Results 171 to 180 of about 3,635 (200)

[Hereditary macrothrombocytopenia].

[Rinsho ketsueki] The Japanese journal of clinical hematology, 1998
A 19 year-old male was referred to our department because of macrothrombocytopenia. His platelet count was 73,000/microliter and giant platelets were observed in the peripheral blood smear specimen. Though he had been suffering from severe atopic dermatitis for four years, he seemed to be healthy without bleeding tendency.
K, Kasahara, T, Takahashi, F, Hamamoto, T, Hayashi, M, Adachi, H, Okuda, S, Satoh, Y, Hinoda, K, Imai   +8 more
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Macrothrombocytopenia and Hemolysis Associated with Phytosterolemia

Blood, 2010
Abstract Abstract 2515 Objective: Phytosterolemia is a rare autosomal recessive sterol storage disease, characterized by increased serum concentrations of plant sterols (phytosterols). It is caused by gene mutations of ABCG5 and ABCG8.
Gaifeng Wang, Zhaoyue Wang, Lijuan Cao, Minghua Jiang, Xia Bai, Changgeng Ruan   +5 more
openaire   +1 more source

Response:W318 β1-tubulin and macrothrombocytopenia

Blood, 2009
Response: We would like to thank Dr White for valuable comments on our study that reported the first human β1-tubulin mutation associated with congenital macrothrombocytopenia.[1][1] We have been working on congenital macrothrombocytopenia and analyzed more than 200 cases.
Shinji Kunishima, Hidehiko Saito
openaire   +1 more source

[Anesthesia for a patient with macrothrombocytopenia].

Masui. The Japanese journal of anesthesiology, 1998
A 56-year-old female with macrothrombocytopenia was scheduled for colectomy and hepatectomy. She had not shown significant bleeding tendency. Her preoperative platelet counts were 0.5-1.6 x 10(4) microliters-1 with the use of an automated cell counter.
S, Kasama, M, Hayafuji, T, Takano, K, Songhee, M, Ogihara, M, Nishizawa, F, Ishida, H, Sodeyama   +7 more
openaire   +1 more source

Approach to a Child with Epistaxis and Macrothrombocytopenia

2020
MYH9-related disease (MYH-RD) is a syndrome complex associated with macrothrombocytopenia and Dohle-like leukocyte inclusion bodies with a risk of developing nephropathy, sensorineural hearing loss, and presenile cataracts. MYH9-RD is associated with mild to moderate mucocutaneous bleeding, including epistaxis, easy bruising, and heavy menstrual ...
Gary M. Woods, Riten Kumar
openaire   +1 more source

Congenital macrothrombocytopenia: is it misdiagnosed?

2018
[No abstract available]
Kizilocak, H., Ozkan, D. Torun, Tasdemir, E., Dikme, G., Celkan, T.   +4 more
openaire   +1 more source

[Hereditary macrothrombocytopenia and hearing loss].

Duodecim; laaketieteellinen aikakauskirja, 2015
We describe an autosomal dominant hereditary thrombocytopenia syndrome caused by a defect in the MYH9 gene. Of our three patients, all have thrombocytopenia from birth, and their thrombocytes are large in size. The hemorrhagic tendency caused by thrombocytopenia is often mild.
Samppa J, Ryhänen, Pekka, Anttila
openaire   +1 more source

Mediterranean macrothrombocytopenia revisited

Medical Journal of Australia, 1999
D A, Evans, J, Metz
openaire   +2 more sources

Xanthomas and Macrothrombocytopenia: Sitosterolaemia is the Answer

Reumatología Clínica (English Edition), 2016
Alfonso Ragnar, Torres-Jiménez, Eunice, Solís-Vallejo, Berenice, Sanchez-Jara, Adriana Ivonne, Cespedes-Cruz, Maritza, Zeferino-Cruz   +4 more
openaire   +2 more sources

Differential Diagnosis: Congenital Macrothrombocytopenia

2017
Differential diagnosis of congenital thrombocytopenia is important in the diagnosis of autoimmune thrombocytopenia. Congenital macrothrombocytopenia is a heterogeneous group of rare disorders, characterized by abnormally giant platelets and thrombocytopenia since birth. The most common are MYH9 disorders and heterozygous Bernard-Soulier syndrome.
openaire   +1 more source