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welcome to the ice cage Gorgon our theory my name is Chris Ward from role Northshore Sydney and I’m a member of the ISDA Education Committee I’ll be moderating today’s webinar today we’re going to discuss thrombocytopenia with doctors marco cattaneo from the university of milan and shinji Konaseema from nagoya medical center this webinars been supported by a grant from instrumentation laboratory before we start I’d like to take a moment to review some of the technical features of our system and let you know how you can participate today’s session we’d like these webinars to be interactive we encourage you to submit questions to our presenters using the questions tab on the left hand side please feel free to submit the questions at any time one of these and respond quickly if we see something that needs clarification we’re not asking your questions please specify which speakers like to address the question to also want to point out for those who’d like to take notes that there’s a tab titled notes on the right hand side of the screen where you can enter text directly and these notes will be emailed to you automatically at the end of the presentation if you’re interested in a PDF copy of the PowerPoint you can click on the resources tab on the left-hand side to download if you have any technical problems during the course of this webinar please click on request support button lower left to the flyer and we have an expert there ready to help with which whatever problems you might have so let’s get started first up we have dr. Marco Catania will discuss inherited platelet disorders Thank You Makka okay thank you crease good day to everybody so today my presentation will be with the diagnosis of inherited thrombocytopenia an impedance function disorders and if I had time I will also say something about their treatment so and normalities of better neural function are associated to be debride manifestations which characteristic may be by like titania spell parameters are bleeding excessive for somatic of post-surgical being of early onset but also other types of bleeding media although they are user julia i start with the interested service sector Pina first of all when should we diagnose thrombocytopenia in general that is to say what is the normal range for that account st. is because in in the last couple of years a couple of very interesting studies in large populations in Italy indicated that the Becker County Chris is physiologically with with age there are also some a slight differences between the sexes very briefly you can see on the right part of this graph that for people who are older than were 64 years of age better account as low as about 100,000 per cubic millimeter can be considered normal so this should occur be taken into account when we diagnose on the site opinion because you know the I prior and inherited form a possible site opinion and first of all we had to distinguish between them how can we do it mmm of course if the patient has a previously to account a normal account we can safely conclude that the patient has an acquired a form of rhombus late opinion but many patients incidentally diagnose in a systematic and never had a.com before the family history is from Virginia may be useful but one negative it does not necessarily rule out the presence of inherited sample site opinion because they are recessive trait de novo mutations and low penetrance a measurement of immediately ball you may mean that the diameters as shown by Norris and co-workers recently could be helpful in distinguishing between acquired immune from beside convenience and form Islamic garrotted the markers on beside Athena’s such as memory h9 related disorders and Bernard Soulier syndrome but of course there is some overlap between the data and this approach could be assumed only to diagnose this formal source of magnetron Gazette opinion but they are not useful for all the other forms of interest from beside opinion the first attend to classify there in the thrombocytopenia and to design in a diagnostic algorithm was done in 2003 by the italian a group police to develop estimate theta study group under the lead of a Carlo bonini is the algorithmic complex but not too difficult to to follow which has

recently been updated several times that the most updated version of this algorithm I was given to me by cantilever a group of local about doing it and it is interest in innovate I don’t know actually so let’s the first step is to evaluate whether or not other defects in addition to thrombocytopenia are present by the patient if this is the case and the patient has a syndromic form or thrombocytopenia let’s focus on on these forms more more on more in detail and you can see there’s five of these forms and never been a lighted in red these are forms of matters on profit opinion and they will be dealt with by the Turkish team and later I will focus on the other three forms first of all the wiskott-aldrich syndrome which is characterized by was immune dysregulation susceptibility to infection and examine the wizard which is a thrombus I titania which are associated with the larger illness in a congenital your owner synostosis and the task in term which is catered by the latter radial a pleasure but also other skeletal defect and other dessert another organization christened the intestinal system now it the pictures of these three forms of syndromic models Athena Alice told a whisker solace in syndrome has a neck inheritance and descriptors by small platelets from Caserta Pina was absent rowdy as a complex form of inheritance it looks like an autosomal recessive but there’s some