Clinical spectrum of glanzmann. Medical search. Frequent questions

Glanzmann thrombasthenia is quite rare, is inherited in an autosomal recessive manner, and is observed most often in populations that have increased consanguinity. (medscape.com)

[ 2 ] The disorder is named after Dr. Eduard Glanzmann, who first described it in 1918. (medscape.com)
The disorder was first described by Dr. Eduard Glanzmann in 1918. (medscape.com)

Glanzmann thrombasthenia is rare and it is inherited in an autosomal recessive pattern. (medscape.com)

[ 5 ] Acquired Glanzmann thrombasthenia is characterized by anti-αIIbβ3 autoantibodies or paraproteins that block platelet aggregation. (medscape.com)

Phase II clinical trials to determine immune responses with optimized adjuvant drugs and continued administration are expected to demonstrate efficacy. (bvsalud.org)
Works about clinical trials that involve at least one test treatment and one control treatment, concurrent enrollment and follow-up of the test- and control-treated groups, and in which the treatments to be administered are selected by a random process, such as the use of a random-numbers table. (lookformedical.com)
In the last two decades several integrin-targeted drugs have made their way into clinical use, many others are in clinical trials and still more are showing promise as they advance through preclinical development. (thno.org)

Mutations in the ITGA2B or ITGB3 gene cause Glanzmann thrombasthenia. (medlineplus.gov)
Nurden AT, Fiore M, Nurden P, Pillois X. Glanzmann thrombasthenia: a review of ITGA2B and ITGB3 defects with emphasis on variants, phenotypic variability, and mouse models. (medlineplus.gov)

Autism is a neurodevelopmental disorder characterized by clinical, etiologic and genetic heterogeneity. (neurotransmitter.net)

Glanzmann thrombasthenia (GT) is a rare platelet disorder in which the platelets have qualitative or quantitative deficiencies of the fibrinogen receptor αIIbβ3. (medscape.com)
Glanzmann thrombasthenia is a bleeding disorder that is characterized by prolonged or spontaneous bleeding starting from birth. (medlineplus.gov)

Patients with Glanzmann thrombasthenia can have severe bleeding problems, but their prognosis remains good with appropriate supportive care and platelet transfusions if necessary. (medscape.com)
Bleeding problems can be severe in patients with Glanzmann thrombasthenia, but the prognosis remains good with appropriate supportive care. (medscape.com)
A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis. (sjelden.no)

Two homozygous missense mutations in ITGB3 gene as a cause of Glanzmann Thrombasthenia in four consanguineous Pakistani pedigrees. (edu.pk)

Glanzmann thrombasthenia is normally of no clinical significance in patients who are heterozygous for this condition. (medscape.com)
Purpose : This study was conducted to assess clinical practices related to the evaluation and treatment of patients with acute gastrointestinal infection(AGI) in infants and children. (e-cep.org)
The aim of this study was to clarify the clinical manifestation, progression and the brain SPECT patterns in patients with acute ME. (e-cep.org)
We provide patients and their families with a variety of information about referrals and clinical services. (ufhealth.org)

DRKS00015178 (registered at the German Clinical Trial Registry), date of registration: 09.11.2018. (biomedcentral.com)

Glanzmann thrombasthenia can also cause prolonged bleeding following injury, trauma, or surgery (including dental work). (medlineplus.gov)
The severity and frequency of the bleeding episodes in Glanzmann thrombasthenia can vary greatly among affected individuals, even in the same family. (medlineplus.gov)

FMF type 2 is characterized by amyloidosis as the first clinical manifestation of FMF in an otherwise asymptomatic individual. (beds.ac.uk)

For a review of pregnancy in women with Glanzmann thrombasthenia, see Siddiq et al. (medscape.com)

Purpose : We aimed to investigate the clinical manifestations of and antibiotic resistance in culture-proven childhood salmonellosis. (e-cep.org)
Methods : Clinical manifestations and laboratory data of and antibiotic use in subjects with culture-proven childhood salmonellosis, who were treated at the Chonbuk National University Hospital between September 1998 and August 2008, were analyzed retrospectively. (e-cep.org)

Dr. French is involved in a broad spectrum of projects using these cells to model human development and disease. (chop.edu)

His clinical interests include nonunions, periarticular fractures, fractures of the pelvis and acetabulum, and infections. (stanford.edu)

This study confirmed the safety and tolerability of HPL-APCs in advanced and recurrent cancers refractory to standard therapy and is the first clinical report to demonstrate the immunoinducibility of personalized cancer vaccines using HPL-APCs. (bvsalud.org)

We predicted human leukocyte antigen (HLA)-compatible cancer antigen candidate peptides based on patient-specific cancer genomic profiles and performed a Phase I clinical trial for the safety and tolerability of cancer vaccines with human platelet lysate-induced antigen-presenting cells (HPL-APCs) from peripheral monocytes. (bvsalud.org)

