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https://www.readbyqxmd.com/read/29135508/new-histologic-finding-of-amyloid-insulin-bodies-at-an-insulin-injection-site-in-a-patient-with-diabetes
#1
Benjamin D Katzman, Peter Traum, Paul B Medline
Amyloidosis is a heterogeneous group of protein deposition diseases with more than 40 known clinical presentations. Localized amyloidosis occurs when the protein deposits exist in a singular location. Patients with diabetes mellitus who inject insulin at the same site can develop localized insulin-derived amyloidosis (AIns) at the injection site, which can be confused clinically with lipoma, lipohyperplasia, lipoatrophy, and fat necrosis. Histologic examination is performed to confirm localized AIns. We report a case of a patient with a long history of type 2 diabetes who presented with a subcutaneous mass in the abdomen at a preferred insulin injection site...
November 7, 2017: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/29127259/whole-exome-sequencing-of-patients-with-steroid-resistant-nephrotic-syndrome
#2
Jillian K Warejko, Weizhen Tan, Ankana Daga, David Schapiro, Jennifer A Lawson, Shirlee Shril, Svjetlana Lovric, Shazia Ashraf, Jia Rao, Tobias Hermle, Tilman Jobst-Schwan, Eugen Widmeier, Amar J Majmundar, Ronen Schneider, Heon Yung Gee, J Magdalena Schmidt, Asaf Vivante, Amelie T van der Ven, Hadas Ityel, Jing Chen, Carolin E Sadowski, Stefan Kohl, Werner L Pabst, Makiko Nakayama, Michael J G Somers, Nancy M Rodig, Ghaleb Daouk, Michelle Baum, Deborah R Stein, Michael A Ferguson, Avram Z Traum, Neveen A Soliman, Jameela A Kari, Sherif El Desoky, Hanan Fathy, Martin Zenker, Sevcan A Bakkaloglu, Dominik Müller, Aytul Noyan, Fatih Ozaltin, Melissa A Cadnapaphornchai, Seema Hashmi, Jeffrey Hopcian, Jeffrey B Kopp, Nadine Benador, Detlef Bockenhauer, Radovan Bogdanovic, Nataša Stajić, Gil Chernin, Robert Ettenger, Henry Fehrenbach, Markus Kemper, Reyner Loza Munarriz, Ludmila Podracka, Rainer Büscher, Erkin Serdaroglu, Velibor Tasic, Shrikant Mane, Richard P Lifton, Daniela A Braun, Friedhelm Hildebrandt
BACKGROUND AND OBJECTIVES: Steroid-resistant nephrotic syndrome overwhelmingly progresses to ESRD. More than 30 monogenic genes have been identified to cause steroid-resistant nephrotic syndrome. We previously detected causative mutations using targeted panel sequencing in 30% of patients with steroid-resistant nephrotic syndrome. Panel sequencing has a number of limitations when compared with whole exome sequencing. We employed whole exome sequencing to detect monogenic causes of steroid-resistant nephrotic syndrome in an international cohort of 300 families...
November 10, 2017: Clinical Journal of the American Society of Nephrology: CJASN
https://www.readbyqxmd.com/read/28893421/whole-exome-sequencing-frequently-detects-a-monogenic-cause-in-early-onset-nephrolithiasis-and%C3%A2-nephrocalcinosis
#3
Ankana Daga, Amar J Majmundar, Daniela A Braun, Heon Yung Gee, Jennifer A Lawson, Shirlee Shril, Tilman Jobst-Schwan, Asaf Vivante, David Schapiro, Weizhen Tan, Jillian K Warejko, Eugen Widmeier, Caleb P Nelson, Hanan M Fathy, Zoran Gucev, Neveen A Soliman, Seema Hashmi, Jan Halbritter, Margarita Halty, Jameela A Kari, Sherif El-Desoky, Michael A Ferguson, Michael J G Somers, Avram Z Traum, Deborah R Stein, Ghaleb H Daouk, Nancy M Rodig, Avi Katz, Christian Hanna, Andrew L Schwaderer, John A Sayer, Ari J Wassner, Shrikant Mane, Richard P Lifton, Danko Milosevic, Velibor Tasic, Michelle A Baum, Friedhelm Hildebrandt
The incidence of nephrolithiasis continues to rise. Previously, we showed that a monogenic cause could be detected in 11.4% of individuals with adult-onset nephrolithiasis or nephrocalcinosis and in 16.7-20.8% of individuals with onset before 18 years of age, using gene panel sequencing of 30 genes known to cause nephrolithiasis/nephrocalcinosis. To overcome the limitations of panel sequencing, we utilized whole exome sequencing in 51 families, who presented before age 25 years with at least one renal stone or with a renal ultrasound finding of nephrocalcinosis to identify the underlying molecular genetic cause of disease...
