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https://www.readbyqxmd.com/read/27868395/genetic-diagnosis-in-hemophilia-a-from-southern-china-five-novel-mutations-and-one-preimplantation-genetic-analysis
#1
J Chen, J Wang, X Y Lin, Y W Xu, Z H He, H Y Li, S Q Chen, W Y Jiang
INTRODUCTION: As there is currently no complete cure for hemophilia A (HA), the identification of pathogenic mutations in factor VIII (FVIII) gene from HA patients and carriers, which can contribute to genetic counseling prenatal diagnosis, and preimplantation genetic diagnosis (PGD), is an important step to prevent HA. METHODS: A total of 14 unrelated Chinese HA subjects (FVIII activity <40%), 20 carrier subjects, three fetuses, and one PGD were included in this study...
November 21, 2016: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/27863665/biodegradable-hydrophilic-carriers-for-the-oral-delivery-of-hematological-factor-ix-for-hemophilia-b-treatment
#2
Sarena D Horava, Katie J Moy, Nicholas A Peppas
Current protein replacement therapies for hemophilia B, a genetic bleeding disorder caused by a deficiency in coagulation factor IX, rely on IV injections and infusions. Oral delivery of factor IX is a desirable needle-free option, especially for prophylaxis. We have developed a biodegradable, pH-responsive hydrogel microcarrier system based on the poly(methacrylic acid)-grafted-poly(ethylene glycol) [P(MAA-g-EG)]. Incorporation of an enzymatically degradable peptide crosslinking agent allows for site-specific degradation by trypsin in the small intestine...
November 30, 2016: International Journal of Pharmaceutics
https://www.readbyqxmd.com/read/27813214/complications-of-haemophilia-in-babies-first-two-years-of-life-a-report-from-the-centers-for-disease-control-and-prevention-universal-data-collection-system
#3
R Kulkarni, R J Presley, J M Lusher, A D Shapiro, J C Gill, M Manco-Johnson, M A Koerper, T C Abshire, D DiMichele, W K Hoots, P Mathew, D J Nugent, S Geraghty, B L Evatt, J M Soucie
AIM: To describe the prevalence and complications in babies ≤2 years with haemophilia. METHODS: We used a standardized collection tool to obtain consented data on eligible babies aged ≤2 years with haemophilia enrolled in the Centers for Disease Control and Prevention Universal Data Collection System surveillance project at US Hemophilia Treatment Centers (HTCs). RESULTS: Of 547 babies, 82% had haemophilia A, and 70% were diagnosed within one month of birth...
November 4, 2016: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/27812259/genotyping-of-intron-inversions-and-point-mutations-in-exon-14-of-the-fviii-gene-in-iranian-azeri-turkish-families-with-hemophilia-a
#4
Mahmoud Shekari Khaniani, Abdollah Ebrahimi, Setareh Daraei, Sima Mansoori Derakhshan
Hemophilia A (HA) is an inherited X-linked bleeding disorder caused by a variety of mutations that are distributed throughout the large FVIII gene (F8). The most common mutations in studied populations with severe HA are introns 22 and 1 inversions, gross exon deletions and point mutations in exon 14. The aim of this study was to define the frequency of these common mutations in Iranian population of Azeri Turkish in North West of Iran. Fifty patients with severe HA and forty-three female potential carriers were genotyped by inverse shifting polymerase chain reaction (IS-PCR), long-range PCR, multiplex PCR, and sequencing methods for the detection of Intron 22 and 1 inversions, gross exon deletions, and exon 14 point mutations, respectively...
