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Pituitary Stalk Interruption Syndrome Presenting In A Euthyroid Adult With Short Stature, Atif Nawaz, Muhammad Azeemuddin, Jehanzeb Shahid

Department of Radiology

Pituitary stalk interruption syndrome (PSIS) is a distinct and rare clinical entity responsible for congenital hypopituitarism resulting in deficiency of pituitary hormones with deficiency of the growth hormone (100%) and gonadotropins (97.2%) being its most common presentation at the time of hospital encounter (Wang et al., 2015). Isolated sparing of thyroid-stimulating hormone (TSH) with deficiency of the remaining anterior pituitary hormones may be present in PSIS, as is true in our case. Therefore, it should be kept in mind at the time of examination in suspected cases of PSIS.

An Intracellular Activation Of Smoothened That Is Independent Of Hedgehog Stimulation In Drosophila, Kai Jiang, Yajuan Liu, Jie Zhang, Jianhang Jia

Markey Cancer Center Faculty Publications

Smoothened (Smo), a GPCR family protein, plays a critical role in the reception and transduction of Hedgehog (Hh) signal. Smo is phosphorylated and activated on the cell surface; however, it is unknown whether Smo can be intracellularly activated. Here, we demonstrate that inactivation of the ESCRT-III causes dramatic accumulation of Smo in the ESCRT-III/MVB compartment, and subsequent activation of Hh signaling. In contrast, inactivation of ESCRTs 0–II induces mild Smo accumulation in the ESCRT-III/MVB compartment. We provide evidence that Kurtz (Krz), the Drosophila β-arrestin2, acts in parallel with the ESCRTs 0-II pathway to sort Smo to the multivesicular bodies and …

Demographics And Cardiovascular Risk Factors In A Bi-Ethnic Church-Based Intervention: Baseline Results Of The Stroke Health And Risk Education (Share) Project, Lesli Skolarus

Journal of Health Disparities Research and Practice

Objectives: Hispanics have a higher incidence of cardiovascular disease (CVD) than non-Hispanic whites (NHWs). Despite proven benefits in other minority populations, few interventions have been conducted in partnership with Churches with substantial Hispanic membership. In this context, we describe the baseline demographics and CVD risk factors among participants of a bi-ethnic Catholic Church-based CVD prevention trial.

Methods: The Stroke Health and Risk Education (SHARE) project was a cluster-randomized, multi-component, faith-based, behavioral intervention that enrolled Mexican Americans (MAs) and NHWs from Catholic Churches in Corpus Christi, Texas. Strategies to ensure MA recruitment included bilingual staff and materials and partnership with Catholic …

Erk-Mediated Phosphorylation Regulates Sox10 Sumoylation And Targets Expression In Mutant Braf Melanoma., Shujun Han, Yibo Ren, Wangxiao He, Huadong Liu, Zhe Zhi, Xinliang Zhu, Tielin Yang, Yu Rong, Bohan Ma, Timothy J. Purwin, Zhenlin Ouyang, Caixia Li, Xun Wang, Xueqiang Wang, Huizi Yang, Yan Zheng, Andrew E. Aplin, Jiankang Liu, Yongping Shao

Department of Cancer Biology Faculty Papers

In human mutant BRAF melanoma cells, the stemness transcription factor FOXD3 is rapidly induced by inhibition of ERK1/2 signaling and mediates adaptive resistance to RAF inhibitors. However, the mechanism underlying ERK signaling control of FOXD3 expression remains unknown. Here we show that SOX10 is both necessary and sufficient for RAF inhibitor-induced expression of FOXD3 in mutant BRAF melanoma cells. SOX10 activates the transcription of FOXD3 by binding to a regulatory element in FOXD3 promoter. Phosphorylation of SOX10 by ERK inhibits its transcription activity toward multiple target genes by interfering with the sumoylation of SOX10 at K55, which is essential for …

Differential Impact Of Rb Status On E2f1 Reprogramming In Human Cancer., Christopher Mcnair, Kexin Xu, Amy C. Mandigo, Matteo Benelli, Benjamin E. Leiby, Daniel Rodrigues, Johan Lindberg, Henrik Gronberg, Mateus Crespo, Bram De Laere, Luc Dirix, Tapio Visakorpi, Fugen Li, Felix Y. Feng, Johann De Bono, Francesca Demichelis, Mark A. Rubin, Myles Brown, Karen E. Knudsen

