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https://www.readbyqxmd.com/read/27923944/membrane-oxygenator-use-with-biventricular-assist-device-facilitation-of-support-and-lung-recovery
#1
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
#2
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)...
November 22, 2016: Fertility and Sterility
https://www.readbyqxmd.com/read/27912889/hormone-replacement-therapy-in-young-women-with-primary-ovarian-insufficiency-and-early-menopause
#3
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
https://www.readbyqxmd.com/read/27900361/kbg-syndrome-involving-a-single-nucleotide-duplication-in-ankrd11
#4
Robert Kleyner, Janet Malcolmson, David Tegay, Kenneth Ward, Annette Maughan, Glenn Maughan, Lesa Nelson, Kai Wang, Reid Robison, Gholson J Lyon
KBG syndrome is a rare autosomal dominant genetic condition characterized by neurological involvement and distinct facial, hand, and skeletal features. More than 70 cases have been reported; however, it is likely that KBG syndrome is underdiagnosed because of lack of comprehensive characterization of the heterogeneous phenotypic features. We describe the clinical manifestations in a male currently 13 years of age, who exhibited symptoms including epilepsy, severe developmental delay, distinct facial features, and hand anomalies, without a positive genetic diagnosis...
November 2016: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/27868354/high-incidence-of-bscl2-intragenic-recombinational-mutation-in-peruvian-type-2-berardinelli-seip-syndrome
#5
Nelson Purizaca-Rosillo, Takayasu Mori, Yamali Benites-Cóndor, Fuki M Hisama, George M Martin, Junko Oshima
Congenital generalized lipodystrophy (CGL) is a genetically heterogeneous group of disorders characterized by the absence of functional adipose tissue. We identified two pedigrees with CGL in the community of the Mestizo tribe in the northern region of Peru. Five cases, ranging from 15 months to 7 years of age, presented with generalized lipodystrophy, muscular prominence, mild intellectual disability, and a striking aged appearance. Sequencing of the BSCL2 gene, known to be mutated in type 2 CGL (CGL2; Berardinelli-Seip syndrome), revealed a homozygous deletion of exon 3 in all five patients examined, suggesting the presence of a founder mutation...
November 21, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27860277/comparison-of-transradial-and-transfemoral-access-in-patients-undergoing-percutaneous-coronary-intervention-for-complex-coronary-lesions
#6
Edward Koifman, Michael A Gaglia, Ricardo O Escarcega, Nelson L Bernardo, Robert A Lager, Robert A Gallino, Itsik Ben-Dor, Augusto D Pichard, Nevin C Baker, Michael J Lipinski, Sarkis Kiramijyan, Smita I Negi, Rebecca Torguson, Jiaxiang Gai, William O Suddath, Lowell F Satler, Ron Waksman
OBJECTIVE: Comparison of transradial versus transfemoral access for complex percutaneous coronary intervention (PCI) with regard to both complications and long-term outcomes. BACKGROUND: Radial access has been shown to confer superior results in patients undergoing PCI, especially in patients with acute coronary syndromes. However, radial access has limitations of sheath and device size, which may increase procedure time and result in inferior outcomes. METHODS: Patients undergoing PCI for complex lesions, defined as type C according the ACC/AHA classification system, were included in this study...
November 10, 2016: Catheterization and Cardiovascular Interventions
https://www.readbyqxmd.com/read/27850594/956-a-mortality-prediction-model-for-pediatric-acute-respiratory-distress-syndrome
#7
Robinder Khemani, Lincoln Smith, Kaushik Parvathaneni, Nelson Sanchez-Pinto, Christopher Newth
No abstract text is available yet for this article.
December 2016: Critical Care Medicine
https://www.readbyqxmd.com/read/27827529/a-design-thinking-approach-to-primary-ovarian-insufficiency
#8
Lisa A Martin, Alison G Porter, Vincent A Pelligrini, Peter A Schnatz, Xuezhi Jiang, Nicole Kleinstreuer, Janet E Hall, Sarah Verbiest, Jill Olmstead, Ryan Fair, Alberto Falorni, Luca Persani, Aleksandar Rajkovic, Khanjan Mehta, Lawrence M Nelson
Most clinicians are not prepared to provide integrated personal care to address all the clinical needs of women with primary ovarian insufficiency. Design thinking is an engineering methodology used to develop and evaluate novel concepts for systems operation. Here we articulate the need for a seamlessly integrated mobile health system to support genomic research as well as patient care. We also review the pathophysiology and management of primary ovarian insufficiency. Molecular understanding regarding the pathogenesis is essential to developing strategies for prevention, earlier diagnosis, and appropriate management of the disorder...
November 9, 2016: Panminerva Medica
https://www.readbyqxmd.com/read/27824770/microangiopathic-hemolytic-anemia-due-to-malignancy-in-pregnancy
#9
Sarah K Happe, Amanda C Zofkie, David B Nelson
BACKGROUND: Microangiopathic disorders during pregnancy remain a diagnostic challenge because these conditions often imitate more common obstetric diseases. CASE: A 31-year-old multigravid woman delivered at term with a postpartum course complicated by laboratory indices consistent with hemolysis, elevated liver enzymes, and low platelet count syndrome. After clinical recovery, she was readmitted 2 weeks after delivery with presumptive pyelonephritis. Persistent hemolysis and worsening thrombocytopenia suggested a diagnosis of thrombotic microangiopathy, which did not respond to plasma exchange...
