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Inheritable molecular variants of moderate and mild hemophilia A
Factor VIII clotting activity (VIII:C) and factor VIII clotting antigen (VIII:CAg) were investigated in 54 patients with hemophilia A of moderate or mild severity. The patients belonged to 28 kindreds. The study showed a genetically determined molecular variation within hemophilia A of both moderate and mild forms. Each form can be classified into 3 types according to the content of demonstrable V
Prenatal diagnosis of hemophilia B by an immunoradiometric assay of factor IX
An immunoradiometric assay of factor IX was developed based on homologous antibodies that arose in a hemophilic patient. With this assay, 11 of 12 patients with severe hemophilia B had factor IX antigen levels below 1 U/dl and 6 patients with mild hemophilia B had various levels. Factor IX antigen in 8 fetuses (16th-20th gestational week) aborted for therapeutic reasons ranged from 1.8 to 10.0 U/d
Fanconi's anaemia associated with haemophilia A
Fanconi's anaemia and haemophilia A are born inherited diseases creating haemostatic defects. The association of these two rare diseases in one patient is described. The patient's haemophilia was studied with a newly developed immunological technique determining the plasma antigen associated with Factor VIII activity, and was found to be a genetic variant of moderately severe haemophilia A. It was
A New Genus of Rhysipoline Wasp (Hymenoptera Braconidae) with Modified Wing Venation from Africa and Papua New Guinea, Parasitoid on Choreutidae (Lepidoptera)
Troporhysipolis gen. nov. with four included species is described and illustrated. The type species, Clinocentrus antefurcalis Granger, 1949, is Afrotropical with unknown biology. We additionally recognise three new species from eastern lowland of Papua New Guinea, T. brenthiaphagus sp. nov., T. markshawi sp. nov. and T. molecularis sp. nov., all three of which were reared from leaf-rolling larvae
The importance of long-distance dispersal and establishment events in small insects : Historical biogeography of metalmark moths (Lepidoptera, Choreutidae)
Aim: To determine the importance of different biogeographical processes (vicariance, dispersal, long-distance dispersal and establishment or LDDE) for the current distribution of metalmark moths, a group of small insects, using a time-calibrated molecular tree. Location: Global. Methods: We sampled 104 species of metalmark moths with representatives from all six major biogeographical regions of th
Purification of F.VIII:C by antigen-antibody chromatography
Purification of F.VIII:C devoid of F.VIII:Ag was achieved by antigen-antibody chromatography. The antibody used neutralized VIIIR:Ag but not VIII:C in liquid phase but extracted both VIII:Ag and VIII:C from plasma when bound to Sepharose. VIII:C was eluted with calcium-containing buffer. When plasma was used as starting material VIII:C was obtained free from VIIIR:Ag but contaminated with some oth
Two allotypes of factor IX present in haemophilia B
Factor IX antigen (IX:Ag) was measured with three different immunoradiometric assays (IRMAs) in 30 healthy people and 43 patients with haemophilia B of varying severity. Two of the IRMAs were based on monoclonal antibodies capable of differentiating between two genetically determined molecular variants of normal factor IX. Most patients with severe hemophilia B lacked demonstrable IX:Ag. The facto
Platelet-associated IgG in childhood idiopathic thrombocytopenic purpura : measurements on intact and solubilized platelets and after gammaglobulin treatment
An immunoradiometric assay was developed for determining platelet-associated IgG (PAIgG) both on intact and solubilized platelets. In 20 healthy subjects PAIgG was 0.28 ± 0.20 ng/106 platelets and 2.2 ± 1.1 ng/106 platelets on intact and on solubilized platelets, respectively. 13 children with acute ITP all had increased concentrations of PAIgG, but no correlation was found between the severity of
Carrier detection in hemophilia A : a cooperative international study. II. The efficacy of a universal discriminant
Factor VIII (F.VIII) and von Willebrand factor (VWF):Ag data collected by eight laboratories on a total of 336 obligatory carriers of hemophilia A and 137 normal women were used to answer several questions concerning the construction of linear discriminants for carrier detection. It was found: that a "universal" linear discriminant can be constructed which is suitable for use in all laboratories a
Carrier detection in hemophilia A : a cooperative international study. I. The carrier phenotype
Eight laboratories in six countries cooperated to clarify several issues concerning the phenotypes of heterozygous carriers of hemophilia "A." Plasma levels of factor VIII (F.VIII:C, formerly VIII:C) and von Willebrand factor (VWF:Ag, formerly VIIIR:Ag) of carriers and normal women were determined by various "in-house" methods; a single lyophilized plasma standard was used for all assays. Analysis
How do carriers of hemophilia experience prenatal diagnosis (PND)? : Carriers' Immediate and later reactions to amniocentesis and fetal blood sampling
A semistructured personal interview was performed with 29 carriers of hemophilia A or B, 1-5 years after a pregnancy in which prenatal diagnosis (PND) was performed by fetal blood sampling. Fetal blood sampling by fetoscopy was significantly more often reported by the women to the more trying than expected than was ultrasound-guided heart puncture. Of 29 women 13 was classified as having experienc
How do carriers of hemophilia experience prenatal diagnosis by fetal blood sampling?
