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https://www.readbyqxmd.com/read/29135812/optic-nerve-head-drusen-the-relationship-between-intraocular-pressure-and-optic-nerve-structure-and-function
#1
Kaitlyn W Nolan, Michael S Lee, Rohan A Jalalizadeh, Kevin C Firl, Gregory P Van Stavern, Collin M McClelland
OBJECTIVE: To determine whether at the time of diagnosis, the intraocular pressure (IOP) in patients with optic nerve head drusen (ONHD) correlates with the perimetric mean deviation (PMD) and the mean retinal nerve fiber layer (RNFL) thickness on optical coherence tomography (OCT). METHODS: This retrospective chart review included adults with ONHD from 2 academic medical centers. Inclusion criteria were age older than 18 years, definitive diagnosis of ONHD, measurement of IOP, and an automated visual field (VF) within 3 months of diagnosis...
November 9, 2017: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
https://www.readbyqxmd.com/read/29118960/from-the-padua-muscle-days-the-basic-and-applied-myology-and-the-european-journal-of-translational-myology-to-the-a-cm-carraro-foundation-for-translational-myology
#2
Ugo Carraro
As a young researched I had the option to work on skeletal muscle at the University of Padova, Italy. Introduced to the study of muscle denervation/reinnervation, I started a project on long term denervated muscle that still is my primary interest and took me from rodents' models of chronic muscle denervation to human spinal cord injury-related muscle denervation and its managements. On the way, I organized a series of conferences in Euganei Hills, Padua, Italy and an international journal, the Basic and Applied Myology...
June 27, 2017: European Journal of Translational Myology
https://www.readbyqxmd.com/read/29106414/cryo-em-structures-of-the-human-endolysosomal-trpml3-channel-in-three-distinct-states
#3
Xiaoyuan Zhou, Minghui Li, Deyuan Su, Qi Jia, Huan Li, Xueming Li, Jian Yang
TRPML3 channels are mainly localized to endolysosomes and play a critical role in the endocytic pathway. Their dysfunction causes deafness and pigmentation defects in mice. TRPML3 activity is inhibited by low endolysosomal pH. Here we present cryo-electron microscopy (cryo-EM) structures of human TRPML3 in the closed, agonist-activated, and low-pH-inhibited states, with resolutions of 4.06, 3.62, and 4.65 Å, respectively. The agonist ML-SA1 lodges between S5 and S6 and opens an S6 gate. A polycystin-mucolipin domain (PMD) forms a luminal cap...
November 6, 2017: Nature Structural & Molecular Biology
https://www.readbyqxmd.com/read/29103920/influence-of-the-anteromedial-thalamus-on-social-defeat-associated-contextual-fear-memory
#4
Miguel J Rangel, Marcus Vinicius C Baldo, Newton Sabino Canteras
The ventral part of the anteromedial thalamic nucleus (AMv) is heavily targeted by the dorsal premammillary nucleus (PMd), which is the main hypothalamic site that is responsive to both predator and conspecific aggressor threats. This PMd-AMv pathway is likely involved in modulating memory processing, and previous findings from our group have shown that cytotoxic lesions or pharmacological inactivation of the AMv drastically reduced contextual fear responses to predator-associated environments. In the present study, we investigated the role of the AMv in both unconditioned (i...
November 2, 2017: Behavioural Brain Research
https://www.readbyqxmd.com/read/29099651/nutritional-interventions-for-mitochondrial-oxphos-deficiencies-mechanisms-and-model-systems
#5
Adam J Kuszak, Michael Graham Espey, Marni J Falk, Marissa A Holmbeck, Giovanni Manfredi, Gerald S Shadel, Hilary J Vernon, Zarazuela Zolkipli-Cunningham
Multisystem metabolic disorders caused by defects in oxidative phosphorylation (OXPHOS) are severe and often lethal, conditions. Inborn errors of OXPHOS function are termed primary mitochondrial disorders (PMDs), and the use of nutritional interventions is routine in their supportive management. However, detailed mechanistic understanding and evidence for efficacy and safety of these interventions are limited. Preclinical cellular and animal model systems are important tools to investigate PMD metabolic mechanisms and therapeutic strategies...
