Browsing by Author "Gohil, Anisha"
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Item 50 Years Ago in The Journal of Pediatrics: Growth in Patients with Gonadal Dysgenesis Receiving Fluoxymesterone(Elsevier, 2019-12) Gohil, Anisha; Fuqua, John S.; Pediatrics, School of MedicineItem 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 A Complicated Case of COVID-19 and Hyperglycemic Hyperosmolar Syndrome in an Adolescent Male(Karger, 2021) Gohil, Anisha; Malin, Stefan; Abulebda, Kamal; Hannon, Tamara S.; Pediatrics, School of MedicineEmerging data demonstrate that comorbid conditions and older age are contributing factors to COVID-19 severity in children. Studies involving youth with COVID-19 and diabetes are lacking. We report the case of a critically ill adolescent male with obesity, type 2 diabetes, and COVID-19 who presented with hyperglycemic hyperosmolar syndrome (HHS). This case highlights a challenge for clinicians in distinguishing severe complications of COVID-19 from those seen in HHS. Youth with obesity and type 2 diabetes may represent a high-risk group for severe COVID-19 disease, an entity that to date has been well-recognized in adults but remains rare in children and adolescents.Item Delayed and Precocious Puberty: Genetic Underpinnings and Treatments(Elsevier, 2020-12) Gohil, Anisha; Eugster, Erica A.; Pediatrics, School of MedicineDelayed puberty may signify a common variation of normal development, or indicate the presence of a pathologic process. Constitutional delay of growth and puberty is a strongly familial type of developmental pattern and accounts for the vast majority of children who are "late bloomers." Individuals with sex chromosomal abnormalities frequently have hypergonadotropic hypogonadism. There are currently 4 known monogenic causes of central precocious puberty. The primary treatment goal in children with hypogonadism is to mimic normal pubertal progression, while the primary aims for the management of precocious puberty are preservation of height potential and prevention of further pubertal development.Item FGF23 and Associated Disorders of Phosphate Wasting(YS Medical Media, 2019-09-01) Gohil, Anisha; Imel, Erik A.; Pediatrics, School of MedicineFibroblast growth factor 23 (FGF23), one of the endocrine fibroblast growth factors, is a principal regulator in the maintenance of serum phosphorus concentration. Binding to its cofactor αKlotho and a fibroblast growth factor receptor is essential for its activity. Its regulation and interaction with other factors in the bone-parathyroid-kidney axis is complex. FGF23 reduces serum phosphorus concentration through decreased reabsorption of phosphorus in the kidney and by decreasing 1,25 dihydroxyvitamin D (1,25(OH)2D) concentrations. Various FGF23-mediated disorders of renal phosphate wasting share similar clinical and biochemical features. The most common of these is X-linked hypophosphatemia (XLH). Additional disorders of FGF23 excess include autosomal dominant hypophosphatemic rickets, autosomal recessive hypophosphatemic rickets, fibrous dysplasia, and tumor-induced osteomalacia. Treatment is challenging, requiring careful monitoring and titration of dosages to optimize effectiveness and to balance side effects. Conventional therapy for XLH and other disorders of FGF23-mediated hypophosphatemia involves multiple daily doses of oral phosphate salts and active vitamin D analogs, such as calcitriol or alfacalcidol. Additional treatments may be used to help address side effects of conventional therapy such as thiazides to address hypercalciuria or nephrocalcinosis, and calcimimetics to manage hyperparathyroidism. The recent development and approval of an anti-FGF23 antibody, burosumab, for use in XLH provides a novel treatment option.Item Growth Hormone Deficiency and Excessive Sleepiness: A Case Report and Review of the Literature(YS Medical Media, 2019-09-17) Gohil, Anisha; Eugster, Erica; Pediatrics, School of MedicineThe somatotropic axis is intricately involved in normal sleep, as evidenced by the fact that hypothalamic growth hormone-releasing hormone (GHRH) has sleep promoting effects and pituitary growth hormone (GH) release is strongly associated with slow-wave sleep (SWS). Abnormalities in the somatotropic axis, such as GH deficiency of hypothalamic or pituitary origin, result in an alteration of normal sleep patterns which may explain the fatigue reported in these individuals. Sleep disorders such as narcolepsy, in which individuals abnormally enter rapid eye movement (REM) sleep at sleep onset are also associated with an altered GHRH circadian rhythm and abnormal GH secretion. While few studies are available, this review explores what is known about sleep abnormalities in GH deficiency, the effect of treatment on sleep in patients with GH deficiency, and GH secretion in narcolepsy. Emerging evidence suggests a hypothalamic link between narcolepsy and GH secretion. We also describe the unique constellation of isolated idiopathic GH deficiency and severe excessive sleepiness in adopted Nicaraguan siblings, one of which has narcolepsy and the other idiopathic hypersomnia.Item Hypocalcemia in a 15 Year Old With New Onset Type 2 Diabetes Mellitus(Oxford University Press, 2021) Becerril Romero, Carlos C.; Schneider Aguirre, Rebecca; Imel, Erik Allen; DiMeglio, Linda A.; Gohil, Anisha; Pediatrics, School of MedicineBackground: Diabetic ketoacidosis and significant hyperglycemia are associated with known electrolyte derangements in sodium, potassium, and phosphorus. Hypocalcemia and hypoparathyroidism occurring in