Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 178
Filter
1.
Chinese Journal of Pediatrics ; (12): 134-138, 2022.
Article in Chinese | WPRIM | ID: wpr-935657

ABSTRACT

Objective: To explore the clinical characteristics and genotype of PROS1 gene related hereditary protein S deficiency (PSD) with the onset of pulmonary embolism in children. Methods: A family with pulmonary embolism was diagnosed as hereditary PSD in the Department of Pediatrics of Peking University First Hospital in November 2020, and the clinical data, including clinical manifestations, laboratory tests, imaging and genetic results, were collected for a retrospective research. The family members were also screened for protein S activity and PROS1 gene mutations. A literature search with "PROS1" "protein S deficiency" "homozygous" and "complex heterozygous" as key words was conducted at PubMed, China National Knowledge Infrastructure, and Wanfang Data Knowledge Service Platform (up to October 2021). Case reports of patients with PROS1 gene homozygous or complex heterozygous variants and related clinical features, protein S activity, and genotype were reviewed and analyzed. Results: The proband, a 14-year-old girl, was admitted to the hospital for a 9-day history of coughing and a 4-day history of chest pain in November 2020. After admission, laboratory tests showed that D-dimer was 8.38 mg/L (reference:<0.24 mg/L). An urgent CT pulmonary angiography confirmed bilateral pulmonary embolism and right lower pulmonary infarction, while an ultrasonography showed deep vein thrombosis in her left leg. Further examination revealed that protein S activity was less than 10%. The proband's second sister, a 12-year-old girl, was admitted to the hospital in December 2020. Her protein S activity was 8% and an ultrasonography showed deep vein thrombosis in her right leg. The protein S activity of the proband's father and mother were 36% and 26%, respectively. Trio-whole-exome sequencing detected compound heterozygous PROS1 gene variants (c.-168C>T and c.200A>C (p.E67A)) for the proband and her second sister, that were inherited from her father and mother, respectively. The proband's third sister's protein S activity was 28%; she and the proband's grandfather both carried c.200A>C (p.E67A) variants. The proband and her younger sister were treated with rivaroxaban and responded well during the 3-month follow-up. A total of 1 Chinese report in literature and 18 English literature were retrieved and 14 patients with protein S deficiency caused by homozygous or complex heterozygous variants of PROS1 gene were enrolled, including 8 male and 6 female patients. The ages ranged from 4 days to 35 years. Three patients experienced fulminant purpura or severe intracranial hemorrhage in early neonatal-period, while the remaining 11 patients developed venous thromboembolism in adolescence. Protein S activity was examined in 11 patients, and all showed less than 10% of activity. Missense variants was the most common type of gene variants. Conclusions: For children with pulmonary embolism, if there are no clear risk factors for thrombosis, hereditary protein S deficiency should be considered, and protein S activity should be examined before oral anticoagulant drugs. If protein S activity is less than 10%, protein S deficiency caused by homozygous or complex heterozygous variants should be considered.


Subject(s)
Adolescent , Child , Child, Preschool , Female , Humans , Infant, Newborn , Male , Pedigree , Protein S/genetics , Protein S Deficiency/genetics , Pulmonary Embolism/genetics , Retrospective Studies
2.
Chinese Journal of Hematology ; (12): 48-53, 2022.
Article in Chinese | WPRIM | ID: wpr-929529

ABSTRACT

Objective: To analyze the clinical manifestations and molecular pathogenesis of 18 patients with inherited protein S (PS) deficiency. Methods: Eighteen patients with inherited PS deficiency who were admitted to the Institute of Hematology & Blood Diseases Hospital from June 2016 to February 2019 were analyzed: activity of protein C (PC) and antithrombin (AT) , PS activity were measured for phenotype diagnosis; high throughput sequencing (HTS) was used for screening of coagulation disease-related genes; Sanger sequencing was used to confirm candidate variants; Swiss-model was used for three-dimensional structure analysis. Results: The PS:C of 18 patients ranged from 12.5 to 48.2 U/dL. Among them, 16 cases developed deep vein thrombosis, including 2 cases each with mesenteric vein thrombosis and cerebral infarction, and 1 case each with pulmonary embolism and deep vein thrombosis during pregnancy. A total of 16 PROS1 gene mutations were detected, and 5 nonsense mutations (c.134_162del/p.Leu45*, c.847G>T/p.Glu283*, c.995_996delAT/p.Tyr332*, c.1359G> A/p.Trp453*, c.1474C>T/p.Gln492*) , 2 frameshift mutations (c.1460delG/p.Gla487Valfs*9 and c.1747_1750delAATC/p.Asn583Wfs*9) and 1 large fragment deletion (exon9 deletion) were reported for the first time. In addition, the PS:C of the deep vein thrombosis during pregnancy case was 55.2 U/dL carrying PROC gene c.565C>T/p.Arg189Trp mutation. Conclusion: The newly discovered gene mutations enriched the PROS1 gene mutation spectrum which associated with inherited PS deficiency.


