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Your search keyword '"Anne H. O’Donnell-Luria"' showing total 3 results
Start Over Author "Anne H. O’Donnell-Luria" Journal the journal of pediatrics
3 results on '"Anne H. O’Donnell-Luria"'

1. Genome Sequencing Identifies the Pathogenic Variant Missed by Prior Testing in an Infant with Marfan Syndrome

Author

Monica H. Wojcik, Ronald V. Lacro, Pankaj B. Agrawal, Carly F. Grant, Katherine R. Chao, Katri Thiele, Julia K. Goodrich, Anne H. O’Donnell-Luria, and Wen-Hann Tan

Subjects
musculoskeletal diseases, Marfan syndrome, Male, Fibrillin-1, Gene Dosage, Polymerase Chain Reaction, DNA sequencing, Article, Marfan Syndrome, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Fatal Outcome, 030225 pediatrics, Gene duplication, Medicine, Humans, Exome, 030212 general & internal medicine, Exome sequencing, Early onset, Sanger sequencing, Genetics, business.industry, Genome, Human, Genetic Variation, Infant, Sequence Analysis, DNA, medicine.disease, Phenotype, Pediatrics, Perinatology and Child Health, symbols, business, Fibrillin, Gene Deletion
Abstract

We describe an infant with a phenotype typical of early onset Marfan syndrome whose genetic evaluation, including Sanger sequencing and deletion/duplication testing of FBN1 and exome sequencing, was negative. Ultimately, genome sequencing revealed a deletion missed on prior testing, demonstrating the unique utility of genome sequencing for molecular genetic diagnosis.

Published
2019

2. Megaloblastic Anemia Progressing to Severe Thrombotic Microangiopathy in Patients with Disordered Vitamin B

Author

Dolores, Mullikin, Nishitha, Pillai, Rossana, Sanchez, Anne H, O'Donnell-Luria, Amy, Kritzer, Leyat, Tal, Mohammed, Almannai, Gerard T, Berry, Michael J, Gambello, Hong, Li, Brett, Graham, Lakshmi, Srivaths, Vernon Reid, Sutton, and Amanda, Grimes

Subjects
Male, Hematologic Tests, Anemia, Megaloblastic, Thrombotic Microangiopathies, Infant, Vitamin B 12 Deficiency, Prognosis, Injections, Intramuscular, Risk Assessment, Severity of Illness Index, Failure to Thrive, Early Diagnosis, Treatment Outcome, Child, Preschool, Hydroxocobalamin, Disease Progression, Humans, Blood Transfusion, Blood Chemical Analysis
Abstract

We describe 2 children with cobalamin G disease, a disorder of vitamin B

Published
2018

3. Megaloblastic Anemia Progressing to Severe Thrombotic Microangiopathy in Patients with Disordered Vitamin B12 Metabolism: Case Reports and Literature Review

Author

Leyat Tal, Vernon R. Sutton, Rossana Sanchez, Mohammed Almannai, Dolores Mullikin, Nishitha R. Pillai, Hong Li, Lakshmi Srivaths, Amy Kritzer, Gerard T. Berry, Amanda B. Grimes, Michael J. Gambello, Brett H. Graham, and Anne H. O'Donnell Luria

Subjects
0301 basic medicine, Hyperhomocysteinemia, medicine.medical_specialty, Thrombotic microangiopathy, 030232 urology & nephrology, Disease, Cobalamin, Gastroenterology, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, hemic and lymphatic diseases, Internal medicine, polycyclic compounds, medicine, Vitamin B12, Methionine synthase, Megaloblastic anemia, biology, business.industry, nutritional and metabolic diseases, Metabolism, medicine.disease, 030104 developmental biology, chemistry, Pediatrics, Perinatology and Child Health, biology.protein, business
Abstract

We describe 2 children with cobalamin G disease, a disorder of vitamin B12 metabolism with normal serum B12 levels. They presented with megaloblastic anemia progressing rapidly to severe thrombotic microangiopathy. In infants presenting with acute thrombotic microangiopathy, cobalamin disorders should be considered early as diagnosis and targeted treatment can be lifesaving.

Published
2018
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