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Bernard soulier syndrome 1. Bernard-Soulier Syndrome An Inherited Platelet Disorder 2. • Bernard-Soulier syndrome (BSS) was first recognized in 1948 by two French hematologists—Jean Bernard and Jean Pierre Soulier. • They described a patient from a consanguineous family afflicted with severe bleeding episodes, thrombocytopenia, and very. Bernard Soulier Syndrome:Eng fx V 5/01/06 4/14/08 10:50 AM Page 11. BERNARD-SOULIER SYNDROME - AN INHERITED BLEEDING DISORDER 12 •Alwayswearahelmetwhen doingphysicalactivitiessuchas ridingabicycleorskiing.Avoidfull-contactsports(e.g. boxing,footballandhockey)duetotheirhigherrisko

Bernard soulier syndrome - SlideShar

  1. Bernard-Soulier syndrome (BSS) was first described in 1948 as a congenital bleeding disorder characterized by thrombocytopenia and large platelets. The disorder was recognized to be familial and inherited in an autosomal recessive manner
  2. Bernard-Soulier syndrome is usually inherited in an autosomal recessive genetic pattern. Recessive genetic disorders occur when an individual inherits an abnormal gene from each parent. If an individual receives one normal gene and one abnormal gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms
  3. Bernard-Soulier syndrome (BSS) is an extremely rare inherited blood clotting disorder that is characterized by giant platelet cells, thrombocytopenia, and prolonged bleeding time. In 1948, Jean-Bernard and Jean-Pierre Soulier described the first male patient who presented with repeated episodes of b
  4. JG White, in Blood and Bone Marrow Pathology (Second Edition), 2011. Bernard-Soulier syndrome (BSS) BSS 150 is an autosomal recessively inherited hemorrhagic disorder resulting from platelet inability to adhere to vascular subendothelium as a consequence of a surface membrane defect. 151. At least three of the major glycoproteins, GPIb, GPIX, and GPV, are modified or absent from the surface.
  5. Bernard-Soulier Syndrome (BSS) is a very rare platelet disorder. Fewer than one person in a million has it. Like the other bleeding disorders in The Handbook, people are born with it and it affects both men and women.. Bernard-Soulier Syndrome (BSS) is named for the two French hematologists who first described it in 1948, Jean Bernard and Jean Pierre Soulier
  6. Bernard-Soulier syndrome (BSS) is an inherited, usually autosomal recessive, platelet bleeding abnormality, characterized by a prolonged bleeding time, large platelets and thrombocytopenia.1 In 1975, Nurden and Caen reported that platelets from BSS patients lacked a major surface membrane glycoprotein complex,2 subsequently demonstrated to be the component subunits of the glycoprotein (GP)Ib.
  7. Bernard-Soulier syndrome (BSS) is a rare blood disorder of the platelets. It is a hereditary autosomal recessive disorder. Patients with BSS have large platelets, thrombocytopenia and a longer.

Bernard-Soulier syndrome is a bleeding disorder associated with abnormal platelets, which are blood cells involved in blood clotting. In affected individuals, platelets are unusually large and fewer in number than usual (a combination known as macrothrombocytopenia). People with Bernard-Soulier syndrome tend to bruise easily and have an. Bernard-Soulier syndrome results from a deficiency of platelet glycoprotein protein Ib, which mediates the initial interaction of platelets with the subendothelial components via the von. Bernard-Soulier syndrome (BSS), is a rare autosomal recessive bleeding disorder that is caused by a deficiency of the glycoprotein Ib-IX-V complex (GPIb-IX-V), the receptor for von Willebrand factor. The incidence of BSS is estimated to be less than 1 case per million persons, based on cases reported from Europe, North America, and Japan

