Edward Yang
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View article: Neuroimaging Findings in Carbonic Anhydrase VA Deficiency: A Case Series Highlighting Diagnostic and Prognostic Patterns in a Potentially Reversible Mitochondrial Dysfunction
Neuroimaging Findings in Carbonic Anhydrase VA Deficiency: A Case Series Highlighting Diagnostic and Prognostic Patterns in a Potentially Reversible Mitochondrial Dysfunction Open
CA-VA＝ Carbonic Anhydrase VA; CA-VB＝ Carbonic Anhydrase VB; FOG＝ Favorable-outcome group; UOG＝ Unfavorable-outcome group; UCD＝ Urea cycle disorders.
View article: Fetal and Perinatal Brain MRI Findings in Adaptor Protein Complex 4–Associated Hereditary Spastic Paraplegia
Fetal and Perinatal Brain MRI Findings in Adaptor Protein Complex 4–Associated Hereditary Spastic Paraplegia Open
Purpose Adaptor protein complex 4–associated hereditary spastic paraplegia (AP‐4‐HSP) is a rare childhood‐onset neurogenetic disorder. With gene replacement therapies advancing, early—potentially prenatal—diagnosis holds significant clinic…
View article: Identifying Genomic Biomarkers of Immunotherapy Response in Advanced NSCLC Using an NLP-Derived Real-World Database
Identifying Genomic Biomarkers of Immunotherapy Response in Advanced NSCLC Using an NLP-Derived Real-World Database Open
View article: The Use of Synaptic Extracellular Myo‐Inositol to Treat Developmental and Epileptic Encephalopathy
The Use of Synaptic Extracellular Myo‐Inositol to Treat Developmental and Epileptic Encephalopathy Open
Objective The developmental and epileptic encephalopathies (DEE) are associated with serious and lifelong neurological conditions and risk of early mortality. Here, we describe the chronic treatment of a boy with PLCB1 ‐related DEE with en…
View article: Central Dysmyelination in SSADH‐Deficient Humans and Mice
Central Dysmyelination in SSADH‐Deficient Humans and Mice Open
Objectives Succinic semialdehyde dehydrogenase deficiency (SSADHD) is an inherited metabolic disorder characterized by an accumulation of γ‐aminobutyric (GABA). In addition to its synaptic role as an inhibitory neurotransmitter, GABA also …
View article: 0300 The impact of hypertension on mortality in melanoma patients: A matched cohort analysis
0300 The impact of hypertension on mortality in melanoma patients: A matched cohort analysis Open
View article: Cell-type-informed genotyping of mosaic focal epilepsies reveals cell-autonomous and non-cell-autonomous disease-associated transcriptional programs
Cell-type-informed genotyping of mosaic focal epilepsies reveals cell-autonomous and non-cell-autonomous disease-associated transcriptional programs Open
While it is widely accepted that somatic variants that activate the PI3K-mTOR pathway are a major cause of drug-resistant focal epilepsy, typically associated with focal cortical dysplasia (FCD) type 2, understanding the mechanism of epile…
View article: Rapid, high‐resolution and distortion‐free R2∗ mapping of fetal brain using multi‐echo radial FLASH and model‐based reconstruction
Rapid, high‐resolution and distortion‐free R2∗ mapping of fetal brain using multi‐echo radial FLASH and model‐based reconstruction Open
Purpose To develop a rapid, high‐resolution, and distortion‐free technique for simultaneous water‐fat separation, and mapping of the fetal brain at 3 T. Methods A 2D multi‐echo radial FLASH sequence with blip gradients is adapted for data …
View article: Variable Flip Angle Optimization for Fetal Brain Imaging With Reduced Specific Absorption Rate
Variable Flip Angle Optimization for Fetal Brain Imaging With Reduced Specific Absorption Rate Open
Half‐Fourier Acquisition with Single‐Shot Turbo Spin Echo (HASTE) scans are routinely used for fetal brain imaging, but they have a high specific absorption rate (SAR) and can be inefficient due to SAR limits. Here, we have designed an opt…
View article: Cellular hierarchies of embryonal tumors with multilayered rosettes are shaped by oncogenic microRNAs and receptor–ligand interactions
Cellular hierarchies of embryonal tumors with multilayered rosettes are shaped by oncogenic microRNAs and receptor–ligand interactions Open