Department of Cancer Biology Faculty Papers

The tumor suppressor protein retinoblastoma (RB) is mechanistically linked to suppression of transcription factor E2F1-mediated cell cycle regulation. For multiple tumor types, loss of RB function is associated with poor clinical outcome. RB action is abrogated either by direct depletion or through inactivation of RB function; however, the basis for this selectivity is unknown. Here, analysis of tumor samples and cell-free DNA from patients with advanced prostate cancer showed that direct RB loss was the preferred pathway of disruption in human disease. While RB loss was associated with lethal disease, RB-deficient tumors had no proliferative advantage and exhibited downstream effects …

Factors Associated With Low Birthweight In Term Pregnancies: A Matched Case–Control Study From Rural Pakistan, Atif Habib, Camille R. Greenow, Shabina Arif, Sajid Bashir Soofi, Abid Hussain, Qamar Junejo, A Hussain, Fariha Shaheen, Kirsten I. Black

Department of Obstetrics & Gynaecology

Low birthweight (LBW) remains a significant public health problem in Pakistan and further understanding of factors associated with LBW is required. We conducted a hospital-based matched case control study to identify risk factors associated with LBW in a rural district of Pakistan. We found that illiteracy (AOR: 2.68; 95% CI: 1.59 - 4.38), nulliparity (AOR: 1.82; 95% CI: 1.26-2.44), having a previous miscarriage/abortion (AOR: 1.22; 95% CI: 1.06-2.35), having < 2 antenatal care (ANC) visits during last pregnancy (AOR: 2.43; 95% CI: 1.34-2.88), seeking ANC in third trimester (AOR: 3.62; 95% CI : 2.14-5.03), non-use of iron folic acid during last pregnancy (AOR: 2.72; 95% CI: 1.75-3.17), having hypertension during last pregnancy (AOR: 1.42; 95% CI: 1.13-2.20), being anemic (AOR: 2.67; 95% CI: 1.65-5.24) and having postpartum weight of <45 kg (AOR: 3.30; 95% CI : 1.97-4.52) were significantly associated with an increased odds of having a LBW baby. Our study identifies modifiable risk factors requiring immediate commitment from the health authorities.

Patients And Animal Models Of Cngβ1-Deficient Retinitis Pigmentosa Support Gene Augmentation Approach., Simon M Petersen-Jones, Laurence M. Occelli, Paige A. Winkler, Winston Lee, Janet R Sparrow, Mai Tsukikawa, Sanford L. Boye, Vince Chiodo, Jenina E. Capasso, Elvir Becirovic, Christian Schön, Mathias W. Seeliger, Alex V. Levin, Stylianos Michalakis, William W. Hauswirth, Stephen H. Tsang

Wills Eye Hospital Papers

Retinitis pigmentosa (RP) is a major cause of blindness that affects 1.5 million people worldwide. Mutations in cyclic nucleotide-gated channel β 1 (CNGB1) cause approximately 4% of autosomal recessive RP. Gene augmentation therapy shows promise for treating inherited retinal degenerations; however, relevant animal models and biomarkers of progression in patients with RP are needed to assess therapeutic outcomes. Here, we evaluated RP patients with CNGB1 mutations for potential biomarkers of progression and compared human phenotypes with those of mouse and dog models of the disease. Additionally, we used gene augmentation therapy in a CNGβ1-deficient dog model to evaluate potential translation …

Division Of Research, Unm Department Of Orthopaedic Surgery

UNM Orthopaedic Research Journal

No abstract provided.