September 8, 2017: Kidney International
https://www.readbyqxmd.com/read/28599372/a-hybrid-machine-learning-model-to-predict-and-visualize-nitrate-concentration-throughout-the-central-valley-aquifer-california-usa
#4
Katherine M Ransom, Bernard T Nolan, Jonathan A Traum, Claudia C Faunt, Andrew M Bell, Jo Ann M Gronberg, David C Wheeler, Celia Z Rosecrans, Bryant Jurgens, Gregory E Schwarz, Kenneth Belitz, Sandra M Eberts, George Kourakos, Thomas Harter
Intense demand for water in the Central Valley of California and related increases in groundwater nitrate concentration threaten the sustainability of the groundwater resource. To assess contamination risk in the region, we developed a hybrid, non-linear, machine learning model within a statistical learning framework to predict nitrate contamination of groundwater to depths of approximately 500m below ground surface. A database of 145 predictor variables representing well characteristics, historical and current field and landscape-scale nitrogen mass balances, historical and current land use, oxidation/reduction conditions, groundwater flow, climate, soil characteristics, depth to groundwater, and groundwater age were assigned to over 6000 private supply and public supply wells measured previously for nitrate and located throughout the study area...
December 1, 2017: Science of the Total Environment
https://www.readbyqxmd.com/read/28596500/the-tumor-suppressor-rassf1a-induces-the-yap1-target-gene-ankrd1-that-is-epigenetically-inactivated-in-human-cancers-and-inhibits-tumor-growth
#5
Adriana P Jiménez, Annalena Traum, Thomas Boettger, Holger Hackstein, Antje M Richter, Reinhard H Dammann
The Hippo pathway regulates organ size, growth and comprises several tumor related factors, including the oncoprotein YAP1 and the tumor suppressor RASSF1A. RASSF1A is frequently epigenetically inactivated in cancer. In our study, we analyzed the effect of RASSF1A on the function of YAP1. Expression of YAP1 resulted in the downregulation of several tumor suppressor genes and induction of S-phase. Co-expression with RASSF1A normalized the expression levels of these tumor suppressors and induced a G0-G1 arrest and apoptosis...
May 23, 2017: Oncotarget
https://www.readbyqxmd.com/read/28261895/bilateral-native-nephrectomy-reduces-systemic-oxalate-level-after-combined-liver-kidney-transplant-a-case-report
#6
Vincenzo Villani, Neena Gupta, Nahel Elias, Parsia A Vagefi, James F Markmann, Elahna Paul, Avram Z Traum, Heidi Yeh
Primary hyperoxaluria type 1 (PH1) is a rare liver enzymatic defect that causes overproduction of plasma oxalate. Accumulation of oxalate in the kidney and subsequent renal failure are fatal to PH1 patients often in pediatric age. Combined liver and kidney transplantation is the therapy of choice for end-stage renal disease due to PH1. Levels of plasma oxalate remain elevated for several months after liver transplantation, as the residual body oxalate is slowly excreted. Patients with persistent hyperoxaluria after transplant often require hemodialysis, and accumulation of residual oxalate in the kidney can induce graft dysfunction...
