Adrienne M. Hammill
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View article: Safety findings from the phase 1/2 MOSAIC study of miransertib for patients with PIK3CA-related overgrowth spectrum or Proteus syndrome
Safety findings from the phase 1/2 MOSAIC study of miransertib for patients with PIK3CA-related overgrowth spectrum or Proteus syndrome Open
Background PIK3CA -related overgrowth spectrum (PROS) and Proteus syndrome are associated with mosaic tissue overgrowth of varying severity that commonly presents in childhood. The multicenter, open-label, phase 1/2 MOSAIC study (NCT030948…
View article: Standardization of Terminology, Definitions, and Outcome Criteria for Bleeding in Hereditary Hemorrhagic Telangiectasia: International Consensus Report
Standardization of Terminology, Definitions, and Outcome Criteria for Bleeding in Hereditary Hemorrhagic Telangiectasia: International Consensus Report Open
Hereditary hemorrhagic telangiectasia (HHT, Osler‐Weber‐Rendu disease) is the second most common inherited bleeding disorder worldwide, affecting approximately 1 in 5000 people. Development of disease‐modifying and efficacious hemostatic a…
View article: Longitudinal prospective study of Sturge–Weber syndrome urine angiogenic factors and neurological outcome
Longitudinal prospective study of Sturge–Weber syndrome urine angiogenic factors and neurological outcome Open
Objective This study identified biomarkers of neurological outcome in Sturge‐Weber syndrome (SWS) via urine angiogenic factors and captured longitudinally derived natural history data within an SWS cohort. Methods This longitudinal, prospe…
View article: Current Practice: Rationale for Screening Children with Hereditary Hemorrhagic Telangiectasia for Brain Vascular Malformations
Current Practice: Rationale for Screening Children with Hereditary Hemorrhagic Telangiectasia for Brain Vascular Malformations Open
In this article, a multidisciplinary group of experts on hereditary hemorrhagic telangiectasia reviewed data that support screening guidelines and counter arguments against screening. Children with hereditary hemorrhagic telangiectasia hav…
View article: Capillary malformations
Capillary malformations Open
Capillary malformation (CM), or port wine birthmark, is a cutaneous congenital vascular anomaly that occurs in 0.1%-2% of newborns. Patients with a CM localized on the forehead have an increased risk of developing a neurocutaneous disorder…
View article: De Novo Brain Vascular Malformations in Hereditary Hemorrhagic Telangiectasia
De Novo Brain Vascular Malformations in Hereditary Hemorrhagic Telangiectasia Open
View article: Executive summary of the 14th HHT international scientific conference
Executive summary of the 14th HHT international scientific conference Open
View article: Practice variations in managing infantile hemangiomas
Practice variations in managing infantile hemangiomas Open
Background Infantile hemangioma (IH) is the most common benign tumor of infancy. For children with IH who require treatment, propranolol and other beta blockers have been shown to be safe and effective. Although consensus guidelines for pr…
View article: RAND/UCLA Modified Delphi Panel on the Severity, Testing, and Medical Management of PIK3CA-Related Spectrum Disorders (PROS)
RAND/UCLA Modified Delphi Panel on the Severity, Testing, and Medical Management of PIK3CA-Related Spectrum Disorders (PROS) Open
Objective(s): PIK3CA-related overgrowth spectrum (PROS) is a group of disorders caused by somatic variants in the PIK3CA gene. We aimed to update recommendations on the severity classification, testing, and medical management of patients w…
View article: Barriers to Genetic Testing in Vascular Malformations
Barriers to Genetic Testing in Vascular Malformations Open
Importance Vascular malformations (VMs) are rare disorders of vasculogenesis associated with substantial morbidity. Improved understanding of their genetic basis is increasingly guiding management, but logistical barriers to obtaining gene…
View article: Kaposiform lymphangiomatosis: Diagnosis, pathogenesis, and treatment
Kaposiform lymphangiomatosis: Diagnosis, pathogenesis, and treatment Open
Kaposiform lymphangiomatosis (KLA) is a life‐threatening rare disease that can cause substantial morbidity, mortality, and social burdens for patients and their families. Diagnosis often occurs long after initial symptoms, and there are fe…
View article: Response to sirolimus in capillary lymphatic venous malformations and associated syndromes: Impact on symptomatology, quality of life, and radiographic response
Response to sirolimus in capillary lymphatic venous malformations and associated syndromes: Impact on symptomatology, quality of life, and radiographic response Open
Background Capillary lymphatic venous malformations (CLVM) and associated syndromes, including Klippel–Trenaunay syndrome (KTS) and congenital lipomatous overgrowth, vascular malformation, epidermal nevi, skeletal, and spinal syndrome (CLO…
View article: Intra-abdominal Lymphatic Malformations: A Case Series
Intra-abdominal Lymphatic Malformations: A Case Series Open
