scholarly journals Factor IX Level in Various Conditions

1977 ◽  
Author(s):  
J.J. Veltkamp
Keyword(s):  
Clinical Symptoms ◽  
Factor Ix ◽  
Activity Level ◽  
Hemophilia B ◽  
First Year ◽  
Clotting Factors ◽  
Slow Rise ◽  
First Year Of Life ◽  
Substantial Rise ◽  
Abrupt Rise

In newborns the factor IX level is only 20-60% of that observed in adults. This implies that factor IX levels have to increase with age, as was demonstrated already by Simpson and Biggs (1962). A rapid rise might occur in the first year of life, as is the case for albumen. During life, then, a slow rise continues, as was also demonstrated for factors V and VII (Brozovic 1976, 1974). It is of special interest that for factors VII and IX, both vitamin K dependant clotting factors, not onlyage but also hormones influence the activity level. Both the oestrogen containing contraceptive pill and pregnancy cause a substantial rise in factor IX level, both activity and CRM. 7 Years ago we started to measure factor IX levels every 3 months in 10 children, now at the age of 19, to see whether an abrupt rise would occur during puberty; this was not so. This information was considered relevant for the explanation of the appearance of factor IX activity and CRM in patients with hemophilia B Leyden during puberty. After a rise from <1% to 20% factor IX in the age period from 15 to 20 factor IX continues to rise at a slower rate and may reach 50% in old age. Clinical symptoms disappear. There is no good explanation for this phenomenon that occurs in patients from two probably related kindreds with hemophilia B in The Netherlands.

Usefulness of plasma pregnenolone sulfate in testing pituitary-adrenal function in children

1986 ◽  
Vol 113 (4_Suppl) ◽  
pp. S259-S263 ◽  
Author(s):  
E. de Peretti ◽  
M.G. Forest ◽  
B. Loras ◽  
Y. Morel ◽  
M. David ◽  
...  
Keyword(s):  
Normal Subjects ◽  
Adrenal Function ◽  
Pituitary Function ◽  
First Year ◽  
Dynamic Tests ◽  
Pregnenolone Sulfate ◽  
Pituitary Diseases ◽  
First Year Of Life ◽  
Dexamethasone Suppression ◽  
Abrupt Rise

SUMMARY In normal subjects, plasma pregnenolone sulfate (PS) levels high at birth, decreased during the first year of life in relation to the pattern of involution of the fetal adrenal zone. Thereafter, PS levels, in contrast with those of DHAS, did not show the abrupt rise characteristic of the adrenarche, but increased very progressively till adulthood. The response of PS to various provocative tests of adrenal and pituitary function (ACTH and Metyrapone stimulation, dexamethasone suppression), has been established in normal subjects. The measurement of plasma PS levels in basal conditions as well as in response to dynamic tests was very useful in the diagnosis of various adrenal and pituitary diseases in children.

scholarly journals Maternal Anxiety and Depression and Development of Prematurely Born Infants in the First Year of Life

2008 ◽  
Vol 11 (2) ◽  
pp. 600-608 ◽  
Author(s):  
Ana Emilia Vita Carvalho ◽  
Francisco Eulógio Martinez ◽  
Maria Beatriz Martins Linhares
Keyword(s):  
Neonatal Intensive Care ◽  
Normal Development ◽  
Clinical Symptoms ◽  
Anxiety And Depression ◽  
Depression Symptoms ◽  
First Year ◽  
Term Infants ◽  
Motor Problems ◽  
First Year Of Life ◽  
Cognitive Problems

The purpose of this study was: (a) to assess and to compare anxiety and depression symptoms in mothers of pre-term neonates during hospitalization in the Neonatal Intensive Care Unit, after discharge, and at the end of the infants' first year of life; and (b) to assess the child's development at 12 months of chronological corrected age (CCA). Thirty-six mothers, with no psychiatric antecedents assessed with the SCID-NP, were evaluated by STAI and BDI. The infants were assessed with Bayley-II Scales. There was a significant decrease in clinical symptoms of state-anxiety in mothers (p = .008), comparing the period during hospitalization and after discharge of the infants. Clinical symptoms of anxiety and depression were observed in 20% of the mothers at the end of the infants' first year of age. The majority of the infants exhibited normal development on Bayley-II at 12 months CCA; however, 25% of the infants displayed cognitive problems and 40% motor problems. The mothers' anxiety and depression symptoms decreased at the end of the first year of life of the pre-term infants and the children showed predominately normal development at this phase.

