keyword
MENU ▼
Read by QxMD icon Read
search

Williams syndrome

keyword
https://www.readbyqxmd.com/read/28443262/a-rare-association-of-central-hypothyroidism-and-adrenal-insufficiency-in-a-boy-with-williams-beuren-syndrome
#1
Devi Dayal, Dinesh Giri, Senthil Senniappan
Primary hypothyroidism related to morphological and volumetric abnormalities of the thyroid gland is one of the commonest of several endocrine dysfunctions in Williams-Beuren syndrome (WBS). We report a 10-month-old boy with WBS who presented with central hypothyroidism. During the neonatal period, he had prolonged jaundice, feeding difficulties and episodes of colic that continued during early infancy. Additionally, there was slowing of growth and mild developmental delay. He underwent surgical repair for supravalvular aortic stenosis at 6 months of age...
March 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28441964/fecal-metagenomic-profiles-in-subgroups-of-patients-with-myalgic-encephalomyelitis-chronic-fatigue-syndrome
#2
Dorottya Nagy-Szakal, Brent L Williams, Nischay Mishra, Xiaoyu Che, Bohyun Lee, Lucinda Bateman, Nancy G Klimas, Anthony L Komaroff, Susan Levine, Jose G Montoya, Daniel L Peterson, Devi Ramanan, Komal Jain, Meredith L Eddy, Mady Hornig, W Ian Lipkin
BACKGROUND: Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is characterized by unexplained persistent fatigue, commonly accompanied by cognitive dysfunction, sleeping disturbances, orthostatic intolerance, fever, lymphadenopathy, and irritable bowel syndrome (IBS). The extent to which the gastrointestinal microbiome and peripheral inflammation are associated with ME/CFS remains unclear. We pursued rigorous clinical characterization, fecal bacterial metagenomics, and plasma immune molecule analyses in 50 ME/CFS patients and 50 healthy controls frequency-matched for age, sex, race/ethnicity, geographic site, and season of sampling...
April 26, 2017: Microbiome
https://www.readbyqxmd.com/read/28440687/the-consequence-of-spatial-visual-processing-dysfunction-caused-by-traumatic-brain-injury-tbi
#3
William V Padula, Jose E Capo-Aponte, William V Padula, Eric L Singman, Jonathan Jenness
OBJECTIVE: A bi-modal visual processing model is supported by research to affect dysfunction following a traumatic brain injury (TBI). TBI causes dysfunction of visual processing affecting binocularity, spatial orientation, posture and balance. Research demonstrates that prescription of prisms influence the plasticity between spatial visual processing and motor-sensory systems improving visual processing and reducing symptoms following a TBI. RATIONALE: The rationale demonstrates that visual processing underlies the functional aspects of binocularity, balance and posture...
April 25, 2017: Brain Injury: [BI]
https://www.readbyqxmd.com/read/28438318/the-affinities-of-homo-floresiensis-based-on-phylogenetic-analyses-of%C3%A2-cranial-dental-and-postcranial-characters
#4
Debbie Argue, Colin P Groves, Michael S Y Lee, William L Jungers
Although the diminutive Homo floresiensis has been known for a decade, its phylogenetic status remains highly contentious. A broad range of potential explanations for the evolution of this species has been explored. One view is that H. floresiensis is derived from Asian Homo erectus that arrived on Flores and subsequently evolved a smaller body size, perhaps to survive the constrained resources they faced in a new island environment. Fossil remains of H. erectus, well known from Java, have not yet been discovered on Flores...
April 19, 2017: Journal of Human Evolution
https://www.readbyqxmd.com/read/28433659/carbonic-anhydrase-xii-functions-in-health-and-disease
#5
REVIEW
Abdul Waheed, William S Sly
Human CAXII was initially identified as a cancer marker in different cancers and tumors. Expression of CAXII is regulated by hypoxia and estrogen receptors. CAXII expression has been also detected in several tissues, whereas in cancer and tumor tissues its expression is several fold higher. In brain tumors, an alternatively spliced form of CAXII is expressed. Higher expression of CAXII in breast cancer is indicative of lower grade disease. CAXII plays a key role in several physiological functions. Mutation in the CAXII gene causes cystic fibrosis-like syndrome and salt wasting disease...
