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https://www.readbyqxmd.com/read/29198720/mutations-in-tubb4b-cause-a-distinctive-sensorineural-disease
#1
Romain Luscan, Sabrina Mechaussier, Antoine Paul, Guoling Tian, Xavier Gérard, Sabine Defoort-Dellhemmes, Natalie Loundon, Isabelle Audo, Sophie Bonnin, Jean-François LeGargasson, Julien Dumont, Nicolas Goudin, Meriem Garfa-Traoré, Marc Bras, Aurore Pouliet, Bettina Bessières, Nathalie Boddaert, José-Alain Sahel, Stanislas Lyonnet, Josseline Kaplan, Nicholas J Cowan, Jean-Michel Rozet, Sandrine Marlin, Isabelle Perrault
Leber congenital amaurosis (LCA) is a neurodegenerative disease of photoreceptor cells that causes blindness within the first year of life. It occasionally occurs in syndromic metabolic diseases and plurisystemic ciliopathies. Using exome sequencing in a multiplex family and three simplex case subjects with an atypical association of LCA with early-onset hearing loss, we identified two heterozygous mutations affecting Arg391 in β-tubulin 4B isotype-encoding (TUBB4B). Inspection of the atomic structure of the microtubule (MT) protofilament reveals that the β-tubulin Arg391 residue contributes to a binding pocket that interacts with α-tubulin contained in the longitudinally adjacent αβ-heterodimer, consistent with a role in maintaining MT stability...
November 22, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29195813/clinical-pathologic-conference-diffuse-papillomatous-lesions-of-the-gingiva-with-posterolateral-neck-skin-tags
#2
Susie I Lin, Joseph R Mort, Paul M Hinchey, James S Lewis, Jeffrey Zwerner
No abstract text is available yet for this article.
November 6, 2017: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
https://www.readbyqxmd.com/read/29178669/identification-of-polystyrene-nanoparticle-penetration-across-intact-skin-barrier-as-rare-event-at-sites-of-focal-particle-aggregations
#3
Nadine Döge, Sabrina Hadam, Pierre Volz, Alexander Wolf, Karl-Heinz Schönborn, Ulrike Blume-Peytavi, Ulrike Alexiev, Annika Vogt
The question whether nanoparticles can cross the skin barrier is highly debated. Even in intact skin rare events of deeper penetration have been reported, but technical limitations and possible artefacts require careful interpretation. In this study, horizontal scanning by two-photon microscopy (2 PM) of full-thickness human skin samples placed in a lateral position yielded highly informative images for skin penetration studies of fluorescently tagged nanoparticles. Scanning of large fields of view allowed for detailed information on interfollicular and follicular penetration in tissue blocks without damaging the sample...
November 27, 2017: Journal of Biophotonics
https://www.readbyqxmd.com/read/29152236/low-levels-of-very-long-chain-n-3-pufa-in-atlantic-salmon-salmo-salar-diet-reduce-fish-robustness-under-challenging-conditions-in-sea-cages
#4
Marta Bou, Gerd M Berge, Grete Baeverfjord, Trygve Sigholt, Tone-Kari Østbye, Bente Ruyter
The present study aimed to determine the minimum requirements of the essential n-3 fatty acids EPA and DHA in Atlantic salmon (Salmo salar) that can secure their health under challenging conditions in sea cages. Individually tagged Atlantic salmon were fed 2, 10 and 17 g/kg of EPA + DHA from 400 g until slaughter size (about 3·5 kg). The experimental fish reared in sea cages were subjected to the challenging conditions typically experienced under commercial production. Salmon receiving the lowest EPA + DHA levels showed lower growth rates in the earlier life stages, but no significant difference in final weights at slaughter...
2017: Journal of Nutritional Science
https://www.readbyqxmd.com/read/29133662/a-tiny-tick-can-cause-a-big-health-problem
#5
Manuel John, M Raman, Keith Ryan
Ticks are tiny crawling bugs in the spider family that feed by sucking blood from animals. They are second only to mosquitoes as vectors of human disease, both infectious and toxic. Infected ticks spread over a hundred diseases, some of which are fatal if undetected. They spread the spirochete (which multiplies in the insect's gut) with a subsequent bite to the next host. We describe the only reported cases of peri ocular tick bite from India that presented to us within a span of 3 days and its management. Due suspicion and magnification of the lesions revealed the ticks which otherwise masqueraded as small skin tags/moles on gross examination...
