Allison Jay
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View article: The Value of Punching It Out: Patient With Cowden Syndrome and MALT Lymphoma of the Lung
The Value of Punching It Out: Patient With Cowden Syndrome and MALT Lymphoma of the Lung Open
Introduction Cowden syndrome (CS) is a phenotypic representation of PTEN hamartoma tumor syndrome. CS is the result of dysregulation of the MTOR pathway contributing to cellular proliferation, which leads to an increased risk for the devel…
View article: Telehealth in a Pediatric Patient with Nevoid Basal Cell Carcinoma Syndrome
Telehealth in a Pediatric Patient with Nevoid Basal Cell Carcinoma Syndrome Open
During COVID19, telemedicine was adapted by many practices to serve patients with a variety of health conditions including those affected by cancer. Here we report an 11-year-old patient who went to her dentist where a routine panorama x-r…
View article: Demineralization of Osseous Structures as Presentation of a Rare Genetic Disorder That Is Associated With a High Rate of Mortality
Demineralization of Osseous Structures as Presentation of a Rare Genetic Disorder That Is Associated With a High Rate of Mortality Open
Objectives: Describe the details of the clinical presentation, diagnostic challenges, and management of a female neonate with neonatal severe hyperparathyroidism (NSHPT). Methods: This case report was developed from a retrospective chart r…
View article: P895: Financial resources for cancer genetic testing: A quality improvement project in a Detroit Metro Area community hospital
P895: Financial resources for cancer genetic testing: A quality improvement project in a Detroit Metro Area community hospital Open
Financial toxicity describes the stress and harmful effect healthcare treatment for a serious condition can have on an individual's quality of life. Because conditions such as cancer incur such costly treatments, along with the diagnosis, …
View article: Tale of Two Counties With the Same Telehealth Story: Experience with Cancer Genetics Testing During COVID-19 at a Community Hospital
Tale of Two Counties With the Same Telehealth Story: Experience with Cancer Genetics Testing During COVID-19 at a Community Hospital Open
Introduction: With the onset of the COVID-19 pandemic in 2020, the utilization of telemedicine now offered an alternative diagnostic and treatment resource to providers in many areas of medicine including oncology and cancer genetics. This…
View article: More than an Incidentaloma: The Nonreportable NIPT
More than an Incidentaloma: The Nonreportable NIPT Open
Noninvasive prenatal testing (NIPT), which utilizes a maternal blood sample to detect fetal gender and screen for fetal aneuploidy (abnormal chromosomes), is widely used in obstetrics to screen for Trisomies 21, 18, and 13. Per the literat…
View article: Glycogen Storage Disease Type IX due to a Novel Mutation in PHKA2 Gene
Glycogen Storage Disease Type IX due to a Novel Mutation in PHKA2 Gene Open
We report a case of a 17-month-old male with a history of developmental delay with poor muscle control, hepatomegaly, and transaminitis. Ultrasound of abdomen revealed hepatomegaly with a liver span of 13 cm, homogeneous parenchyma, and no…
View article: A Case of 45,X/46,XY Mosaicism Presenting as Swyer Syndrome
A Case of 45,X/46,XY Mosaicism Presenting as Swyer Syndrome Open
This case demonstrates the clinical variability in the presentation of 45,X/46,XY mosaicism and highlights the importance of thorough genetic testing that includes consideration of chromosomal mosaicism. We will discuss the implications of…
View article: Cardiac Murmur in a Boy with Normal Paternal Prenatal Carrier Screening for Pompe Disease
Cardiac Murmur in a Boy with Normal Paternal Prenatal Carrier Screening for Pompe Disease Open
Introduction . Pompe disease is an autosomal recessive lysosomal storage disorder with marked morbidity and mortality, if untreated. With the advent of enzyme replacement therapy, it is essential to identify the infantile-type as early as …
View article: <i>The Wills Eye Handbook</i>, First Edition, by Alex V. Levin, Mario Zanolli, Jenina E. Capasso, New York, NY, Thieme Medical Publications, 2018, 296 pp., $99.99 Illustrations: 81, Print ISBN(Paperback): 978-1-6262-3293-8, Ebook ISBN: 978-1-6262-3294-5, Also, avail-5 able as an e-book, eISBN: 978-1-4939-3384-6
<i>The Wills Eye Handbook</i>, First Edition, by Alex V. Levin, Mario Zanolli, Jenina E. Capasso, New York, NY, Thieme Medical Publications, 2018, 296 pp., $99.99 Illustrations: 81, Print ISBN(Paperback): 978-1-6262-3293-8, Ebook ISBN: 978-1-6262-3294-5, Also, avail-5 able as an e-book, eISBN: 978-1-4939-3384-6 Open
"The Wills Eye Handbook, First Edition, by Alex V. Levin, Mario Zanolli, Jenina E. Capasso, New York, NY, Thieme Medical Publications, 2018, 296 pp., $99.99 Illustrations: 81, Print ISBN(Paperback): 978-1-6262-3293-8, Ebook ISBN: 978-1-626…
View article: An analysis of the effect of statins on the risk of Non‐Hodgkin's Lymphoma in the Women’s Health Initiative cohort
An analysis of the effect of statins on the risk of Non‐Hodgkin's Lymphoma in the Women’s Health Initiative cohort Open
Statins have been shown to induce a phosphoprotein signature that modifies MYC (myelocytomatosis viral oncogene) activation and to have anti‐inflammatory activity that may impact the risk of Non‐Hodgkin's lymphoma ( NHL ). We analyzed the …