Bess A. Marshall

Phase II trial of sodium phenylbutyrate and taurursodiol in Wolfram syndrome

Fumihiko Urano, Bess A. Marshall, Stacy Hurst, Amy Robichaux‐Viehoever et autres

PB&TURSO was associated with improved or stabilized pancreatic function, vision, and overall symptom burden in individuals with Wolfram syndrome, a rare and progressive degenerative disease.

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Evaluating the Use of GLP-1 Receptor Agonists in Wolfram syndrome Patients

Laura Lee, Abby F. Tang, Anna Asako, Sarah Ning et autres

gene, characterized by early-onset diabetes mellitus, optic atrophy, sensorineural hearing loss, arginine vasopressin deficiency, and progressive neurodegeneration. The condition selectively affects pancreatic β cells and neurons via chronic endoplasmic reticulum (ER) stress, and no proven disease-modifying therapy currently exists. Diabetes mellitus is …

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Neurofilament light chain but not glial fibrillary acidic protein serum levels are elevated in Wolfram syndrome

Matthew J. Jansen, Heather M. Lugar, Cris Brown, Abby F. Tang et autres

Background Wolfram syndrome is a rare genetic disorder caused by pathogenic variants in the WFS1 gene. Progressive neurodegeneration, a key feature of the disease, is an important target of current and future clinical trials. Serum neurofilament light chain (NfL) and glial fibrillary …

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Mercury poisoning may mimic pheochromocytoma

Michael E. Mullins, Ansar Ansar, Carleigh Hebbard, Bess A. Marshall

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Mercury Toxicity Mimicking Pheochromocytoma

Aisha Ansar, Kyle P. McNerney, Bess A. Marshall, Carleigh Hebbard et autres

Mercury intoxication can cause hypertension in children and mimic pheochromocytoma. We present an 8-year-old girl who presented with night sweats, intractable myalgias, hypertension, and tachycardia. Her electrocardiogram showed sinus tachycardia, and her echocardiogram was normal. Her electrolytes, creatinine, and urinalysis were normal. …

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-Week Results from the HELIOS Trial: A Phase 2, Open-Label Study Evaluating an Oral, Fixed-Dose Combination of Sodium Phenylbutyrate and Taurursodiol in Wolfram Syndrome

Fumihiko Urano, Bess A. Marshall, Stacy Hurst, Amy Viehoever et autres

Evaluating Young Children With Fractures for Child Abuse: Clinical Report

Suzanne B. Haney, Susan A. Scherl, Linda A. DiMeglio, Jeannette M. Pérez-Rosselló et autres

Fractures are common injuries in childhood and can be caused by unintentional injury, medical conditions, and child abuse. Although the consequences of failing to diagnose an abusive injury in a child can be grave, the consequences of incorrectly diagnosing child abuse in …

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7439 Mercury toxicity presenting as Pheochromocytoma

Aisha Ansar, Kyle P. McNerney, Bess A. Marshall

Abstract Disclosure: A. Ansar: None. K. McNerney: None. B.A. Marshall: None. Background: Mercury intoxication is a rare cause of hypertension in children and can mimic other endocrinopathies such as pheochromocytoma. Mercury affects catecholamine metabolism and can cause elevated catecholamine levels, thereby incorrectly …

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Qualitative Exploration of the “Guilt Gap” Among Physician-Faculty with Caregiving Responsibilities

Jamie Takayesu, Lauren A. Szczygiel, Rochelle D. Jones, Lydia Perry et autres

Introduction: Differences in time commitments and resources contribute to the difficulties of work–life integration for many physician-scientists, particularly for women with family caregiving responsibilities. Understanding the challenges faced by this population is critical for the retention of these critical members of the …

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Genotype and clinical characteristics of patients with Wolfram syndrome and WFS1-related disorders

Evan M. Lee, Megha Verma, Nila Palaniappan, Emiko M. Pope et autres

Objective: Wolfram syndrome (WFS) is an autosomal recessive disorder associated with juvenile-onset diabetes mellitus, optic atrophy, diabetes insipidus, and sensorineural hearing loss. We sought to elucidate the relationship between genotypic and phenotypic presentations of Wolfram syndrome which would assist clinicians in classifying …

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Genotype and Clinical Characteristics of Patients with Wolfram Syndrome and WFS1-related Disorders

Evan M. Lee, Megha Verma, Nila Palaniappan, Emiko M. Pope et autres

Objective: Wolfram syndrome (WFS) is an autosomal recessive disorder associated with juvenile-onset diabetes mellitus, optic atrophy, diabetes insipidus, and sensorineural hearing loss. We sought to elucidate the relationship between genotypic and phenotypic presentations of Wolfram syndrome which would assist clinicians in classifying …

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Congenital Hypothyroidism: Screening and Management

Susan R. Rose, Ari J. Wassner, Kupper A. Wintergerst, Nana-Hawa Yayah-Jones et autres

Untreated congenital hypothyroidism (CH) leads to intellectual disabilities. Newborn screening (NBS) for CH should be performed in all infants. Prompt diagnosis by NBS leading to early and adequate treatment results in grossly normal neurocognitive outcomes in adulthood. However, NBS for hypothyroidism is …

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