April 19, 2017: Gene
https://www.readbyqxmd.com/read/28432734/monogenic-diabetes-syndromes-locus-specific-databases-for-alstr%C3%A3-m-wolfram-and-thiamine-responsive-megaloblastic-anaemia
#6
Dewi Astuti, Ataf Sabir, Piers Fulton, Malgorzata Zatyka, Denise Williams, Carol Hardy, Gabriella Milan, Francesca Favaretto, Patrick Yu-Wai-Man, Julia Rohayem, Miguel López de Heredia, Tamara Hershey, Lisbeth Tranebjaerg, Jian-Hua Chen, Annabel Chaussenot, Virginia Nunes, Bess Marshall, Susan McAfferty, Vallo Tillmann, Pietro Maffei, Veronique Paquis-Flucklinger, Tarekign Geberhiwot, Wojciech Mlynarski, Kay Parkinson, Virginie Picard, Gema Esteban Bueno, Renuka Dias, Amy Arnold, Caitlin Richens, Richard Paisey, Fumi Urano, Robert Semple, Richard Sinnott, Timothy G Barrett
We developed a variant database for diabetes syndrome genes, using the Leiden Open Variation Database platform, containing observed phenotypes matched to the genetic variations. We populated it with 628 published disease associated variants (December 2016) for: WFS1 (n = 309), CISD2 (n = 3), ALMS1 (n = 268), and SLC19A2 (n = 48) for Wolfram type 1, Wolfram type 2, Alström and Thiamine-responsive megaloblastic anaemia syndromes respectively; and included 23 previously unpublished novel germline variants in WFS1 and 17 variants in ALMS1...
April 21, 2017: Human Mutation
https://www.readbyqxmd.com/read/28430550/round-table-on-malignant-hyperthermia-in-physically-active-populations-meeting-proceedings
#7
Yuri Hosokawa, Douglas J Casa, Henry Rosenberg, John F Capacchione, Emmanuel Sagui, Sheila Riazi, Luke N Belval, Patricia A Deuster, John F Jardine, Stavros A Kavouras, Elaine C Lee, Kevin C Miller, Sheila M Muldoon, Francis G O'Connor, Scott R Sailor, Nyamkhishig Sambuughin, Rebecca L Stearns, William M Adams, Robert A Huggins, Lesley W Vandermark
CONTEXT:   Recent case reports on malignant hyperthermia (MH)-like syndrome in physically active populations indicate potential associations among MH, exertional heat stroke (EHS), and exertional rhabdomyolysis (ER). However, an expert consensus for clinicians working with these populations is lacking. OBJECTIVE:   To provide current expert consensus on the (1) definition of MH; (2) history, etiology, and pathophysiology of MH; (3) epidemiology of MH; (4) association of MH with EHS and ER; (5) identification of an MH-like syndrome; (6) recommendations for acute management of an MH-like syndrome; (7) special considerations for physically active populations; and (8) future directions for research...
April 2017: Journal of Athletic Training
https://www.readbyqxmd.com/read/28429308/chronic-candidiasis-in-children
#8
REVIEW
Laura Green, William K Dolen
PURPOSE OF REVIEW: Healthy children may develop candidal infections as the result of exposure to antibiotics or corticosteroids, but chronic candidiasis in children after the newborn period is unusual. Chronic mucocutaneous candidiasis (CMC) refers to a group of conditions characterized by recurrent or persistent infections with Candida species, particularly Candida albicans. CMC is a phenotype observed in a spectrum of immunologic disorders, some with endocrinologic and autoimmune features...