PECULIARITIES OF COVID-19 IN CHILDREN OF DIFFERENT AGE GROUPS

2020 ◽  
Vol 99 (6) ◽  
pp. 141-147
Author(s):  
E.I. Krasnova ◽  
◽  
G.S. Karpovich ◽  
T.V. Komissarova ◽  
I.I. Izvekova ◽  
...  
Keyword(s):  
Clinical Picture ◽  
Pediatric Patients ◽  
Clinical Symptoms ◽  
Clinical Course ◽  
Age Groups ◽  
Epidemiological Data ◽  
First Year ◽  
High Incidence ◽  
First Year Of Life ◽  
Specific Symptoms

Materials and methods: a pilot open observational prospective study of 218 pediatric patients with laboratory-verified COVID-19 diagnosis was performed. The main epidemiological data were analyzed, including the age structure, as well as the features of the clinical course of this disease. The development of COVID-19 pneumonia was recorded in 11,5% of cases (25 patients), while more often pneumonia was recorded in children of the first year of life, as well as over 12 years of age (23,5% and 20% of cases, respectively) than in children of other age groups (p<0,05). CT-1 stage was recorded in 13 patients (52% of cases), CT-2 stage in 10 patients (40% of cases), CT-3 stage in 2 patients (8% of cases). The leading clinical symptoms of COVID-19 in children were: hyperemia of the mucous membranes of the pharynx – 100% of cases (218 patients); increased body temperature – 95,9% of cases (209 patients), while the average figures were 37,6 (36,6; 38,2)0 С; cough – 19,7% of cases (43 patients, of which 21 with pneumonia); diarrhea – 17,9% of cases (39 patients); vomiting – 6,4% of cases (14 patients); change in the auscultatory picture – 3,7% of cases (8 patients with pneumonia). In infants with COVID-19, diarrhea was more often recorded in comparison with patients in the age group over 13 years old (35% and 4% of cases, respectively; p=0,001). The development of cough was less often recorded in children of the first year of life, in Compared with patients over 13 years of age (9% and 40% of cases, respectively; p=0,004), the same trend was observed in COVID-19 pneumonia (25% and 89% of cases, respectively, p=0,02). Thus, the clinical picture of COVID-19 in pediatric patients is characterized by non-specific symptoms. There is a definite trend towards more frequent development of COVID-19 pneumonia in patients in the first year of life, as well as in puberty. Infants with COVID-19 pneumonia are characterized by a high incidence of atypical course of the disease, while adolescents are more likely to show a manifest clinical picture of COVID-19.

scholarly journals A COMPARATIVE STUDY OF HEMOPHILIA A VERSUS HEMOPHILIA B IN GOVERNMENT MEDICAL COLLEGE, KADAPA

2019 ◽  
Vol 3 (9) ◽  
Author(s):  
Dr. B. Naga Raja ◽  
Dr. G. Sobha Rani
Keyword(s):  
Hemophilia A ◽  
Factor Ix ◽  
Hemophilia B ◽  
Clotting Factor ◽  
Recessive Trait ◽  
Government Medical College ◽  
Clotting Factors ◽  
Blood Samples ◽  
Medical College ◽  
Blotting Paper

Introduction: Hemophilia is a genetic bleeding disorder caused by deficiency of clotting factor VIII (Hemophilia A) or Factor IX (Christmas disease) or Factor XI (Hemophilia C). Hemophilia is a X linked recessive trait with defective F8 an F9 genes in long arm of X chromosome. Hemophilia can also be acquired due to development of antibodies directed against the clotting factors. Aim: To compare the prevalence of Hemophilia A and Hemophilia B. Materials and Methods: The present study is done over a period of two years i.e., from 2016 to 2018. During the above period 130 cases were studied. Among these 112 cases (86.1%) were Hemophilia A and 18 cases (13.8%) were Hemophilia B. Requirement of materials: Capillary tubes, Blotting paper, Blood samples, Sprit and cotton. Results: In the present study we registered 130 cases of Hemophilia.  Among these 112 cases (86.1%) were Hemophilia A and 18 cases (13.8%) were Hemophilia B. Keywords: Blood sample, Hemophilia A, Hemophilia B, Kadapa

