MARINA VIVERO, M.D.

Plain English
This study examined how certain genetic mutations and signaling pathways affect the permeability of blood vessel cells in capillary malformations (CMs), which are often found in conditions like Sturge-Weber Syndrome. Researchers discovered that cells with a specific mutation (p.R183Q) had higher permeability, meaning they allowed more substances to pass through than normal cells, and this was confirmed in mouse models. By reducing levels of a protein called angiopoietin-2 and using a drug to target certain signaling pathways, they were able to improve the condition of the blood vessel barrier. Who this helps: This research benefits patients with capillary malformations, particularly those affected by Sturge-Weber Syndrome.

Plain English
This study focused on papillary hemangiomas (PH), small growths mostly found on the head and neck of children and some adults. The researchers examined seven samples of PH and found that four had a specific mutation in the GNA11 gene and three had a mutation in the GNAQ gene. These findings are important because they may help explain why some vascular growths have similar characteristics and could lead to better understanding and treatment of these types of lesions. Who this helps: This helps doctors and researchers studying vascular lesions, as well as patients dealing with papillary hemangiomas.

Plain English
This study looked at how well doctors in a health system diagnosed and treated primary hyperparathyroidism (PHPT) in patients with high calcium levels in their blood, known as hypercalcemia. Of the 7,675 patients studied, only 43% had the necessary tests to diagnose PHPT, and among those diagnosed, about 30% were not recognized as having the condition. Ultimately, only 26% of patients who could benefit from surgery actually received it, pointing to significant gaps in treatment opportunities. Who this helps: This research benefits patients with primary hyperparathyroidism by highlighting the need for better diagnosis and treatment options.

Plain English
This study looked at a specific genetic mutation in mice that can cause serious blood vessel problems known as arteriovenous malformations (AVMs). The researchers found that when mice were genetically engineered to express this mutation in their endothelial cells (cells that line blood vessels), it led to severe vascular abnormalities, resulting in early death for some mice. These findings are important because they show that this mutation alone is enough to cause these defects, which helps scientists understand how these malformations develop and could assist in finding treatments. Who this helps: This helps patients with congenital vascular conditions and their doctors by providing a better understanding of the underlying causes and potential treatments.

Plain English
This study used zebrafish to explore the causes of a condition called arteriovenous malformation (AVM), where blood vessels form abnormally, connecting arteries directly to veins. They found that 60% of zebrafish embryos with a specific genetic mutation developed these abnormal connections, while none of the control fish did. Importantly, a drug that inhibits a molecule called MEK reduced the occurrence of these shunts from 84% to 25%, demonstrating its potential as a treatment for this condition. Who this helps: This research benefits patients with arteriovenous malformations and their doctors by providing insights into treatment options.

Plain English
This study looked at how a specific mutation in the MAP2K1 gene affects blood vessel formation in mice, particularly how it leads to arteriovenous malformations (AVM) in various organs. Researchers found that this mutation changed the activity of over 1,600 genes, with some, like COL15A1 and Itgb3, increasing dramatically by 39-fold and 24-fold, respectively. Understanding these changes is crucial because it could lead to new treatments for conditions caused by AVM. Who this helps: This benefits patients with arteriovenous malformations and their doctors.

Plain English
Medical students who assisted with organ procurements reported the experience was meaningful but lacked any formal educational structure. A survey of students who participated over several years found strong interest in surgery and donation but gaps in knowledge and guidance. The authors call for a standardized curriculum to make procurement education consistent and impactful.

Plain English
This study investigated whether DNA from urine could be used to detect specific mutations linked to the CLOVES syndrome, a condition that can cause various growth issues and is associated with Wilms tumors. The researchers found that 35% of CLOVES patients had the mutations in their urine, and in one case, the same mutation was found across the patient's urine and tumor, which suggests the tumor likely developed from these mutant cells. This is important because it shows that urine can be a safe and easy way to identify harmful mutations in people with CLOVES syndrome. Who this helps: This helps patients with CLOVES syndrome and their doctors by providing a non-invasive method to monitor for mutations.

Plain English
This study looked at facial infiltrating lipomatosis (FIL), a condition that causes one side of the face to grow too much, to see if a specific mutation (PIK3CA) was present in different types of tissues. Researchers found the PIK3CA mutation in all the tested tissue types from three patients, with levels ranging from 1.5% to 53%. This matters because it shows that the mutation affects multiple tissue types, which could help explain how the overgrowth occurs during development. Who this helps: Patients with facial infiltrating lipomatosis.

Plain English
This study examined capillary malformations, which are abnormal clusters of blood vessels, to find out which cells carry a specific mutation called GNAQ. Researchers found that in eight patients, the GNAQ mutation was present in 3 to 43 percent of the endothelial cells, which are the cells that line blood vessels, suggesting they play a key role in these malformations. Understanding where this mutation occurs helps us learn more about the underlying causes of capillary malformations, which is important for developing targeted treatments. Who this helps: Patients with capillary malformations.

Plain English
This study examined whether mutations in a specific gene called PIK3CA contribute to various vascular disorders, particularly lymphatic malformations (LM) and Klippel-Trenaunay syndrome (KTS). Researchers found that 94% of patients with LM at Boston Children’s Hospital had PIK3CA mutations, and the same was true for 74% of patients with LM at Seattle Children's Hospital. The presence of these mutations is significant because they offer insight into the underlying causes of these disorders and highlight the need for specialized testing to detect them, even when only a small percentage of cells are affected. Who this helps: This research benefits patients with lymphatic malformations and their healthcare providers by identifying key genetic causes of their conditions.

Plain English
This study investigated verrucous venous malformation (VVM), a type of skin condition caused by abnormal blood vessel growth. Researchers looked for genetic mutations in 10 individuals with VVM and found a specific mutation in a gene called MAP3K3 in 6 of them, showing that it likely contributes to the condition. This finding is important because it improves our understanding of VVM and could lead to better treatments or diagnostics in the future. Who this helps: Patients with verrucous venous malformation.

Plain English
This study looked at a condition called facial infiltrating lipomatosis, which causes abnormal growth on one side of the face. Researchers found that this condition is linked to specific changes (mutations) in a gene called PIK3CA, which were present in all six patients studied. Understanding these mutations is important because it opens the door for using existing cancer treatments that target PIK3CA to help patients with this condition. Who this helps: This helps patients with facial infiltrating lipomatosis.

Plain English
This study looked at a specific hormone receptor that might play a role in the growth of certain blood vessel-related conditions, including infantile hemangiomas (a type of benign tumor in infants) and vascular malformations. Researchers found that all types of these conditions expressed the receptor, with the highest levels seen in rapidly growing infantile hemangiomas (6.0% compared to less than 1% in other types). Understanding this connection is important because it suggests that the hormone might influence how these vascular issues develop, potentially offering new avenues for treatment. Who this helps: This research benefits patients with vascular anomalies and their doctors.

Plain English
This study focused on understanding how specific genes, Spry1 and Spry2, are important for the development of the temporomandibular joint (TMJ), which is essential for jaw function. Researchers found that when both Spry1 and Spry2 were inactivated, it led to overgrowth of TMJ-related muscles and disrupts the development of the glenoid fossa, but it did not affect the formation of the condyle and disc. This matters because it shows that different parts of the TMJ can develop independently, which could influence future treatments for TMJ disorders. Who this helps: Patients with temporomandibular joint disorders.