indication that this situation may be more complex is characterized by enormous size plateless interestingly the Pater account and associatively any complication improve with age he contrasted owners in a study with negative City thrombocytopenia said Otto domina dominant inheritance inscribed by normal-sized plateless there is no improvement with the age and actually this might progress to bone marrow marrow failure now if the patient do not have associated defect then they have no syndromic forms over from the site opinion at this point we have to distinguish between thrombocytopenia be small platelets a normal sized platelets and large platelets focusing on small and normal-sized platelets first of all we should be consider the congenital America’s cities from beset opinion which is characterized by professionals most small and normal-sized platelet it is an autosomal recessive inheritance it has a severe severe thrombocytopenia and progression to bone marrow aphasia and death this is associated with mutation in the gene and clear which is encoding for the rest I prefer from was positing in about 60% of patients and treatment is based on hematopoietic stem cell transplantation if cancer is ruled out then we consider a patient patient with more platelets from beau-site opinion and in particular here we focus attention on explained from website opinion which is to be considering my dry interest this syndrome it as the title says the explint addresses inheritance it is a somber setup in every small platelet area with water to loosen ami doesn’t have an immunodeficiency Cleo the other dimension before it is characterized by this transportation in the coding protein for the in the in the code engine for grass protein the other farmers inherited from basta that tinia with a small platelets this turtle combo set of interrelated to cytochrome C gene mutation which is had a auto terminal autosomal dominant inheritance characterized by small thickness short diameters shown recently very noisy and co-workers in blood 2014 is a gain of function mutation in cytochrome C which is doing his apoptosis and is regulated mega cardio cytokinesis if the traitorous have normal sized we considered the anchoring repeat domain 26 related Rhambo cytokine appeal is known referred to as thrombocytopenia 2

which is a autosomal dominant inheritance moderate Ramos I took in a normal-sized recluse a mutation in the anchor 26 is make Akari hace poco years and then in association with a methodological agencies mostly immuno may Lord leukemias another form is this immediate a disorder with propensities to my load malignancy which has a notice normal dominant inheritance moderator thrombocytopenia with normal-sized platelets effect of the electronic pathway which means that the pressure have also a mild affecting function and predisposition again to marry this plastic syndrome agenda and acute myeloid leukemia in about 45 40 percent of patients at the mean age and it over 33 years so quite young it is associated with the a mutation in ranks one which is encoding for a subunit of a core binding factor transcription the last one is a recently published form of a thermoset opinion associated with mutation in DT v6 it was a autosomal dominant inheritance miles from Buster to Keaney with normal-sized platelets and susceptibility to Emmet illogic Nia’s last that we have the chance the case of patients with the thrombocytopenia with large Blake lesson and as you can see there are many more touch of Mike Rosenberg opinion which will be dealt with by the and okunoshima after my presentation let’s a move to hear the player function disorders first of all I would like to summarize how platelets what are the function of theta they need to attack thrombus formation later later adhere to a tv– proteins in in disturb in the theme of damaged vessel wall through the interaction of receptors for a group or for an audit reporting which are glycoproteins already expression definite at the surface this will activate later that we feel secrete the content over the agree honest and including some important plated agonist and will also produce some agonist such as from boxing lee to if a green soluble atoms will interact with their specific receptor on the present membrane which we’ll call the platelets will be further activity and this will lead to the exposure of a binding site for our for a difficulties on the reporting tube is really complex leading to platelet aggregation in addition platelets will catalyze the formation of thrombin Aveda coagulation and raman will occur called the family v information but also further stimulate lately because it is a very potent agonist of the dysfunction how can we classify the several forms of congenital disorders better function in in the year 2003 I proposed a a classification which is based on common normality of a common structure indicated in the Patriot let me try to be more clear now the first group of patients over the function disorders include abnormalities or receptors or other proteins that is to say in general glycoproteins which is important for mostly television to the some experience and for players to play television that is to say better at fabrication and this group of disorders the naturally syndrome and against tantrum athenaeus resistance include the second group is a debt of function disorder characterized by abnormalities over set was for a soluble agonist an example is the defect of the petrol sector for a digit adenosine diphosphate which is an important agonist of request function and the third group vary by miscellaneous disorders of signal transduction the fourth group includes normalities of the plethora granules Alpha Delta or Alpha Delta and among them I will mention the orthogonal deficiency also known as claimed great latest interim and the data Colonel decisions the study put the physicians a storage pool deficiency which is in its

