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Nelson syndrome

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https://www.readbyqxmd.com/read/28221141/-etiopathogenic-factors-of-the-different-types-of-urinary-litiasis
#1
Miguel Arrabal-Martín, María Carmen Cano-García, Miguel Ángel Arrabal-Polo, Alejandro Domínguez-Amillo, Nelson Canales-Casco, Javier de la Torre-Trillo, José Manuel Cózar-Olmo
In this review, we analyze the etiopathogenic principles of urinary lithiasis formation. In the kidney, calcifications that may cause renal lithiasis are produced as a consequence of processes that injury the urothelium at the papilla and Bellini's ducts. With the improvement of imaging techniques, mainly micro CT scan, it is possible to detect them and we may be able to anticipate to the formation of lithiasis. As we well know, there are different factors that influence the formation of the calculi depending on their composition...
January 2017: Archivos Españoles de Urología
https://www.readbyqxmd.com/read/28220946/light-and-energy-based-therapeutics-for-genitourinary-syndrome-of-menopause-consensus-and-controversies
#2
Yona Tadir, Adrian Gaspar, Ahinoam Lev-Sagie, Macrene Alexiades, Red Alinsod, Alex Bader, Alberto Calligaro, Jorge A Elias, Marco Gambaciani, Jorge E Graviria, Cheryl B Iglesia, Ksenija Selih-Martinec, Patricia L Mwesigwa, Urska B Ogrinc, Stefano Salvatore, Paolo Scollo, Nicola Zerbinati, John Stuart Nelson
Gynecologist and plastic surgeons pioneered the application of lasers in medicine and surgery almost 5 decades ago, initially used to treat cervical and vaginal pathologies. Ever since, energy-based devices have been deployed to treat pelvic pathologies and improve fertility. Recent technological developments triggered an unprecedented wave of publications, assessing the efficacy of fractional laser, and radiofrequency on the vaginal wall in reversing natural aging processes. Studies have shown that a certain degree of thermal energy deposited on the vaginal wall stimulates proliferation of the glycogen-enriched epithelium, neovascularization, and collagen formation in the lamina propria, and improves natural lubrication and control of urination...
February 21, 2017: Lasers in Surgery and Medicine
https://www.readbyqxmd.com/read/28181233/sebaceous-carcinoma-in-solid-organ-transplant-recipients
#3
Elika Hoss, Steven A Nelson, Amit Sharma
BACKGROUND: Though a rare tumor, sebaceous carcinoma is relatively well-described in immunocompetent patients, in whom it often occurs in a periorbital distribution where it has an overall poor prognosis with a high metastasis rate. The effect of transplant-related immunosuppression on the development of sebaceous carcinoma and its outcomes has not been characterized. METHODS: We collected 9 cases from a single institution of patients developing sebaceous carcinoma after solid organ transplantation...
February 8, 2017: International Journal of Dermatology
https://www.readbyqxmd.com/read/28166540/effect-of-tobacco-smoking-on-the-clinical-histopathological-and-serological-manifestations-of-sj%C3%A3-gren-s-syndrome
#4
Donald U Stone, Dustin Fife, Michael Brown, Keith E Earley, Lida Radfar, C Erick Kaufman, David M Lewis, Nelson L Rhodus, Barbara M Segal, Daniel J Wallace, Michael H Weisman, Swamy Venuturupalli, Michael T Brennan, Christopher J Lessard, Courtney G Montgomery, R Hal Scofield, Kathy L Sivils, Astrid Rasmussen
OBJECTIVES: To assess the association of smoking habits with the clinical, serological, and histopathological manifestations of Sjögren's syndrome (SS) and non-Sjögren's sicca (non-SS sicca). METHODS: Cross-sectional case-control study of 1288 patients with sicca symptoms (587 SS and 701 non-SS sicca) evaluated in a multi-disciplinary research clinic. Smoking patterns were obtained from questionnaire data and disease-related clinical and laboratory data were compared between current, past, ever, and never smokers...
2017: PloS One
https://www.readbyqxmd.com/read/28142228/notch1-dependent-nitric-oxide-signaling-deficiency-in-hypoplastic-left-heart-syndrome-revealed-through-patient-specific-phenotypes-detected-in-bioengineered-cardiogenesis
#5
Sybil C L Hrstka, Xing Li, Timothy J Nelson
Hypoplastic left heart syndrome (HLHS) is a severe congenital heart defect (CHD) attributable to multifactorial molecular underpinnings. Multiple genetic loci have been implicated to increase the risk of disease, yet genotype-phenotype relationships remain poorly defined. Whole genome sequencing complemented by cardiac phenotype from five individuals in an HLHS-affected family enabled the identification of NOTCH1 as a prioritized candidate gene linked to CHD in three individuals with mutant allele burden significantly impairing Notch signaling in the HLHS-affected proband...