May 2017: Pediatric Transplantation
https://www.readbyqxmd.com/read/28131239/immune-and-inflammatory-biomarkers-in-cases-of-bovine-perinatal-mortality-with-and-without-infection-in-utero
#7
Paulina Jawor, Tadeusz Stefaniak, John F Mee
The objective of this study was to compare acute-phase protein [serum amyloid A (SAA) and haptoglobin (Hp)] and immunoglobulin G1 and M concentrations in blood plasma of cases of bovine perinatal mortality due to infection in utero or traumotocia and in unexplained cases. Plasma samples were collected from 110 stillborn calves with bacterial infection (INF_B, n = 16), with viral or parasitic infection (INF_V/P, n = 31) during pregnancy, with lesions of fatal traumotocia (TRAUM, n = 22), and from unexplained deaths (UNEXPL, n = 41)...
February 2017: Journal of Dairy Science
https://www.readbyqxmd.com/read/27732837/single-cell-mass-cytometry-analysis-of-the-human-endocrine-pancreas
#8
Yue J Wang, Maria L Golson, Jonathan Schug, Daniel Traum, Chengyang Liu, Kumar Vivek, Craig Dorrell, Ali Naji, Alvin C Powers, Kyong-Mi Chang, Markus Grompe, Klaus H Kaestner
The human endocrine pancreas consists of multiple cell types and plays a critical role in glucose homeostasis. Here, we apply mass cytometry technology to measure all major islet hormones, proliferative markers, and readouts of signaling pathways involved in proliferation at single-cell resolution. Using this innovative technology, we simultaneously examined baseline proliferation levels of all endocrine cell types from birth through adulthood, as well as in response to the mitogen harmine. High-dimensional analysis of our marker protein expression revealed three major clusters of beta cells within individuals...
October 11, 2016: Cell Metabolism
https://www.readbyqxmd.com/read/27511911/21st-century-twist-on-cullen-s-sign-new-generation-anticoagulants-and-splenic-traum
#9
Amarvir Bilkhu, Frances Mosley, Jay A Gokhale
New anticoagulants such as Rivaroxaban have become a popular choice for patients needing anticoagulation for atrial fibrillation or venous thromboembolism, chiefly because anticoagulation is maintained without the need for monitoring. This can be problematic in cases of trauma, and in this article, we discuss the management and outcome of managing an elderly patient with a shattered spleen while on Rivaroxaban.
2016: Journal of Surgical Case Reports
https://www.readbyqxmd.com/read/27210862/the-effects-of-dorso-lumbar-motion-restriction-on-the-ground-reaction-force-components-during-running
#10
Joseph J Morley, Edward Traum
PURPOSE: The effects of restricting dorso-lumbar spine mobility on ground reaction forces in runners was measured and assessed. METHODS: A semi-rigid cast was used to restrict spinal motion during running. Subjects ran across a force platform at 3.6 m/s, planting the right foot on the platform. Data was collected from ten running trials with the cast and ten without the cast and analysed. RESULTS: Casted running showed that the initial vertical heel strike maximum was increased (p < ...
April 2016: Journal of Bodywork and Movement Therapies
https://www.readbyqxmd.com/read/26684441/hepatitis-b-virus-specific-and-global-t-cell-dysfunction-in-chronic-hepatitis-b
#11
MULTICENTER STUDY
Jang-June Park, David K Wong, Abdus S Wahed, William M Lee, Jordan J Feld, Norah Terrault, Mandana Khalili, Richard K Sterling, Kris V Kowdley, Natalie Bzowej, Daryl T Lau, W Ray Kim, Coleman Smith, Robert L Carithers, Keith W Torrey, James W Keith, Danielle L Levine, Daniel Traum, Suzanne Ho, Mary E Valiga, Geoffrey S Johnson, Edward Doo, Anna S F Lok, Kyong-Mi Chang
BACKGROUND & AIMS: T cells play a critical role in viral infection. We examined whether T-cell effector and regulatory responses can define clinical stages of chronic hepatitis B (CHB). METHODS: We enrolled 200 adults with CHB who participated in the National Institutes of Health-supported Hepatitis B Research Network from 2011 through 2013 and 20 uninfected individuals (controls). Peripheral blood lymphocytes from these subjects were analyzed for T-cell responses (proliferation and production of interferon gamma and interleukin 10) to overlapping hepatitis B virus (HBV) peptides (preS, S, preC, core, and reverse transcriptase), influenza matrix peptides, and lipopolysaccharide...