uncontrolled diabetes are rare. We present a case of new-onset diabetes with severe hypocalcemia. Case: A 15-year-old obese Caucasian male with ADHD and autism presented to the Emergency room due to hyperglycemia found on laboratory evaluation for hypertension. Serum glucose was 563 mg/dL, serum bicarbonate 24 meq/L (21 - 31 meq/L), and HgbA1C 11.4% (4.0 - 5.6%). He was admitted to initiate insulin and for diabetes education. On admission, hypocalcemia was noted: serum calcium 6.6 mg/dL (8.5 - 10.5 mg/dL), alkaline phosphatase 352 units/L (48 - 277 units/L), and albumin 4.6 g/dL (3.5 - 5.0 g/dL). Repeat testing revealed serum calcium 5.1 mg/dL, phosphorus 4.3 mg/dL (2.5 - 4.5 mg/dL), and magnesium 1.7 mg/dL (1.6 - 2.9 mg/dL). He endorsed a 2 month history of tetany, paresthesia, and muscle weakness. Due to food aversions, his dietary intake of calcium and vitamin D was minimal. He had limited sun exposure. Subsequent PTH was 40 pg/mL (10 - 65 pg/mL) with concurrent serum calcium of 6.5 mg/dL. QTc was prolonged [529 msec (<440 msec)], prompting transfer to the intensive care unit for telemetry, intravenous calcium gluconate, and regular calcium monitoring. Treatment was commenced with cholecalciferol 2000 international units daily and oral calcium carbonate (50 mg elemental calcium/kg/day) in divided doses for presumed Vitamin D deficiency. After several intravenous calcium gluconate doses over 24 hours, the patient’s QTc and ionized calcium normalized. At discharge, calcium was 8.5 mg/dL. He was discharged on the above regimen of calcium and cholecalciferol, and basal and bolus insulin. After discharge, laboratory results returned indicating negative diabetes autoantibodies (GAD 65, Insulin, IA-2) and 25-OH Vitamin D <10 ng/mL (30 - 100ng/mL). Two days after discharge, calcium was 7.3 mg/dL. Two weeks later, labs were: 25-OH Vitamin D 11.3 ng/mL, PTH 10.4 pg/mL, and calcium 9.6 mg/dL. Conclusion: This teen presented with new-onset type 2 diabetes and symptomatic hypocalcemia, an atypical feature of new-onset diabetes. This patient’s hypocalcemia was likely due to both vitamin D deficiency and hypoparathyroidism. He had a low vitamin D level and poor calcium intake with elevated alkaline phosphatase; however, his high normal serum phosphorus and inappropriately normal PTH (instead of elevated in the setting of severe hypocalcemia) indicated a component of hypoparathyroidism. Calcium normalized with detectable 25-OH Vitamin D levels but PTH remained low. Our case highlights the importance of recognizing both that electrolyte abnormalities at diabetes onset may not be directly attributable to diabetes/hyperglycemia and that vitamin D deficiency and hypoparathyroidism may co-exist.Item Nontraditional School Enrollment in Transgender and Gender-Diverse Youth(Elsevier, 2021) Gohil, Anisha; Donahue, Kelly L.; Eugster, Erica A.; Pediatrics, School of MedicinePurpose: This study aimed to investigate the prevalence of online and homeschool attendance in transgender and gender-diverse (TGD) youth. Methods: Caregivers of 12- to 17-year-olds participated in a phone survey about school attendance. Subjects included TGD youth receiving care in a gender health clinic and youth receiving care in a pediatric endocrinology/diabetes (PED) clinic. Results: Parents of 83 TGD and 83 PED youth participated in the study. Current/past enrollment in a nontraditional school setting was higher among TGD than PED youth (37.3% vs. 19.3%; p = .01). In addition, 14.5% of TGD and 7.2% of PED youth had transferred between traditional school settings (public, private, and charter) for psychosocial reasons. Conclusions: Approximately half of the TGD youth had either attended a nontraditional school setting or changed schools for psychosocial reasons, compared with approximately one fourth of PED youth (51.8% vs. 26.5%, p = .001). This suggests that traditional school environments present significant psychological difficulties for TGD adolescents.Item Poor Sleep and Obesity: Concurrent Epidemics in Adolescent Youth(Frontiers Media, 2018-07-10) Gohil, Anisha; Hannon, Tamara S.; Pediatrics, School of MedicinePoor sleep and obesity are both extraordinarily common in the US adolescent population and often occur simultaneously. This review explores the links between obesity and sleep, outlining what is known about the relationships between sleep characteristics, obesity, and cardiometabolic risk factors in youth. Sleep duration is less than optimal in teens, and decreases as age increases. This is detrimental to overall well-being and is associated with obesity in children, adolescents, and young adults. Accordingly, inadequate sleep duration is associated with poor diet quality, decreased insulin sensitivity, hyperglycemia, and prevalent cardiometabolic risk factors. Evidence suggests that poor sleep quality and altered circadian timing characterized by a preferred later sleep onset, known as "adolescent chronotype," contributes to shortened sleep duration. Obstructive sleep apnea (OSA) occurs more frequently among youth with obesity, and is associated with autonomic nervous system activity promoting higher blood pressure, increased markers of cardiovascular disease risk, and insulin resistance. While there is a clear association between OSA and type 2 diabetes in adults, whether or not this association is prevalent in youth is unclear at this time. Interventions to improve both sleep duration and quality, and obesity in adolescents are scarce and more evidence is needed to determine if such interventions can improve obesity-related health outcomes