Article in Neurology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
2 · The registry
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Olivier FortinFrom the Zickler Family Prenatal Pediatrics Institute (O.F., K. Christoffel, K. Cilli, J.L.F.), Department of Radiology (J.W.S.), Rare Disease Institute (J.L.F.), and Center for Genetic Medicine Research (J.L.F.), Children's National Hospital, Washington, DC; Departments of Neurology and Rehabilitation Medicine (K. Christoffel), Radiology (J.W.S.), and Pediatrics (J.L.F.), George Washington University School of Medicine and Health Sciences, Washington, DC; Departments of Pediatrics (A.B.S.) and Neurology (A.B.S.), University of Texas Southwestern Medical Center, Dallas; Division of Neurology (C.V.), Cincinnati Children's Hospital Medical Center; Department of Pediatrics (C.V.), University of Cincinnati College of Medicine, OH; Department of Radiology (C.A.), Boston Children's Hospital, MA; Division of Human Genetics (R.D.G.), Children's Hospital of Philadelphia; and Department of Pediatrics (R.D.G.), University of Pennsylvania Perelman School of Medicine, Philadelphia.ORCID 0000-0002-9349-0592
Kelsey ChristoffelFrom the Zickler Family Prenatal Pediatrics Institute (O.F., K. Christoffel, K. Cilli, J.L.F.), Department of Radiology (J.W.S.), Rare Disease Institute (J.L.F.), and Center for Genetic Medicine Research (J.L.F.), Children's National Hospital, Washington, DC; Departments of Neurology and Rehabilitation Medicine (K. Christoffel), Radiology (J.W.S.), and Pediatrics (J.L.F.), George Washington University School of Medicine and Health Sciences, Washington, DC; Departments of Pediatrics (A.B.S.) and Neurology (A.B.S.), University of Texas Southwestern Medical Center, Dallas; Division of Neurology (C.V.), Cincinnati Children's Hospital Medical Center; Department of Pediatrics (C.V.), University of Cincinnati College of Medicine, OH; Department of Radiology (C.A.), Boston Children's Hospital, MA; Division of Human Genetics (R.D.G.), Children's Hospital of Philadelphia; and Department of Pediatrics (R.D.G.), University of Pennsylvania Perelman School of Medicine, Philadelphia.ORCID 0000-0001-6719-4135
Abdullah B ShoaibFrom the Zickler Family Prenatal Pediatrics Institute (O.F., K. Christoffel, K. Cilli, J.L.F.), Department of Radiology (J.W.S.), Rare Disease Institute (J.L.F.), and Center for Genetic Medicine Research (J.L.F.), Children's National Hospital, Washington, DC; Departments of Neurology and Rehabilitation Medicine (K. Christoffel), Radiology (J.W.S.), and Pediatrics (J.L.F.), George Washington University School of Medicine and Health Sciences, Washington, DC; Departments of Pediatrics (A.B.S.) and Neurology (A.B.S.), University of Texas Southwestern Medical Center, Dallas; Division of Neurology (C.V.), Cincinnati Children's Hospital Medical Center; Department of Pediatrics (C.V.), University of Cincinnati College of Medicine, OH; Department of Radiology (C.A.), Boston Children's Hospital, MA; Division of Human Genetics (R.D.G.), Children's Hospital of Philadelphia; and Department of Pediatrics (R.D.G.), University of Pennsylvania Perelman School of Medicine, Philadelphia.ORCID 0000-0003-3461-8784
Charu VenkatesanFrom the Zickler Family Prenatal Pediatrics Institute (O.F., K. Christoffel, K. Cilli, J.L.F.), Department of Radiology (J.W.S.), Rare Disease Institute (J.L.F.), and Center for Genetic Medicine Research (J.L.F.), Children's National Hospital, Washington, DC; Departments of Neurology and Rehabilitation Medicine (K. Christoffel), Radiology (J.W.S.), and Pediatrics (J.L.F.), George Washington University School of Medicine and Health Sciences, Washington, DC; Departments of Pediatrics (A.B.S.) and Neurology (A.B.S.), University of Texas Southwestern Medical Center, Dallas; Division of Neurology (C.V.), Cincinnati Children's Hospital Medical Center; Department of Pediatrics (C.V.), University of Cincinnati College of Medicine, OH; Department of Radiology (C.A.), Boston Children's Hospital, MA; Division of Human Genetics (R.D.G.), Children's Hospital of Philadelphia; and Department of Pediatrics (R.D.G.), University of Pennsylvania Perelman School of Medicine, Philadelphia.