December 2016: Indian Journal of Hematology & Blood Transfusion
https://www.readbyqxmd.com/read/27638987/joint-sogc-ccmg-opinion-for-reproductive-genetic-carrier-screening-an-update-for-all-canadian-providers-of-maternity-and-reproductive-healthcare-in-the-era-of-direct-to-consumer-testing
#5
R Douglas Wilson, Isabelle De Bie, Christine M Armour, Richard N Brown, Carla Campagnolo, June C Carroll, Nan Okun, Tanya Nelson, Rhonda Zwingerman, Francois Audibert, Jo-Ann Brock, Richard N Brown, Carla Campagnolo, June C Carroll, Isabelle De Bie, Jo-Ann Johnson, Nan Okun, Melanie Pastruck, Karine Vallée-Pouliot, R Douglas Wilson, Rhonda Zwingerman, Christine Armour, David Chitayat, Isabelle De Bie, Sara Fernandez, Raymond Kim, Josee Lavoie, Norma Leonard, Tanya Nelson, Sherry Taylor, Margot Van Allen, Clara Van Karnebeek
OBJECTIVE: This guideline was written to update Canadian maternity care and reproductive healthcare providers on pre- and postconceptional reproductive carrier screening for women or couples who may be at risk of being carriers for autosomal recessive (AR), autosomal dominant (AD), or X-linked (XL) conditions, with risk of transmission to the fetus. Four previous SOGC- Canadian College of Medical Geneticists (CCMG) guidelines are updated and merged into the current document. INTENDED USERS: All maternity care (most responsible health provider [MRHP]) and paediatric providers; maternity nursing; nurse practitioner; provincial maternity care administrator; medical student; and postgraduate resident year 1-7...
August 2016: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/27596108/genetic-diagnosis-in-hemophilia-and-von-willebrand-disease
#6
Laura L Swystun, Paula D James
Phenotypic assays are first-line in terms of diagnostic testing for inherited bleeding disorders. However, since the characterization of the genes that encode coagulation factors in the 1980s, significant progress has been made in translating this knowledge for diagnostic and therapeutic purposes. For the hemophilias, molecular genetic testing can be used to determine carrier status, establish a prenatal diagnosis and predict the likelihood of inhibitor development or anaphylaxis in response to infused coagulation factor concentrates...
August 17, 2016: Blood Reviews
https://www.readbyqxmd.com/read/27477789/study-of-six-patients-with-complete-f9-deletion-characterized-by-cytogenetic-microarray-role-of-the-sox3-gene-in-intellectual-disability
#7
Y Jourdy, N Chatron, M L Carage, M Fretigny, S Meunier, C Zawadzki, V Gay, C Negrier, D Sanlaville, C Vinciguerra
BACKGROUND: Large deletions encompassing both the complete F9 gene and contiguous genes have been detected in patients with severe hemophilia B (HB). Some of these patients present other clinical features, such as intellectual disability (ID). OBJECTIVES/METHODS: In this study, we characterized six unrelated large deletions encompassing F9, by cytogenetic microarray analysis (CMA), to investigate genotype/phenotype correlation. RESULTS: Five of the six patients included in this study presented ID associated with HB...
August 1, 2016: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/27472376/treatment-of-hemophilia-a-qualitative-study-of-mothers-perspectives
#8
Charlotte von der Lippe, Jan C Frich, Anna Harris, Kari Nyheim Solbraekke
BACKGROUND: In Norway, boys with hemophilia usually begin treatment after their first bleeding episode. Boys with severe hemophilia usually start prophylactic treatment around 18-24 months. Health professionals administer factor concentrate initially, but when boys are around 4 years old most parents start treating their children at home. There is a lack of research on how parents, and especially how carrier mothers, experience the medical treatment for their sons' hemophilia. Our aim was to investigate how carrier mothers experience this treatment in the hospital setting and at home...
July 29, 2016: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/27455009/-detection-and-genetic-counseling-of-f8-gene-inversions-for-patients-with-severe-hemophilia-a
#9
Nan Bai, Qinghua Wu, Ning Liu, Duo Chen, Zhenhua Zhao, Xiangdong Kong
OBJECTIVE: Inversions of intron 1 (Inv1) or intron 22 (Inv22) of the coagulation factor VIII gene (F8) may be found in 40%-50% of patients with severe hemophilia A. Such inversions cannot be detected by conventional sequencing. Due to homologous recombination, family-based linkage analysis may yield false positive or false negative results. In this study, Inverse-shifting PCR (IS-PCR) was used to detect potential inversions in two families affected with hemophilia A. METHODS: Peripheral venous blood, fetal amniotic fluid and fetal chorionic cells were harvested for genome DNA extraction...
