keyword
MENU ▼
Read by QxMD icon Read
search

Williams syndrome

keyword
https://www.readbyqxmd.com/read/28323992/quantification-of-thyroid-cancer-and-multinodular-goiter-risk-in-the-dicer1-syndrome-a-family-based-cohort-study
#1
Nicholas E Khan, Andrew J Bauer, Kris Ann P Schultz, Leslie Doros, Rosamma M Decastro, Alexander Ling, Maya B Lodish, Laura A Harney, Ron G Kase, Ann G Carr, Christopher T Rossi, Amanda Field, Anne K Harris, Gretchen M Williams, Louis P Dehner, Yoav H Messinger, D Ashley Hill, Douglas R Stewart
Context: The risk of thyroid cancer and multinodular goiter (MNG) in the DICER1 syndrome, a rare tumor-predisposition disorder, is unknown. Objective: To quantify the risk of thyroid cancer and MNG in individuals with the DICER1 syndrome. Design: Family-based cohort study. Setting: National Institutes of Health (NIH) Clinical Center (CC). Participants: The National Cancer Institute DICER1 syndrome cohort consisted of 145 individuals with a DICER1 germline mutation and 135 family controls from 48 families...
February 2, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28317252/oculo-facio-cardio-dental-syndrome-with-craniosynostosis-temporal-hypertrichosis-and-deafness
#2
James J O'Byrne, Eoghan Laffan, Dylan J Murray, William Reardon
We report the case of a 7-month-old girl with atypical oculo-facio-cardio-dental syndrome (OFCD). A novel de novo pathogenic mutation in the BCL6 interacting co-repressor gene (BCOR) (c.4540C>T; p.Arg1514*), was identified on the X chromosome. This case expands the phenotype of OFCD as it is the first report of a case presenting with craniosynostois, temporal hypertrichosis, supraorbital grooving, and underdevelopment of the midface.
March 20, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28315974/inherited-dna-repair-gene-mutations-detected-by-tumor-next-generation-sequencing-in-urinary-tract-cancers
#3
Sumati Gupta, Samantha Greenberg, Jade Grimmett, David Gaston, Neeraj Agarwal, William Lowrance, Joshua Schiffman, Wendy Kohlmann
Interpretation of next-generation sequencing (NGS) of tumor tissue in patients with advanced Urinary Tract Cancer (UTC) is performed to guide treatment selection but may reveal pathogenic variants with germline implications. We identified three patients with UTC with unexpected germline DNA repair gene mutations. Specific testing for these was prompted by the detection of these mutations by tumor NGS. All three patients were nonsmokers with a strong family history of cancer. Two patients had upper tract UTC with age at diagnosis in the 40 s...
March 18, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28314579/keeping-the-customers-stratified-moving-toward-genetics-based-treatment-options-in-childhood-ns
#4
Megan Puckelwartz, H William Schnaper
In this issue, Bierzynska et al. report the results of analyzing a cohort of children with steroid-resistant nephrotic syndrome (SRNS) of childhood, correlating genetic studies with clinical outcomes. This approach has the potential to advance both our research into the causes and treatments of childhood SRNS and our ability to stratify patients into groups that are likely to be responsive to specific treatments. Here, we discuss some of the strengths and limitations of this report.
April 2017: Kidney International
https://www.readbyqxmd.com/read/28306327/fifty-years-of-research-in-ards-respiratory-mechanics-in-acute-respiratory-distress-syndrome
#5
William R Henderson, Lu Chen, Marcelo B P Amato, Laurent J Brochard
Acute respiratory distress syndrome is a multifactorial lung injury that continues to be associated with high levels of morbidity and mortality. Mechanical ventilation, while lifesaving, is associated with new iatrogenic injury. Current best practice involves the use of small tidal volumes, low plateau and driving pressures, and high levels of positive end expiratory pressure. Collectively, these interventions are termed "lung protective ventilation". Recent investigations suggest that individualized measurements of pulmonary mechanical variables rather than population based ventilation prescriptions may be used to set the ventilator with the potential to improve outcomes beyond those achieved with standard lung protective ventilation...
March 17, 2017: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/28304122/comparative-study-of-magnetic-resonance-defaecography-and-evacuation-proctography-in-the-evaluation-of-obstructed-defaecation
#6
A Zafa, C Seretis, M Feretis, S Karandikar, S C Williams, M Goldstein, M Chapman
AIM: Obstructed defaecation syndrome (ODS) is a common condition of multifactorial aetiology and requires specialised evaluation. Accurate and reproducible pelvic floor imaging is imperative for multidisciplinary decision-making. Evacuation Proctography (EP) and Magnetic Resonance Defaecography (MRD) are the main imaging modalities used to assess dynamic pelvic floor function. The aim of this prospective study was to compare the findings and acceptability of MRD and EP in the same cohort of patients...