Subject(s)
Antithrombin III/genetics , Female , Genetic Testing , Humans , Mutation , Pregnancy , Protein C/genetics , Protein S/genetics , Protein S Deficiency/genetics
3.
Article in Chinese | WPRIM | ID: wpr-880118

ABSTRACT

OBJECTIVE@#To test the anticoagulation functions, perform the genetic diagnosis and analyze the clinical characteristics in a family with combined heterozygous genetic variants of PROC and PROS1.@*METHODS@#Peripheral blood was collected from all the family members. Hematological phenotypes and activity of anticoagulant factors were analyzed. Target genes were amplified by PCR from DNA isolated from peripheral blood, and then were analyzed by Sanger DNA sequencing.@*RESULTS@#Many members in the family displayed the combined genetic variants in protein C and protein S, and six family members accompanied by deep venous thrombosis (DVT). The influences of genetic and secondary factors on the incidence of venous thrombosis in the family members were analyzed. The results showed that in this family, carriers of combined protein C and protein S gene defects had a higher incidence of VTE, but acquired factors still played a key role in the eventual thrombotic symptoms.@*CONCLUSION@#Venous thromboembolism (VTE) is a multifactorial disease, the combined genetic heterozygous mutations of protein C and S is an important genetic factor, and the clinical phenotype show a high heterogenicity, the secondary factors contribute to the VTE incidence.


Subject(s)
Heterozygote , Humans , Mutation , Protein C/genetics , Protein S/genetics , Risk Factors , Venous Thromboembolism , Venous Thrombosis/genetics
5.
Rev. Hosp. Ital. B. Aires (2004) ; 40(2): 63-75, jun. 2020. graf, ilus, tab
Article in Spanish | LILACS | ID: biblio-1102739

ABSTRACT

El objetivo de este artículo es proporcionar una guía que sirva para la interpretación y seguimiento de los esfuerzos que se están desarrollando en todo el mundo con el objetivo de obtener una vacuna que pueda generar inmunidad contra el nuevo coronavirus SARS-CoV-2 de 2019, el agente causante de la enfermedad por coronavirus denominada COVID-19. Cinco meses después de haber sido detectada la enfermedad, ya hay 102 vacunas en distintos estadios de desarrollo, registradas por la Organización Mundial de la Salud (OMS), correspondientes a 8 plataformas vacunales con diferentes estrategias, y todos los días aparecen nuevas. Esto representará un enorme desafío de organismos internacionales, para la evaluación, comparación y selección de aquellas que cumplan con los criterios regulatorios indispensables de seguridad y eficacia y que, por otro lado, puedan ser producidas en cantidades suficientes para abastecer la demanda mundial. (AU)


The objective of this article is to provide a guide to help the interpretation and monitoring the efforts that are being carried out worldwide to obtain a vaccine that will be able to generate immunity against the new 2019 SARS-CoV-2 coronavirus, the viral agent causes the disease named COVID-19. Five months after the disease was detected, there are already 102 vaccines at different stages of development, registered by World Health Organization (WHO), corresponding to 8 vaccination platforms base on different strategies, and every day new ones appear. This will represent a huge challenge for international organizations, to evaluate, compare and selects those that will meet the essential regulatory criteria of safety and efficacy and that, would be able to be produced in enough quantities to supply the worldwide demand. Key words: SARS-Cov-2 vaccine, vaccine platform, COVID-19 strategy, attenuated virus, viral vector, viral proteins, viral DNA, viral RNA, nucleic acids, viral like particles, WHO. (AU)


Subject(s)
Humans , Male , Female , Coronavirus Infections/therapy , SARS Virus/immunology , Pneumonia, Viral/therapy , DNA/therapeutic use , RNA/therapeutic use , Vaccines/therapeutic use , Nucleic Acids/therapeutic use , Protein S/immunology , Coronavirus Infections/virology , SARS Virus/physiology , SARS Virus/genetics , Disease Vectors
6.
Rev. colomb. anestesiol ; 48(1): 45-49, Jan.-Mar. 2020. tab
Article in English | LILACS, COLNAL | ID: biblio-1092919

