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https://www.readbyqxmd.com/read/28549128/atad3-gene-cluster-deletions-cause-cerebellar-dysfunction-associated-with-altered-mitochondrial-dna-and-cholesterol-metabolism
#1
Radha Desai, Ann E Frazier, Romina Durigon, Harshil Patel, Aleck W Jones, Ilaria Dalla Rosa, Nicole J Lake, Alison G Compton, Hayley S Mountford, Elena J Tucker, Alice L R Mitchell, Deborah Jackson, Abdul Sesay, Miriam Di Re, Lambert P van den Heuvel, Derek Burke, David Francis, Sebastian Lunke, George McGillivray, Simone Mandelstam, Fanny Mochel, Boris Keren, Claude Jardel, Anne M Turner, P Ian Andrews, Jan Smeitink, Johannes N Spelbrink, Simon J Heales, Masakazu Kohda, Akira Ohtake, Kei Murayama, Yasushi Okazaki, Anne Lombès, Ian J Holt, David R Thorburn, Antonella Spinazzola
Although mitochondrial disorders are clinically heterogeneous, they frequently involve the central nervous system and are among the most common neurogenetic disorders. Identifying the causal genes has benefited enormously from advances in high-throughput sequencing technologies; however, once the defect is known, researchers face the challenge of deciphering the underlying disease mechanism. Here we characterize large biallelic deletions in the region encoding the ATAD3C, ATAD3B and ATAD3A genes. Although high homology complicates genomic analysis of the ATAD3 defects, they can be identified by targeted analysis of standard single nucleotide polymorphism array and whole exome sequencing data...
June 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28545260/thermostabilization-of-the-uronate-dehydrogenase-from-agrobacterium-tumefaciens-by-semi-rational-design
#2
Teresa Roth, Barbara Beer, André Pick, Volker Sieber
Aldaric acids represent biobased 'top value-added chemicals' that have the potential to substitute petroleum-derived chemicals. Until today they are mostly produced from corresponding aldoses using strong chemical oxidizing agents. An environmentally friendly and more selective process could be achieved by using natural resources such as seaweed or pectin as raw material. These contain large amounts of uronic acids as major constituents such as glucuronic acid and galacturonic acid which can be converted into the corresponding aldaric acids via an enzyme-based oxidation using uronate dehydrogenase (Udh)...
December 2017: AMB Express
https://www.readbyqxmd.com/read/28545008/psychiatric-disorders-in-a-cohort-of-individuals-with-prader-willi-syndrome
#3
L Shriki-Tal, H Avrahamy, Y Pollak, V Gross-Tsur, L Genstil, H J Hirsch, F Benarroch
BACKGROUND: Psychiatric manifestations in Prader-Willi Syndrome (PWS) are common and often are the most debilitating problem in these individuals. We present an epidemiological nation-wide survey of psychiatric diagnoses in the PWS population, based on full-range psychiatric interviews. METHODS: We studied the distribution of psychiatric diagnoses (as opposed to a symptom-based approach) in the Israel national cohort of adolescents and adults with PWS. There was a total of 53 (32 males) ages 12 years and older...
April 5, 2017: European Psychiatry: the Journal of the Association of European Psychiatrists
https://www.readbyqxmd.com/read/28544951/clinical-balance-scales-indicate-worse-postural-control-in-people-with-parkinson-s-disease-who-exhibit-freezing-of-gait-compared-to-those-who-do-not-a-meta-analysis
#4
REVIEW
Esther M J Bekkers, Bauke W Dijkstra, Kim Dockx, Elke Heremans, Sabine M P Verschueren, Alice Nieuwboer
Postural instability and freezing of gait (FOG) are key features of Parkinson's disease (PD) that are closely related to falls. Uncovering the postural control differences between individuals with and without FOG contributes to our understanding of the relationship between these phenomena. The objective of this meta-analysis was to investigate whether postural control deficits, as detected by clinical balance scales, were more apparent in FOG+ compared to FOG-. Furthermore, we aimed to identify whether different scales were equally sensitive to detect postural control deficits and whether medication affected postural control differentially in each subgroup...