December 2016: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/27818397/critical-issues-in-the-lives-of-children-and-youth-who-are-deafblind
#10
Catherine Nelson, Susan M Bruce
The coeditors of an American Annals of the Deaf special issue on deaf-blindness introduce readers to critical issues surrounding children and youth who are deafblind. These issues-early identification, communication, social-emotional needs, family and multicultural issues, universal design and assistive technology, transition planning, and personnel preparation-are explored further in the articles that follow. By way of introduction, the present article provides definitions of deafblindness and a discussion of the heterogeneous nature of the population...
2016: American Annals of the Deaf
https://www.readbyqxmd.com/read/27815508/pathophysiology-of-exercise-intolerance-in-breast-cancer-survivors-with-preserved-left-ventricular-ejection-fraction
#11
REVIEW
Mark J Haykowsky, Rhys Beaudry, R Matthew Brothers, Michael D Nelson, Satyam Sarma, Andre La Gerche
Breast cancer (BC) survival rates have improved during the past two decades and as a result older BC survivors are at increased risk of developing heart failure (HF). Although the HF phenotype common to BC survivors has received little attention, BC survivors have a number of risk factors associated with HF and preserved ejection fraction (HFPEF) including older age, hypertension, obesity, metabolic syndrome and sedentary lifestyle. Moreover, not unlike HFPEF, BC survivors with preserved left ventricular ejection fraction (BCPEF) have reduced exercise tolerance measured objectively as decreased peak oxygen uptake (peak VO2)...
December 1, 2016: Clinical Science (1979-)
https://www.readbyqxmd.com/read/27802104/a-comparative-study-of-sociability-in-angelman-cornelia-de-lange-fragile-x-down-and-rubinstein-taybi-syndromes-and-autism-spectrum-disorder
#12
Joanna Moss, Lisa Nelson, Laurie Powis, Jane Waite, Caroline Richards, Chris Oliver
Few comparative studies have evaluated the heterogeneity of sociability across a range of neurodevelopmental disorders. The Sociability Questionnaire for People with Intellectual Disability (SQID) was completed by caregivers of individuals with Cornelia de Lange (n = 98), Angelman (n = 66), Fragile X (n = 142), Down (n = 117) and Rubinstein Taybi (n = 88) syndromes and autism spectrum disorder (ASD; n = 107). Between groups and age-band (<12yrs; 12-18yrs; >18yrs) comparisons of SQID scores were conducted...
November 2016: American Journal on Intellectual and Developmental Disabilities
https://www.readbyqxmd.com/read/27785097/regional-anesthesia-or-patient-controlled-analgesia-and-compartment-syndrome-in-orthopedic-surgical-procedures-a-systematic-review
#13
REVIEW
Elizabeth Bs Driscoll, Ana Hosseinzadeh Maleki, Leila Jahromi, Brittany Nelson Hermecz, Lauren E Nelson, Imelda L Vetter, Spencer Evenhuis, Lee Ann Riesenberg
A systematic review of the literature on the use of regional anesthesia (RA) and patient-controlled analgesia (PCA) was conducted in patients who require orthopedic extremity procedures to determine whether either analgesic technique contributes to a delayed diagnosis of compartment syndrome (CS). A total of 34 relevant articles (28 case reports and six research articles) were identified. Of all case report articles published after 2009, the majority (75%) concluded that RA does not put the patient at an increased risk of a delayed diagnosis of CS...
2016: Local and Regional Anesthesia
https://www.readbyqxmd.com/read/27783220/the-importance-of-mammillary-body-efferents-for-recency-memory-towards-a-better-understanding-of-diencephalic-amnesia
#14
Andrew J D Nelson, Seralynne D Vann
Despite being historically one of the first brain regions linked to memory loss, there remains controversy over the core features of diencephalic amnesia as well as the critical site for amnesia to occur. The mammillary bodies and thalamus appear to be the primary locus of pathology in the cases of diencephalic amnesia, but the picture is complicated by the lack of patients with circumscribed damage. Impaired temporal memory is a consistent neuropsychological finding in Korsakoff syndrome patients, but again, it is unclear whether this deficit is attributable to pathology within the diencephalon or concomitant frontal lobe dysfunction...
October 25, 2016: Brain Structure & Function
https://www.readbyqxmd.com/read/27767394/resolution-of-intractable-retching-following-mobilization-of-a-dolichoectatic-vertebral-artery-case-report-of-a-unique-brainstem-cranial-nerve-compression-syndrome
#15
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
https://www.readbyqxmd.com/read/27764143/outcomes-in-critically-ill-patients-with-cancer-related-complications
#16
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
https://www.readbyqxmd.com/read/27749843/elevated-basal-serum-tryptase-identifies-a-multisystem-disorder-associated-with-increased-tpsab1-copy-number
#17
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...
December 2016: Nature Genetics
https://www.readbyqxmd.com/read/27697459/hematospermia-as-a-rare-form-of-presentation-of-zinner-syndrome
#18
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
https://www.readbyqxmd.com/read/27678103/long-term-outcomes-of-children-treated-for-cushing-s-disease-a-single-center-experience
#19
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)...
December 2016: Pituitary
https://www.readbyqxmd.com/read/27649112/nutcracker-syndrome-laparoscopic-external-stenting-of-the-renal-vein-the-shield-technique
#20
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
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