ABSTRACT

Abstract Introduction: Congenital protein S deficiency is a very rare disease in the population. In pregnant women it is associated with spontaneous abortion and fetal death, among other complications. Case presentation: We present the case of a 32-year-old multigravida with a 36-week pregnancy, with thromboprophylaxis with enoxaparin from the 4th week of gestation and with a diagnosis of thrombophilia-due to functional protein S deficiency-which was intervened with elective c-section under spinal anesthesia. In addition, a review of the relevant literature was conducted. Discussion: The risk of venous thromboembolism is approximately 4 to 5 times greater during gestation, and the recommendation of thromboprophylaxis in low-risk thrombophilia is based on the presence of associated risk factors. In patients receiving low molecular weight heparin (LMWH) as thromboprophylaxis, an interval of at least 12 hours after the last dose of LMWH before neuropsy and restarting the next dose after at least 4hours of spinal technique use is recommended. Conclusion: Neuroaxial techniques should be individualized and receive pre and postpartum thromboprophylaxis. In addition, non-pharmacological thromboprophylaxis measures in the perioperative period should be considered. Spinal anesthesia was effective and safe in this patient.


Resumen Introducción: La deficiencia congénita de proteína S es una enfermedad muy rara en la población. En gestantes está asociada a aborto espontáneo y muerte fetal, entre otras complicaciones. Presentación del caso: Presentamos el caso de una multigesta de 32 años con embarazo de 36 semanas, con tromboprofilaxis con enoxaparina desde la semana cuarta de gestación y con diagnóstico de trombofilia -por deficiencia de proteína S funcional-, la cual fue intervenida con cesárea electiva bajo anestesia espinal. Además, se realizó revisión de la literatura al respecto. Discusión: El riesgo de tromboembolismo venoso es aproximadamente 4 a 5 veces mayor durante la gestación, y la recomendación de tromboprofilaxis en trombofilias de bajo riesgo se basa en la presencia de factores de riesgo asociados. En pacientes que reciben Heparinas de Bajo Peso Molecular (HBPM) como tromboprofilaxis, se recomienda un intervalo de al menos 12 horas después de la última dosis de HBPM antes de la punción del neuroeje, y reiniciar la siguiente dosis después de al menos 4 horas de uso de la técnica espinal. Conclusión: Las técnicas neuroaxiales deben ser individualizadas y recibir tromboprofilaxis pre y posparto. Además, se deben tener en cuenta las medidas de tromboprofilaxis no farmacológicas en el periodo perioperatorio. La anestesia espinal fue efectiva y segura en esta paciente.


Subject(s)
Humans , Female , Pregnancy , Protein Deficiency , Protein S , Anesthesia, Spinal , Thrombosis , Cesarean Section , Enoxaparin
7.
Article in English | WPRIM | ID: wpr-785373

ABSTRACT

During pregnancy, the procoagulant activity increases (manifested by elevation in factor VII, factor VIII, factor X, and fibrinogen levels), while the anticoagulant activity decreases (characterized by reduction in fibrinolysis and protein S activity), resulting in hypercoagulation. Standard coagulation tests, such as prothrombin time or activated partial thromboplastin time, are still used despite the lack of evidence supporting its accuracy in evaluating the coagulation status of pregnant women. Thromboelastography and rotational thromboelastometry, which are used to assess the function of platelets, soluble coagulation factors, fibrinogen, and fibrinolysis, can replace standard coagulation tests. Platelet count and function and the effect of anticoagulant treatment should be assessed to determine the risk of hematoma associated with regional anesthesia. Moreover, anesthesiologists should monitor patients for postpartum hemorrhage (PPH), and attention should be paid when performing rapid coagulation tests, transfusions, and prohemostatic pharmacotherapy. Transfusion of a high ratio of plasma and platelets to red blood cells (RBCs) showed high hemostasis success and low bleeding-related mortality rates in patients with severe trauma. However, the effects of high ratios of plasma and platelets and the ratio of plasma to RBCs and platelets to RBCs in the treatment of massive PPH were not established. Intravenous tranexamic acid should be administered immediately after the onset of postpartum bleeding. Pre-emptive treatment with fibrinogen for PPH is not effective in reducing bleeding. If fibrinogen levels of less than 2 g/L are identified, 2–4 g of fibrinogen or 5–10 ml/kg cryoprecipitate should be administered.