November 3, 2017: Annual Review of Pathology
https://www.readbyqxmd.com/read/29076150/a-phase-1-clinical-trial-evaluating-marizomib-pomalidomide-and-low-dose-dexamethasone-in-relapsed-and-refractory-multiple-myeloma-npi-0052-107-final-study-results
#6
Andrew Spencer, Simon Harrison, Jeffrey Zonder, Ashraf Badros, Jacob Laubach, Krystal Bergin, Amit Khot, Todd Zimmerman, Dharminder Chauhan, Nancy Levin, Ann MacLaren, Steven D Reich, Mohit Trikha, Paul Richardson
Marizomib (MRZ) is an irreversible, pan-subunit proteasome inhibitor (PI) in clinical development for relapsed/refractory multiple myeloma (RRMM) and glioma. This study analysed MRZ, pomalidomide (POM) and low-dose dexamethasone (Lo-DEX) [PMD] in RRMM to evaluate safety and determine the maximum tolerated dose (MTD) and/or recommended Phase 2 dose (RP2D). Intravenous MRZ (0·3-0·5 mg/m(2) ) was administered over 2 h on days 1, 4, 8, 11; POM (3-4 mg) on days 1-21; and Lo-DEX (5 or 10 mg) on days 1, 2, 4, 5, 8, 9, 11, 12, 15, 16, 22 and 23 of every 28-day cycle...
October 26, 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/29073631/isolated-cleft-lip-and-palate-maxillary-gap-sign-and-palatino-maxillary-diameter-at-11-13-weeks
#7
Robert Lachmann, Uwe Schilling, Detlef Brückmann, Alexander Weichert, Andreas Brückmann
OBJECTIVE: To evaluate the maxillary gap sign and describe markers for the first-trimester diagnosis of isolated cleft lip and palate (CLP) at 11-13 weeks. METHODS: Firstly, this was a prospective assessment of 1,087 fetuses including 5 cases of isolated CLP in 2 centers which were referred for the 11-13 weeks scan. Secondly, intra- and interobserver variability of the maxillary gap sign was evaluated for observers R.L. and A.B. in 2 sessions (affected cases vs...
October 26, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/29073280/pea-marker-database-pmd-a-new-online-database-combining-known-pea-pisum-sativum-l-gene-based-markers
#8
Olga A Kulaeva, Aleksandr I Zhernakov, Alexey M Afonin, Sergei S Boikov, Anton S Sulima, Igor A Tikhonovich, Vladimir A Zhukov
Pea (Pisum sativum L.) is the oldest model object of plant genetics and one of the most agriculturally important legumes in the world. Since the pea genome has not been sequenced yet, identification of genes responsible for mutant phenotypes or desirable agricultural traits is usually performed via genetic mapping followed by candidate gene search. Such mapping is best carried out using gene-based molecular markers, as it opens the possibility for exploiting genome synteny between pea and its close relative Medicago truncatula Gaertn...
2017: PloS One
https://www.readbyqxmd.com/read/29060035/an-input-output-linear-time-invariant-model-captures-neuronal-firing-responses-to-external-and-behavioral-events
#9
Raina D'Aleo, Adam Rouse, Marc Schieber, Sridevi V Sarma
Investigating how neurons in different motor regions respond to external stimuli and behavioral events provides insight into motor control. A recent approach to studying neuronal activity is to construct a zero-input linear time invariant (ZI-LTI) state-space model, wherein the state vector consists of firing rate signals for different populations of neurons across motor regions. This approach allows for the populations to influence each other in a dynamical manner given an initial firing rate condition, and the model can accurately reconstruct firing rates within a limited epoch in the motor task during which no event occurs...
July 2017: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/29052568/genetic-testing-of-the-mucin-1-gene-variable-number-tandem-repeat-single-cytosine-insertion-mutation-in-a-chinese-family-with-medullary-cystic-kidney-disease
#10
Nuo Si, Ke Zheng, Jie Ma, Xiao-Lu Meng, Xue-Mei Li, Xue Zhang
BACKGROUND: Medullary cystic kidney disease (MCKD) is clinically indistinguishable from several other autosomal-dominant renal diseases; thus, molecular genetic testing is needed to establish a definitive diagnosis. A specific type of single cytosine insertion in the variable number tandem repeat (VNTR) of the mucin 1 (MUC1) gene is the only known cause of MCKD1; however, genetic analysis of this mutation is difficult and not yet offered routinely. To identify the causative mutation/s and establish a definitive diagnosis in a Chinese family with chronic kidney disease, clinical assessments and genetic analysis were performed, including using a modified genotyping method to identify the MUC1- VNTR single cytosine insertion...
