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https://www.readbyqxmd.com/read/29668475/rare-renal-disease-in-macedonia-an-update
#1
Velibor Tasic, Zoran Gucev, Momir Polenakovic
Rare renal diseases (RRD) are an important category of rare disease (RD) as they can do great damage to the patients, families and society. The patient may undergo years even decades of numerous investigations including invasive procedures and yet not have definitive and precise diagnose and therefore, no opportunity for appropriate treatment. The great progress in molecular genetic techniques characterized many Mendelian diseases on molecular level. This gave the possibility for appropriate prevention and treatment interventions, genetic counseling and prenatal diagnosis...
December 1, 2017: Prilozi (Makedonska Akademija Na Naukite i Umetnostite. Oddelenie za Medicinski Nauki)
https://www.readbyqxmd.com/read/29665058/testicular-germ-cell-apoptosis-and-sperm-defects-in-mice-upon-long-term-high-fat-diet-feeding
#2
Songita Ghosh, Sutapa Mukherjee
The growing prevalence of male infertility is a matter of serious concern. One of the putative causes being nutritional excess from continuous consumption of high fat diet (HFD) leading to insulin resistance albeit the specific relationship is not fully understood. Besides, there are many contradictions in the available literature on the subject. Therefore, we sought to characterize in detail the effects of HFD upon testicular function and sperm quality in mice with particular focus on isolated testicular germ cells and spermatozoa, respectively...
April 17, 2018: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/29618858/a-comprehensive-functional-classification-of-cleft-hand-the-dast-concept
#3
Alok Sharma, Namita Sharma
Context: Phenotypic expressions of the congenital cleft hand are variable and might baffle even the experienced as to the choice of surgery. The morphological parameters defining the anomaly dictate not only the functional capacity of the anomalous hand but also the degree of possible surgical restoration. Despite a large number of classifying systems available, none encompass all the relevant issues. Aims: The purpose of this work is to present an all-inclusive and universally acceptable classification of the deformity which would graphically represent the entire gamut of possible presentations; principal and associated...
September 2017: Indian Journal of Plastic Surgery: Official Publication of the Association of Plastic Surgeons of India
https://www.readbyqxmd.com/read/29617379/climate-variability-and-cultural-eutrophication-at-walden-pond-massachusetts-usa-during-the-last-1800-years
#4
J Curt Stager, Brendan Wiltse, J Bradford Hubeny, Eric Yankowsky, David Nardelli, Richard Primack
Recent shifts in the ecological condition of Walden Pond, MA, are of potentially wide interest due to the lake's importance as a cultural, historical, and recreational resource in addition to its scientific value as an indicator of local and global environmental change. Algal microfossils in six sediment cores document changes in hydroclimate and trophic status of the lake during the last 1800 years and extend two previous sediment core records of shorter length. Low percentages of planktonic diatoms in the longest cores (WAL-3, WAL-15) indicate shallowing and/or greater water clarity associated with a relatively arid interval during the Medieval Climate Anomaly, ca...
2018: PloS One
https://www.readbyqxmd.com/read/29606190/potassium-bromate-induced-changes-in-the-adult-mouse-cerebellum-are-ameliorated-by-vanillin
#5
Hajer Ben Saad, Dorra Driss, Imen Jaballi, Hanen Ghozzi, Ons Boudawara, Michael Droguet, Christian Magné, Monsef Nasri, Khaled Mounir Zeghal, Ahmed Hakim, Ibtissem Ben Amara
OBJECTIVE: The current study aimed to elucidate the effect of vanillin on behavioral changes, oxidative stress, and histopathological changes induced by potassium bromate (KBrO3), an environmental pollutant, in the cerebellum of adult mice. METHODS: The animals were divided into four groups: group 1 served as a control, group 2 received KBrO3, group 3 received KBrO3 and vanillin, and group 4 received only vanillin. We then measured behavioral changes, oxidative stress, and molecular and histological changes in the cerebellum...