Hemophilia

2016 ◽  
Author(s):  
Aric Parnes ◽  
Lisa Rotenstein
Keyword(s):  
Hemophilia A ◽  
Clinical Manifestations ◽  
Factor Ix ◽  
Hemophilia B ◽  
Bleeding Disorders ◽  
Clotting Factors ◽  
Acute Bleeding ◽  
Clotting Cascade ◽  
Viii And Ix

Hemophilia is a family of rare bleeding disorders characterized by deficiency of clotting factors. Hemophilia A is an inherited deficiency of factor VIII, whereas hemophilia B (Christmas disease) represents a deficiency of factor IX. Both hemophilia A and B are X-linked diseases, with hemophilia A accounting for 80 to 85% of cases and hemophilia B 15 to 20%. Although hemophilia has historically referred to deficiencies of factors VIII and IX, it is important to recognize that similar bleeding disorders can occur with other missing clotting factors, although this is far more rare. This review covers the definition, history, epidemiology, biology/genetics, clinical manifestations, diagnosis, differential diagnosis, treatment, complications, measures of quality of care, and prognosis of hemophilia, as well as future directions. Figures show the clotting cascade, the genetic makeup of severe hemophilia A, an algorithm for diagnosing hemophilia, and hemophilic arthropathy in a patient’s knees. Tables list severity in hemophilia A and B, treatment of acute bleeding in hemophilia A and B, frequency of dosing in acute bleeding, and treatment of acute bleeding with inhibitors. This review contains 4 highly rendered figures, 4 tables, and 59 references.

scholarly journals AMT-060 Gene Therapy in Adults with Severe or Moderate-Severe Hemophilia B Confirm Stable FIX Expression and Durable Reductions in Bleeding and Factor IX Consumption for up to 5 Years

Blood ◽  
2020 ◽  
Vol 136 (Supplement 1) ◽  
pp. 26-26
Author(s):  
Frank W.G. Leebeek ◽  
Karina Meijer ◽  
Michiel Coppens ◽  
Peter Kampmann ◽  
Robert Klamroth ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Board Of Directors ◽  
Research Funding ◽  
Factor Ix ◽  
Hemophilia B ◽  
First Year ◽  
Severe Hemophilia ◽  
Advisory Committees ◽  
The Mean

