WordNet

stated explicitly or in detail; "needed a specific amount"
a medicine that has a mitigating effect on a specific disease; "quinine is a specific for malaria"
(sometimes followed by `to'
being or affecting a disease produced by a particular microorganism or condition; used also of stains or dyes used in making microscope slides; "quinine is highly specific for malaria"; "a specific remedy"; "a specific stain is one having a specific affinity for particular structural elements"
relating to or distinguishing or constituting a taxonomic species; "specific characters"
a tiny grain
tiny bits of protoplasm found in vertebrate blood; essential for blood clotting (同)blood_platelet, thrombocyte

PrepTutorEJDIC

《名詞の前にのみ用いて》『特定の』,一定の・『明確な』,明白な・(そのものに)『特有の』,独特の《+『to』+『名』》・〈C〉(…の)特効薬《+『for』+『名』》・《複数形で》明細,細部(details)
小粒,微粒

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1. 好中球二次顆粒欠損症 neutrophil specific granule deficiency
2. 正常好中球の発生および動態 normal neutrophil development and kinetics
3. 慢性肉芽腫性疾患：病因、臨床症状、および診断 chronic granulomatous disease pathogenesis clinical manifestations and diagnosis
4. 血小板輸血療法の臨床上および検査上の特徴 clinical and laboratory aspects of platelet transfusion therapy
5. 血小板輸血療法に対する不応性 refractoriness to platelet transfusion therapy

English Journal

Platelet-targeted gene therapy with human factor VIII establishes haemostasis in dogs with haemophilia A.

Du LM, Nurden P, Nurden AT, Nichols TC, Bellinger DA, Jensen ES, Haberichter SL, Merricks E, Raymer RA, Fang J, Koukouritaki SB, Jacobi PM, Hawkins TB, Cornetta K, Shi Q, Wilcox DA.Source1] Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin 53226, USA [2] Children's Research Institute, Children's Hospital of Wisconsin, Milwaukee, Wisconsin 53226, USA [3] MACC Fund Research Center, Milwaukee, Wisconsin 53226, USA.
Nature communications.Nat Commun.2013 Nov 19;4:2773. doi: 10.1038/ncomms3773.
It is essential to improve therapies for controlling excessive bleeding in patients with haemorrhagic disorders. As activated blood platelets mediate the primary response to vascular injury, we hypothesize that storage of coagulation Factor VIII within platelets may provide a locally inducible treat
PMID 24253479

Platelets of mice heterozygous for neurobeachin, a candidate gene for autism spectrum disorder, display protein changes related to aberrant protein kinase A activity.

Nuytens K, Tuand K, Di Michele M, Boonen K, Waelkens E, Freson K, Creemers JW.AbstractBACKGROUND: Neurobeachin (NBEA) has been identified as a candidate gene for autism spectrum disorders (ASD) in several unrelated patients with alterations in the NBEA gene. The exact function of NBEA, a multidomain scaffolding protein, is currently unknown. It contains an A-kinase anchoring protein (AKAP) domain which binds the regulatory subunit of protein kinase A (PKA) thereby confining its activity to specific subcellular regions. NBEA has been implicated in post-Golgi membrane trafficking and in regulated secretion. The mechanism of regulated secretion is largely conserved between neurons and platelets, and the morphology of platelet dense granules was found to be abnormal in several ASD patients, including one with NBEA haploinsufficiency. Platelet dense granules are secreted upon vascular injury when platelets are exposed to for instance collagen. Dense granules contain serotonin, ATP and ADP, which are necessary for platelet plug formation and vascular contraction.
Molecular autism.Mol Autism.2013 Nov 4;4(1):43. [Epub ahead of print]
BACKGROUND: Neurobeachin (NBEA) has been identified as a candidate gene for autism spectrum disorders (ASD) in several unrelated patients with alterations in the NBEA gene. The exact function of NBEA, a multidomain scaffolding protein, is currently unknown. It contains an A-kinase anchoring protein
PMID 24188528

Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinism.

Dotta L, Parolini S, Prandini A, Tabellini G, Antolini M, Kingsmore SF, Badolato R.AbstractHypopigmentation disorders that are associated with immunodeficiency feature both partial albinism of hair, skin and eyes together with leukocyte defects. These disorders include Chediak Higashi (CHS), Griscelli (GS), Hermansky-Pudlak (HPS) and MAPBP-interacting protein deficiency syndromes. These are heterogeneous autosomal recessive conditions in which the causal genes encode proteins with specific roles in the biogenesis, function and trafficking of secretory lysosomes. In certain specialized cells, these organelles serve as a storage compartment. Impaired secretion of specific effector proteins from that intracellular compartment affects biological activities. In particular, these intracellular granules are essential constituents of melanocytes, platelets, granulocytes, cytotoxic T lymphocytes (CTLs) and natural killer (NK) cells. Thus, abnormalities affect pigmentation, primary hemostasis, blood cell counts and lymphocyte cytotoxic activity against microbial pathogens. Among eight genetically distinct types of HPS, only type 2 is characterized by immunodeficiency. Recently, a new subtype, HPS9, was defined in patients presenting with immunodeficiency and oculocutaneous albinism, associated with mutations in the pallidin-encoding gene, PLDN.Hypopigmentation together with recurrent childhood bacterial or viral infections suggests syndromic albinism. T and NK cell cytotoxicity are generally impaired in patients with these disorders. Specific clinical and biochemical phenotypes can allow differential diagnoses among these disorders before molecular testing. Ocular symptoms, including nystagmus, that are usually evident at birth, are common in patients with HPS2 or CHS. Albinism with short stature is unique to MAPBP-interacting protein (MAPBPIP) deficiency, while hemophagocytic lymphohistiocytosis (HLH) mainly suggests a diagnosis of CHS or GS type 2 (GS2). Neurological disease is a long-term complication of CHS, but is uncommon in other syndromic albinism. Chronic neutropenia is a feature of HPS2 and MAPBPIP-deficiency syndrome, whereas it is usually transient in CHS and GS2. In every patient, an accurate diagnosis is required for prompt and appropriate treatment, particularly in patients who develop HLH or in whom bone marrow transplant is required. This review describes the molecular and pathogenetic mechanisms of these diseases, focusing on clinical and biochemical aspects that allow early differential diagnosis.
Orphanet journal of rare diseases.Orphanet J Rare Dis.2013 Oct 17;8(1):168. [Epub ahead of print]
Hypopigmentation disorders that are associated with immunodeficiency feature both partial albinism of hair, skin and eyes together with leukocyte defects. These disorders include Chediak Higashi (CHS), Griscelli (GS), Hermansky-Pudlak (HPS) and MAPBP-interacting protein deficiency syndromes. These a
PMID 24134793

Japanese Journal

The regulation of platelet-dense granules by Rab27a in the ashen mouse, a model of Hermansky-Pudlak and Griscelli syndromes, is granule-specific and dependent on genetic background