A5025734055- Genomic variations and chromosomal abnormalities
- Lymphoma Diagnosis and Treatment
- Chronic Lymphocytic Leukemia Research
- Coronary Artery Anomalies
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Cancer Genomics and Diagnostics
- Viral-associated cancers and disorders
- Genomics and Rare Diseases
- Acute Myeloid Leukemia Research
- Genetics and Neurodevelopmental Disorders
- Multiple Myeloma Research and Treatments
- Salivary Gland Tumors Diagnosis and Treatment
- Connective tissue disorders research
- BRCA gene mutations in cancer
- Congenital heart defects research
- Acute Lymphoblastic Leukemia research
- Autism Spectrum Disorder Research
- Ear and Head Tumors
- RNA modifications and cancer
- Chronic Myeloid Leukemia Treatments
- Breast Implant and Reconstruction
- CNS Lymphoma Diagnosis and Treatment
- Sarcoma Diagnosis and Treatment
- Aortic Disease and Treatment Approaches
- Circular RNAs in diseases
University of Nebraska Medical Center
2011-2022
Nebraska Medical Center
2011-2022
Creighton University
2005
Summary The majority of paediatric Burkitt lymphoma (pBL) patients that relapse will die disease, but markers for this high‐risk subset are unknown. MYC translocations characterize pBL, additional genetic changes may relate to prognosis and serve as potential biomarkers. We utilized a molecular inversion probe single nucleotide polymorphism assay perform high resolution, genome‐wide copy number analysis on archival formalin‐fixed, paraffin‐embedded pBL germline tissues. identified...
Myhre syndrome, a connective tissue disorder characterized by deafness, restricted joint movement, compact body habitus, and distinctive craniofacial skeletal features, is caused heterozygous mutations in SMAD4 . Cardiac manifestations reported to date have included patent ductus arteriosus, septal defects, aortic coarctation pericarditis. We present five previously unreported patients with syndrome. Despite varied clinical phenotypes all had significant cardiac and/or pulmonary pathology...
Childhood apraxia of speech (CAS) is a debilitating pediatric disorder characterized by varying symptom profiles, comorbid deficits, and limited response to intervention. Specific Language Impairment (SLI) an inherited language delayed and/or disordered oral skills including impaired semantics, syntax, discourse. To date, the genes associated with CAS SLI are not fully characterized. In current study, we evaluated behavioral genetic profiles seven children eight SLI, while ensuring all were...
Conflict resolution in genomic variant interpretation is a critical step toward improving patient care. Evaluating discrepancies copy number variants (CNVs) typically involves assessing overlapping content with focus on genes/regions that may be subject to dosage sensitivity (haploinsufficiency (HI) and/or triplosensitivity (TS)). CNVs containing sensitive are generally interpreted as "likely pathogenic" (LP) or "pathogenic" (P), and involving the same known gene(s) should receive clinical...
Abstract Males with duplication of the Xq28 region, including methyl CpG‐binding protein 2 ( MECP2 ), exhibit a characteristic phenotype, developmental delay, intellectual disability, limited or absent speech, ambulation, and recurrent respiratory infections. We report six males duplications identified using array comparative genomic hybridization. The minimal sizes these range from ∼0.08 to 14.13 Mb, which, best our knowledge, are respectively smallest largest size molecularly characterized...
Philadelphia chromosome-positive acute myeloid leukemia (Ph+-AML) has a poor response to anthracycline- and cytarabine-containing regimens, high relapse rate, dismal prognosis. Although therapy with imatinib allogeneic stem cell transplantation (allo-SCT) is promising, relatively short follow-up limits understanding of long-term results these therapies. This report describes the outcomes 3 cases Ph+-AML diagnosed transplanted at University Nebraska Medical Center between 2004 2011. These...
The teleosts Trematomus bernacchii thrive in southern oceanic waters with temperatures below 0°C. These fish have serum osmolalities almost double those found of temperate waters, thereby lowering their serum's freezing point and the energy needed for ionic homeostasis. Upon warm acclimation to 4°C, T. decrease osmolality increase Na+,K+-ATPase activity gills. α1-, α2-, α3-subunit isoforms are expressed gills it is thought that subunit composition chloride cells changes acclimation. Using...
Abstract Multiple myeloma is a clonal malignancy of plasma cells in the bone marrow. Risk stratification partly based on cytogenetic findings that include abnormalities IGH locus as determined by fluorescence situ hybridization (FISH), such rearrangements result either standard‐risk or high‐risk gene fusions. deletions have been evaluated group multiple patients with respect to cumulative outcomes but provided limited guidance. Whether these potential fusions and thus further stratify...
Duplications of the long arm chromosome 18 have been previously reported in patients with phenotypic findings similar to full trisomy 18. Trisomy increases risk for Wilms tumor and it is currently recommended that these undergo abdominal ultrasonography screening every 6 months. We report on nephroblastomatosis a 27‐month‐old male 55 Mb duplication 18q11.2‐q23 (chr18:22693370–77982126, hg 19) propose protocol could also benefit large 18q duplications. © 2014 Wiley Periodicals, Inc.
Aortic aneurysms requiring surgery in early childhood are rare. Herein we describe the case of a three-year-old with massive aneurysmal aortic dilation secondary to rare and often lethal genetic disorder, cutis laxa. Initial thoracic aneurysm gene panel was negative. Parents child were not known be consanguineous, but high-density SNP array revealed several regions homozygosity. This prompted targeted sequence analysis that identified novel homozygous missense mutation for laxa, EFEMP2. The...
Our studies reveal previously unidentified electrical properties of chromosomes: (1) chromosomes are amazingly similar in construction and function to transformers; (2) possess their function, components those electric generators, conductors, condensers, switches, other circuits; (3) demonstrate nano-scale level electromagnetic interactions, resonance, fusion phenomena described by equations classical physics. These provide a possible explanation for unclear poorly understood mechanisms...
Abstract Missense variants in TUBB3 have historically been associated with either congenital fibrosis of the extraocular muscles type 3 (CFEOM3) or malformations cortical development (MCD). Until a recent report identified two amino acid substitutions four patients that had clinical features both disorders, pathogenic were thought distinct to respective disorder. Three recurrent de novo Gly71Arg and single patient Gly98Ser substitution blurred MCD CFEOM3 phenotypic distinctions. Here we...