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https://www.readbyqxmd.com/read/28741586/a-new-mutation-in-the-calcium-sensing-receptor-gene-causing-hypocalcaemia-case-report-of-a-father-and-two-sons
#1
M K Schoutteten, B Bravenboer, S Seneca, K Stouffs, B Velkeniers
BACKGROUND: Regulation of calcium is mediated by parathyroid hormone (PTH) and 1.25-dihydroxyvitamine D3. The calcium-sensing receptor (CaSR) regulates PTH release by a negative feedback system. Gain-of-function mutations in the CaSR gene reset the calcium-PTH axis, leading to hypocalcaemia. PATIENTS AND METHODS: We analysed a family with hypocalcaemia. The proband was a 47-year-old man (index, patient I1), who presented with paraesthesias in both limbs. He has two sons (patient II1 a nd I I2)...
July 2017: Netherlands Journal of Medicine
https://www.readbyqxmd.com/read/28740409/hair-follicle-growth-by-stromal-vascular-fraction-enhanced-adipose-transplantation-in-baldness
#2
David Perez-Meza, Craig Ziering, Marcos Sforza, Ganesh Krishnan, Edward Ball, Eric Daniels
Great interest remains in finding new and emerging therapies for the treatment of male and female pattern hair loss. The autologous fat grafting technique is >100 years old, with a recent and dramatic increase in clinical experience over the past 10-15 years. Recently, in 2001, Zuk et al published the presence of adipose-derived stem cells, and abundant research has shown that adipose is a complex, biological active, and important tissue. Festa et al, in 2011, reported that adipocyte lineage cells support the stem cell niche and help drive the complex hair growth cycle...
2017: Stem Cells and Cloning: Advances and Applications
https://www.readbyqxmd.com/read/28739772/efficacy-and-safety-of-nab-paclitaxel-as-second-line-chemotherapy-for-locally-advanced-and-metastatic-non-small-cell-lung-cancer
#3
Wenjing Wong, Ping Sun, Zhengbin Mu, Jiannan Liu, Caiyan Yu, Aina Liu
AIM: To investigate the efficacy and safety of nanoparticle albumin-bound paclitaxel (nab-paclitaxel) for locally advanced or metastatic non-small cell lung cancer (NSCLC) as second-line chemotherapy. PATIENTS AND METHODS: We retrospectively reviewed the treatment of 34 patients with advanced NSCLC whose first-line treatment had failed. These patients received nab-paclitaxel 260 mg/m(2) on day 1 and day 8 of a 21-day cycle from July 2014 to February 2016. One cycle of treatment lasted 3 weeks and all patients completed more than two cycles...
August 2017: Anticancer Research
https://www.readbyqxmd.com/read/28695775/a-qualitative-study-on-the-implementation-of-quality-systems-in-australian-hospitals
#4
Sandra G Leggat, Cathy Balding
Public hospitals are required to have quality systems in place to meet accreditation standards, achieve government performance expectations and continually improve care. However, previous study suggests that there has been limited success in the implementation of effective quality systems. Using document review, self-evaluation and qualitative data from interviews and focus groups of 270 board members, managers and staff we explored the implementation of quality systems in eight Australian public hospitals...
January 1, 2017: Health Services Management Research
https://www.readbyqxmd.com/read/28693608/temporal-analysis-of-igg-antibody-responses-to-plasmodium-falciparum-antigens-in-relation-to-changing-malaria-epidemiology-in-a-west-african-setting
#5
Makhtar Niang, Oumy Niass, Nafissatou Diagne, Fatoumata Diene Sarr, Michel Matar Faye, Fode Diop, Babacar Diouf, Joseph Faye, Abdoulaye Badiane, Ronald Perraut, Cheikh Sokhna, Jean-François Trape, Adama Tall, Aissatou Toure-Balde
BACKGROUND: Coordinated scaled-up malaria control interventions have substantially contributed to the dramatic decrease of malaria-related morbidity and mortality in several endemic countries, including Senegal. However, the impacts of a given malaria control intervention on vector and parasite populations, acquired immunity, and disease burden remain very poorly documented largely due to the lack of continuous surveys. This study took advantage of the sera bank established as part of the Dielmo longitudinal project to investigate the dynamics of IgG antibody responses that accompanied the epidemiological changes resulting from malaria control interventions...
