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https://www.readbyqxmd.com/read/28634279/in-frame-seven-amino-acid-duplication-in-aip-arose-over-the-last-3000-years-disrupts-protein-interaction-stability-and-is-associated-with-gigantism
#1
Roberto Salvatori, Serban Radian, Yoan Diekmann, Donato Iacovazzo, Alessia David, Plamena Grabovska, Giorgia Grassi, Anna-Marie Bussell, Karen Stals, Astrid Weber, Richard Quinton, Elizabeth Crowne, Valentina Corazzini, Louise A Metherell, Tara Kearney, Daniel Du Plessis, Ajay Sinha, Atik Baborie, Anne-LIse Locoq, Philippe Chanson, Olaf Ansorge, Sian Ellard, Peter J Trainer, David Balding, Mark Thomas, Marta 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 & 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...
June 20, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28633140/early-intrauterine-transfusion-in-fetuses-with-severe-anemia-caused-by-parvovirus-b19-infection
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
https://www.readbyqxmd.com/read/28530675/reevaluation-of-snp-heritability-in-complex-human-traits
#10
Doug Speed, Na Cai, Michael R Johnson, Sergey Nejentsev, David J Balding
SNP heritability, the proportion of phenotypic variance explained by SNPs, has been reported for many hundreds of traits. Its estimation requires strong prior assumptions about the distribution of heritability across the genome, but current assumptions have not been thoroughly tested. By analyzing imputed data for a large number of human traits, we empirically derive a model that more accurately describes how heritability varies with minor allele frequency (MAF), linkage disequilibrium (LD) and genotype certainty...
May 22, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28529085/variations-in-native-protein-glycation-and-plasma-antioxidants-in-several-birds-of-prey
#11
Tana Ingram, Jessica Zuck, Chad R Borges, Patrick Redig, Karen L Sweazea
Birds are an anomaly among vertebrates as they are remarkably long-lived despite having naturally high blood glucose and metabolic rates. For mammals, hyperglycemia leads to oxidative stress and protein glycation. In contrast, many studies have shown that domestic and wild birds are relatively resistant to these glucose-mediated pathologies. Surprisingly very little research has examined protein glycation in birds of prey, which by nature consume a diet high in protein and fat that promotes gluconeogenesis...
May 19, 2017: Comparative Biochemistry and Physiology. Part B, Biochemistry & Molecular Biology
https://www.readbyqxmd.com/read/28525718/stability-of-the-parent-anion-of-the-potential-radiosensitizer-8-bromoadenine-formed-by-low-energy-3-ev-electron-attachment
#12
Robin Schürmann, Katrin Tanzer, Iwona Dąbkowska, Stephan Denifl, Ilko Bald
8-Bromoadenine ((8Br)A) is a potential DNA radiosensitizer for cancer radiation therapy due to its efficient interaction with low-energy electrons (LEEs). LEEs are a short-living species generated during the radiation damage of DNA by high-energy radiation as it is applied in cancer radiation therapy. Electron attachment to (8Br)A in the gas phase results in a stable parent anion below 3 eV electron energy in addition to fragmentation products formed by resonant exocyclic bond cleavages. Density functional theory (DFT) calculations of the (8Br)A(-) anion reveal an exotic bond between the bromine and the C8 atom with a bond length of 2...
June 15, 2017: Journal of Physical Chemistry. B
https://www.readbyqxmd.com/read/28500509/observations-of-termitarium-geophagy-by-rylands-bald-faced-saki-monkeys-pithecia-rylandsi-in-madre-de-dios-peru
#13
Dara B Adams, Jennifer A Rehg, Mrinalini Watsa
Geophagy, or soil consumption, has been documented in diverse animal taxa, including many primates. Physiological functions such as mineral supplementation, detoxification of secondary compounds, and antacid properties are possible causes for this behavior. We report on observations of geophagy at arboreal termitaria by free-ranging Pithecia rylandsi at La Estación Biológica Los Amigos (EBLA) in Perú between 2008 and 2015. Characteristics of geophagy events, including saki monkey behavior at the termitaria, were recorded and geochemical analyses were conducted on consumed termitaria, nearby topsoils, and unvisited termitaria...
July 2017: Primates; Journal of Primatology
https://www.readbyqxmd.com/read/28500043/potential-for-water-borne-and-invertebrate-transmission-of-west-nile-virus-in-the-great-salt-lake-utah
#14
Melissa Lund, Valerie Shearn-Bochsler, Robert J Dusek, Jan Shivers, Erik Hofmeister
In November and December of 2013, a large mortality event involving 15,000 - 20,000 eared grebes (Podiceps nigricollis) occurred at the Great Salt Lake (GSL), UT. The onset of the outbreak in grebes was followed by a mortality event in > 86 bald eagles (Haliaeetus leucocephalus). During the die-off, West Nile virus (WNV) was detected by RT-PCR or viral culture in carcasses of grebes and eagles submitted to the National Wildlife Health Center. However, no mosquito activity, the primary vector of WNV, was detected by the State of Utah's WNV monitoring program...