Subject(s)
Anesthesia, Conduction , Blood Coagulation Factors , Blood Transfusion , Drug Therapy , Erythrocytes , Factor VII , Factor VIII , Factor X , Female , Fibrinogen , Fibrinolysis , Hematoma , Hemorrhage , Hemostasis , Humans , Mortality , Partial Thromboplastin Time , Plasma , Platelet Count , Postpartum Hemorrhage , Postpartum Period , Pregnancy , Pregnant Women , Protein S , Prothrombin Time , Thrombelastography , Tranexamic Acid
8.
Article in English | WPRIM | ID: wpr-719669

ABSTRACT

BACKGROUND: Protein S deficiency is a common cause of thrombophilia. Free protein S has been suggested as one of the best screening tests for this deficiency. We evaluated an immunoturbidimetric free protein S reagent, INNOVANCE Free Protein S Antigen (Free PS Ag; Siemens Healthcare Diagnostics, Germany), using a CS-5100 coagulation analyzer (Sysmex, Japan). METHODS: The performance of INNOVANCE Free PS Ag was evaluated according to the CLSI guidelines. Precision, linearity, and verification of reference intervals were examined. The INNOVANCE Free PS Ag was also compared by the STA-Liatest Free Protein S immunoturbidimetric assay (Diagnostica Stago, France). RESULTS: The repeatability and within-laboratory imprecision of INNOVANCE Free PS Ag were 0.8% CV and 2.0% CV at the normal level, and 1.3% CV and 2.3% CV at the abnormally low level, respectively. This assay showed linearity from 4.0% to 151.9% (correlation coefficient r=1, P < 0.0001). Reference intervals for males and females were verified as acceptable. INNOVANCE Free PS Ag was comparable with STA-Liatest Free Protein S with a very high correlation (r=0.935, P < 0.0001). The results for the INNOVANCE antigen were higher. CONCLUSIONS: The INNOVANCE Free PS Ag on a Sysmex CS-5100 coagulation analyzer has excellent analytical performance and is comparable with the STA-Liatest Free Protein S assay.


Subject(s)
Delivery of Health Care , Female , Humans , Male , Mass Screening , Protein S Deficiency , Protein S , Thrombophilia
9.
Article in English | WPRIM | ID: wpr-741869

ABSTRACT

Antiphospholipid antibodies may be produced in cases involving autoimmune diseases and can sometimes be caused by infections, such as Mycoplasma pneumoniae infection. However, antiphospholipid antibodies causing thrombosis associated with M. pneumoniae pneumonia in children have rarely been reported. We report a case of an 8-year-old boy with M. pneumoniae pneumonia with antiphospholipid antibodies, complicated by brachial artery thrombosis. He was found to have antiphospholipid antibodies and low protein S levels. The brachial artery thrombus was removed via thrombectomy. The titers of antiphospholipid antibodies turned normal within 5 months. This is a rare case of M. pneumoniae infection with brachial artery thrombosis associated with transient antiphospholipid antibodies.


Subject(s)
Antibodies, Antiphospholipid , Autoimmune Diseases , Brachial Artery , Child , Humans , Male , Mycoplasma pneumoniae , Mycoplasma , Pneumonia , Pneumonia, Mycoplasma , Protein S , Thrombectomy , Thrombosis
10.
Acta neurol. colomb ; 34(2): 129-131, abr.-jun. 2018. graf
Article in Spanish | LILACS | ID: biblio-949622

ABSTRACT

RESUMEN La trombosis venosa cerebral (TVC) representa el 0,5 % de todos los eventos vasculares cerebrales a nivel mundial; es una entidad compleja y de difícil diagnóstico, dada la variabilidad en el modo de presentación, el pronóstico y la diversidad de condiciones médicas que la originan. Ocurre por obstrucción del drenaje venoso cerebral. Su principal manifestación en lactantes y niños son las convulsiones. Este es el caso de una TVC por déficit de proteína S en un paciente pediátrico, el objetivo de este caso es destacar la importancia de la sospecha e identificación temprana de la enfermedad, así como la búsqueda del factor desencadenante. La TVC es una entidad grave, es potencialmente tratable y su pronóstico dependerá de la oportunidad del diagnóstico e intervención.


SUMMARY Cerebral venous sinus thrombosis represents 0.5 % of all cases worldwide. Is a complex pathology cause the variability in presentation mode, prognosis and different medical conditions that cause it. The cause is the obstruction of cerebral venous drainage, the main manifestation in infants and children are seizures. This is the case of cerebral venous sinus thrombosis in a pediatric patient with protein S deficiency, the goal of this case is to recognize the importance of suspicion and early identification of the disease and the search of the trigger. The cerebral venous sinus thrombosis is a serious entity, but potentially treatable and prognosis depend on the timing of diagnosis and intervention.


