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https://www.readbyqxmd.com/read/28542371/whole-genome-sequencing-of-spermatocytic-tumors-provides-insights-into-the-mutational-processes-operating-in-the-male-germline
#1
Eleni Giannoulatou, Geoffrey J Maher, Zhihao Ding, Ad J M Gillis, Lambert C J Dorssers, Alexander Hoischen, Ewa Rajpert-De Meyts, Gilean McVean, Andrew O M Wilkie, Leendert H J Looijenga, Anne Goriely
Adult male germline stem cells (spermatogonia) proliferate by mitosis and, after puberty, generate spermatocytes that undertake meiosis to produce haploid spermatozoa. Germ cells are under evolutionary constraint to curtail mutations and maintain genome integrity. Despite constant turnover, spermatogonia very rarely form tumors, so-called spermatocytic tumors (SpT). In line with the previous identification of FGFR3 and HRAS selfish mutations in a subset of cases, candidate gene screening of 29 SpTs identified an oncogenic NRAS mutation in two cases...
2017: PloS One
https://www.readbyqxmd.com/read/28515081/flexible-ammonia-handling-strategies-using-both-cutaneous-and-branchial-epithelia-in-the-highly-ammonia-tolerant-pacific-hagfish
#2
Alexander M Clifford, Alyssa M Weinrauch, Susan L Edwards, Michael P Wilkie, Greg G Goss
Hagfish consume carrion, potentially exposing them to hypoxia, hypercarbia, and high environmental ammonia (HEA). We investigated branchial and cutaneous ammonia handling strategies by which Pacific hagfish (Eptatretus stoutii) tolerate and recover from high ammonia loading. Hagfish were exposed to HEA (20 mmol L(-1)) for 48 h to elevate plasma total ammonia (TAmm) levels before placement into divided chambers for a 4 h recovery period in ammonia-free seawater where ammonia excretion (JAmm) was measured independently in the anterior and posterior compartments...
May 17, 2017: American Journal of Physiology. Regulatory, Integrative and Comparative Physiology
https://www.readbyqxmd.com/read/28512160/improving-the-impact-of-peritoneal-dialysis-research
#3
EDITORIAL
Martin Wilkie
No abstract text is available yet for this article.
May 2017: Peritoneal Dialysis International: Journal of the International Society for Peritoneal Dialysis
https://www.readbyqxmd.com/read/28506103/treatment-seeking-behaviors-of-persons-with-rheumatoid-arthritis
#4
Judith M Schlaeger, Keesha Roach, Mary Golas, Miho Takayama, Diana J Wilkie
PURPOSE: Describe perceptions of patients with rheumatoid arthritis (RA) regarding disease-related pain, tendency to tell others about their pain, and treatments used since diagnosis. DESIGN: Cross sectional, exploratory. METHOD: A total of 63 participants responded to telephone interview about their treatments and tendency to tell others about their RA pain. They also responded to McGill Pain Questionnaire and Health Assessment Questionnaire (HAQ) items...
January 1, 2017: Journal of Holistic Nursing: Official Journal of the American Holistic Nurses' Association
https://www.readbyqxmd.com/read/28481964/evidence-for-strategies-that-improve-recruitment-and-retention-of-adults-aged-65-years-and-over-in-randomised-trials-and-observational-studies-a-systematic-review
#5
Rosie J Lacey, Ross Wilkie, Gwenllian Wynne-Jones, Joanne L Jordan, Emily Wersocki, John McBeth
Background: adults aged ≥65 years are often excluded from health research studies. Lack of representation reduces generalisability of treatments for this age group. Objective: to evaluate the effectiveness of strategies that improve recruitment and retention of adults aged ≥65 in observational studies and randomised controlled trials (RCTs). Methods: searches conducted in 10 databases for RCTs of recruitment and retention strategies in RCTs or observational studies...
