scholarly journals Cavernous malformations of the brain and modern views on their treatment

2021 ◽  
Vol 2 (2) ◽  
pp. 200-210
Author(s):  
Elena N. Girya ◽  
Valentin V. Sinitsyn ◽  
Alexey S. Tokarev
Keyword(s):  
Radiation Therapy ◽  
Proton Therapy ◽  
Clinical Manifestations ◽  
Alternative Methods ◽  
Cerebral Cavernous Malformations ◽  
Cavernous Malformations ◽  
Modern Methods ◽  
Benign Nature ◽  
The Brain ◽  
Methods Of Treatment

Cavernous malformations of the brain have become an increasingly common pathology in recent years, thanks to the advancement of modern methods of neuroimaging. Despite the benign nature of the course in most cases, these formations can cause convulsions and serious neurological disorders. Typically, clinical manifestations are caused by hemorrhages in the structure of the cavernous and surrounding parenchyma of the brain. The management strategy chosen for patients with cerebral cavernous malformations is determined by the type of malformation, its size, localization, the presence of repeated hemorrhages, and the clinical picture. This literature review focuses on modern methods of treating cerebral cavernous malformations. The main methods of treatment for cavernous malformations of the brain, particularly surgical treatment, have been analyzed. If surgical intervention is not possible, alternative methods of treatment include radiation therapy, such as stereotaxic radiosurgery, and proton therapy, in cases of deep location of foci in functionally significant areas of the brain, which are characterized by the highest risk of complications. Thе possibilities, efficacy, and safety of stereotactic radiosurgical treatment are discussed, as well as the use of proton therapy in the treatment of cavernous malformations. Furthermore, radiation therapy has been shown to be beneficial for cavernous malformations.

scholarly journals MODERN EFFECTIVE TREATMENT OF BRAIN METASTASES OF SKIN MELANOMA. THE EXAMPLE OF CLINICAL OBSERVATION

2021 ◽  
Vol 20 (2) ◽  
pp. 53-60
Author(s):  
M. I. Kurzhupov ◽  
A. V. Shabunin ◽  
K. S. Titov ◽  
E. L. Slobina ◽  
D. N. Grekov
Keyword(s):  
Radiation Therapy ◽  
Targeted Therapy ◽  
Brain Metastases ◽  
Anticancer Therapy ◽  
Skin Melanoma ◽  
Term Survival ◽  
Modern Methods ◽  
Neurosurgical Treatment ◽  
The Brain ◽  
Methods Of Treatment

Introduction. Melanoma of the skin has the highest potential for metastasis to the brain, ranking 15th in the frequency of occurrence among all malignant tumors – it is in third place in the incidence of intracerebral metastases. Modern methods of treatment of metastases of skin melanoma to the brain include neurosurgical treatment, radiation therapy and radiosurgery, antitumor drug therapy, including targeted therapy, immunotherapy and chemotherapy. The article discusses the indications for different methods of treatment, provides data on patient survival when using these methods of treatment alone or in combination. Additionally, a clinical case of long-term survival of a patient with skin melanoma with progression in the form of extra- and intracranial metastasis is discussed.Purpose. Evaluation of the result of using modern methods of antitumor treatment in real clinical practice in a patient with skin melanoma metastases in the brain. Materials and methods. On a clinical example, a possible sequence of an individual approach to the treatment of a patient with extracranial and intracerebral metastases of skin melanoma based on modern methods of treatment and examination is considered.Results. The use of modern methods of anticancer therapy has increased the overall survival and disease-free survival of patients with metastases of skin melanoma to the brain and reduces the need for neurosurgical interventions. As a confirmation of this, the life expectancy of the patient after the progression of skin melanoma in the form of metastases to the brain against the background of all the antitumor treatment carried out to date was 5.5 years, while neurosurgical treatment was not carried out at the request of the patient, although it was shown, but were used the possibilities of modern anticancer therapy, including sequential radiation therapy, targeted therapy and immunotherapy.Conclusion. Modern methods of anticancer therapy can significantly increase the survival rate of patients with melanoma brain metastases and individualize the treatment plan.

scholarly journals Management of Cerebral Cavernous Malformations: From Diagnosis to Treatment

2015 ◽  
Vol 2015 ◽  
pp. 1-8 ◽  
Author(s):  
Nikolaos Mouchtouris ◽  
Nohra Chalouhi ◽  
Ameet Chitale ◽  
Robert M. Starke ◽  
Stavropoula I. Tjoumakaris ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
Vascular Malformations ◽  
Imaging Techniques ◽  
Neurological Deficits ◽  
Cerebral Cavernous Malformations ◽  
Cavernous Malformations ◽  
Microsurgical Resection ◽  
Different Characteristics ◽  
The Brain ◽  
Methods Of Treatment

Cerebral cavernous malformations are the most common vascular malformations and can be found in many locations in the brain. If left untreated, cavernomas may lead to intracerebral hemorrhage, seizures, focal neurological deficits, or headaches. As they are angiographically occult, their diagnosis relies on various MR imaging techniques, which detect different characteristics of the lesions as well as aiding in planning the surgical treatment. The clinical presentation and the location of the lesion are the most important factors involved in determining the optimal course of treatment of cavernomas. We concisely review the literature and discuss the advantages and limitations of each of the three available methods of treatment—microsurgical resection, stereotactic radiosurgery, and conservative management—depending on the lesion characteristics.

