keyword
MENU ▼
Read by QxMD icon Read
search

PMD

keyword
https://www.readbyqxmd.com/read/28334874/efficient-cnv-breakpoint-analysis-reveals-unexpected-structural-complexity-and-correlation-of-dosage-sensitive-genes-with-clinical-severity-in-genomic-disorders
#1
Ling Zhang, Jingmin Wang, Cheng Zhang, Dongxiao Li, Claudia M B Carvalho, Haoran Ji, Jianqiu Xiao, Ye Wu, Weichen Zhou, Hongyan Wang, Li Jin, Yang Luo, Xiru Wu, James R Lupski, Feng Zhang, Yuwu Jiang
Genomic disorders are the clinical conditions manifested by submicroscopic genomic rearrangements including copy number variants (CNVs). The CNVs can be identified by array-based comparative genomic hybridization (aCGH), the most commonly used technology for molecular diagnostics of genomic disorders. However, clinical aCGH only informs CNVs in the probe interrogated regions. Neither orientational information nor the resulting genomic rearrangement structure is provided, which is a key to uncovering mutational and pathogenic mechanisms underlying genomic disorders...
March 14, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28330094/characterization-of-antibiotic-resistant-and-enzyme-producing-bacterial-strains-isolated-from-the-arabian-sea
#2
Preeti N Tallur, Dayanand B Sajjan, Sikandar I Mulla, Manjunatha P Talwar, A Pragasam, Vinayak M Nayak, Harichandra Z Ninnekar, Shivanand S Bhat
Marine bacteria are known to produce many bioactive molecules and extracellular enzymes of commercial importance. We have investigated the bacterial diversity of the coastal area of Karwar, Karnataka State, India. Among these bacterial isolates, five bacterial strains were selected and identified by their morphological, biochemical characteristics and phylogenetic analysis based on 16S rRNA gene sequences. The identified bacterial isolates, Bacillus toyonensis PNTB1, Lysinibacillus sphaericus PTB, Vibrio vulnificus PMD, Shewanella MPTDBS, and Pseudomonas chlororaphis PNTB were characterized for their tolerance to salt and antibiotics...
June 2016: 3 Biotech
https://www.readbyqxmd.com/read/28328133/an-xq22-1q22-2-nullisomy-in-a-male-patient-with-severe-neurological-impairment
#3
Kentaro Shirai, Yuya Higashi, Keiko Shimojima, Toshiyuki Yamamoto
The proteolipid protein 1 gene (PLP1) is located on chromosome Xq22.2 and is related to X-linked recessive leukoencephalopathy (Pelizaeus-Merzbacher disease: PMD). Compared to PLP1 duplications, which are a major contributor to PMD, chromosomal deletions in this region are rare and only a few PMD patients with small deletions have been reported, suggesting that large deletions of this region would cause embryonic lethality. Previously, we have reported female patients, with chromosomal deletions in this region, who showed severe developmental delays and behavioral abnormalities...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28322424/perinatal-mental-disorders-in-switzerland-prevalence-estimates-and-use-of-mental-health-services
#4
Anke Berger, Nicole Bachmann, Andri Signorell, Rebekka Erdin, Stephan Oelhafen, Oliver Reich, Eva Cignacco
BACKGROUND: Perinatal mental disorders (PMDs) are the most common complication of pregnancy and the first postpartum year. Since PMD prevalence and use of mental-health services by perinatal women in Switzerland are unknown, we analysed existing health statistics. METHODS: We used statistics from a large health insurance company, hospitals and freelance midwives. We assessed the annual rates of mental-healthcare use in perinatal women (n = 13 969). We ascertained the annual rates of PMD treatment in obstetric inpatients (n = 89 699), and annual rates of PMD records by freelance midwives (n = 57 951)...
March 21, 2017: Swiss Medical Weekly
https://www.readbyqxmd.com/read/28320702/actinic-cheilosis-early-intervention-prevents-malignant-transformation
#5
Arvind Muthukrishnan, Laliytha Bijai Kumar
Potentially malignant disorders (PMD) have a high risk of malignant transformation. Habits such as tobacco and alcohol use predispose to PMD and subsequently to an oral carcinoma. Oral squamous cell carcinoma (OSCC) can occur even without the usage of tobacco. Occupational exposure to actinic rays may predispose to the development of OSCC in the lip. People who are involved in farming or those exposed to an environmental background radiation, such as ultraviolet rays, develop a PMD called actinic cheilosis...