syndromic form could be is is called sir mosquito lock syndrome the last one is a include disorder of little phospholipids which are associated with the normal coagulation on the total membrane the most and the most well known form is the Scots in the scene which is characterized by bleeding manifestation which are more typical or abnormalities of coagulation dante’s normality so primary hemostasis and the last group of in this classification lamps together miscellaneous better function disorders and we like to focus on on the first one listed here which are usually referred to as primary secretion defect which is probably the most common inherited little function disorder which is characterized by abnormal later secretion in the presence of normal platelet granules and normal arachidonic acid pathway how can we diagnose these and loaders first of all our bleeding assessment tools useful this toy shows you the result of a recently published study in which the performance of the RTS leading our assessment tool was tested then any patient with suspected as a function and defect as you can see and the the is depleting assessment tools is able to distinguish later defects a patient with better defect from normal subject but it is unable to distinguish between patient with a platelet function defect and other patient with the different types of a billion diet easily due to other non terminal abnormalities or hemostasis so the breathing assessment tool is not useful to help in suspecting methyl function disorder what about the usefulness of a global test of hemostasis for instance the old lady time you know that building time has several pitfalls just great variability results operator dependency it is our reliable in team there is it very low sensitivity and it’s not useful to get in in the diagnostic workup they supposed to have a patient with them if there is a multiple Tanya’s bleeding we per found a bleeding time if it is too long we have to look for better function disorders are also for for Milligan disease which is the other very common abnormality of primary hemostasis if it is normal if the the the taste is very insensitive we still have to look for screaming for envelope and identity function disorder and would it be much easier and simpler and less expensive to just you know scream patient or prevail ability sometimes better than CDs or wizard without performing the bleeding what about another option that gives a 100 which as you know is a sort of indie chore bleeding time it measure the time that it is needed to hold blood to occlude a very small capillary sized aperture in in a cartridge by forming a platelet plug the car two cartridges are used one is covered with collagen and epinephrine the other one is covered with collagen and ADT we tested the performance of the the TC 100 cartridges happiness in college and ATT collagen and the bleeding time in patients with a suspected bleeding diathesis as you can see just focus on play the function disorder from Willebrand disease for the moment at the TV one another always proved more sensitive than the bleeding time the red red symbols in both the function disorder and from Milligan disease but what was what was very interesting in my opinion it was in a in a pure function disorders only the Connecticut College and cottages both prolonged whereas both epinephrine cartridge in in ADT college and classes were prolonging from Willebrand disease which led us to hypothesize that maybe this could be useful in another world in a diagnosis of petal function disorders and in general family test equation defect if we use the same patient as we mentioned before the ADT cartridge if it is prolonged chances are high that patient patient has we liberal disease then we should

probably tell screen education for four billion disease if it is not much chances are very high that the patient doesn’t know there’s a help of Willebrand disease but has a better function disorder so we would be allowed to start screening education with training tests for better functional disorders but this course is just a suggestion which needs to be validated from not recommended to you to follow then there are many places function tests that are useful to diagnose patients with a better function disorder business at least incomplete list probably I would like to mention that the test a very old test that is ill considered the most under for this type of a diagnosis of this type of patients is light emission agronomically in clayton rich blood you know that it measure the increase in light transmission through finally dispersive literacy intelligence pension which is brought about by the formation of a large platelets aggregate aggregate which follow the emulation of latest in vitro with dated agonist you can see here that with the ATP for instance under this experimental condition you may have irreversible platelet aggregation by phallic aggregation terrible aggregation which are useful as we will see betrayal later in raising diagnostic hypotheses for the type of better function disorders in order to get a reliable result one has to follow guidelines it was suggested by a survey which was promoted by the beta vigilance a committee of SST SST of isth several years ago and this guidelines were later published in j-th and i recommend whoever wants to study better functioning patient with liver function disorder to follow them this I shows you that