March 2016: Gastroenterology
https://www.readbyqxmd.com/read/26535130/erratum-to-a-case-of-b-cell-acute-lymphoblastic-leukemia-in-a-child-with-down-syndrome-bearing-a-t-2-12-p12-p13-involving-etv6-and-biallelic-igh-rearrangements
#12
Carlos A Tirado, David Shabsovich, Yeun Kim, Peter Traum, Sheeja Pullarkat, Michael Kallen, Nagesh Rao
[This corrects the article DOI: 10.1186/s40364-015-0036-1.].
2015: Biomarker Research
https://www.readbyqxmd.com/read/26462958/management-and-closure-of-the-open-abdomen-after-damage-control-laparotomy-for-trauma-a-systematic-review-and-meta-analysis
#13
REVIEW
A E Sharrock, T Barker, H M Yuen, R Rickard, N Tai
INTRODUCTION: Damage control laparotomy for trauma (DCL) entails immediate control of haemorrhage and contamination, temporary abdominal closure (TAC), a period of physiological stabilisation, then definitive repair of injuries. Although immediate primary fascial closure is desired, fascial retraction and visceral oedema may dictate an alternate approach. Our objectives were to systematically identify and compare methods for restoration of fascial continuity when primary closure is not possible following DCL for trauma, to simplify these into a standardised map, and describe the ideal measures of process and outcome for future studies...
February 2016: Injury
https://www.readbyqxmd.com/read/26203356/a-case-of-b-cell-acute-lymphoblastic-leukemia-in-a-child-with-down-syndrome-bearing-a-t-2-12-p12-p13-involving-etv6-and-biallelic-igh-rearrangements
#14
Carlos A Tirado, David Shabsovich, Yeun Kim, Peter Traum, Sheeja Pullarkat, Michael Kallen, Nagesh Rao
BACKGROUND: Rearrangements involving ETV6 (12p13) are among the most common structural abnormalities in pediatric B-cell acute lymphoblastic leukemia (B-ALL) and involve numerous partner genes. Additionally, the t(8;14)(q11.2;q32), which can result in the placement of CEBPD (8q11.2) near the regulatory regions of IGH@ (14q32) and consequent overexpression of CEPBD, occurs at a higher frequency in individuals with Down syndrome-associated ALL (DS-ALL) compared to both the general and pediatric population...
2015: Biomarker Research
https://www.readbyqxmd.com/read/25805007/a-novel-method-of-esophageal-lengthening-in-a-large-animal-model-of-long-gap-esophageal-atresia
#15
Veronica F Sullins, Peter K Traum, Samuel W French, Benjamin M Wu, James C Y Dunn, Steven L Lee
PURPOSE: Long gap esophageal atresia remains a significant treatment challenge. We aimed to create the first large animal model of long gap esophageal atresia to test a degradable esophageal lengthening device. METHODS: The distal esophagus was divided 2 cm above the gastroesophageal junction in 6 minipigs. A polycaprolactone (PCL) spring device was secured inside the distal esophageal segment, and the end was oversewn. Nonexpanding PCL tubes served as controls...
June 2015: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/25286777/core-needle-biopsy-is-a-safe-and-accurate-initial-diagnostic-procedure-for-suspected-lymphoma
#16
Brian M Nguyen, Chelsea Halprin, Yuliya Olimpiadi, Peter Traum, James J Yeh, Christine Dauphine
BACKGROUND: Excisional biopsy is currently recommended for the analysis of lymphadenopathy suspicious for lymphoma. This study aims to evaluate the efficacy and safety of image-guided core needle biopsy (IGCNB) for the diagnosis of lymphoma using a standard protocol for tissue acquisition and analysis. METHODS: All IGCNBs from 2008 to 2014 performed under the study protocol were included in analysis. Demographics, pathology results, additional studies, and follow-up information were recorded...
