A5003034600- Liver Disease Diagnosis and Treatment
- Advanced MRI Techniques and Applications
- Ultrasound Imaging and Elastography
- Hepatocellular Carcinoma Treatment and Prognosis
- Genomics and Rare Diseases
- Metabolism and Genetic Disorders
- Cardiac Arrhythmias and Treatments
- Organ and Tissue Transplantation Research
- Cardiomyopathy and Myosin Studies
- CRISPR and Genetic Engineering
- Diet and metabolism studies
- Lung Cancer Diagnosis and Treatment
- MRI in cancer diagnosis
- Genomic variations and chromosomal abnormalities
- Gastrointestinal motility and disorders
- Oral and gingival health research
- Biotin and Related Studies
- Orthopaedic implants and arthroplasty
- Central Venous Catheters and Hemodialysis
- BRCA gene mutations in cancer
- Hedgehog Signaling Pathway Studies
- Cardiovascular Disease and Adiposity
- Genetic and rare skin diseases.
- Nerve Injury and Rehabilitation
- Tendon Structure and Treatment
University of California, Los Angeles
2012-2024
Guilan University of Medical Sciences
2024
Jackson Laboratory
2021-2024
Shahid Beheshti University of Medical Sciences
2022
Worcester Polytechnic Institute
2022
Iran University of Medical Sciences
1996-2016
Ronald Reagan UCLA Medical Center
2016
Isfahan University of Medical Sciences
2007
truncation variants (TTNtvs) are the most common genetic lesion identified in individuals with dilated cardiomyopathy, a disease high morbidity and mortality rates. TTNtvs reduce normal TTN (titin) protein levels, produce truncated proteins, impair sarcomere content function. Therapeutics targeting have been elusive because of immense size TTN, rarity specific TTNtvs, incomplete knowledge TTNtv pathogenicity.
<h3>Background</h3> Constitutional DICER1 mutations have been associated with pleuropulmonary blastoma, cystic nephroma, Sertoli-Leydig tumours and multinodular goitres, while somatic reported in additional tumour types. Here we report a novel syndrome termed GLOW, an acronym for its core phenotypic findings, which include <i>G</i>lobal developmental delay, <i>L</i>ung cysts, <i>O</i>vergrowth <i>W</i>ilms caused by the RNase IIIb domain of DICER1. <h3>Methods results</h3> We performed whole...
Titin truncation variants (TTNtvs) are the most common inheritable risk factor for dilated cardiomyopathy (DCM), a disease with high morbidity and mortality. The pathogenicity of TTNtvs has been associated structural localization as A-band overlapping myosin heavy chain-binding domains more pathogenic than I-band by incompletely understood mechanisms. Demonstrating why highly DCM could reveal new insights into pathogenesis, titin (TTN) functions, therapeutic targets.
The cohesin complex is an evolutionarily conserved multi-subunit protein which regulates sister chromatid cohesion during mitosis and meiosis. Additionally, the DNA replication, repair, transcription. core of consists four subunits: SMC1A, SMC3, RAD21, STAG1/2. Loss-of-function mutations in many these proteins have been implicated human developmental disorders collectively termed "cohesinopathies." Through clinical exome sequencing (CES) 8-year-old girl with a history global delay,...
Actinins are strain-sensing actin cross-linkers that ubiquitously expressed and harbor mutations in human diseases. We utilize CRISPR, pluripotent stem cells, BioID to study actinin interactomes cardiomyocytes. identify 324 proximity partners, including those dependent on sarcomere assembly. confirm 19 known interactors a network of RNA-binding proteins, with RNA localization functions. In vivo biochemical interaction studies support IGF2BP2 localizes electron transport chain transcripts...
Dominant missense mutations in the amyloid β (Aβ) precursor protein (APP) gene have been implicated early onset Alzheimer disease. These alter structure to favor pathologic production of Aβ. We report that homozygous nonsense APP are associated with decreased somatic growth, microcephaly, hypotonia, developmental delay, thinning corpus callosum, and seizures. compare phenotype this case those reported mouse models demonstrate multiple similarities, strengthening role normal brain function...
Magnetic resonance (MR) elastography of the liver measures hepatic stiffness, which correlates with histopathological staging fibrosis. Conventional Cartesian gradient-echo (GRE) MR requires breath-holding, is challenging for children. Non-Cartesian radial free-breathing a potential solution to this problem.To investigate measuring stiffness in children.In prospective pilot study, 14 healthy children and 9 disease were scanned at 3 T using 2-D GRE breath-hold (22 s/slice) (163 s/slice). Each...