November 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/29094481/cxcl-10-and-interleukin-6-are-reliable-serum-markers-for-vitiligo-activity-a-multicenter-cross-sectional-study
#6
Marwa Abdallah, Medhat El-Mofty, Tag Anbar, Hoda Rasheed, Samia Esmat, Amira Al-Tawdy, Marwa M Fawzy, Dalia Abdel-Halim, Rehab Hegazy, Heba Gawdat, Dalia Bassiouny, Mona A Ibrahim, Iman Sany, Mahy El-Bassiouny, Mohamed Khalil, Abeer Abdel-Aziz, Zeinab M El Maadawi, Wedad Z Mostafa
This cross-sectional multicenter study aimed to evaluate serum CXCL-10, as an activity marker for vitiligo and compare it with other putative serum and tissue markers. Serum CXCL-10 was compared to interferon gamma (IFN-γ), interleukin 6 (IL-6) and IL-17 using ELISA in 55 non-segmental vitiligo patients (30 active and 25 stable) and 30 healthy controls. Marginal skin biopsy was taken for immunohistochemical evaluation of CD8+T-cells and CXCL-10 +ve cells. Serum levels of CXCL-10, IL-17 and IL-6 were elevated in all vitiligo patients compared to controls (P<0...
November 1, 2017: Pigment Cell & Melanoma Research
https://www.readbyqxmd.com/read/29060797/nfc-enabled-tattoo-like-stretchable-biosensor-manufactured-by-cut-and-paste-method
#7
Hyoyoung Jeong, Taewoo Ha, Irene Kuang, Linxiao Shen, Zhaohe Dai, Nan Sun, Nanshu Lu
The wearables industry is lacking in devices that have the ability to provide valuable biometrics data in a soft, wireless and disposable system. Such a system should be high performance, multifunctional, but battery-free and low cost. Near field communication (NFC) is a wireless communication protocol built in many smartphones nowadays that can read data from battery-free passive tags. As a result, NFC-enabled wearable biosensors have been reported, but they are either unstretchable or have to be manufactured by labor- and time-intensive photolithography and transfer-printing processes...
July 2017: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/29051401/symptomatic-pile-tailored-procedure-a-new-perspective-for-hemorrhoidal-disease-treatment
#8
Claudio Elbetti, Iacopo Giani, Eugenio Novelli, Jacopo Martellucci, Francesco Feroci
AIM: Aim of the present paper was to evaluate the role of tailored different single pile treatment in the clinical outcome of hemorrhoids. MATERIAL OF STUDY: The surgical strategy considered to treat only pathological piles with different procedure according to each pathological Goligher's degree, presence of fibrous, inelastic redundant internal pile(F) and presence of external pathological pile (external pile congestion or subversion of dental line (E) and skin tag not tolerated from the patient (S))...
2017: Annali Italiani di Chirurgia
https://www.readbyqxmd.com/read/29030443/a-novel-metabolic-pathway-for-n-methylpyrrolidone-degradation-in-alicycliphilus-sp-bq1
#9
Claudia Julieta Solís-González, Lilianha Domínguez-Malfavón, Martín Vargas-Suárez, Itzel Gaytán, Miguel Ángel Cevallos, Luis Lozano, M Javier Cruz-Gómez, Herminia Loza-Tavera
The molecular mechanisms underlying the biodegradation of N-Methylpyrrolidone (NMP), a widely used industrial solvent that produces skin irritation in humans, and is teratogenic in rats, are unknown. Alicycliphilus sp. BQ1 degrades NMP. By studying a transposon-tagged mutant unable to degrade NMP, we identified a six-gene cluster (nmpABCDEF), transcribed as a polycistronic mRNA, encoding enzymes involved in NMP biodegradation. nmpA and the transposon-affected gene nmpB encode a N-methylhydantoin amidohydrolase that would transform NMP to γ-N-methylaminobutyric acid; this would be metabolized by an aminoacid oxidase (NMPC), either by demethylation to produce γ-aminobutyric acid (GABA), or by deamination to produce succinate semialdehyde (SSA)...
October 13, 2017: Applied and Environmental Microbiology
https://www.readbyqxmd.com/read/28985332/trade-offs-influencing-the-physiological-ecology-of-hibernation-in-temperate-zone-bats
#10
Craig K R Willis
Seasonality of temperature and food availability can lead to trade-offs between the benefits of immediate reproduction and costs associated with mortality risk from starvation, inclement weather, or predation. Hibernating mammals exhibit an enormous seasonal shift in physiology and behavior and provide a useful system to examine the effect of this trade-off on key events in the annual cycle. Most of what we understand about the ecological energetics and phenology of hibernation comes from studies of rodent hibernators such as ground squirrels, chipmunks, and dormice...