Background: Intra-abdominal lymphatic malformations are rare entities without a clear consensus on management or prognosis. These malformations are medically and surgically complex and often require a sophisticated, multi-disciplinary appr…
View article: Phosphorylated-S6 Expression in Sturge-Weber Syndrome Brain Tissue
Phosphorylated-S6 Expression in Sturge-Weber Syndrome Brain Tissue Open
Background: Sturge-Weber Syndrome (SWS) is a rare neurovascular disorder associated with port-wine birthmarks, glaucoma, and abnormal leptomeningeal blood vessels. It is most commonly caused by a R183Q somatic mutation in GNAQ predicted to…
View article: Forward: Welcome to the Special Issue on Vascular Anomalies
Forward: Welcome to the Special Issue on Vascular Anomalies Open
Welcome to the Special Issue on Vascular Anomalies It is timely and exciting that Pediatric Blood and Cancer has endorsed a supplement dedicated to vascular anomalies. Vascular anomalies are not new diseases. However, this generation of ph…
View article: eP250: Molecular findings in patients with atypical Sturge-Weber syndrome
eP250: Molecular findings in patients with atypical Sturge-Weber syndrome Open
View article: Hereditary hemorrhagic telangiectasia (HHT): a practical guide to management
Hereditary hemorrhagic telangiectasia (HHT): a practical guide to management Open
Hereditary hemorrhagic telangiectasia (HHT), the second most common inherited bleeding disorder, is associated with the development of malformed blood vessels. Abnormal blood vessels may be small and cutaneous or mucosal (telangiectasia), …
View article: A review of mechanisms of disease across PIK3CA-related disorders with vascular manifestations
A review of mechanisms of disease across PIK3CA-related disorders with vascular manifestations Open
View article: Case Report: Cerebral Revascularization in a Child With Mucopolysaccharidosis Type I
Case Report: Cerebral Revascularization in a Child With Mucopolysaccharidosis Type I Open
Mucopolysaccharidosis (MPS) type I is a rare lysosomal storage disorder caused by an accumulation of glycosaminoglycans (GAGs) resulting in multisystem disease. Neurological morbidity includes hydrocephalus, spinal cord compression, and co…
View article: Multicenter Research Data of Epilepsy Management in Patients With Sturge-Weber Syndrome
Multicenter Research Data of Epilepsy Management in Patients With Sturge-Weber Syndrome Open
View article: Sirolimus Treatment in Sturge-Weber Syndrome
Sirolimus Treatment in Sturge-Weber Syndrome Open
View article: Introduction from the VA SIG Leadership
Introduction from the VA SIG Leadership Open
View article: Overgrowth syndromes and new therapies
Overgrowth syndromes and new therapies Open
View article: Clinicopathologic Conference: A Four‐Year‐Old Child With Digital Clubbing
Clinicopathologic Conference: A Four‐Year‐Old Child With Digital Clubbing Open
A four-year-old female presented to our pediatric rheumatology clinic with the chief symptom of periodic fevers and abdominal pain. The patient’s fevers began 4 months prior to presentation following a documented streptococcal pharyngeal i…
View article: Constitutively active PIK3CA mutations are expressed by lymphatic and vascular endothelial cells in capillary lymphatic venous malformation
Constitutively active PIK3CA mutations are expressed by lymphatic and vascular endothelial cells in capillary lymphatic venous malformation Open
View article: Profound Iron Deficiency Anemia and Irreversible Dilated Cardiomyopathy in a Child
Profound Iron Deficiency Anemia and Irreversible Dilated Cardiomyopathy in a Child Open
Iron deficiency anemia has been associated with a secondary and potentially reversible cardiomyopathy. The pathophysiologic paradigm has been that the hematologic disease begets cardiac dysfunction. There may be, however, a point at which …
View article: Signaling pathways and inhibitors of cells from patients with kaposiform lymphangiomatosis
Signaling pathways and inhibitors of cells from patients with kaposiform lymphangiomatosis Open
Background Kaposiform lymphangiomatosis (KLA) is a rare lymphatic anomaly with significant morbidity and mortality. KLA is characterized by diffuse multifocal lesions comprised of focal areas of “kaposiform” spindled cells accompanying mal…
View article: Quality of Life in Children With Sturge-Weber Syndrome
Quality of Life in Children With Sturge-Weber Syndrome Open
View article: Efficacy of systemic sirolimus in the treatment of generalized lymphatic anomaly and Gorham–Stout disease
Efficacy of systemic sirolimus in the treatment of generalized lymphatic anomaly and Gorham–Stout disease Open
Background Generalized lymphatic anomaly (GLA) and Gorham–Stout disease (GSD) are rare complicated lymphatic malformations that occur in multiple body sites and are associated with significant morbidity and mortality. Treatment options hav…
View article: Physical and Family History Variables Associated With Neurological and Cognitive Development in Sturge-Weber Syndrome
Physical and Family History Variables Associated With Neurological and Cognitive Development in Sturge-Weber Syndrome Open