Publications by authors named "Jewell C Ward"
Article Synopsis
- * A clinical trial involving 354 infants evaluated the effect of early versus delayed WGS results on clinical management within 60 days, looking at outcomes like changes in treatment and hospitalization duration.
- * Results showed that infants who received WGS results earlier were twice as likely to have their management changed compared to those receiving results later, indicating the potential benefits of timely genetic testing in acute care settings.
Article Synopsis
- - Kagami-Ogata syndrome (KOS) is a rare genetic disorder linked to chromosome 14, characterized by unique facial features, skeletal issues known as "coat hanger ribs," respiratory problems, and developmental delays, first identified in 1991.
- - The study highlights two unrelated male infants diagnosed with KOS after showing the "coat hanger" rib appearance on X-ray, emphasizing the need for awareness of specific symptoms like polyhydramnios and rib abnormalities for early diagnosis.
- - Despite being underdiagnosed, early identification of KOS can lead to better care management and informed decision-making for families, although the overall prognosis is poor.
Purpose: To report longitudinal phenotypic findings in a patient with Sanfilippo syndrome type IIIA, harboring SGSH mutations, one of which is novel.
Methods: Heparan-N-sulfatidase enzyme function testing in skin fibroblasts and white blood cells and SGSH gene sequencing were obtained. Clinical office examinations, examinations under anesthesia, electroretinogram, spectral domain optical coherence tomography (SD-OCT), and fundus photography were performed over a 5-year period.
Article Synopsis
- Type 1 hyper IgE syndrome (HIES), or Job's Syndrome, is a genetic disorder linked to defects in STAT3 signaling and is marked by a range of symptoms including repeated infections, skin issues, and high IgE levels.
- Diagnosis can be tricky, especially in young children, as symptoms develop over time, and specialized scoring systems were created to aid in diagnosis since the first one was published in 1999.
- The document includes a case study of a young child diagnosed with disseminated histoplasmosis who also has a new variant in the STAT3 gene.
Purpose: To investigate the potential influence of additional copy number variants in patients with 15q24 rearrangements and the possible underlying mechanisms for these rearrangements.
Methods: Oligonucleotide-based chromosomal microarray analyses were performed, and the results were subsequently confirmed by fluorescence in situ hybridization analyses. Long-range polymerase chain reaction amplification and DNA sequencing analysis were used for breakpoint junction sequencing.