July 11, 2017: Malaria Journal
https://www.readbyqxmd.com/read/28673913/relation-between-travel-strategy-and-social-organization-of-migrating-birds-with-special-consideration-of-formation-flight-in-the-northern-bald-ibis
#6
B Voelkl, J Fritz
A considerable proportion of the world's bird species undertake seasonal long-distance migrations. These journeys are energetically demanding. Two major behavioural means to reduce energy expenditure have been suggested: the use of thermal uplifts for a soaring-gliding migration style and travelling in echelon or V-shaped formation. Both strategies have immediate consequences for the social organization of the birds as they either cause large aggregations or require travelling in small and stable groups. Here, we first discuss those consequences, and second present an analysis of formation flight in a flock of northern bald ibis on their first southbound migration...
August 19, 2017: Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences
https://www.readbyqxmd.com/read/28670830/resonant-formation-of-strand-breaks-in-sensitized-oligonucleotides-induced-by-low-energy-electrons-0-5-9-0-ev
#7
Ilko Bald, Robin Schürmann, Thupten Tsering, Tanzer Katrin, Stephan Denifl, S V K Kumar
Halogenated nucleobases act as radiosensitizers in cancer radiation therapy, enhancing the reactivity of DNA to secondary low-energy electrons (LEEs). LEEs induce DNA strand breaks at specific energies (resonances) via dissociative electron attachment (DEA). Although halogenated nucleobases show intense DEA resonances at various electron energies in the gas phase, it is inherently difficult to investigate the influence of halogenated nucleobases on the actual DNA strand breakage over a broad range of electron energies in which DEA can take place (< 12 eV)...
July 3, 2017: Angewandte Chemie
https://www.readbyqxmd.com/read/28665950/mortality-among-pcr-negative-admitted-ebola-suspects-during-the-2014-15-outbreak-in-conakry-guinea-a-retrospective-cohort-study
#8
Brecht Ingelbeen, Elhadj Ibrahima Bah, Tom Decroo, Idrissa Balde, Helena Nordenstedt, Johan van Griensven, Anja De Weggheleire
Non-cases are suspect Ebola Virus Disease (EVD) cases testing negative by EVD RT-PCR after admission to an Ebola Treatment Centre (ETC). Admitting non-cases to an ETC prompts concerns on case- and workload in the ETC, risk for nosocomial EVD infection, and delays in diagnosis and disease-specific treatment. We retrospectively analysed characteristics, outcomes and determinants of death of EVD cases and non-cases admitted to the Conakry ETC in Guinea between 03/2014 and 09/2015. Of the 2362 admitted suspects who underwent full confirmatory PCR testing, 1540 (65...
2017: PloS One
https://www.readbyqxmd.com/read/28652246/mapk-signaling-and-inflammation-link-melanoma-phenotype-switching-to-induction-of-cd73-during-immunotherapy
#9
Julia Reinhardt, Jennifer Landsberg, Jonathan L Schmid-Burgk, Bartomeu Bibiloni Ramis, Tobias Bald, Nicole Glodde, Dorys Lopez-Ramos, Arabella Young, Shin Foong Ngiow, Daniel Nettersheim, Hubert Schorle, Thomas Quast, Waldemar Kolanus, Dirk Schadendorf, Georgina V Long, Jason Madore, Richard A Scolyer, Antoni Ribas, Mark J Smyth, Paul C Tumeh, Thomas Tuting, Michael Hölzel
Evolution of tumor cell phenotypes promotes heterogeneity and therapy resistance. Here we found that induction of CD73, the enzyme that generates immunosuppressive adenosine, is linked to melanoma phenotype switching. Activating MAPK mutations and growth factors drove CD73 expression, which marked both nascent and full activation of a mesenchymal-like melanoma cell state program. Proinflammatory cytokines like TNF-alpha cooperated with MAPK signaling through the c-Jun/AP-1 transcription factor complex to activate CD73 transcription by binding to an intronic enhancer...