Background: Gene therapy aims to provide long-term therapeutic benefit from a single administration. AMT-060 is an adeno-associated virus serotype 5 (AAV5) vector with a codon-optimized wildtype human factor IX (FIX) gene and liver-specific promoter. AMT-060 is being evaluated in an ongoing study of 10 participants with severe/moderate-severe hemophilia B (Phase 1/2 study, NCT02396342) over 5 years. Aim: To describe efficacy and safety outcomes from an analysis at up to 5-years post-AMT-060. Methods: Adult males with FIX activity ≤2% and a severe bleeding phenotype received a single intravenous infusion of AMT-060 (5x1012 gc/kg, Cohort 1, n=5) or (2×1013 gc/kg, Cohort 2, n=5). Assessments included FIX activity, FIX replacement use, annualized bleeding rate (ABR), treatment-related adverse events (TRAE), immunological and inflammatory biomarkers up to 5 years (Cohort 1) and 4.5 years (Cohort 2). Results: As of November 2019, for Cohort 1 the mean FIX activity (at 4.0 years) was 5.1% as compared to 4.4% in the first year, 6.8% in the second year, 7.3% in the third year and 7.0% in the fourth year. Mean FIX activity for Cohort 2 was 7.5% as compared to 7.1% in the first year, 8.4% in the second year 7.9% in the third year, and 7.4% in the fourth year. Eight of 9 participants using prophylaxis at baseline were able to discontinue use. During the last 12, and 6 months of observation respectively, the mean annualized bleed rate (ABR) was 3.3. for Cohort 1 and 0.0 for Cohort 2. These represent, respectively, a reduction in mean ABR to the year prior to treatment of 77% and 100% for Cohort 1 and Cohort 2. During this same period the consumption of FIX replacement therapy declined 90% and 100% relative to pre-treatment, respectively for Cohort 1 and Cohort 2. No participants developed FIX inhibitors or signs of sustained AAV5 capsid-specific T-cell activation. As previously reported, TRAE were mainly reported in the first 3.5 months after treatment, including three participants who experienced transient mild elevations in alanine aminotransferase. One additional TRAE (joint swelling post-exercise) was observed during the last 12 months of observation post-treatment. Updated data, up to 5-years of observation, will be presented for the first time. Conclusions: Long-term stable endogenous FIX activity and reductions in ABR and FIX replacement use were sustained over multiple years following a single treatment with AMT-060. There were no additional safety concerns with longer term follow-up. This data supports the ongoing Phase 3 study of the enhanced construct etranacogene dezaparvovec (AMT-061), which encodes the highly active Padua FIX variant. Disclosures Meijer: Bayer: Research Funding; Sanquin: Research Funding; Pfizer: Research Funding; Bayer: Speakers Bureau; Sanquin: Speakers Bureau; Boehringer Ingelheim: Speakers Bureau; BMS: Speakers Bureau; Aspen: Speakers Bureau; Uniqure: Consultancy. Kampmann:Uniqure: Speakers Bureau; Shire Pharmaceuticals: Speakers Bureau. Klamroth:CSL Behring: Research Funding, Speakers Bureau; Novo Nordisk: Consultancy, Research Funding, Speakers Bureau; Octapharma: Consultancy, Research Funding, Speakers Bureau; Pfizer: Consultancy, Research Funding, Speakers Bureau; Roche: Consultancy, Speakers Bureau; Takeda/Shire: Consultancy, Research Funding, Speakers Bureau; Sobi: Consultancy, Speakers Bureau; Biotest: Speakers Bureau; Grifols: Speakers Bureau; Biomarin: Consultancy, Research Funding, Speakers Bureau; Bayer: Consultancy, Research Funding, Speakers Bureau. Castaman:Novo Nordisk: Honoraria, Speakers Bureau; Roche: Consultancy, Honoraria, Speakers Bureau; Pfizer: Honoraria, Research Funding; Ablynx: Honoraria; Alexion: Honoraria; Bayer: Honoraria; CSL Behring: Honoraria, Research Funding; Kedrion: Speakers Bureau; Sobi: Honoraria, Research Funding, Speakers Bureau; Uniqure: Honoraria, Membership on an entity's Board of Directors or advisory committees; Werfen: Speakers Bureau; Baxalta/Shire: Honoraria. Bönig:Celgene: Consultancy, Membership on an entity's Board of Directors or advisory committees; Genzyme: Consultancy, Membership on an entity's Board of Directors or advisory committees; Healthineers: Current equity holder in publicly-traded company; Sandor-Hexal: Consultancy, Honoraria, Membership on an entity's Board of Directors or advisory committees, Research Funding; Polyphor: Research Funding; Miltenyi: Honoraria, Research Funding; Erydel: Research Funding; Chugai: Honoraria, Research Funding; Bayer: Research Funding; Terumo BCT: Consultancy, Honoraria, Membership on an entity's Board of Directors or advisory committees, Research Funding; Kiadis: Honoraria; Uniqure: Research Funding; Novartis: Consultancy, Honoraria, Membership on an entity's Board of Directors or advisory committees; Stage: Consultancy, Membership on an entity's Board of Directors or advisory committees, Research Funding; Fresenius: Honoraria; medac: Consultancy, Honoraria, Membership on an entity's Board of Directors or advisory committees, Patents & Royalties. Sawyer:uniQure: Current Employment. Miesbach:UniQure: Consultancy, Honoraria, Membership on an entity's Board of Directors or advisory committees, Speakers Bureau; Pfizer: Consultancy, Honoraria, Membership on an entity's Board of Directors or advisory committees, Research Funding, Speakers Bureau; BioMarin Pharmaceutical Inc: Consultancy, Honoraria, Membership on an entity's Board of Directors or advisory committees, Speakers Bureau; Bayer: Consultancy, Honoraria, Membership on an entity's Board of Directors or advisory committees, Research Funding, Speakers Bureau. OffLabel Disclosure: AMT-060 = AAV5 vector gene therapy in subjects with moderate to severe hemophilia B