May 11, 2017: Gait & Posture
https://www.readbyqxmd.com/read/28544363/expression-patterns-of-sterol-transporters-npc1-and-npc2-in-the-cnidarian-dinoflagellate-symbiosis
#5
Vincent Dani, Fabrice Priouzeau, Marjolijn Mertz, Magali Mondin, Sophie Pagnotta, Sandra Lacas-Gervais, Simon K Davy, Cécile Sabourault
The symbiotic interaction between cnidarians (e.g. corals and sea anemones) and photosynthetic dinoflagellates of the genus Symbiodinium is triggered by both host-symbiont recognition processes and metabolic exchange between the two partners. The molecular communication is crucial for homeostatic regulation of the symbiosis, both under normal conditions and during stresses that further lead to symbiosis collapse. It is therefore important to identify and fully characterize the key players of this intimate interaction at the symbiotic interface...
May 22, 2017: Cellular Microbiology
https://www.readbyqxmd.com/read/28542405/exchange-of-polar-lipids-from-adults-to-neonates-in-daphnia-magna-perturbations-in-sphingomyelin-allocation-by-dietary-lipids-and-environmental-toxicants
#6
Namrata Sengupta, Delaney C Reardon, Patrick D Gerard, William S Baldwin
Because xenosensing nuclear receptors are also lipid sensors that regulate lipid allocation, we hypothesized that toxicant-induced modulation of HR96 activity would alter lipid profiles and the balance between adult survival and neonate production following exposure in Daphnia magna. Adult daphnids were exposed to unsaturated fatty acid- and toxicant- activators or inhibitors of HR96 and later starved to test whether chemical exposure altered allocation toward survival or reproduction. The HR96 activators, linoleic acid and atrazine, decreased reproduction as expected with concomitant changes in the expression of HR96 regulated genes such as magro...
2017: PloS One
https://www.readbyqxmd.com/read/28542381/quantitative-magnetic-resonance-imaging-of-brain-atrophy-in-a-mouse-model-of-niemann-pick-type-c-disease
#7
John W Totenhagen, Adam Bernstein, Eriko S Yoshimaru, Robert P Erickson, Theodore P Trouard
In vivo magnetic resonance imaging (MRI) was used to investigate regional and global brain atrophy in the neurodegenerative Niemann Pick Type C1 (NPC1) disease mouse model. Imaging experiments were conducted with the most commonly studied mouse model of NPC1 disease at early and late disease states. High-resolution in vivo images were acquired at early and late stages of the disease and analyzed with atlas-based registration to obtain measurements of twenty brain region volumes. A two-way ANOVA analysis indicated eighteen of these regions were different due to genotype and thirteen showed a significant interaction with age and genotype...
2017: PloS One
https://www.readbyqxmd.com/read/28542374/targeted-box-and-blocks-test-normative-data-and-comparison-to-standard-tests
#8
Kimberly Kontson, Ian Marcus, Barbara Myklebust, Eugene Civillico
BACKGROUND: The Box and Block Test (BBT) is a functional outcome measure that is commonly used across multiple clinical populations due to its benefits of ease and speed of implementation; reliable, objective measurement; and repetition of motion. In this study, we introduce a novel outcome measure called the targeted BBT that allows for the study of initiation, grasping, and transport of objects, and also of object release. These modifications to the existing test may increase the ecological validity of the measure while still retaining the previously stated benefits of the standard BBT...
2017: PloS One
https://www.readbyqxmd.com/read/28541853/treatment-options-for-pilonidal-disease
#9
Denis Ehrl, Cornelia Choplain, Paul Heidekrueger, Holger C Erne, Horst-Guenter Rau, P Niclas Broer
Pilonidal disease can be treated medically; however, surgical excision remains the gold standard. Nonetheless, all current surgical approaches are still associated with potential for tissue loss, wound healing disorders, and high rates of recurrence. Aim of this study is to assess the long-term outcomes of the minimal-invasive pit-picking operation in comparison to the well-established technique of Karydakis flap-closure. Medical records of all patients undergoing either Karydakis flap-closure or the pit-picking operation for pilonidal disease at our department were reviewed retrospectively...