Modern methods of treating rosacea

2019 ◽  
Vol 1 (7) ◽  
pp. 65-71
Author(s):  
O. A. Egorova ◽  
K. A. Novikov
Keyword(s):  
Clinical Manifestations ◽  
Treatment Method ◽  
Current Data ◽  
Trigger Factors ◽  
Laser Technology ◽  
Individual Approach ◽  
Modern Methods ◽  
Methods Of Treatment ◽  
Choice Of Therapy

Presented current data on the etiology of rosacea, the main aspects of pathogenesis, clinical forms of the disease. Reflects trigger factors leading to rosacea, as well as complicating its course. Modern methods of treatment are described, including the use of new safe preparations of ivermectin and brimonidine, providing a good, lasting effect of clinical manifestations of rosacea. The role of laser technology, actively occupying a leading place in the choice of physiotherapeutic treatment method, is noted. The need for an individual approach in the choice of therapy for each patient with rosacea is emphasized.

Aeromedical Implications of Cerebral Cavernomas

2021 ◽  
Vol 92 (2) ◽  
pp. 120-123
Author(s):  
Tania Jagathesan ◽  
Michael OBrien
Keyword(s):  
Clinical Presentation ◽  
Clinical Symptoms ◽  
Civil Aviation ◽  
Complication Rates ◽  
Cerebral Cavernous Malformations ◽  
Cavernous Malformations ◽  
Medical Certification ◽  
The Uk ◽  
Age Range ◽  
The Brain

BACKGROUND: Cavernomas, cavernous angiomas, or cerebral cavernous malformations are clusters of endothelium-lined blood vessels usually found in the brain. With the increasing use of radiological imaging, these are being detected incidentally in asymptomatic aircrew. The UK Civil Aviation Authority (CAA) experience of cavernomas is described and the aeromedical concerns, that is, the risk of epilepsy, hemorrhage, and the development of a neurological deficit, are considered.METHODS: A search of the CAA database between 1990 and 2020 was performed for the term cavernoma. The gender, age at diagnosis, class of certification held, clinical presentation, location, and size of the lesion were noted. A PubMed literature review for papers with complications of cavernoma was performed.RESULTS: Six cases of cavernoma have been declared to the CAA: five professional pilots and one private pilot. Five were men and one was a woman. The age range was between 38 and 60 yr, with a mean of 48 yr. Two cases presented with clinical symptoms and four were asymptomatic. Complication rates for seizure and hemorrhage were extracted from the published literature together with the significance of other factors such as cavernoma size, family history, multiplicity, and the development of new lesions.DISCUSSION: A policy for the medical certification of aircrew with cavernomas that have presented with clinical symptoms and those that are detected incidentally is proposed.Jagathesan T, OBrien M. Aeromedical implications of cerebral cavernomas. Aerosp Med Hum Perform. 2021; 92(2):120123.

scholarly journals Mural Cell-Specific Deletion of Cerebral Cavernous Malformation 3 in the Brain Induces Cerebral Cavernous Malformations

2020 ◽  
Vol 40 (9) ◽  
pp. 2171-2186
Author(s):  
Kang Wang ◽  
Haifeng Zhang ◽  
Yun He ◽  
Quan Jiang ◽  
Yoshiaki Tanaka ◽  
...  
Keyword(s):  
Endothelial Cell ◽  
Adhesion Formation ◽  
Single Layer ◽  
Cerebral Cavernous Malformations ◽  
Mural Cell ◽  
Cavernous Malformations ◽  
Mural Cells ◽  
Brain Pericytes ◽  
The Brain ◽  
Specific Deletion