View article: ImmunoStruct: a multimodal neural network framework for immunogenicity prediction from peptide-MHC sequence, structure, and biochemical properties
ImmunoStruct: a multimodal neural network framework for immunogenicity prediction from peptide-MHC sequence, structure, and biochemical properties Open
Epitope-based vaccines are promising therapeutic modalities for infectious diseases and cancer, but identifying immunogenic epitopes is challenging. The vast majority of prediction methods only use amino acid sequence information, and do n…
View article: O32: ANKRD17-related neurodevelopmental syndrome (Chopra-Amiel-Gordon syndrome): Further characterization and emerging genotype-phenotype correlations
O32: ANKRD17-related neurodevelopmental syndrome (Chopra-Amiel-Gordon syndrome): Further characterization and emerging genotype-phenotype correlations Open
View article: Implications of the choroid plexus in Niemann-Pick disease Type C neuropathogenesis
Implications of the choroid plexus in Niemann-Pick disease Type C neuropathogenesis Open
View article: A Multimodal Approach to The Detection and Classification of Skin Diseases
A Multimodal Approach to The Detection and Classification of Skin Diseases Open
According to PBS, nearly one-third of Americans lack access to primary care services, and another forty percent delay going to avoid medical costs. As a result, many diseases are left undiagnosed and untreated, even if the disease shows ma…
View article: ImmunoStruct: a multimodal neural network framework for immunogenicity prediction from peptide-MHC sequence, structure, and biochemical properties
ImmunoStruct: a multimodal neural network framework for immunogenicity prediction from peptide-MHC sequence, structure, and biochemical properties Open
Epitope-based vaccines are promising therapeutic modalities for infectious diseases and cancer, but identifying immunogenic epitopes is challenging. The vast majority of prediction methods only use amino acid sequence information, and do n…
View article: Systemically injected oxygen within rapidly dissolving microbubbles improves the outcomes of severe hypoxaemia in swine
Systemically injected oxygen within rapidly dissolving microbubbles improves the outcomes of severe hypoxaemia in swine Open
Acute respiratory failure can cause profound hypoxaemia that leads to organ injury or death within minutes. When conventional interventions are ineffective, the intravenous administration of oxygen can rescue patients from severe hypoxaemi…
View article: Data from A pilot study omitting radiation in the treatment of children with newly diagnosed Wnt-activated medulloblastoma
Data from A pilot study omitting radiation in the treatment of children with newly diagnosed Wnt-activated medulloblastoma Open
Purpose: Treatment of wingless (WNT)-activated medulloblastoma (WNT+MB) with surgery, irradiation (XRT) and chemotherapy results in excellent outcomes. We studied the efficacy of therapy de-intensification by omitting XRT entirely in child…
View article: Supplementary Table S1 from A pilot study omitting radiation in the treatment of children with newly diagnosed Wnt-activated medulloblastoma
Supplementary Table S1 from A pilot study omitting radiation in the treatment of children with newly diagnosed Wnt-activated medulloblastoma Open
Detailed mutations
View article: Supplementary Table S2 from A pilot study omitting radiation in the treatment of children with newly diagnosed Wnt-activated medulloblastoma
Supplementary Table S2 from A pilot study omitting radiation in the treatment of children with newly diagnosed Wnt-activated medulloblastoma Open
Representativeness Table
View article: Supplementary Table S1 from A pilot study omitting radiation in the treatment of children with newly diagnosed Wnt-activated medulloblastoma
Supplementary Table S1 from A pilot study omitting radiation in the treatment of children with newly diagnosed Wnt-activated medulloblastoma Open
Detailed mutations