May 2017: Current Allergy and Asthma Reports
https://www.readbyqxmd.com/read/28424317/the-williams-syndrome-prosociality-gene-gtf2i-mediates-oxytocin-reactivity-and-social-anxiety-in-a-healthy-population
#9
Tanya L Procyshyn, Jason Spence, Silven Read, Neil V Watson, Bernard J Crespi
The neurohormone oxytocin plays a central role in human social behaviour and cognition, and oxytocin dysregulation may contribute to psychiatric disorders. However, genetic factors influencing individual variation in the oxytocinergic system remain poorly understood. We genotyped 169 healthy adults for a functional polymorphism in GTF2I (general transcription factor II-I), a gene associated with high prosociality and reduced social anxiety in Williams syndrome, a condition reported to involve high oxytocin levels and reactivity...
April 2017: Biology Letters
https://www.readbyqxmd.com/read/28424276/thrombin-induced-podocyte-injury-is-protease-activated-receptor-dependent
#10
Ruchika Sharma, Amanda P Waller, Shipra Agrawal, Katelyn J Wolfgang, Hiep Luu, Khurrum Shahzad, Berend Isermann, William E Smoyer, Marvin T Nieman, Bryce A Kerlin
Nephrotic syndrome is characterized by massive proteinuria and injury of specialized glomerular epithelial cells called podocytes. Studies have shown that, whereas low-concentration thrombin may be cytoprotective, higher thrombin concentrations may contribute to podocyte injury. We and others have demonstrated that ex vivo plasma thrombin generation is enhanced during nephrosis, suggesting that thrombin may contribute to nephrotic progression. Moreover, nonspecific thrombin inhibition has been shown to decrease proteinuria in nephrotic animal models...
April 19, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/28424273/certainty-of-genuine-treatment-increases-drug-responses-among-intellectually-disabled-patients
#11
Karin B Jensen, Irving Kirsch, Moa Pontén, Annelie Rosén, Kathy Yang, Randy L Gollub, Vincent des Portes, Ted J Kaptchuk, Aurore Curie
OBJECTIVE: To determine the placebo component of treatment responses in patients with intellectual disability (ID). METHODS: A statistical meta-analysis comparing bias-corrected effect sizes (Hedges g) of drug responses in open-label vs placebo-controlled clinical trials was performed, as these trial types represent different certainty of receiving genuine treatment (100% vs 50%). Studies in fragile X, Down, Prader-Willi, and Williams syndrome published before June 2015 were considered...
April 19, 2017: Neurology
https://www.readbyqxmd.com/read/28424125/thromboelastography-utilization-in-delayed-recurrent-coagulopathy-after-severe-eastern-diamondback-rattlesnake-envenomation
#12
Katherine M McBride, William Bromberg, James Dunne
Venomous snakebites are fairly common in the United States and can present with a wide range of symptoms. A 48-year-old man presented after Eastern Diamondback rattlesnake envenomation. His hospital course was complicated by right leg compartment syndrome and delayed recurrent coagulopathy, requiring multiple doses of Crotalidae Polyvalent Immune Fab (CroFab) antivenom and transfusions. Thromboelastography was used as an adjunct to standard coagulation studies in monitoring his delayed recurrent coagulopathy...
April 1, 2017: American Surgeon
https://www.readbyqxmd.com/read/28421145/a-framework-for-describing-the-influence-of-service-organisation-and-delivery-on-participation-in-fetal-anomaly-screening-in-england
#13
Hyacinth O Ukuhor, Janet Hirst, S José Closs, William J Montelpare
Objective. The aim of this research was to explore the influence of service organisation and delivery on providers and users' interactions and decision-making in the context of Down's syndrome screening. Methods. A qualitative descriptive study involving online interviews conducted with a purposive sample of 34 community midwives, 35 pregnant women, and 15 partners from two maternity services in different health districts in England. Data were analysed using a combination of grounded theory principles and content analysis and a framework was developed...