October 20, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/29047493/chromatic-dispersion-measurement-along-both-polarization-directions-of-a-birefringent-hollow-core-photonic-crystal-fiber-using-spectral-interferometry
#11
Tímea Grósz, Attila P Kovács, Katalin Varjú
Applications based on photonic crystal fibers depend strongly on their dispersion properties that might differ from the desired specifications due to deficiencies in the manufacturing process. Since dispersion characteristics might also be affected by the placement of the fiber, in this paper the effect of various placements on the chromatic dispersion properties of a commercially available HC-800-02 photonic crystal fiber was investigated between 760 and 870 nm with Fourier-transform spectral interferometry...
July 1, 2017: Applied Optics
https://www.readbyqxmd.com/read/29046712/integration-of-human-papillomavirus-16-in-esophageal-carcinoma-samples
#12
Shuying Li, Haie Shen, Zhanjun Liu, Ning Li, Suxian Yang, Ke Zhang, Jintao Li
BACKGROUND: Esophageal carcinoma (EC) is one of the major cancers in China. In 1982, Syrjanen first hypothesized the relationship between human papillomavirus (HPV) infection and the development of esophageal cancer. Since then, many reports in the field have supported this viewpoint. This study investigated the etiological relationship between HPV infection and the occurrence of esophageal carcinoma at Tangshan City of the Hebei province in China. METHODS: 189 samples of esophageal carcinoma patients were collected...
2017: Infectious Agents and Cancer
https://www.readbyqxmd.com/read/29027761/oxidative-stress-and-mitochondrial-dynamics-malfunction-are-linked-in-pelizaeus-merzbacher-disease
#13
Montserrat Ruiz, Mélina Bégou, Nathalie Launay, Pablo Ranea-Robles, Patrizia Bianchi, Jone López-Erauskin, Laia Morató, Cristina Guilera, Bérengère Petit, Catherine Vaurs-Barriere, Céline Guéret-Gonthier, Marie-Noëlle Bonnet-Dupeyron, Stéphane Fourcade, Johan Auwerx, Odile Boespflug-Tanguy, Aurora Pujol
Pelizaeus-Merzbacher disease (PMD) is a fatal hypomyelinating disorder characterized by early impairment of motor development, nystagmus, choreoathetotic movements, ataxia and progressive spasticity. PMD is caused by variations in the proteolipid protein gene PLP1, which encodes the two major myelin proteins of the central nervous system, PLP and its spliced isoform DM20, in oligodendrocytes. Large duplications including the entire PLP1 gene are the most frequent causative mutation leading to the classical form of PMD...
October 13, 2017: Brain Pathology
https://www.readbyqxmd.com/read/29020604/predictors-of-favourable-outcome-after-in-hospital-cardiac-arrest-treated-with-extracorporeal-cardiopulmonary-resuscitation-a-systematic-review-and-meta-analysis
#14
REVIEW
Sonia D'Arrigo, Sofia Cacciola, Mark Dennis, Christian Jung, Eisuke Kagawa, Massimo Antonelli, Claudio Sandroni
AIMS: To identify the predictors of survival to discharge in adults resuscitated with extracorporeal cardiopulmonary resuscitation (ECPR) following in-hospital cardiac arrest (IHCA). METHODS: MEDLINE and ISI Web of Science were searched for eligible studies. Pooled Odds Ratio (OR) and Pooled Mean Difference (PMD) for each predictor were calculated. The quality of evidence (QOE) was evaluated according to the GRADE guidelines. RESULTS: Eleven studies were included totalling 856 patients...
October 8, 2017: Resuscitation
https://www.readbyqxmd.com/read/28962104/altered-functional-connectivity-in-patients-with-post-stroke-memory-impairment-a-resting-fmri-study
#15
Jiao Liu, Qin Wang, Feiwen Liu, Haiyan Song, Xiaofeng Liang, Zhengkun Lin, Wenjun Hong, Shanli Yang, Jia Huang, Guohua Zheng, Jing Tao, Li-Dian Chen
Post-stroke memory dysfunction (PMD) is one of the most common forms of cognitive impairment among stroke survivors. However, only a limited number of studies have directly investigated the neural mechanisms associated with memory decline. The aim of the present study was to identify dynamic changes in the functional organization of the default mode network (DMN) and the dorsal attention network of patients with PMD. A total of 27 patients with PMD who experienced a stroke in the right hemisphere were enrolled in the current study, along with 27 healthy control subjects matched by age, sex, and educational level...