January 31, 2017: Stem Cells
https://www.readbyqxmd.com/read/28137478/gender-balance-in-patients-with-systemic-lupus-erythematosus
#6
REVIEW
Audrey A Margery-Muir, Christine Bundell, Delia Nelson, David M Groth, John D Wetherall
Factors are reviewed that contribute to the contemporary view of a disproportionate prevalence and incidence of SLE in females. Recent studies on the epidemiology of SLE report that global incidences and prevalences of SLE for Caucasian and Black populations are of the order of 5.5 and 13.1 per year and 81 and 212 per 100,000 persons respectively. Both parameters displayed age dependent variation over a 90-year lifespan. The female to male (F:M) incidence of SLE varied with age, being approximately 1 during the first decade of life, followed by a sharp increase to 9 during the 4th decade, thence declining in subsequent decades before an increase during the 7th or 8th decade...
January 27, 2017: Autoimmunity Reviews
https://www.readbyqxmd.com/read/28132692/a-recurrent-de-novo-variant-in-nacc1-causes-a-syndrome-characterized-by-infantile-epilepsy-cataracts-and-profound-developmental-delay
#7
Kelly Schoch, Linyan Meng, Szabolcs Szelinger, David R Bearden, Asbjorg Stray-Pedersen, Oyvind L Busk, Nicholas Stong, Eriskay Liston, Ronald D Cohn, Fernando Scaglia, Jill A Rosenfeld, Jennifer Tarpinian, Cara M Skraban, Matthew A Deardorff, Jeremy N Friedman, Zeynep Coban Akdemir, Nicole Walley, Mohamad A Mikati, Peter G Kranz, Joan Jasien, Allyn McConkie-Rosell, Marie McDonald, Stephanie Burns Wechsler, Michael Freemark, Sujay Kansagra, Sharon Freedman, Deeksha Bali, Francisca Millan, Sherri Bale, Stanley F Nelson, Hane Lee, Naghmeh Dorrani, David B Goldstein, Rui Xiao, Yaping Yang, Jennifer E Posey, Julian A Martinez-Agosto, James R Lupski, Michael F Wangler, Vandana Shashi
Whole-exome sequencing (WES) has increasingly enabled new pathogenic gene variant identification for undiagnosed neurodevelopmental disorders and provided insights into both gene function and disease biology. Here, we describe seven children with a neurodevelopmental disorder characterized by microcephaly, profound developmental delays and/or intellectual disability, cataracts, severe epilepsy including infantile spasms, irritability, failure to thrive, and stereotypic hand movements. Brain imaging in these individuals reveals delay in myelination and cerebral atrophy...
February 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28117104/are-current-labeling-terms-suitable-for-people-who-are-at-risk-of-psychosis
#8
Sung-Wan Kim, Andrea Polari, Fritha Melville, Bridget Moller, Jae-Min Kim, Paul Amminger, Helen Herrman, Patrick McGorry, Barnaby Nelson
Inclusion of 'attenuated psychosis syndrome (APS)' in the DSM-5 has been hotly debated because of the concern about stigmatising young patients with a 'psychosis risk' label. This study aimed to investigate whether current labeling terms such as 'at risk mental state', 'ultra-high risk' (UHR) and 'APS' are suitable for people who are at risk of psychosis. This study included 105 subjects (55 patients aged 15-25years who used an early interventional service to prevent psychosis and 50 professionals who worked with them)...
January 20, 2017: Schizophrenia Research
https://www.readbyqxmd.com/read/28101432/atypical-hemolytic-uremic-syndrome-in-first-trimester-pregnancy-successfully-treated-with-eculizumab
#9
Gabriela Andries, Michael Karass, Srikanth Yandrapalli, Katherine Linder, Delong Liu, John Nelson, Rahul Pawar, Savneek Chugh
BACKGROUND: Atypical hemolytic uremic syndrome is a rare disorder which is known to cause acute thrombotic microangiopathy during pregnancy with poor maternal and fetal outcomes. Atypical hemolytic uremic syndrome is caused mostly by dysregulation of alternative complement pathway secondary to genetic mutations. Most of the cases reported have been in the post-partum period. We report a rare case of a patient who presents with thrombotic microangiopathy in the first trimester of her eleventh pregnancy and was successfully treated with eculizumab...