Recombinant Adeno-Associated Viral Vectors Expressing Human Coagulation FIX-E456H Variant in Hemophilia B Mice

2019 ◽  
Vol 119 (12) ◽  
pp. 1956-1967
Author(s):  
Sandra Le Quellec ◽  
Allison P. Dane ◽  
Elena Barbon ◽  
Jean-Claude Bordet ◽  
Federico Mingozzi ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Liver Toxicity ◽  
Specific Activity ◽  
Factor Ix ◽  
Activity Level ◽  
Hemophilia B ◽  
Suitable Alternative ◽  
Chromogenic Assay ◽  
Human Factor Ix

AbstractGene therapy using recombinant adeno-associated virus (AAV) has induced sustained long-term coagulation human factor IX (hFIX) levels in hemophilia B (HB) patients. However, asymptomatic transient liver toxicity was observed at high vector doses, highlighting the need to improve the potency of these vectors. We report the generation of an AAV transgene cassette containing the hyperfunctional hFIX-E456H variant showing improved binding to platelets, with a comparison to wild-type hFIX (hFIX-WT) and hFIX-R384L variant (Padua) transgenes, containing F9 truncated-intron 1 (I1). In vitro specific activity was increased by 3.2- and 4.2-fold with hFIX-E456H and hFIX-R384L variants compared with hFIX-WT, using chromogenic assay, and by 7-and 8.6-fold with hFIX-E456H and hFIX-R384L variants compared with hFIX-WT, using one-stage assay. The transgenes were packaged into single-stranded AAV2/8 vectors that were tail vein injected at 5 × 109, 2 × 1010, and 5 × 1010 vg per mouse in HB mice. Plasma FIX activity level, assessed by chromogenic assay, was up to fourfold higher for hFIX-E456H compared with hFIX-WT and was not different compared with hFIX-R384L, among the three dose cohorts. Overall, the in vivo specific activity was increased by threefold for hFIX-E456H and 4.9-fold for hFIX-R384L compared with hFIX-WT. At the lower dose of 5 × 109 vg, the blood loss was significantly lower for hFIX-E456H compared with hFIX-WT, but did not differ compared with hFIX-R384L. The results found for the hFIX-E456H variant indicate that it might be a suitable alternative for gene therapy of HB.

scholarly journals High Prevalence of Neutrophil Cytoplasmic Autoantibodies in Infants with Food Protein-Induced Proctitis/Proctocolitis: Autoimmunity Involvement?

2015 ◽  
Vol 2015 ◽  
pp. 1-8 ◽  
Author(s):  
Alena Sekerkova ◽  
Martin Fuchs ◽  
Eva Cecrdlova ◽  
Veronika Svachova ◽  
Ivana Kralova Lesna ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Clinical Symptoms ◽  
Specific Ige ◽  
Control Group ◽  
First Year ◽  
Food Protein ◽  
Noninvasive Test ◽  
High Prevalence ◽  
First Year Of Life ◽  
Control Samples

Background.Food protein-induced proctitis/proctocolitis (FPIP) is the most common noninfectious colitis in children in the first year of life. Along with the overall clinical symptoms, diarrhoea and rectal bleeding are the main manifestations of the disease. There is no routine noninvasive test that would be specific for this type of colitis. The aim of our study was to find a noninvasive laboratory test or tests that may be helpful in differential diagnosis of food protein-induced proctitis/proctocolitis.Methods.ANA, ANCA, ASCA, a-EMA, a-tTg, specific IgE, total IgE, IgG, IgA, IgM, and concentration of serum calprotectin were measured in a group of 25 patients with colitis and 18 children with other diagnoses.Results.Atypical-pANCA antibodies of IgG isotype were detected in the sera of 24 patients by the method of indirect immunofluorescence, and 5 patients showed also the positivity of IgA isotype. In control samples these autoantibodies were not detected. Other autoantibodies were not demonstrated in either patient or control group.Conclusions.Of the parameters tested in noninfectious colitis, atypical-pANCA on ethanol-fixed granulocytes appears to be a suitable serological marker of food protein-induced proctitis/proctocolitis and suggests a possible involvement of an autoimmune mechanisms in the pathogenesis of this disease.

