Allison L. Bartlett
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View article: LINE‐1 Retroelement Activation and Neuroinflammation in Persons With Fanconi Anemia
LINE‐1 Retroelement Activation and Neuroinflammation in Persons With Fanconi Anemia Open
We describe the first immunohistochemical analysis performed on brain lesion biopsies from two young individuals with Fanconi anemia neuroinflammatory syndrome (FANS). We identified aberrant activation of the LINE‐1 retrotransposon as a no…
View article: <i>NTRK1</i>-rearranged histiocytosis: clinicopathologic and molecular features
<i>NTRK1</i>-rearranged histiocytosis: clinicopathologic and molecular features Open
Non-Langerhans cell histiocytoses are a diverse group of histiocytic diseases. Different entities are defined based on clinical, histopathologic, and/or molecular characteristics. This study aimed to define NTRK-rearranged histiocytosis. T…
View article: Fanconi anemia neuroinflammatory syndrome: brain lesions and neurologic injury in Fanconi anemia
Fanconi anemia neuroinflammatory syndrome: brain lesions and neurologic injury in Fanconi anemia Open
Fanconi anemia (FA) is a complex inherited bone marrow failure syndrome characterized by chromosomal instability and defective DNA repair, causing sensitivity to DNA interstrand crosslinking agents. Our understanding of the full adult phen…
View article: Dabrafenib and trametinib in Langerhans cell histiocytosis and other histiocytic disorders
Dabrafenib and trametinib in Langerhans cell histiocytosis and other histiocytic disorders Open
Standard treatment for Langerhans Cell Histiocytosis (LCH) is chemotherapy, with high failure rates. Since MAP-kinase activating mutations are found in most cases, BRAF- and MEKinhibitors have been used successfully to treat patients with …
View article: Optimized vitamin D repletion with oral thin film cholecalciferol in patients undergoing stem cell transplant
Optimized vitamin D repletion with oral thin film cholecalciferol in patients undergoing stem cell transplant Open
Vitamin D deficiency is common in childhood, pervasive before and after bone marrow transplant, and is associated with increased incidence of graft-versus-host disease (GVHD) and decreased survival in patients undergoing hematopoietic stem…
View article: Transcriptome analysis in acute gastrointestinal graft-<i>versus</i> host disease reveals a unique signature in children and shared biology with pediatric inflammatory bowel disease
Transcriptome analysis in acute gastrointestinal graft-<i>versus</i> host disease reveals a unique signature in children and shared biology with pediatric inflammatory bowel disease Open
We performed transcriptomic analyses on freshly frozen (n=21) and paraffin-embedded (n=35) gastrointestinal (GI) biopsies from children with and without acute acute GI graft-versus-host disease (GvHD) to study differential gene expressions…
View article: Characteristics of children ≤36 months of age with DIPG: A report from the international DIPG registry
Characteristics of children ≤36 months of age with DIPG: A report from the international DIPG registry Open
Background Children ≤36 months with diffuse intrinsic pontine glioma (DIPG) have increased long-term survival (LTS, overall survival (OS) ≥24 months). Understanding distinguishing characteristics in this population is critical to improving…
View article: Characteristics of patients ≥10 years of age with diffuse intrinsic pontine glioma: a report from the International DIPG/DMG Registry
Characteristics of patients ≥10 years of age with diffuse intrinsic pontine glioma: a report from the International DIPG/DMG Registry Open
Background Diffuse intrinsic pontine gliomas (DIPG) generally occur in young school-age children, although can occur in adolescents and young adults. The purpose of this study was to describe clinical, radiological, pathologic, and molecul…
View article: Tryptophan metabolism is dysregulated in individuals with Fanconi anemia
Tryptophan metabolism is dysregulated in individuals with Fanconi anemia Open
Fanconi anemia (FA) is a complex genetic disorder associated with progressive marrow failure and a strong predisposition to malignancy. FA is associated with metabolic disturbances such as short stature, insulin resistance, thyroid dysfunc…
View article: Additional file 1 of A pilot radiogenomic study of DIPG reveals distinct subgroups with unique clinical trajectories and therapeutic targets
Additional file 1 of A pilot radiogenomic study of DIPG reveals distinct subgroups with unique clinical trajectories and therapeutic targets Open
Additional file 1: Table S1. Summary of baseline (diagnostic) MR imaging characteristics of patients in our cohort (n=25).
View article: Pediatric Acute Gvhd: Transcriptome Analysis of Gastrointestinal Biopsies Reveal a Unique Signature in Pediatric Acute GI Gvhd with Involvement of the ERK Pathway and Similarities with Pediatric Inflammatory Bowel Disease
Pediatric Acute Gvhd: Transcriptome Analysis of Gastrointestinal Biopsies Reveal a Unique Signature in Pediatric Acute GI Gvhd with Involvement of the ERK Pathway and Similarities with Pediatric Inflammatory Bowel Disease Open
IntroductionStudies of target organs at the time of acute graft versus host disease (GVHD) are needed to identify novel inflammatory and regulatory pathways.MethodsWe performed a prospective transcriptome analysis of gastrointestinal (GI) …
View article: Late Effects Following Hematopoietic Stem Cell Transplant with Busulfan-Based Preparative Regimen in Fanconi Anemia
Late Effects Following Hematopoietic Stem Cell Transplant with Busulfan-Based Preparative Regimen in Fanconi Anemia Open
IntroductionOutcomes of hematopoietic stem cell transplant (HSCT) in Fanconi Anemia (FA) have markedly improved with use of low dose cyclophosphamide and fludarabine and the advent of T-cell depleted donor grafts. Most recently, use of bus…
View article: DIPG-70. CLINICAL, RADIOLOGICAL, PATHOLOGICAL AND MOLECULAR CHARACTERISTICS OF CHILDREN <3 YEARS WITH DIFFUSE INTRINSIC PONTINE GLIOMA (DIPG): A REPORT FROM THE INTERNATIONAL DIPG REGISTRY
DIPG-70. CLINICAL, RADIOLOGICAL, PATHOLOGICAL AND MOLECULAR CHARACTERISTICS OF CHILDREN <3 YEARS WITH DIFFUSE INTRINSIC PONTINE GLIOMA (DIPG): A REPORT FROM THE INTERNATIONAL DIPG REGISTRY Open
BACKGROUND: Children <3 years with DIPG are reported to have a higher rate of long-term survival (LTS, overall survival (OS) ≥24 months). In patients <3 years with centrally confirmed DIPG, we compared clinical, radiological, histological …
View article: Gut Inflammation, the Microbiome and Tryptophan/Serotonin Metabolism during Bone Marrow Transplant
Gut Inflammation, the Microbiome and Tryptophan/Serotonin Metabolism during Bone Marrow Transplant Open
Background: Tryptophan is an essential amino acid, necessary for protein synthesis. Tryptophan can be metabolized down one of two pathways to produce serotonin (5-HT) or kynurenine, and the relative activity of the two pathways is driven b…