Systematic review: hereditary thrombophilia associated to pediatric strokes and cerebral palsy

Torres, Vinicius M.; Saddi, Vera Aparecida

doi:10.1016/j.jped.2014.08.004

Cited by 21 publications

(6 citation statements)

References 69 publications

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“…33 Mutations in factor V Leiden, prothrombin (c.G20210A), methylenetetrahydrofolate reductase (c.C677T and c.A1298C), protein C, protein S, antithrombin, and lipoprotein A may lead to a prothrombotic state. 34 Further multicentre studies with defined groups and larger numbers will be required to clarify the role of these polymorphisms in CP. 34 Further multicentre studies with defined groups and larger numbers will be required to clarify the role of these polymorphisms in CP.…”

Section: Apoementioning

confidence: 99%

“…Although such prothrombotic variants could increase the risk of perinatal stroke and therefore CP, a recent systematic review indicated that the link between thrombophilias and CP was modest. 34,35 Osteopontin Osteopontin is a widely expressed soluble immune factor that has been shown to promote axonal regrowth and synaptogenesis after injury. 34,35 Osteopontin Osteopontin is a widely expressed soluble immune factor that has been shown to promote axonal regrowth and synaptogenesis after injury.…”

Section: Apoementioning

confidence: 99%

“…34 Further multicentre studies with defined groups and larger numbers will be required to clarify the role of these polymorphisms in CP. 34,35 Osteopontin Osteopontin is a widely expressed soluble immune factor that has been shown to promote axonal regrowth and synaptogenesis after injury. 36 A recent association study found that the single-nucleotide polymorphism rs1126616 was associated with CP in a sample of more than 700 Chinese patients.…”

Section: Thrombophiliasmentioning

confidence: 99%

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The genetic basis of cerebral palsy

Fahey

MacLennan

Kretzschmar

et al. 2017

Develop Med Child Neuro

141

117

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Although prematurity and hypoxic-ischaemic injury are well-recognized contributors to the pathogenesis of cerebral palsy (CP), as many as one-third of children with CP may lack traditional risk factors. For many of these children, a genetic basis to their condition is suspected. Recent findings have implicated copy number variants and mutations in single genes in children with CP. Current studies are limited by relatively small patient numbers, the underlying genetic heterogeneity identified, and the paucity of validation studies that have been performed. However, several genes mapping to intersecting pathways controlling neurodevelopment and neuronal connectivity have been identified. Analogous to other neurodevelopmental disorders such as autism and intellectual disability, the genomic architecture of CP is likely to be highly complex. Although we are just beginning to understand genetic contributions to CP, new insights are anticipated to serve as a unique window into the neurobiology of CP and suggest new targets for intervention.

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Section: Apoementioning

confidence: 99%

Section: Apoementioning

confidence: 99%

Section: Thrombophiliasmentioning

confidence: 99%

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The genetic basis of cerebral palsy

Fahey

MacLennan

Kretzschmar

et al. 2017

Develop Med Child Neuro

141

117

View full text Add to dashboard Cite

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“…В результате данной мутации развивается резистентность к активированному протеину С, что приводит к тромбозам. Наряду с мутацией Лейдена мутация в гене протромбина (G20210А) является клинически значимой, так же как и полиморфизмы в генах естественных антикоагулянтов -антитромбина III и протеинов С, S. Известно, что наличие двух и более мутаций в генах коагуляционного каскада может являться предиктором инсульта у детей [20,21]. Дефицит белков противосвертывающей системы может быть как врожденным, так и приобретенным.…”

Section: обоснованиеunclassified

Modern Aspects of Anticoagulation System Disorders Diagnosis in Children with Different Polymorphisms in Coagulation Genes. Initial Results