Subject(s)
Sinus Thrombosis, Intracranial , Protein S , Thrombophilia , Cranial Sinuses
11.
Article in English | WPRIM | ID: wpr-714199

ABSTRACT

BACKGROUND: Venous thromboembolism (VTE) is rare in pediatric patients compared to adults, but it's incidence is gradually increasing. The purpose of this study was to analyze the incidence, risk factors, and prognosis of pediatric patients with VTE in Korea. METHODS: Between January 2000 and July 2017, 249,312 medical records of the patients older than 1 year who were hospitalized in the department of pediatrics of 10 university hospitals in Yeungnam region were retrospectively reviewed. RESULTS: The overall incidence of VTE was 4.9 per 10,000 admissions. Of the total 123 patients, 80 (65.0%) were male and the median age was 10.8 years (range, 1.0–23.5 years). Magnetic resonance imaging was performed most frequently to confirm the diagnosis of VTE (43.1%). Thrombosis occurred in the cerebral vessels (46.3%), lower extremities (23.8%), pulmonary (19.5%), abdomen (9.8%), and upper extremities (4.1%). One hundred and six patients had underlying causes such as cancer (27.6%), infection (26.8%), intravenous catheter insertion (17.9%), and surgery (14.6%). Protein C was evaluated in 39 patients (31.7%), protein S in 40 (32.5%), antithrombin (AT) III in 52 (42.3%), and homocysteine in 21 (17.1%). Among them, one patient with a family history of AT III deficiency had SERPINC gene mutation. Seventy-seven patients (62.6%) started anticoagulation treatment. Most (52.0%) were treated for more than 90 days. CONCLUSION: Healthcare providers must be aware of the potential for VTE development in childhood. In the near future, a nationwide survey should be investigated to determine the incidence rate and the trends in VTE among Korean children.


Subject(s)
Abdomen , Adult , Catheters , Child , Diagnosis , Epidemiology , Health Personnel , Homocysteine , Hospitals, University , Humans , Incidence , Korea , Lower Extremity , Magnetic Resonance Imaging , Male , Medical Records , Pediatrics , Prognosis , Protein C , Protein S , Retrospective Studies , Risk Factors , Thrombosis , Upper Extremity , Venous Thromboembolism
12.
Mem. Inst. Oswaldo Cruz ; 113(8): e180086, 2018. tab, graf
Article in English | LILACS | ID: biblio-1040598

ABSTRACT

Dynamic S-palmitoylation of proteins is the addition of palmitic acid by zDHHC palmitoyl transferases (PATs) and depalmitoylation by palmitoyl protein thioesterases (PPTs). A putative PAT (TcPAT1) has been previously identified in Trypanosoma cruzi, the etiological agent of Chagas disease. Here we analyse other 14 putative TcPATs and 2 PPTs in the parasite genome. T. cruzi cell lines expressing TcPATs and TcPPTs plus a FLAG tag at the C terminus were produced for most enzymes, with positive detection by indirect immunofluorescence. Overexpressed TcPATs were mostly found as single spots at the parasite anterior end, while the TcPPTs were dispersed throughout the parasite body.


Subject(s)
Palmitates/metabolism , Trypanosoma cruzi/metabolism , Protozoan Proteins/metabolism , Protein S/metabolism , Lipoylation/genetics , Trypanosoma cruzi/enzymology , Trypanosoma cruzi/genetics , Protozoan Proteins/genetics , Gene Expression Regulation , Protein S/genetics
13.
Article in English | WPRIM | ID: wpr-717635

ABSTRACT

Unprovoked deep vein thrombosis (DVT) is uncommon in pediatric patients and, among those, combined hereditary thrombophilia is particularly rare. We present a 9-year-old Korean boy who developed lower extremity pain with swelling, and was diagnosed with unprovoked DVT due to hereditary (combined hereditary thrombophilia). Coagulation test revealed antithrombin III and protein S deficiency. The genetic work up confirmed the first case of combined antithrombin III deficiency and protein S deficiency by SERPINC1 heterozygous termination mutation [c.685C>T (p.Arg229*)] and PROS1 heterozygous missense mutation [c.1597G>A (p.Val533Met)]. He was treated with continuous heparin and catheter intervention but those were ineffective or transiently effective. His DVT gradually improved only after prolonged anticoagulation.