Bernard-Soulier Syndome (also called Giant Platelet Syndrome) is a disorder of platelet function. Glycoproteins are one of the many proteins that help platelets work well to plug holes in damaged blood vessels and start the process of making a blood clot. Glycoproteins can serve as a bridge that connects platelets to each other Bernard Soulier Syndrome & Glanzmann's Thrombasthenia / Mnemonic Series # 21Bernard-Soulier syndrome (BSS), also called hemorrhagiparous thrombocytic dystrop.. The first clue to the molecular abnormality affecting the platelets of patients with this disorder (now known as the Bernard-Soulier syndrome [BSS]) came in 1969 from the work of Gröttum and Solum,2 who noted reduced electrophoretic mobility of the platelets due to a marked decrease in the concentration of sialic acid on their membranes. . Subsequently, Howard et al3 and Caen and Levy. Bernard-Soulier syndrome is an autosomal recessive bleeding disorder caused by a defect in or deficiency of the platelet membrane von Willebrand factor (VWF; 613160) receptor complex, glycoprotein Ib (GP Ib). GP Ib is composed of 4 subunits encoded by 4 separate genes: GP1BA, GP1BB, GP9, and GP5 (173511). Genetic Heterogeneity of Platelet-Type Bleeding Disorders Inherited platelet disorders.

Bernard-Soulier syndrome caused by a dinucleotide deletion and reading frameshift in the region encoding the glycoprotein Ib transmembrane domain. Blood. 1997;90:2634-43. 79. Afshar-Kharghan V, Craig FE, Lopez JA. Bernard-Soulier syndrome in a patient doubly heterozygous for two frameshift mutations in the glycoprotein Ib gene www.mednotez.comMedical Video

Bernard-Soulier syndrome is a rare inherited disease and is transmitted in an autosomal recessive pattern. This means that both parents must carry a gene for the Bernard-Soulier syndrome and transmit that gene to the child for the child to have the disease. The prevalence is believed to be less than one in 1 million individuals The Bernard-Soulier syndrome ranked seventh among the most common coagulation disorders; it is a rare genetic disease, characterized by dysfunction or absence of the glycoprotein Ib-IX-V platelet complex, which is the main receptor of von Willebran Clin. Lab. Haem. 2006, 28, 198-201 Bernard-Soulier syndrome in pregnancy P. PRABU, Director of Haemophilia Centre, Bradford Teaching Hospitals NHS Foundation Trust, Duckworth L. A. PARAPIA Lane, Bradford BD9 6RJ, UK Summary Bernard-Soulier syndrome (BSS) is a rare autosomal recessively inherited bleeding disorder Bernard-Soulier syndrome occurs when platelets lack a substance that sticks to the walls of blood vessels. Platelets are typically large and of reduced number. This disorder may cause severe bleeding. Glanzmann thrombasthenia is a condition caused by the lack of a protein needed for platelets to clump together. Platelets are typically of normal. Bernard-Soulier syndrome (BSS), also known as Hemorrhagiparous thrombocytic dystrophy, is a hereditary bleeding disorder affecting the megakaryocyte/platelet lineage and characterized by bleeding tendency, giant blood platelets and low platelet counts. This syndrome is extremely rare as only ~100 cases have been reported in the literature. Clinical manifestations usually include purpura.

Abstract. Bernard-Soulier syndrome (BSS), a hereditary qualitative platelet disorder, is now proved to be caused by a qualitative or quantitative abnormality of the platelet glycoprotein (GP) Ib/IX/V complex. We investigated the genetic background of two Japanese females with BSS and identified the molecular defects underlying this disease Bernard-Soulier syndrome, type B. 231200. Autosomal recessive. 3. GP1BB. 138720. TEXT. A number sign (#) is used with this entry because Bernard-Soulier syndrome (BSS) has been found to be caused by mutation in the GP1BA gene (606672), the GP1BB gene (138720), or the GP9 gene (173515); the forms of BSS caused by homozygous or compound. PFA is very sensitive in detecting Bernard-Soulier syndrome (BSS), platelet-type von Willebrand disease (VWD), and Glanzmann thrombasthenia (GT), but may be normal in patients with storage pool deficiencies and platelet membrane phospholipid disorders. 1,3,7 The basic investigation of IPD should include light transmission aggregometry (LTA. What is Bernard-Soulier syndrome? Bernard-Soulier syndrome is a very rare platelet function disorder. There are around 96 people with Bernard-Soulier syndrome in the UK. It is a bleeding disorder caused by an abnormality found in your genes (part of the DNA that you inherit from your parents). These genes affect a group of linked protein Bernard Soulier FR Syndrome:Eng fx V 5/01/06 4/14/08 10:51 AM Page 14. LE SYNDROME DE BERNARD-SOULIER - UN TROUBLE HÉRÉDITAIRE DE LA COAGULATION DU SANG 15 Références AmesseC,LacroixS,LupienG.Sociétécanadiennedel'hémophilie.LadéficienceenfacteurVII