March 17, 2017: Colorectal Disease: the Official Journal of the Association of Coloproctology of Great Britain and Ireland
https://www.readbyqxmd.com/read/28303641/myalgic-encephalomyelitis-chronic-fatigue-syndrome-and-gulf-war-illness-patients-exhibit-increased-humoral-responses-to-the-herpesviruses-encoded-dutpase-implications-in-disease-pathophysiology
#7
Peter Halpin, Marshall Vance Williams, Nancy G Klimas, Mary Ann Fletcher, Zachary Barnes, Maria Eugenia Ariza
Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) and Gulf War Illness (GWI) are debilitating diseases with overlapping symptomology and there are currently no validated tests for definitive diagnosis of either syndrome. While there is evidence supporting the premise that some herpesviruses may act as possible triggers of ME/CFS, the involvement of herpesviruses in the pathophysiology of GWI has not been studied in spite of a higher prevalence of ME/CFS in these patients. We have previously demonstrated that the deoxyuridine triphosphate nucleotidohydrolases (dUTPase) encoded by Epstein-Barr virus (EBV), human herpesvirus-6 (HHV-6), and varicella-zoster virus (VZV) possess novel functions in innate and adaptive immunity...
March 17, 2017: Journal of Medical Virology
https://www.readbyqxmd.com/read/28302712/improved-survival-after-acute-graft-vs-host-disease-diagnosis-in-the-modern-era
#8
Hanna J Khoury, Tao Wang, Michael T Hemmer, Daniel Couriel, Amin Alousi, Corey Cutler, Mahmoud Aljurf, Joseph H Antin, Mouhab Ayas, Minoo Battiwalla, Jean-Yves Cahn, Mitchell Cairo, Yi-Bin Chen, Robert Peter Gale, Shahrukh Hashmi, Robert J Hayashi, Madan Jagasia, Mark Juckett, Rammurti T Kamble, Mohamed Kharfan-Dabaja, Mark Litzow, Navneet Majhail, Alan Miller, Taiga Nishihori, Muna Qayed, Helene Schoemans, Harry C Schouten, Gérard Socié, Jan Storek, Leo Verdonck, Ravi Vij, William A Wood, Lolie Yu, Rodrigo Martino, Matthew Carabasi, Christopher Dandoy, Usama Gergis, Peiman Hematti, Melham Solh, Kareem Jamani, Leslie Lehmann, Bipin Savani, Kirk R Schultz, Baldeep M Wirk, Stephen Spellman, Mukta Arora, Joseph Pidala
Acute graft vs. host disease remains a major threat to successful outcome after allogeneic hematopoietic cell transplantation. While improvements in treatment and supportive care have occurred, it is unknown whether these advances have resulted in improved outcome specifically among those diagnosed with acute graft vs. host disease. We examined outcome following diagnosis of grade II-IV acute graft vs. host disease according to time period, and examine effects according to original graft vs. host disease prophylaxis regimen and maximum overall grade of acute GVHD...
March 16, 2017: Haematologica
https://www.readbyqxmd.com/read/28299795/interruption-to-antiplatelet-therapy-early-after-acute-ischaemic-stroke-a-nested-case-control-study
#9
Wardati Mazlan-Kepli, Rachael L MacIsaac, Matthew Walters, Philip Michael William Bath, Jesse Dawson
AIMS: Antiplatelet drugs are often discontinued early after ischaemic stroke, either because of poor compliance, complications or withdrawal of care. It is unclear whether this places patients at increased risk of recurrence. We explored the association between cardiovascular event rate and persistence with prescribed antiplatelet drugs. METHODS: We used a matched case-control design using the Virtual International Stroke Trials Archive (VISTA). Cases were patients who had an acute coronary syndrome, recurrent stroke or transient ischaemic attack within 90 days post-stroke and were matched for age ±10 years and sex with up to four controls...