Pelvic Ring Emergency Stabilization System (Press), Christina Salas, Thomas R. Howdieshell, Rachel Tufaro, Lauren Long, Ava K. Mauser, Aneesha Kondapi, Sherif H. Aboubakr

UNM Orthopaedic Research Journal

Pelvic ring fractures can be lethal owing to the potential for hemodynamic instability or arterial hemorrhage when the pelvic volume is increased. Pelvic binders are the standard of care used to provide circumferential compression to the pelvis, reducing the volume and increasing the intra-pelvic pressure. While commercially available options have been shown to provide adequate stability to the unstable pelvis, the circumferential nature of the binders limits access to the abdomen and groin regions, where accessibility is often necessary during the course of emergency treatment. We introduce a new technology known as the Pelvic Ring Emergency Stabilization System (PRESS). The …

Anxiety Reduction Among Washington County Jail Inmates: A Community Service Project, Tyler J. Back, Laura Bakke, Daniel Cuppy

All Electronic Theses and Dissertations

The general principle of anxiety has been thoroughly studied in many populations and shown to have variable underlying etiology, partially related to abnormalities in brain chemistry as well as unfamiliar or uncomfortable social situations. The role of environmental factors pertaining to anxiety is the particular interest of this community service project, to which the research team and the staff of the Washington County Jail have focused the efforts of this community service project in improving and reducing anxiety levels among Washington County Jail inmates.The research team and the staff of the Washington County Jail identified the use of pharmacologic agents …

A Community Outreach Project Assisting Evergreen Elementary School With Students’ Nutritional Needs, Robin C. Erickson, Nicole Roach, Megan Smith

All Electronic Theses and Dissertations

Nine months out of the year, students within the United States attend elementary school to be educated on English, mathematics, history, and other topics. The Anoka- Hennepin School District’s philosophy of an elementary education highlights many important factors for success in school but neglects to highlight nutrition as one of the factors. The purpose of our community outreach project is aimed at reducing the stress of hunger for the students at Evergreen Elementary School (EES) by implementing a food drive. Through the food drive, the project team members were able to collect various donations including food, clothing items, and hygiene …

Interpersonal Violence And Suicidality Among Former Child Soldiers And War-Exposed Civilian Children In Nepal., Anvita Bhardwaj, Christine Bourey, Sauharda Rai, Ramesh Prasad Adhikari, Carol M Worthman, Brandon A Kohrt

Psychiatry and Behavioral Sciences Faculty Publications

Background: Suicide risk reduction is crucial for 15-29-year-old youth, who account for 46% of suicide deaths in low- and middle-income countries. Suicide predictors in high-resource settings, specifically depression, do not adequately predict suicidality in these settings. We explored if interpersonal violence (IPV) was associated with suicidality, independent of depression, in Nepal.

Methods: A longitudinal cohort of child soldiers and matched civilian children, enrolled in 2007 after the People's War in Nepal, were re-interviewed in 2012. The Depression Self-Rating Scale and Composite International Diagnostic Interview assessed depression and suicidality, respectively. Non-verbal response cards were used to capture experiences of sexual and …

Why West? Comparisons Of Clinical, Genetic And Molecular Features Of Infants With And Without Spasms., Anne T Berg, Samya Chakravorty, Sookyong Koh, Zachary M Grinspan, Renée A Shellhaas, William D Gaillard, +Several Additional Authors

Neurology Faculty Publications

Infantile spasms are the defining seizures of West syndrome, a severe form of early life epilepsy with poorly-understood pathophysiology. We present a novel comparative analysis of infants with spasms versus other seizure-types and identify clinical, etiological, and molecular-genetic factors preferentially predisposing to spasms. We compared ages, clinical etiologies, and associated-genes between spasms and non-spasms groups in a multicenter cohort of 509 infants (

Mutation Patterns Identify Adult Patients With De Novo Acute Myeloid Leukemia Aged 60 Years Or Older Who Respond Favorably To Standard Chemotherapy: An Analysis Of Alliance Studies, A. K. Eisfeld, J. Kohlschmidt, K. Mrózek, J. S. Blachly, C. J. Walker, D. Nicolet, S. Orwick, S. E. Maharry, J. E. Kolitz, C. D. Bloomfield, +6 Additional Authors

Journal Articles

© 2018 Macmillan Publishers Limited, part of Springer Nature. Thus far, only 5-15% of AML patients aged ≥60 years are cured with chemotherapy. Identification of patients who are less (more) likely to respond to standard chemotherapy might enable early risk stratification toward alternative treatment regimens. We used a next-generation sequencing panel of 80 cancer- and/or leukemia-associated genes to profile molecularly 423 older patients with de novo AML. Using variables identified in multivariable models and co-occurring mutations in NPM1-mutated AML, we classified the patients into good-, intermediate-, and poor-risk groups for complete remission (CR) attainment, disease-free (DFS), and overall survival (OS). …