March 20, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28299610/pharmacovigilance-of-regenerative-medicine-under-the-amended-pharmaceutical-affairs-act-in-japan
#6
Yasuko Inokuma
Two Japanese regulatory agencies, the Ministry of Health, Labour and Welfare and the Pharmaceuticals and Medical Devices Agency announced the implementation of a new review system called 'Conditional Approval,' specifically for the emerging field of regenerative medicine, in an amendment to the Pharmaceutical Affairs Act in 2014. Regenerative medicine was regulated in the category of 'Medical Devices' prior to the amendment and was not covered by the Relief Service, a system that provides financial aid to people who have experienced an adverse drug reaction and developed serious side effects as a result...
March 15, 2017: Drug Safety: An International Journal of Medical Toxicology and Drug Experience
https://www.readbyqxmd.com/read/28286750/cellular-pathology-of-pelizaeus-merzbacher-disease-involving-chaperones-associated-with-endoplasmic-reticulum-stress
#7
REVIEW
Ken Inoue
Disease-causing mutations in genes encoding membrane proteins may lead to the production of aberrant polypeptides that accumulate in the endoplasmic reticulum (ER). These mutant proteins have detrimental conformational changes or misfolding events, which result in the triggering of the unfolded protein response (UPR). UPR is a cellular pathway that reduces ER stress by generally inhibiting translation, increasing ER chaperones levels, or inducing cell apoptosis in severe ER stress. This process has been implicated in the cellular pathology of many neurological disorders, including Pelizaeus-Merzbacher disease (PMD)...
2017: Frontiers in Molecular Biosciences
https://www.readbyqxmd.com/read/28286476/decoding-movement-goals-from-the-fronto-parietal-reach-network
#8
Hanna Gertz, Angelika Lingnau, Katja Fiehler
During reach planning, fronto-parietal brain areas need to transform sensory information into a motor code. It is debated whether these areas maintain a sensory representation of the visual cue or a motor representation of the upcoming movement goal. Here, we present results from a delayed pro-/anti-reach task which allowed for dissociating the position of the visual cue from the reach goal. In this task, the visual cue was combined with a context rule (pro vs. anti) to infer the movement goal. Different levels of movement goal specification during the delay were obtained by presenting the context rule either before the delay together with the visual cue (specified movement goal) or after the delay (underspecified movement goal)...
2017: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/28277114/interdisciplinary-consensus-on-management-of-premenstrual-disorders-in-switzerland
#9
Petra Stute, Christine Bodmer, Ulrike Ehlert, Roger Eltbogen, Ankica Ging, Isabelle Streuli, Michael von Wolff
Premenstrual disorders (PMD) can affect women throughout their entire reproductive years. In 2016, an interdisciplinary expert meeting of general gynecologists, gynecological endocrinologists, psychiatrists and psychologists from Switzerland was held to provide an interdisciplinary algorithm on PMD management taking reproductive stages into account. The Swiss PMD algorithm differentiates between primary and secondary PMD care providers incorporating different levels of diagnostic and treatment. Treatment options include cognitive behavioral therapy, alternative therapy, antidepressants, ovulation suppression and diuretics...
March 2, 2017: Gynecological Endocrinology
https://www.readbyqxmd.com/read/28253075/the-contribution-of-different-cortical-regions-to-the-control-of-spatially-decoupled-eye-hand-coordination
#10
Patricia F Sayegh, Diana J Gorbet, Kara M Hawkins, Kari L Hoffman, Lauren E Sergio
Our brain's ability to flexibly control the communication between the eyes and the hand allows for our successful interaction with the objects located within our environment. This flexibility has been observed in the pattern of neural responses within key regions of the frontoparietal reach network. More specifically, our group has shown how single-unit and oscillatory activity within the dorsal premotor cortex (PMd) and the superior parietal lobule (SPL) change contingent on the level of visuomotor compatibility between the eyes and hand...