2017: Journal of Pregnancy
https://www.readbyqxmd.com/read/28419413/long-term-outcomes-secondary-malignancies-and-stem-cell-collection-following-bendamustine-in-patients-with-previously-treated-non-hodgkin-lymphoma
#14
Peter Martin, Zhengming Chen, Bruce D Cheson, Katherine S Robinson, Michael Williams, Saurabh A Rajguru, Jonathan W Friedberg, Richard H van der Jagt, Ann S LaCasce, Robin Joyce, Kristen N Ganjoo, Nancy L Bartlett, Bernard Lemieux, Ari VanderWalde, Jordan Herst, Jeffrey Szer, Michael H Bar, Fernando Cabanillas, Anthony J Dodds, Paul G Montgomery, Bryn Pressnail, Tricia Ellis, Mitchell R Smith, John P Leonard
Despite the long history of bendamustine as treatment for indolent non-Hodgkin lymphoma, long-term efficacy and toxicity data are minimal. We reviewed long-term data from three clinical trials to characterize the toxicity and efficacy of patients receiving bendamustine. Data were available for 149 subjects at 21 sites. The median age was 60 years at the start of bendamustine (range 39-84), and patients had received a median of 3 prior therapies. The histologies included grades 1-2 follicular lymphoma (FL; n = 73), grade 3 FL (n = 23), small lymphocytic lymphoma (n = 20), marginal zone lymphoma (n = 15), mantle cell lymphoma (n = 9), transformed lymphomas (n = 5), lymphoplasmacytic lymphoma (n = 2) and not reported (n = 2)...
April 17, 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/28419330/seizure-outcomes-in-occipital-lobe-and-posterior-quadrant-epilepsy-surgery-a-systematic-review-and-meta-analysis
#15
Stephen C Harward, William C Chen, John D Rolston, Michael M Haglund, Dario J Englot
BACKGROUND: Occipital lobe epilepsy (OLE) is an uncommon but debilitating focal epilepsy syndrome with seizures often refractory to medical management. While surgical resection has proven a viable treatment, previous studies examining postoperative seizure freedom rates are limited by small sample size and patient heterogeneity, thus exhibiting significant variability in their results. OBJECTIVE: To review the medical literature on OLE so as to investigate rates and predictors of both seizure freedom and visual outcomes following surgery...
April 13, 2017: Neurosurgery
https://www.readbyqxmd.com/read/28418697/a-two-biomarker-model-predicts-mortality-in-the-critically-ill-with-sepsis
#16
Carmen Mikacenic, Brenda L Price, Susanna Harju-Baker, D Shane O'Mahony, Cassianne Robinson-Cohen, Frank Radella, William O Hahn, Ronit Katz, David C Christiani, Jonathan Himmelfarb, W Conrad Liles, Mark M Wurfel
RATIONALE: Improving the prospective identification of patients with the systemic inflammatory response syndrome (SIRS) and sepsis at low for organ dysfunction and death is a major clinical challenge. OBJECTIVE: To develop and validate a multi-biomarker based prediction model for 28-day mortality in critically ill patients with SIRS and sepsis. METHODS: The derivation cohort (n=888) and internal test cohort (n=278) were from a prospective study of critically ill intensive care unit (ICU) patients meeting 2 of 4 SIRS criteria at an academic medical center for whom plasma was obtained within 24 hours...
