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Nelson syndrome

Scott Seaman, Paul Nelson, Jacob Alexander, Andrew Swift, James Fick
The authors present the case of a 53-year-old man who was referred with disabling retching provoked by left arm abduction. At the time of his initial evaluation, a cervical MRI study was available for review and revealed an anatomical variation of the ipsilateral juxtamedullary vertebrobasilar junction. After brain imaging revealed contact of the medulla by a dolichoectatic vertebral artery at the dorsal root entry zone of the glossopharyngeal and vagus nerves, the patient was successfully treated by microvascular decompression of the brainstem and cranial nerves...
October 21, 2016: Journal of Neurosurgery
Viviane B L Torres, Juliana Vassalo, Ulysses V A Silva, Pedro Caruso, André P Torelly, Eliezer Silva, José M M Teles, Marcos Knibel, Ederlon Rezende, José J S Netto, Claudio Piras, Luciano C P Azevedo, Fernando A Bozza, Nelson Spector, Jorge I F Salluh, Marcio Soares
INTRODUCTION: Cancer patients are at risk for severe complications related to the underlying malignancy or its treatment and, therefore, usually require admission to intensive care units (ICU). Here, we evaluated the clinical characteristics and outcomes in this subgroup of patients. MATERIALS AND METHODS: Secondary analysis of two prospective cohorts of cancer patients admitted to ICUs. We used multivariable logistic regression to identify variables associated with hospital mortality...
2016: PloS One
Jonathan J Lyons, Xiaomin Yu, Jason D Hughes, Quang T Le, Ali Jamil, Yun Bai, Nancy Ho, Ming Zhao, Yihui Liu, Michael P O'Connell, Neil N Trivedi, Celeste Nelson, Thomas DiMaggio, Nina Jones, Helen Matthews, Katie L Lewis, Andrew J Oler, Ryan J Carlson, Peter D Arkwright, Celine Hong, Sherene Agama, Todd M Wilson, Sofie Tucker, Yu Zhang, Joshua J McElwee, Maryland Pao, Sarah C Glover, Marc E Rothenberg, Robert J Hohman, Kelly D Stone, George H Caughey, Theo Heller, Dean D Metcalfe, Leslie G Biesecker, Lawrence B Schwartz, Joshua D Milner
Elevated basal serum tryptase levels are present in 4-6% of the general population, but the cause and relevance of such increases are unknown. Previously, we described subjects with dominantly inherited elevated basal serum tryptase levels associated with multisystem complaints including cutaneous flushing and pruritus, dysautonomia, functional gastrointestinal symptoms, chronic pain, and connective tissue abnormalities, including joint hypermobility. Here we report the identification of germline duplications and triplications in the TPSAB1 gene encoding α-tryptase that segregate with inherited increases in basal serum tryptase levels in 35 families presenting with associated multisystem complaints...
October 17, 2016: Nature Genetics
Nelson Canales-Casco, Alejandro Dominguez-Amillo, Miguel Angel Arrabal-Polo, Francisco Javier Sanchez-Tamayo, Miguel Arrabal-Martin, Jose Manuel Cozar-Olmo
A 17-year-old male was referred to the Urology department for hematospermia after initiation of sexual relationship. An MRI scan showed giant dilation of a multi-cystic left seminal vesicle with left renal agenesis. These findings are typical of the Zinner syndrome. In 70-80% of the cases when renal agenesis is found, there is an ipsilateral cystic dilation of the seminal vesicle that in some cases may be associated with testicular ectopia or absence of the bladder trigone. The ejaculatory ducts, which are formed from the mesonephric system, are abnormally developed in this cases...
September 30, 2016: Urology
Galina Yordanova, Lee Martin, Farhad Afshar, Ian Sabin, Ghassan Alusi, Nicholas P Plowman, Fiona Riddoch, Jane Evanson, Matthew Matson, Ashley B Grossman, Scott A Akker, John P Monson, William M Drake, Martin O Savage, Helen L Storr
PURPOSE: Pediatric Cushing's disease (CD) is rare and there are limited data on the long-term outcomes. We assessed CD recurrence, body composition, pituitary function and psychiatric comorbidity in a cohort of pediatric CD patients. METHODS: Retrospective review of 21 CD patients, mean age at diagnosis 12.1 years (5.7-17.8), managed in our center between 1986 and 2010. Mean follow-up from definitive treatment was 10.6 years (2.9-27.2). RESULTS: Fifteen patients were in remission following transsphenoidal surgery (TSS) and 5 were in remission following TSS + external pituitary radiotherapy (RT)...