et al. 2022

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Background. Hemostatic system pathology is topical and poorly studied issue in pediatrics. One of the main causes of coagulation pathway disorders associated with thrombotic events is abnormality in various parts of the hemostatic system. Vascular accidents are commonly caused by anticoagulation system factors deficiency. Conventionally, thrombosis is a common event in adult patients, and there is no adequate attention to disorders of primary physiological anticoagulants system in children. More often acquired anticoagulant proteins deficiency develops in presence of various pathological conditions, especially after the past infectious diseases. All these diseases (thrombophilia, trombotic events, cardiovascular pathology, nervous system diseases, genetic diseases) can occur separately and in association with each other, plus clinical picture of coagulation events may be similar. Objective. The aim of the study is to evaluate changes in the physiological anticoagulants system in children with different pathologies who have polymorphic variants in coagulation genes and who had new coronavirus infection. Methods. The study included 33 children who had severe coronavirus infection in family clusters and had severe chronic pathology potentially associated with disorders of the coagulation system (nervous system damage, hypertrophic cardiomyopathy, hereditary monogenic syndromes, hemato-mesenchymal dysplasia syndrome). All children underwent complete examination including clinical examination, laboratory, and instrumental diagnostics. Results. Preliminary study results indicate significant incidence of polymorphic variants in coagulation genes (one third of children with various diseases from the study). Some children had decreased activity of anticoagulation system glycoproteins (from 6% to 36%) that confirmed the topicality of the examination of anticoagulation system factors deficiency and the need for further dynamic follow-up, as well as revealing of trombophilia predictors in children in selected target groups. Study on revealing anticoagulation system disorders and mutations in coagulation genes will predict the risk of thrombotic disorders. Conclusion. The obtained results have confirmed the significant role of the ongoing study for comprehensive assessment of hemostatic system disorders in children. That will allow us to optimize the approach to diagnosis and personalize the management strategy for patients with different chronic pathologies and disorders of the natural anticoagulants system. The study is currently ongoing.

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“…2 Current knowledge of the risk in the CP population related to orthopaedic surgical procedures is very minimal and is mostly limited to reports of complications, such as 1 case of thrombosis from a series of 11 total hip replacements in adults 4 and 1 case from a report of 20 salvage hip surgeries. 5 There are many reports linking cerebral thrombosis as an etiology of CP, 6 and there are many congenital hpyercoagulopathies, such as Factor V Leiden, that are associated with hypercoagulopathies as an etiology of CP. 7 This suggests that children with CP, especially those who are immobile in a wheelchair or in bed after surgery, might have multiple risk factors for postoperative thrombosis.…”

mentioning

confidence: 99%

Incidence of Deep Vein Thrombosis in Cerebral Palsy Following an Orthopaedic Surgical Event

Sees

Maguire

Prestowitz

et al. 2022

Journal of Pediatric Orthopaedics

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The purpose of this study was to identify the incidence of venous thromboembolism (VTE) and characterize the demographics, comorbidities, and risk factors for patients with cerebral palsy (CP) having orthopaedic surgery. Methods: All patients diagnosed with CP who underwent an orthopaedic surgical procedure at one institution between 2008 and 2017 were identified. Diagnosis codes and associated patient events were recovered from the electronic medical record. Each VTE event was reviewed to ascertain an actual VTE episode related to a surgical event.Results: The review included 2583 orthopaedic surgical events in 1371 patients. Of the initial 88 cases identified, 28 cases had a deep thrombosis documented. Six cases of VTE occurred within 3 months following the surgical event. Three of these cases had thigh thrombosis, and 2 patients had upper arm thrombosis, and 1 patient had a superior vena cava thrombosis. On further workup, 5 of these 6 patients were identified as having a congenital hypercoagulable condition. Conclusions: VTE is a relatively rare occurrence after orthopaedic surgery in pediatric patients with CP, but when it occurs, a full hematologic workup for a congenital hypercoagulable condition is indicated. Based on the low incidence of thigh thrombosis, routine pharmacological or intermittent mechanical calf compression is not recommended. A careful clinical and family history should be performed to identify patients with possible genetic hypercoagulable conditions who would merit prophylaxis. Level of Evidence: Level IV.

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Systematic review: hereditary thrombophilia associated to pediatric strokes and cerebral palsy

Cited by 21 publications

References 69 publications

The genetic basis of cerebral palsy

The genetic basis of cerebral palsy

Modern Aspects of Anticoagulation System Disorders Diagnosis in Children with Different Polymorphisms in Coagulation Genes. Initial Results

Incidence of Deep Vein Thrombosis in Cerebral Palsy Following an Orthopaedic Surgical Event

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