) to assess the level of minimal ...

Despite the outstanding results generally obtained with imatinib mesylate (IM) in the treatment of chronic myeloid leukemia (CML), some patients show a poor molecular response. To evaluate the relationship between steady-state trough plasma IM concentration (IM-C(min)) and clinical response in CML patients, we integrated data from six independent Japanese studies. ...

Many trials in myeloma are stratified on cytogenetic abnormalities. Among them, the most commonly chosen are the t(4;14), the del(17p), and the t(14;16). If data are well established for t(4;14) and del(17p), very few data support the use of t(14;16). To address this issue, we retrospectively analyzed 1003 patients with ...

Acute leukemia presenting with central nervous system (CNS) signs and symptoms is uncommon and prone to be misdiagnosed. Here, we report nine patients with acute leukemia, including five patients with acute lymphoblastic leukemia (ALL) and four patients with acute myeloid leukemia (AML). These patients presented with symptoms suggestive of involvement ...

Hypermethylation of the homeobox (HOX) gene promoter leads to decreased expression of the gene during tumor development and is thought to be correlated with the clinical outcome in leukemia. In this study, we performed pyrosequencing to quantify the methylation level of HOXA5 genes in the bone marrow samples obtained from ...

BACKGROUND: The diagnosis and classification of myelodysplastic syndromes (MDS) is based on cytomorphology (CM) and cytogenetics (CG). Multiparameter flow cytometry (MFC) may add important diagnostic information. METHODS: To evaluate the potential role of MFC in the diagnostic setting of MDS, the authors analyzed the results from 1013 patients with suspected ...

The onset of a BCR-ABLT315I mutation during the course of chronic myelogenous leukemia (CML) on tyrosine kinase inhibitors (TKIs) usually results in poor survival, and therapeutic options remain few in the absence of any allogeneic donor. We have investigated the affect of subcutaneous omacetaxine (OMA, or homo-harringtonine) cycles on unmutated ...

Methylation of tumor suppression genes (TSGs) is common in myeloid malignancies. However, application of this as a molecular marker for risk stratification in patients with AML is limited. To elucidate the impact of patterns of TSG methylation on outcome in cytogenetically normal patients, 106 samples from patients with having normal ...

To analyze the difference in the distribution of an insulin growth factor-1 (IGF-1) polymorphism (-2995 C/A) between young and old colorectal cancer (CRC) patients. Information from 950 CRC patients undergoing surgery at the Taipei Veterans General Hospital between 2000 and 2005 was collected. The IGF-1 polymorphism was analyzed in patients ...

Defects in central and peripheral tolerance are thought to contribute to life-threatening graft-versus-host disease (GvHD), a severe complication following allogeneic stem cell transplantation (SCT). Recent investigations have demonstrated regulatory T cells (Tregs) to suppress allogeneic immune reactions. Therefore, SCT patients with no or critically low numbers of Tregs may have ...

The characteristics and clinical outcome of 600 adult patients with aplastic anemia (AA) that had successful cytogenetic studies at the time of diagnosis were retrospectively evaluated. Among these, 572 (95.3%) had normal cytogenetics and 28 (4.7%) had abnormal cytogenetics. The most frequent abnormality was trisomy 8 (n = 15), followed ...

PURPOSE: Mutations leading to constitutive activation of the FMS-like tyrosine kinase 3 receptor (FLT3) occur in blasts of 30% of patients with acute myeloid leukemia (AML). Midostaurin (PKC412; N-benzoylstaurosporin) is a multitargeted tyrosine kinase inhibitor, with demonstrated activity in patients with AML/myelodysplastic syndrome (MDS) with FLT3 mutations. PATIENTS AND METHODS: ...

Imatinib mesylate (IM) trough concentration varies among IM-treated chronic myeloid leukemia (CML) patients. Although IM pharmacokinetics is influenced by several enzymes and transporters, little is known about the role of pharmacogenetic variation in IM metabolism. In this study, associations between IM trough concentration, clinical response and 11 single-nucleotide polymorphisms in ...

To investigate cardiac effects of imatinib at an extended follow-up (median 12.4 months), 12 chronic myeloid leukemia patients underwent cardiac screening. No significant changes on the frequency of cardiovascular signs and symptoms, electrocardiographic abnormalities, echocardiographic measurements and BNP levels were observed. Median ejection fraction was 67% at baseline versus 68% ...

