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https://www.readbyqxmd.com/read/28346882/determination-of-prodrug-treosulfan-and-its-biologically-active-monoepoxide-in-rat-plasma-liver-lungs-kidneys-muscle-and-brain-by-hplc-esi-ms-ms-method
#1
Michał Romański, Anna Kasprzyk, Artur Teżyk, Agnieszka Widerowska, Czesław Żaba, Franciszek Główka
A prodrug treosulfan (TREO) is currently investigated in clinical trials for conditioning prior to hematopoietic stem cell transplantation. Bioanalysis of TREO and its active derivatives, monoepoxide (S,S-EBDM) and diepoxide, in plasma and urine underlay the pharmacokinetic studies of these compounds but cannot explain an organ pharmacological action or toxicity. Recently, distribution of TREO and S,S-EBDM into brain, cerebrospinal fluid, and aqueous humor of the eye has been investigated in animal models and the obtained results presented clinical relevance...
March 18, 2017: Journal of Pharmaceutical and Biomedical Analysis
https://www.readbyqxmd.com/read/28346479/rare-variants-in-fox-1-homolog-a-rbfox1-are-associated-with-lower-blood-pressure
#2
Karen Y He, Heming Wang, Brian E Cade, Priyanka Nandakumar, Ayush Giri, Erin B Ware, Jeffrey Haessler, Jingjing Liang, Jennifer A Smith, Nora Franceschini, Thu H Le, Charles Kooperberg, Todd L Edwards, Sharon L R Kardia, Xihong Lin, Aravinda Chakravarti, Susan Redline, Xiaofeng Zhu
Many large genome-wide association studies (GWAS) have identified common blood pressure (BP) variants. However, most of the identified BP variants do not overlap with the linkage evidence observed from family studies. We thus hypothesize that multiple rare variants contribute to the observed linkage evidence. We performed linkage analysis using 517 individuals in 130 European families from the Cleveland Family Study (CFS) who have been genotyped on the Illumina OmniExpress Exome array. The largest linkage peak was observed on chromosome 16p13 (MLOD = 2...
March 27, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28345801/zc4h2-deletions-can-cause-severe-phenotype-in-female-carriers
#3
Cristina Zanzottera, Donatella Milani, Enrico Alfei, Ambra Rizzo, Stefano D'Arrigo, Susanna Esposito, Chiara Pantaleoni
ZC4H2 is involved in human brain development, and, if mutated, can be responsible for a rare X-linked disorder, originally presented in literature as Wieacker-Wolff syndrome and Miles-Carpenter syndrome. In males, severe intellectual disability is associated with variable symptoms of central and peripheral nervous system involvement, such as spasticity, hyperreflexia, muscle weakness, and arthrogryposis. Female carriers are usually described as asymptomatic or only mildly affected. Here, we report on a girl carrying a de novo deletion of ZC4H2 detected by array-CGH analysis...
March 27, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28345573/clinical-correlation-of-imaging-findings-in-congenital-cranial-dysinnervation-disorders-involving-abducens-nerve
#4
Chanchal Gupta, Pradeep Sharma, Rohit Saxena, Ajay Garg, Sanjay Sharma
PURPOSE: High-resolution magnetic resonance imaging (MRI) of intracranial parts of sixth nerve and seventh nerve and the extraocular muscles (EOMs) in orbit to correlate the clinical characteristics in patients with two special forms of strabismus in congenital cranial dysinnervation disorders which are Duane's retraction syndrome (DRS) and Mobius syndrome. MATERIALS AND METHODS: Morphological analysis by 3T MRI of orbit (using surface coils) and brain (using 32 channel head coil) was performed on 6 patients with clinical DRS (1 bilateral), 2 cases with Mobius syndrome, and 1 case with congenital sixth nerve palsy...
February 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/28344549/functional-brain-activation-in-response-to-a-clinical-vestibular-test-correlates-with-balance
#5
Fatemeh Noohi, Catherine Kinnaird, Yiri DeDios, Igor S Kofman, Scott Wood, Jacob Bloomberg, Ajitkumar Mulavara, Rachael Seidler
The current study characterizes brain fMRI activation in response to two modes of vestibular stimulation: Skull tap and auditory tone burst. The auditory tone burst has been used in previous studies to elicit either a vestibulo-spinal reflex [saccular-mediated colic Vestibular Evoked Myogenic Potentials (cVEMP)], or an ocular muscle response [utricle-mediated ocular VEMP (oVEMP)]. Research suggests that the skull tap elicits both saccular and utricle-mediated VEMPs, while being faster and less irritating for subjects than the high decibel tones required to elicit VEMPs...