Subject(s)
Antithrombin III Deficiency , Antithrombin III , Catheters , Child , Heparin , Humans , Lower Extremity , Male , Mutation, Missense , Protein S Deficiency , Protein S , Thrombophilia , Venous Thrombosis
14.
Article in Korean | WPRIM | ID: wpr-179977

ABSTRACT

PURPOSE: We report two young patients who developed central retinal vein occlusion (CRVO) without any systemic disease, and various thrombophilia tests were performed to determine the etiology. CASE SUMMARY: Two young patients, a 22-year-old female and a 23-year-old male, who had acute vision loss were diagnosed with nonischemic CRVO via fluorescein angiography. They had no other disease and no common risk factors for CRVO. We performed various tests to determine the thrombophilic risk factors and discovered a transient decrease in protein S antigen and protein C antigen in the female and male patients, respectively. CONCLUSIONS: CRVO in young patients without systemic disorders may have different mechanisms in the pathology and thus additional laboratory tests to determine thrombophilic disorders are necessary.


Subject(s)
Female , Fluorescein Angiography , Humans , Male , Pathology , Protein C , Protein C Deficiency , Protein S , Protein S Deficiency , Retinal Vein , Risk Factors , Thrombophilia , Young Adult
15.
Article in English | WPRIM | ID: wpr-225708

ABSTRACT

BACKGROUND/AIMS: This study aimed to investigate the risk factors associated with provoked pulmonary embolism (PE). METHODS: This retrospective cohort study included 237 patients with PE. Patients that had transient risk factors at diagnosis were classified as having provoked PE, with the remaining patients being classified as having unprovoked PE. The baseline clinical characteristics and factors associated with coagulation were compared. We evaluated the risk factors associated with provoked PE. RESULTS: Of the 237 PE patients, 73 (30.8%) had provoked PE. The rate of respiratory failure and infection, as well as the disseminated intravascular coagulation score and ratio of right ventricular diameter to left ventricular diameter were significantly higher in patients with provoked PE than in those with unprovoked PE. The protein and activity levels associated with coagulation, including protein C antigen, protein S antigen, protein S activity, anti-thrombin III antigen, and factor VIII, were significantly lower in patients with provoked PE than in those with unprovoked PE. Multivariate analysis showed that infection (odds ratio [OR], 3.2; 95% confidence interval [CI], 1.4 to 7.4) and protein S activity (OR, 0.97; 95% CI, 0.95 to 0.99) were significantly associated with provoked PE. CONCLUSIONS: Protein S activity and presence of infection were important factors associated with provoked PE. We should pay attention to the presence of infection in patients with provoked PE.


Subject(s)
Cohort Studies , Diagnosis , Disseminated Intravascular Coagulation , Factor VIII , Humans , Multivariate Analysis , Protein C , Protein S , Pulmonary Embolism , Respiratory Insufficiency , Retrospective Studies , Risk Factors
16.
Acta neurol. colomb ; 32(4): 305-309, oct.-dic. 2016. ilus, tab
Article in Spanish | LILACS | ID: biblio-949593

ABSTRACT

Resumen La trombosis venosa cerebral (TSVC) es un tipo de accidente cerebrovascular (ACV) que involucra el lado venoso de la circulación cerebral, incluye trombosis de los senos venosos durales y/o de las venas corticales y profundas del cerebro, es una causa poco común 0,5-1 % de todos los accidentes cerebrovasculares, con una prevalencia estimada en el rango entre 0. 22 a 1,23 / 100.000 / año. Los factores de riesgo para TSVC, están generalmente divididos en riesgos adquiridos (por ejemplo: cirugía, trauma, embarazo, puerperio, síndrome antifosfolípido, cáncer, hormonas exógenas) y los riesgos genéticos (trombofilia hereditaria). Los factores de riesgo más ampliamente estudiados para TSVC incluyen estados protrombóticos, las trombofilias heredadas asociadas con TSVC incluyen deficiencias de antitrombina, proteína C, proteína S (PS), mutación del factor V Leiden y la mutación del gen 20210 de protrombina. La prevalencia del déficit de PS, oscila entre un 0,02 y un 0,03 % en la población general y aumenta hasta un 2 % en pacientes no seleccionados con trombosis. Con una mortalidad cercana al 9 %. El manejo es usualmente médico. Se cita el caso de una paciente de 28 años de edad, con cuadro clínico de cefalea de 1 mes de evolución, con hallazgos en neuroimagen de trombosis de senos transverso y sigmoideo izquierdo con déficit de proteína S.


