Publications by authors named "Pond H"

Background: Project Extension for Community Healthcare Outcomes (ECHO) utilizes telemedicine to connect a multidisciplinary team of experts with a -network of primary care physicians to enable rapid dissemination of evidence-based -guidelines and practices at scale. In this study, the Project ECHO model disseminated the Arizona Pain and Addiction Curriculum to providers in rural Arizona with the goal to educate providers on medication-assisted treatment (MAT).

Methods: Participants engaged in biweekly, virtual teleECHO sessions, and post-session surveys were used to collect data on provider satisfaction, self-efficacy, knowledge, barriers to change, and changes in practice behavior.

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Healthcare managers and clinicians are inefficient in the processes of workflows and documentation. The inefficiency is due in part by increasing demands of insurance companies, regulatory demands from the government, and human error. Artificial intelligence (AI) can improve healthcare processes by decreasing variability, thus improving patient and physician experience and patient outcomes.

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Background: Physical activity (PA) is a cornerstone for the prevention and the treatment of diabetes mellitus (DM) and frailty. However, no consensus exists on which intensities and types of PA are associated with frailty status among individuals living with DM. To investigate the association between different intensities and types of PA on frailty status in males and females living with DM.

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Digging behavior is often used to test motor function and repetitive behaviors in mice. Different digging paradigms have been developed for behaviors related to anxiety and compulsion in mouse lines generated to recapitulate genetic mutations leading to psychiatric and neurological disorders. However, the interpretation of these tests has been confounded by the difficulty of determining the motivation behind digging in mice.

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Background: The prevalence of neurodevelopmental disorders is biased toward male individuals, with male-to-female ratios of 2:1 in intellectual disability and 4:1 in autism spectrum disorder. However, the molecular mechanisms of such bias remain unknown. While characterizing a mouse model for loss of the signaling scaffold coiled-coil and C2 domain-containing protein 1A (CC2D1A), which is mutated in intellectual disability and autism spectrum disorder, we identified biochemical and behavioral differences between male and female mice, and explored whether CC2D1A controls male-specific intracellular signaling.

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Hundreds of genes are mutated in non-syndromic intellectual disability (ID) and autism spectrum disorder (ASD), with each gene often involved in only a handful of cases. Such heterogeneity can be daunting, but rare recessive loss of function (LOF) mutations can be a good starting point to provide insight into the mechanisms of neurodevelopmental disease. Biallelic LOF mutations in the signaling scaffold cause a rare form of autosomal recessive ID, sometimes associated with ASD and seizures.

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Congenital muscular dystrophies display a wide phenotypic and genetic heterogeneity. The combination of clinical, biochemical, and molecular genetic findings must be considered to obtain the precise diagnosis and provide appropriate genetic counselling. Here we report five individuals from four families presenting with variable clinical features including muscular dystrophy with a reduction in dystroglycan glycosylation, short stature, intellectual disability, and cataracts, overlapping both the dystroglycanopathies and Marinesco-Sjögren syndrome.

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Loss-of-function (LOF) mutations in CC2D1A cause a spectrum of neurodevelopmental disorders, including intellectual disability, autism spectrum disorder, and seizures, identifying a critical role for this gene in cognitive and social development. CC2D1A regulates intracellular signaling processes that are critical for neuronal function, but previous attempts to model the human LOF phenotypes have been prevented by perinatal lethality in Cc2d1a-deficient mice. To overcome this challenge, we generated a floxed Cc2d1a allele for conditional removal of Cc2d1a in the brain using Cre recombinase.

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The attachment of a sugar to a hydrophobic polyisoprenyl carrier is the first step for all extracellular glycosylation processes. The enzymes that perform these reactions, polyisoprenyl-glycosyltransferases (PI-GTs) include dolichol phosphate mannose synthase (DPMS), which generates the mannose donor for glycosylation in the endoplasmic reticulum. Here we report the 3.

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Dystroglycan is a transmembrane glycoprotein whose interactions with the extracellular matrix (ECM) are necessary for normal muscle and brain development, and disruptions of its function lead to dystroglycanopathies, a group of congenital muscular dystrophies showing extreme genetic and clinical heterogeneity. Specific glycans bound to the extracellular portion of dystroglycan, α-dystroglycan, mediate ECM interactions and most known dystroglycanopathy genes encode glycosyltransferases involved in glycan synthesis. POMK, which was found mutated in two dystroglycanopathy cases, is instead involved in a glycan phosphorylation reaction critical for ECM binding, but little is known about the clinical presentation of POMK mutations or of the function of this protein in the muscle.

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Three experiments provide evidence that 2 mechanisms, 1 automatic and 1 controlled, produce variations in the efficiency with which local and global forms are processed. Targets are identified faster if they appear at the same level (global or local) as the target on the previous trial. M.

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Target identification is faster when the target level (global or local) is the same as that on the previous trial, presumably because attention is directed to the appropriate level. L. C.

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The prostate cancer detection rate from screening by digital rectal examination and tactilely guided prostate biopsy is approximately 1.7%. Among 1,807 men a detection rate of 14.

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We reviewed 225 men who were followed for 2 to 21 years by periodic rectal examination in an effort to detect prostatic cancer without the glands having been sufficiently suspicious for biopsy to have been recommended. These patients underwent further evaluation with transrectal prostatic ultrasonography and serum prostate specific antigen determinations. When appropriate, ultrasonically guided transrectal needle biopsy of the prostate was performed without analgesia, anesthesia or prophylactic antibiotics.

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A total of 38 patients underwent attempted percutaneous extraction of upper tract calculi with the Wolf nephroscope. A 1-day interval between radiological insertion of the guide wire and extraction of the stone with the patient under general anesthesia was used. Of the stones 87 per cent were removed successfully.

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Children who suffer from chronic medical disorders requiring continuous therapy create threatening situations for parents, which are often acute at diagnosis and may continue over the years. Many parental reactions and consequent emotional interactions with the children are common to all medical handicaps, but also vary with the nature of the particular disease and its treatment. Attitudes of parents to the diagnosis of a chronic handicap or medical disorder will always include some apprehension.

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There is sharp disagreement as to what constitutes the proper surgical approach to localized carcinoma of the prostate. We have performed 31 radical perineal prostatectomies in a six-year period with no mortality and minimal morbidity. Thirteen of these patients were understaged preoperatively and had extraprostatic cancer; however, only one has died from his tumor.

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We anastomosed the intact, undisturbed vesical trigone to the isolated ileal conduit in 24 patients, most of whom have been followed for 5 years. None of these patients has had any pyelographic evidence of upper tract deterioration. There have been no episodes of pyelonephritis, no hydronephrosis, no renal stones and only 4 of the 46 renal units have demonstrated reflux.

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Except for its linkage with the ergot derivatives retroperitoneal fibrosis is a disease of unknown etiology. Two cases in which the traditional surgical approach was used but with the subsequent use of steroids are presented. The third patient was treated with steroids alone.

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