July 26, 2017: Integrative and Comparative Biology
https://www.readbyqxmd.com/read/28985028/pitfalls-in-using-fluorescence-tagging-of-nanomaterials-tecto-dendrimers-in-skin-tissue-as-investigated-by-cluster-flim
#11
Pierre Volz, Priscila Schilrreff, Robert Brodwolf, Christopher Wolff, Johannes Stellmacher, Jens Balke, Maria J Morilla, Christian Zoschke, Monika Schäfer-Korting, Ulrike Alexiev
Targeted topical application promises high drug concentrations in the skin and low systemic adverse effects. To locate drugs and drug-delivery systems like nanocarriers, fluorescent dyes are commonly used as drug surrogates or nanocarrier labels in micrographs of tissue sections. Here, we investigate how labeling degree, concentration of fluorophore, and nanocarrier may affect the interpretation of these micrographs. False-negative penetration results due to inter- and intramolecular quenching effects are likely...
October 2017: Annals of the New York Academy of Sciences
https://www.readbyqxmd.com/read/28982114/do-weaner-pigs-need-in-feed-antibiotics-to-ensure-good-health-and-welfare
#12
Alessia Diana, Edgar G Manzanilla, Julia A Calderón Díaz, Finola C Leonard, Laura A Boyle
Antibiotics (AB) are used in intensive pig production systems to control infectious diseases and they are suspected to be a major source of antibiotic resistance. Following the ban on AB use as growth promoters in the EU, their prophylactic use in-feed is now under review. The aim of this study was to evaluate the effect of removing prophylactic in-feed AB on pig health and welfare indicators. Every Monday for six weeks, a subset of 70 pigs were weaned, tagged and sorted into two groups of 35 pigs according to weight (9...
2017: PloS One
https://www.readbyqxmd.com/read/28979327/fabrication-and-physicochemical-investigation-of-ancient-iranian-and-pakistani-treated-silver-particles-and-their-comparison-with-silver-nanoparticles
#13
Soheyla Honary, Alireza Mozaffari Dehshiri, Mahmoud Mosaddegh
Silver compounds are known to be both toxic and carcinogenic. However, silver nanoparticles have been showed diagnostic and therapeutic value. They can be used as biological tags for a quantitative detection and/or be incorporated into wound dressings and cosmetics due to their antibacterial properties. Pakistani and Iranian traditional physicians still take the advantage of silver compounds, called silver Kushta, to treat dementia, leprosy, and skin cancers. The present study compared the physicochemical properties of silver nanoparticles (AgNPs) and silver Kushtas (Pakistani silver Kushta (PKAg) and Iranian silver) in terms of the morphology, silver content, chemical composition, and suspension stability...
2017: Iranian Journal of Pharmaceutical Research: IJPR
https://www.readbyqxmd.com/read/28958595/the-mtdna-replication-related-genes-tfam-and-polg-are-associated-with-leprosy-in-han-chinese-from-southwest-china
#14
Dong Wang, Guo-Dong Li, Yu Fan, Deng-Feng Zhang, Rui Bi, Xiu-Feng Yu, Heng Long, Yu-Ye Li, Yong-Gang Yao
BACKGROUND: The pathogen Mycobacterium leprae of leprosy is heavily dependent on the host energy metabolites and nutritional products for survival. Previously we and others have identified associations of several mitochondrion-related genes and mitochondrial DNA (mtDNA) copy number alterations with leprosy and/or its subtype. We hypothesized that genetic variants of mtDNA replication-related genes would affect leprosy. OBJECTIVE: We aimed to identify genetic associations between the mtDNA replication-related genes TFAM, POLG and leprosy...
September 14, 2017: Journal of Dermatological Science
https://www.readbyqxmd.com/read/28948431/vulvar-involvement-in-pediatric-crohn-s-disease-a-systematic-review
#15
REVIEW
Roberta Granese, Gloria Calagna, Giuliana Morabito, Carmine Carriero, Antonio Perino, Gabriele Tonni, Claudio Romano
PURPOSE: The aim of the study is to report a systematic review (from 2000 to 2017) of all pediatric cases of vulvar Crohn's disease (VCD) and to highlight the key-points for a correct diagnosis and management of this rare condition. METHODS: An electronic search using the Pubmed/Medline, Scopus, EMBASE, Cochrane database and Google Scholar database was performed according to PRISMA guidelines. RESULTS: Twenty pediatric studies and 22 cases of VCD were included for analysis...