View article: Supplementary Table S2 from A pilot study omitting radiation in the treatment of children with newly diagnosed Wnt-activated medulloblastoma
Supplementary Table S2 from A pilot study omitting radiation in the treatment of children with newly diagnosed Wnt-activated medulloblastoma Open
Representativeness Table
View article: Different strategies for treating intracanal fractured instruments in a single tooth: A case report
Different strategies for treating intracanal fractured instruments in a single tooth: A case report Open
A fractured instrument (FI) in the root canal is a common complication during root canal therapy. Under current medical conditions, instrument separation cannot be completely avoided because of the complex morphology of root canals and the…
View article: TRLS-09. CONNECT1903: A PILOT AND SURGICAL STUDY OF LAROTRECTINIB FOR TREATMENT OF CHILDREN WITH NEWLY DIAGNOSED HGG WITH NTRK FUSION (NCT04655404)
TRLS-09. CONNECT1903: A PILOT AND SURGICAL STUDY OF LAROTRECTINIB FOR TREATMENT OF CHILDREN WITH NEWLY DIAGNOSED HGG WITH NTRK FUSION (NCT04655404) Open
BACKGROUND Recurrent fusions in neurotrophic tropomyosin-receptor kinase genes NTRK 1-3 are found in variety of cancers, including pediatric HGG: DIPG (~4%) and non-brainstem HGG (~10%). For non-brainstem HGG seen in children <3 years o…
View article: Automatic cortical surface parcellation in the fetal brain using attention-gated spherical U-net
Automatic cortical surface parcellation in the fetal brain using attention-gated spherical U-net Open
Cortical surface parcellation for fetal brains is essential for the understanding of neurodevelopmental trajectories during gestations with regional analyses of brain structures and functions. This study proposes the attention-gated spheri…
View article: Divergent growth of the transient brain compartments in fetuses with nonsyndromic isolated clefts involving the primary and secondary palate
Divergent growth of the transient brain compartments in fetuses with nonsyndromic isolated clefts involving the primary and secondary palate Open
Cleft lip/palate is a common orofacial malformation that often leads to speech/language difficulties as well as developmental delays in affected children, despite surgical repair. Our understanding of brain development in these children is…
View article: P208: Insights into diagnostic yield and novel genetic etiologies for unilateral polymicrogyria
P208: Insights into diagnostic yield and novel genetic etiologies for unilateral polymicrogyria Open
Polymicrogyria (PMG) is one of the more common malformations of human cortical development and is often classified by its radiographic pattern of distribution. Unilateral polymicrogyria is a subtype of polymicrogyria affecting only a porti…
View article: Characterization of central manifestations in patients with Niemann-Pick disease type C
Characterization of central manifestations in patients with Niemann-Pick disease type C Open
View article: Supplementary Table S2 from A Pilot Study Omitting Radiation in the Treatment of Children with Newly Diagnosed Wnt-Activated Medulloblastoma
Supplementary Table S2 from A Pilot Study Omitting Radiation in the Treatment of Children with Newly Diagnosed Wnt-Activated Medulloblastoma Open
Representativeness Table
View article: Supplementary Table S1 from A Pilot Study Omitting Radiation in the Treatment of Children with Newly Diagnosed Wnt-Activated Medulloblastoma
Supplementary Table S1 from A Pilot Study Omitting Radiation in the Treatment of Children with Newly Diagnosed Wnt-Activated Medulloblastoma Open
Detailed mutations
View article: Data from A Pilot Study Omitting Radiation in the Treatment of Children with Newly Diagnosed Wnt-Activated Medulloblastoma
Data from A Pilot Study Omitting Radiation in the Treatment of Children with Newly Diagnosed Wnt-Activated Medulloblastoma Open
Purpose:Treatment of wingless (WNT)-activated medulloblastoma (WNT+MB) with surgery, irradiation (XRT), and chemotherapy results in excellent outcomes. We studied the efficacy of therapy de-intensification by omitting XRT entirely in child…