the combined analysis of title aggregation tracing induced by ADT college and and or nikasha for instance in the facing induced by the agglutinating agents are associated might help in raising diagnostic hypotheses these are the normal and tracings gland aromas tinia is characterized by lack of aggregation to any agonist but why normal agglutination induced by Orestes eating the opposite is true for been massively syndrome normal aggregation but lack of a glutton ation will risk the city in the same is true for from Willebrand disease as far as a story put deficiency or in general the secretion the factories you can see that the delegation used by ADT is usually irreversible there is a severe deficiency of presence junction of data aggregation just by collagen whereas arachidonic acid induces really aggregation usually normal and associating induce platens agglutination is no aspirin and like the fact are very similar to as Storyful deficiency with the exception that arachidonic acid induce plated aggregation is severely impaired now this is the ideal situation but according our exception for instance in this pattern of data aggregation can not always be found in patient with a storage pool deficiency this is an example these are aggregation tracing of normal subject these are equivalent racing news by Aditi in the SPD patient you can see that player aggregation is absolutely normal in the patient it is only by measuring in parallel the secretion of ATT by using alumina radiometer test we could distinguish did affect this patient from normal another way to measure platelet aggregation is they’re using impedance latest egregore motives such as for example the multiplayer device which measure they increase in in impedance between two electrodes with the pair immersed in in the whole blood and this this system allows you to study data aggregation whole blood and the impedance will increase when players are stimulated because they will accumulate on the electrode the very in the intervals now this is a what you find in enormous objects you always get and double replicates of the derivation which is useful if you study a patient with the Pete white well defector you can see that there is a dramatic abnormality of petrifaction that platelet aggregation is inhibited though not completely abolished how does it compare with segregation the same patient study with light remission our

gamma tree this is the typical pattern of platelet aggregation induced by ADT in a Tito as well effect flight and rapidly reversible aggregation even when I use a very high concentration of a DT this concentration was 20 micro molar so very very high so compare the two results both an instrument tell you that the extent of data aggregation is severely impaired so they are they give the same information however my permission aggregate II gives you additional information for instance tells you that this a platelet and a low normal shape change upon stimulation with ADP it tells you that the other key to the two-wire set for AD tp2i one is normal because it is it drives better shape change response the other information which the information are going to gives you but is lacking in the multi played an instrument is that and the rhythm is they already mentioned rapid the aggregation of lately which as I said before is the epitome of this better function disorder in my opinion later admission of regulations will be considered the post time before studying platelet function in creating patient with suspected mental function disorders another pitfall of a multi-plate is that at variance with the light emission agronomy results are not dependent on the plate electron within the normal range 115 500 as shown in this light data aggregation induced by measure by the multi-plate is affected by total account in the same physiological ranges as you can see here so since multiple gives you only information about the extent of operator aggregation and since it is affected by slight variation in in internal cloud the result that you can get should be positive very carefully also for diagnosis interpreter function disorders we need guidelines as shown again by this group of investigators of aspartame patel function disorders which in accordance of what we did before for aggregation did first of all what assuredly which indeed worldwide third a survey which indeed told us that the discrepancy ex-monk discontent about the scene in the way they function disorders are diagnosed and pointed out the need of standardizing these diagnostic approach which was recently published in journal trombonist and hemostasis again under the auspices of i th SSC technology group now it would be too time-consuming to go in 32 they recommended algorithm and so i will try to simplify it telling you what is the minimal approach that should be used in patient will suspected that the function is or which is also the approach that we use in our laboratory then we recommend several years ago it is a two-step diagnostic workup in the first that we should use very simple laboratory tests which usually is a diagnostic hypothesis my recommendation is that these simple laboratory tests albeit simple should be from only in dedicated and specialized laboratories because the function tests are affected by several analytical variables they cannot be met in in the normal routine laboratories these are the three latest tests that we use in our first attack diagnostic screening first of all light microscopy overall blood smear and by evil wicked a plethora size and morphology in harmony or morality of other cell we can already have some diagnostic suspicion for example of a creator syndrome which are attracted by large platelets of the appearance than the title said the second test is a Lumiere chronometry situated Quixote which is a nation before explore both little aggregation and secretion simultaneously we use a