May 8, 2017: Age and Ageing
https://www.readbyqxmd.com/read/28481073/-superior-mesenteric-artery-syndrome-a-case-report-and-review-of-the-literature
#6
A Pastén González, A Muñoz Araneda, A Peirano Bastías, S Rojas Castro, V Henríquez Alessandrini
INTRODUCTION: Superior mesenteric artery syndrome (SMAS) or Wilkie syndrome is a rare disease in the pediatric population. Although their causes are generally well known, the clinic is often subtle, so reaching a diagnosis can be difficult. There are medical and surgical treatment options, which depend on each patient. CLINICAL CASE: Our study shows an atypical case of SAMS, which debuted in a 13-year-old boy without previous diseases, and without a history of risk factors for this pathology...
October 10, 2016: Cirugía Pediátrica: Organo Oficial de la Sociedad Española de Cirugía Pediátrica
https://www.readbyqxmd.com/read/28441936/rationale-and-design-of-bistro-a-randomized-controlled-trial-to-determine-whether-bioimpedance-spectroscopy-guided-fluid-management-maintains-residual-kidney-function-in-incident-haemodialysis-patients
#7
Simon J Davies, Fergus J Caskey, David Coyle, Elizabeth Lindley, Jamie Macdonald, Sandip Mitra, Martin Wilkie, Andrew Davenport, Ken Farrington, Indranil Dasgupta, Paula Ormandy, Lazaros Andronis, Ivonne Solis-Trapala, Julius Sim
BACKGROUND: Preserved residual kidney function (RKF) and normal fluid status are associated with better patient outcomes in incident haemodialysis patients. The objective of this trial is to determine whether using bioimpedance technology in prescribing the optimal post-dialysis weight can reduce the rate of decline of RKF and potentially improve patient outcomes. METHODS/DESIGN: 516 pateints commencing haemodialysis, aged >18 with RKF of > 3 ml/min/1...
April 26, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28433048/-wilkies-syndrome-a-rare-cause-of-duodenal-obstruction-in-an-adult-female-patient
#8
L Ciesar
Wilkies syndrome or superior mesenteric artery syndrome is a rare cause of obstruction of the upper part of the gastrointestinal tract caused by compression of the third part of the duodenum between the abdominal aorta and the superior mesenteric artery at its origin. Partial or complete compression of the duodenum is caused by a decreased aortomesenteric angle. In this paper, the authors present the case report of a patient with chronic upper abdominal ileus. The clinical course of the illness, symptoms and surgical treatment of the patient are presented...
2017: Rozhledy V Chirurgii: Měsíčník Československé Chirurgické Společnosti
https://www.readbyqxmd.com/read/28386950/gastrointestinal-disorders-in-curry-jones-syndrome-clinical-and-molecular-insights-from-an-affected-newborn
#9
Kristen Wigby, Stephen R F Twigg, Ryan Broderick, Katherine P Davenport, Andrew O M Wilkie, Stephen W Bickler, Marilyn C Jones
Curry-Jones syndrome (CJS) is a pattern of malformation that includes craniosynostosis, pre-axial polysyndactyly, agenesis of the corpus callosum, cutaneous and gastrointestinal abnormalities. A recurrent, mosaic mutation of SMO (c.1234 C>T; p.Leu412Phe) causes CJS. This report describes the gastrointestinal and surgical findings in a baby with CJS who presented with abdominal obstruction and reviews the spectrum of gastrointestinal malformations in this rare disorder. A 41-week, 4,165 g, female presented with craniosynostosis, pre-axial polysyndactyly, and cutaneous findings consistent with a clinical diagnosis of CJS...
June 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28386437/sensorimotor-control-dynamics-and-cultural-biases-learning-to-move-in-the-right-or-left-direction
#10
Amanda H Waterman, Oscar T Giles, Jelena Havelka, Sumaya Ali, Peter R Culmer, Richard M Wilkie, Mark Mon-Williams
The nativist hypothesis suggests universal features of human behaviour can be explained by biologically determined cognitive substrates. This nativist account has been challenged recently by evolutionary models showing that the cultural transmission of knowledge can produce behavioural universals. Sensorimotor invariance is a canonical example of a behavioural universal, raising the issue of whether culture can influence not only which skills people acquire but also the development of the sensorimotor system...