2017: Experimental Hematology & Oncology
https://www.readbyqxmd.com/read/28073935/brain-structure-and-function-associated-with-younger-adults-in-growth-hormone-receptor-deficient-humans
#10
Kaoru Nashiro, Jaime Guevara-Aguirre, Meredith N Braskie, George W Hafzalla, Rico Velasco, Priya Balasubramian, Min Wei, Paul M Thompson, Mara Mather, Marvin D Nelson, Alexandra Guevara, Enrique Teran, Valter D Longo
: Growth hormone receptor deficiency (GHRD) results in short stature, enhanced insulin sensitivity, and low circulating levels of insulin and insulin-like growth factor 1 (IGF-1). Previous studies in mice and humans suggested that GHRD has protective effects against age-related diseases, including cancer and diabetes. Whereas GHRD mice show improved age-dependent cognitive performance, the effect of GHRD on human cognition remains unknown. Using magnetic resonance imaging (MRI), we compared brain structure, function, and connectivity between 13 people with GHRD and 12 unaffected relatives...
January 10, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28062682/genome-wide-association-study-of-nevirapine-hypersensitivity-in-a-sub-saharan-african-hiv-infected-population
#11
Daniel F Carr, Stephane Bourgeois, Mas Chaponda, Louise Y Takeshita, Andrew P Morris, Elena M Cornejo Castro, Ana Alfirevic, Andrew R Jones, Daniel J Rigden, Sam Haldenby, Saye Khoo, David G Lalloo, Robert S Heyderman, Collet Dandara, Elizabeth Kampira, Joep J van Oosterhout, Francis Ssali, Paula Munderi, Giuseppe Novelli, Paola Borgiani, Matthew R Nelson, Arthur Holden, Panos Deloukas, Munir Pirmohamed
BACKGROUND: The antiretroviral nevirapine is associated with hypersensitivity reactions in 6%-10% of patients, including hepatotoxicity, maculopapular exanthema, Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN). OBJECTIVES: To undertake a genome-wide association study (GWAS) to identify genetic predisposing factors for the different clinical phenotypes associated with nevirapine hypersensitivity. METHODS: A GWAS was undertaken in a discovery cohort of 151 nevirapine-hypersensitive and 182 tolerant, HIV-infected Malawian adults...
January 6, 2017: Journal of Antimicrobial Chemotherapy
https://www.readbyqxmd.com/read/28056011/escherichia-coli-o157-h7-infections-associated-with-contaminated-pork-products-alberta-canada-july-october-2014
#12
Lance Honish, Nisha Punja, Sarah Nunn, Dale Nelson, Nyall Hislop, Garth Gosselin, Natisha Stashko, Darlene Dittrich
During July-October 2014, an outbreak of 119 Escherichia coli O157:H7 infections in Alberta, Canada was identified through notifiable disease surveillance and investigated by local, provincial, and federal public health and food regulatory agencies. Twenty-three (19%) patients were hospitalized, six of whom developed hemolytic uremic syndrome; no deaths were reported. Informed by case interviews, seven potential food sources were identified and investigated. The majority of patients reported having consumed meals containing pork at Asian-style restaurants in multiple geographically diverse Alberta cities during their exposure period...
January 6, 2017: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/28034579/a-randomized-clinical-trial-of-a-culturally-responsive-intervention-for-african-american-women-with-asthma
#13
Minal R Patel, Peter X K Song, Georgiana Sanders, Belinda Nelson, Elena Kaltsas, Lara J Thomas, Mary R Janevic, Kausar Hafeez, Wen Wang, Margaret Wilkin, Timothy R Johnson, Randall W Brown
BACKGROUND: Few interventions have focused on the difficulties that African American women face when managing asthma. OBJECTIVE: To evaluate a telephone-based self-regulation intervention that emphasized African American women's management of asthma in a series of 6 sessions. METHODS: A total of 422 African American women with persistent asthma were randomly assigned to either an intervention or control group receiving usual care. Behavioral factors, symptoms and asthma control, asthma-related quality of life, and health care use at baseline and 2 years after baseline were assessed...
December 26, 2016: Annals of Allergy, Asthma & Immunology
https://www.readbyqxmd.com/read/28017370/de-novo-mutations-in-ebf3-cause-a-neurodevelopmental-syndrome
#14
Hannah Sleven, Seth J Welsh, Jing Yu, Mair E A Churchill, Caroline F Wright, Alex Henderson, Rita Horvath, Julia Rankin, Julie Vogt, Alex Magee, Vivienne McConnell, Andrew Green, Mary D King, Helen Cox, Linlea Armstrong, Anna Lehman, Tanya N Nelson, Jonathan Williams, Penny Clouston, James Hagman, Andrea H Németh
Early B cell factor 3 (EBF3) is an atypical transcription factor that is thought to influence the laminar formation of the cerebral cortex. Here, we report that de novo mutations in EBF3 cause a complex neurodevelopmental syndrome. The mutations were identified in two large-scale sequencing projects: the UK Deciphering Developmental Disorders (DDD) study and the Canadian Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) study. The core phenotype includes moderate to severe intellectual disability, and many individuals exhibit cerebellar ataxia, subtle facial dysmorphism, strabismus, and vesicoureteric reflux, suggesting that EBF3 has a widespread developmental role...
