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Azathioprine is a purine analog (PA) used to treat myasthenia gravis (MG). However, some patients are sensitive to azathioprine and develop severe side effects, such as leukopenia, alopecia, and diarrhea soon after using the medication. Pharmacogenetics plays a crucial role in such intolerance.A 16-year-old woman with MG developed hair loss, pancytopenia, bloody diarrhea, and fever shortly after azathioprine treatment.Pharmacogenetic analysis revealed compound heterozygosity of the nudix hydrolase 15 (NUDT15) gene, which led to suppressed NUDT15 function. Colonoscopy revealed large ulcers with polypoid lesions in the terminal ileum, cecum, ascending colon, and rectum. These are the characteristics of inflammatory bowel disease (IBD).Sanger sequencing of NUDT15 gene and colonoscopy for bloody stool evaluation.The patient recovered completely from this acute episode after discontinuation of azathioprine treatment. Her hemogram turned back to normal range. There was also no blood in stool during follow-up.Pharmacogenetic effects should be considered when prescribing PA medication. The possibility of secondary or concomitant autoimmune diseases must always be considered in patients with MG.

Objective Haemophilia A and B are disorders caused by the lack of clotting factors VIII and IX, respectively. Repeated bleeding into the same joint leads to haemophilic arthropathy (HA). Interleukin (IL)-1β is responsible for the pro-inflammatory response and IL-37 is induced by IL-1β stimuli to have an anti-inflammatory response and prevent uncontrolled inflammation and tissue damage. Our objective was to investigate plasma levels of IL-1β and IL-37 in patients with severe haemophilia with different severities of HA. Methods Peripheral blood samples were collected from 14 patients with severe haemophilia A and 6 with severe haemophilia B, and 18 healthy individuals. Plasma levels of IL-1β and IL-37 were detected by immunoassay, and severity of HA was evaluated using the Pettersson scoring system. Plasma levels of IL-1β and IL-37 were analysed in patients with severe haemophilia grouped by Pettersson score and in healthy individuals. Results Plasma levels of IL-1β and IL-37 were significantly higher in patients with severe haemophilia compared with healthy individuals and significantly lower in those with moderate to severe HA than in those with no or mild HA. Conclusions Plasma levels of IL-1β and IL-37 may be useful to track HA progression in patients with severe haemophilia.

BACKGROUND The genetic background of patients with hemoglobin (Hb) H disease in Taiwan has been investigated; however, the clinical features and treatment outcomes were not reported. OBJECTIVE To analyze the clinical features and genotypes of patients with HbH who reside in Taiwan. METHODS We conducted a retrospective analysis of the clinical and molecular characteristics of 38 patients with HbH disease who were undergoing treatment at Kaohsiung Medical University Hospital, Taiwan. RESULTS Initial Hb levels were lower and the numbers of patients requiring iron-chelation therapy were higher in the nondeletional HbH group than in the deletional HbH group (P

Autoimmune cytopenia (AIHA, AITP or AIN) were uncommon paraneoplastic manifestations of HL and have been recognized in patients after HSCT with dismal outcome. We presented a case of 16-yr-old male with Hodgkin's lymphoma who developed severe AIC involving all three cell lineages after autologus bone marrow transplantation. No disease relapse was noted. Treatments with steroid, IVIG and immunosuppresants were in vain and the disease course was complicated with sepsis and deep vein thrombosis. Rituximab was administered along with broad-spectrum antibiotics and low-molecular weight heparin. The condition became stable and pancytopenia recovered after four doses of rituximab treatment. Severe multi-lineage AIC post HSCT is usually refractory to first-line treatment and difficult to manage. Second-line treatment, such as rituximab, and dedicated care for pancytopenia-induced or treatment-related complications may provide a better outcome.