June 26, 2017: Cancer Research
https://www.readbyqxmd.com/read/28652244/targeting-adenosine-in-braf-mutant-melanoma-reduces-tumor-growth-and-metastasis
#10
Arabella Young, Shin Foong Ngiow, Jason Madore, Julia Reinhardt, Jennifer Landsberg, Arash Chitsazan, Jai Rautela, Tobias Bald, Deborah Barkauskas, Elizabeth Ahern, Nicholas Huntington, Dirk Schadendorf, Georgina V Long, Glen M Boyle, Michael Hölzel, Richard A Scolyer, Mark J Smyth
Increasing evidence exists for the role of immunosuppressive adenosine in promoting tumor growth and spread in a number of cancer types, resulting in poor clinical outcomes. In this study, we assessed whether the CD73-adenosinergic pathway is active in melanoma patients and whether adenosine restricts the efficacy of clinically approved targeted therapies for commonly mutated BRAF(V600E) melanoma. In AJCC Stage III melanoma patients, CD73 expression (the enzyme that generates adenosine) correlated significantly with patients presenting nodal metastatic melanoma, suggesting that targeting this pathway may be effective in advanced stage disease...
June 26, 2017: Cancer Research
https://www.readbyqxmd.com/read/28641892/fighting-fake-medicines-first-quality-evaluation-of-cardiac-drugs-in-africa
#11
Marie Antignac, Bara Ibrahima Diop, Diane Macquart de Terline, Melisande Bernard, Bernard Do, Stéphane Méo Ikama, Roland N'Guetta, Dadhi M Balde, Yessoufou Tchabi, Abdallahi Sidi Aly, Ibrahim Ali Toure, Patrick Zabsonre, Jean Marie F Damorou, Jean Laurent Takombe, Christine Fernandez, Muriel Tafflet, Jean Philippe Empana, Pierre François Plouin, Kumar Narayanan, Eloi Marijon, Xavier Jouven
BACKGROUND: The growing menace of poor quality and falsified drugs constitutes a major hazard, compromising healthcare and patient outcomes. Efforts to assess drug standards worldwide have almost exclusively focused on anti-microbial drugs; with no study to date on cardiovascular drugs. Our study aims to assess quality of seven routinely used cardiovascular medications (anticoagulants, antihypertensives and statins) in ten Sub-Saharan African countries. METHODS: Drugs were prospectively collected using standardized methods between 2012 and 2014 from licensed (random pharmacies) and unlicensed (street-markets) places of sale in Africa...
September 15, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28634279/in-frame-seven-amino-acid-duplication-in-aip-arose-over-the-last-3000-years-disrupts-protein-interaction-and-stability-and-is-associated-with-gigantism
#12
Roberto Salvatori, Serban Radian, Yoan Diekmann, Donato Iacovazzo, Alessia David, Plamena Gabrovska, Giorgia Grassi, Anna-Marie Bussell, Karen Stals, Astrid Weber, Richard Quinton, Elizabeth C Crowne, Valentina Corazzini, Lou Metherell, Tara Kearney, Daniel Du Plessis, Ajay Kumar Sinha, Atik Baborie, Anne-Lise Lecoq, Philippe Chanson, Olaf Ansorge, Sian Ellard, Peter J Trainer, David Balding, Mark G Thomas, Márta Korbonits
OBJECTIVE: Mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene are associated with pituitary adenoma, acromegaly and gigantism. Identical alleles in unrelated pedigrees could be inherited from a common ancestor or result from recurrent mutation events. DESIGN AND METHODS: Observational, inferential and experimental study, including: AIP mutation testing; reconstruction of 14 AIP-region (8.3 Mbp) haplotypes; coalescent-based approximate Bayesian estimation of the time to most recent common ancestor (tMRCA) of the derived allele; forward population simulations to estimate current number of allele carriers; proposal of mutation mechanism; protein structure predictions; co-immunoprecipitation and cycloheximide chase experiments...