Le Syndrome de Bernard-Soulier correspond à une anomalie génétique qui peut toucher aussi bien les femmes que les hommes. Il existe deux formes de cette maladie : La forme sévère Le mode de transmission de la forme sévère est autosomique récessif, ce qui signifie que le pa-tient porte deux exemplaires du gène muté. On di Bernard-Soulier syndrome is a rare inherited bleeding disorder. It is most commonly misdiagnosed as immune thrombocytopenia, which leads to unnecessary interventions like splenectomy. The most common presentation is that of bleeding child, presenting with thrombocytopenia and giant platelets

Bernard-Soulier syndrome (BSS) adalah kelainan bawaan pada proses pembekuan darah (koagulasi) langka yang ditandai dengan trombosit yang terdapat pada pembuluh darah berukuran besar yang berukuran tidak biasa, jumlah trombosit yang rendah (trombositopenia) dan waktu perdarahan yang lama . Individu yang mengalami gangguan ini cenderung berdarah berlebihan dan mudah memar Bernard-Soulier syndrome is a rare autosomal recessive coagulopathy that causes a deficiency of glycoprotein Ib (GpIb), the receptor for von Willebrand factor, an important glycoprotein involved in platelet plug formation. Bernard-Soulier syndrome is characterized by prolonged bleeding time, thrombocytopenia, increased megakaryocytes, and. Bernard-Soulier syndrome is an autosomal recessive bleeding disorder caused by a defect in or deficiency of the platelet membrane von Willebrand factor (VWF; 613160) receptor complex, glycoprotein Ib (GP Ib).GP Ib is composed of 4 subunits encoded by 4 separate genes: GP1BA, GP1BB, GP9, and GP5 ().Genetic Heterogeneity of Platelet-Type Bleeding Disorder Bernard-soulier syndrome Bernard-Soulier syndrome is an inherited platelet function disorder caused by an abnormality in the receptor for von Willebrand factor (VWF; see Figure 2). This receptor is also called the GpIb/V/IX receptor. Receptors are proteins on the surface of the platelets that help them interact with, an

Bernard-Soulier syndrome (BSS) is a bleeding disorder that was first described in 1948 by Jean Bernard and Jean Pierre Soulier. Although the frequency of BSS is approximately 1 in 1,000,000 it is still the second most common inherited bleeding disorder that results as a consequence of defects in platelet function Background: Bernard-Soulier Syndrome (BSS) is a rare autosomal recessively inherited bleeding disorder of platelet function. Pregnancy in BSS is associated with a high risk of serious bleeding for both mother and neonate, and current data show no consensual approach. Aim: To report the case of a pregnant woman with BSS, in order to provide more information about management of these cases Bernard-Soulier syndrome (BSS; 2019 ICD-10-GM: D69.1) is a rare inherited bleeding disorder characterised by abnormal platelet morphology, count and function. First characterised by Jean Bernard and Jean Pierre Soulier in 1948, BSS has a prevalence of approximately 1:1,000,000 population irrespective of sex, although BSS may be underreported. Background Bernard-Soulier syndrome is a severe bleeding disease due to a defect of GPIb/IX/V, a platelet complex that binds the von Willebrand factor. Due to the rarity of the disease, there are reports only on a few cases compromising any attempt to establish correlations between genotype and phenotype. In order to identify any associations, we describe the largest case series ever reported.