February 2018: Biomedical and Environmental Sciences: BES
https://www.readbyqxmd.com/read/29593266/compositional-heterogeneity-near-the-base-of-the-mantle-transition-zone-beneath-hawaii
#6
Chunquan Yu, Elizabeth A Day, Maarten V de Hoop, Michel Campillo, Saskia Goes, Rachel A Blythe, Robert D van der Hilst
Global seismic discontinuities near 410 and 660 km depth in Earth's mantle are expressions of solid-state phase transitions. These transitions modulate thermal and material fluxes across the mantle and variations in their depth are often attributed to temperature anomalies. Here we use novel seismic array analysis of SS waves reflecting off the 410 and 660 below the Hawaiian hotspot. We find amplitude-distance trends in reflectivity that imply lateral variations in wavespeed and density contrasts across 660 for which thermodynamic modeling precludes a thermal origin...
March 28, 2018: Nature Communications
https://www.readbyqxmd.com/read/29590634/-mek1-y130c-mice-recapitulate-aspects-of-human-cardio-facio-cutaneous-syndrome
#7
Rifdat Aoidi, Nicolas Houde, Kim Landry-Truchon, Michael Holter, Kevin Jacquet, Louis Charron, Suguna Rani Krishnaswami, Benjamin D Yu, Katherine A Rauen, Nicolas Bisson, Jason Newbern, Jean Charron
The RAS/MAPK signaling pathway is one of the most investigated pathways, owing to its established role in numerous cellular processes and implication in cancer. Germline mutations in genes encoding members of the RAS/MAPK pathway also cause severe developmental syndromes collectively known as RASopathies. These syndromes share overlapping characteristics, including craniofacial dysmorphology, cardiac malformations, cutaneous abnormalities and developmental delay. Cardio-facio-cutaneous syndrome (CFC) is a rare RASopathy associated with mutations in BRAF , KRAS , MEK1 ( MAP2K1 ) and MEK2 ( MAP2K2 )...
March 13, 2018: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/29569235/application-of-ert-saline-tracer-and-numerical-studies-to-delineate-preferential-paths-in-fractured-granites
#8
Sreeparvathy Vijay, Bvn P Kambhammettu, Srinivasa Rao Peddinti, Sarada Psl
Accurate quantification of in situ heterogeneity and flow processes through fractured geologic media remains elusive for hydrogeologists due to the complexity in fracture characterization and its multi-scale behavior. In this research, we demonstrated the efficacy of tracer-ERT experiments combined with numerical simulations to characterize heterogeneity and delineate preferential flow paths in a fractured granite aquifer. A series of natural gradient saline tracer experiments were conducted from a depth window of 18 to 22 m in an injection well located inside the IIT Hyderabad campus...
March 22, 2018: Ground Water
https://www.readbyqxmd.com/read/29564611/a-review-of-lumbosacral-transitional-vertebrae-and-associated-vertebral-numeration
#9
REVIEW
Jayson Lian, Nicole Levine, Woojin Cho
PURPOSE: To review the current literature on methods of accurate numeration of vertebral segments in patients with Lumbosacral transitional vertebrae (LSTVs). LSTVs are a common congenital anomaly of the L5-S1 junction. While their clinical significance has been debated, unquestionable is the need for their identification prior to spinal surgery. We hypothesize that there are no reliable landmarks by which we can accurately number transitional vertebrae, and thus a full spinal radiograph is required...
March 21, 2018: European Spine Journal
https://www.readbyqxmd.com/read/29548203/anomalous-vibrational-properties-in-the-continuum-limit-of-glasses
#10
Masanari Shimada, Hideyuki Mizuno, Atsushi Ikeda
The low-temperature thermal properties of glasses are anomalous with respect to those of crystals. These thermal anomalies indicate that the low-frequency vibrational properties of glasses differ from those of crystals. Recent studies revealed that, in the simplest model of glasses, i.e., the harmonic potential system, phonon modes coexist with soft localized modes in the low-frequency (continuum) limit. However, the nature of low-frequency vibrational modes of more realistic models is still controversial. In the present work, we study the Lennard-Jones (LJ) system using large-scale molecular-dynamics (MD) simulation and establish that the vibrational property of the LJ glass converges to coexistence of the phonon modes and the soft localized modes in the continuum limit as in the case of the harmonic potential system...