Oral Curcumin For Radiation Dermatitis: A Urcc Ncorp Study Of 686 Breast Cancer Patients, J. R. Wolf, C. E. Heckler, J. J. Guido, A. R. Peoples, J. S. Gewandter, M. Ling, V. P. Vinciguerra, T. Anderson, L. Evans, G. R. Morrow, +2 Additional Authors

Journal Articles

No abstract provided.

Phyto-Polyphenols As Potential Inhibitors Of Breast Cancer Metastasis, D. Avtanski, L. Poretsky

Journal Articles

No abstract provided.

Hemoglobin Response To Ferric Citrate In Patients With Nondialysis-Dependent Chronic Kidney Disease And Iron Deficiency Anemia, P. E. Pergola, S. Fishbane, R. D. Lewinter, J. F. Neylan, K. Uhlig, G. A. Block, G. M. Chertow

Journal Articles

No abstract provided.

Development Of A Molecular Signature To Monitor Pharmacodynamic Responses Mediated By In Vivo Administration Of Glucocorticoids, Y. Hu, J. A. Carman, D. Holloway, S. Kansal, L. Fan, C. Goldstine, D. Lee, J. E. Somerville, R. Furie, S. G. Nadler, +7 Additional Authors

Journal Articles

© 2018 American College of Rheumatology. Objective: To develop an objective, readily measurable pharmacodynamic biomarker of glucocorticoid (GC) activity. Methods: Genes modulated by prednisolone were identified from in vitro studies using peripheral blood mononuclear cells from normal healthy volunteers. Using the criteria of a >2-fold change relative to vehicle controls and an adjusted P value cutoff of less than 0.05, 64 up-regulated and 18 down-regulated genes were identified. A composite score of the up-regulated genes was generated using a single-sample gene set enrichment analysis algorithm. Results: GC gene signature expression was significantly elevated in peripheral blood leukocytes from normal healthy …

The Intersection Of Financial Toxicity And Family Building In Young Adult Cancer Survivors, B. Thom, C. Benedict, D. N. Friedman, J. F. Kelvin

Journal Articles

No abstract provided.

Bi-Specific And Tri-Specific Antibodies- The Next Big Thing In Solid Tumor Therapeutics, K. Runcie, D. R. Budman, V. John, N. Seetharamu

Journal Articles

No abstract provided.

Development And Validation Of A Scoring System To Predict Outcomes Of Vedolizumab Treatment In Patients With Crohn's Disease, P. S. Dulai, B. S. Boland, S. Singh, K. Chaudrey, J. L. Koliani-Pace, G. Kochhar, M. P. Parikh, K. Sultan, A. Swaminath, C. Cao, +26 Additional Authors

Journal Articles

No abstract provided.

Genome-Wide Association Study Identifies An Acute Myeloid Leukemia Susceptibility Locus Near Bicra, C. J. Walker, C. C. Oakes, L. K. Genutis, B. Giacopelli, S. Liyanarachchi, D. Nicolet, A. K. Eisfeld, M. Scholz, J. E. Kolitz, C. D. Bloomfield, +12 Additional Authors

Journal Articles

No abstract provided.

Improvement In Parameters Of Hematologic And Immunologic Function And Patient Well-Being In The Phase Iii Resonate Study Of Ibrutinib Versus Ofatumumab In Patients With Previously Treated Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma., J. C. Barrientos, S. O'Brien, J. R. Brown, N. E. Kay, N. M. Reddy, S. Coutre, C. Tam, S. Mulligan, U. Jaeger, P. Hillmen, +18 Additional Authors

Journal Articles

BACKGROUND: Ibrutinib compared with ofatumumab significantly improves progression-free and overall survival in patients with previously treated chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL).