Summary Cerebral venous thrombosis (TSVC) is a type of stroke (CVA) involving the venous side of the cerebral circulation, including thrombosis of the dural venous sinuses and / or cortical and deep veins of the brain, is a rare cause 0.5-1% of all strokes, with an estimated range between 0. 22 to 1.23 / 100,000 / year prevalence. Risk factors for TSVC, are generally divided into acquired risks (eg, surgery, trauma, pregnancy, postpartum, antiphospholipid syndrome, cancer, exogenous hormones) and genetic risks (hereditary thrombophilia). The most widely studied factors TSVC risk include prothrombotic states, inherited thrombophilia associated with deficiencies TSVC include antithrombin, protein C, protein S (PS), mutation of factor V Leiden mutation and prothrombin 20210 gene. The prevalence of PS deficit ranges between 0.02 and 0.03% in the general population and increases up to 2% in unselected patients with thrombosis. With close to 9% mortality. The operation is usually doctor. It cites the case of a 28-year-old, with clinical symptoms of headache 1 month of evolution with neuroimaging findings transverse sinus thrombosis and left sigmoid with protein S deficiency.


Subject(s)
Thrombosis , Protein S , Thrombophilia , Headache
17.
Rev. méd. hered ; 27(1): 46-49, ene.-jun. 2016.
Article in Spanish | LILACS, LIPECS | ID: lil-786609

ABSTRACT

Se reporta el caso de una mujer joven de 38 años de edad, con accidente cerebrovascular isquémico agudo y deficiencia de proteína S más foramen oval patente. La paciente acudió al servicio de emergencia por presentar hemiparesia derecha y disartria, de forma súbita. Al examen físico se evidenció marcada disminución de la fuerza muscular en hemicuerpo derecho con signo de Babinski positivo. La tomografía cerebral mostró una hipodensidad cortico-subcortical témporo-parietal izquierda y la angioresonancia confirmó signos de infarto. La ecocardiografía transtorácica evidenció foramen oval patente y en los estudios de hipercoagulabilidad se encontró deficiencia de la Proteína S.


We report the case of 38-year-old woman presenting with an ischemic cerebrovascular accident, protein S deficiency and patent foramen ovale. The patient attended the emergency room for presently a sudden onset of right hemiparesis and dysarthria. The physical examination revealed marked palsy on the right side with positive Babinski sign. The cerebral CT-scan revealed a cortico-sub cortical left temporal-parietal hypo density, and the angio magnetic resonance confirmed the presence of cerebral infarct. A trans thoracic echocardiography revealed the presence of a patent foramen ovale and laboratory tests showed deficiency of S protein.


Subject(s)
Humans , Female , Young Adult , Stroke , Foramen Ovale , Protein S
18.
Neonatal Medicine ; : 233-237, 2016.
Article in English | WPRIM | ID: wpr-100482

ABSTRACT

Protein C (PROC) deficiency is caused by mutations in the PROC gene on chromosome 2q14.3. Patients with PROC deficiency typically present distinguished purpura, intracerebral and intravascular coagulopathy, and ophthalmologic complications. Here, we report a rare severe form of PROC deficiency resulting from a compound heterozygosity in PROC. The patient was a 5-day-old female neonate born at 39 weeks of gestation with a birth weight of 2,960 g. She was transferred to our hospital with running a fever at 38.5℃ and with dark red patches on her feet. At admission, a complete blood count showed no specific findings, but levels of PROC and protein S were abnormally low (1% and 68%, respectively). Magnetic resonance imaging revealed intracerebral hemorrhaging and parenchymal damage with dysplasia of the brain. Ophthalmologic examination revealed vitreous hemorrhaging with retinal detachment. Genetic testing revealed a missense mutation (Arg211Trp) and a frameshift mutation (Gly239Serfs*8) in PROC, inherited from the father and mother, respectively. The patient recovered from purpura after undergoing ventriculoperitoneal shunting and treatment with fresh frozen plasma, warfarin sodium, and PROC concentrate. This is the first report of severe neonatal PROC deficiency with purpura fulminans, vitreous hemorrhage, and intracerebral hemorrhage confirmed via PROC genetic testing, which identified a rare compound heterozygosity of PROC.


Subject(s)
Birth Weight , Blood Cell Count , Brain , Cerebral Hemorrhage , Diagnosis , Fathers , Female , Fever , Foot , Frameshift Mutation , Genetic Testing , Humans , Infant, Newborn , Magnetic Resonance Imaging , Mothers , Mutation, Missense , Plasma , Pregnancy , Protein C Deficiency , Protein C , Protein S , Purpura , Purpura Fulminans , Retinal Detachment , Running , Ventriculoperitoneal Shunt , Vitreous Hemorrhage , Warfarin
19.
Article in English | WPRIM | ID: wpr-129974