August 2016: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/27446547/evaluation-of-factor-viii-polymorphic-short-tandem-repeat-markers-in-linkage-analysis-for-carrier-diagnosis-of-hemophilia-a
#10
Sabina Shrestha, Sufang Dong, Zuhua Li, Zhuliang Huang, Fang Zheng
Hemophilia A (HA) is the most common inherited X-linked recessive bleeding disorder caused by heterogeneous mutations in the factor VIII gene (FVIII). Diagnosis of the carrier is critical for preventing the birth of children affected by this coagulation disorder, which ultimately facilitates its management. Due to the heterogeneous nature of mutations, the large inversions and the complexity of the FVIII gene, direct recognition of the disease-associated mutation in HA is complex. Indirect linkage analysis using highly informative heterozygous polymorphic markers is an alternative method for determining the co-segregation of the mutant gene within a family for carrier detection of HA...
August 2016: Biomedical Reports
https://www.readbyqxmd.com/read/27418638/outcomes-in-patients-with-hemophilia-and-von-willebrand-disease-undergoing-invasive-or-surgical-procedures
#11
John Chapin, Jaqueline Bamme, Fraustina Hsu, Paul Christos, Maria DeSancho
Adults with hemophilia A (HA), hemophilia B (HB), and von Willebrand disease (VWD) frequently require surgery and invasive procedures. However, there is variability in perioperative management guidelines. We describe our periprocedural outcomes in this setting. A retrospective chart review from January 2006 to December 2012 of patients with HA, HB, and VWD undergoing surgery or invasive procedures was conducted. Type of procedures, management including the use of continuous factor infusion, and administration of antifibrinolytics were reviewed...
July 14, 2016: Clinical and Applied Thrombosis/hemostasis
https://www.readbyqxmd.com/read/27085601/uncomplicated-abortion-with-mifepristone-and-misoprostol-in-a-hemophilia-a-carrier
#12
Melody Y Hou
Little evidence exists regarding medical abortion for women with inherited bleeding disorders. A 21-year-old primigravid hemophilia A carrier desired a medical abortion. After counseling, she chose medical abortion, which occurred without excess bleeding or surgical intervention.
August 2016: Contraception
https://www.readbyqxmd.com/read/27011057/parents-experiences-with-requesting-carrier-testing-for-their-unaffected-children
#13
Danya F Vears, Clare Delany, John Massie, Lynn Gillam
PURPOSE: International guidelines generally recommend delaying genetic carrier testing in children until the child reaches the age of majority or is mature enough to be involved in the decision. Several studies have shown that carrier testing of children does occur in some instances, particularly in siblings of a child affected with a genetic condition. However, little research has explored parents' experiences with the testing process, the impact of knowing a child's carrier status, and whether parents communicate carrier information to their children...
December 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/26883955/design-of-ph-responsive-biomaterials-to-enable-the-oral-route-of-hematological-factor-ix
#14
Sarena D Horava, Nicholas A Peppas
The oral administration of hematological factor IX (FIX) can offer a convenient prophylactic treatment for hemophilia B patients. pH-Responsive hydrogels based on poly(methacrylic acid)-grafted-poly(ethylene glycol) (P(MAA-g-EG)) have been engineered as delivery vehicles for FIX. In oral delivery, such hydrogel carriers protected FIX from the gastric environment and released it under intestinal conditions as demonstrated by evaluation of the loading and release of FIX. Tailoring of the hydrogel networks improved the loading of FIX within the microcarriers, which is critical for minimizing protein degradation...
June 2016: Annals of Biomedical Engineering
https://www.readbyqxmd.com/read/26783323/a-novel-human-autoimmune-syndrome-caused-by-combined-hypomorphic-and-activating-mutations-in-zap-70
#15
Alice Y Chan, Divya Punwani, Theresa A Kadlecek, Morton J Cowan, Jean L Olson, Erin F Mathes, Uma Sunderam, Shu Man Fu, Rajgopal Srinivasan, John Kuriyan, Steven E Brenner, Arthur Weiss, Jennifer M Puck
A brother and sister developed a previously undescribed constellation of autoimmune manifestations within their first year of life, with uncontrollable bullous pemphigoid, colitis, and proteinuria. The boy had hemophilia due to a factor VIII autoantibody and nephrotic syndrome. Both children required allogeneic hematopoietic cell transplantation (HCT), which resolved their autoimmunity. The early onset, severity, and distinctive findings suggested a single gene disorder underlying the phenotype. Whole-exome sequencing performed on five family members revealed the affected siblings to be compound heterozygous for two unique missense mutations in the 70-kD T cell receptor ζ-chain associated protein (ZAP-70)...
