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Full-Text Articles in Endocrine System Diseases
A Cryptic Microdeletion Del(12)(P11.21p11.23) Within An Unbalanced Translocation T(7;12)(Q21.13;Q23.1) Implicates New Candidate Loci For Intellectual Disability And Kallmann Syndrome, Afif Ben-Mahmoud, Shotaro Kishikawa, Vijay Gupta, Natalia T. Leach, Yiping Shen, Oana Moldovan, Himanshu Goel, Bruce Hopper, Kara Ranguin, Nicolas Gruchy, Saskia M. Maas, Yves Lacassie, Soo Hyun Kim, Woo Yang Kim, Bradley J. Quade, Cynthia C. Morton, Cheol Hee Kim, Lawrence C. Layman, Hyung Goo Kim
A Cryptic Microdeletion Del(12)(P11.21p11.23) Within An Unbalanced Translocation T(7;12)(Q21.13;Q23.1) Implicates New Candidate Loci For Intellectual Disability And Kallmann Syndrome, Afif Ben-Mahmoud, Shotaro Kishikawa, Vijay Gupta, Natalia T. Leach, Yiping Shen, Oana Moldovan, Himanshu Goel, Bruce Hopper, Kara Ranguin, Nicolas Gruchy, Saskia M. Maas, Yves Lacassie, Soo Hyun Kim, Woo Yang Kim, Bradley J. Quade, Cynthia C. Morton, Cheol Hee Kim, Lawrence C. Layman, Hyung Goo Kim
School of Medicine Faculty Publications
In a patient diagnosed with both Kallmann syndrome (KS) and intellectual disability (ID), who carried an apparently balanced translocation t(7;12)(q22;q24)dn, array comparative genomic hybridization (aCGH) disclosed a cryptic heterozygous 4.7 Mb deletion del(12)(p11.21p11.23), unrelated to the translocation breakpoint. This novel discovery prompted us to consider the possibility that the combination of KS and neurological disorder in this patient could be attributed to gene(s) within this specific deletion at 12p11.21-12p11.23, rather than disrupted or dysregulated genes at the translocation breakpoints. To further support this hypothesis, we expanded our study by screening five candidate genes at both breakpoints of the chromosomal translocation …
Comparison Of Medical Management Versus Parathyroidectomy In Patients With Mild Primary Hyperparathyroidism: A Meta-Analysis., Katherine A. Cironi, Peter P. Issa, Aaron L. Albuck, Christina Mccarthy, Leely Rezvani, Mohammad Hussein, Xinyi Luo, Mohamed Shama, Eman Toraih, Emad Kandil
Comparison Of Medical Management Versus Parathyroidectomy In Patients With Mild Primary Hyperparathyroidism: A Meta-Analysis., Katherine A. Cironi, Peter P. Issa, Aaron L. Albuck, Christina Mccarthy, Leely Rezvani, Mohammad Hussein, Xinyi Luo, Mohamed Shama, Eman Toraih, Emad Kandil
School of Medicine Faculty Publications
Background: Parathyroidectomy is the definitive cure for patients with primary hyperparathyroidism (pHPT) and has an annual prevalence of 0.2–1% in the United States. Some patients with mild disease are medically managed effectively using calcium-lowering medications and drugs against complications such as osteoporosis; however, many maintain a persistently high calcium level that negatively impacts their skeletal, renal, and psychogenic systems over the long term. This meta-analysis aims to compare the outcomes of medical management versus parathyroidectomy in patients with mild pHPT. Study Design: This meta-analysis was performed in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines …
Diagnostic Performance Of Afirma And Interpace Diagnostics Genetic Testing In Indeterminate Thyroid Nodules: A Single Center Study †, Emad Kandil, Tyler A. Metz, Peter P. Issa, Mohamed Aboueisha, Mahmoud Omar, Abdallah S. Attia, Bert Chabot, Mohammad Hussein, Krzysztof Moroz, Mohamed Shama, Eman Toraih
Diagnostic Performance Of Afirma And Interpace Diagnostics Genetic Testing In Indeterminate Thyroid Nodules: A Single Center Study †, Emad Kandil, Tyler A. Metz, Peter P. Issa, Mohamed Aboueisha, Mahmoud Omar, Abdallah S. Attia, Bert Chabot, Mohammad Hussein, Krzysztof Moroz, Mohamed Shama, Eman Toraih
School of Medicine Faculty Publications
Indeterminate thyroid nodules (ITN) represent 20–30% of biopsied nodules, with a 10–60% risk of malignancy. Molecular testing can stratify the risk of malignancy among ITNs, and subsequently reduce the need for unnecessary diagnostic surgery. We aimed to assess the performance of these molecular tests at a single institution. Patients with Bethesda III, IV, and V nodules with Afirma and Interpace Diagnostics genetic testing data from November 2013 to November 2021 were included. Three cohorts were formed, including GSC + XA, ThyGeNEXT + ThyraMIR, and GSC + GEC. Statistical analysis determined the sensitivity, specificity, positive predictive value (PPV), negative predictive value …