Incidence, kinetics, and risk factors for intra- and extracranial cerebral arteriopathies in a newborn sickle cell disease cohort early assessed by transcranial and cervical color Doppler ultrasound

Bernaudin, Françoise; Kamdem, Annie; Hau, Isabelle; Madhi, Fouad; Jung, Camille; Epaud, Ralph; Verlhac, Suzanne

doi:10.3389/fneur.2022.846596

Cited by 4 publications

(1 citation statement)

References 71 publications

(87 reference statements)

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“…В ряде опубликованных работ отмечается сочетание этих причин. Констатируется также и возможная взаимосвязь с более редкими явлениями, в частности, в качестве отдельного патогенетического фактора травматического влияния на стенки деформированной внутренней сонной артерии (ВСА) признается турбу лентный поток крови с нарушенной реологией у детей с серповидно-клеточной анемией (СКА) [5]. При этом авторы предполагают, что СКА может усугублять УСА вследствие травматизации стенок с несостоятельным упругоэластическим каркасом.…”

Section: Carotid Artery Elongation (Carotid Dolichoarteriopathy): Som...unclassified

Carotid artery elongation (carotid dolichoarteriopathy): some features of the structure and hemodynamics

Golovin,

Berdalin,

Kudryavtsev

et al. 2024

Medicinskaâ vizualizaciâ

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The purpose of the study. Multimodal study of the state of the brachiocephalic arteries, with assessment of blood flow in the extra- and intracranial portions of the carotid arteries and brain perfusion, as well as the structure of the brain in patients with different types of elongation of the carotid arteries (ECA).Material and methods. The data of examinations of 79 patients (45 men (57.0%, average age – 61.0 ± 10.1 years) and 34 women (43.0%, 65.3 ± 13.6 years), average age 62.8 ± 11.8 years) during the year after ischemic stroke in posterior circulation were analyzed. ECA was verified by multispiral computed tomographic angiography (msCTA) in 44 patients (55.7% of the total number of cases), the control group was selected by gender and age with “case-control” elements and consisted of 35 (44.3%) patients without a mustache. All underwent msCTA of the thoracic aorta and BCA and CT perfusion examination, magnetic resonance imaging of the brain, duplex scanning of BCA and transcranial duplex scanning, transthoracic echocardiography, transcranial Doppler monitoring with microembolodetection.Results. We have registered intergroup differences, which can be divided into structural and functional. The former include: higher aortic arch location in patients with DCA: ThII – 6.3% vs. 0%, ThIII – 43% vs. 0%; ThIV – 28.1% vs. 62.9%* and ThV 21.9% vs. 37.1% (p < 0.0005); lower values of cervical spine height (114.70 ± 11.03 mm, vs. 120.46 ± 9.75 mm, p = 0.022), greater absolute length of the ICA (on the right – 101.32 ± 14.59 mm vs. 85.06 ± 12.07 mm, p < 0.0005; on the left – 100.00 ± 14.03 mm vs. 84.66 ± 12.63 mm, p < 0.0005). The presence of ECA was associated (p < 0.05) with a higher frequency of vertebral artery elongation. The severity of small vessel disease during MRI in individuals with ECA was slightly higher (not at the trend level, p = 0.076). Functional differences consisted in the registration of lower (p = 0.019) values of the end diastolic velocity in M1 of the middle cerebral arteries. The values of some perfusion indices in the blood supply of elongation arteries were lower than in persons without ECA. There were no cases of registration of microembolic signals in the ECA patients examined by us.Conclusion. In the individuals with ECA we examined, a complex of anatomical and hemodynamic features was determined, which, both individually and collectively, cannot lead to a decrease in the level of blood flow or be a source of arterio-arterial embolism in the carotid system, regardless of the configuration of the ICA.

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Section: Carotid Artery Elongation (Carotid Dolichoarteriopathy): Som...unclassified

Carotid artery elongation (carotid dolichoarteriopathy): some features of the structure and hemodynamics

Golovin,

Berdalin,

Kudryavtsev

et al. 2024

Medicinskaâ vizualizaciâ

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Genetic Variation and Sickle Cell Disease Severity