A semistructured personal interview was performed with 29 carriers of hemophilia A or B, 1-4 years after a pregnancy in which prenatal diagnosis (PND) of hemophilia was performed by fetal blood sampling. The carriers had received different recommendations regarding future pregnancies, and 14/29 did not know before they became pregnant that PND by fetal blood sampling was possible. One third of the
Global, regional, and national levels of maternal mortality, 1990-2015 : a systematic analysis for the Global Burden of Disease Study 2015
BACKGROUND: In transitioning from the Millennium Development Goal to the Sustainable Development Goal era, it is imperative to comprehensively assess progress toward reducing maternal mortality to identify areas of success, remaining challenges, and frame policy discussions. We aimed to quantify maternal mortality throughout the world by underlying cause and age from 1990 to 2015.METHODS: We estim
Global, regional, and national comparative risk assessment of 79 behavioural, environmental and occupational, and metabolic risks or clusters of risks, 1990-2015 : a systematic analysis for the Global Burden of Disease Study 2015
BACKGROUND: The Global Burden of Diseases, Injuries, and Risk Factors Study 2015 provides an up-to-date synthesis of the evidence for risk factor exposure and the attributable burden of disease. By providing national and subnational assessments spanning the past 25 years, this study can inform debates on the importance of addressing risks in context.METHODS: We used the comparative risk assessment
Global, regional, and national disability-adjusted life-years (DALYs) for 315 diseases and injuries and healthy life expectancy (HALE), 1990-2015 : a systematic analysis for the Global Burden of Disease Study 2015
BACKGROUND: Healthy life expectancy (HALE) and disability-adjusted life-years (DALYs) provide summary measures of health across geographies and time that can inform assessments of epidemiological patterns and health system performance, help to prioritise investments in research and development, and monitor progress toward the Sustainable Development Goals (SDGs). We aimed to provide updated HALE a
Global, regional, and national incidence, prevalence, and years lived with disability for 310 diseases and injuries, 1990-2015 : a systematic analysis for the Global Burden of Disease Study 2015
BACKGROUND: Non-fatal outcomes of disease and injury increasingly detract from the ability of the world's population to live in full health, a trend largely attributable to an epidemiological transition in many countries from causes affecting children, to non-communicable diseases (NCDs) more common in adults. For the Global Burden of Diseases, Injuries, and Risk Factors Study 2015 (GBD 2015), we
Global, regional, and national life expectancy, all-cause mortality, and cause-specific mortality for 249 causes of death, 1980-2015 : a systematic analysis for the Global Burden of Disease Study 2015
BACKGROUND: Improving survival and extending the longevity of life for all populations requires timely, robust evidence on local mortality levels and trends. The Global Burden of Disease 2015 Study (GBD 2015) provides a comprehensive assessment of all-cause and cause-specific mortality for 249 causes in 195 countries and territories from 1980 to 2015. These results informed an in-depth investigati
Measuring the health-related Sustainable Development Goals in 188 countries : a baseline analysis from the Global Burden of Disease Study 2015
BACKGROUND: In September, 2015, the UN General Assembly established the Sustainable Development Goals (SDGs). The SDGs specify 17 universal goals, 169 targets, and 230 indicators leading up to 2030. We provide an analysis of 33 health-related SDG indicators based on the Global Burden of Diseases, Injuries, and Risk Factors Study 2015 (GBD 2015).METHODS: We applied statistical methods to systematic
