• Journal of Interdisciplinary Genomics
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• v.3 no.2
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• pp.41-46
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• 2021

Inherited platelet function disorders (IPFDs) are a disease group of heterogeneous bleeding disorders associated with congenital defects of platelet functions. Normal platelets essential role for primary hemostasis by adhesion, activation, secretion of granules, aggregation, and procoagulant activity of platelets. The accurate diagnosis of IPFDs is challenging due to unavailability of important testing methods, including light transmission aggregometry and flow cytometry, in several medical centers in Korea. Among several IPFDs, Glanzmann thrombasthenia (GT) is a most representative IPFD and is relatively frequently found compare to the other types of rarer IPFDs. GT is an autosomal recessive disorder caused by mutations of ITGA2B or ITGB3. There are quantitative or qualitative defects of the GPIIb/IIIa complex in platelet, which is the binding receptor for fibrinogen, von Willbrand factor, and fibronectin in GT patients. Therefore, patients with GT have normal platelet count and normal platelet morphology, but they have severely decreased platelet aggregation. Thus, GT patients have a very severe hemorrhagic phenotypes that begins at a very early age and persists throughout life. In this article, the general contents about platelet functions and respective IPFDs, the overall contents of GT, and the current status of genetic diagnosis of GT in Korea will be reviewed.

• Clinical and Experimental Pediatrics
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• v.63 no.3
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• pp.79-87
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• 2020

Inherited platelet disorders (IPDs), which manifest as primary hemostasis defects, often underlie abnormal bleeding and a family history of thrombocytopenia, bone marrow failure, hematologic malignancies, undefined mucocutaneous bleeding disorder, or congenital bony defects. Wide heterogeneity in IPD types with regard to the presence or absence of thrombocytopenia, platelet dysfunction, bone marrow failure, and dysmegakaryopoiesis is observed in patients. The individual processes involved in platelet production and hemostasis are genetically controlled; to date, mutations of more than 50 genes involved in various platelet biogenesis steps have been implicated in IPDs. Representative IPDs resulting from defects in specific pathways, such as thrombopoietin/MPL signaling; transcriptional regulation; granule formation, trafficking, and secretion; proplatelet formation; cytoskeleton regulation; and transmembrane glycoprotein signaling are reviewed, and the underlying gene mutations are discussed based on the National Center for Biotechnology Information database and Online Mendelian Inheritance in Man accession number. Further, the status and prevalence of genetically confirmed IPDs in Korea are explored based on searches of the PubMed and KoreaMed databases. IPDs are congenital bleeding disorders that can be dangerous due to unexpected bleeding and require genetic counseling for family members and descendants. Therefore, the pediatrician should be suspicious and aware of IPDs and perform the appropriate tests if the patient has unexpected bleeding. However, all IPDs are extremely rare; thus, the domestic incidences of IPDs are unclear and their diagnosis is difficult. Diagnostic confirmation or differential diagnoses of IPDs are challenging, time-consuming, and expensive, and patients are frequently misdiagnosed. Comprehensive molecular characterization and classification of these disorders should enable accurate and precise diagnosis and facilitate improved patient management.

• YAKHAK HOEJI
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• v.58 no.5
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• pp.322-327
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• 2014

In this study, we investigated whether the mixtures of onion water extract and aloe ethanol extracts have antiplatelet activities. The mixtures inhibited collagen- and thrombin-induced rat platelet aggregation in vitro. Additionally, the oral administration of the mixtures inhibited platelet aggregation induced by collagen ex vivo but not prolonged mouse tail vein bleeding time in vivo. These results suggest that the combination of onion and aloe extracts has a potential to be a preventive agent against platelet-mediated disorders.

