Publications by authors named "Avni Shah"

Objectives: To assess utility and accuracy of a gestational age-based screening targeting premature infants to detect congenital hypothyroidism.

Study Design: A prospective cohort study was conducted in infants <35 weeks' gestational age with clinical outcomes at 2-3 years of age. Patients received newborn screenings at 24 hours and 10-14 days of life.

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Introduction: People enrolled in Medicaid managed care who struggle with diabetes control often have complex medical, behavioral, and social needs. Here the authors report the results of a program designed to partner with primary care teams to address those needs.

Methods: A nonprofit organization partnered with a Medicaid managed care plan and a Federally Qualified Health Center in California to enroll people with A1cs 9% in a 12-month program.

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Background And Objective: Type 1 diabetes, the most common cause of diabetes in pediatrics, is defined by the hyperglycemia that results from the permanent autoimmune damage to the pancreas. The Diabetes Control and Complications Trial (DCCT) demonstrated that strict glycemic control targeting lower HbA1c goals can both delay the onset and progression of its complications that include diabetic neuropathy, nephropathy, retinopathy, and increased cardiovascular events. Our primary objective is to review the literature available regarding the technology applied for the treatment of diabetes, not only aiding patients' quality of life but addressing its effects on hypoglycemia and reduced risk of the long-term complications.

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Individuals regularly struggle to save for retirement. Using a large-scale field experiment ( ) in Mexico, we test the effectiveness of several behavioral interventions relative to existing policy and each other geared toward improving voluntary retirement savings contributions. We find that an intervention framing savings as a way to secure one's family future significantly improves contribution rates.

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Purpose: To characterize the significance of patient-level influences, including smoking history, on oncologic outcomes in human papillomavirus (HPV)-mediated oropharyngeal cancer (OPC).

Materials And Methods: A bi-institutional retrospective cohort study of previously untreated, HPV+ OPC patients who underwent curative treatment from 1/1/2008 to 7/1/2018 was performed. The primary outcome was disease-free survival (DFS) and the primary exposure was ≤10 versus >10-pack-year (PY)-smoking history.

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Objectives: Brain MRIs are considered essential in the evaluation of children diagnosed with growth hormone deficiency (GHD), but there is uncertainty about the appropriate cut-off for diagnosis of GHD and little data about the yield of significant abnormal findings in patients with peak growth hormone (GH) of 7-10 ng/mL. We aimed to assess the frequency of pathogenic MRIs and associated risk factors in relation to peak GH concentrations.

Methods: In this retrospective multicenter study, charts of patients diagnosed with GHD who subsequently had a brain MRI were reviewed.

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Background And Objective: To determine the prevalence of retinal disease among a population in Mwanza, Tanzania, and to identify relevant risk factors for retinal disorders in this cohort.

Patients And Methods: A cross-sectional population-based study was conducted in Mwanza, Tanzania, among patients older than 18 years. Participants completed a demographics survey and underwent an ophthalmic examination that included fundus photography.

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Objective: To evaluate the role of serial newborn screening of congenital hypothyroidism using thyroxine (T4) in the neonatal intensive care unit (NICU).

Subjects: Newborn screen results were reviewed from a single academic NICU during 2007-2016 (n = 6100). Thyroid function levels were reviewed in patients treated for hypothyroidism during that period.

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To address knowledge gaps about Turner syndrome (TS) associated disease mechanisms, the Turner Syndrome Society of the United States created the Turner Syndrome Research Registry (TSRR), a patient-powered registry for girls and women with TS. More than 600 participants, parents or guardians completed a 33-item foundational survey that included questions about demographics, medical conditions, psychological conditions, sexuality, hormonal therapy, patient and provider knowledge about TS, and patient satisfaction. The TSRR platform is engineered to allow individuals living with rare conditions and investigators to work side-by-side.

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Purpose: To examine the long-term effect of femtosecond laser-assisted cataract surgery on intraocular pressure (IOP) in healthy (control) and glaucomatous eyes.

Setting: University of Colorado, Aurora, Colorado, and Vanderbilt University, Nashville, Tennessee, USA.

Design: Retrospective case series.

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Purpose: We report our experience with the use of maternally derived serum eye drops as adjunctive treatment in the management of pediatric persistent corneal epithelial defects.

Methods: Five eyes of 4 patients were identified in a retrospective review of pediatric patients with persistent corneal epithelial defects who received maternal serum drops. Diagnoses associated with the defects comprised pontine tegmental cap dysplasia with bilateral cranial nerve V1, V2, V3, and VII palsies; pontine tegmental cap dysplasia with left cranial nerve V1, VII, and VIII palsies; traumatic left cranial nerve II, V1, V2, and VI palsies due to a basilar skull fracture; and Stevens-Johnson syndrome with ocular involvement.