number of aggregating agent ad e collagen thromboxane receptor myth some days sorry Box need to analog adrenaline or associating a colonic acid and also we test later aggregation and without any addition of any ability to measure spontaneous better application this is done using different concentration of this agonist we also measure clock protraction which is a very simple test unexpensive may give you some information but most importantly can allow you to save a serum which could be useful for a measuring from boxing b2 to confirm a morality over there agree honest and as we also to rule out the possibility the patient to chemistry and telemetry drugs before under to the function test having read diagnostic a hypothesis based on simple laboratory tests we had to move to step two which is a lot of confirmatory specific tests we should confirm the diagnostic reported which was rated based on the result of a step 1 these included from boxing be to measurement nucleotide measurement glycoproteins in by flow cytometry cells on depending on the diagnostic hypothesis that array is based on the parent suspect you think I have a few minutes to also summarize briefly as treatment of this energy disorders Chris Marker I think we might come back to that and the question ok perfect time I think that’s okay so you’d agree that I will have you stopped here and thank you for your attention dr. Tanya as a reminder will address questions after both talks are concluded will now continue with dr. shinji-kun Ashima will discuss the genetic basis of congenital macro from the third opinion thank you doctor world or interaction good evening from Japan I am very happy to be here but very nervous to participate in the earliest th webinar after dr. Cottonelle talk I will be talking about genetic basis and diagnosis of congenital markers from salvinia in the recent 10 to 15 years several novel genetic code for congenital microcephaly Nia have been identified this improved our understanding of the molecular mechanisms of greater production in health and disease first I will briefly summarize the classification then I will mention the genetic basis molecular mechanisms and diagnosis all for common forms conjecture macro so Mosul Kenya is a heterogeneous group of we are so that characterized by abnormal giant credits and some sylvania since birth these disorders have been considered the real unlimited knowledge has been available presenter often is diagnosed as immune from South Pena and may be encountered in routine schemata logical examination now definite diagnosis is possible in about half of the cases shamshir conjectures from South Pena’s classified according to where the site until recently genetic defect for conjunctive macro from Sardinia was only known for building super syndrome 15 years ago the gene for main Higley anomaly was identified also in March 9 and then soprano their genetic causes for other forms have been identified in many phones defects are associated with play the cytoskeleton who are adhesion molecules on their receptors indicating that cytoskeleton and it’s signaling pathway are important for normal traded morphology during the recent 11 years we have analyzed more than 217 suspected cases create conjunctive macros from inside Pina diagnosis perceived in 60 percent of patients with differential diagnostic

analysis the most common are a manage the emotional disorders unborn assumer syndrome after t recently identified GP tv3 a associated markers from the Sylvania Bronx third and katie-ann one associated macros on salvinia Bronk to divorce are going to summarize these for common phones the Haryana body is a prototype committee autosomal-dominant macros homicide pina which looks at the inclusion bodies but was the first described a century ago this disorder is characterized by giant credit to neutral opinion among exiled inclusion bodies the a Trojan was unclear for a long time but in 1999 our genome-wide linkage analysis master responsible gene to be the long arm of chromosome 22 in 2004 seconded approach identified mutations in advanced 9 that encodes non-muscle mala she had be chained to a mutation in an marginally were also found in sebastian technique are syndromes that have been considered are also distinct disorders another disease entity in Warrenton are disorders or emotional related the disease is now proposed this concept encompasses the avoid a variety of clinical phenotypes from isolated macro from cell opinion to severe conditions complicated part nephritis deafness undercut rocks well agree anomaly is normal a simple traded disorder but the systemic disease in addition there the genotype to phenotype the coloration in relation to knowledge methodological complications genetic diagnosis is mandatory although brainy insulting could police that a lot of the hallmark of a marginal disorder please look under chill lift up our images there are some times of pain who are even invisible conventionally estranged smears simple enough relates staining of new trophy boxing today using commercially available untied marching to the antibody had revolutionized the diagnosis in non of in normal neutrophils at the below left merchantability diffusely distributed without distinct structure in sharp contrast abnormal cellular localization of mouse in chile is present in every neutral view from patients furthermore the localization picanha correlates with the site of a marginal mutation they might not hate the domain mutations of till lift up our images are associated with several small margin to aggregates and tail domain mutations and till right images are associated with one or two large aggregates mutations in the middle part of broad at the second off on the right show an intermediate value in solids and number of marchantia aggregates also McCallum Sylvania unlocks of inclusion bodies are constantly features of all patients phenotypic expression called on hematological communications it variable Dara genotype-phenotype correlation in relation to non hematological complications they reported that the marginal domain mutations are shown in our red line are at risk for the group ting Anna Frye disc all patients will develop nephritis before 40 years of age in contrast a marginal rotor tail domain mutations and shown in brown