• International Journal of Internet, Broadcasting and Communication
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• v.11 no.4
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• pp.1-10
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• 2019

This Dietary cholesterol augments lipid profile and primes production and activation of platelets, leading to development of atherosclerosis which produce several detrimental effects on cardiovascular health. Ethnomedicine and Mediterranean diet are natural sources and cost effective modes against several ailments including cardiovascular diseases while fermented foods have gained interest due to their increased nutrient profile, enhanced bioavailability and efficacy. Garlic has been known to reduce cholesterol and inhibit platelet activation. We examined whether fermented garlic ameliorates effects of hypercholesterolemia and platelet functions in rats. Methodology: Male SD rats were fed with hypercholesterolemia diet and treated with spirulina, fermented and non-fermented preparations of garlic for one month. Platelet aggregation and granule secretion were assessed to evaluate platelet activation. Liver and kidney weights, lipid and enzymatic profile of serum and whole blood analysis was performed. Expressions of SREBP, ACAT-2 and HMG-CoA were assessed using RT-PCR while liver and adipose tissues were analyzed for histological changes. Both fermented and non-fermented garlic inhibited platelet aggregation and granule secretion while fermented garlic showed greater inhibitor tendency. Fermented garlic significantly reduced liver weight and triglycerides concentrations than non-fermented garlic. Similarly, fermented garlic greatly abrogated the detrimental effects of steatosis on liver and adipose tissues. Fermented garlic significantly improved lipid profile and modulated platelet functions, thereby inhibiting atherosclerosis and platelet related cardiovascular disorders.

• Biomedical Science Letters
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• v.25 no.2
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• pp.123-130
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• 2019

Platelet aggregation is essential for hemostatic process in case of blood vessels damages. However, excessive platelet aggregation can cause cardiovascular disorders including atherosclerosis, thrombosis and myocardial infarction. Scopoletin is usually found in the roots of genus Scopolia or Artemisia, and is known to have anticoagulant and anti-malarial effects. This study investigated the effect of scopoletin on human platelet aggregation induced by U46619, an analogue of thromboxane $A_2(TXA_2)$. Scopoletin had anti-platelet effects by down-regulating $TXA_2$ and intracellular $Ca^{2+}$ mobilization ($[Ca^{2+}]_i$), the aggregation-inducing molecules generated in activated platelets. On the other hand, scopoletin increased the levels of cyclic adenosine monophosphate (cAMP) and cyclic guanosine monophosphate (cGMP), which are known to be intracellular $Ca^{2+}$ antagonists. This resulted in inhibition of fibrinogen binding to ${\alpha}IIb/{\beta}_3$ in U46619-induced human platelet aggregation. In addition, scopoletin inhibited the release of adenosine trisphosphate (ATP) in dose-dependent manner. This result means that the aggregation amplification activity through the granule secretion in platelets was suppressed by scopoletin. Therefore, we demonstrated that scopoletin has a potent antiplatelet effect and is highly likely to prevent platelet-derived vascular disease.

• Current Optics and Photonics
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• v.2 no.6
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• pp.623-628
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• 2018

Clotting properties of human blood are important clinical information to monitor for patients with platelet and coagulation disorders. Most devices used to diagnose these disorders utilize blood plasma together with tissue factors and $Ca^{{+}{+}}$ additives. In some instruments, magnetic particles were mixed with blood samples and a rotating magnetic field was applied, resulting in the rotation of magnetic particles, which was probed by impinging light. The working principle seems obvious yet had not been investigated in depth. We modeled the collective behavior of light propagating through magnetic needles, aligned in the direction of the rotating external magnetic field, with scattering light analysis software. Simulation results indicated that the scattering pattern undergoes periodic undulations with respect to the slant angle of the magnetic needles. Also provided is a means of extracting meaningful information from the scattering measurement.

• Genomics & Informatics
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• v.8 no.3
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• pp.122-130
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• 2010

Abnormal hematological values are associated with various disorders including cancer and cardiovascular, metabolic, infectious, and immune diseases. We report the copy number variations (CNVs) in clinically relevant hematological parameters, including hemoglobin level, red and white blood cell counts, platelet counts, and red blood cell (RBC) volume. We describe CNVs in several loci associated with these hematological parameters in 8,842 samples from Korean population-based studies. The data that we evaluated included four RBC parameters, one platelet parameter, and one associated with total white blood cell (WBC) count, exceeding the genome-wide significance. We show that CNVs in hematological parameters are associated with some loci, different from previously associated loci reported in single nucleotide polymorphism (SNP) association studies.