May 1, 2017: American Surgeon
https://www.readbyqxmd.com/read/28540223/asian-herbals-and-aphrodisiacs-used-for-managing-ed
#10
REVIEW
Peter H C Lim
In the East, many herbal tonics and preparations are used to assist the aging male improve his sexual drive or ability to perform penetrative sex by increasing sexual stimulation, erectile, ejaculatory, orgasmic and other responses for sexual function and satisfaction. The herbs and tonics act as or as "pick-me-ups" and energizing tonics which help the tired and fatigued male and those with sexual asthenia. The myths and realities concerning Tongkat Ali, sea horse, cobra meat and blood, animal penises and testicles amongst many other herbs and portions for oral intake or local application used by traditional "medical" practitioners and village doctors will be discussed...
April 2017: Translational Andrology and Urology
https://www.readbyqxmd.com/read/28539141/individual-traits-personal-values-and-conflict-resolution-in-an-isolated-confined-extreme-environment
#11
Jesper G Corneliussen, Gloria R Leon, Anders Kjærgaard, Birgit A Fink, Noah C Venables
BACKGROUND: The study of personality traits, personal values, and the emergence of conflicts within groups performing in an isolated, confined, and extreme environment (ICE) may provide insights helpful for the composition and support of space crews for long duration missions. METHODS: Studied pre/post and over the 2-yr period of the investigation were 10 Danish military personnel deployed to stations in Greenland on a 26-mo staggered rotation. Subjects completed the NEO PI-R, Triarchic Psychopathy Measure, and Portrait Values Questionnaire, and participated in structured interviews...
June 1, 2017: Aerospace Medicine and Human Performance
https://www.readbyqxmd.com/read/28536900/hopes-for-the-future-of-pain-control
#12
REVIEW
Kirsty Bannister, Mateusz Kucharczyk, Anthony H Dickenson
Here we aim to present an accessible review of the pharmacological targets for pain management, and succinctly discuss the newest trends in pain therapy. A key task for current pain pharmacotherapy is the identification of receptors and channels orchestrating nociception. Notwithstanding peripheral alterations in the receptors and channels following pathophysiological events, the modulatory mechanisms in the central nervous system are also fundamental to the regulation of pain perception. Bridging preclinical and clinical studies of peripheral and central components of pain modulation, we present the different types of pain and relate these to pharmacological interventions...
May 23, 2017: Pain and Therapy
https://www.readbyqxmd.com/read/28535917/sensitivity-evaluation-of-two-commercial-dosimeters-in-detecting-helical-tomotherapy-treatment-delivery-errors
#13
Shrikant Deshpande, Mark Geurts, Philip Vial, Peter Metcalfe, Lois Holloway
PURPOSE: To assess the sensitivity of two commercial dosimetry systems in detecting Helical TomoTherapy (HT) delivery errors. METHOD: Two commercial dosimeters i) MatriXX(Evolution) and ii) ArcCHECK® were considered. Ten retrospective nasopharynx HT patients were analysed. For each patient, error plans were created by independently introducing systematic offsets in: a) Jaw width error ±1, ±1.5 and ±2mm, b) Couch speed error ±2%, ±2.5, ±3% and ±4%, and c) MLC Leaf Open Time (MLCLOT) errors (3 separate MLC errors: either leaf 32 open or leaf 42 remains open during delivery, and 4% random reductions in MLCLOT)...
May 2017: Physica Medica: PM
https://www.readbyqxmd.com/read/28535570/a-novel-combination-of-percutaneous-endoscopic-lumbar-discectomy-and-epiduroscopic-laser-neural-decompression-for-down-migrated-disc-herniation
#14
Kyung-Chul Choi, Dong Chan Lee, Choon-Keun Park
Although percutaneous endoscopic lumbar discectomy (PELD) is an effective treatment for herniated discs, its application in a disc with extensive migration is still challenging. As such, epiduroscopic laser neural decompression (ELND) provides a new view of the epidural space as well as an alternative treatment for a herniated disc and epidural fibrosis. In this paper the authors introduce the novel combination of PELD and ELND for high grade down-migrated disc herniation.An 87-year old woman presented with severe pain radiating down her leg due to high grade down-migrated disc herniation at L4-5...