Bernard-Soulier Syndrome Clinical Presentation: History

Bernard-Soulier Syndrome - NORD (National Organization for

PPT - Bleeding and Anticoagulation PowerPoint PresentationUntitled - Screen 7 on FlowVella - Presentation Software

Bernard Soulier Syndrome - PubMe

Bernard-Soulier syndrome is the result of the absence or decreased expression of the GPIb /IX/V complex on the surface of the platelets. Bernard-Soulier syndrome may be caused by abnormality in the genes for glycoprotein Ib/IX/V. The prevalence of Bernard-Soulier syndrome is approximately 1 per 100,000 individuals worldwide A number sign (#) is used with this entry because of evidence that an autosomal dominant form of Bernard-Soulier syndrome can be caused by heterozygous mutations in the gene encoding platelet glycoprotein Ib-alpha (GP1BA; 606672) on chromosome 17p. Homozygous or compound heterozygous mutations in the GP1BA gene cause classic autosomal recessive Bernard-Soulier syndrome (BSSA1; 231200) Bernard-Soulier Syndrome is a rare congenital bleeding disorder, mainly inherited in an autosomal recessive pattern. It is characterized by a genetic defect on one of the four genes encoding the subunits of the transmembrane protein complex GPIb-V-IX, physiologically expressed only in platelets. The exact phenotype varies widely from individual to individual depending on the particular. Bernard-Soulier Disease. A 3-week-old boy is brought to the pediatrician to undergo a circumcision. Despite the procedure being uncomplicated, the bleeding has not subsided after a few hours. Complete blood count is significant for a platelet count of 85,000/mm3. Peripheral blood smear is shown In Bernard‐Soulier syndrome, a hereditary bleeding disorder, the platelets are deficient in the glycoprotein (GP) Ib-IX-V complex, a major receptor for the von Willebrand factor. The components of the complex are encoded by separate genes. Patients with this syndrome have a variable expression level of the receptor protein on platelets.

Bernard-Soulier Syndrome - an overview ScienceDirect Topic

Bernard-Soulier syndrome type A2: 1: Path 2; Term: Annotations disease: 16106 Developmental Diseases: 9562 Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 8398 genetic disease: 7915 monogenic disease: 5688 autosomal genetic disease: 4836 autosomal recessive disease: 2666 Bernard-Soulier syndrome: 4 Bernard-Soulier Syndrome. Bernard-Soulier Syndrome, also known as hemorrhagiparous thrombocytic dystrophy, is an extremely rare genetic disorder that is characterized by the absence of glycoprotein which is vital to clot formation. The symptoms of Bernard-Soulier Syndrome include postoperative bleeding, easy bruising, and bleeding gums متلازمة برنارد سوليير أو متلازمة برنار - سولييه (بالأنجليزية: Bernard-Soulier syndrome واختصارها: BSS)، والتي تسمى أيضا حثل الصفيحات النزفي (بالأنجليزية: hemorrhagiparous thrombocytic dystrophy)، هي اعتلال خثري نادر مسؤول عنه صبغي جسمي متنحي (اضطراب.