ABSTRACT

OBJECTIVE: The goal of this study was to evaluate the etiologies and clinical outcomes of Korean recurrent pregnancy loss (RPL) patients. And also, we investigated the differences between primary and secondary RPL patients, between two and three or more pregnancy losses. METHODS: One hundred seventy eight women diagnosed as RPL were enrolled. We performed chromosomal analysis, thyroid stimulating hormone, prolactin, blood glucose, plasminogen activator inhibitor-1, natural killer cell proportion, anticardiolipin antibodies, antiphospholipid antibodies, lupus anticoagulant, anti-β2glycoprotein-1 antibodies, antinuclear antibody, protein C, protein S, antithrombin III, homocysteine, MTFHR gene, factor V Leiden mutation, and hysterosalphingography/hysteroscopic evaluation. RESULTS: The mean age was 34.03±4.30 years, and mean number of miscarriages was 2.69±1.11 (range, 2 to 11). Anatomical cause (13.5%), chromosomal abnormalities (5.6%), and endocrine disorders (34.3%) were observed in RPL women. Elevated natural killer cell and antiphospholipid antibodies were observed in 43.3% and 7.3% each. Among of 178 women, 77 women were pregnant. After management of those women, live birth rate was 84.4% and mean gestational weeks was 37.63±5.12. Women with three or more RPL compared with women with two RPL had more common anatomical cause such as intrauterine adhesions and lower rates of spontaneous pregnancy. Compare with secondary RPL women, immunological abnormalities were more common in primary RPL. However, miscarriage rates were not different. CONCLUSION: Immunological factor including autoimmune and alloimmune disorders was most common etiology of RPL. Inherited thrombophilia showed different patterns with other ethnic countries. Miscarriage rates were not different between primary and secondary RPL, or between two and three or more miscarriages group.


Subject(s)
Abortion, Spontaneous , Antibodies, Anticardiolipin , Antibodies, Antinuclear , Antibodies, Antiphospholipid , Antithrombin III , Blood Glucose , Chromosome Aberrations , Factor V , Female , Homocysteine , Humans , Killer Cells, Natural , Live Birth , Lupus Coagulation Inhibitor , Plasminogen Activators , Pregnancy , Pregnancy Outcome , Pregnancy , Prolactin , Protein C , Protein S , Thrombophilia , Thyrotropin
20.
Article in English | WPRIM | ID: wpr-129959

ABSTRACT

OBJECTIVE: The goal of this study was to evaluate the etiologies and clinical outcomes of Korean recurrent pregnancy loss (RPL) patients. And also, we investigated the differences between primary and secondary RPL patients, between two and three or more pregnancy losses. METHODS: One hundred seventy eight women diagnosed as RPL were enrolled. We performed chromosomal analysis, thyroid stimulating hormone, prolactin, blood glucose, plasminogen activator inhibitor-1, natural killer cell proportion, anticardiolipin antibodies, antiphospholipid antibodies, lupus anticoagulant, anti-β2glycoprotein-1 antibodies, antinuclear antibody, protein C, protein S, antithrombin III, homocysteine, MTFHR gene, factor V Leiden mutation, and hysterosalphingography/hysteroscopic evaluation. RESULTS: The mean age was 34.03±4.30 years, and mean number of miscarriages was 2.69±1.11 (range, 2 to 11). Anatomical cause (13.5%), chromosomal abnormalities (5.6%), and endocrine disorders (34.3%) were observed in RPL women. Elevated natural killer cell and antiphospholipid antibodies were observed in 43.3% and 7.3% each. Among of 178 women, 77 women were pregnant. After management of those women, live birth rate was 84.4% and mean gestational weeks was 37.63±5.12. Women with three or more RPL compared with women with two RPL had more common anatomical cause such as intrauterine adhesions and lower rates of spontaneous pregnancy. Compare with secondary RPL women, immunological abnormalities were more common in primary RPL. However, miscarriage rates were not different. CONCLUSION: Immunological factor including autoimmune and alloimmune disorders was most common etiology of RPL. Inherited thrombophilia showed different patterns with other ethnic countries. Miscarriage rates were not different between primary and secondary RPL, or between two and three or more miscarriages group.


Subject(s)
Abortion, Spontaneous , Antibodies, Anticardiolipin , Antibodies, Antinuclear , Antibodies, Antiphospholipid , Antithrombin III , Blood Glucose , Chromosome Aberrations , Factor V , Female , Homocysteine , Humans , Killer Cells, Natural , Live Birth , Lupus Coagulation Inhibitor , Plasminogen Activators , Pregnancy , Pregnancy Outcome , Pregnancy , Prolactin , Protein C , Protein S , Thrombophilia , Thyrotropin
SELECTION OF CITATIONS
SEARCH DETAIL