September 27, 2016: Pituitary
Fernando Korkes, Marcel Silveira, Oseas Castro Neves-Neto, Luiz Franco Brandão, Marcos Tobias-Machado, Nelson Wolosker, Felipe Nasser, Alexandre Maurano
Nutcracker syndrome refers to the complex of clinical symptoms caused by the compression of the left renal vein (LRV) between the abdominal aorta and the superior mesenteric artery, leading to stenosis of the aortomesenteric portion of the LRV and dilatation of the distal portion. Hematuria, proteinuria, flank pain, varicocele and pelvic congestion may occur, occurring more frequently in young adults. Conservative management, might be the option whenever it is possible. When surgical treatment is required, classically open surgery have been performed, with major surgeries as LRV transposition or bypass techniques...
September 20, 2016: International Braz J Urol: Official Journal of the Brazilian Society of Urology
Willem S Lexmond, Jeremy A Goettel, Jonathan J Lyons, Justin Jacobse, Marion M Deken, Monica G Lawrence, Thomas H DiMaggio, Daniel Kotlarz, Elizabeth Garabedian, Paul Sackstein, Celeste C Nelson, Nina Jones, Kelly D Stone, Fabio Candotti, Edmond H H M Rings, Adrian J Thrasher, Joshua D Milner, Scott B Snapper, Edda Fiebiger
In addition to the infectious consequences of immunodeficiency, patients with Wiskott-Aldrich syndrome (WAS) often suffer from poorly understood exaggerated immune responses that result in autoimmunity and elevated levels of serum IgE. Here, we have shown that WAS patients and mice deficient in WAS protein (WASP) frequently develop IgE-mediated reactions to common food allergens. WASP-deficient animals displayed an adjuvant-free IgE-sensitization to chow antigens that was most pronounced for wheat and soy and occurred under specific pathogen-free as well as germ-free housing conditions...
October 3, 2016: Journal of Clinical Investigation
R Douglas Wilson, Isabelle De Bie, Christine M Armour, Richard N Brown, Carla Campagnolo, June C Carroll, Nan Okun, Tanya Nelson, Rhonda Zwingerman, Francois Audibert, Jo-Ann Brock, Richard N Brown, Carla Campagnolo, June C Carroll, Isabelle De Bie, Jo-Ann Johnson, Nan Okun, Melanie Pastruck, Karine Vallée-Pouliot, R Douglas Wilson, Rhonda Zwingerman, Christine Armour, David Chitayat, Isabelle De Bie, Sara Fernandez, Raymond Kim, Josee Lavoie, Norma Leonard, Tanya Nelson, Sherry Taylor, Margot Van Allen, Clara Van Karnebeek
OBJECTIVE: This guideline was written to update Canadian maternity care and reproductive healthcare providers on pre- and postconceptional reproductive carrier screening for women or couples who may be at risk of being carriers for autosomal recessive (AR), autosomal dominant (AD), or X-linked (XL) conditions, with risk of transmission to the fetus. Four previous SOGC- Canadian College of Medical Geneticists (CCMG) guidelines are updated and merged into the current document. INTENDED USERS: All maternity care (most responsible health provider [MRHP]) and paediatric providers; maternity nursing; nurse practitioner; provincial maternity care administrator; medical student; and postgraduate resident year 1-7...
August 2016: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
Monica Marie Nelson
PURPOSE: The purpose of this focused ethnography was to describe the culture of care and nonpharmacologic nursing interventions performed by NICU nurses for infants with neonatal abstinence syndrome (NAS). METHOD: Roper and Shapira's framework for the analysis included participant observation, individual interviews, and examination of existing documents. SAMPLE: Twelve full-time nurses were observed and interviewed. RESULTS: Results described the culture of care provided to infants with NAS by NICU nurses as evidenced by six themes: learn the baby (routine care, comfort care, environment, adequate rest and sleep, feeding), core team relationships (support, interpersonal relationships), role satisfaction (nurturer/comforter, becoming an expert), grief, making a difference (wonderful insanity, critical to them), and education and care of the mother...
2016: Neonatal Network: NN
Gurleen Wander, Francesa Neuberger, Mandish K Dhanjal, Catherine Nelson-Piercy, May Ching Soh
Most published cases of cytomegalovirus infection in pregnancy relate to congenital abnormalities in neonates infected in early pregnancy, while the mother remains asymptomatic. We describe a diagnostically challenging case of an immunosuppressed woman with scleroderma who developed deranged liver function tests attributed to intrahepatic cholestasis of pregnancy and haemolysis, elevated liver enzymes and low platelets syndrome but was ultimately found to have disseminated cytomegalovirus. Cytomegalovirus can present in a myriad of ways...