PATIENTS AND METHODS: Measures of well-being were assessed in RESONATE, where previously treated patients with CLL/SLL were randomized to receive ibrutinib 420 mg/day (n = 195) or ofatumumab (n = 196) for up to 24 weeks. Endpoints included hematologic function, Functional Assessment of Chronic Illness Therapy-Fatigue (FACIT-F), disease-related symptoms, European Organization for Research and Treatment of Cancer Quality of Life Questionnaires Core 30 (EORTC QLQ-C30), and medical resource utilization.

RESULTS: With up to 24 months' follow-up (median, 16.4 …

Somatic Mutations And Clonal Hematopoiesis In Congenital Neutropenia, J. Xia, C. A. Miller, J. Baty, A. Ramesh, M. R. Jotte, R. S. Fulton, T. P. Vogel, M. A. Cooper, A. Vlachos, D. C. Link, +11 Additional Authors

Journal Articles

© 2018 by The American Society of Hematology. Severe congenital neutropenia (SCN) and Shwachman-Diamond syndrome (SDS) are congenital neutropenia syndromes with a high rate of leukemic transformation. Hematopoietic stressors may contribute to leukemic transformation by increasing the mutation rate in hematopoietic stem/progenitor cells (HSPCs) and/or by promoting clonal hematopoiesis. We sequenced the exome of individual hematopoietic colonies derived from 13 patients with congenital neutropenia to measure total mutation burden and performed error-corrected sequencing on a panel of 46 genes on 80 patients with congenital neutropenia to assess for clonal hematopoiesis. An average of 3.6 ± 1.2 somatic mutations per exome …

High Levels Of Dek Autoantibodies In Sera Of Patients With Polyarticular Juvenile Idiopathic Arthritis And With Early Disease Flares Following Cessation Of Anti–Tumor Necrosis Factor Therapy, N. Mor-Vaknin, M. Rivas, M. Legendre, S. Mohan, Y. Yuanfan, T. Mau, A. Johnson, B. Huang, B. S. Gottlieb, D. M. Markovitz, +17 Additional Authors

Journal Articles

© 2017 The Authors. Arthritis & Rheumatology published by Wiley Periodicals, Inc. on behalf of American College of Rheumatology. Objective: The nuclear oncoprotein DEK is an autoantigen associated with juvenile idiopathic arthritis (JIA), especially the oligoarticular subtype. DEK is a secreted chemotactic factor. Abundant levels of DEK and DEK autoantibodies are found in inflamed synovium in JIA. We undertook this study to further characterize the nature of DEK autoantibodies in screening serum samples from 2 different cohorts that consisted mostly of patients with JIA. Methods: DEK autoantibody levels were analyzed in sera from 33 JIA patients, 13 patients with other …

Long Ncrna Landscape In The Ileum Of Treatment-Naive Early-Onset Crohn Disease., Y. Haberman, M. Benshoshan, A. Di Segni, P. J. Dexheimer, T. Braun, B. Weiss, T. D. Walters, R. N. Baldassano, J. Markowitz, L. A. Denson, +27 Additional Authors

Journal Articles

Long noncoding RNAs (lncRNA) are key regulators of gene transcription and many show tissue-specific expression. We previously defined a novel inflammatory and metabolic ileal gene signature in treatment-naive pediatric Crohn disease (CD). We now extend our analyses to include potential regulatory lncRNA.Using RNAseq, we systematically profiled lncRNAs and protein-coding gene expression in 177 ileal biopsies. Co-expression analysis was used to identify functions and tissue-specific expression. RNA in situ hybridization was used to validate expression. Real-time polymerase chain reaction was used to test lncRNA regulation by IL-1β in Caco-2 enterocytes.We characterize widespread dysregulation of 459 lncRNAs in the ileum of CD …

Effects Of Soybean Lipid Infusion On Triglyceride And Unbound Free Fatty Acid Levels In Preterm Infants, T. Hegyi, A. Kleinfeld, A. Huber, B. Weinberger, N. Memon, W. Joe Shih, M. Carayannopoulos, W. Oh