February 8, 2016: Journal of Experimental Medicine
https://www.readbyqxmd.com/read/26691666/haemophilia-a-and-cardiovascular-morbidity-in-a-female-sham-syndrome-carrier-due-to-skewed-x-chromosome-inactivation
#16
Szymon Janczar, Joanna Kosinska, Rafal Ploski, Agata Pastorczak, Olga Wegner, Beata Zalewska-Szewczyk, Adam J W Paige, Maciej Borowiec, Wojciech Mlynarski
We have recently described a severe haemophilia A and moyamoya (SHAM) syndrome caused by Xq28 deletions encompassing F8 and the BRCC3 familial moyamoya gene. The phenotype includes haemophilia A, moyamoya angiopathy, dysmorphia and hypertension. The genetic analysis of the family of our SHAM patient demonstrated carrier state in proband's mother and sister. The patient's mother is apparently well, whereas his currently 18-years-old sister presents with mild haemophilia A, coarctation of the aorta, hypertension, and ventricular arrhythmia...
January 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/26637715/using-genetic-diagnostics-in-hemophilia-and-von-willebrand-disease
#17
REVIEW
Laura L Swystun, Paula James
Most bleeding disorders encountered in clinical practice will be diagnosed, at least initially, by phenotypic assays. However, since the characterization of the genes that encode coagulation factors in the 1980s, significant progress has been made in translating this knowledge for diagnostic and therapeutic purposes. For hemophilia A and B, molecular genetic testing to determine carrier status, prenatal diagnosis, and likelihood of inhibitor development or anaphylaxis to infused coagulation factor concentrates is an established component of comprehensive clinical management...
2015: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/26525378/-treatment-of-haemophilia-in-austria
#18
Ingrid Pabinger, Max Heistinger, Wolfgang Muntean, Sylvia-Elisabeth Reitter-Pfoertner, Sabine Rosenlechner, Thomas Schindl, Gerhard Schuster, Werner Streif, Katharina Thom, Christoph Male
This guideline which is endorsed by the Austrian Society of Haemophilia, the Austrian Society of Paediatrics, and the Austrian Society of Haematology & Medical Oncology is intended to give a clear and practical guidance for diagnosing and treating haemophilia in Austria. In the treatment of haemophilia there are few controlled interventional trials, and recommendations usually have a rather low level of evidence.The main basis for this paper are the new international guidelines by the World Federation of Hemophilia, published in 2013...
November 2015: Wiener Klinische Wochenschrift
https://www.readbyqxmd.com/read/26345748/application-of-indirect-linkage-analysis-and-direct-genotyping-to-hemophilia-a-carrier-detection-in-sichuan-china
#19
P Sun, L Ma, G Diao, C Q Li, F Z Lin
Hemophilia A (HA) is an inherited X-linked bleeding disorder caused by mutations in the factor VIII gene. Prenatal detection in female carriers from families with HA is important to reduce the number of HA patients. The purpose of this study was to detect carriers in families with HA from Sichuan, China, using linkage analysis and a direct genotyping method. A total of 18 HA families were studied. Using a combination of intron 22 inversion, intron 1 inversion, the BclI polymorphic site in intron 18, the HindIII polymorphic site in intron 19, and dinucleotide CA-repeat markers in introns 1, 13, 22, and 24, we were able to detect HA in 88...
2015: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/26302233/low-cost-industrial-production-of-coagulation-factor-ix-bioencapsulated-in-lettuce-cells-for-oral-tolerance-induction-in-hemophilia-b
#20
Jin Su, Liqing Zhu, Alexandra Sherman, Xiaomei Wang, Shina Lin, Aditya Kamesh, Joey H Norikane, Stephen J Streatfield, Roland W Herzog, Henry Daniell
Antibodies (inhibitors) developed by hemophilia B patients against coagulation factor IX (FIX) are challenging to eliminate because of anaphylaxis or nephrotic syndrome after continued infusion. To address this urgent unmet medical need, FIX fused with a transmucosal carrier (CTB) was produced in a commercial lettuce (Simpson Elite) cultivar using species specific chloroplast vectors regulated by endogenous psbA sequences. CTB-FIX (∼1 mg/g) in lyophilized cells was stable with proper folding, disulfide bonds and pentamer assembly when stored ∼2 years at ambient temperature...
November 2015: Biomaterials
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