and orange lines alcohol discs at least nephropathy imagine I hate the domain mutations are associated with the highest risk and the world to tell domain mutations are associated with lower risk for hearing impairment thus again genetic diagnosis is very important for prognosis of non hematological complications within the bone marrow now okay besides migrate from the hostile plastic niche to the Pascrell niche are they mature well they extend appropriate unreleased credit into the bloodstream now aside to migration and the timing of operated formation especially temporary regulated by transcription signaling and adhesion molecules and cytokines and chemokines a martinet disorders loss of the my march into a function appears to promote the 12 related formation and may trigger precocious preferred to formation and premature plated lady’s secret branching on tips are forced decreased and the father is enlarged impatient and no Kimmel’s model from the stress syndrome is an autosomal recessive believing disorder characterized by mark Rhodes on Sylvania to along the plate in time and the absent with citizen in this plated aggregation this drum is called by the deficiency of play dirty pillow mean I do too Metallica’s mutation in GP on the Alpha the be bumpy beta was 89 Prasad on three a useful for the diagnosis here is a typical example of of cytometry in the family with a nursery syndrome Metallica’s – listen John showed identity even the expression as shown here ed instructor Jacques carriers the expressions are decreased as shown in blue although for cytometry of radhaji even d.join differentiate mythologies on it was a conspiracy syndrome without a pro cytometer in the forensic analysis on peripheral both snails chanted notes from the toy gospel nursery syndrome as you can see green staining of JP and E is absent in the patient because Bonasera syndrome is an autosomal recessive clarify determination within a family provide important information on the mutational status the rent Obama cycles patient often have large platelets defective linkage between G in Grampian cytoskeleton is a proposal molecular basis of such giant credits in Poland syndrome forever defective appropriate formation is also the proposed mechanism whether g8 k p3 resolves are subsided fibrinogen receptor Italy unknown the Mozilla cause mutations in the GP 3 be illogical assuaging result in reading disorder grants months from asthenia it is also known the wizard expressions of the wave outfit Osiris carriers have normal daily comic and morphology recently through sagas activating mutations in the main brand post proximal region of typically be and GPS really are found to be associated with congenital microfilm salvinia this mutation disrupts electrostatic interaction between site trans materials of T P 2 P and D ETA and without in constituted acting receptor for psychometry in useful for screening typically 3d Associated macro from salvinia impatience repeat 2 P 3 expression is decreased as shown in red and GD 1 B is increased as shown in blue furthermore there is a spontaneous burning upon activation specific antigen B 2 B 3 antibody Pakwan

to rest impressions of platelets actually concomitant the flow cytometry for GP 1 B and G tube is really John differentiate of Metallica’s and rose I was born a Zulu syndrome Anjali – is really associated Marco’s domicile Tanya it has me reported that they are carousel bar into fibrinogen possibly married by park singer from most procreated formation FARC is also known to inhibit Rojo on the promoter to operated formation recent next-generation sequencing approaches have led to the identification of new genes for congenital Marcos from Sardinia in which no relevant mutations in the previously reported gene HUD team from the perform home exome sequencing in dominant form of microbes on Sylvania and identified a CT and one of the new causative gene a Shatila encodes for a fact in one among the four known as a forms of of Akutan e alpha continue one is mainly expressed in credit under mail carrier sites the agree opportunities exist as anti parallel timers with a in terminal oxygen binding domain on a function to under actin filament on the party participated in the cytoskeletal organization mutations are exclusively found within the functional domains a shaken or mutations account for about 6% of congenital macro songs like pina in japan and eaten a sheet ER gate agent calls with this organization called action based of cytoskeleton as shown in red and abnormal morphology as shown in green in transfected sails this slide showed we presented it operative extending male calcite transduced visitation t + 1 the number for the treasure chips is decreased and the side in variable in the mutant to transduce of sales this organizer activates fault of skeleton effects propelled formation