September 2016: Obstetric Medicine
Dirk J Blom, Michael J Koren, Eli Roth, Maria Laura Monsalvo, C Stephen Djedjos, Patric Nelson, Mary Elliott, Scott M Wasserman, Christie M Ballantyne, Rury R Holman
AIM: To examine the lipid and glycaemic effects of 52 weeks of treatment with evolocumab. MATERIALS AND METHODS: The Durable Effect of PCSK9 Antibody Compared with Placebo Study (DESCARTES) was a 52-week placebo-controlled trial of evolocumab that randomized 905 patients from 88 study centres in 9 countries, with 901 receiving at least one dose of study drug. For this post-hoc analysis, DESCARTES patients were categorized by baseline glycaemic status: type 2 diabetes, impaired fasting glucose (IFG), metabolic syndrome (MetS) or none of these...
September 13, 2016: Diabetes, Obesity & Metabolism
Andrew T Timberlake, Jungmin Choi, Samir Zaidi, Qiongshi Lu, Carol Nelson-Williams, Eric D Brooks, Kaya Bilguvar, Irina Tikhonova, Shrikant Mane, Jenny F Yang, Rajendra Sawh-Martinez, Sarah Persing, Elizabeth G Zellner, Erin Loring, Carolyn Chuang, Amy Galm, Peter W Hashim, Derek M Steinbacher, Michael L DiLuna, Charles C Duncan, Kevin A Pelphrey, Hongyu Zhao, John A Persing, Richard P Lifton
Premature fusion of the cranial sutures (craniosynostosis), affecting 1 in 2000 newborns, is treated surgically in infancy to prevent adverse neurologic outcomes. To identify mutations contributing to common non-syndromic midline (sagittal and metopic) craniosynostosis, we performed exome sequencing of 132 parent-offspring trios and 59 additional probands. Thirteen probands (7%) had damaging de novo or rare transmitted mutations in SMAD6, an inhibitor of BMP - induced osteoblast differentiation (p<10(-20))...
September 8, 2016: ELife
May Bakir, Michael D Nelson, Erika Jones, Quanlin Li, Janet Wei, Behzad Sharif, Margo Minissian, Chrisandra Shufelt, George Sopko, Carl J Pepine, C Noel Bairey Merz
BACKGROUND: Women with signs and symptoms of ischemia, no obstructive coronary artery disease, and preserved left ventricular ejection fraction enrolled in the National Heart Lung and Blood Institute (NHLBI) sponsored Women's Ischemia Syndrome Evaluation (WISE) study have an unexpectedly high rate of subsequent heart failure (HF) hospitalization. We sought to verify and characterize the HF hospitalizations. METHODS: A retrospective chart review was performed on 223 women with signs and symptoms of ischemia, undergoing coronary angiography for suspected coronary artery disease followed for 6±2...
November 15, 2016: International Journal of Cardiology
Joseph D Racca, Yen-Shan Chen, Yanwu Yang, Nelson B Phillips, Michael A Weiss
A general problem is posed by analysis of transcriptional thresholds governing cell fate decisions in metazoan development. A model is provided by testis determination in therian mammals. Its key step, Sertoli cell differentiation in the embryonic gonadal ridge, is initiated by SRY, a Y-encoded architectural transcription factor. Mutations in human SRY cause gonadal dysgenesis leading to XY female development (Swyer syndrome). Here, we have characterized an inherited mutation compatible with either male or female somatic phenotypes as observed in an XY father and XY daughter, respectively...
October 14, 2016: Journal of Biological Chemistry
Stéphanie Bauché, Seana O'Regan, Yoshiteru Azuma, Fanny Laffargue, Grace McMacken, Damien Sternberg, Guy Brochier, Céline Buon, Nassima Bouzidi, Ana Topf, Emmanuelle Lacène, Ganaelle Remerand, Anne-Marie Beaufrere, Céline Pebrel-Richard, Julien Thevenon, Salima El Chehadeh-Djebbar, Laurence Faivre, Yannis Duffourd, Federica Ricci, Tiziana Mongini, Chiara Fiorillo, Guja Astrea, Carmen Magdalena Burloiu, Niculina Butoianu, Carmen Sandu, Laurent Servais, Gisèle Bonne, Isabelle Nelson, Isabelle Desguerre, Marie-Christine Nougues, Benoit Bœuf, Norma Romero, Jocelyn Laporte, Anne Boland, Doris Lechner, Jean-François Deleuze, Bertrand Fontaine, Laure Strochlic, Hanns Lochmuller, Bruno Eymard, Michèle Mayer, Sophie Nicole
The neuromuscular junction (NMJ) is one of the best-studied cholinergic synapses. Inherited defects of peripheral neurotransmission result in congenital myasthenic syndromes (CMSs), a clinically and genetically heterogeneous group of rare diseases with fluctuating fatigable muscle weakness as the clinical hallmark. Whole-exome sequencing and Sanger sequencing in six unrelated families identified compound heterozygous and homozygous mutations in SLC5A7 encoding the presynaptic sodium-dependent high-affinity choline transporter 1 (CHT), which is known to be mutated in one dominant form of distal motor neuronopathy (DHMN7A)...
