関: storage pool deficiency

WordNet

join or form a pool of people
the combined stakes of the betters (同)kitty
any communal combination of funds; "everyone contributed to the pool"
any of various games played on a pool table having 6 pockets (同)pocket billiards
an excavation that is (usually) filled with water
a small body of standing water (rainwater) or other liquid; "there were puddles of muddy water in the road after the rain"; "the body lay in a pool of blood" (同)puddle
something resembling a pool of liquid; "he stood in a pool of light"; "his chair sat in a puddle of books and magazines" (同)puddle
an organization of people or resources that can be shared; "a car pool"; "a secretarial pool"; "when he was first hired he was assigned to the pool"
combine into a common fund; "We pooled resources"
(computer science) the process of storing information in a computer memory or on a magnetic tape or disk
the act of storing something
the commercial enterprise of storing goods and materials
tiny bits of protoplasm found in vertebrate blood; essential for blood clotting (同)blood_platelet, thrombocyte

PrepTutorEJDIC

(特に,自然にできた)『水たまり』 / (水以外の液体の)たまり《+『of』+『名』》 / 『水泳プール』(swimming pool)
〈U〉賭(か)け玉突き(6個の穴の台でする玉突きの一種) / 〈C〉(ある種のゲームの)総賭け金 / 企業連合,カルテル / 〈C〉(…の)合同資金,プール;共同管理(出資)『+of』+『名』》 / 〈C〉共同利用の施設,(それを利用して集まる人などの)たまり / 《the pools》《英》サッカー懸賞 / …‘を'いっしょにする;共同出資する
〈U〉〈C〉(…の)(量・額などの)不足,欠乏《+『of』(『in』)+『名』》 / 〈C〉不足分,不足量,不足額 / 〈C〉(精神・肉体などの)欠陥
(倉庫などに)貯蔵すること,保管 / 貯蔵所,倉庫 / 保管料

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/07/23 10:07:50」(JST)

wiki en

Platelet storage pool deficiency is a type of coagulopathy characterized by defects in the granules in platelets, particularly a lack of granular non-metabolic ADP.^[1] Patients with ADP deficient "Storage Pool Disease" present a prolonged bleeding time due to impaired aggregation response to fibrillar collagen.

It may involve the alpha granules or the dense granules.^[2]

Conditions

Examples include:

Platelet alpha-granules
- Gray platelet syndrome^[3]
- Quebec platelet disorder

Dense granules
- δ-Storage pool deficiency^[4]
- Hermansky-Pudlak syndrome^[5]
- Chediak-Higashi syndrome^[6]

References

^ Alan D. Michelson (2007). Platelets. Burlington, MA: Academic Press/Elsevier. p. 313. ISBN 0-12-369367-5.
^ William B. Coleman; Gregory J. Tsongalis (2009). Molecular pathology: the molecular basis of human disease. Academic Press. pp. 258–. ISBN 978-0-12-374419-7. Retrieved 2 November 2010.
^ Hayward CP, Weiss HJ, Lages B et al. (June 2001). "The storage defects in grey platelet syndrome and alphadelta-storage pool deficiency affect alpha-granule factor V and multimerin storage without altering their proteolytic processing". Br. J. Haematol. 113 (4): 871–7. doi:10.1046/j.1365-2141.2001.02833.x. PMID 11442477.
^ Kaushansky K, Lichtman M, Beutler E, Kipps T, Prchal J, Seligsohn U. (2010; edition 8: pages 1946–1948) Williams Hematology. McGraw-Hill. ISBN 978-0-07-162151-9
^ Huizing M, Anikster Y, Fitzpatrick DL et al. (November 2001). "Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency". Am. J. Hum. Genet. 69 (5): 1022–32. doi:10.1086/324168. PMC 1274349. PMID 11590544.
^ Novak EK, McGarry MP, Swank RT (November 1985). "Correction of symptoms of platelet storage pool deficiency in animal models for Chediak-Higashi syndrome and Hermansky-Pudlak syndrome". Blood 66 (5): 1196–201. PMID 3902123.

This article about a disease, disorder, or medical condition is a stub. You can help Wikipedia by expanding it.

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

1. 先天性および後天性血小板機能障害 congenital and acquired disorders of platelet function
2. 血小板機能検査 platelet function testing
3. 出血症状を有する小児に対するアプローチ approach to the child with bleeding symptoms
4. 出血性素因を有する成人患者へのアプローチ approach to the adult patient with a bleeding diathesis
5. Recognition of immunodeficiency in the newborn period

English Journal

Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome.

Ammann S1, Schulz A2, Krägeloh-Mann I3, Dieckmann NM4, Niethammer K5, Fuchs S1, Eckl KM6, Plank R7, Werner R7, Altmüller J6, Thiele H6, Nürnberg P8, Bank J1, Srauss A2, von Bernuth H9, Zur Stadt U10, Grieve S4, Griffiths GM4, Lehmberg K11, Hennies HC6, Ehl S12.
Blood.Blood.2016 Jan 7. pii: blood-2015-09-671636. [Epub ahead of print]
Genetic disorders affecting biogenesis and transport of lysosome-related organelles are heterogenous diseases frequently associated with albinism. We studied a patient with albinism, neutropenia and immunodeficiency, neurodevelopmental delay, generalized seizures and impaired hearing, but no mutatio
PMID 26744459

Reference Range of Platelet Delta Granules in the Pediatric Age Group: An Ultrastructural Study of Platelet Whole Mount Preparations from Healthy Volunteers.

Sorokin V1, Alkhoury R2, Al-Rawabedh S3, Houston RH4, Thornton D5, Kerlin B6, O'Brien S7, Baker PB8, Boesel C9, Uddin M10, Yin H11, Kahwash SB12.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.Pediatr Dev Pathol.2015 Dec 15. [Epub ahead of print]
OBJECTIVE: We aimed to determine delta granule normal ranges for children and validate methodology for the appropriate diagnosis of delta granule deficiency (storage pool disease) by electron microscopy (EM), utilizing the whole mount technique.METHODS: Specimens from 40 healthy volunteers (2 months
PMID 26670096

Chitinase 3-like-1 and its receptors in Hermansky-Pudlak syndrome-associated lung disease.

Zhou Y, He CH, Herzog EL, Peng X, Lee CM, Nguyen TH, Gulati M, Gochuico BR, Gahl WA, Slade ML, Lee CG, Elias JA.
The Journal of clinical investigation.J Clin Invest.2015 Aug 3;125(8):3178-92. doi: 10.1172/JCI79792. Epub 2015 Jun 29.
Hermansky-Pudlak syndrome (HPS) comprises a group of inherited disorders caused by mutations that alter the function of lysosome-related organelles. Pulmonary fibrosis is the major cause of morbidity and mortality in patients with subtypes HPS-1 and HPS-4, which both result from defects in biogenesi
PMID 26121745

Japanese Journal

Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency

HUIZING M.
Am J Hum Genet 69, 1022-1032, 2001
NAID 30017635092

δ-ストレージプール病黒毛和種牛におけるコラーゲンにより惹起された血小板凝集に伴う血小板の形態的変化

冨宿誠吾,出口栄三郎,阿久沢正夫
The journal of veterinary medical science 61(8), 971-974, 1999-08-25
… Electron microscopic observation was performed on platelets activated by collagen stimulation in Japanese Black cattle with δ-storage pool deficiency (δ-SPD) to identify their morphological and functional abnormalities compared from normal bovine platelets. …
NAID 110003920212