February 2018: Physical Review. E
https://www.readbyqxmd.com/read/29542968/quenching-the-chiral-magnetic-effect-via-the-gravitational-anomaly-and-holography
#11
Karl Landsteiner, Esperanza Lopez, Guillermo Milans Del Bosch
In the presence of a gravitational contribution to the chiral anomaly, the chiral magnetic effect induces an energy current proportional to the square of the temperature in equilibrium. In holography the thermal state corresponds to a black hole. We numerically study holographic quenches in which a planar shell of scalar matter falls into a black hole and raises its temperature. During the process the momentum density (energy current) is conserved. The energy current has two components, a nondissipative one induced by the anomaly and a dissipative flow component...
February 16, 2018: Physical Review Letters
https://www.readbyqxmd.com/read/29533921/symmetry-difference-electrical-impedance-tomography-a-novel-modality-for-anomaly-detection
#12
Barry James McDermott, Emily Porter, Marggie Jones, Brian McGinley, Martin O'Halloran
OBJECTIVE: The theoretical basis, experimental implementation, and proof of concept of a novel Electrical Impedance Tomography (EIT) imaging technique, called Symmetry Difference EIT, is described. This technique is applicable in situations where there is inherent symmetry in the region being imaged. METHODS: The sample scenario of the human head is used to describe the technique. The head is largely symmetrical across the sagittal plane. A unilateral lesion such as a haemorrhage or region of ischaemia distorts that symmetry...
March 13, 2018: Physiological Measurement
https://www.readbyqxmd.com/read/29524854/an-adult-ureterocele-complicated-by-a-large-stone-a-case-report
#13
Omar N Atta, Hussein H Alhawari, Muayyad M Murshidi, Emad Tarawneh, Mujalli M Murshidi
INTRODUCTION: Ureterocele is a cystic dilatation of the lower part of the ureter. It is a congenital anomaly that is associated with other anomalies such as a duplicated system, and other diseases. It poses a great challenge owing to its numerous types and clinical presentations. Its incidence is 1 in every 4000 individuals. One of its presentations in the adult population is the presence of a stone, usually a solitary stone, inside the ureterocele. CASE PRESENTATION: We are reporting a case of an adult ureterocele complicated by a large calculus; managed endoscopically with transurethral deroofing of the ureterocele followed by cystolitholapaxy...
February 28, 2018: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/29524155/reproductive-genetics-and-the-aging-male
#14
REVIEW
Alexander N Yatsenko, Paul J Turek
PURPOSE: To examine current evidence of the known effects of advanced paternal age on sperm genetic and epigenetic changes and associated birth defects and diseases in offspring. METHODS: Review of published PubMed literature. RESULTS: Advanced paternal age (> 40 years) is associated with accumulated damage to sperm DNA and mitotic and meiotic quality control mechanisms (mismatch repair) during spermatogenesis. This in turn causes well-delineated abnormalities in sperm chromosomes, both numerical and structural, and increased sperm DNA fragmentation (3%/year of age) and single gene mutations (relative risk, RR 10)...
March 9, 2018: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/29523172/prematurity-ventricular-septal-defect-and-dysmorphisms-are-independent-predictors-of-pathogenic-copy-number-variants-a-retrospective-study-on-array-cgh-results-and-phenotypical-features-of-293-children-with-neurodevelopmental-disorders-and-or-multiple-congenital
#15
I Maini, I Ivanovski, O Djuric, S G Caraffi, E Errichiello, M Marinelli, F Franchi, V Bizzarri, S Rosato, M Pollazzon, C Gelmini, M Malacarne, C Fusco, G Gargano, S Bernasconi, O Zuffardi, L Garavelli
BACKGROUND: Since 2010, array-CGH (aCGH) has been the first-tier test in the diagnostic approach of children with neurodevelopmental disorders (NDD) or multiple congenital anomalies (MCA) of unknown origin. Its broad application led to the detection of numerous variants of uncertain clinical significance (VOUS). How to appropriately interpret aCGH results represents a challenge for the clinician. METHOD: We present a retrospective study on 293 patients with age range 1 month - 29 years (median 7 years) with NDD and/or MCA and/or dysmorphisms, investigated through aCGH between 2005 and 2016...
