Publications by authors named "S G Friedenberg"

In heme degradation, biliverdin reductase catalyzes the conversion of biliverdin to bilirubin. Defects in the biliverdin reductase A gene () causing biliverdinuria are extraordinarily rare in humans, and this inborn error of metabolism has not been reported in other mammals. The objective of this study was to diagnose biliverdinuria and identify the causal variants in two adult mixed-breed dogs with life-long green urine.

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Background: Headaches, including migraines, are one of the most common causes of disability and account for nearly 20%-30% of referrals from primary care to neurology. In primary care, electronic health record-based alerts offer a mechanism to influence health care provider behaviors, manage neurology referrals, and optimize headache care.

Objective: This project aimed to evaluate the impact of an electronic alert implemented in primary care on patients' overall headache management.

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Background: The demand for neurology services exceeds the current supply. We convened multiple stakeholders to learn what drives our primary care providers (PCPs) to refer patients with headache to our neurology practice. This information guided a collaborative effort to evaluate the impact of an electronic health record (EHR) headache tool on care delivery in our PCP clinics.

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CD4 T cells are an integral component of the adaptive immune response, carrying out many functions to combat a diverse range of pathogenic challenges. These cells exhibit remarkable plasticity, differentiating into specialized subsets such as T helper type 1 (T1), T2, T9, T17, T22, regulatory T cells (Tregs), and follicular T helper (T) cells. Each subset is capable of addressing a distinct immunological need ranging from pathogen eradication to regulation of immune homeostasis.

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Mucocele formation in dogs is a unique and enigmatic muco-obstructive disease of the gallbladder caused by the amassment of abnormal mucus that bears striking pathological similarity to cystic fibrosis. We investigated the role of cystic fibrosis transmembrane conductance regulatory protein (CFTR) in the pathogenesis of this disease. The location and frequency of disease-associated variants in the coding region of CFTR were compared using whole genome sequence data from 2,642 dogs representing breeds at low-risk, high-risk, or with confirmed disease.

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