May 12, 2017: Applied and Environmental Microbiology
https://www.readbyqxmd.com/read/28484599/to-migrate-stay-put-or-wander-varied-movement-strategies-in-bald-eagles-haliaeetus-leucocephalus
#15
Rachel E Wheat, Stephen B Lewis, Yiwei Wang, Taal Levi, Christopher C Wilmers
BACKGROUND: Quantifying individual variability in movement behavior is critical to understanding population-level patterns in animals. Here, we explore intraspecific variation in movement strategies of bald eagles (Haliaeetus leucocephalus) in the north Pacific, where there is high spatiotemporal resource variability. We tracked 28 bald eagles (five immature, 23 adult) using GPS transmitters between May 2010 and January 2016. RESULTS: We found evidence of four movement strategies among bald eagles in southeastern Alaska and western Canada: breeding individuals that were largely sedentary and remained near nest sites year-round, non-breeding migratory individuals that made regular seasonal travel between northern summer and southern winter ranges, non-breeding localized individuals that displayed fidelity to foraging sites, and non-breeding nomadic individuals with irregular movement...
2017: Movement Ecology
https://www.readbyqxmd.com/read/28476314/the-edinburgh-modification-of-the-minimal-access-zygomatic-osteotomy-used-for-the-correction-of-zygomatic-orbital-hypoplasia
#16
J N Philip, D F Campbell
Zygomatic hypoplasia can be an exceedingly difficult proposition for the surgeon treating facial deformity. The classical approach would be a coronal access, which is time-consuming, leaves a long scar on the scalp that shows in patients with balding patterns, and carries the risk of permanent facial weakness. The Edinburgh technique presents a minimal access approach to the zygomatic osteotomy. This is performed through local incisions and a bone cut made using hand-held diamond-coated wire that mobilizes the entire zygoma...
May 2, 2017: International Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28474633/echocardiographic-abnormalities-in-cirrhosis-their-correlation-with-severity-of-cirrhosis-using-child-pugh-score-among-patients-in-a-tertiary-care-hospital
#17
Jagruti Balde, N Karthik Rao, Kirthinath Ballala, Jyothi Samanth, K Ranjan Shetty, Navin Patil, A Avinash, George Varghese
BACKGROUND & OBJECTIVES: Child-Pugh score (CPS) is a widely used prognostic marker in cases of cirrhosis and pulmonary arterial hypertension (PAH). However, the role of this score in the quantification of severity of PAH is not well studied. In mild cases, echocardiography is more sensitive. This study was done to assess the association between echocardiography and severity of cirrhosis using CPS. METHODS: A cross-sectional study was done from April to June 2014 in 42 patients with cirrhosis using a pre-tested semi-structured interview schedule...
December 2016: Indian Journal of Medical Research
https://www.readbyqxmd.com/read/28471956/reduced-maternal-calcium-intake-through-nutrition-and-supplementation-is-associated-with-adverse-conditions-for-both-the-women-and-their-infants-in-a-chinese-population
#18
Xiaohong Liu, Xinjia Wang, Yue Tian, Zhixin Yang, Li Lin, Qing Lin, Zhonghao Zhang, Li Li
Effective nutritional guidelines for pregnant women in China are lacking. The aim of this study was to investigate the effect of dietary nutrition on the health condition of pregnant women and infants in China.In total, 331 pregnant women who had prenatal examinations were included in this study. Data, including dietary nutrition questionnaires, the weight, height, age, and health condition of the pregnant women as well as the health condition of the infants, were recorded.The average intake of milk, poultry and meat, fish and prawns, eggs, and bean products were 297...
May 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28471070/performing-a-preliminary-hazard-analysis-applied-to-administration-of-injectable-drugs-to-infants
#19
Nadia Hfaiedh, Sofiane Kabiche, Catherine Delescluse, Issa-Bella Balde, Sophie Merlin, Sandra Carret, Loïc de Pontual, Jean-Eudes Fontan, Joël Schlatter
RATIONALE, AIMS AND OBJECTIVES: Errors in hospitals during the preparation and administration of intravenous drugs to infants and children have been reported to a rate of 13% to 84%. This study aimed to investigate the potential for hazardous events that may lead to an accident for preparation and administration of drug injection in a pediatric department and to describe a reduction plan of risks. METHODS: The preliminary hazard analysis (PHA) method was implemented by a multidisciplinary working group over a period of 5 months (April-August 2014) in infants aged from 28 days to 2 years...
May 4, 2017: Journal of Evaluation in Clinical Practice
https://www.readbyqxmd.com/read/28423200/cd80cd86-deficiency-disrupts-regulatory-cd4-foxp3-t-cell-homeostasis-and-induces-autoimmune-like-alopecia
#20
Ji-Hyun Bae, Woo-Sung Hwang, Yoo-Jin Jang, Yoon-Hoo Lee, Da-Eun Jang, Jung-Sik Kim, Su-Cheong Yeom
Alopecia areata (AA) is an autoimmune disease that results in spot baldness in humans. Adequate animal models for AA are currently lacking. The objective of this study was to elucidate the mechanism of autoimmune-like alopecia (ALA) in C57BL/6.CD80CD86-deficient (B6.CD80CD86(-/-) ) mice. Incidence and severity of alopecia were analyzed in 58 B6.CD80CD86(-/-) mice by using histological examination, flow cytometry, multiplex enzyme-linked immunosorbent assay, quantitative RT-PCR, and CD25 inhibition test. Both male and female B6...
April 19, 2017: Experimental Dermatology
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