March 9, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/29516863/survival-rates-and-the-occurrence-of-larval-malformations-including-siamese-twins-following-fertilization-of-post-ovulatory-aged-oocytes-in-ide-leuciscus-idus
#16
Joanna Nowosad, Mateusz Sikora, Dariusz Kucharczyk
Embryonic development of lower vertebrates can be influenced by many factors, especially when outside of the mother's body and under the influence of variable abiotic and biotic factors. In this study, the effects of fertilization of post-ovulatory aged (overmature) oocytes of ide Leuciscus idus on the risk of developing anomalies in ide larvae were assessed under controlled conditions. There was a negative effect of delayed fertilization of post-ovulatory aged (overmature) oocytes in the ovary on the quality of offspring, which caused reduced survival 3 days post-fertilization and at the hatching stage (68...
March 5, 2018: Diseases of Aquatic Organisms
https://www.readbyqxmd.com/read/29506241/pitx2-deficiency-and-associated-human-disease-insights-from-the-zebrafish-model
#17
Kathryn E Hendee, Elena A Sorokina, Sanaa S Muheisen, Linda M Reis, Rebecca C Tyler, Vujica Markovic, Goran Cuturilo, Brian A Link, Elena V Semina
The PITX2 (paired-like homeodomain 2) gene encodes a bicoid-like homeodomain transcription factor linked with several human disorders. The main associated congenital phenotype is Axenfeld-Rieger syndrome, type 1 (ARS), an autosomal dominant condition characterized by variable defects in the anterior segment of the eye, an increased risk of glaucoma, craniofacial dysmorphism and dental and umbilical anomalies; in addition to this, one report implicated PITX2 in ring dermoid of the cornea and a few others described cardiac phenotypes...
March 1, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29495400/delimiting-coalescence-genes-c-genes-in-phylogenomic-data-sets
#18
REVIEW
Mark S Springer, John Gatesy
coalescence methods have emerged as a popular alternative for inferring species trees with large genomic datasets, because these methods explicitly account for incomplete lineage sorting. However, statistical consistency of summary coalescence methods is not guaranteed unless several model assumptions are true, including the critical assumption that recombination occurs freely among but not within coalescence genes (c-genes), which are the fundamental units of analysis for these methods. Each c-gene has a single branching history, and large sets of these independent gene histories should be the input for genome-scale coalescence estimates of phylogeny...
February 26, 2018: Genes
https://www.readbyqxmd.com/read/29470427/application-of-ground-penetrating-radar-for-detecting-internal-anomalies-in-tree-trunks-with-irregular-contours
#19
Weilin Li, Jian Wen, Zhongliang Xiao, Shengxia Xu
To assess the health conditions of tree trunks, it is necessary to estimate the layers and anomalies of their internal structure. The main objective of this paper is to investigate the internal part of tree trunks considering their irregular contour. In this respect, we used ground penetrating radar (GPR) for non-invasive detection of defects and deteriorations in living trees trunks. The Hilbert transform algorithm and the reflection amplitudes were used to estimate the relative dielectric constant. The point cloud data technique was applied as well to extract the irregular contours of trunks...
February 22, 2018: Sensors
https://www.readbyqxmd.com/read/29404164/treatment-after-first-generation-epidermal-growth-factor-receptor-tyrosine-kinase-inhibitor-resistance-in-non-small-cell-lung-cancer
#20
REVIEW
Seher Nazlı Kazaz, İlhan Öztop
Systemic treatment is the basic treatment approach to advanced-stage non-small-cell lung cancer (NSCLC), and chemotherapy and targeted treatments are commonly employed in these patients. Recently, positive results achieved with immunotherapy have led to a growing number of treatment options and prolonged survival time. Today, specific tyrosine kinase inhibitors (TKIs), such as erlotinib, gefitinib, and afatinib, which target the epidermal growth factor receptor (EGFR), and the TKI crizotinib, which targets anaplastic lymphoma kinase gene rearrangement, have become the standard treatment among targeted therapies for patients with sensitive molecular anomalies...
July 2017: Turkish thoracic journal
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