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https://www.readbyqxmd.com/read/28637615/cancer-predisposition-syndromes-associated-with-myeloid-malignancy
#1
REVIEW
Emily Quinn, Kim E Nichols
The majority of myeloid malignancies are caused by sporadic somatic events rather than cancer predisposition. Nonetheless, the identification of hereditary cancer predisposition syndromes is critical when caring for patients with myeloid malignancies since detection may direct decisions related to cancer treatment and surveillance. A positive genetic test result also has important implications for other family members who can use this information to undergo their own testing to determine their cancer risk. We review the demographics, genetic mechanisms of disease, diagnostic approach, malignancy risk, and management for the following five cancer predisposition syndromes associated with myeloid malignancies: Li-Fraumeni, constitutional mismatch repair deficiency, Werner, Bloom, and Nijmegen breakage...
April 2017: Seminars in Hematology
https://www.readbyqxmd.com/read/28628474/prediction-of-human-iron-bioavailability-using-rapid-c-elisas-for-human-plasma-hepcidin
#2
Nicole U Stoffel, Christophe Zeder, Eloïse Fort, Dorine W Swinkels, Michael B Zimmermann, Diego Moretti
BACKGROUND: Hepcidin is the central systemic regulator of iron metabolism, but its quantification in biological fluids is challenging. Rapid, accurate and user-friendly methods are needed. Our aim was to assess the ability of hepcidin as measured by three different c-ELISA assays to predict iron bioavailability in humans. METHODS: The three assays used were commercially available DRG and Peninsula assays and the c-ELISA method performed at Radboud University Medical Centre, Nijmegen, The Netherlands (Hepcidinanalysis...
June 17, 2017: Clinical Chemistry and Laboratory Medicine: CCLM
https://www.readbyqxmd.com/read/28619295/effects-of-massage-therapy-on-anxiety-depression-hyperventilation-and-quality-of-life-in-hiv-infected-patients-a-randomized-controlled-trial
#3
Reychler Gregory, Caty Gilles, Arcq Aude, Lebrun Laurie, Belkhir Leïla, Yombi Jean-Cyr, Marot Jean-Christophe
INTRODUCTION: HIV infection is often preceded or accompanied by psychiatric comorbidities. These disorders improve with complementary therapies. The aim of this study was to measure the effect of massage therapy on anxiety, depression, hyperventilation and quality of life in HIV infected patients. METHOD: Adult HIV-infected patients were randomized (n=29) in massage therapy group (one hour a week during four weeks) and control group. Anxiety and depression (HADS-A and HADS-D), hyperventilation (Nijmegen questionnaire) and quality of life (WHOQOL-HIV) were evaluated at inclusion and after 4 weeks...
June 2017: Complementary Therapies in Medicine
https://www.readbyqxmd.com/read/28606965/low-disease-activity-das28%C3%A2-3-2-reduces-the-risk-of-first-cardiovascular-event-in-rheumatoid-arthritis-a-time-dependent-cox-regression-analysis-in-a-large-cohort-study
#4
Elke Ea Arts, Jaap Fransen, Alfons A Den Broeder, Piet L C M van Riel, Calin D Popa
OBJECTIVE: Systemic inflammation appears to contribute to the excess risk of cardiovascular disease (CVD) in rheumatoid arthritis (RA). The objective of this study was to investigate the effect of different levels of disease activity over time, particularly low disease activity and remission, on CVD risk in patients with RA. METHODS: Data from the Nijmegen early RA inception cohort were used. The primary outcome was first CVD events within the first 10 years of follow-up...
June 12, 2017: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/28605206/the-effect-of-a-holistic-self-management-plan-on-asthma-control
#5
Eirini Grammatopoulou, Emmanouil K Skordilis, Aikaterini Haniotou, Zarotis John, Spyros Athanasopoulos
The holistic self-management plan includes lifelong actions that enable patients to cope with their disease. The present study was designed to evaluate the effect of a holistic self-management plan on asthma control. A 12-month controlled study was conducted. Adult patients with mild-to-moderate asthma (n = 24) who attended the emergency asthma department were randomized to two groups: One group followed four educational sessions and three personal home sessions (n = 12), while a second group received a short manual with asthma information (n = 12)...
June 12, 2017: Physiotherapy Theory and Practice
https://www.readbyqxmd.com/read/28602152/physical-activity-and-cognitive-function-of-long-distance-walkers-studying-four-days-marches-participants
#6
Hans Wouters, Teun Aalbers, Martijn Maessen, André Verbeek, Marcel Olde Rikkert, Roy Kessels, Maria Hopman, Thijs Eijsvogels
OBJECTIVE: Studies show physical activity to be beneficial for cognitive function. However, studies usually included individuals who were not particularly inclined to exercise. Following research among master athletes, we examined associations between physical activity and cognitive function in participants of the International Nijmegen Four Days Marches. These individuals are also inclined to exercise. On 4 consecutive days > 40,000 participants walk a daily distance of 30-50 km (120-200 km or 75-125 miles in total)...