September 25, 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28943492/comparison-of-clinical-outcomes-of-multi-point-umbrella-suturing-and-single-purse-suturing-with-two-point-traction-after-procedure-for-prolapse-and-hemorrhoids-pph-surgery
#16
Huiyong Jiang, Xiuyan Hao, Ying Xin, Youzhen Pan
OBJECTIVES: To compare the clinical outcomes of multipoint umbrella suture and single-purse suture with two-point traction after procedure for prolapse and hemorrhoids surgery (PPH) for the treatment of mixed hemorrhoids. METHODS: Ninety patients were randomly divided into a PPH plus single-purse suture group (Group A) and a PPH plus multipoint umbrella suture (Group B). All operations were performed by an experienced surgeon. Operation time, width of the specimen, hemorrhoids retraction extent, postoperative pain, postoperative bleeding, and length of hospitalization were recorded and compared...
November 2017: International Journal of Surgery
https://www.readbyqxmd.com/read/28928537/antihyperlipidemic-activity-of-cassia-auriculata-flower-extract-in-oleic-acid-induced-hyperlipidemia-in-saccharomyces-cerevisiae
#17
Vijayakumar Rajendran, Anilkumar Krishnegowda, Vasanthi Nachiappan
The Cassia auriculata herb has been traditionally used in India for medicinal purposes to treat hyperglycemia, diabetes, rheumatism, asthma, and skin diseases. In the present study, ethanolic extract of Cassia auriculata flower (Et-CAF) depicted anti-hyperlipidemic effect in the budding yeast cells. The hyperlipidemic conditions were induced in the yeast cells with oleic acid which showed an increase in triacylglycerol (TAG) and sterol esters (SE), and was supported by the mRNA expression of LRO1 and DGA1 (involved in TAG formation); as well as ARE1 and ARE2 (involved in SE formation)...
August 2017: Journal of Food Science and Technology
https://www.readbyqxmd.com/read/28913302/eccrine-poroma-of-the-postauricular-area
#18
Hyun Rok Lee, Gyu Yong Jung, Hea Kyeong Shin, Dong Lark Lee, Jong Im Lee, Jung Hwan Kim
Eccrine poroma is a common benign cutaneous tumor that originates in an intraepidermal eccrine duct. This tumor exhibits acral distribution (sole, palm), and is rarely encountered in the head and neck area. In fact eccrine poroma in the postauricular area has only been rarely reported. A 55-year-old female visited our hospital with a main complaint of a mass that first developed in the left postauricular area about a year previously. The mass was painless, soft, protruding, domed, and dark red in color, and had slowly enlarged (at presentation it measured 1×1 cm)...
March 2017: Archives of Craniofacial Surgery
https://www.readbyqxmd.com/read/28912854/comparative-proteomics-analysis-of-primary-cutaneous-amyloidosis
#19
Daxing Cai, Yang Li, Chunlei Zhou, Yulin Jiang, Jian Jiao, Lin Wu
Primary cutaneous amyloidosis (PCA) is a localized skin disorder that is characterized by the abnormal deposition of amyloid in the extracellular matrix (ECM) of the dermis. The pathogenesis of PCA is poorly understood. The objective of the present study was to survey proteome changes in PCA lesions in order to gain insight into the molecular basis and pathogenesis of PCA. Total protein from PCA lesions and normal skin tissue samples were extracted and analyzed using the isobaric tags for relative and absolute quantitation technique...
October 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28883880/semi-lobar-holoprosencephaly-with-vertebral-segmentation-defects
#20
Birendra Rai, Farhana Sharif
Holoprosencephaly is the most common embryonic brain defect. Foetuses who survive during intrauterine life are born with varying grades of brain and facial deformities. Extra craniofacial manifestations are common. Vertebral segmentation defects are rarely seen with holoprosencephaly, mainly in association with holoprosencephaly diencephalic hamartoblastoma (HDH) association. A female infant was born at term by normal delivery. Birth head circumference was below the 3rd percentile. Antenatal scan had showed microcephaly as the only abnormality...
2017: Iranian Journal of Child Neurology
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