Relatively little is known about thrombotic adverse events (AEs) of emicizumab in postmarketing real-world settings, particularly comparison with factor VIII (FVIII) products. A recent European study reported a potentially greater risk compared FVIII

Monoclonal antibodies against TNFα, including infliximab, adalimumab, golimumab, and certolizumab pegol, are widely used for the treatment of inflammatory diseases such as rheumatoid arthritis bowel disease. Recently, crystal structures in complex with Fab fragments infliximab have revealed molecular mechanisms these antibody drugs. Here, we report structure TNFα fragment pegol to clarify precise antigen-antibody interactions structural basis neutralization by this therapeutic antibody. The...

BAFF, a member of the TNF superfamily, has been recognized as good target for autoimmune diseases. Belimumab, an anti-BAFF monoclonal antibody, was approved by FDA use in treating systemic lupus erythematosus. However, molecular basis BAFF neutralization belimumab remains unclear. Here our crystal structure BAFF-belimumab Fab complex shows precise epitope and BAFF-neutralizing mechanism belimumab, demonstrates that therapeutic activity involves not only antagonizing BAFF-receptor...

The assessment of health-related quality life (HRQoL) as a patient-reported outcome provides information about the patients' general well-being well effects disease and its treatment. This study aimed to investigate HRQoL using both generic haemophilia-specific QoL instruments assess clinical factors associated with among haemophilia patients in Korea. In this cross-sectional, multicenter, observational study, moderate-to-severe aged 8–64 years were recruited between November 2012 September...

ABSTRACT Introduction Reports on patients’ satisfaction and preferred characteristics for treatments would be worthwhile when choosing an optimal treatment reflecting perspectives. Aim To identify the patterns of patients with haemophilia A, or their caregivers, in Korea explore patient preferences treatment. Methods This cross‐sectional, multicentre, observational study was conducted from April 2018 to September 2019 at six nationwide hospitals three Hemophilia Foundation clinics. Patients...

Summary Haemophilia A ( HA ) is an X‐linked recessive bleeding disorder caused by defects in the F8 gene encoding coagulation factor VIII. Mutation analysis important to confirm diagnosis, genotype‐phenotype correlations and for genetic counselling family study. The aim of this study was detect causative mutations severe patients Korea correlate mutation type with risk inhibitor development. total 100 unrelated Korean were enrolled Nijeman modification Bethesda assay used determine presence...

Background/Aims: Chronic hepatitis C (CHC) is a major comorbidity in patients with hemophilia.Methods: Patients (n=30) were enrolled between September 2015 and April 2016.Twenty-six genotype 1 (1b, n=21; 1a, n=5) four 2a/2b.Among 21 1b, Y93H resistance-associated variants (RAVs) detected three (14.3%).We evaluated sustained virologic response (SVRs) at 12 weeks, as well relapse safety.Results: Five 1a 1b (RAV positive) received ledipasvir/sofosbuvir for weeks.SVR12 rate was 100% (8/8).Eleven...

Inhibitory antibodies to factor VIII (FVIII) are an important complication when managing patients with hemophilia A. Immune tolerance induction (ITI) has been regarded as a useful method for eradicating inhibitors. We report the results of retrospective study in Korean A who underwent ITI.We reviewed records inhibitors ITI from March 2004 December 2014. was started FVIII concentrates at 100 IU/kg, 3 times per week. The dose reduced according inhibitor titer and recovery FVIII. Inhibitor...

Objective To assess the clinical outcome of chemical synovectomy with rifampicin in hemophilic arthropathy by using World Federation Hemophilia (WFH) scoring system and plain radiograph. Methods We performed (RS) on 30 joints 28 patients diagnosed as stage I–III (based Fernandez-Palazzi classification). Clinical status (bleeding frequency, pain, joint physical status) radiological staging were evaluated parts WFH before 1 year after RS. The divided into two groups Arnold-Hilgartner scale...

Summary Mothers of hemophilic children are under stressful situations because the characteristics disease and inheritance. The purpose this study was to evaluate effect self‐help group program for mothers children. Fifty one were participated. experiment ( n = 24) participated in 5 weeks, while control 27) received a booklet only. Knowledge, self‐efficacy, depression, parenting stress, quality life evaluated using questionnaires. Data analyzed χ 2 ‐test, t analysis covariance ancova )....