Journal Articles

© 2018 Informa UK Limited, trading as Taylor & Francis Group Objective: To determine the plasma triglyceride (TG) and unbound free fatty acid (FFAu) levels in infants treated with increasing dosages of soybean lipid, intralipid (IL), infusion. Study design: TG and FFAu levels were measured in 78 preterm infants (BW 500–2000 g; GA 23–34 weeks) using the fluorescent probe ADIFAB2 and enzymatic method. Results: The infants’ BW was 1266.2 ± 440.7 g and GA 28.8 ± 3.1 weeks. TG levels were 77.4 ± 50 mg/dL, 140.2 ± 188 mg/dL (p < .04 compared to levels during low dose IL infusion) and 135.6 ± 118 mg/dL (p < .004), respectively during increased IL rates. FFAu levels were 17.7 ± 13 nM, 47.3 ± 102.8 nM (p = .07) and 98 ± 234 nM (p = .03). TG levels correlated with IL dose, the rate of IL administration, and FFAu levels. TG and FFAu levels were higher in infants below 28 weeks’ gestation Conclusions: Increasing dosage of IL is associated with increasing levels of TG and FFAu, especially in infants below 29 weeks of gestation. The increased level of FFAu suggests inefficient cellular utilization.

Serologic Reactivity Reflects Clinical Expression Of Ulcerative Colitis In Children, E. A. Spencer, S. M. Davis, D. R. Mack, B. M. Boyle, A. M. Griffiths, N. S. Leleiko, C. G. Sauer, D. J. Keljo, J. F. Markowitz, M. C. Dubinsky, +26 Additional Authors

Journal Articles

© 2018 Crohn's & Colitis Foundation. Published by Oxford University Press. All rights reserved. Background In contrast to pediatric Crohn's disease (CD), little is known in pediatric ulcerative colitis (UC) about the relationship between disease phenotype and serologic reactivity to microbial and other antigens. Aim The aim of this study was to examine disease phenotype and serology in a well-characterized inception cohort of children newly diagnosed with UC during the PROTECT Study (Predicting Response to Standardized Pediatric Colitis Therapy). Methods Patients were recruited from 29 participating centers. Demographic, clinical, laboratory, and serologic (pANCA, ASCA IgA/IgG, Anti-CBir1, and Anti-OmpC) data were …

Exome Chip Analyses Identify Genes Affecting Mortality After Hla-Matched Unrelated-Donor Blood And Marrow Transplantation, Q. Zhu, L. Yan, Q. Liu, C. Zhang, L. Wei, Q. Hu, L. Preus, A. I. Clay-Gilmour, K. Onel, L. E. Sucheston-Campbell, +10 Additional Authors

Journal Articles

© 2018 by The American Society of Hematology Although survival outcomes have significantly improved, up to 40% of patients die within 1 year of HLA-matched unrelated-donor blood and marrow transplantation (BMT). To identify non-HLA genetic contributors to mortality after BMT, we performed the first exome-wide association study in the DISCOVeRY-BMT cohorts using the Illumina HumanExome BeadChip. This study includes 2473 patients with acute myeloid leukemia, acute lymphoblastic leukemia, or myelodysplastic syndrome and 2221 10/10 HLA-matched donors treated from 2000 to 2011. Single-variant and gene-level analyses were performed on overall survival (OS), transplantation-related mortality (TRM), and disease-related mortality (DRM). Genotype mismatches …

A 6-Month, Multicenter, Open-Label Study Of Fixed Dose Naproxen/Esomeprazole In Adolescent Patients With Juvenile Idiopathic Arthritis, D. J. Lovell, J. A. Dare, M. Francis-Sedlak, J. Ball, B. D. Lamoreaux, E. Von Scheven, A. Reinhardt, R. Jerath, B. Gottlieb, R. J. Holt, +6 Additional Authors

Journal Articles

© 2018 The Author(s). Background: Juvenile idiopathic arthritis (JIA) is an inflammatory arthritis of unknown etiology, which lasts for greater than 6 weeks with onset before 16 years of age. JIA is the most common chronic rheumatic disease in children. NSAIDs have been the mainstay of initial management with naproxen (NAP) being commonly used, but they may cause serious side effects such as gastric ulcers which can be reduced by concomitant administration of proton pump inhibitors, such as esomeprazole (ESO). Methods: Primary objective was to evaluate the safety and tolerability of 3 fixed doses of NAP/ESO in JIA patients aged …