Kate CilliFrom the Zickler Family Prenatal Pediatrics Institute (O.F., K. Christoffel, K. Cilli, J.L.F.), Department of Radiology (J.W.S.), Rare Disease Institute (J.L.F.), and Center for Genetic Medicine Research (J.L.F.), Children's National Hospital, Washington, DC; Departments of Neurology and Rehabilitation Medicine (K. Christoffel), Radiology (J.W.S.), and Pediatrics (J.L.F.), George Washington University School of Medicine and Health Sciences, Washington, DC; Departments of Pediatrics (A.B.S.) and Neurology (A.B.S.), University of Texas Southwestern Medical Center, Dallas; Division of Neurology (C.V.), Cincinnati Children's Hospital Medical Center; Department of Pediatrics (C.V.), University of Cincinnati College of Medicine, OH; Department of Radiology (C.A.), Boston Children's Hospital, MA; Division of Human Genetics (R.D.G.), Children's Hospital of Philadelphia; and Department of Pediatrics (R.D.G.), University of Pennsylvania Perelman School of Medicine, Philadelphia.ORCID 0000-0002-0983-5384
Jason W SchroederFrom the Zickler Family Prenatal Pediatrics Institute (O.F., K. Christoffel, K. Cilli, J.L.F.), Department of Radiology (J.W.S.), Rare Disease Institute (J.L.F.), and Center for Genetic Medicine Research (J.L.F.), Children's National Hospital, Washington, DC; Departments of Neurology and Rehabilitation Medicine (K. Christoffel), Radiology (J.W.S.), and Pediatrics (J.L.F.), George Washington University School of Medicine and Health Sciences, Washington, DC; Departments of Pediatrics (A.B.S.) and Neurology (A.B.S.), University of Texas Southwestern Medical Center, Dallas; Division of Neurology (C.V.), Cincinnati Children's Hospital Medical Center; Department of Pediatrics (C.V.), University of Cincinnati College of Medicine, OH; Department of Radiology (C.A.), Boston Children's Hospital, MA; Division of Human Genetics (R.D.G.), Children's Hospital of Philadelphia; and Department of Pediatrics (R.D.G.), University of Pennsylvania Perelman School of Medicine, Philadelphia.ORCID 0009-0005-2534-9270
Cesar AlvesFrom the Zickler Family Prenatal Pediatrics Institute (O.F., K. Christoffel, K. Cilli, J.L.F.), Department of Radiology (J.W.S.), Rare Disease Institute (J.L.F.), and Center for Genetic Medicine Research (J.L.F.), Children's National Hospital, Washington, DC; Departments of Neurology and Rehabilitation Medicine (K. Christoffel), Radiology (J.W.S.), and Pediatrics (J.L.F.), George Washington University School of Medicine and Health Sciences, Washington, DC; Departments of Pediatrics (A.B.S.) and Neurology (A.B.S.), University of Texas Southwestern Medical Center, Dallas; Division of Neurology (C.V.), Cincinnati Children's Hospital Medical Center; Department of Pediatrics (C.V.), University of Cincinnati College of Medicine, OH; Department of Radiology (C.A.), Boston Children's Hospital, MA; Division of Human Genetics (R.D.G.), Children's Hospital of Philadelphia; and Department of Pediatrics (R.D.G.), University of Pennsylvania Perelman School of Medicine, Philadelphia.ORCID 0000-0001-5877-9086
Rebecca D GanetzkyFrom the Zickler Family Prenatal Pediatrics Institute (O.F., K. Christoffel, K. Cilli, J.L.F.), Department of Radiology (J.W.S.), Rare Disease Institute (J.L.F.), and Center for Genetic Medicine Research (J.L.F.), Children's National Hospital, Washington, DC; Departments of Neurology and Rehabilitation Medicine (K. Christoffel), Radiology (J.W.S.), and Pediatrics (J.L.F.), George Washington University School of Medicine and Health Sciences, Washington, DC; Departments of Pediatrics (A.B.S.) and Neurology (A.B.S.), University of Texas Southwestern Medical Center, Dallas; Division of Neurology (C.V.), Cincinnati Children's Hospital Medical Center; Department of Pediatrics (C.V.), University of Cincinnati College of Medicine, OH; Department of Radiology (C.A.), Boston Children's Hospital, MA; Division of Human Genetics (R.D.G.), Children's Hospital of Philadelphia; and Department of Pediatrics (R.D.G.), University of Pennsylvania Perelman School of Medicine, Philadelphia.ORCID 0000-0001-6238-8109