June 10, 2017: Rejuvenation Research
https://www.readbyqxmd.com/read/28600370/substituting-physicians-with-nurse-practitioners-physician-assistants-or-nurses-in-nursing-homes-protocol-for-a-realist-evaluation-case-study
#7
Marleen Hermien Lovink, Anke Persoon, Anneke Jah van Vught, Lisette Schoonhoven, Raymond Tcm Koopmans, Miranda Gh Laurant
INTRODUCTION: In developed countries, substituting physicians with nurse practitioners, physician assistants and nurses (physician substitution) occurs in nursing homes as an answer to the challenges related to the ageing population and the shortage of staff, as well as to guarantee the quality of nursing home care. However, there is great diversity in how physician substitution in nursing homes is modelled and it is unknown how it can best contribute to the quality of healthcare. This study aims to gain insight into how physician substitution is modelled and whether it contributes to perceived quality of healthcare...
June 8, 2017: BMJ Open
https://www.readbyqxmd.com/read/28572264/recommendations-for-childhood-cancer-screening-and-surveillance-in-dna-repair-disorders
#8
REVIEW
Michael F Walsh, Vivian Y Chang, Wendy K Kohlmann, Hamish S Scott, Christopher Cunniff, Franck Bourdeaut, Jan J Molenaar, Christopher C Porter, John T Sandlund, Sharon E Plon, Lisa L Wang, Sharon A Savage
DNA repair syndromes are heterogeneous disorders caused by pathogenic variants in genes encoding proteins key in DNA replication and/or the cellular response to DNA damage. The majority of these syndromes are inherited in an autosomal-recessive manner, but autosomal-dominant and X-linked recessive disorders also exist. The clinical features of patients with DNA repair syndromes are highly varied and dependent on the underlying genetic cause. Notably, all patients have elevated risks of syndrome-associated cancers, and many of these cancers present in childhood...
June 1, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28529479/in-patients-undergoing-cochlear-implantation-psychological-burden-affects-tinnitus-and-the-overall-outcome-of-auditory-rehabilitation
#9
Petra Brüggemann, Agnieszka J Szczepek, Katharina Klee, Stefan Gräbel, Birgit Mazurek, Heidi Olze
Cochlear implantation (CI) is increasingly being used in the auditory rehabilitation of deaf patients. Here, we investigated whether the auditory rehabilitation can be influenced by the psychological burden caused by mental conditions. Our sample included 47 patients who underwent implantation. All patients were monitored before and 6 months after CI. Auditory performance was assessed using the Oldenburg Inventory (OI) and Freiburg monosyllable (FB MS) speech discrimination test. The health-related quality of life was measured with Nijmegen Cochlear implantation Questionnaire (NCIQ) whereas tinnitus-related distress was measured with the German version of Tinnitus Questionnaire (TQ)...
2017: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/28487670/cochlear-implantation-of-bilaterally-deafened-patients-with-tinnitus-induces-sustained-decrease-of-tinnitus-related-distress
#10
Steffen Knopke, Agnieszka J Szczepek, Sophia Marie Häussler, Stefan Gräbel, Heidi Olze
OBJECTIVE: Tinnitus is a common symptom of hearing impairment. Patients who are bilaterally hard of hearing are often affected by tinnitus. However, they cannot undergo any of the standard tinnitus therapies, since they rely on hearing. Cochlear implantation (CI) used to treat severe hearing disabilities, such as bilateral hearing loss, was also shown to reduce tinnitus. Our goal was to determine if CI induces sustained reduction of tinnitus. We performed prospective, longitudinal analyses of tinnitus-related distress in a uniform group of bilaterally deafened patients after CI...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28477133/dna-damage-response-in-human-stem-cells-and-neural-descendants
#11
Jason M Beckta, Bret R Adams, Kristoffer Valerie
Glial cells are crucial for the normal function of neurons and are intricately involved in the pathogenesis of neurodegenerative diseases as well as neurologic malignancies. A deeper understanding of the mechanisms by which glial cells influence the development of such pathologies will undoubtedly lead to new and improved therapeutic approaches. Commercially available human embryonic stem cells (hESCs) and induced pluripotent stem cells (iPSCs), both of which can be differentiated into neural progenitors (NPs) and various neural cell lineages, have become widely used as sources for producing normal human central nervous system (CNS) cells...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28452830/first-aid-treatment-for-friction-blisters-walking-into-the-right-direction
#12
Lando Janssen, Neeltje A E Allard, Dominique S M Ten Haaf, Cees P P van Romburgh, Thijs M H Eijsvogels, Maria T E Hopman
OBJECTIVE: Blisters are common foot injuries during and after prolonged walking. However, the best treatment remains unclear. The aim of the study was to compare the effect of 2 different friction blister treatment regimens, wide area fixation dressing versus adhesive tape. DESIGN: A prospective observational cohort study. SETTING: The 2015 Nijmegen Four Days Marches in the Netherlands. PARTICIPANTS: A total of 2907 participants (45 ± 16 years, 52% men) were included and received 4131 blister treatments...