April 18, 2017: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/28418520/rapid-rule-out-of-acute-myocardial-infarction-with-a-single-high-sensitivity-cardiac-troponin-t-measurement-below-the-limit-of-detection-a-collaborative-meta-analysis
#17
John W Pickering, Martin P Than, Louise Cullen, Sally Aldous, Ewoud Ter Avest, Richard Body, Edward W Carlton, Paul Collinson, Anne Marie Dupuy, Ulf Ekelund, Kai M Eggers, Christopher M Florkowski, Yonathan Freund, Peter George, Steve Goodacre, Jaimi H Greenslade, Allan S Jaffe, Sarah J Lord, Arash Mokhtari, Christian Mueller, Andrew Munro, Sebbane Mustapha, William Parsonage, W Frank Peacock, Christopher Pemberton, A Mark Richards, Juan Sanchis, Lukas P Staub, Richard Troughton, Raphael Twerenbold, Karin Wildi, Joanna Young
Background: High-sensitivity assays for cardiac troponin T (hs-cTnT) are sometimes used to rapidly rule out acute myocardial infarction (AMI). Purpose: To estimate the ability of a single hs-cTnT concentration below the limit of detection (<0.005 µg/L) and a nonischemic electrocardiogram (ECG) to rule out AMI in adults presenting to the emergency department (ED) with chest pain. Data Sources: EMBASE and MEDLINE without language restrictions (1 January 2008 to 14 December 2016)...
April 18, 2017: Annals of Internal Medicine
https://www.readbyqxmd.com/read/28417992/eluxadoline-efficacy-in-ibs-d-patients-who-report-prior-loperamide-use
#18
Brian E Lacy, William D Chey, Brooks D Cash, Anthony J Lembo, Leonard S Dove, Paul S Covington
OBJECTIVES: Irritable bowel syndrome with diarrhea (IBS-D) is often managed with over-the-counter therapies such as loperamide, though with limited success. This analysis evaluated the efficacy of eluxadoline in patients previously treated with loperamide in two phase 3 studies. METHODS: Adults with IBS-D (Rome III criteria) were enrolled and randomized to placebo or eluxadoline (75 or 100 mg) twice daily for 26 (IBS-3002) or 52 (IBS-3001) weeks. Patients reported loperamide use over the previous year and recorded their rescue loperamide use during the studies...
April 18, 2017: American Journal of Gastroenterology
https://www.readbyqxmd.com/read/28409378/percutaneous-cholecystostomy-prognostic-factors-and-comparison-to-cholecystectomy
#19
Tyler J Loftus, Elisha M Collins, Camille G Dessaigne, Amber N Himmler, Alicia M Mohr, Ryan M Thomas, Charles E Hobson, George A Sarosi, William J Zingarelli
BACKGROUND: Data regarding long-term outcomes following percutaneous cholecystostomy (PC) are limited, and comparisons to cholecystectomy (CCY) are lacking. We hypothesized that chronic disease burden would predict 1-year mortality following PC, and that outcomes following PC and CCY would be similar when controlling for preprocedural risk factors. METHODS: We performed a 10-year retrospective cohort analysis of patients with acute cholecystitis managed by PC (n = 114) or CCY (n = 234)...
April 13, 2017: Surgical Endoscopy
https://www.readbyqxmd.com/read/28404863/individuals-with-progranulin-haploinsufficiency-exhibit-features-of-neuronal-ceroid-lipofuscinosis
#20
Michael E Ward, Robert Chen, Hsin-Yi Huang, Connor Ludwig, Maria Telpoukhovskaia, Ali Taubes, Helene Boudin, Sakura S Minami, Meredith Reichert, Philipp Albrecht, Jeffrey M Gelfand, Andres Cruz-Herranz, Christian Cordano, Marcel V Alavi, Shannon Leslie, William W Seeley, Bruce L Miller, Eileen Bigio, Marek-Marsel Mesulam, Matthew S Bogyo, Ian R Mackenzie, John F Staropoli, Susan L Cotman, Eric J Huang, Li Gan, Ari J Green
Heterozygous mutations in the GRN gene lead to progranulin (PGRN) haploinsufficiency and cause frontotemporal dementia (FTD), a neurodegenerative syndrome of older adults. Homozygous GRN mutations, on the other hand, lead to complete PGRN loss and cause neuronal ceroid lipofuscinosis (NCL), a lysosomal storage disease usually seen in children. Given that the predominant clinical and pathological features of FTD and NCL are distinct, it is controversial whether the disease mechanisms associated with complete and partial PGRN loss are similar or distinct...
April 12, 2017: Science Translational Medicine
keyword
keyword
74483
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"