Hemophilia B is an X-linked bleeding disorder caused by deficient coagulation factor IX from a mutation in the F9 gene. Here, we report family with two brothers having severe hemophilia inherited mother low-level somatic mosaicism of mutation. The proband was 2-year-old boy hemizygous F9, c.464G>A (p.Cys155Tyr). He first child and considered sporadic case based on lack history diathesis. His tested for carrier status determined to be homozygous wild-type genotypes (noncarrier). Subsequently,...

The intensity of nociceptive stimuli reflects the severity tissue injury. anaesthetic requirement and stress hormonal responses were determined to learn whether they differ according different surgical approaches (anterior vs. posterior) during spinal surgery.Patients undergoing lumbar spine surgery without neurological deficits divided into two groups: one having posterior (n=13) other anterior fusion (n=13). end-tidal sevoflurane concentrations (ET(SEVO)) required maintain bispectral index...

Hemophilia A is an X-linked recessive bleeding disorder caused by mutations in the F8 gene. typically occurs male individuals, but female patients with hemophilia have rarely been reported. Here we describe molecular characteristics of three unrelated severe Korean descent. Patient 1 was a 5-year-old girl and found to be compound heterozygous for intron 22 inversion inherited from her father large deletion mutation mother. The detected multiplex ligation-dependent probe amplification...

Abstract Background A disease-causing mutation refers to a heritable genetic change that is associated with specific phenotype (disease). The detection of from patient's sample critical for the diagnosis, treatment, and prognosis disease. There are numerous databases applications which archive data. However, none them have been implemented any automated bioinformatics tools analysis starting raw data materials patients. We present Locus Specific DB (LSDB) construction system supports both...

Background Immune tolerance induction (ITI) can reduce inhibitors against factor VIII concentrates by 70-80%. In this study, we elucidated the characteristics of and attempted to determine proper indications timing for ITI. Methods Subjects included hemophilia A patients registered at Korea Hemophilia Foundation from 1991 through 2014. Inhibitors were classified as persistent transient. Patients into groups according peak inhibitor titer: low (<2 BU/mL), moderate (2 <5 high (5 <10 very titer...

Coagulation factor VII (FVII) deficiency is a rare hereditary coagulopathy caused by mutations in the F7 gene. The aims of this study were to characterize molecular defect Korean patients with FVII and find genotype-phenotype correlations. Study individuals consisted 14 unrelated residual activities ranging from 1 34%. To identify causative mutations, we performed PCR amplification direct sequencing all exons flanking sequences In patients, one (N = 4) or two 10) mutant alleles identified. A...

Myotubularin-related proteins are a large family of phosphoinositide phosphatases; their activity, stability and subcellular localization regulated by dimeric interactions with other members the family. Here, crystal structure phosphatase domain MTMR8 is reported. Conformational deviation two loops that mediate interaction PH-GRAM suggests interacts differently each MTMR member. The protein exists as dimer twofold symmetry, providing insight into novel mode dimerization mediated domain....

The First Case of Postpartum Acquired Hemophilia A in KoreaAcquired hemophilia (AHA) is a rare coagulopathy caused by autoantibodies to coagulation factor VIII (FVIII).Most patients with AHA have been previously healthy; however, variety morbidities associated the condition including pregnancy.A 40-yr-old woman visited our institution extensive hematoma on right hip area.Her medical history revealed no personal or familial bleeding diathesis.Her tests showed markedly prolonged aPTT (117...

See the commentary-article "Hepatitis C virus infection in patients with hemophilia Korea: Is antiviral therapy effective and safe?" on page 122.

New B-domain deleted third generation recombinant factor VIII (FVIII; GreenGene F™, beroctocog alfa) was launched in 2010. We determined safety and efficacy of F™ during routine clinical practice patients with hemophilia A over a period 12 months. From July 2010 to 2014, total 136 were enrolled post-marketing surveillance (PMS) study. Among them, 134 assessed for drug 114 analyzed efficacy. Patients differing severities medical histories monitored months prophylactic and/or on-demand...