Objective: Cerebral cavernous malformations (CCM), consisting of dilated capillary channels formed by a single layer of endothelial cells lacking surrounding mural cells. It is unclear why CCM lesions are primarily confined to brain vasculature, although the 3 CCM-associated genes ( CCM1 , CCM2 , and CCM3 ) are ubiquitously expressed in all tissues. We aimed to determine the role of CCM gene in brain mural cell in CCM pathogenesis. Approach and Results: SM22α -Cre was used to drive a specific deletion of Ccm3 in mural cells, including pericytes and smooth muscle cells (Ccm3smKO). Ccm3smKO mice developed CCM lesions in the brain with onset at neonatal stages. One-third of Ccm3smKO mice survived upto 6 weeks of age, exhibiting seizures, and severe brain hemorrhage. The early CCM lesions in Ccm3smKO neonates were loosely wrapped by mural cells, and adult Ccm3smKO mice had clustered and enlarged capillary channels (caverns) formed by a single layer of endothelium lacking mural cell coverage. Importantly, CCM lesions throughout the entire brain in Ccm3smKO mice, which more accurately mimicked human disease than the current endothelial cell-specific CCM3 deletion models. Mechanistically, CCM3 loss in brain pericytes dramatically increased paxillin stability and focal adhesion formation, enhancing ITG-β1 (integrin β1) activity and extracellular matrix adhesion but reducing cell migration and endothelial cell-pericyte associations. Moreover, CCM3-wild type, but not a paxillin-binding defective mutant, rescued the phenotypes in CCM3-deficient pericytes. Conclusions: Our data demonstrate for the first time that deletion of a CCM gene in the brain mural cell induces CCM pathogenesis.

Oligoclonal immune response in cerebral cavernous malformations

2007 ◽  
Vol 107 (5) ◽  
pp. 1023-1026 ◽  
Author(s):  
Changbin Shi ◽  
Robert Shenkar ◽  
H. Hunt Batjer ◽  
Irene J. Check ◽  
Issam A. Awad
Keyword(s):  
Immune Response ◽  
B Cells ◽  
Isoelectric Focusing ◽  
Clinical Manifestations ◽  
Normal Brain ◽  
Cerebral Cavernous Malformations ◽  
Blood Contamination ◽  
Cavernous Malformations ◽  
Control Brain ◽  
Potential Marker

Object Mechanisms of cerebral cavernous malformation (CCM) pathogenesis include genetic predisposition in some cases, but other factors are likely to be involved in lesion proliferation and clinical manifestations. Given the unique antigenic milieu of CCMs, there may be a characteristic immune response in these lesions. We hypothesize that the immunoglobulin (Ig) fraction in CCMs reflects an oligoclonal immune response not present in paired sera from the same patients or in other types of cerebrovascular malformations. Methods Surgically excised lesions from five patients with CCMs, three patients with arteriovenous malformations (AVMs), and four normal brain control specimens obtained at autopsy were homogenized and extract tested for IgG clonality by isoelectric focusing in parallel with each patient's serum. Results The authors detected B cells in all three lesions examined, and plasmacytes in two out of three lesions examined. Four of five extracts of homogenized CCMs showed an oligoclonal pattern of IgG distinct from the polyclonal pattern seen in those patients' sera. Immununoglobulin G oligoclonality was not seen in AVMs or control brain specimens. Conclusions The results of isoelectric focusing studies showed that CCM lesions had oligoclonal patterns of IgG unrelated to peripheral blood contamination, indicating selective synthesis of IgG within the lesions. This finding probably reflects a clonal expansion of B cells and/or plasmacytes in CCMs, an event that might be antigen-driven or a potential marker of inflammation.

scholarly journals Congenital epidermolysis bullosa: modern methods of diagnosis and therapy. Prospects for regenerative medicine

2020 ◽  
Vol 96 (1) ◽  
pp. 10-17
Author(s):  
Alexey A. Kubanov ◽  
Arfenya E. Karamova ◽  
Ekaterina S. Monchakovskaya
Keyword(s):  
Quality Of Life ◽  
Epidermolysis Bullosa ◽  
Skin Diseases ◽  
Clinical Manifestations ◽  
Mechanical Effect ◽  
Promising Direction ◽  
Heterogenous Group ◽  
Modern Methods ◽  
Methods Of Treatment

Congenital epidermolysis bullosa is a clinically and genetically heterogenous group of hereditary skin diseases characterized by the formation of bullae and/or erosions in response to insignificant mechanical effect. The variety and severity of clinical manifestations of the disease determine the early disablement of patients and the decrease in the quality of life, which requires the development of pathogenetic and etiological methods of treatment. Methods of gene therapy are the most promising direction to study, since they can affect the cause of congenital epidermolysis bullosa.

scholarly journals Genetic Genealogy Uncovers a Founder Deletion Mutation in the Cerebral Cavernous Malformations 2 Gene

2021 ◽  
Author(s):  
Carol J Gallione ◽  
Matthew R Detter ◽  
Henrietta M Christmas ◽  
Cornelia Lee ◽  
Douglas A Marchuk
Keyword(s):  
Vascular Malformations ◽  
Cerebral Cavernous Malformations ◽  
Autosomal Dominant Trait ◽  
Cavernous Malformations ◽  
North American Continent ◽  
The North ◽  
Genealogical Data ◽  
The Brain ◽  
Recombination Junction ◽  
Pair Level

