The Prospective Natural History Study of Patients with Intractable Venous Malformation and Klippel-Trenaunay Syndrome to Guide Designing a Proof-of-Concept Clinical Trial for Novel Therapeutic Intervention

Article Oncology

Repurposing alpelisib, an anti-cancer drug, for the treatment of severe TIE2-mutated venous malformations: Preliminary pharmacokinetics and pharmacodynamic data

Amandine Remy et al.

Summary: Venous malformations severely impact patients' quality of life, and novel therapies are urgently needed for treatment-resistant cases. Treating patients with TIE-2 receptor mutations with alpelisib can effectively improve pain, gait, and coagulopathy, with individualized dosing guided by therapeutic drug monitoring.

PEDIATRIC BLOOD & CANCER (2022)

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Review Radiology, Nuclear Medicine & Medical Imaging

Syndromic vascular malformations related to the PIK3CA and RAS pathways: A clinical and imaging review

Yuko Tsujioka et al.

Summary: Vascular malformations are a complex group of disorders that can enlarge over time, impacting quality of life and posing a risk of fatality. Gene mutations responsible for vascular anomalies have been identified, and molecular agents targeting these mutations are currently being developed. Diagnostic imaging findings can guide genetic testing and enable specific diagnosis.

CLINICAL IMAGING (2022)

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Article Health Care Sciences & Services

Reliability and validity of the Japanese version of the Pediatric Quality of Life Inventory Infant Scales

Iori Sato et al.

Summary: This study determined the feasibility, reliability, and validity of the Japanese version of the PedsQL-I (Infant Scales). The results showed that the PedsQL-I is suitable for assessing health-related quality of life in infants aged 1-24 months.

JOURNAL OF PATIENT-REPORTED OUTCOMES (2022)

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Review Genetics & Heredity

A review of mechanisms of disease across PIK3CA-related disorders with vascular manifestations

Guillaume Canaud et al.

Summary: PIK3CA-related disorders encompass a range of conditions involving overgrowth and vascular malformations caused by mutations in the PIK3CA gene. Diagnosis can be challenging due to overlapping phenotypes, and treatment response is typically assessed through clinical improvement, radiological response, and patient-reported outcomes. Current therapeutic options include the mTOR inhibitor sirolimus, but other agents targeting the PI3K pathway are under investigation. Management of these disorders requires a multidisciplinary approach, and ongoing clinical studies will provide further insights into treatment options.

ORPHANET JOURNAL OF RARE DISEASES (2021)

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Article Radiology, Nuclear Medicine & Medical Imaging

Management of Venous Malformations

Michael Acord et al.

Summary: Venous malformations are slow-flow, congenital vascular anomalies that require a multidisciplinary approach for comprehensive care. Treatment can be challenging, and various techniques need to be considered to minimize adverse events and achieve expected outcomes.

SEMINARS IN INTERVENTIONAL RADIOLOGY (2021)

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Article Genetics & Heredity