Age dependency for coagulation parameters in paediatric populations

2016 ◽  
Vol 116 (07) ◽  
pp. 9-16 ◽  
Author(s):  
Pierre Toulon ◽  
Micheline Berruyer ◽  
Marie Brionne-François ◽  
François Grand ◽  
Dominique Lasne ◽  
...  
Keyword(s):  
Age Groups ◽  
Technical Condition ◽  
Specific Reference ◽  
First Year ◽  
Reference Ranges ◽  
Test Results ◽  
Coagulation Test ◽  
Clotting Factors ◽  
First Year Of Life ◽  
Thrombotic Diseases

SummaryUnderstanding of developmental haemostasis is critical to ensure optimal prevention, diagnosis, and treatment of haemorrhagic and thrombotic diseases in children. As coagulation test results are known to be dependent on the reagents/analysers used, it is recommended for each laboratory to define the age-dependent reference ranges by using its own technical condition. That study was carried out in seven centers to establish age-specific reference ranges using the same reagents and analyser. Plasma samples were obtained from 1437 paediatric patients from the following age groups: 15 days-4 weeks (n=36), 1–5 months (n=320), 6–12 months (n=176), 1–5 years (n=507), 6–10 years (n=132) and 11–17 years (n=262). Indication of coagulation testing was pre-operative screening for non-acute diseases in most cases. PT values were similar in the different age groups to those in adults, whereas longer aPTTs were demonstrated in the younger children. Plasma levels of all clotting factors, except for FV, were significantly decreased (p<0.0001) in the youngest children, adult values being usually reached before the end of the first year. The same applied to antithrombin, protein C/S, and plasminogen. In contrast, FVIII and VWF levels were elevated in the youngest children and returned to adult values within six months. The same applied to D-dimer levels, which were found elevated, particularly until six months of life, until puberty. These data suggest that most coagulation test results are highly dependent on age, mainly during the first year of life, and that age-specific reference ranges must be used to ensure proper evaluation of coagulation in children.

The Development of Swallowing Respiratory Coordination

2009 ◽  
Vol 18 (1) ◽  
pp. 19-24
Author(s):  
Maggie-Lee Huckabee
Keyword(s):  
Cortical Activation ◽  
First Year ◽  
Healthy Children ◽  
Nasal Airflow ◽  
Single Session ◽  
Primary Finding ◽  
Patterns Of Behavior ◽  
Cortical Modulation ◽  
First Year Of Life ◽  
Swallowing Apnea

Abstract Research exists that evaluates the mechanics of swallowing respiratory coordination in healthy children and adults as well and individuals with swallowing impairment. The research program summarized in this article represents a systematic examination of swallowing respiratory coordination across the lifespan as a means of behaviorally investigating mechanisms of cortical modulation. Using time-locked recordings of submental surface electromyography, nasal airflow, and thyroid acoustics, three conditions of swallowing were evaluated in 20 adults in a single session and 10 infants in 10 sessions across the first year of life. The three swallowing conditions were selected to represent a continuum of volitional through nonvolitional swallowing control on the basis of a decreasing level of cortical activation. Our primary finding is that, across the lifespan, brainstem control strongly dictates the duration of swallowing apnea and is heavily involved in organizing the integration of swallowing and respiration, even in very early infancy. However, there is evidence that cortical modulation increases across the first 12 months of life to approximate more adult-like patterns of behavior. This modulation influences primarily conditions of volitional swallowing; sleep and naïve swallows appear to not be easily adapted by cortical regulation. Thus, it is attention, not arousal that engages cortical mechanisms.

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