January 5, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27993544/-a-false-nelson-s-syndrome
#15
I M Peral Martínez, M Sánchez Sánchez, A B Martínez Sánchez, J A Martínez Solano, J J Gomariz García
No abstract text is available yet for this article.
December 16, 2016: Semergen
https://www.readbyqxmd.com/read/27982315/haploidentical-transplantation-of-hematopoietic-stem-cells
#16
Nelson Hamerschlak
OBJECTIVE: To review and discuss the literature on hematopoietic stem cell transplantation (HSCT) with haploidentical donors in Brazil. METHOD: Literature review. RESULTS: The haploidentical hematopoietic stem cell transplantations have become a safe option in hematology since the 80s, with the possibility of ex-vivo T-cell depletion. However, its broad use worldwide occurred with the advent of haploidentical nonmyeloablative transplants using in vivo T-cell depletion with the administration of post-transplant cyclophosphamide...
October 2016: Revista da Associação Médica Brasileira
https://www.readbyqxmd.com/read/27933201/association-between-metabolic-syndrome-and-liver-histology-among-nafld-patients-without-diabetes
#17
Pushpjeet Kanwar, James E Nelson, Katherine Yates, David E Kleiner, Aynur Unalp-Arida, Kris V Kowdley
BACKGROUND: Metabolic syndrome (MetS) and obesity are associated with non-alcoholic fatty liver disease (NAFLD). The aim of this observational study was to examine the relationship of MetS and a diagnosis of non-alcoholic steatohepatitis (NASH) in patients without diabetes in the NASH Clinical Research Network (CRN). METHODS: Clinical, demographic, histological, laboratory and anthropometric data were collected on 356 adult patients without diabetes with NAFLD. Obesity was defined as body mass index ≥30...
2016: BMJ Open Gastroenterology
https://www.readbyqxmd.com/read/27923944/membrane-oxygenator-use-with-biventricular-assist-device-facilitation-of-support-and-lung-recovery
#18
Kristen Nelson-McMillan, William J Ravekes, William R Thompson, Kristen M Brown, Larry Wolff, Rajeev S Wadia, LeAnn M McNamara, Donald H Shaffner, Ivor D Berkowitz, Marshall L Jacobs, Luca A Vricella
We present the use of a low-resistance membrane oxygenator (Quadrox D, Maquet) in series with a pulsatile right ventricular assist device (Berlin Heart EXCOR, Berlin Heart) in a patient with biventricular support who required high-frequency oscillatory ventilation (HFOV), due to refractory acute respiratory distress syndrome associated with Cytomegalovirus pneumonia. The high mean airway pressure associated with the use of HFOV resulted in a significant negative impact on left ventricular assist device (LVAD) filling that led to a combined respiratory and metabolic acidosis and the need for vasopressor support...
December 6, 2016: World Journal for Pediatric & Congenital Heart Surgery
https://www.readbyqxmd.com/read/27912901/individualized-versus-conventional-ovarian-stimulation-for-in%C3%A2-vitro-fertilization-a-multicenter-randomized-controlled-assessor-blinded-phase-3-noninferiority-trial
#19
Anders Nyboe Andersen, Scott M Nelson, Bart C J M Fauser, Juan Antonio García-Velasco, Bjarke M Klein, Joan-Carles Arce
OBJECTIVE: To compare the efficacy and safety of follitropin delta, a new human recombinant FSH with individualized dosing based on serum antimüllerian hormone (AMH) and body weight, with conventional follitropin alfa dosing for ovarian stimulation in women undergoing IVF. DESIGN: Randomized, multicenter, assessor-blinded, noninferiority trial (ESTHER-1). SETTING: Reproductive medicine clinics. PATIENT(S): A total of 1,329 women (aged 18-40 years)...
February 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/27912889/hormone-replacement-therapy-in-young-women-with-primary-ovarian-insufficiency-and-early-menopause
#20
REVIEW
Shannon D Sullivan, Philip M Sarrel, Lawrence M Nelson
Primary ovarian insufficiency (POI) is a rare but important cause of ovarian hormone deficiency and infertility in women. In addition to causing infertility, POI is associated with multiple health risks, including bothersome menopausal symptoms, decreased bone density and increased risk of fractures, early progression of cardiovascular disease, psychologic impact that may include depression, anxiety, and decreased perceived psychosocial support, potential early decline in cognition, and dry eye syndrome. Appropriate hormone replacement therapy (HRT) to replace premenopausal levels of ovarian sex steroids is paramount to increasing quality of life for women with POI and ameliorating associated health risks...
December 2016: Fertility and Sterility
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