A5037693922- Hereditary Neurological Disorders
- Neurological diseases and metabolism
- Neurogenetic and Muscular Disorders Research
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Blood transfusion and management
- Genomics and Rare Diseases
- Genetic Syndromes and Imprinting
- Neurological disorders and treatments
- Endoplasmic Reticulum Stress and Disease
- Herpesvirus Infections and Treatments
- Cardiac Valve Diseases and Treatments
- Rabies epidemiology and control
- Toxoplasma gondii Research Studies
- RNA regulation and disease
- Platelet Disorders and Treatments
Boston Children's Hospital
2021-2023
Harvard University
2022-2023
Boston Children's Museum
2023
University of Central Florida
2022
Florida College
2022
Thompson Rivers University
2022
Washington University in St. Louis
2006
Previous studies have shown a high prevalence of toxoplasmosis and the frequent occurrence ocular disease in Brazil.To identify genotypes parasite strains associated with disease, we compared 25 clinical animal isolates Toxoplasma gondii from Brazil to previously characterized clonal lineages North America Europe.Multilocus nested polymerase chain reaction analysis was combined direct sequencing polymorphic intron classify by phylogenetic methods.The T. isolated were highly divergent when...
AP-4-associated hereditary spastic paraplegia (AP-4-HSP: SPG47, SPG50, SPG51, SPG52) is an emerging cause of childhood-onset and mimic cerebral palsy. This study aims to define the spectrum brain MRI findings in AP-4-HSP investigate radioclinical correlations.We performed a systematic qualitative quantitative analysis 107 studies from 76 individuals with genetically confirmed correlation clinical including surrogates disease severity.We as disorder gray white matter demonstrate that abnormal...
ABSTRACT Background Familial hereditary spastic paraplegia (HSP)‐ SPAST (SPG4) typically presents with a pure HSP phenotype. Objective The aim of this study was to delineate the genotypic and phenotypic spectrum children de novo HSP‐ . Methods This used systematic cross‐sectional analysis clinical molecular features. Results We report 40 patients heterozygous pathogenic variants in (age range: 2.2–27.7 years). identified 19 unique (16/40 carried same recurrent variant, p.Arg499His). Symptom...
In the field of hereditary spastic paraplegia (HSP), progress in molecular diagnostics needs to be translated into robust phenotyping studies understand genetic and phenotypic heterogeneity support interventional trials. ZFYVE26-associated (HSP-ZFYVE26, SPG15) is a rare, early-onset complex HSP, characterized by progressive spasticity variety other neurological symptoms. While prior reports, often populations with high rates consanguinity, have established general phenotype, there lack...
Abstract Background Adaptor protein complex 4‐associated hereditary spastic paraplegia (AP‐4‐HSP) is caused by pathogenic biallelic variants in AP4B1 , AP4M1 AP4E1, and AP4S1 . Objective The aim was to explore blood markers of neuroaxonal damage AP‐4‐HSP. Methods Plasma neurofilament light chain (pNfL) glial fibrillary acidic (GFAP) levels were measured samples from patients age‐ sex‐matched controls (NfL: n = 46 vs. 46; GFAP: 14 21) using single‐molecule array assays. Patients' phenotypes...
Pathogenic variants in ATL1 are a known cause of autosomal-dominantly inherited hereditary spastic paraplegia (HSP-ATL1, SPG3A) with predominantly 'pure' HSP phenotype. Although relatively large number patients have been reported, no genotype-phenotype correlations established for specific variants. Confronted five children carrying de novo showing early, complex and severe symptoms, we systematically investigated the molecular phenotypic spectrum HSP-ATL1. Through cross-sectional analysis...
Abstract Background Pediatric spinal fusion may be associated with significant intraoperative blood loss, leading to complications from transfusion, hypoperfusion and coagulopathy. One emerging strategy mediate these risks is by utilization of the anti-fibrinolytic agent tranexamic acid (TXA). However, concerns regarding potential adverse reactions, specifically postoperative seizures thrombotic events, still exist. To assess risks, we examined perioperative morbidity TXA use in a large...
AP-4-associated hereditary spastic paraplegia (AP-4-HSP) is a childhood-onset neurogenetic disease and mimic of cerebral palsy. Data on health-related quality life (HRQoL) are lacking. To establish metric for HRQoL caregiver priorities, we used the Caregiver Priorities Child Health Index Life with Disabilities (CPCHILD) questionnaire to assess in correlation severity 64 patients AP-4-HSP.A cross-sectional analysis caregiver-reported was performed using CPCHILD combination detailed clinical...
Uniparental isodisomy can lead to blended phenotypes of imprinting disorders and autosomal recessive diseases. To determine whether a presentation Prader-Willi syndrome (PWS) progressive neurologic symptoms was caused by uniparental isodisomy, detailed clinical molecular characterization performed.A combination clinical, molecular, imaging data included in this study.We present the case 12-year-old boy with phenotype PWS hereditary spastic paraplegia type 11 (HSP-SPG11) maternal chromosome...
<h3>Objective:</h3> To describe the clinical and molecular features of <i>ZFYVE26</i>-related hereditary spastic paraplegia (HSP) in order to raise awareness this rare disease, facilitate an early diagnosis promote trial readiness. <h3>Background:</h3> <i>ZFYVE26</i>-associated (HSP-<i>ZFYVE26</i>, SPG15) is a early-onset form progressive HSP, characterized by spasticity variety other neurological symptoms. <h3>Design/Methods:</h3> 44 individuals with bi-allelic variants <i>ZFYVE26</i> were...
Abstract Background: Pediatric spinal fusion may be associated with significant intraoperative blood loss, leading to complications from transfusion, hypoperfusion and coagulopathy. One emerging strategy mediate these risks is by utilization of the anti-fibrinolytic agent tranexamic acid (TXA). However, concerns regarding potential adverse reactions, specifically postoperative seizures thrombotic events, still exist. To assess risks, we examined perioperative morbidity TXA use in a large...