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  • 1
    In: Diabetes Care, American Diabetes Association, Vol. 46, No. 6 ( 2023-06-01), p. 1265-1270
    Abstract: The Rare and Atypical Diabetes Network (RADIANT) will perform a study of individuals and, if deemed informative, a study of their family members with uncharacterized forms of diabetes. RESEARCH DESIGN AND METHODS The protocol includes genomic (whole-genome [WGS], RNA, and mitochondrial sequencing), phenotypic (vital signs, biometric measurements, questionnaires, and photography), metabolomics, and metabolic assessments. RESULTS Among 122 with WGS results of 878 enrolled individuals, a likely pathogenic variant in a known diabetes monogenic gene was found in 3 (2.5%), and six new monogenic variants have been identified in the SMAD5, PTPMT1, INS, NFKB1, IGF1R, and PAX6 genes. Frequent phenotypic clusters are lean type 2 diabetes, autoantibody-negative and insulin-deficient diabetes, lipodystrophic diabetes, and new forms of possible monogenic or oligogenic diabetes. CONCLUSIONS The analyses will lead to improved means of atypical diabetes identification. Genetic sequencing can identify new variants, and metabolomics and transcriptomics analysis can identify novel mechanisms and biomarkers for atypical disease.
    Type of Medium: Online Resource
    ISSN: 0149-5992 , 1935-5548
    Language: English
    Publisher: American Diabetes Association
    Publication Date: 2023
    detail.hit.zdb_id: 1490520-6
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  • 2
    Online Resource
    Online Resource
    Elsevier BV ; 2020
    In:  Endocrine Practice Vol. 26 ( 2020-05), p. 141-142
    In: Endocrine Practice, Elsevier BV, Vol. 26 ( 2020-05), p. 141-142
    Type of Medium: Online Resource
    ISSN: 1530-891X
    Language: English
    Publisher: Elsevier BV
    Publication Date: 2020
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  • 3
    In: Clinical Pediatrics, SAGE Publications, Vol. 58, No. 3 ( 2019-03), p. 349-353
    Abstract: Texas Tech Pediatrics at Northwest Texas Hospital System in Amarillo, Texas, currently practices giving “Mom/Dad of the Day” cards to all new parents, offering the opportunity for fathers to auscultate the newborn heart sound, and encouraging maternal and paternal skin-to-skin contact. New parents were asked to fill out 2 anonymous surveys regarding these practices. Survey results showed statistically significant positive responses by the parents for subjective improvement in fetal sleep and feeding as well as parental confidence and preparedness for taking care of their newborn. Additionally, these practices are desired by parents, with 96% fathers recommending that the hospital routinely offering opportunities for heart auscultation and 94% parents recommending “Mom/Dad of the Day” cards for all future parents in the hospital. Small, nonmedical initiatives such as these are well received and can be feasibly adopted in more hospitals to improve patient quality of care.
    Type of Medium: Online Resource
    ISSN: 0009-9228 , 1938-2707
    Language: English
    Publisher: SAGE Publications
    Publication Date: 2019
    detail.hit.zdb_id: 2066146-0
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  • 4
    In: American Journal of Gastroenterology, Ovid Technologies (Wolters Kluwer Health), Vol. 114, No. 1 ( 2019-10), p. S1548-S1549
    Abstract: Acute pancreatitis (AP) is the 3 rd leading cause of GI related hospitalizations nationwide. In an effort to improve guideline-based care at our institution, we acquired retrospective data from 247 patients admitted to our institution between April 1, 2015 to September 30, 2017 with AP. We identified multiple areas in which to improve care based on the American College of Gastroenterology (ACG) Guidelines: intravenous fluid (IVF) resuscitation, right upper quadrant ultrasound (RUQ-US) use, and antibiotic stewardship in patients admitted with AP. We aimed to increase the percentage of AP patients who receive adequate IVF resuscitation in the first 24 hours from 6.4% to 50%, increase the RUQ-US rate from 59.5% to 80%, and decrease the rate of inappropriate antibiotic use from 24% to 10%, by April 1, 2019. METHODS: Within the internal medicine department, a quality improvement group was assembled. Barriers to implementing guideline-based care within our target areas were identified. We then implemented interventions aimed at improving performance in our three focus areas. The interventions included: house staff education, development and implementation of an AP admission order set within the electronic medical record (EMR), meeting with the emergency department to encourage early fluid resuscitation, distribution of a management flowsheet to house staff work rooms, and the antimicrobial stewardship program (ASP) including patients with AP who meet criteria for inappropriate use (on antibiotics for 〉 48 hours without evidence of intrapancreatic or extrapancreatic infection) in their EMR based communication. We tracked our progress utilizing a real-time patient monitoring software. RESULTS: On April 1, 2019, a total of 35 patients were captured after the start of our interventions. Appropriate IVF resuscitation [defined as 〉 250cc/hr of normal saline or lactated ringers (6L in the 1 st 24 hours)] improved from 6.4% to 20%. RUQ-US obtained on admission improved from 59.5% to 71.4%. Inappropriate antibiotic use decreased from 24% to 11.4%. CONCLUSION: While improvements in appropriate IVF resuscitation, RUQ-US rate, and antibiotic stewardship were noted, we have not yet met our goals. We aim to build on this progress through increased utilization of the AP order set, and the ASP will continue to monitor and intervene for inappropriate antibiotic use in AP patients. We intend to evaluate pre and post intervention 30-day readmission rates and length of stay.