December 2014: American Journal of Surgery
https://www.readbyqxmd.com/read/24377821/granulomatous-interstitial-nephritis-as-a-manifestation-of-crohn-disease
#17
Robert B Colvin, Avram Z Traum, Diana Taheri, Mohsen Jafari, Shahaboddin Dolatkhah
Granulomatous interstitial nephritis is a rare extraintestinal manifestation of Crohn disease that has been described previously in 4 patients. We report a 23-year-old man with a history of Crohn disease since age 6 years who was admitted to the hospital for weight loss, fever, and bloody diarrhea in the midst of a recent flare up during the past 2 months. Investigations revealed anemia, high erythrocyte sedimentation rate, high C-reactive protein level, and an elevated serum creatinine level. Histopathologic examination of tissue specimens obtained at renal biopsy demonstrated granulomatous interstitial nephritis...
January 2014: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/24123776/sensenbrenner-syndrome-cranioectodermal-dysplasia-clinical-and-molecular-analyses-of-39-patients-including-two-new-patients
#18
REVIEW
Angela E Lin, Avram Z Traum, Inderneel Sahai, Kim Keppler-Noreuil, Mary K Kukolich, Margaret P Adam, Sjirk J Westra, Heleen H Arts
Sensenbrenner syndrome, also known as cranioectodermal dysplasia, is a rare multiple anomaly syndrome with distinctive craniofacial appearance, skeletal, ectodermal, connective tissue, renal, and liver anomalies. Dramatic advances with next-generation sequencing have expanded its phenotypic variability and molecular heterogeneity. We review 39 patients including two new patients, one with compound heterozygous novel mutations in WDR35 and a previously unreported multisutural craniosynostosis that may be a part of Sensenbrenner syndrome...
November 2013: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/23963758/myocardial-tissue-remodeling-in-adolescent-obesity
#19
Ravi V Shah, Siddique A Abbasi, Tomas G Neilan, Edward Hulten, Otavio Coelho-Filho, Alison Hoppin, Lynne Levitsky, Sarah de Ferranti, Erinn T Rhodes, Avram Traum, Elizabeth Goodman, Henry Feng, Bobak Heydari, William S Harris, Daniel M Hoefner, Joseph P McConnell, Ravi Seethamraju, Carsten Rickers, Raymond Y Kwong, Michael Jerosch-Herold
BACKGROUND: Childhood obesity is a significant risk factor for cardiovascular disease in adulthood. Although ventricular remodeling has been reported in obese youth, early tissue-level markers within the myocardium that precede organ-level alterations have not been described. METHODS AND RESULTS: We studied 21 obese adolescents (mean age, 17.7±2.6 years; mean body mass index [BMI], 41.9±9.5 kg/m(2), including 11 patients with type 2 diabetes [T2D]) and 12 healthy volunteers (age, 15...
August 2013: Journal of the American Heart Association
https://www.readbyqxmd.com/read/23886644/alcoholic-liver-disease-patients-treated-with-s-adenosyl-l-methionine-an-in-depth-look-at-liver-morphologic-data-comparing-pre-and-post-treatment-liver-biopsies
#20
RANDOMIZED CONTROLLED TRIAL
Mary D Le, Elena Enbom, Peter K Traum, Valentina Medici, Charles H Halsted, Samuel W French
BACKGROUND: The objective of this study is to assess if there were any changes in liver biopsies after treatment with S-adenosyl-L-methionine(SAMe) in alcoholic liver disease patients. METHODS: Liver biopsies of 14 patients were randomized for SAMe treatment at week 0 (biopsy #1) and at 24 weeks (biopsy #2). Patients received 1.2g of SAMe or placebo by mouth daily and stopped alcohol intake. Biopsies were semi-quantitatively scored for: steatosis, inflammation, necrosis, fibrosis, apoptosis by TUNEL stain, percent fibrosis per square field, smooth muscle actin stain, Kupffer cells, polymorphonuclear leukocytes, lipogranules, lymphocytes, balloon cell formation, Mallory-Denk bodies, and duct metaplasia...
October 2013: Experimental and Molecular Pathology
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