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Full-Text Articles in Medicine and Health Sciences
Attenuation Of Autoimmune Phenomena In A Patient With Autoimmune Polyglandular Syndrome Type 1., Jill Jacobson, Julia Broussard, Courtney Marsh, Brandon D. Newell
Attenuation Of Autoimmune Phenomena In A Patient With Autoimmune Polyglandular Syndrome Type 1., Jill Jacobson, Julia Broussard, Courtney Marsh, Brandon D. Newell
Manuscripts, Articles, Book Chapters and Other Papers
Autoimmune polyglandular syndrome type 1 (APS1) is a progressive life-threatening illness with no known cure. Current treatments involve replacement of the hormone deficiencies that result from autoimmune destruction of multiple endocrine organs. We report on a girl whose disease was progressing rapidly until she began on immunosuppressive agents. A healthy 6-year-old girl with no remarkable medical history presented with new onset hypocalcemic seizures and primary hypoparathyroidism. Howell-Jolly bodies consistent with autoimmune hyposplenism were also noted. Genetic testing revealed compound heterozygosity for 2 disease-associated variants in the autoimmune regulator (AIRE) gene. She later developed elevated liver enzymes, primary adrenal insufficiency, and …
Longitudinal Associations Between Family Conflict, Parent Engagement, And Metabolic Control In Children With Recent-Onset Type 1 Diabetes., Hannah Case, David D. Williams, Shideh Majidi, Diana Ferro, Mark A. Clements, Susana R. Patton
Longitudinal Associations Between Family Conflict, Parent Engagement, And Metabolic Control In Children With Recent-Onset Type 1 Diabetes., Hannah Case, David D. Williams, Shideh Majidi, Diana Ferro, Mark A. Clements, Susana R. Patton
Manuscripts, Articles, Book Chapters and Other Papers
Introduction: We prospectively investigated the associations between diabetes-related family conflict, parent engagement in child type 1 diabetes (T1D) care, and child glycated hemoglobin (HbA1c) in 127 families of school-age children who we recruited within the first year of their T1D diagnosis.
Research design and methods: Parents completed the Diabetes Family Conflict Scale-Revised (DFCS-R) to assess for diabetes-related family conflict and the Diabetes Self-Management Questionnaire-Brief (DSMQ-Brief) to assess parent engagement in child T1D care at the initial study visit (T1) and at 12 (T2) and 27 (T3) months later. We also collected child HbA1c at these time points. Our analyses included …
Sirolimus Therapy And Follow-Up In A Patient With Severe Congenital Hyperinsulinism Following Subtotal Pancreatectomy, Qiong Chen, Yongxing Chen, Xiaohong Wang, Haihua Yang, Yingxian Zhang, Xiaojing Liu, Yun Yan, Haiyan Wei
Sirolimus Therapy And Follow-Up In A Patient With Severe Congenital Hyperinsulinism Following Subtotal Pancreatectomy, Qiong Chen, Yongxing Chen, Xiaohong Wang, Haihua Yang, Yingxian Zhang, Xiaojing Liu, Yun Yan, Haiyan Wei
Manuscripts, Articles, Book Chapters and Other Papers
Congenital hyperinsulinism (CHI) is the most common cause of severe, persistent hypoglycemia in neonates and infants. If the patient does not respond to medical treatment the currently available treatment is subtotal pancreatectomy, but some patients still experience severe hypoglycemia after surgery. Sirolimus, a mammalian target of rapamycin inhibitor has recently been reported to be effective in the treatment of insulinoma and CHI patients. Here we report a patient with CHI who had prolonged hypoglycemia after subtotal pancreatectomy. The patient had a heterozygous mutation in ABCC8 but was unresponsive to an optimal dose of diazoxide (15 mg/ kg/day) and octreotide (30 …
Recent Advances Of Integrative Bio-Omics Technologies To Improve Type 1 Diabetes (T1d) Care, Nisha Karwal, Megan Rodrigues, David D. Williams, Ryan Mcdonough, Diana Ferro
Recent Advances Of Integrative Bio-Omics Technologies To Improve Type 1 Diabetes (T1d) Care, Nisha Karwal, Megan Rodrigues, David D. Williams, Ryan Mcdonough, Diana Ferro
Manuscripts, Articles, Book Chapters and Other Papers
Type 1 diabetes (T1D) is a complex autoimmune disease that currently cannot be cured, only managed. Optimal treatment the of T1D symptoms, requires a multidisciplinary care team, including endocrinologists, educators, primary care providers, health care specialists, genetic counselors, and data scientists. This review summarizes how an integrative approach to T1D drives innovation and quality improvements in health care. Specifically, we highlight how “-omics” technologies facilitate the understanding of different aspects of the disease, including prevention, pathogenesis, diagnostics, and treatment. Furthermore, we explore how biological data can be combined with personal and electronic health records to tailor medical interventions to the …
Thyrotoxic Periodic Paralysis In An Adolescent Male: A Case Report And Literature Review., Luke He, Veronica Lawrence, Wayne V. Moore, Yun Yan
Thyrotoxic Periodic Paralysis In An Adolescent Male: A Case Report And Literature Review., Luke He, Veronica Lawrence, Wayne V. Moore, Yun Yan
Manuscripts, Articles, Book Chapters and Other Papers
Thyrotoxic periodic paralysis (TPP) is rarely seen in children and adolescents. Clinical manifestations in children and adolescents may vary. It is important for clinicians to be aware of this rare and life-threatening condition.