2017: Frontiers in Systems Neuroscience
https://www.readbyqxmd.com/read/28344438/learning-disabilities-in-neuromuscular-disorders-a-springboard-for-adult-life
#6
Guja Astrea, Roberta Battini, Sara Lenzi, Silvia Frosini, Silvia Bonetti, Elena Moretti, Silvia Perazza, Filippo M Santorelli, Chiara Pecini
Although the presence of cognitive deficits in Duchenne muscular dystrophy or myotonic dystrophy DM1 is well established in view of brain-specific expression of affected muscle proteins, in other neuromuscular disorders, such as congenital myopathies and limb-girdle muscular dystrophies, cognitive profiles are poorly defined. Also, there are limited characterization of the cognitive profile of children with congenital muscular dystrophies, notwithstanding the presence of cerebral abnormality in some forms, and in spinal muscular atrophies, with the exception of distal spinal muscular atrophy (such as the DYN1CH1- associated form)...
October 2016: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/28344366/mercury-in-feathers-and-blood-of-gulls-from-the-southern-baltic-coast-poland
#7
Emilia Szumiło-Pilarska, Lucyna Falkowska, Agnieszka Grajewska, Włodzimierz Meissner
Gulls were assessed as sentinels of contamination in the coastal zone of the Southern Baltic, research material being obtained from dead birds collected on Polish beaches and near fishing ports in 2009-2012. In feathers and blood of four gull species: herring gull (Larus argentatus), common gull (Larus canus), black-headed gull (Chroicocephalus ridibundus), and great black-backed gull (Larus marinus), concentration of total mercury (HgT) was assayed, taking into account the type of feathers, sex, and age. Stable isotopes (δ(15)N, δ(13)C) were used as tracers of trophic position in the food web...
2017: Water, Air, and Soil Pollution
https://www.readbyqxmd.com/read/28344055/role-of-skeletal-muscle-glucocorticoid-receptor-in-systemic-energy-homeostasis
#8
REVIEW
Hirotoshi Tanaka, Noriaki Shimizu, Noritada Yoshikawa
Glucocorticoids (GCs) affect nearly every organ and tissue in the body, regulating diverse physiologic processes including energy homeostasis. The metabolic mission of GCs is to supply enough glucose into the circulation to fuel the brain and ensure survival of the organism under conditions of acute stress or starvation. Recent studies have revealed that GCs, via orchestration between multiple organs, physiologically elicit fine tuning of systemic energy metabolism.
March 24, 2017: Experimental Cell Research
https://www.readbyqxmd.com/read/28343976/prophylactic-cranial-irradiation-versus-observation-in-patients-with-extensive-disease-small-cell-lung-cancer-a-multicentre-randomised-open-label-phase-3-trial
#9
Toshiaki Takahashi, Takeharu Yamanaka, Takashi Seto, Hideyuki Harada, Hiroshi Nokihara, Hideo Saka, Makoto Nishio, Hiroyasu Kaneda, Koichi Takayama, Osamu Ishimoto, Koji Takeda, Hiroshige Yoshioka, Motoko Tachihara, Hiroshi Sakai, Koichi Goto, Nobuyuki Yamamoto
BACKGROUND: Results from a previous phase 3 study suggested that prophylactic cranial irradiation reduces the incidence of symptomatic brain metastases and prolongs overall survival compared with no prophylactic cranial irradiation in patients with extensive-disease small-cell lung cancer. However, because of the absence of brain imaging before enrolment and variations in chemotherapeutic regimens and irradiation doses, concerns have been raised about these findings. We did a phase 3 trial to reassess the efficacy of prophylactic cranial irradiation in the treatment of extensive-disease small-cell lung cancer...
March 23, 2017: Lancet Oncology
https://www.readbyqxmd.com/read/28343847/global-developmental-delay-and-intellectual-disability-associated-with-a-de-novo-top2b-mutation
#10
Ching-Wan Lam, Wai-Lan Yeung, Chun-Yiu Law
BACKGROUND: More than 100 genes had been identified for autism spectrum disorder (ASD). With the advancement of whole-exome/genome sequencing (WES/WGS), disease-causing gene in ASD can be identified in a holistic and unbiased approach. The identification of new ASD genes can further explore the molecular basis of ASD. METHODS: We report a 15yo girl with developmental delay, intellectual disability, hypotonia, microcephaly and autistic feature. She first presented at 6months old with primitive response to noise...