March 16, 2017: British Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/28296950/cellular-and-molecular-defects-in-a-patient-with-hermansky-pudlak-syndrome-type-5
#10
Joshi Stephen, Tadafumi Yokoyama, Nathanial J Tolman, Kevin J O'Brien, Elena-Raluca Nicoli, Brian P Brooks, Laryssa Huryn, Steven A Titus, David R Adams, Dong Chen, William A Gahl, Bernadette R Gochuico, May Christine V Malicdan
Hermansky-Pudlak syndrome (HPS) is a heterogeneous group of genetic disorders typically manifesting with tyrosinase-positive oculocutaneous albinism, bleeding diathesis, and pulmonary fibrosis, in some subtypes. Most HPS subtypes are associated with defects in Biogenesis of Lysosome-related Organelle Complexes (BLOCs), which are groups of proteins that function together in the formation and/or trafficking of lysosomal-related endosomal compartments. BLOC-2, for example, consists of the proteins HPS3, HPS5, and HPS6...
2017: PloS One
https://www.readbyqxmd.com/read/28294132/5-ht2c-agonists-modulate-schizophrenia-like-behaviors-in-mice
#11
Vladimir M Pogorelov, Ramona M Rodriguiz, Jianjun Cheng, Mei Huang, Claire M Schmerberg, Herbert Y Meltzer, Bryan L Roth, Alan P Kozikowski, William C Wetsel
All FDA-approved antipsychotic drugs (APDs) target primarily dopamine D2 or serotonin (5-HT2A) receptors, or both; however, these medications are not universally effective, they may produce undesirable side-effects, and provide only partial amelioration of negative and cognitive symptoms. The heterogeneity of pharmacological responses in schizophrenic patients suggests additional drug-targets may be effective in improving aspects of this syndrome. Recent evidence suggests that 5-HT2C receptors may be a promising target for schizophrenia since their activation reduces mesolimbic nigrostriatal dopamine release (which conveys antipsychotic action), they are expressed almost exclusively in CNS, and have weight-loss promoting capabilities...
March 15, 2017: Neuropsychopharmacology: Official Publication of the American College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/28293668/the-prevalence-of-metabolic-syndrome-and-its-components-among-people-with-type-2-diabetes-in-the-ho-municipality-ghana-a-cross-sectional-study
#12
James Osei-Yeboah, William K B A Owiredu, Gameli Kwame Norgbe, Sylvester Yao Lokpo, Jones Gyamfi, Emmanuel Alote Allotey, Romeo Asumbasiya Aduko, Mark Noagbe, Florence A Attah
The cooccurrence of diabetes mellitus and metabolic syndrome potentiates the cardiovascular risk associated with each of the conditions; therefore characterizing metabolic syndrome among people with type 2 diabetes is beneficial for the purpose of cardiovascular disease prevention. This study aims at evaluating the prevalence of metabolic syndrome and its components among 162 patients with type 2 diabetes attending the diabetic clinic of the Ho Municipal Hospital, Ghana. Data obtained included anthropometric indices, blood pressure, serum lipids, glucose, and sociodemographics and clinical information...
2017: International Journal of Chronic Diseases
https://www.readbyqxmd.com/read/28291620/pacing-in-congenital-heart-disease-a-four-decade-experience-in-a-single-tertiary-centre
#13
Disha Midha, Zhong Chen, David G Jones, Howell J Williams, Karen Lascelles, Julian Jarman, Jonathan Clague, Janice Till, Konstatinos Dimopoulos, Sonya V Babu-Narayan, Vias Markides, Michael A Gatzoulis, Tom Wong
BACKGROUND: The increased risk of brady- and tachy-arrhythmias in the congenital heart disease (CHD) population means that cardiac rhythm management devices are often required at an early age and expose patients to device-related complications. The present study drew upon four decades of experience at a tertiary adult congenital heart disease ACHD center and aimed to investigate the indication for cardiac implantable electronic devices (CIEDs) and predictors of late device-related complication requiring re-intervention...
March 6, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28288139/mice-deleted-for-cell-division-cycle-73-gene-develop-parathyroid-and-uterine-tumours-model-for-the-hyperparathyroidism-jaw-tumour-syndrome
#14
G V Walls, M Stevenson, K E Lines, P J Newey, A A C Reed, M R Bowl, J Jeyabalan, B Harding, K J Bradley, S Manek, J Chen, P Wang, B O Williams, B T Teh, R V Thakker
The hyperparathyroidism-jaw tumour (HPT-JT) syndrome is an autosomal dominant disorder characterized by occurrence of parathyroid tumours, often atypical adenomas and carcinomas, ossifying jaw fibromas, renal tumours and uterine benign and malignant neoplasms. HPT-JT is caused by mutations of the cell division cycle 73 (CDC73) gene, located on chromosome 1q31.2 and encodes a 531 amino acid protein, parafibromin. To facilitate in vivo studies of Cdc73 in tumourigenesis we generated conventional (Cdc73(+/-)) and conditional parathyroid-specific (Cdc73(+/L)/PTH-Cre and Cdc73(L/L)/PTH-Cre) mouse models...
