A5063231477- Hemophilia Treatment and Research
- Platelet Disorders and Treatments
- Chronic Myeloid Leukemia Treatments
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Hemostasis and retained surgical items
- Chronic Lymphocytic Leukemia Research
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Cancer-related gene regulation
- Blood groups and transfusion
- Agriculture, Plant Science, Crop Management
- Blood Coagulation and Thrombosis Mechanisms
- Porphyrin Metabolism and Disorders
- Immunodeficiency and Autoimmune Disorders
- Venous Thromboembolism Diagnosis and Management
- Blood disorders and treatments
- Clinical Laboratory Practices and Quality Control
- Genetic Syndromes and Imprinting
- Connective tissue disorders research
- Diabetes Management and Research
- Pregnancy and Medication Impact
- Integrated Water Resources Management
- Medical Imaging and Pathology Studies
- Blood properties and coagulation
- Antiplatelet Therapy and Cardiovascular Diseases
- finance, banking, and market dynamics
Instytut Hematologii i Transfuzjologi
2015-2025
Erythropoietic protoporphyria (EPP) is an autosomal recessive disorder of the heme biosynthesis pathway caused by pathogenic variants in FECH gene resulting a decreased activity ferrochelatase. Liver involvement observed 5%–20% patients harbouring loss-of-function and its manifestations are heterogeneous, ranging from mildly elevated liver transaminases, cholelithiasis to severe acute cholestatic hepatitis/liver failure. This paper presents case Polish infant with EPP associated two novel...
Female hemophilia is an intriguing rare disorder and few larger reports on its genetic etiology are available. While historically the diagnosis was satisfactorily reached by factor VIII activity assays, clinical potentially therapeutic heterogeneity of female calls for comprehensive molecular in each case. Currently, investigations not a part routine, state-funded, diagnostics Poland, thus epidemiological data missing.We set out to perform analysis Polish females with A.Eighteen A (including...
Platelet function disorders (PFD) are a rare and heterogeneous group of hemorrhagic diathesis. Comprehensive diagnostics impaired platelet (PLT) — the so called thrombocytopathy requires use special testing. The gold standard for measurement/diagnostics is light transmission aggregometry (LTA). A agonist (ADP, arachidonic acid, collagen, ristocetin, epinephrine) added at an appropriate concentration to sample platelet-rich plasma. interaction with leads activation subsequent aggregation....
Recognising haemorrhagic disorders is a complex process which entails using an accurate personal medical or family history, meticulous physical examination and selecting the appropriate laboratory tests for making final diagnosis. This paper describes currently applicable principles diagnosis of bleeding disorders, specially emphasising how findings are interpreted. In last part we present diagnostic algorithms that integrate patient's history with results regarding hemostasis.
Abstract Monoallelic pathogenic HMBS variants are a well‐established cause of acute intermittent porphyria (AIP), whereas biallelic may ‐related leukoencephalopathy which remains poorly characterized disorder. We describe an 8‐year‐old girl with hypotonia, hearing impairment, horizontal nystagmus, bilateral strabismus, impaired visual acuity, and optic nerve atrophy. She had no epilepsy but sleep electroencephalogram showed paroxysmal changes in the right hemisphere secondary...
Hemophilia A is a genetically determined bleeding disorder, caused by deficiency, lack or dysfunction of plasma coagulation factor VIII. Approximately in 45–50% severe haemophilia patients excessive tendency the occurrence inversion mutation intron 22 (INV22) F8 gene and about 1–5% – 1 (INV1). In this paper we present results study aimed to assess prevalence INV22 INV1 HA Poland estimate incidence FVIII inhibitor with mutations. Moreover, role genetic testing diagnosis hemophilia as well...
Acquired hemophilia A is an autoimmune disease caused by antibodies against coagulation factor VIII (FVIII). These antibodies, called circulating FVIII anticoagulant or inhibitor, reduce plasma activity, which results in excessive bleeding. classified as severe hemorrhagic disorder. Typical for this are extensive subcutaneous spontaneous blood extravasations, intramuscular and retroperitoneal hematomas, post- -traumatic bleeds, including post-surgery In approximately 30% of cases, acquired...
Hemophilia B is genetically determined bleeding disorder caused by lack of or decrease plasma synthesis coagulation factor IX (fIX). Commonly this disease recognized based on the clotting test results, in particular measuring fIX activity. Molecular testing gene should represent an integral part modern hemophilia diagnostics, because identification causative mutation gives opportunity to preliminary assess risk alloantibodies (inhibitor) formation and a clear-cut diagnosis carrier status....
Spośród wrodzonych niedoborów czynników krzepnięcia krwi tylko hemofilia A i B dziedziczą się w sposób recesywny sprzężony z płcią. Objawy skazy krwotocznej występują głównie u mężczyzn, kobiety zaś najczęściej są bezobjawowymi nosicielkami cechy hemofilii. Istnieją jednak stany kliniczne, których ryzyko krwawienia nosicielek hemofilii wzrasta; należą do nich między innymi poród połóg. Ustalenie rozpoznania nosicielstwa przed ciążą umożliwia wybór optymalnej strategii postępowania okresie...