Bernard-Soulier Syndrome > The Basics > HoG Handbook

Penderita Bernard Soulier Syndrome membutuhkan perawatan medis terus menerus agar tidak terjadi pendarahan berlebih. Namun, perawatan medis membutuhkan uang yang tidak sedikit. Kamu bisa membantu teman yang kurang mampu untuk menjangkau pengobatan layak. Klik Untuk Donasi - Ilham Semakin Kurus Akibat Tumor Ganas Menggerogoti Tubuhnya. Bernard-Soulier syndrome (BSS) is a bleeding disorder that makes it difficult for the body to form blood clots. People affected with BSS have abnormal platelets, which are the components of blood that clump and clot to stop bleeding. Individuals with BSS have fewer platelets than usual, and these platelets are unusually large Bernard Soulier syndrome in adults. BSS is usually described as an autosomal recessive macrothrombocytopenia with giant platelets (bBSS). Most cases of BSS are diagnosed in childhood but some patients who may have milder, autosomal dominant form of BSS may present later in life (Alamelu & Liesner, 2010) Bernard-Soulier syndrome (BSS) is an inherited, usually autosomal recessive, platelet bleeding abnormality, characterized by a prolonged bleeding time, large platelets and thrombocytopenia. 1 In 1975, Nurden and Caen reported that platelets from BSS patients lacked a major surface membrane glycoprotein complex, 2 subsequently demonstrated to be the component subunits of the glycoprotein (GP)Ib.

PPT - DISORDERS OF PRIMARY HEMOSTASIS PowerPoint

Bernard-Soulier syndrome Haematologic

Bernard-Soulier-Syndrom. nach den französischen Hämatologen Jean-Bernard (1907-2006) und Jean-Pierre Soulier (1915-2003) Synonym: BSS, hämorrhagische Thrombozytendystrophie. Englisch: Bernard-Soulier-Syndrome, hemorrhagiparous thrombocytic dystrophy Platelets, the smallest cells in the blood, are associated with hemostasis, bowel formation, tissue remodeling, and wound healing. Although the prevalence of inherited platelet disorders is not fully known, it is a rare disease group and is encountered in approximately between 10000 and 1000000. Glanzmann thrombasthenia (GT) and Bernard-Soulier syndrome (BSS) are more frequently observed in. Bernard-Soulier syndrome synonyms, Bernard-Soulier syndrome pronunciation, Bernard-Soulier syndrome translation, English dictionary definition of Bernard-Soulier syndrome. n. 1. A group of symptoms that collectively indicate or characterize a disease, disorder, or other condition considered abnormal. 2. a. A complex of.. Andrews RK, Berndt MC. Bernard-Soulier syndrome: an update. Semin Thromb Hemost. 2013; 39: 656-662. pmid:23929303 . View Article PubMed/NCBI Google Scholar 8. Savoia A, Kunishima S, De Rocco D, Zieger B, Rand ML, Pujol-Moix N, et al. Spectrum of the mutations in Bernard-Soulier syndrome

Glanzmann thrombasthenia

Bernard-Soulier Syndrome - Causes, Symptoms, Diagnosis

Blog. June 8, 2021. Exploring workforce trends: A LinkedIn video series; June 3, 2021. Creating connections between content and mission; June 1, 2021. Supporting collaboration and teamwork in a hybrid workplac Bernard-Soulier syndrome (BSS) is an inherited, usually autosomal recessive, platelet bleeding abnormality, characterized by a prolonged bleeding time, large platelets and thrombocytopenia.[1][1] In 1975, Nurden and Caen reported that platelets from BSS patients lacked a major surface membran

PPT - BLEEDING DISORDERS PowerPoint Presentation, free

Bernard-Soulier syndrome: MedlinePlus Genetic

Bernard-Soulier syndrome (BSS): BSS is an autosomic recessive hereditary bleeding diatesis. The disease is considered a rare disease due to its relatively low frequency in humans but it is also included in the orphan disease list since it is frequently overlooked or misdiagnosed. BSS is caused by a defective platelet membrane receptor which. Overview. Initial symptoms of Bernard-Soulier syndrome (BSS) such as epistaxis, gingival bleeding, purpura and bruising, which range from mild to severe, often present in infancy and are common to many other bleeding disorders. Thus, laboratory testing is needed to diagnose BSS. 1-3. Initial laboratory tests often reveal borderline prolonged to. Treatment for Bernard-Soulier Syndrome. Language: Change language to Español. share . People with mild BSS can sometimes be treated with DDAVP® for minor bleeding. Birth control pills may help some women with BSS who have very heavy periods. For severe bleeding. The Bernard-Soulier syndrome (BSS) is an autosomal recessive disorder chracterized by prologed bleeding time, giant platelets, and low platelet counts. Historical Aspects The first patient had been published by Bernard and Soulier in 1948--a young man with a severe bleeding disorder: prolonged bleeding time, thrombocytopenia, and extremely.