May 2017: Pain Physician
https://www.readbyqxmd.com/read/28535501/is-the-morning-sputum-sample-superior-to-the-fresh-sputum-sample-for-the-detection-of-malignant-cells
#15
Maya S Uke, Saleem Pathuthara, Abida Shaikh, Rajiv Kumar, Shubhada Kane
INTRODUCTION: Sputum cytology is a well-established technique for the detection of lung malignancies. Generally, random or morning samples are used. OBJECTIVES: To evaluate the diagnostic yield of morning sputum and compare it with that of fresh samples. MATERIALS AND METHODS: Patients were instructed to bring a morning sputum sample to the laboratory in a clean plastic container, without any fixative and within 2-3 h of collection. Fresh sputum was then collected in the laboratory from these same patients...
May 24, 2017: Acta Cytologica
https://www.readbyqxmd.com/read/28535325/pulse-voices-from-the-heart-of-medicine-editor-s-picks-a-third-anthology
#16
Kenneth W Lin
No abstract text is available yet for this article.
May 2017: Family Medicine
https://www.readbyqxmd.com/read/28534774/a-fast-ellipse-detector-using-projective-invariant-pruning
#17
Qi Jia, Xin Fan, Zhongxuan Luo, Lianbo Song, Tie Qiu
Detecting elliptical objects from an image is a central task in robot navigation and industrial diagnosis where the detection time is always a critical issue. Existing methods are hardly applicable to these real-time scenarios of limited hardware resource due to the huge number of fragment candidates (edges or arcs) for fitting ellipse equations. In this paper, we present a fast algorithm detecting ellipses with high accuracy. The algorithm leverages a newly developed projective invariant to significantly prune the undesired candidates and to pick out elliptical ones...
May 16, 2017: IEEE Transactions on Image Processing: a Publication of the IEEE Signal Processing Society
https://www.readbyqxmd.com/read/28533655/-18-f-fdg-pet-ct-in-localizing-additional-cns-lesion-in-a-case-of-langerhans-cell-histiocytosis-determining-accurate-extent-of-the-disease
#18
Shamim Ahmed Shamim, Sarthak Tripathy, Anirban Mukherjee, Chandrasekhar Bal, Madhavi Tripathi
Central nervous system involvement is a rare manifestation of Langerhans cell histiocytosis (LCH), with bone and skin lesions being more frequent. MR remains the investigation of choice for localizing brain lesions. However, due to poor sensitivity of MRI in detecting osseous and pulmonary lesions, it is not used routinely in staging purposes until and unless indicated. We hereby discuss a case of 6-year-old boy of LCH who was referred for 18-F-FDG PET/CT for staging and knowing the extent of the disease, but a lesion in hypothalamus was picked up incidentally on FDG PET-CT study that was confirmed by MRI...
April 2017: Indian Journal of Nuclear Medicine: IJNM: the Official Journal of the Society of Nuclear Medicine, India
https://www.readbyqxmd.com/read/28532877/task-based-mirror-therapy-enhances-ipsilesional-motor-functions-in-stroke-a-pilot-study
#19
Kamal Narayan Arya, Shanta Pandian, Dharmendra Kumar
OBJECTIVE: To examine the effect of Mirror therapy (MT) on dexterity, coordination, and muscle strength of the less-affected upper limb in stroke. DESIGN: Pre-test post-test, single group, experimental design. SETTING: Rehabilitation institute. PARTICIPANTS: Post-stroke hemiparetic chronic subjects (N = 21). INTERVENTIONS: Forty sessions of MT using various tasks in addition to the conventional rehabilitation...
April 2017: Journal of Bodywork and Movement Therapies
https://www.readbyqxmd.com/read/28529827/deviant-lysosomal-ca-2-signalling-in-neurodegeneration-an-introduction
#20
Sandip Patel
Lysosomes are key acidic Ca(2+) stores. The principle Ca(2+)-permeable channels of the lysosome are TRP mucolipins (TRPMLs) and NAADP-regulated two-pore channels (TPCs). Recent studies, reviewed in this collection, have linked numerous neurodegenerative diseases to both gain and loss of function of TRPMLs/TPCs, as well as to defects in acidic Ca(2+) store content. These diseases span rare lysosomal storage disorders such as Mucolipidosis Type IV and Niemann-Pick disease, type C, through to more common ones such as Alzheimer and Parkinson disease...
June 1, 2016: Messenger
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