September 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28958308/evidence-based-clinical-practice-guideline-for-the-evaluation-of-potentially-malignant-disorders-in%C3%A2-the-oral-cavity-a-report-of-the-american-dental-association
#16
Mark W Lingen, Elliot Abt, Nishant Agrawal, Anil K Chaturvedi, Ezra Cohen, Gypsyamber D'Souza, JoAnn Gurenlian, John R Kalmar, Alexander R Kerr, Paul M Lambert, Lauren L Patton, Thomas P Sollecito, Edmond Truelove, Malavika P Tampi, Olivia Urquhart, Laura Banfield, Alonso Carrasco-Labra
BACKGROUND: An expert panel convened by the American Dental Association (ADA) Council on Scientific Affairs and the Center for Evidence-Based Dentistry conducted a systematic review and formulated clinical recommendations to inform primary care clinicians about the potential use of adjuncts as triage tools for the evaluation of lesions, including potentially malignant disorders (PMDs), in the oral cavity. TYPES OF STUDIES REVIEWED: This is an update of the ADA's 2010 recommendations on the early diagnosis of PMDs and oral squamous cell carcinoma...
October 2017: Journal of the American Dental Association
https://www.readbyqxmd.com/read/28948694/pomegranate-by-products-in-colorectal-cancer-chemoprevention-effects-in-apc-mutated-pirc-rats-and-mechanistic-studies-in-vitro-and-ex-vivo
#17
Katia Tortora, Angelo Pietro Femia, Andrea Romagnoli, Irene Sineo, Mohamad Khatib, Nadia Mulinacci, Lisa Giovannelli, Giovanna Caderni
SCOPE: To investigate the effect of pomegranate mesocarp, a polyphenol-rich by-product of juice production, in colorectal cancer (CRC) chemoprevention. METHODS AND RESULTS: A mesocarp decoction (PMD) was administered for 6 weeks in the diet to Pirc rats, mutated in Apc, a key-gene in CRC. Mucin Depleted Foci (MDFs), as CRC biomarkers, were reduced in PMD-fed rats compared to Controls (MDF/colon: 34±4 vs 47±3, P = 0.02). Apoptosis in MDFs from PMD-treated rats was increased compared to Controls (2...
September 25, 2017: Molecular Nutrition & Food Research
https://www.readbyqxmd.com/read/28937143/crab-claw-pattern-on-corneal-topography-pellucid-marginal-degeneration-or-inferior-keratoconus
#18
M Koc, K Tekin, M Inanc, P Kosekahya, P Yilmazbas
PurposeTo evaluate the topographic, tomographic, and densitometric properties of patients with pellucid marginal degeneration (PMD) and inferior keratoconus.Patients and methodsRetrospective, comparative case series. Forty-seven eyes of 32 patients with crab claw patterns were identified from 2751 patients with corneal ectasia. They were divided into two groups, inferior keratoconus and PMD, based on clinical findings. The topographic, tomographic, and densitometric measurements were analyzed.ResultsPMD was detected in 11 eyes of eight patients (mean age 50...
September 22, 2017: Eye
https://www.readbyqxmd.com/read/28936784/cryo-em-structures-of-the-mammalian-endo-lysosomal-trpml1-channel-elucidate-the-combined-regulation-mechanism
#19
Sensen Zhang, Ningning Li, Wenwen Zeng, Ning Gao, Maojun Yang
TRPML1 channel is a non-selective group-2 transient receptor potential (TRP) channel with Ca(2+) permeability. Located mainly in late endosome and lysosome of all mammalian cell types, TRPML1 is indispensable in the processes of endocytosis, membrane trafficking, and lysosome biogenesis. Mutations of TRPML1 cause a severe lysosomal storage disorder called mucolipidosis type IV (MLIV). In the present study, we determined the cryo-electron microscopy (cryo-EM) structures of Mus musculus TRPML1 (mTRPML1) in lipid nanodiscs and Amphipols...
September 21, 2017: Protein & Cell
https://www.readbyqxmd.com/read/28931803/laminar-differences-in-decision-related-neural-activity-in-dorsal-premotor-cortex
#20
Chandramouli Chandrasekaran, Diogo Peixoto, William T Newsome, Krishna V Shenoy
Dorsal premotor cortex is implicated in somatomotor decisions. However, we do not understand the temporal patterns and laminar organization of decision-related firing rates in dorsal premotor cortex. We recorded neurons from dorsal premotor cortex of monkeys performing a visual discrimination task with reaches as the behavioral report. We show that these neurons can be organized along a bidirectional visuomotor continuum based on task-related firing rates. "Increased" neurons at one end of the continuum increased their firing rates ~150 ms after stimulus onset and these firing rates covaried systematically with choice, stimulus difficulty, and reaction time-characteristics of a candidate decision variable...
September 20, 2017: Nature Communications
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