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Purpose: Adolescents with chronic illness face greater risk of psychosocial difficulties, complicating disease management. Despite increased calls to screen for patient-reported outcomes, clinical implementation has lagged. Using quality improvement methods, this study aimed to investigate the feasibility of standardized screening for depression and assessment of global health and to determine recommended behavioral health follow-up, across three pediatric subspecialty clinics.

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Permanent neonatal diabetes (PNDM) is a rare genetic condition characterized by hyperglycemia, insulinopenia, and failure to thrive beginning in the first 6 months of life. Recessive mutations in INS lead to decreased production of insulin via a variety of mechanisms. We present a case of two brothers, born to consanguineous parents, with a novel homozygous intronic variant in the INS gene.

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Background: Declining glycemic control in type 1 diabetes (T1D) during adolescence persists despite treatment advances. Non-adherence, peer relations, diabetes burnout, risk taking, transition to autonomy, family conflict, and poor quality of life (QOL) are recognized barriers. Shared medical appointments (SMAs) in adolescent T1D may offer benefits, but data are limited.

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Importance: Previous studies assessing the effect of metformin on glycemic control in adolescents with type 1 diabetes have produced inconclusive results.

Objective: To assess the efficacy and safety of metformin as an adjunct to insulin in treating overweight adolescents with type 1 diabetes.

Design, Setting, And Participants: Multicenter (26 pediatric endocrinology clinics), double-blind, placebo-controlled randomized clinical trial involving 140 adolescents aged 12.

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Background: Transcatheter pulmonary valve replacement (tPVR) is an accepted therapy for treatment of dysfunctional right ventricular outflow tract (RVOT) conduits. At present, the majority of Fallot patients who undergo transannular patch (TAP) repair are not candidates for tPVR due to the large irregular nature of their RVOT. Herein, we describe a novel approach to assessing the RVOT in this group, which may then be used to design, test, and carry out hybrid RVOT modification and transcatheter valve implantation in this population.

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Despite significant advances in pharmacology and technology, glycemic targets are difficult to achieve for patients with type 1 diabetes (T1D) and management remains burdensome for patients and their families. Quality improvement (QI) science offers a methodology to identify an aim, evaluate complex contributors to the goal, and test potential interventions to achieve outcomes of interest. Day-to-day management of diabetes is often an iterative process but interventions exist at all care levels: individual patient and family, clinic, and larger population and health system.

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Aim: The prevalence of cardiovascular risk factors in children with type 1 diabetes and elevated BMI in the USA is poorly defined. We aimed to test the hypothesis that children with type 1 diabetes who are overweight or obese have increased frequencies of hypertension, dyslipidemia, and micro-/macroalbuminuria compared to their healthy weight peers.

Methods: We studied 11,348 children 2 to <18 years of age enrolled in T1D Exchange between September 2010 and August 2012 with type 1 diabetes for ≥1 year and BMI ≥ 5th age-/sex-adjusted percentile (mean age 12 years, 49 % female, 78 % non-Hispanic White).

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Prediabetes represents an elevation of plasma glucose above the normal range but below that of clinical diabetes. Prediabetes includes individuals with IFG, IGT, IFG with IGT and elevated HbA1c levels. Insulin resistance and β-cell dysfunction are characteristic of this disorder.

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Purpose: To determine the maximum tolerated dose (MTD) of perifosine (NSC 639966), an alkylphospholipid modulator of signal transduction, using different oral loading and maintenance regimens in an effort to avoid gastrointestinal toxicity while seeking maximal sustained plasma concentrations.

Methods: Thirty-one patients with advanced neoplasms were treated with monthly cycles of perifosine loading doses of 300, 600, 900, 1,200 and 1,500 mg (dose levels 1 through 5, respectively) on days 1-2 depending on the actual dose of the initial cycle. For subsequent cycles, perifosine loading doses were reduced to 100, 200, 300, 400 and 1,000 mg at the respective corresponding dose levels.

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Purpose: To describe a case of bilateral optic nerve head drusen (ONHD) in a pediatric patient and the complementary use of advanced noninvasive imaging techniques to confirm this diagnosis.

Case Report: A 15-year-old female adolescent with type 1 diabetes and no ocular history was seen at a routine screening without complaints. Visual acuity was 20/20 bilaterally, and visual fields using frequency doubling technology (Zeiss Humphrey Systems, Dublin, CA) were within normal limits.

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