Platelet transfusion is the standard treatment for severe bleeding and perioperative hemostasis in patients with Glanzmann thrombasthenia. (medscape.com)
As platelet counts are normal in Glanzmann thrombasthenia, response to platelet transfusions must be assessed functionally, principally by monitoring for clinical reduction in bleeding. (medscape.com)
Because patients often require multiple transfusions during their lifetime, they are at risk for developing antiplatelet alloantibodies targeting human leukocyte antigens (HLAs) or glycoproteins (GPIIb/IIIa) that are deficient in patients with Glanzmann thrombasthenia. (medscape.com)
The US Food and Drug Administration (FDA) has approved rFVIIa (NovoSeven RT) for treatment of bleeding episodes and perioperative management in adults and children with Glanzmann thrombasthenia that is refractory to platelet transfusions, with or without antibodies to platelets. (medscape.com)
Patients with Glanzmann thrombasthenia who require surgical intervention should receive platelet transfusions preoperatively, to prevent excessive bleeding during surgery. (medscape.com)
Acquired Glanzmann thrombasthenia: From antibodies to anti-platelet drugs. (medscape.com)
Linkage disequilibrium amongst ITGA2B and ITGB3 gene variants in patients with Glanzmann thrombasthenia confirms that most disease-causing mutations are recent. (nih.gov)
Molecular genetic diagnosis of Tunisian Glanzmann thrombasthenia patients reveals a common nonsense mutation in the ITGA2B gene that seems to be specific for the studied population. (nih.gov)
Novel mutations in Thai patients with glanzmann thrombasthenia. (nih.gov)
Should studies on Glanzmann thrombasthenia not be telling us more about cardiovascular disease and other major illnesses? (nih.gov)
Glanzmann thrombasthenia (GT) is a rare platelet disorder in which the platelets have qualitative or quantitative deficiencies of the fibrinogen receptor αIIbβ3. (medscape.com)
[ 5 ] Acquired Glanzmann thrombasthenia is characterized by anti-αIIbβ3 autoantibodies or paraproteins that block platelet aggregation. (medscape.com)
Glanzmann thrombasthenia is normally of no clinical significance in patients who are heterozygous for this condition. (medscape.com)
There may a slightly higher female preponderance for Glanzmann thrombasthenia. (medscape.com)
For a review of pregnancy in women with Glanzmann thrombasthenia, see Siddiq et al. (medscape.com)
Patients with Glanzmann thrombasthenia can have severe bleeding problems, but their prognosis remains good with appropriate supportive care and platelet transfusions if necessary. (medscape.com)
The goals of pharmacotherapy in patients with Glanzmann thrombasthenia are to induce active immunity, reduce morbidity, and prevent complications. (medscape.com)
It is indicated for treatment of bleeding episodes and perioperative management in adults and children with Glanzmann thrombasthenia with refractoriness to platelet transfusions, with or without antibodies to platelets. (medscape.com)
Nurden AT, Fiore M, Nurden P, Pillois X. Glanzmann thrombasthenia: a review of ITGA2B and ITGB3 defects with emphasis on variants, phenotypic variability, and mouse models. (medscape.com)
Nurden AT, Pillois X. ITGA2B and ITGB3 gene mutations associated with Glanzmann thrombasthenia. (medscape.com)
Fiore M, Pillois X, Nurden P, Nurden AT, Austerlitz F. Founder effect and estimation of the age of the French Gypsy mutation associated with Glanzmann thrombasthenia in Manouche families. (medscape.com)
Siddiq S, Clark A, Mumford A. A systematic review of the management and outcomes of pregnancy in Glanzmann thrombasthenia. (medscape.com)
King LJ, Huff J, Heber D, Miller MA, Marshall B. Management of Refractory Menstrual Bleeding in an Adolescent with Glanzmann Thrombasthenia: A Case Report and Review. (medscape.com)
Poon MC, Di Minno G, d'Oiron R, Zotz R. New Insights Into the Treatment of Glanzmann Thrombasthenia. (medscape.com)
The international, prospective Glanzmann Thrombasthenia Registry: treatment modalities and outcomes of non-surgical bleeding episodes in patients with Glanzmann thrombasthenia. (medscape.com)
The international, prospective Glanzmann Thrombasthenia Registry: treatment and outcomes in surgical intervention. (medscape.com)
Anti-α IIb β 3 immunization in Glanzmann thrombasthenia: review of literature and treatment recommendations. (medscape.com)
Glanzmann's thrombasthenia: the spectrum of clinical disease. (medscape.com)
The Glanzmann Thrombasthenia (GT) and Bernard-Soulier Syndrome (BSS) are rare hereditary disorders of platelet function. (scielo.br)
The Glanzmann Thrombasthenia (GT) is a rare inherited disorder of platelet function causing quantitative or qualitative defects of the platelet membrane glycoprotein (GP) IIb-IIIa (αIIbβ3) complex. (scielo.br)
Glanzmann thrombasthenia and Bernard Soulier syndrome in children and adults. (scielo.br)
Glanzmann thrombasthenia is a bleeding disorder that is characterized by prolonged or spontaneous bleeding starting from birth. (medlineplus.gov)
People with Glanzmann thrombasthenia tend to bruise easily, have frequent nosebleeds (epistaxis), and may bleed from the gums. (medlineplus.gov)
Glanzmann thrombasthenia can also cause prolonged bleeding following injury, trauma, or surgery (including dental work). (medlineplus.gov)
The severity and frequency of the bleeding episodes in Glanzmann thrombasthenia can vary greatly among affected individuals, even in the same family. (medlineplus.gov)
Glanzmann thrombasthenia is estimated to affect 1 in one million individuals worldwide, but may be more common in certain groups, including those of Romani ethnicity, particularly people within the French Manouche community. (medlineplus.gov)
Mutations in the ITGA2B or ITGB3 gene cause Glanzmann thrombasthenia. (medlineplus.gov)
Three types of Glanzmann thrombasthenia have been classified according to the amount of integrin αIIbβ3 that is available. (medlineplus.gov)
The Rationale: Glanzmann thrombasthenia is a rare platelet disorder affecting 0.0001% of the population. (bvsalud.org)
Patient Concerns: In this case report, a 4-year-old patient with Glanzmann thrombasthenia reported to the department with a chief complaint of a discoloured tooth. (bvsalud.org)
Association of autosomal-recessive-type distal renal tubular acidosis and Glanzmann thrombasthenia as a consequence of runs of homozygosity. (cdc.gov)
Two homozygous missense mutations in ITGB3 gene as a cause of Glanzmann Thrombasthenia in four consanguineous Pakistani pedigrees. (edu.pk)