February 2017: Royal Society Open Science
https://www.readbyqxmd.com/read/28376979/role-of-depressive-symptoms-in-mediating-socioeconomic-disparities-in-diabetes-risk-misperception
#11
Sarah K Wilkie, William K Bleser, Patricia Y Miranda, Rhonda BeLue
OBJECTIVES: In the U.S., type 2 diabetes awareness remains low among individuals at risk. Unawareness poses risk of developing comorbidities, commonly depression, which would harm physical and mental health and well-being. This study builds off previous findings identifying significant differences in accurate diabetes perception by race/ethnicity, sex, age, and self-rated health. This study explores depressive symptoms as a mediator and potential explanation for significant associations between determinants of risk and incorrect perception of risk when at risk...
May 1, 2017: American Journal of Health Behavior
https://www.readbyqxmd.com/read/28376701/mild-and-mild-to-moderate-traumatic-brain-injury-tbi-induced-significant-progressive-and-enduring-multiple-comorbidities
#12
Jiamei Hou, Rachel Nelson, Zachary Wilkie, Golam Mustafa, Shigeharu Tsuda, Floyd J Thompson, Prodip K Bose
Traumatic brain injury (TBI) can produce life-long disabilities including anxiety, cognitive, balance, and motor deficits. The experimental model of closed head TBI (cTBI) induced by weight drop / impact acceleration is known to produce hallmark TBI injuries. However, comprehensive long-term characterization of co-morbidities induced by graded mild to mild/moderate intensities using this experimental cTBI model has not been reported. The present study used two intensities of weight drop (1.0 m and 1.25 m/450 g) to produce cTBI in a rat model to investigate initial and long-term disability of four comorbidities: anxiety, cognitive, vestibulomotor, and spinal reflex that related to spasticity...
April 4, 2017: Journal of Neurotrauma
https://www.readbyqxmd.com/read/28369379/localized-twist1-and-twist2-basic-domain-substitutions-cause-four-distinct-human-diseases-that-can-be-modeled-in-caenorhabditis-elegans
#13
Sharon Kim, Stephen R F Twigg, Victoria A Scanlon, Aditi Chandra, Tyler J Hansen, Arwa Alsubait, Aimee L Fenwick, Simon J McGowan, Helen Lord, Tracy Lester, Elizabeth Sweeney, Astrid Weber, Helen Cox, Andrew O M Wilkie, Andy Golden, Ann K Corsi
Twist transcription factors, members of the basic helix-loop-helix family, play crucial roles in mesoderm development in all animals. Humans have two paralogous genes, TWIST1 and TWIST2, and mutations in each gene have been identified in specific craniofacial disorders. Here, we describe a new clinical entity, Sweeney-Cox syndrome, associated with distinct de novo amino acid substitutions (p.Glu117Val and p.Glu117Gly) at a highly conserved glutamic acid residue located in the basic DNA binding domain of TWIST1, in two subjects with frontonasal dysplasia and additional malformations...
June 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28368496/characterization-of-human-cytomegalovirus-genome-diversity-in-immunocompromised-hosts-by-whole-genomic-sequencing-directly-from-clinical-specimens
#14
E Hage, G S Wilkie, S Linnenweber-Held, A Dhingra, N M Suárez, J J Schmidt, P Kay-Fedorov, E Mischak-Weissinger, A Heim, A Schwarz, T F Schulz, A J Davison, T Ganzenmueller
Background: Advances in next-generation sequencing (NGS) technologies allow comprehensive studies of genetic diversity over the entire genome of human cytomegalovirus (HCMV), a significant pathogen for immunocompromised individuals. Methods: NGS was performed on target-enriched sequence libraries prepared directly from a variety of clinical specimens (blood, urine, breast-milk, respiratory samples, biopsies and vitreous humor) obtained longitudinally or from different anatomical compartments from 20 HCMV-infected patients (renal transplant recipients, stem cell transplant recipients and congenitally infected children)...
March 27, 2017: Journal of Infectious Diseases
https://www.readbyqxmd.com/read/28360362/rising-to-the-challenge-of-antimicrobial-resistance
#15
EDITORIAL
Martin Wilkie, Cheuk-Chun Szeto
No abstract text is available yet for this article.