September 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28633140/early-intrauterine-transfusion-in-fetuses-with-severe-anemia-caused-by-parvovirus-b19-infection
#13
Astrid Hellmund, Annegret Geipel, Christoph Berg, Rainer Bald, Ulrich Gembruch
OBJECTIVE: To describe procedure-related complications and perinatal survival after intrauterine transfusion (IUT) before 20 weeks of gestation in fetuses with severe anemia due to human parvovirus B19 infection. MATERIALS AND METHODS: A retrospective study was conducted of all fetuses requiring IUT before 20 weeks of gestation in two tertiary referral centers between January 2002 and July 2015. Gestational age (GA) at first IUT, fetal blood sampling results, and presence of hydrops were related to procedure-related complications, fetal death (FD), and perinatal outcome...
June 21, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28628679/safety-and-efficacy-of-escalating-doses-of-ingenol-mebutate-for-field-treatment-of-actinic-keratosis-on-the-full-face-full-balding-scalp-or-chest
#14
C William Hanke, Brian Berman, Neil Swanson, David M Pariser, Jonathan S Weiss, Michael Bukhalo, Torsten Skov, John Villumsen, Daniel Siegel
<p>Background: Actinic keratosis (AK) can affect large skin areas. Ingenol mebutate (IngMeb) gel (0.015% and 0.05%) is approved for topical treatment of AK in a single contiguous area of ~25 cm2.</p> <p>Objective: The study sought to determine the maximum tolerated dose (MTD), efficacy, and tolerability of IngMeb applied to AK on a contiguous area less than equal to 250 cm2.</p> <p>Methods: Part 1 determined the MTD of IngMeb at 7 concentrations for 2 or 3 days. Part 2 assessed efficacy and tolerability at the MTD and one dose lower for 2 or 3 days vs vehicle...
May 1, 2017: Journal of Drugs in Dermatology: JDD
https://www.readbyqxmd.com/read/28602049/baldness-and-scalp-melanoma
#15
E Benati, C Longo, C Bombonato, E Moscarella, R Alfano, G Argenziano
Nearly 20% of melanomas occur on the head and neck area(1) but only 2-5% arise on the scalp.(2) Several studies reported a worse prognosis of scalp melanoma compared to other body sites, being unclear the reason for this phenomenon.(3) Melanoma and non-melanoma skin cancer of the scalp are most frequent in bald men older than 65 years. This article is protected by copyright. All rights reserved.
June 11, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28599432/efficacy-and-tolerability-of-nanoparticle-albumin-bound-paclitaxel-in-combination-with-carboplatin-as-a-late-phase-chemotherapy-for-recurrent-and-advanced-non-small-cell-lung-cancer-a-multi-center-study-of-the-fukushima-lung-cancer-association-group-of-surgeons
#16
Mitsunori Higuchi, Hironori Takagi, Yuki Owada, Takuya Inoue, Yuzuru Watanabe, Takumi Yamaura, Mitsuro Fukuhara, Satoshi Muto, Naoyuki Okabe, Yuki Matsumura, Takeo Hasegawa, Atsushi Yonechi, Jun Osugi, Mika Hoshino, Yutaka Shio, Koichi Fujiu, Ryuzo Kanno, Akio Ohishi, Hiroyuki Suzuki, Mitsukazu Gotoh
The present retrospective multi-center study aimed to evaluate the efficacy and feasibility of nanoparticle albumin-bound (nab)-paclitaxel plus carboplatin as a second or late-phase chemotherapy in patients with non-small cell lung cancer (NSCLC). A total of 25 patients with recurrent or advanced NSCLC who had received previous chemotherapy were treated with nab-paclitaxel (70-100 mg/m(2), intravenously) on days 1, 8 and 15 every 28 days with a carboplatin area under the concentration-time curve of 4-6 on day 1...