The aim of this study was to improve the predictive power of the WHO classification-based prognostic scoring system (WPSS) by including age in patients with the myelodysplastic syndrome (MDS). 136 Korean patients with de novo MDS between 1995 and 2008 were evaluated retrospectively. All patients were reclassified according to WHO ...

Extramedullary hematopoiesis (EMH) refers to the development of foci of hematopoiesis outside its normal location in the bone marrow. This occurs normally during fetal development but is abnormal postpartum. The most common sites of EMH are the spleen and liver. The phenomenon occurs in a number of disease states, notably ...

The diagnosis of myelodysplastic syndromes (MDSs) relies largely on morphologic and karyotypic abnormalities, present in about 50% of patients with MDS. Array-based genomic platforms have identified copy number alterations in 50% to 70% of bone marrow samples of patients with MDS with a normal karyotype, suggesting a diagnostic role for ...

Myelodysplastic syndromes (MDS) represent a heterogeneous group of clonal hematopoietic stem cell disorders that are preferentially diagnosed in the elderly. Aberrant expression of the adhesion receptor CD44 correlates with poor prognosis in various neoplasms. To evaluate the prognostic impact of CD44 in MDS serum levels of soluble CD44 standard (solCD44s) ...

Monosomal karyotype (MK), defined as 2 or more monosomies, or a single monosomy in the presence of structural abnormalities, has recently been reported as identifying a distinct subset of acute myeloid leukemia (AML) patients with an extremely poor prognosis. In an effort to confirm this observation, we analyzed the prognostic ...

Both the presence of HLA-DR15 and tumor necrosis factor (TNF)-α levels have been reported to affect outcome after hematopoietic cell transplantation (HCT). Patients with a myelodysplastic syndrome (MDS) show a high prevalence of HLA-DR15 and express high levels of TNF-α in the bone marrow. The present analysis involving 7950 patients ...

This phase I/II study was designed to demonstrate the tolerance and the efficacy of a combination of pegylated interferon-α 2a to Imatinib mesylate (IM) 600mg daily in cytogenetically IM-resistant but in CHR chronic phase CML patients. The combination was generally well tolerated in the 15 evaluable patients. A significant reduction ...

We studied the effects of the presence of the HLA-DR15 allele on the experimental and clinical features of myelodysplastic syndrome (MDS) by assessing the clinical data of 136 patients with MDS. We observed that the frequency of HLA-DR15 expression in MDS patients (38.7%) was significantly higher than that in the ...

Bone marrow samples of 17 acute myeloid leukemia (AML) patients were analyzed for apoptosis-related markers. The levels of active caspase-3 (aC-3), Bcl-2 and cleaved poly(ADP-ribose) polymerase (cPARP) were measured by flow cytometry and compared with survivin and MDR1 gene expression as defined by reverse transcriptase polymerase chain reaction (RT-PCR). The ...

A small subgroup of patients with hypereosinophilic syndrome (HES) demonstrates imatinib-sensitive fusion transcript-the FIP1L1-PDGFRA (F/P+). These cases are currently diagnosed as chronic eosinophilic leukaemia (CEL). In this paper, we screened 77 patients to estimate the frequency of FIP1L1-PDGFRA transcript among patients with unexplained, long-term hypereosinophilia exceeding 1.5 x 10(9)/L and ...

PURPOSE: B-mode ultrasound (US) of hepatic candidiasis (HC) shows an uncharacteristic pattern. The aim of this study is to display the pattern of HC by performing contrast-enhanced ultrasound (CEUS). PATIENTS AND METHODS: Between May 2006 and June 2008 HC was diagnosed in 12 patients (4 female, 8 male) by clinical ...

The diagnostic criteria for acute erythroid leukemia have been controversial since this disease was initially described. Using the current World Health Organization classification criteria, we retrospectively reviewed cases of acute myeloid leukemia or myelodysplastic syndrome in which erythroid precursors were >or=50% of the bone marrow nucleated cell population and the ...

The aims of the present study are two-fold: (1) to define the clinical features of hypoplastic myelodysplastic syndrome (h-MDS) in comparison with aplastic anemia (AA) and (2) to evaluate the prognostic roles of karyotyping and fluorescent in situ hybridization (FISH) in these hypoplastic marrow syndromes. Based on a medical record ...

PURPOSE: Organic cation transporter-1 (OCT-1) activity (OA), a measure of the OCT-1-mediated influx of imatinib into CML mononuclear cells (MNCs), is predictive of major molecular response (MMR) at 12 and 24 months in patients with untreated CML. We now report the impact of OA on loss of response, disease transformation, ...