Clinical manifestations in patients with different underlying gene mutations. (cdc.gov)

Clinical genetics 2021 6 100 (4): 440-446. (cdc.gov)

IX, Fibrinogen Oslo IV and V, all with clinical consequences. (wikipedia.org)

Clinical Findings: On examination, 51 was nonvital, and pulpectomy was the treatment planned. (bvsalud.org)
4. Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings. (nih.gov)
Cui D, Zhang A, Liu A, Hu Q. Clinical findings in a patient with hemophilia A affected by COVID-19. (medscape.com)
A clinical study on the idiopathic respiratory distress syndrome of the newborn: comparison of radiographic and clinical findings. (e-cep.org)

Most difficult to detect on the basis of the history alone is the presence or absence of consanguinity (a feature of recessive disorders requiring 2 doses of the gene for clinical manifestations). (medscape.com)
Clinical manifestations include truncal obesity with thin extremities, thinning of the skin, osteoporosis, and a tendency to bruise easily. (nih.gov)

1. We recommend the use of a structured patient interview or questionnaire before surgery or invasive procedures , which considers clinical and family bleeding history and detailed information on the patient's medication . (wikidoc.org)

The laboratory is widely known as a centre of excellence for providing diagnostic facilities for a wide spectrum of Haematologic disorders using cutting edge technology. (sgrh.com)

14. The utility of next-generation sequencing technologies in diagnosis of Mendelian mitochondrial diseases and reflections on clinical spectrum. (nih.gov)
Pliant Therapeutics is a clinical-stage biopharmaceutical company leading the way in developing new treatments for fibrotic diseases. (golden.com)

Clinical case reports 2022 7 10 (7): e6070. (cdc.gov)

We establish diagnostic and clinical pathways. (sarkomkompetenzzentrum.ch)

Clinical and genetic analysis of distal renal tubular acidosis in three Chinese children. (cdc.gov)

The factor VIII/von Willebrand factor complex: basic and clinical issues. (medscape.com)

Resumen Objetivo: Reportar el caso de una paciente con trombastenia de Glanzmann que recibe manejo con transfusión de plaquetas con factor VII activado y realizar una revisión de la literatura referente al tratamiento y el pronóstico de esta patología durante la gestación. (bvsalud.org)

Anatomy3

Diseases21

Chemicals and Drugs7

Analytical, Diagnostic and Therapeutic Techniques and Equipment18

Psychiatry and Psychology3

Phenomena and Processes15

Information Science4

Named Groups2

Health Care11

Geographicals4

Thrombasthenia is quite rare1

Eduard Glanzmann2

Autosomal recessive1

Platelet aggregation1

Trials3

ITGA2B2

Genetic1

Disorder2

Severe3

ITGB31

Patients4

Registry1

Bleeding2

Manifestation1

Pregnancy1

Childhood2

Disease1

Include1

Report1

Trial1

Thrombasthenia42

Mutations1

20211

Fibrinogen1

Findings4

Manifestations2

Medication1

Disorders1

Diseases2

20221

Diagnostic1

Children1

Complex1

Factor1