    Type of Medium: Online Resource
    ISSN: 0002-9270 , 1572-0241
    RVK:
    Language: English
    Publisher: Ovid Technologies (Wolters Kluwer Health)
    Publication Date: 2019
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  • 5
    Online Resource
    Online Resource
    The Endocrine Society ; 2022
    In:  Journal of the Endocrine Society Vol. 6, No. Supplement_1 ( 2022-11-01), p. A108-A109
    In: Journal of the Endocrine Society, The Endocrine Society, Vol. 6, No. Supplement_1 ( 2022-11-01), p. A108-A109
    Abstract: Male patients with Congenital Adrenal Hyperplasia (CAH) are at risk of developing testicular adrenal rest tumors (TART). Late presentations are rare and often misdiagnosed as primary testicular germ cell tumors or other more common benign testicular lesions. We describe the case of a patient with CAH and a unilateral testicular tumor with regression in size after initiation of dexamethasone. A 24-year-old male with salt-wasting form of 21-hydroxylase deficiency underwent testicular U/S for evaluation of TART. While aware of a painless firm nodule on the latero-posterior aspect of his left testicle, his main concern was new onset infertility as he had conceived previously. He denied personal or family history of malignancy. Testicular U/S showed a 1.1×0.7×0.8 cm ill-defined, heterogeneously hypoechoic lesion with scattered calcifications and internal vascularity. He was referred to urology to undergo evaluation for possible for testicular cancer. CT abdomen/pelvis showed no evidence of metastatic disease. AFP was less than 2.5 ng/mL (reference range & lt; 9.0 ng/mL), hCG was less than 1.0 mIU/mL (reference range & lt;5.0 mIU/mL), and LDH was 221 U/L (reference range 140-271 U/L). The patient declined surgical intervention at this point and requested medical management. After discussion with the patient, we opted to trial dexamethasone to help suppress the nocturnal surge of ACTH in addition to his physiological dose of prednisone and fludrocortisone for CAH. He was started on 0.25 mg of dexamethasone followed closely with serial imaging and labs. Prior to initiation of dexamethasone, ACTH was 90.3 pg/mL (reference range 7.2–63.3 pg/mL). Two months after initiation of dexamethasone, ACTH decreased to 10.0 pg/mL. LH after initiation of dexamethasone was 8.58 mIU/mL (reference range 1.24–8.62 mIU/mL), FSH was 11.90 (reference range 1.27–19.26 mIU/mL), and testosterone level was 177 ng/dL (reference range 259-818 ng/dL). Testicular U/S six months after starting dexamethasone showed a 50% reduction in size of the heterogeneous hypoechoic left testicular lesion measuring 0.5×0.5×0.4 cm consistent with TART. However, he continued to have concerns regarding infertility, with work-up currently underway. TARTs are thought to arise from aberrant adrenal cells that may descend with the testes during embryogenesis. High ACTH levels in CAH due to lack of negative feedback can cause proliferation of these undifferentiated adrenal cells. Infertility is a predominant symptom due to local mass effect on the testes. Treatment of TART to prevent infertility requires elucidating an optimal steroid regimen that suppresses ACTH production, without suppression of LH and FSH. Moreover, most of the TARTs (around 80%) are bilateral and never malignant. Our patient's testicular tumor poses a diagnostic challenge given the late and atypical presentation of a unilateral tumor. The response to dexamethasone is very reassuring but continued surveillance is warranted. Presentation: Saturday, June 11, 2022 1:00 p.m. - 3:00 p.m.
    Type of Medium: Online Resource
    ISSN: 2472-1972
    Language: English
    Publisher: The Endocrine Society
    Publication Date: 2022
    detail.hit.zdb_id: 2881023-5
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  • 6
    Online Resource
    Online Resource
    Informa UK Limited ; 2023
    In:  Expert Review of Endocrinology & Metabolism Vol. 18, No. 2 ( 2023-03-04), p. 167-179
    In: Expert Review of Endocrinology & Metabolism, Informa UK Limited, Vol. 18, No. 2 ( 2023-03-04), p. 167-179
    Type of Medium: Online Resource
    ISSN: 1744-6651 , 1744-8417
    Language: English
    Publisher: Informa UK Limited
    Publication Date: 2023
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  • 7
    In: Endocrine Practice, Elsevier BV, Vol. 25 ( 2019-04), p. 142-143
    Type of Medium: Online Resource
    ISSN: 1530-891X
    Language: English
    Publisher: Elsevier BV
    Publication Date: 2019
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