March 13, 2017: Oncogene
https://www.readbyqxmd.com/read/28288080/management-of-pediatric-type-i-open-fractures-in-the-emergency-department-or-operating-room-a-multicenter-perspective
#15
Jenna Godfrey, Paul D Choi, Lior Shabtai, Sarah B Nossov, Amy Williams, Antoinette W Lindberg, Selina Silva, Michelle S Caird, Mathew D Schur, Alexandre Arkader
BACKGROUND: The management of pediatric type I open fractures remains controversial. The aim of this study is to compare outcomes in type I open fractures managed with superficial wound debridement and antibiotics in the emergency department (ED) (nonoperative management) to patients managed with operative debridement and antibiotics (operative management). METHODS: A multicenter retrospective review was performed of all pediatric type I open forearm, wrist, and tibia fractures treated at 4 high volume pediatric centers between 2000 and 2015...
March 10, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28287063/fatal-severe-coronary-artery-stenosis-in-williams-syndrome-decision-making-using-late-gadolinium-enhancement-cardiovascular-mri
#16
Inga Voges, Rodney C Franklin, Ricardo Wage, Sonya V Babu-Narayan
Williams syndrome is a well-recognised congenital disorder characterised by cardiovascular, connective tissue, and central nervous system abnormalities. Coronary artery abnormalities are seen in patients with supravalvar aortic stenosis, but end-stage ischaemic heart disease is rare. We report a case of end-stage ischaemic heart disease due to severe coronary arterial stenosis, highlighting how cardiovascular MRI contributed to the management.
March 13, 2017: Cardiology in the Young
https://www.readbyqxmd.com/read/28287055/congenital-pulmonary-lymphangiectasia-and-early-mortality-after-stage-1-reconstruction-procedures
#17
Jeremy L Herrmann, Mallory L Irons, Christopher E Mascio, Jack Rychik, Thomas L Spray, J William Gaynor, Jennifer E Pogoriler
OBJECTIVES: Pulmonary lymphangiectasia associated with hypoplastic left heart syndrome with an intact or restrictive atrial septum may result from increased left atrial pressure, and is associated with worse outcomes following staged reconstruction due to lung dysfunction and significant hypoxaemia. Our objective was to characterise the incidence of pulmonary lymphangiectasia in cases of early mortality following stage 1 reconstructions. METHODS: An institutional cardiac surgical database was retrospectively searched for patients who died within 30 days following a stage 1 reconstruction between 1 January, 1984 and 31 December, 2013...
March 13, 2017: Cardiology in the Young
https://www.readbyqxmd.com/read/28286799/a-30-year-old-man-with-three-primary-malignancies-a-case-of-constitutional-mismatch-repair-deficiency
#18
William Rengifo-Cam, Kory Jasperson, Ignacio Garrido-Laguna, Howard Colman, Courtney Scaife, Wade Samowitz, N Jewel Samadder
Constitutional mismatch repair deficiency (CMMRD) is a devastating cancer predisposition syndrome for which clinical manifestations, genetic screening, and cancer prevention strategies are limited. We report a case of CMMRD presenting with metachronous colorectal cancer and brain cancer. Oncologists and gastroenterologists should be aware of the CMMRD syndrome as a rare cause of very early-onset colorectal cancer.
2017: ACG Case Reports Journal
https://www.readbyqxmd.com/read/28286165/disparate-domains-klebsiella-pneumoniae-liver-abscess-syndrome
#19
Jacquelyn R Sink, William A Pasculle, Neel B Shah, Emanuel N Vergis
No abstract text is available yet for this article.
March 9, 2017: American Journal of Medicine
https://www.readbyqxmd.com/read/28284214/diagnostic-accuracy-of-blood-sucrose-as-a-screening-test-for-equine-gastric-ulcer-syndrome-egus-in-adult-horses
#20
Michael Hewetson, Ben William Sykes, Gayle Davina Hallowell, Riitta-Mari Tulamo
BACKGROUND: Equine gastric ulcer syndrome (EGUS) is common in adult horses, particularly those involved in performance disciplines. Currently, detection of EGUS by gastroscopy is the only reliable ante mortem method for definitive diagnosis; however it is unsuitable as a screening test because it is expensive, time consuming, and is not readily available to most veterinarians. Sucrose permeability testing represents a simple, economical alternative to gastroscopy for screening purposes, and the feasibility of this approach in the horse has been previously reported...
March 11, 2017: Acta Veterinaria Scandinavica
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"