April 27, 2017: Clinical Journal of Sport Medicine: Official Journal of the Canadian Academy of Sport Medicine
https://www.readbyqxmd.com/read/28441693/sex-differences-in-fat-distribution-influence-the-association-between-bmi-and-arterial-stiffness
#13
Inge C L van den Munckhof, Suzanne Holewijn, Jacqueline de Graaf, Joost H W Rutten
CONTEXT AND OBJECTIVE: The increase in arterial stiffness in patients with the metabolic syndrome is strongly related to the amount of visceral adipose tissue. In clinical practice, anthropometric measurements such as BMI and waist circumference are commonly used to assess general and abdominal adiposity. Waist circumference is a composite measure of subcutaneous and visceral abdominal adipose tissue. As the distribution of intra-abdominal fat differs between men and women, we investigated the sex-specific associations between different anthropometric measures for general and abdominal obesity with arterial stiffness...
June 2017: Journal of Hypertension
https://www.readbyqxmd.com/read/28439719/radiological-imaging-of-teratological-fetuses-what-can-we-learn
#14
REVIEW
Lucas L Boer, A N Schepens-Franke, J J A van Asten, D G H Bosboom, K Kamphuis-van Ulzen, T L Kozicz, D J Ruiter, R-J Oostra, W M Klein
OBJECTIVES: To determine the advantages of radiological imaging of a collection of full-term teratological fetuses in order to increase their scientific and educational value. BACKGROUND : Anatomical museums around the world exhibit full-term teratological fetuses. Unfortunately, these museums are regularly considered as "morbid cabinets". Detailed dysmorphological information concerning the exhibited specimens is often lacking. Moreover, fetuses with severe and complex congenital anomalies are frequently diagnosed incompletely, incorrectly or not at all...
June 2017: Insights Into Imaging
https://www.readbyqxmd.com/read/28430587/parkin-regulates-translesion-dna-synthesis-in-response-to-uv-radiation
#15
Xuefei Zhu, Xiaolu Ma, Yingfeng Tu, Min Huang, Hongmei Liu, Fengli Wang, Juanjuan Gong, Jiuqiang Wang, Xiaoling Li, Qian Chen, Hongyan Shen, Shu Zhu, Yun Wang, Yang Liu, Caixia Guo, Tie-Shan Tang
Deficiency of Parkin is a major cause of early-onset Parkinson's disease (PD). Notably, PD patients also exhibit a significantly higher risk in melanoma and other skin tumors, while the mechanism remains largely unknown. In this study, we show that depletion of Parkin causes compromised cell viability and genome stability after ultraviolet (UV) radiation. We demonstrate that Parkin promotes efficient Rad18-dependent proliferating cell nuclear antigen (PCNA) monoubiquitination by facilitating the formation of Replication protein A (RPA)-coated ssDNA upon UV radiation...
May 30, 2017: Oncotarget
https://www.readbyqxmd.com/read/28407251/investigating-hyperventilation-syndrome-in-patients-suffering-from-empty-nose-syndrome
#16
David Mangin, Emilie Bequignon, Francoise Zerah-Lancner, Daniel Isabey, Bruno Louis, Serge Adnot, Jean-François Papon, André Coste, Laurent Boyer, Marie Devars du Mayne
OBJECTIVES/HYPOTHESIS: Patients with empty nose syndrome (ENS) following turbinate surgery often complain about breathing difficulties. We set out to determine if dyspnea in patients with ENS was associated with hyperventilation syndrome (HVS). We hypothesized that lower airway symptoms in ENS could be explained by HVS. STUDY DESIGN: Observational prospective study. METHODS: All consecutive patients referred to our center for ENS over 1 year were invited to participate...