March 2017: Peritoneal Dialysis International: Journal of the International Society for Peritoneal Dialysis
https://www.readbyqxmd.com/read/28348061/alternative-polyadenylation-directs-tissue-specific-mirna-targeting-in-caenorhabditis-elegans-somatic-tissues
#16
Stephen M Blazie, Heather C Geissel, Henry Wilky, Rajan Joshi, Jason Newbern, Marco Mangone
mRNA expression dynamics promotes and maintains the identity of somatic tissues in living organisms, however, its impact in post-transcriptional gene regulation in these processes is not fully understood. Here, we have applied the PAT-Seq approach to systematically isolate, sequence, and map tissue specific mRNA from five highly studied Caenorhabditis elegans somatic tissues: GABAergic and NMDA neurons, arcade and intestinal valve cells, seam cells and hypodermal tissues, and studied their mRNA expression dynamics...
March 27, 2017: Genetics
https://www.readbyqxmd.com/read/28327571/insights-from-early-experience-of-a-rare-disease-genomic-medicine-multidisciplinary-team-a-qualitative-study
#17
Elizabeth Ormondroyd, Michael P Mackley, Edward Blair, Jude Craft, Julian C Knight, John Taylor, Jenny C Taylor, Andrew Om Wilkie, Hugh Watkins
Whole-exome/whole-genome sequencing (WES/WGS) has the potential to enhance genetic diagnosis of rare disease, and is increasingly becoming part of routine clinical care in mainstream medicine. Effective translation will require ongoing efforts in a number of areas including: selection of appropriate patients, provision of effective consent, pre- and post-test genetic counselling, improving variant interpretation algorithms and practices, and management of secondary findings including those found incidentally and those actively sought...
June 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28294632/do-vulvodynia-tcm-patterns-differ-by-pain-types-beginning-evidence-supporting-the-concept
#18
Judith M Schlaeger, Hui Yan Cai, Xu Nenggui, Alana D Steffens, Wang Lin, Diana J Wilkie
INTRODUCTION: Vulvodynia affects a maximum of 14 million U.S. women; however, it has not been adequately characterized. Traditional Chinese Medicine (TCM) offers pattern diagnoses that may be considered vulvodynia phenotypes and may guide the development of more targeted treatments. OBJECTIVES: In women with vulvodynia, to explore relationships between the TCM patterns and pain. DESIGN/METHODS: In an exploratory study, 36 women diagnosed with vulvodynia had a TCM assessment and completed the Short Form McGill Pain Questionnaire (SF-MPQ)...
May 2017: Journal of Alternative and Complementary Medicine: Research on Paradigm, Practice, and Policy
https://www.readbyqxmd.com/read/28255085/effects-of-inspiratory-muscle-training-on-respiratory-muscle-electromyography-and-dyspnea-during-exercise-in-healthy-men
#19
Andrew H Ramsook, Yannick Molgat-Seon, Michele R Schaeffer, Sabrina S Wilkie, Pat G Camp, W Darlene Reid, Lee M Romer, Jordan A Guenette
Inspiratory muscle training (IMT) has consistently been shown to reduce exertional dyspnea in health and disease; however, the physiological mechanisms remain poorly understood. A growing body of literature suggests that dyspnea intensity can largely be explained by an awareness of increased neural respiratory drive, as indirectly measured using diaphragmatic electromyography (EMGdi). Accordingly, we sought to determine if improvements in dyspnea following IMT can be explained by decreases in inspiratory muscle EMG activity...
March 2, 2017: Journal of Applied Physiology
https://www.readbyqxmd.com/read/28245428/from-vision-to-reality-deploying-the-immune-system-for-treatment-of-sarcoma
#20
Breelyn A Wilky, John M Goldberg
Modern immunotherapy advances including checkpoint inhibitors and adoptive T cell therapy have created a new era of cancer treatment, with significant activities in a wide variety of hematologic and solid cancers. Sarcomas are rare and aggressive malignancies of bone and soft tissue affecting all ages of patients that are usually incurable when refractory to chemotherapy and surgery. However, a subset of patients with metastatic sarcoma will survive for years, suggesting that immune suppression of residual sarcoma cells may be effective in some cases...
January 2017: Discovery Medicine
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