What is Bernard-Soulier syndrome? - Medscap

Bernard-Soulier syndrome (BSS) is a rare inherited autosomal recessive disease originally described in 1948 for the first time by two physicians with bleeding diathesis characterized by platelet dysfunction secondary to the absence of the von Willebrand factor (vWF) receptor on the platelet surface, called glycoprotein (GP) Ib-V-IX. The deficiency results in prolonged bleeding time (BT. Bernard-Soulier syndrome causes. Bernard-Soulier syndrome is caused by mutations in one of three genes: GP1BA, GP1BB, or GP9. The proteins produced from these genes are pieces (subunits) of a protein complex called glycoprotein (GP)Ib-IX-V. This complex is found on the surface of platelets and plays an important role in blood clotting El Síndrome de Bernard-Soulier también llamado distrofia trombocítica hemorrágica, es una enfermedad rara genética de herencia autosómica recesiva que afecta la correcta coagulación debido a la deficiencia de la glicoproteína Ib, receptor para el factor de von Willebrand, alterando de esta forma la hemostasia primaria. Se estima que la incidencia es menor a 1 e

Bernard-Soulier syndrome - Wikipedi

Bernard-Soulier syndrome is an autosomal recessive, platelet function adhesion disorder presenting with bruising, purpura, epistaxis and gingival bleeding. Initial diagnostic workup include an increased bleeding time and low to near normal platelet count and presence of giant platelets.11,12 The platelet count is usually low and can be as low. Bernard-Soulier disease is a rare inherited bleeding disorder characterized by abnormal blood platelets and abnormal blood clotting. Signs and symptoms of Bernard-Soulier disease include. bleeding excessively from cuts and other injuries, nosebleeds (epistaxis), easy bruising, bleeding from the gums, and. unusually heavy menstrual flow in women

PPT - THROMBOCYTOPENIA PowerPoint Presentation - ID:3319204PPT - THROMBOCYTOPENIA PowerPoint Presentation, free

La sindrome di Bernard-Soulier (BSS), è una rara malattia emorragica autosomica recessiva causata da un deficit del complesso glicoproteico Ib-IX-V (GPIb-IX-V), il recettore per il fattore di von Willebrand.Si stima che l'incidenza della BSS sia inferiore a 1 caso per milione di persone, sulla base dei casi segnalati in Europa, Nord America e Giappone Br. J. Haematol. 2020 Jan 30 High prevalence of the natural Asn89Asp mutation in the GP1BB gene associated with Bernard-Soulier syndrome in French patients from the genetic isolate of Reunion Island BDPLT1 Bernard-Soulier syndrome type A1 Bernard-Soulier syndrome type B Bernard-Soulier syndrome type C Bleeding disorder platelet-type 1 Giant platelet disease GPD Platelet glycoprotein Ib deficiency Von Willebrand factor receptor deficiency. Related websites MIM i › phenotype [ MIM:231200 ]. Abstract. Bernard-Soulier syndrome (BSS) is a rare mostly autosomal recessive platelet function disorder that is characterized by variable bleeding tendency, macrothrombocytopenia, impaired platelet agglutination in response to ristocetin, and defect in the glycoprotein (GP) Ib-IX-V complex Síndrome de bernard soulier. 1. TRASTORNOS CUALITATIVOS DE LA FUNCION PLAQUETARIA ETIOLOGIA -Causada por deficiencia en el gen Ib/IX/VII -Deficiencia en la adhesión plaquetaria al vaso lesionado por falta de un buen receptor Ib/IX/VII (Receptor del factor de Von Willebrand) -Es de herencia autosómica recesiva. 2

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