March 23, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28343573/metabolic-and-cellular-stress-responses-of-catfish-horabagrus-brachysoma-g%C3%A3-nther-acclimated-to-increasing-temperatures
#11
Rishikesh S Dalvi, Tilak Das, Dipesh Debnath, Sona Yengkokpam, Kartik Baruah, Lalchand R Tiwari, Asim K Pal
We investigated the metabolic and cellular stress responses in an endemic catfish Horabagrus brachysoma acclimated to ambient (26°C), 31, 33 and 36°C for 30 days. After acclimation, fish were sampled to investigate changes in the levels of blood glucose, tissue glycogen and ascorbic acid, activities of enzymes involved in glycolysis (LDH), citric acid cycle (MDH), gluconeogenesis (FBPase and G6Pase), pentose phosphate pathway (G6PDH), protein metabolism (AST and ALT), phosphate metabolism (ACP and ALP) and energy metabolism (ATPase), and HSP70 levels in various tissues...
April 2017: Journal of Thermal Biology
https://www.readbyqxmd.com/read/28343007/bioconcentration-and-multi-biomarkers-of-organic-uv-filters-bm-dbm-and-od-paba-in-crucian-carp
#12
Binni Ma, Guanghua Lu, Jianchao Liu, Zhenhua Yan, Haohan Yang, Ting Pan
Organic UV filters (OUV-Fs) are increasingly used in sunscreens and personal care products. In the present work, the bioconcentration and multi-biomarker effects of butyl methoxydibenzoylmethane (BM-DBM) and ethylhexyl dimethyl p-aminobenzoate (OD-PABA) were investigated in crucian carp (Carassius auratus). The fish were exposed to various concentrations of BM-DBM (3.88, 35.61, 181.85 and 337.15μg/L), OD-PABA (4.66, 53.83, 264.22 and 459.32μg/L) and their mixture (2.31+2.79, 23.69+26.18, 97.37+134.81 and 193...
March 23, 2017: Ecotoxicology and Environmental Safety
https://www.readbyqxmd.com/read/28342747/subthalamic-nucleus-beta-and-gamma-activity-is-modulated-depending-on-the-level-of-imagined-grip-force
#13
Petra Fischer, Alek Pogosyan, Binith Cheeran, Alexander L Green, Tipu Z Aziz, Jonathan Hyam, Simon Little, Thomas Foltynie, Patricia Limousin, Ludvic Zrinzo, Marwan Hariz, Michael Samuel, Keyoumars Ashkan, Peter Brown, Huiling Tan
Motor imagery involves cortical networks similar to those activated by real movements, but the extent to which the basal ganglia are recruited is not yet clear. Gamma and beta oscillations in the subthalamic nucleus (STN) vary with the effort of sustained muscle activity. We recorded local field potentials in Parkinson's disease patients and investigated if similar changes can be observed during imagined gripping at three different 'forces'. We found that beta activity decreased significantly only for imagined grips at the two stronger force levels...
March 22, 2017: Experimental Neurology
https://www.readbyqxmd.com/read/28342444/acid-ceramidase-deficiency-in-mice-results-in-a-broad-range-of-central-nervous-system-abnormalities
#14
Jakub Sikora, Shaalee Dworski, E Ellen Jones, Mustafa A Kamani, Matthew C Micsenyi, Tomo Sawada, Pauline Le Faouder, Justine Bertrand-Michel, Aude Dupuy, Christopher K Dunn, Ingrid Cong Yang Xuan, Josefina Casas, Gemma Fabrias, David R Hampson, Thierry Levade, Richard R Drake, Jeffrey A Medin, Steven U Walkley
Farber disease is a rare autosomal recessive disorder caused by acid ceramidase deficiency that usually presents as early-onset progressive visceral and neurologic disease. To understand the neurologic abnormality, we investigated behavioral, biochemical, and cellular abnormalities in the central nervous system of Asah1(P361R/P361R) mice, which serve as a model of Farber disease. Behaviorally, the mutant mice had reduced voluntary locomotion and exploration, increased thigmotaxis, abnormal spectra of basic behavioral activities, impaired muscle grip strength, and defects in motor coordination...
April 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/28342407/music-and-natural-sounds-in-an-auditory-steady-state-response-based-brain-computer-interface-to-increase-user-acceptance
#15
Jeong Heo, Hyun Jae Baek, Seunghyeok Hong, Min Hye Chang, Jeong Su Lee, Kwang Suk Park
Patients with total locked-in syndrome are conscious; however, they cannot express themselves because most of their voluntary muscles are paralyzed, and many of these patients have lost their eyesight. To improve the quality of life of these patients, there is an increasing need for communication-supporting technologies that leverage the remaining senses of the patient along with physiological signals. The auditory steady-state response (ASSR) is an electro-physiologic response to auditory stimulation that is amplitude-modulated by a specific frequency...
