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Browsing by Author "Nebesio, Todd D."
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Item Acute Peroneal Neuropathy and Foot Drop in Two Adolescent Female Athletes with New-Onset Diabetes(Wolters Kluwer, 2022-02) Jaeger, Joel A.; Gohil, Anisha; Nebesio, Todd D.; Pediatrics, School of MedicineThe common peroneal nerve is derived from the sciatic nerve. It travels superficially along the lateral aspect of the knee near the fibular head where it bifurcates into the superficial and deep peroneal nerves. These nerves also provide sensation to the lateral lower leg and dorsal foot. The superficial and deep peroneal nerves innervate the muscles of the lateral lower leg and anterior lower leg compartments, respectively. Loss of the soft tissue and subcutaneous fat pad that surrounds and cushions the peroneal nerve near the fibular head leaves it susceptible to injury (1). This can affect the common peroneal nerve or either of its two branches, the deep or superficial peroneal nerves (2). Damage to the nerve by stretching or compression may result in loss of sensation and motor function, resulting in foot drop (3). Acute peroneal neuropathy in the context of rapid weight loss (also known as “slimmer's paralysis”) has been reported in prisoners of war, extreme dieting, and after bariatric surgery (2,4). It also is more common in individuals who habitually cross their legs (2). While seen less commonly than in adults, acute peroneal neuropathy also has been reported in children and adolescents (5). Etiologies in this age group include direct trauma, entrapment from bone tumors, compression from casting, and rapid weight loss (5,6). Causes of sudden and quick weight loss may be due to crash dieting and anorexia nervosa (6). There also are rare reports of slimmer's paralysis being caused by rapid weight loss from untreated type 1 diabetes (7,8). In this report, we present two active adolescent female athletes who presented with ankle pain or weakness that was ultimately due to acute peroneal nerve neuropathy associated with substantial and fast weight loss from undiagnosed type 1 diabetes.Item A brother and sister with the same karyotype: Case report of two siblings with partial 3p duplication and partial 9p deletion and sex reversal(Wiley, 2021-05-06) Selby, Susan Cordes; Iwata-Otsubo, Aiko; Delk, Paula; Nebesio, Todd D.; Gohil, Anisha; Matlock, Peggy; Torres-Martinez, Wilfredo; Vance, Gail H.; Medical and Molecular Genetics, School of MedicineTwo siblings with the same male unbalanced karyotype demonstrate sex reversal. The older sib appeared phenotypically female and the younger sib demonstrated a male gender. The female had gonadal dysgenesis with bilateral ovatestes. The male had bilateral testes. The report discusses the phenotypical differences and genes associated with sex reversal.Item Diagnosis of adrenal insufficiency in eosinophilic esophagitis: The importance of timing of cortisol measurements in interpreting low-dose adrenocorticotropic hormone stimulation testing(Elsevier, 2016-07) Schoelwer, Melissa J.; Nebesio, Todd D.; Pediatrics, School of MedicineComment on Adrenal Insufficiency after Chronic Swallowed Glucocorticoid Therapy for Eosinophilic Esophagitis. [J Pediatr. 2016]Item Differential effects of hydrocortisone, prednisone, and dexamethasone on hormonal and pharmacokinetic profiles: a pilot study in children with congenital adrenal hyperplasia(BioMed Central, 2016) Nebesio, Todd D.; Renbarger, Jamie L.; Nabhan, Zeina M.; Ross, Sydney E.; Slaven, James E.; Li, Lang; Walvoord, Emily C.; Eugster, Erica A.; Department of Pediatrics, IU School of MedicineBACKGROUND: Little is known about the comparative effects of different glucocorticoids on the adrenal and growth hormone (GH) axes in children with congenital adrenal hyperplasia (CAH). We sought to compare the effects of hydrocortisone (HC), prednisone (PDN), and dexamethasone (DEX) in children with classic CAH and to investigate a potential role of pharmacogenetics. METHODS: Subjects were randomly assigned to three sequential 6-week courses of HC, PDN, and DEX, each followed by evaluation of adrenal hormones, IGF-1, GH, and body mass index (BMI). Single nucleotide polymorphism (SNP) analysis of genes in the glucocorticoid pathway was also performed. RESULTS: Nine prepubertal subjects aged 8.1 ± 2.3 years completed the study. Mean ACTH, androstenedione, and 17-hydroxyprogesterone (17-OHP) values were lower following the DEX arm of the study than after subjects received HC (p ≤ 0.016) or PDN (p ≤ 0.002). 