June 2017: Oncology Letters
https://www.readbyqxmd.com/read/28596234/cathepsin-b-as-a-potential-cystatin-m-e-target-in-the-mouse-hair-follicle
#17
Merel A W Oortveld, Ivonne M J J van Vlijmen-Willems, Ferry F J Kersten, Tsing Cheng, Martijn Verdoes, Piet E J van Erp, Sjef Verbeek, Thomas Reinheckel, Wiljan J A J Hendriks, Joost Schalkwijk, Patrick L J M Zeeuwen
Deficiency of the cysteine protease inhibitor cystatin M/E (Cst6) in mice leads to disturbed epidermal cornification, impaired barrier function, and neonatal lethality. We report the rescue of the lethal skin phenotype of ichq (Cst6-deficient; Cst6(-/-)) mice by transgenic, epidermis-specific, reexpression of Cst6 under control of the human involucrin (INV) promoter. Rescued Tg(INV-Cst6)Cst6(ichq/ichq) mice survive the neonatal phase, but display severe eye pathology and alopecia after 4 mo. We observed keratitis and squamous metaplasia of the corneal epithelium, comparable to Cst6(-/-)Ctsl(+/-) mice, as we have reported in other studies...
June 8, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/28595998/targeting-of-cxxc5-by-a-competing-peptide-stimulates-hair-re-growth-and-wound-induced-hair-neogenesis
#18
Soung-Hoon Lee, Seol Hwa Seo, Dong-Hwan Lee, Long-Quan Pi, Won-Soo Lee, Kang-Yell Choi
The Wnt/β-catenin pathway has been implicated in hair follicle development and hair regeneration in adults. We discovered that CXXC-type zinc finger protein 5 (CXXC5) is a negative regulator of the Wnt/β-catenin pathway involved in hair re-growth and wound-induced hair follicle neogenesis (WIHN) via an interaction with Dishevelled (Dvl). CXXC5 was up-regulated in miniaturized hair follicles and arrector pili muscles in human balding scalps. The inhibitory effects of CXXC5 on alkaline phosphatase activity and cell proliferation were demonstrated using human hair follicle dermal papilla cells...
June 5, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28584752/body-to-scalp-evolving-trends-in-body-hair-transplantation
#19
REVIEW
Kuldeep Saxena, Sandeep S Savant
Follicular unit extraction (FUE) is becoming an increasingly popular method for hair restoration. As FUE leaves behind no linear scars, it is more suitable to harvest from various body areas including beard, chest, and extremities in hirsute individuals. Body hair characteristics such as thickness, length, and hair cycle may not completely match to that of the scalp hair. The techniques of harvesting body hairs are more time consuming, requiring higher degree of skill than regular scalp FUE. Body hair transplantation can be successfully used either alone or in combination with scalp hair in advanced grades of baldness, for improving the cosmetic appearance of hairlines and in scarring alopecia when there is paucity of donor scalp hair...
May 2017: Indian Dermatology Online Journal
https://www.readbyqxmd.com/read/28579621/fetal-pathology-of-neural-tube-defects-an-overview-of-68-cases
#20
Katharina Schoner, Roland Axt-Fliedner, Rainer Bald, Barbara Fritz, Juergen Kohlhase, Thomas Kohl, Helga Rehder
INTRODUCTION: The prevalence of neural tube defects worldwide is 1 - 2 per 1000 neonates. Neural tube defects result from a disturbance of neurulation in the 3rd or 4th week of development and thus represent the earliest manifestation of organ malformation. Neural tube defects (NTD) are classified into cranial dysraphism leading to anencephaly or meningoencephalocele and spinal dysraphism with or without meningomyelocele. In isolated form they have multifactorial causes, and the empirical risk of recurrence in Central Europe is 2%...
May 2017: Geburtshilfe und Frauenheilkunde
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