March 18, 2017: Computers in Biology and Medicine
https://www.readbyqxmd.com/read/28340081/retroocular-and-subdural-hemorrhage-or-hemosiderin-deposits-in-pediatric-autopsies
#16
Marc R Del Bigio, Susan M Phillips
The presence of hemosiderin in the optic nerve sheath and/or retina is sometimes used to estimate the timing of injury in infants or children with suspected non-accidental head trauma. To determine the prevalence of hemosiderin in deaths not associated with trauma, we performed a prospective study of retroocular orbital tissue, cranial convexity, and cervical spinal cord dura mater in infants and children <2.5 years age. In 53 cases of non-traumatic death, approximately 70% had blood or hemosiderin within the orbital fat, ocular muscles, and parasagittal cranial and/or cervical spinal subdural compartment...
March 14, 2017: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/28338578/spinal-cord-is-the-primary-site-of-action-for-skeletal-muscle-relaxation-by-sevoflurane
#17
Peng Zhang, Pingliang Yang, Ling Ye, Tao Zhu
STUDY DESIGN: A randomized, in vivo study was performed to explore the skeletal muscle relaxation action site of sevoflurane. OBJECTIVE: The aim of this study was to investigate the skeletal muscle relaxation action of sevoflurane by a modified selective anesthetics delivery rabbit model. SUMMARY OF BACKGROUND DATA: The action site and mechanisms of skeletal muscle relaxation caused by sevoflurane was unclear. So a modified selective anesthetics delivery model was used...
March 23, 2017: Spine
https://www.readbyqxmd.com/read/28337713/the-potential-role-of-fibroblast-growth-factor-21-in-lipid-metabolism-and-hypertension
#18
REVIEW
Zhe Huang, Aimin Xu, Bernard M Y Cheung
Fibroblast growth factor (FGF) 21 belongs to the FGF superfamily that is involved in cell proliferation and differentiation, neural development, angiogenesis, and metabolism. FGF21 requires β-Klotho as a co-receptor. Tissues involved in metabolism such as the liver, adipose tissues, skeletal muscle, and pancreas express FGF21. Starvation increases hepatic expression of FGF21, which then acts centrally to increase hepatic gluconeogenesis. FGF21 also increases fatty acid oxidation. This may be relevant in cold exposure, when expression of FGF21 is induced...
April 2017: Current Hypertension Reports
https://www.readbyqxmd.com/read/28337539/homer1-vesl-1-in-the-rat-esophagus-focus-on-myenteric-plexus-and-neuromuscular-junction
#19
J Zimmermann, W L Neuhuber, M Raab
Homer1, a scaffolding protein of the postsynaptic density (PSD), enriched at excitatory synapses is known to anchor and modulate group I metabotropic glutamate receptors (mGluRs) and different channel- and receptor-proteins. Homer proteins are expressed in neurons of different brain regions, but also in non-neuronal tissues like skeletal muscle. Occurrence and location of Homer1 and mGluR5 in myenteric plexus and neuromuscular junctions (NMJ) of rat esophagus have yet not been characterized. We located Homer1 and mGluR5 immunoreactivity (-iry) in rat esophagus and focused on myenteric neurons, intraganglionic laminar endings (IGLEs) and NMJs, using double- and triple-label immunohistochemistry and confocal laser scanning microscopy...
March 23, 2017: Histochemistry and Cell Biology
https://www.readbyqxmd.com/read/28334855/slc30a9-mutation-affecting-intracellular-zinc-homeostasis-causes-a-novel-cerebro-renal-syndrome
#20
Yonatan Perez, Zamir Shorer, Keren Liani-Leibson, Pauline Chabosseau, Rotem Kadir, Michael Volodarsky, Daniel Halperin, Shiran Barber-Zucker, Hanna Shalev, Ruth Schreiber, Libe Gradstein, Evgenia Gurevich, Raz Zarivach, Guy A Rutter, Daniel Landau, Ohad S Birk
A novel autosomal recessive cerebro-renal syndrome was identified in consanguineous Bedouin kindred: neurological deterioration was evident as of early age, progressing into severe intellectual disability, profound ataxia, camptocormia and oculomotor apraxia. Brain MRI was normal. Four of the six affected individuals also had early-onset nephropathy with features of tubulo-interstitial nephritis, hypertension and tendency for hyperkalemia, though none had rapid deterioration of renal function. Genome wide linkage analysis identified an ∼18 Mb disease-associated locus on chromosome 4 (maximal logarithm of odds score 4...
February 9, 2017: Brain: a Journal of Neurology
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