17-OHP was also lower after HC than PDN (p < 0.001). There was no difference in IGF-1, GH, or change in BMI. SNP analysis revealed significant associations between hormone concentrations, pharmacokinetic parameters, and variants in several glucocorticoid pathway genes (ABCB1, NR3C1, IP013, GLCCI1). CONCLUSIONS: DEX resulted in marked adrenal suppression suggesting that its potency relative to hydrocortisone and prednisone was underestimated. SNPs conferred significant differences in responses between subjects. Although preliminary, these pilot data suggest that incorporating pharmacogenetics has the potential to eventually lead to targeted therapy in children with CAH.Item Endocrine Effects of Inhaled Corticosteroids in Children(JAMA, 2016-02) Kapadia, Chirag R.; Nebesio, Todd D.; Myers, Susan E.; Willi, Steven; Miller, Bradley S.; Allen, David B.; Jacobson-Dickman, Elka; Department of Pediatrics, IU School of MedicineInhaled corticosteroids (ICSs) are widely used as first-line treatment for various chronic respiratory illnesses. Advances in devices and formulations have reduced their local adverse effects. However, as delivery of ICSs to the lungs improves, the systemic absorption increases, and an adverse effect profile similar to, although milder than, oral corticosteroids has emerged. The most serious potential adverse effect is adrenal insufficiency, which can be life threatening. Adrenal insufficiency occurs most in patients taking the highest doses of ICSs but is reported with moderate or even low doses as well. Our recommendations include greater vigilance in testing adrenal function than current standard practice. In patients with diabetes mellitus (types 1 and 2), an increase in glucose levels is likely, and diabetes medication adjustment may be needed when initiating or increasing ICSs. The risk of linear growth attenuation and adverse effects on bone mineral density is generally low but should be considered in the face of additional risk factors. On behalf of the Pediatric Endocrine Society Drugs and Therapeutics Committee, we present a review of the endocrine adverse effects of ICSs in children and offer recommendations relating to testing and referral. Limited data in particular realms diminish the strength of certain recommendations, and clinical judgment continues to be paramount.Item Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency(PNAS, 2014-12-16) Balasubramanian, Ravikumar; Choi, Jin-Ho; Francescatto, Ludmila; Willer, Jason; Horton, Edward R.; Asimacopoulos, Eleni P.; Stankovic, Konstantina M.; Plummer, Lacey; Buck, Cassandra L.; Quinton, Richard; Nebesio, Todd D.; Mericq, Veronica; Merino, Paulina M.; Meyer, Brian F.; Monies, Dorota; Gusella, James F.; Al Tassanj, Nada; Katsanis, Nicholas; Crowley Jr., William F.; Department of Pediatrics, IU School of MedicineInactivating mutations in chromodomain helicase DNA binding protein 7 (CHD7) cause CHARGE syndrome, a severe multiorgan system disorder of which Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is a minor feature. Recent reports have described predominantly missense CHD7 alleles in IGD patients, but it is unclear if these alleles are relevant to causality or overall genetic burden of Kallmann syndrome (KS) and normosmic form of IGD. To address this question, we sequenced CHD7 in 783 well-phenotyped IGD patients lacking full CHARGE features; we identified nonsynonymous rare sequence variants in 5.2% of the IGD cohort (73% missense and 27% splice variants). Functional analyses in zebrafish using a surrogate otolith assay of a representative set of these CHD7 alleles showed that rare sequence variants observed in controls showed no altered function. In contrast, 75% of the IGD-associated alleles were deleterious and resulted in both KS and normosmic IGD. In two families, pathogenic mutations in CHD7 coexisted with mutations in other known IGD genes. Taken together, our data suggest that rare deleterious CHD7 alleles contribute to the mutational burden of patients with both KS and normosmic forms of IGD in the absence of full CHARGE syndrome. These findings (i) implicate a unique role or preferential sensitivity for CHD7 in the ontogeny of GnRH neurons, (ii) reiterate the emerging genetic complexity of this family of IGD disorders, and (iii) demonstrate how the coordinated use of well-phenotyped cohorts, families, and functional studies can inform genetic architecture and provide insights into the developmental biology