• Journal of Physiology & Pathology in Korean Medicine
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• v.20 no.2
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• pp.460-466
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• 2006

We wondered whether the mechanisms of antiplatelet aggregation of DJS-WE were through multiple pathways. Danggijakyak-san(DJS) consisting of 6 herbes of Paeoniae Radix, Poria Cocos, Angelicae Sinensis Radix, Cnidii Rhizoma, Atractylodis Macrocephalae Rhizoma and Alismatis Rhizoma, is a crude mixture of a commonly used Korean herbal medicine. The water extract (DJS-WE) of DJS has been known to have an anti-platelet aggregation activity. We have reported that DJS-WE inhibited ADP-induced aggregation as well as arachidonic acid-induced aggregation of human platelet. Clinical studies on the cardiovascular effects of DJS-WE have been done in Korea. The DJS has been used as a remedy for gastrointestinal disorders (abdominal pain, dysentery), headache, amenorrhea, and postpartum hemorrhage. It has also been claimed to have a remarkable central stimulant effect, a transient hypertensive effect, and positive inotropic and chronotropic effects. In this paper, we evaluated the possible mechanisms of the antiplatelet activity of DJS-WE using human platelets. On the other hand, the role of DJS-ethanol extract on the inhibition of platelet aggregation and hemolytic effect have not yet been investigated in detail. We also used the method of activated partial thromboplastin times (APTT) for the first time to study the inhibition on platelet aggregation activity of DJS-ethanol extract. The effect of DJS-WE on hemolysis was also investigated. DJS-WE showed a high hemolysis ability on human blood.

• Herbal Formula Science
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• v.21 no.1
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• pp.1-15
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• 2013

Objectives : This article is a study on to which categories of modern diseases blood stasis patterns are assigned and the meaning of blood stasis interpreted with perspectives of Korean Medicine and modern medicine. Methods : We reviewed "Neijing", "Shanghanlun", "Yilingaicuo", "Xuezhenglun" and other books and modern clinical papers related with blood stasis. Results : 1. Blood stasis patterns are related with disorders of hemorrheology, hemodynamics, platelet function, microcirculation, microelements and endothelial damage. 2. From the types of syndrome differentiation, diverse diseases classified in type of qi deficiency with blood stasis and type of blood stasis due to qi stagnation are reported, which reflects qi and blood are closely connected. And many diseases are classified in type of kidney deficiency with blood stasis, which has something in common with chronic diseases can achieve effect from treatment considering blood stasis. 3. Diseases related with kidney involve menopausal disorder, mazoplasia, prostatitis, erectile dysfunction, chronic nephritis, renal calculus, osteoporosis and bursitis. Diseases related with heart involve coronary artery disease, arrhythmia and cerebral thrombosis. Diseases related with spleen involve gastritis, colonitis and digestive organ ulcer. Diseases related with liver involve hepatitis, hyperthyroidism and stroke. Diseases related with lung involve neurodermatitis, bronchitis and paranasal sinusitis. Conclusions : Blood stasis pattern which is one of the areas to draw medicine's attention has broad clinical application.

• Journal of Periodontal and Implant Science
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• v.27 no.3
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• pp.597-602
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• 1997

Glanzmann's thrombasthenia is a Qualitative platelet disorder characterized by a deficiency in the platelet membrane glycoproteins IIb/IIIa. It belongs to a group of hereditary platelet disorders typified by normal platelet numbers and a prolonged bleeding time. The severity of bleeding does not correlate with the severity of the platelet glycoprotein IIb/IIIa a abnormality. The present case report describes the periodontal treatment of a patient with Glanzmann's thrombasthenia. A 30-year-old female with a history of Glanzmann's thrombasthenia was referred for gingival bleeding on tooth brushing and discomforts in #38 area. The periodontal finding revealed a diagnosis of localized slight adult periodontitis. Root planing and extraction of #38 was performed under 12 pack of platelets transfusion and digital compression was done for hemostasis. The gingival bleeding ceased within a day in maxilla and 2 days later in mandible. 42 pack of platelets was administered for 3 days of post-treatment and for iron-deficiency anemia 3 pack of RBCs was transfused 2 days later. 1 week later the inflammation in gingiva disappeared and gingival stippling appeared. The clinical result we got was good and in such a medically compromised patient it is an ability to maintain a proper oral hygiene that is essential both for oral and systemic health.