Abstract Cerebral cavernous malformations (CCM) are vascular malformations consisting of collections of enlarged capillaries occurring in the brain or spinal cord. These vascular malformations can occur sporadically or susceptibility to develop these can be inherited as an autosomal dominant trait due to mutation in one of three genes. Over a decade ago, we described a 77.6 Kb germline deletion spanning exons 2-10 in the CCM2 gene found in multiple affected individuals from seemingly unrelated families. Segregation analysis using linked, microsatellite markers indicated that this deletion may have arisen at least twice independently. In the ensuing decades, many more CCM patients have been identified with this deletion. In this present study we examined 27 reportedly unrelated affected individuals with this deletion. To investigate the origin of the deletion at base pair level resolution, we sequenced approximately 10 Kb upstream and downstream from the recombination junction on the deleted allele. All patients showed the identical SNP haplotype across this combined 20 Kb interval. In parallel, genealogical records have traced 11 of these individuals to five separate pedigrees dating as far back as the 1600-1700’s. These haplotype and genealogical data suggest that these families and the remaining “unrelated” samples converge on a common ancestor due to a founder mutation occurring centuries ago on the North American continent. We also note that another gene, NACAD, is included in this deletion. Although patient self-reporting does not indicate an apparent phenotypic consequence for heterozygous deletion of NACAD, further investigation is warranted for these patients.

Effective surgical treatment of cerebral cavernous malformations: a multicenter study of 79 pediatric patients

2011 ◽  
Vol 8 (5) ◽  
pp. 522-525 ◽  
Author(s):  
Michael Hugelshofer ◽  
Nicola Acciarri ◽  
Ulrich Sure ◽  
Dimitrios Georgiadis ◽  
Ralf W. Baumgartner ◽  
...  
Keyword(s):  
Pediatric Patients ◽  
Refractory Epilepsy ◽  
Epileptic Seizures ◽  
Neurological Deficits ◽  
Vascular Lesions ◽  
Cerebral Cavernous Malformations ◽  
Cavernous Malformations ◽  
Persistent Symptoms ◽  
The Mean ◽  
The Brain

Object Cerebral cavernous malformations (CCMs) are common vascular lesions in the brain, affecting approximately 0.5% of the population and representing 10%–20% of all cerebral vascular lesions. One-quarter of all CCMs affect pediatric patients, and CCMs are reported as one of the main causes of brain hemorrhage in this age group. Symptoms include epileptic seizures, headache, and focal neurological deficits. Patients with symptomatic CCMs can be treated either conservatively or with resection if lesions cause medically refractory epilepsy or other persistent symptoms. Methods The authors retrospectively analyzed 79 pediatric patients (41 boys and 38 girls) from 3 different centers, who were surgically treated for their symptomatic CCMs between 1974 and 2004. The mean age of the children at first manifestation was 9.7 years, and the mean age at operation was 11.3 years. The main goal was to compare the clinical outcomes with respect to the location of the lesion of children who preoperatively suffered from epileptic seizures. Results Of these patients, 77.3% were seizure free (Engel Class I) after the resection of the CCM. Significant differences in the outcome between children who harbored CCMs at different locations were not found. Conclusions Resection seems to be the favorable treatment of symptomatic CCMs not only in adults but also in children.

scholarly journals Cerebral cavernous malformations and epilepsy

2006 ◽  
Vol 21 (1) ◽  
pp. 1-9 ◽  
Author(s):  
Issam Awad ◽  
Pascal Jabbour
Keyword(s):  
Natural History ◽  
Therapeutic Intervention ◽  
Clinical Manifestations ◽  
Neurological Deficits ◽  
Cerebral Cavernous Malformations ◽  
Cavernous Malformations ◽  
Chronic Epilepsy ◽  
Seizure Disorders ◽  
Similar Lesion ◽  
Clinically Significant

✓Seizures and epilepsy are frequent clinical manifestations of cerebral cavernous malformations (CCMs) and represent the most common symptomatic presentation of supratentorial lesions. Clinicians often diagnose CCMs in patients after a first seizure, or in some cases after obtaining neuroimaging studies in patients suffering from chronic epilepsy previously thought to be idiopathic. In some cases, the lesion is clinically significant solely because of its epileptogenicity, but in others there may be concern about potential hemorrhage or focal neurological deficits from a similar lesion. The authors present current pathophysiological concepts related to epilepsy associated with CCMs. They discuss the spectrum of seizure disorders associated with these lesions and review the natural history, prognosis, and options for therapeutic intervention.

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