of cellular systems.Item Patient and Parent Perspectives on Testicular Adrenal Rest Tumors in Congenital Adrenal Hyperplasia(Karger, 2023-10) Nebesio, Todd D.; Kim, Mimi S.; Szymanski, Konrad M.; Kokorowski, Paul J.; Geffner, Mitchell E.; Eugster, Erica A.; on behalf of the Life with Congenital Adrenal Hyperplasia Study Group; Pediatrics, School of MedicineBackground: Testicular adrenal rest tumors (TARTs) increase the risk of infertility in males with classic congenital adrenal hyperplasia (CAH). There is no consensus regarding at what age screening testicular ultrasounds should begin and how often they should be repeated. Furthermore, it is unknown whether patients and parents are aware of the significance of TARTs. Objective: The objective of the study was to investigate awareness, concern, and screening rates for TARTs in males with classic CAH. Methods: Males with CAH and parents completed an online questionnaire from 2019 to 2020. Responses to questions about TARTs were analyzed. Fisher’s exact test was used to determine statistical significance. Results: Of 123 responders, 14 were males with CAH (range 16–54 years) and 109 were parents of males with CAH (son’s age range infancy to 37 years). Of all responders, 74% were concerned about the possibility of TARTs, 48% had discussions about TARTs with their endocrinologist, and 42% were aware of possible infertility in males with CAH. There was no difference between responses provided by affected males and parents for these topics (p ≥ 0.08). Among male responders with CAH, 93% had at least one testicular ultrasound, and 77% had undergone more than one. Among parent responders, 30% of their sons had at least one testicular ultrasound, and 61% had more than one. The frequency, total number, and age when the first testicular ultrasound was obtained were inconsistent in both groups. Fifty percent of male responders with CAH and 11% of sons were referred to a urologist for evaluation. Conclusions: Although most responders were concerned about TARTs, less than half recalled discussing this issue with their endocrinologist, and less than half were aware of the possibility of infertility. Although TARTs are most often treated medically, several responders were referred to a urologist. Standardized patient education and consensus guidelines are needed for the surveillance and management of TARTs in males with classic CAH.Item Pediatric toxic polycystic thyroid(De Gruyter, 2017-07) Belle, Janeil M.; Vasilottos, Nektarios; Nebesio, Todd D.; James, Benjamin C.; Surgery, School of MedicineBackground: Polycystic thyroid disease (PCTD) is a rare condition and has been described in adults in the setting of subclinical and clinical hypothyroidism. We present the first known case of a pediatric patient with diffuse macrocystic degeneration of the thyroid. Clinical presentation: A 6-year-old previously healthy patient was evaluated after presenting with a 16-month history of an enlarging polycystic thyroid and hyperthyroidism. Markers of autoimmune thyroid disease including thyroid stimulating immunoglobulin (TSI), thyroid stimulating hormone (TSH) receptor antibody, thyroid peroxidase antibody and thyroglobulin antibody were negative. No family history of benign or malignant thyroid or cystic disease was present. The patient underwent a total thyroidectomy without perioperative complication. She remains euthyroid with thyroid hormone replacement therapy. Summary: To our knowledge, this is the first report of PCTD in the pediatric population associated with hyperthyroidism without evidence of autoimmune disease. Somatic activating thyrotropin-receptor gene mutations are known to cause non-autoimmune hyperthyroidism in children, however it is unknown if similar mechanisms are responsible for pediatric PCTD. Conclusions: Polycystic thyroid degeneration can occur in children and may result in a hyperthyroid state.Item Prevalence of Nephrocalcinosis in Pseudohypoparathyroidism: Is Screening Necessary?(Elsevier, 2018-08) Hansen, David W.; Nebesio, Todd D.; DiMeglio, Linda A.; Eugster, Erica A.; Imel, Erik A.; Pediatrics, School of MedicineThe prevalence of nephrocalcinosis in persons with pseudohypoparathyroidism has not been systematically examined. We conducted a retrospective study of renal imaging and biochemical results in 19 patients with pseudohypoparathyroidism with 49 imaging assessments. No cases of nephrocalcinosis were identified. Routine screening for nephrocalcinosis in pseudohypoparathyroidism may not be necessary.