Kirkham,

Estepp,

Weiss

et al. 2023

JAMA Netw Open

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ImportanceSickle cell disease (SCD) is a monogenic disorder, yet clinical outcomes are influenced by additional genetic factors. Despite decades of research, the genetics of SCD remain poorly understood.ObjectiveTo assess all reported genetic modifiers of SCD, evaluate the design of associated studies, and provide guidelines for future analyses according to modern genetic study recommendations.Data SourcesPubMed, Web of Science, and Scopus were searched through May 16, 2023, identifying 5290 publications.Study SelectionAt least 2 reviewers identified 571 original, peer-reviewed English-language publications reporting genetic modifiers of human SCD phenotypes, wherein the outcome was not treatment response, and the comparison was not between SCD subtypes or including healthy controls.Data Extraction and SynthesisData relevant to all genetic modifiers of SCD were extracted, evaluated, and presented following STREGA and PRISMA guidelines. Weighted z score meta-analyses and pathway analyses were conducted.Main Outcomes and MeasuresOutcomes were aggregated into 25 categories, grouped as acute complications, chronic conditions, hematologic parameters or biomarkers, and general or mixed measures of SCD severity.ResultsThe 571 included studies reported on 29 670 unique individuals (50% ≤ 18 years of age) from 43 countries. Of the 17 757 extracted results (4890 significant) in 1552 genes, 3675 results met the study criteria for meta-analysis: reported phenotype and genotype, association size and direction, variability measure, sample size, and statistical test. Only 173 results for 62 associations could be cross-study combined. The remaining associations could not be aggregated because they were only reported once or methods (eg, study design, reporting practice) and genotype or phenotype definitions were insufficiently harmonized. Gene variants regulating fetal hemoglobin and α-thalassemia (important markers for SCD severity) were frequently identified: 19 single-nucleotide variants in BCL11A, HBS1L-MYB, and HBG2 were significantly associated with fetal hemoglobin (absolute value of Z = 4.00 to 20.66; P = 8.63 × 10−95 to 6.19 × 10−5), and α-thalassemia deletions were significantly associated with increased hemoglobin level and reduced risk of albuminuria, abnormal transcranial Doppler velocity, and stroke (absolute value of Z = 3.43 to 5.16; P = 2.42 × 10−7 to 6.00 × 10−4). However, other associations remain unconfirmed. Pathway analyses of significant genes highlighted the importance of cellular adhesion, inflammation, oxidative and toxic stress, and blood vessel regulation in SCD (23 of the top 25 Gene Ontology pathways involve these processes) and suggested future research areas.Conclusions and RelevanceThe findings of this comprehensive systematic review and meta-analysis of all published genetic modifiers of SCD indicated that implementation of standardized phenotypes, statistical methods, and reporting practices should accelerate discovery and validation of genetic modifiers and development of clinically actionable genetic profiles.

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Limited access to transcranial Doppler screening and stroke prevention for children with sickle cell disease in Europe: Results of a multinational EuroBloodNet survey

Voi,

Gutierrez‐Valle,

Cuzzubbo

et al. 2024

Pediatric Blood & Cancer

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BackgroundEnsuring equitable access to adequate standard of care for patients with rare hematological disease is one of the aims of the European Reference Network (ERN) EuroBloodNet. Stroke is one of the most devastating complications for children with sickle cell disease (SCD). For effective prevention of stroke risk, annual transcranial Doppler (TCD) according to a defined protocol is recommended for patients aged 2–16 years, with red blood cell transfusion therapy for those at risk. There is no information regarding screening for stroke risk and stroke prevention programs in Europe.MethodsSeven SCD experts of five healthcare providers (HCPs) of ERN EuroBloodNet developed an online survey to assess the access to TCD screening and stroke prevention programs for children with SCD in Europe.ResultsEighty‐one experts in 77 HCPs from 16 European countries responded to 16 online questions. Thirty‐two of 77 (51%) HCPs were EuroBloodNet reference centers, and 36% physicians reported not having a dedicated TCD/TCD imaging service for children with SCD. Only 30% of physicians provided estimates that all their patients received annual TCD according to the standard protocol due to lack of trained staff (43%), lack of TCD instruments (11%), refusal of patients due to logistical difficulties (22%), and lack of funds for dedicated staff or equipment (11%).ConclusionsThis multinational European survey provides the first comprehensive picture of access to TCD screening and stroke prevention in European countries. Identifying the potential underlying causes of the lack of effective standardized screening, this survey also addresses possible dedicated actions to cover these needs.

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Incidence, kinetics, and risk factors for intra- and extracranial cerebral arteriopathies in a newborn sickle cell disease cohort early assessed by transcranial and cervical color Doppler ultrasound

Cited by 4 publications

References 71 publications

Carotid artery elongation (carotid dolichoarteriopathy): some features of the structure and hemodynamics

Carotid artery elongation (carotid dolichoarteriopathy): some features of the structure and hemodynamics

Genetic Variation and Sickle Cell Disease Severity

Limited access to transcranial Doppler screening and stroke prevention for children with sickle cell disease in Europe: Results of a multinational EuroBloodNet survey

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