March 2, 2017: Journal of Cognitive Neuroscience
https://www.readbyqxmd.com/read/28252958/mixed-probe-simulation-and-probe-derived-surface-topography-map-analysis-for-ligand-binding-site-identification
#11
Abdallah Sayyed-Ahmad, Alemayehu A Gorfe
Membrane proteins represent a considerable fraction of pharmaceutical drug targets. A computational technique to identify ligand binding pockets in these proteins is therefore of great importance. We recently reported such a technique called pMD-membrane that utilizes small molecule probes to detect ligand binding sites and surface hotspots on membrane proteins based on probe-based molecular dynamics simulation. The current work extends pMD-membrane to a diverse set of small organic molecular species that can be used as cosolvents during simulation of membrane proteins...
March 13, 2017: Journal of Chemical Theory and Computation
https://www.readbyqxmd.com/read/28241660/on-the-limits-of-digital-back-propagation-in-the-presence-of-transceiver-noise
#12
Lidia Galdino, Daniel Semrau, Domaniç Lavery, Gabriel Saavedra, Cristian B Czegledi, Erik Agrell, Robert I Killey, Polina Bayvel
This paper investigates the impact of transceiver noise on the performance of digital back-propagation (DBP). A generalized expression to estimate the signal-to-noise ratio (SNR) obtained using DBP in the presence of transceiver noise is described. This new expression correctly accounts for the nonlinear beating between the transceiver noise and the signal in the optical fiber transmission link. The transceiver noise-signal nonlinear beating has been identified as the main reason for the discrepancy between predicted and practical performance of DBP; which has not been previously suggested...
February 20, 2017: Optics Express
https://www.readbyqxmd.com/read/28219983/neural-representation-and-causal-models-in-motor-cortex
#13
Kris S Chaisanguanthum, Helen H Shen, Philip N Sabes
Dorsal premotor (PMd) and primary motor (M1) cortex play a central role in mapping sensation to movement. Many studies of these areas have focused on correlation-based tuning curves relating neural activity to task or movement parameters, but the link between tuning and movement generation is unclear. We recorded motor preparatory activity from populations of neurons in PMd/M1 as macaque monkeys performed a visually guided reaching task and show that tuning curves for sensory inputs (reach target direction) and motor outputs (initial movement direction) are not typically aligned...
February 20, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28213119/the-heterogeneity-of-the-left-dorsal-premotor-cortex-evidenced-by-multimodal-connectivity-based-parcellation-and-functional-characterization
#14
Sarah Genon, Andrew Reid, Hai Li, Lingzhong Fan, Veronika I Müller, Edna C Cieslik, Felix Hoffstaedter, Robert Langner, Christian Grefkes, Angela R Laird, Peter T Fox, Tianzi Jiang, Katrin Amunts, Simon B Eickhoff
Despite the common conception of the dorsal premotor cortex (PMd) as a single brain region, its diverse connectivity profiles and behavioral heterogeneity argue for a differentiated organization of the PMd. A previous study revealed that the right PMd is characterized by a rostro-caudal and a ventro-dorsal distinction dividing it into five subregions: rostral, central, caudal, ventral and dorsal. The present study assessed whether a similar organization is present in the left hemisphere, by capitalizing on a multimodal data-driven approach combining connectivity-based parcellation (CBP) based on meta-analytic modeling, resting-state functional connectivity, and probabilistic diffusion tractography...
February 14, 2017: NeuroImage
https://www.readbyqxmd.com/read/28196544/diagnostic-error-in-the-emergency-department-follow-up-of-patients-with-minor-trauma-in-the-outpatient-clinic
#15
Pieter-Jan Moonen, Luc Mercelina, Willem Boer, Tom Fret
BACKGROUND: The Emergency Department (ED) is prone to diagnostic error. Most frequent diagnostic errors involved "minor" trauma. Our goal was to determine how frequently a missed diagnosis was detected during follow up and to determine the frequency and causes of primary missed diagnosis and diagnostic error. METHODS: A retrospective single centre study review, during 6 months including all patients presenting to the outpatient clinic after ED admission with a minor trauma...