Jamie L FraserFrom the Zickler Family Prenatal Pediatrics Institute (O.F., K. Christoffel, K. Cilli, J.L.F.), Department of Radiology (J.W.S.), Rare Disease Institute (J.L.F.), and Center for Genetic Medicine Research (J.L.F.), Children's National Hospital, Washington, DC; Departments of Neurology and Rehabilitation Medicine (K. Christoffel), Radiology (J.W.S.), and Pediatrics (J.L.F.), George Washington University School of Medicine and Health Sciences, Washington, DC; Departments of Pediatrics (A.B.S.) and Neurology (A.B.S.), University of Texas Southwestern Medical Center, Dallas; Division of Neurology (C.V.), Cincinnati Children's Hospital Medical Center; Department of Pediatrics (C.V.), University of Cincinnati College of Medicine, OH; Department of Radiology (C.A.), Boston Children's Hospital, MA; Division of Human Genetics (R.D.G.), Children's Hospital of Philadelphia; and Department of Pediatrics (R.D.G.), University of Pennsylvania Perelman School of Medicine, Philadelphia.ORCID 0000-0002-7794-8903
Funding
No grant is acknowledged in the PubMed record.
6 · The paper itself
Abstract
BACKGROUND AND
objectivesPyruvate dehydrogenase complex deficiency (PDCD) is a disorder of mitochondrial metabolism that is caused by pathogenic variants in multiple genes, including
methodsFetuses with a diagnosis of PDCD related to a genetic etiology that had undergone fetal MRI were included. Fetuses were identified retrospectively from local databases of 4 fetal diagnostic clinics within tertiary pediatric health care centers. Electronic medical records were reviewed retrospectively: demographics, maternal and pregnancy history, fetal outcomes, and neonatal outcomes (if available) were reviewed and recorded. Fetal and neonatal imaging reports were reviewed; source fetal and neonatal brain MRI scans were reviewed by a single pediatric neuroradiologist (J.W.S.) for consistency. Genetic testing strategies and results including variant type, zygosity, inheritance pattern, and pathogenicity were recorded. Deidentified data were combined and reported descriptively.
resultsA total of 10 fetuses with a diagnosis of PDCD were included. 8 fetuses had corpus callosum dysgenesis, 6 had an abnormal gyration pattern, 10 had reduced brain volumes, and 9 had cystic lesions. 1 fetus had intraventricular hemorrhages. 1 fetus had a midbrain malformation with aqueductal stenosis and severe hydrocephalus. 6 fetuses imaged in the second trimester had cystic lesions involving the ganglionic eminences (GEs) while GE cysts were not present in the 4 fetuses imaged in the third trimester. DISCUSSION: Fetuses with PDCD have similar brain MRI findings to neonates described in the literature, although some of these findings are subtle early in pregnancy. Additional features, such as cystic lesions of the GEs, are noted in the second trimester in fetuses with PDCD. These may represent an early diagnostic marker of PDCD, although more data are needed to validate this association. Early diagnosis of PDCD using fetal MRI may inform genetic counseling, pregnancy decision making, and neonatal care planning.
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.
Fetal Brain MRI Abnormalities in Pyruvate Dehydrogenase Complex Deficiency. · full record | OpenQuestion