Abstract Overgrowth syndromes, defined as genetic disorders in which there is disproportionate somatic growth, are challenging to diagnose due their heterogeneous presentations and possible differing etiologies. CLOVES syndrome characterized by congenital lipomatous overgrowth, vascular malformations, epidermal nevi, skeletal abnormalities (Scoliosis). We describe a developmental follow up of the changes detailed account its management. demonstrate asymmetric growth rate toes responsible for...
Conventional liver magnetic resonance elastography (MRE) requires breath-holding (BH) to avoid motion artifacts, which is challenging for children. While radial free-breathing (FB)-MRE an alternative quantifying stiffness (LS), previous methods had limitations of long scan times, acquiring two slices in 5 minutes, and not resolving during reconstruction. To reduce FB-MRE time 4 minutes four investigate the impact self-gated (SG) compensation on LS quantification terms agreement, intrasession...
Conventional, breath-holding magnetic resonance imaging (MRI) assesses body composition by measuring fat volumes and proton density fraction (PDFF). However, MRI is not always feasible in children. This study's objective was to use free-breathing quantify visceral subcutaneous PDFFs correlate these measurements with hepatic PDFF.This an observational, hypothesis-forming study that enrolled 2 groups of children (ages 6-17 years), healthy overweight presumed nonalcoholic fatty liver disease....
Gadofosveset is a gadolinium-based blood pool contrast agent that was approved by the United States Food and Drug Administration in 2008. Its unanticipated withdrawal from production 2016 created void inventory highlighted need for an alternative with comparable imaging properties.The purpose of our study to compare diagnostic image quality, vascular contrast-to-noise ratio (CNR) temporal signal characteristics gadofosveset trisodium ferumoxytol at similar molar doses high-resolution,...
Previous work has proposed self-navigated golden-angle (GA) radial free-breathing (FB) MR elastography (MRE) of the liver. This employed a standard DC-based motion compensation framework that proved suboptimal. Here we propose an image-space based motion-compensation for 2D MRE. The method is compared to by measuring signal-to-noise (SNR) after each (8 subjects). median (interquartile range) SNR across subjects was 4.8 (3.6-5.7) and 6.8 (6.3-7.5) methods, respectively. Inclusion data may...
Hepatic stiffness measured by MR elastography (MRE) is a biomarker for fibrosis. Standard liver MRE requires breath-holding (BH) to avoid motion artifacts, but BH challenging children. Radial free-breathing (FB) can overcome this challenge longer scan times. FB-MRE using rapid wave encoding decreases the time and self-navigation supports compensation. With help of fractional reduce echo times, image quality be further improved. This work demonstrated that self-navigated methods measure...
Motivation: MR elastography (MRE) detects liver fibrosis by measuring hepatic stiffness (HS). Breath-holding (BH) is required to avoid motion artifacts, but this challenging in children. Previous radial free-breathing (FB) MRE eliminated the BH, 2 min/slice. Goal(s): To reduce scan time for FB-MRE and analyze effects of self-gating on HS. Approach: Radial was modified acquire lower resolution perform spatial interpolation, which reduced time. Self-gating performed compensate breathing...
Motivation: Hepatic stiffness (HS), detected by MR elastography (MRE), is a biomarker for hepatic fibrosis. Liver MRE requires breath-holding (BH), which challenging in children or people with liver disease. Spin-echo echo-planar-imaging (SE-EPI) can quantify HS rapidly(~10 s), even iron overload. Goal(s): To evaluate free-breathing (FB) SE-EPI without respiratory triggering motion compensation terms of agreement, repeatability, and measurable area [%] respect to BH MRE. Approach: FB were...
<title>Abstract</title> <bold>Background</bold> In HIV-positive patients, due to weak immunity, long-term use of drug treatment, stigma and discrimination, oral dental problems are more common than in the non-affected population. Lack adequate attention planning facilitate their access care treatment services without discrimination at low cost causes reduction referrals or concealment disease as a result exacerbation underlying possibility spreading patient's relatives health...
For pediatric oncology patients, CT scans are performed to assess treatment response and disease progression. CAD may be used detect lung nodules which would reflect metastatic disease. The purpose of this study was investigate the effects reducing radiation dose varying slice thickness on performance in detection solid patients. dataset consisted 58 chest cases, from 7 cases had detected by radiologist, a total 28 were marked. each case, original raw data (sinogram data) collected noise...
Background. Fecalomas are hard dense masses separate from surrounding fecal material or bowel contents. This case report intends to provide a brief review of the literature and differential diagnosis for pelvic mass in pediatric patient. Case Presentation. The patient is 5-year-old male presenting with worsening constipation stool leakage over several months, found have rare calcified on abdominal X-ray consistent fecaloma. Conclusion. should be considered patients who present chronic mass.