February 14, 2017: Scandinavian Journal of Trauma, Resuscitation and Emergency Medicine
https://www.readbyqxmd.com/read/28196288/clinical-adequacy-assessment-of-auto-contours-for-prostate-imrt-with-meaningful-endpoints
#16
Hamidreza Nourzadeh, William T Watkins, Mahmoud Ahmad, Cheukkai Hui, David Schlesinger, Jeffrey V Siebers
PURPOSE: To determine if radiation treatment plans created based on auto-segmented (AS) regions-of-interest (ROI)s are clinically equivalent to plans created based on manually segmented ROIs, where equivalence is evaluated using probabilistic dosimetric metrics and probabilistic biological endpoints for prostate IMRT. METHOD AND MATERIALS: Manually drawn contours and auto-segmented ROIs were created for 167 CT image sets acquired from 19 prostate patients. Auto-segmentation was performed utilizing Pinnacle's Smart Probabilistic Image Contouring Engine...
February 14, 2017: Medical Physics
https://www.readbyqxmd.com/read/28188954/comparative-glandular-trichome-transcriptome-based-gene-characterization-reveals-reasons-for-differential-menthol-biosynthesis-in-mentha-species
#17
Md Qussen Akhtar, Nida Qamar, Pallavi Yadav, Pallavi Kulkarni, Ajay Kumar, Ajit Kumar Shasany
The genes involved in menthol biosynthesis are reported earlier in Mentha × piperita. But the information on these genes is not available in Mentha arvensis. To bridge the gap in knowledge on differential biosynthesis of monoterpenes leading to compositional variation in the essential oil of these species, a comparative transcriptome analysis of the glandular trichome was carried out. In addition to the MVA and MEP pathway genes, about 210 and 196 different terpene synthases (TPS) transcripts were identified from annotation in M...
February 11, 2017: Physiologia Plantarum
https://www.readbyqxmd.com/read/28133555/familial-case-of-pelizaeus-merzbacher-disorder-detected-by-oligoarray-comparative-genomic-hybridization-genotype-to-phenotype-diagnosis
#18
Kimia Najafi, Roxana Kariminejad, Kaveh Hosseini, Azadeh Moshtagh, Gole Maryam Abbassi, Neda Sadatian, Masood Bazrgar, Ariana Kariminejad, Mohamad Hassan Kariminejad
Introduction. Pelizaeus-Merzbacher disease (PMD) is an X-linked recessive hypomyelinating leukodystrophy characterized by nystagmus, spastic quadriplegia, ataxia, and developmental delay. It is caused by mutation in the PLP1 gene. Case Description. We report a 9-year-old boy referred for oligoarray comparative genomic hybridization (OA-CGH) because of intellectual delay, seizures, microcephaly, nystagmus, and spastic paraplegia. Similar clinical findings were reported in his older brother and maternal uncle...
2017: Case Reports in Genetics
https://www.readbyqxmd.com/read/28120226/identification-and-future-description-of-warming-signatures-over-pakistan-with-special-emphasis-on-evolution-of-co2-levels-and-temperature-during-the-first-decade-of-the-twenty-first-century
#19
Khadija Haider, Muhammad Fahim Khokhar, Farrukh Chishtie, Waseem RazzaqKhan, Khalid Rehman Hakeem
Like other developing countries, Pakistan is also facing changes in temperature per decade and other climatic abnormalities like droughts and torrential rains. In order to assess and identify the extent of temperature change over Pakistan, the whole Pakistan was divided into five climatic zones ranging from very cold to hot and dry climates. Similarly, seasons in Pakistan are defined on the basis of monsoon variability as winter, pre-monsoon, monsoon, and post-monsoon. This study primarily focuses on the comparison of surface temperature observations from Pakistan Meteorological Department (PMD) network with PRECIS (Providing Regional Climates for Impacts Studies) model simulations...
January 24, 2017: Environmental Science and Pollution Research International
https://www.readbyqxmd.com/read/28101371/a-novel-plp1-mutation-f240l-identified-in-a-patient-with-connatal-type-pelizaeus-merzbacher-disease
#20
Yongping Lu, Keiko Shimojima, Tomoko Sakuma, Sachiko Nakaoka, Toshiyuki Yamamoto
Pelizaeus-Merzbacher disease (PMD) is an X-linked recessive hypomyelination disorder caused by mutations in the proteolipid protein 1 gene (PLP1) located on chromosome Xq22. A male patient showed severe developmental delay, pendular nystagmus and laryngeal wheezing. The auditory brain stem response showed only the first wave and brain magnetic resonance imaging showed white matter hypomyelination, suggesting typical PMD. A novel PLP1 mutation, F240L, which was inherited from his mother, was identified.
2017: Human Genome Variation
keyword
keyword
71108
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"