Background/Aims Transfusion dependent subjects are at a great risk of viral hepatitis infection. We aimed to evaluate the prevalence and factors associated with hepatitis B virus (HBV) and hepatitis C virus (HCV) infection among transfusion-dependent patients in Taiwan. Methods A total of 140 patients (67 thalassemic patients, 70 hemophilic patients, two patients with hereditary spherocytosis and one patient with von Willebrand disease) were prospectively enrolled to evaluate the prevalence and factors associated with viral hepatitis and spontaneous HCV clearance. All patients were tested for HBV and HCV serology and virology. Two consecutive serum samples, at least 1 year apart, were collected to clarify HCV seroclearance. Results The seropositivity rate of hepatitis B surface antigen (HBsAg), HCV antibody (anti-HCV), and both HBsAg/anti-HCV were 6.4%, 45.7% and 5%, respectively. Logistic regression analysis of factors associated with anti-HCV seropositivity included age (odds ratio/95% confidence interval [OR/CI]: 1.12/1.07–1.18, P

Background/Aims Hepatitis C virus (HCV) prevails in patients with thalassemia. We aimed to investigate the efficacy, safety, and impact on red blood cells (RBC) transfusion demand of pegylated interferon (Peg-IFN)/ribavirin therapy in thalassemic patients with HCV. Methods This retrospective study included 18 thalassemic patients (16 with HCV-1b, one HCV-1b/2b, and one HCV-2b) and 54 consecutive sex- and genotype-matched controls. Patients with HCV-2, or HCV-1 or mixed HCV-1/2 with lower viral loads plus rapid virological response (RVR) received 24-week Peg-IFN/ribavirin; whereas HCV-1 or mixed HCV-1/2 with higher viral loads or without RVR received 48-week regimens. Results The rates of RVR, complete early virological response, and sustained virological response (SVR) in thalassemic patients were 72.2% (13/18), 94.1% (16/17), and 77.8% (14/18), which resembled those of controls (63.0%, 94.4%, and 81.5%, respectively). RVR was the only significant factor associated with SVR in thalassemic group, and was the strongest predictor for SVR among both groups (OR/95% CI = 14.7/2.20–98.6), followed by male gender and lower viral loads. More proportion of interleukin-28B-TT carriage were observed among thalassemic patients with SVR versus non-SVR (78.6% vs. 50.0%). Thalassemic patients experienced significantly less 80/80/80 adherence, more ribavirin reduction and serious adverse events than controls. Notably, there was a decreased post-treatment RBC transfusion demand versus baseline in thalassemic patients with SVR (5.21 vs. 5.64 units/month, p = 0.05), but not in those without SVR (6.33 vs. 6.56 units/month, p = 0.54). Conclusion Peg-IFN/ribavirin was effective and tolerable for thalassemic HCV patients. Successful antiviral therapy might have extra benefit of reducing the post-treatment transfusion demand.

Facial reconstruction is a branch of forensic anthropology used to assist in the identification of skeletal remains. The majority of facial reconstruction techniques use facial soft tissue depth chart data to recreate facial tissue on a skull or a model of a skull through the use of modeling clay. This study relied on 193 subjects selected from the Taiwanese population on the basis of age and gender to determine the average values of 32 landmarks, include midline and bilateral measures, by means of CT scans. The mean age of the subjects was 46.9±16.4 years, with a mean age of 43.8±16.6 for males and 49.9±15.8 for females respectively. There were 16 landmarks with statistically significant differences between male and female subjects, namely S, G, N, Na, Ph, Sd and Id in the midline portion, FE, LO, ZA and Sub M2 in the bilateral-right and left portion, and IM point in the bilateral-left portion (abbreviations adapted from Karen T. Taylor's work). The mean soft tissue depth was greater in males than in females, and there was significant difference between the right and left sides of the face in Za point. This study's findings were compared with those of Bulut et al.

Stress fracture of the diaphysis of the ulna is rare and only 6 cases were found in a literature review. We present a further case occurring in a weightlifter.

The aim of this study was to develop hepatocyte-targeting non-viral polymeric nono-carriers for gene delivery. Chitosan was selected as the main polymer. An asialoglycoprotein receptor recognized sugar, galactose, was introduced. The methoxy poly(ethylene glycol) (mPEG) or short chain poly(ethylene glycol) diacid (PEGd) was further grafted onto galactosylated chitosan. All polyplex possessed positive charge character. The compaction of DNA by grafted chitosan was in order of chitosan-galactose-mPEG > chitosan-galactose-PEGd > chitosan-galactose where the chitosan-galactose-mPEG and pDNA formed the most stable polyplex. The polyplex prominently enhanced DNA cellular transfection as compared to naked DNA in HepG2 cells in order of chitosan-galactose/pDNA (11.6 ± 0.6–33.0 ± 4.4%) > chitosan-galactose-PEGd/pDNA (12.7 ± 2.5–15.5 ± 3.0%) > chitosan-galactose-mPEG/pDNA (9.0 ± 1.1–12.9 ± 2.4%).