one leads to the production of large antique we spray liquid under such high doses unfortunately at the present specific diagnostic test for a sheet tianhua associated macro from busan pena are available so last slide shows up turn and run group glycoproteins and tray the cytoskeletal neck networks that are mutated in congenital micro from the side piñas defect in the Plata cytoskeleton and it’s signaling pathway lead to defects of profile to formation and maturation and without in the production of larger threads I hope my presentation will be useful for your understanding on diagnosis of congenital course on my opinion thank you for your passion Thank You Donna Cena will now begin the question answer session we did start a little light so we can take a few minutes for this please stand question marker could you start out please maybe a brief comment about treatment particularly in settings where you want to avoid like this transfusion for patients with these disorders okay so briefly we have four options for treatment of a reflective bleeding in the business function besides confusion or communist practice 7 a tentative energetic agent such as an exam ik acid and them there is no person first of all for mild moderate believe me those local measures such as compression can be efficacious so we do not need any any kind of drug treatment whether suffusion as should be reserved for patients with serious bleeding unresponsive to other therapies and patient with severe petra function besides music associated with the deficiency of remembering Latakia couple teens impatient with the fishing Testament language wrote a today’s weather in clearest offer either immunization and in last night Thomas Kennedy’s happens more often than in the

naturally a syndrome in patients and this type of patient we could reserve the use of a recombinant factor 8 which satisfies recommend five to seven activity which mission took to be education in some case reports and also in in a meta knowledge intelligence are useful in agility Authority for preventing and controlling bleeding and with the instruction or nulls on a surgery or oral surgery and a short courses may be useful for recurrent epistasis and in women with a mineral age’ because we they must not be used in patient with the hematuria because they can cause the formation of clause in the urinary system and it is the only therapy helpful to treat patients with the very earliest Quebec platelet disorder last DDT desmopressin which is a synthetic analogue of the homeowner vasopressin it shortens the monthly and moderately prolonged bleeding times of patient with function disorders and is evidence of its effectiveness to control bleeding in mostly based on Kaiser person clinical experience in some clinical trials it proved to be effective in decreasing accessible at loss a loss in patient are going cardiac surgery which is characterized by increasing risk of bleeding to both internally Sabrina lytic fab analysis and a decreased platelet function it can be given both intravenously subcutaneously and internationally well I think I should stop here and just give a brief overview Thank You America we’ve got a question for dr. Cunha Sheena that you can see written down there actin filaments also disorganized in play but of act in one play patients or only in megakaryocytes affecting organization is completely normal Imperial blood platelets I suppose the abnormal of quinoa she do not transport it to try to credit through button from Daniel kara says that saw that I I think that abnormal affecting organization is only seen in Courage but not in a paper abroad flooded that what I reported in our make on general was my genetics paper in 2013 thank you okay thank you I’ve got one question that we might make our last to dr. Catania what is your recommendation regarding light transmission agronomy tree in patients whose platelet count is below 90 literally it denies ninety thousand ninety thousand thousand three millimeter editing well you should take it into into account the fact that the extent of little aggregation is of course lowering this patient and maybe you can also study this patient in women using beta activation detected by specific antibodies and maple by flow cytometry it is very difficult to you know to study better the aggregation with very low platelet count of course it is still useful to rule out the presence of a severe defects such as enhancement from a senior or burn Ashley syndrome but for the mild effect such as storage pool deficiency and so on it will be a rather difficult to diagnose these disorders in entirety with very low platelet count someone has to rely on other measures okay thank you very much I’d like to on behalf of everyone who’s joined didn’t thank both of our presenters for a couple of excellent talks thank you also to the sponsor of today’s presentation instrumentation laboratory we hope you found this a worthwhile entertaining session when the webinar ends attendees will be directed to an evaluation and quiz which can be completed for one hour of I am a credit follow a vice email will be sent to all attendees with the webinar handout this email will also include a link to the evaluation in quiz for attendees you cannot complete this see me immediately following the webinar our next webinar on plated function testing in the clinic will feature doctors Paolo Priscilla and Neil Morgan please see the website for details and to register as a reminder all of the webinar series are available in archive

the website via reference thank you again for joining and we look forward to seeing you next time

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