April 13, 2017: Laryngoscope
https://www.readbyqxmd.com/read/28392333/outcome-of-hematopoietic-cell-transplantation-for-dna-double-strand-breakage-repair-disorders
#17
James Slack, Michael H Albert, Dmitry Balashov, Bernd H Belohradsky, Alice Bertaina, Jack Bleesing, Claire Booth, Jochen Büchner, Rebecca H Buckley, Marie Ouachée-Chardin, Elena Deripapa, Katarzyna Drabko, Mary Eapen, Tobias Feuchtinger, Andrea Finocchi, H Bobby Gaspar, Sujal Ghosh, Alfred Gillio, Luis I Gonzalez-Granado, Eyal Grunebaum, Tayfun Güngör, Carsten Heilmann, Merja Helminen, Kohei Higuchi, Kohsuke Imai, Krzysztof Kalwak, Nubuo Kanazawa, Gülsün Karasu, Zeynep Y Kucuk, Alexandra Laberko, Andrzej Lange, Nizar Mahlaoui, Roland Meisel, D Moshous, Hideki Muramatsu, Suhag Parikh, Srdjan Pasic, Irene Schmid, Catharina Schuetz, Ansgar Schulz, Kirk R Schultz, Peter J Shaw, Mary A Slatter, Karl-Walter Sykora, Shinobu Tamura, Mervi Taskinen, Angela Wawer, Beata Wolska-Kus Nierz, Morton J Cowan, Alain Fischer, Andrew R Gennery
BACKGROUND: Rare DNA breakage-repair disorders predispose to infection and lympho-reticular malignancies. Hematopoietic cell transplantation (HCT) is curative but co-administered chemo- or radio-therapy is damaging due to systemic radio-sensitivity. We collected HCT outcome data for Nijmegen Breakage syndrome (NBS), DNA ligase IV deficiency (LIG4), Cernunnos-XLF deficiency and ataxia-telangiectasia. METHODS: Data from 38 centres worldwide, including indication, donor, conditioning regimen, graft-versus-host disease (GvHD) and outcome were analyzed...
April 6, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28369484/nbs1-is-regulated-by-two-kind-of-mechanisms-atm-dependent-complex-formation-with-mre11-and-rad50-and-cell-cycle-dependent-degradation-of-protein
#18
Hui Zhou, Kasumi Kawamura, Hiromi Yanagihara, Junya Kobayashi, Qiu-Mei Zhang-Akiyama
Nijmegen breakage syndrome (NBS), a condition similar to Ataxia-Telangiectasia (A-T), is a radiation-hypersensitive genetic disorder showing chromosomal instability, radio-resistant DNA synthesis, immunodeficiency, and predisposition to malignances. The product of the responsible gene, NBS1, forms a complex with MRE11 and RAD50 (MRN complex). The MRN complex is necessary for the DNA damage-induced activation of ATM. However, the regulation of MRN complex formation is still unclear. Here, we investigated the regulatory mechanisms of MRN complex formation...
March 22, 2017: Journal of Radiation Research
https://www.readbyqxmd.com/read/28331838/bibliometric-analysis-of-literature-on-antifungal-triazole-resistance-1980-2015
#19
Waleed M Sweileh, Ansam F Sawalha, Samah Al-Jabi, Sa'ed H Zyoud
BACKGROUND: Triazole antifungal agents play an important role in the treatment of a wide range of fungal infections. Little is known about antifungal triazole drug resistance when compared to antibiotic resistance. Therefore, this study was carried out to give a bibliometric overview of literature on triazole antifungal drug resistance. METHODS: Keywords related to triazole drug class and resistance were used in a search query in the Scopus search engine. The time span was set from 1980 to 2015...
March 2017: Germs
https://www.readbyqxmd.com/read/28293782/baha-implant-as-a-hearing-solution-for-single-sided-deafness-after-retrosigmoid-approach-for-the-vestibular-schwannoma-surgical-results
#20
Jan Boucek, Jan Vokral, Libor Cerny, Martin Chovanec, Jiří Skrivan, Eduard Zverina, Jan Betka, Michal Zabrodsky
Skull base tumors and, in particular, vestibular schwannoma (VS) are among the etiological reasons for single-sided deafness (SSD). Patients with SSD have problems in understanding speech in a noisy environment and cannot localize the direction of sounds. Baha is one of the most frequently used systems for SSD compensation. Out of 38 patients with SSD after retrosigmoid removal of VS who underwent testing with Baha softband, 16 were satisfied and were indicated for Baha implantation. Two surgical approaches have been used-the Nijmegen linear incision technique with subdermal thinning (Group I, implant BI300) and fast surgery technique without subdermal thinning (Group II, implant BIA400)...
March 14, 2017: European Archives of Oto-rhino-laryngology
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