A5032385786- Metabolism and Genetic Disorders
- Genomics and Rare Diseases
- Mitochondrial Function and Pathology
- Genetic Syndromes and Imprinting
- RNA modifications and cancer
- Wnt/β-catenin signaling in development and cancer
- Peptidase Inhibition and Analysis
- Folate and B Vitamins Research
- Congenital heart defects research
- Biochemical and Molecular Research
- Epigenetics and DNA Methylation
- Medical History and Innovations
- Neurogenetic and Muscular Disorders Research
- History of Medical Practice
- Thyroid Cancer Diagnosis and Treatment
- Myasthenia Gravis and Thymoma
- Medical and Biological Sciences
- Neonatal Health and Biochemistry
- Lysosomal Storage Disorders Research
- Protease and Inhibitor Mechanisms
- Ureteral procedures and complications
- Genetic and Kidney Cyst Diseases
- Pelvic and Acetabular Injuries
- Biomedical Research and Pathophysiology
- Infectious Encephalopathies and Encephalitis
University of Utah
2021-2025
Baylor College of Medicine
2018-2024
Primary Children's Hospital
2022-2023
Intermountain Healthcare
2022
Texas Children's Hospital
2018-2021
St. George's University
2011-2019
St. Joseph’s University Medical Center
2017
Saint Barnabas Medical Center
2013-2014
Mitochondrial diseases encompass a heterogeneous group of disorders with wide range clinical manifestations, most classically resulting in neurological, muscular, and metabolic abnormalities, but having the potential to affect any organ system. Over years, substantial progress has been made identifying characterizing various biomarkers associated mitochondrial diseases. This review summarizes current knowledge based on literature discusses evidence behind their use practice. A total 13 were...
<h3>Importance</h3> Recent advances in newborn screening (NBS) have improved the diagnosis of inborn errors metabolism (IEMs); however, many potentially treatable IEMs are not included on NBS panels, nor they covered standard, first-line biochemical testing. <h3>Objective</h3> To examine utility untargeted metabolomics as a primary tool for by comparing diagnostic rate clinical with recommended traditional metabolic approach. <h3>Design, Setting, and Participants</h3> This cross-sectional...
Rapid genomic diagnostics in the Neonatal Intensive Care Unit represents a paradigm shift medicine with increasing evidence of utility early diagnosis, impacting management. The goal Utah NeoSeq Project was to implement and evaluate multidisciplinary longitudinal rapid sequencing program while transitioning CLIA-certified sequencing. Enrollment 65 infants resulted 26 (40%) diagnostic variant(s) 7 (11%) harboring strong candidate. This includes re-analyses resulting four additional diagnoses....
Robinow syndrome (RS) is a genetically heterogeneous disorder with six genes that converge on the WNT/planar cell polarity (PCP) signaling pathway implicated (DVL1, DVL3, FZD2, NXN, ROR2, and WNT5A). RS characterized by skeletal dysplasia distinctive facial physical characteristics. To further explore genetic heterogeneity, paralog contribution, phenotypic variability of RS, we investigated cohort 22 individuals clinically diagnosed from 18 unrelated families. Pathogenic or likely pathogenic...
Short chain enoyl‐CoA hydratase (SCEH) deficiency leads to a severe form of autosomal recessive Leigh syndrome with inevitable neurological decline and early mortality. SCEH is most notably involved in valine catabolism, which results various metabolic alterations, including increased levels the highly reactive metabolite 2‐methacrylyl‐CoA. With no proven treatments available date, it has been speculated that patients may respond restricted diet and/or N ‐acetylcysteine supplementation, as...
Benjamin Alcock (1801–?) was a prominent anatomist from Ireland who is remembered most for his description of the pudendal canal. He privileged to train under great Irish anatomist, Abraham Colles. Following training and several early teaching engagements, he appointed as first Professor Anatomy Physiology at Queen's College, Cork. became Fellow Royal College Surgeons in Ireland. After years forced resign after dispute over Act 1832, during which conveyed disapproval participation...
Abstract Hartnup disease is an autosomal recessive condition characterized by neutral aminoaciduria and behavioral problems. It caused a loss of B 0 AT1, amino acid transporter in the kidney intestine. CLTRN encodes protein collectrin that functions transportation activation AT1 renal apical brush bordered epithelium. Collectrin deficient mice have severe aminoaciduria. However, phenotype associated with deficiency humans has not been reported. Here we report two patients, 11‐year‐old male...
The nuclear encoded gene RMND1 (Required for Meiotic Nuclear Division 1 homolog) has recently been linked to RMND1-related mitochondrial disease (RRMD). This autosomal recessive condition characteristically presents with an infantile-onset multisystem characterized by severe hypotonia, global developmental delay, failure thrive, sensorineural hearing loss, and lactic acidosis. Renal disease, however, appears be one of the more prominent features RRMD, affecting patients at significantly...
Genetic disorders contribute to significant morbidity and mortality in critically ill newborns. Despite advances genome sequencing technologies, a majority of neonatal cases remain unsolved. Complex structural variants (SVs) often elude conventional variant calling pipelines will explain portion these unsolved cases.As part the Utah NeoSeq project, we used research-based, rapid whole-genome (WGS) protocol investigate genomic etiology for newborn with left-sided congenital diaphragmatic...
Congenital myasthenic syndrome (CMS) is a group of 32 disorders involving genetic dysfunction at the neuromuscular junction resulting in skeletal muscle weakness that worsens with physical activity. Precise diagnosis and molecular subtype identification are critical for treatment as medication one may exacerbate disease another (Engel et al., Lancet Neurol 14: 420 [2015]; Finsterer, Orphanet J Rare Dis 57 [2019]; Prior Ghosh, Child 36: 610 [2021]). The SNAP25- related CMS (congenital 18,...
We report the clinical course of first prenatally diagnosed cross-reactive immunologic material (CRIM)-negative infantile Pompe disease (IPD) patient [homozygous for c.2560C>T (p.Arg854X) variant in GAA gene] to undergo prophylactic immune tolerance induction (ITI) and enzyme replacement therapy (ERT) within two days life. Both parents were found be carriers through prenatal carrier screening. Fetal echocardiogram at 31 weeks gestation showed left ventricular hypertrophy. An on day life...
Bernhard von Langenbeck is undeniably one of the world's greatest surgeons and inventors. The influence which he exerted upon practice surgery, as apparent by numerous surgical tools 21 operations credited to his name, represents notable contributions this amazing man. Despite techniques bear establishment a journal, role in co‐founding German Surgical Society, many attest that Langenbeck's contribution professional field was vast knowledge imparted on pupils. Commonly with training nearly...