September 1, 2016: American Journal of Human Genetics
Rebecca Josowitz, Sonia Mulero-Navarro, Nelson A Rodriguez, Christine Falce, Ninette Cohen, Erik M Ullian, Lauren A Weiss, Katherine A Rauen, Eric A Sobie, Bruce D Gelb
Germline mutations in BRAF cause cardio-facio-cutaneous syndrome (CFCS), whereby 40% of patients develop hypertrophic cardiomyopathy (HCM). As the role of the RAS/MAPK pathway in HCM pathogenesis is unclear, we generated a human induced pluripotent stem cell (hiPSC) model for CFCS from three patients with activating BRAF mutations. By cell sorting for SIRPα and CD90, we generated a method to examine hiPSC-derived cell type-specific phenotypes and cellular interactions underpinning HCM. BRAF-mutant SIRPα(+)/CD90(-) cardiomyocytes displayed cellular hypertrophy, pro-hypertrophic gene expression, and intrinsic calcium-handling defects...
September 13, 2016: Stem Cell Reports
Craig M Walker, Jihad Mustapha, Thomas Zeller, Andrej Schmidt, Miguel Montero-Baker, Aravinda Nanjundappa, Marco Manzi, Luis Mariano Palena, Nelson Bernardo, Yazan Khatib, Robert Beasley, Luis Leon, Fadi A Saab, Adam R Shields, George L Adams
PURPOSE: To report a prospective, multicenter, observational study ( identifier NCT01609621) of the safety and effectiveness of tibiopedal access and retrograde crossing in the treatment of infrainguinal chronic total occlusions (CTOs). METHODS: Twelve sites around the world prospectively enrolled 197 patients (mean age 71±11 years, range 41-93; 129 men) from May 2012 to July 2013 who met the inclusion criterion of at least one CTO for which a retrograde crossing procedure was planned or became necessary...
August 24, 2016: Journal of Endovascular Therapy
Sudesh Prabhu, Scott Fox, Adrian Mattke, Jane E Armes, Nelson Alphonso
We describe an infant with congenital mydriasis, patent ductus arteriosus (PDA), pulmonary hypertension, and cystic lung disease. She had all the major components of multisystemic smooth muscle dysfunction syndrome. Due to progressive respiratory deterioration, she required surgical PDA interruption, extracorporeal life support, and subsequent prolonged respiratory support. Genetic testing revealed ACTA2 R179H mutation and cystic lung disease on biopsy.
August 22, 2016: World Journal for Pediatric & Congenital Heart Surgery
Daniel Nicoara, Yangmiao Zhang, Jordan T Nelson, Abigail L Brewer, Prianka Maharaj, Shea N DeWald, Donald Y Shirachi, Raymond M Quock
Hyperbaric oxygen (HBO2) therapy reportedly reduces opiate withdrawal in human subjects. The purpose of this research was to determine whether HBO2 treatment could suppress physical signs of withdrawal in opiate-dependent mice. Male NIH Swiss mice were injected s.c. with morphine sulfate twice a day for 4 days, the daily dose gradually increasing from 50mg/kg on day 1 to 125mg/kg on day 4. On day 5, withdrawal was precipitated by i.p. injection of 5.0mg/kg naloxone. Mice were observed for physical withdrawal signs, including jumping, forepaw tremor, wet-dog shakes, rearing and defecation for 30min...
October 1, 2016: Brain Research
Marie C Hogan, Heather N Reich, Peter J Nelson, Sharon G Adler, Daniel C Cattran, Gerald B Appel, Debbie S Gipson, Matthias Kretzler, Jonathan P Troost, John C Lieske
Random urine protein creatinine ratios are used to estimate 24-hour urine protein excretion, which is considered a diagnostic gold standard. However, few studies are available of the sensitivity and specificity of this estimation in patients with glomerular proteinuria. To clarify this, we measured the urine protein and creatinine centrally in random and 24-hour urine collections at biopsy and longitudinally every 6 months in individuals participating in the Nephrotic Syndrome Study Network (NEPTUNE) cohort with glomerular disease...
November 2016: Kidney International
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