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https://www.readbyqxmd.com/read/29457916/systematic-review-of-psychiatric-signs-in-niemann-pick-disease-type-c
#1
Olivier Bonnot, Hans-Hermann Klünemann, Christian Velten, Juan Vicente Torres Martin, Mark Walterfang
OBJECTIVES: We conducted the first systematic literature review and analysis of psychiatric manifestations in Niemann-Pick disease type C (NPC) to describe: 1) time of occurrence of psychiatric manifestations relative to other disease manifestations; 2) frequent combinations of psychiatric, neurological and visceral disease manifestations. METHODS: A systematic EMBase literature search was conducted to identify, collate and analyze published data from patients with NPC associated with psychiatric symptoms, published between January 1967 and November 2015...
February 19, 2018: World Journal of Biological Psychiatry
https://www.readbyqxmd.com/read/29457242/bioethics-as-care-work
#2
Joel Michael Reynolds
German philosopher Martin Heidegger argued that humans are defined by care. The term he used, "Sorge," picks out a wide range of caring relations, including sorrow, worry, the making of arrangements, and even fending for another. Since coming to The Hastings Center, I've been struck by the genuine care definitive of its scholars' relationship to their work. Care about newborns, the elderly, and nonhuman animals. Care about doctors, nurses, and health care institutions. Care expressed in the panoply of ways biomedical knowledge and practices inform our havings, doings, and beings in the world...
January 2018: Hastings Center Report
https://www.readbyqxmd.com/read/29453884/daratumumab-resistance-is-frequent-in-advanced-stage-multiple-myeloma-patients-irrespectively-of-cd38-expression-and-is-related-to-dismal-prognosis
#3
M Pick, V Vainstein, N Goldschmidt, D Lavie, D Libster, A Gural, S Grisariu, B Avni, D Ben Yehuda, M E Gatt
OBJECTIVE: Daratumumab is a promising new anti-myeloma agent. We report a single center "real world" series of multiple myeloma (MM) and amyloidosis (AL) patients treated with daratumumab. METHODS: Forty-one patients were included: 7 second line MM, 30 heavily pretreated (median number of therapies of 5) advanced MM, and 4 with AL. RESULTS: Second line patients and advanced AL showed high rate of durable overall responses. However, advanced MM patients had a dismal prognosis with an ORR of 36%, and a short median progression free and overall survival of 2...
February 17, 2018: European Journal of Haematology
https://www.readbyqxmd.com/read/29453517/probable-diagnosis-of-a-patient-with-niemann-pick-disease-type-c-managing-pitfalls-of-exome-sequencing
#4
William A Zeiger, Nasheed I Jamal, Maren T Scheuner, Patricia Pittman, Kimiyo M Raymond, Massimo Morra, Shri K Mishra
Here, we present a case of a 31-year-old man with progressive cognitive decline, ataxia, and dystonia. Extensive laboratory, radiographic, and targeted genetic studies over the course of several years failed to yield a diagnosis. Initial whole exome sequencing through a commercial laboratory identified several variants of uncertain significance; however, follow-up clinical examination and testing ruled each of these out. Eventually, repeat whole exome sequencing identified a known pathogenic intronic variant in the NPC1 gene (NM_000271...
February 17, 2018: JIMD Reports
https://www.readbyqxmd.com/read/29453244/white-matter-change-with-apathy-and-impulsivity-in-frontotemporal-lobar-degeneration-syndromes
#5
Claire J Lansdall, Ian T S Coyle-Gilchrist, P Simon Jones, Patricia Vázquez Rodríguez, Alicia Wilcox, Eileen Wehmann, Katrina M Dick, Trevor W Robbins, James B Rowe
OBJECTIVE: To identify the white matter correlates of apathy and impulsivity in the major syndromes associated with frontotemporal lobar degeneration, using diffusion-weighted imaging and data from the PiPPIN (Pick's Disease and Progressive Supranuclear Palsy: Prevalence and Incidence) study. We included behavioral and language variants of frontotemporal dementia, corticobasal syndrome, and progressive supranuclear palsy. METHODS: Seventy patients and 30 controls underwent diffusion tensor imaging at 3-tesla after detailed assessment of apathy and impulsivity...
February 16, 2018: Neurology
https://www.readbyqxmd.com/read/29447902/the-erythrocyte-osmotic-resistance-test-as-screening-tool-for-cholesterol-related-lysosomal-storage-diseases
#6
Laura López de Frutos, Jorge J Cebolla, Pilar Irún, Ralf Köhler, Pilar Giraldo
BACKGROUND: Erythrocyte volume regulation and membrane elasticity are essential for adaptation to osmotic and mechanical stress, and life span. Here, we evaluated whether defective cholesterol trafficking caused by the rare lysosomal storages diseases (LSDs), Niemann-Pick type C (NPC) and Lysosomal acid lipase (LAL) deficiency (LALD) impairs these properties. Moreover, we tested whether measurements of cholesterol membrane content and osmotic resistance serve as a screening test for these LSDs...
February 12, 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/29445937/secondary-hemophagocytic-syndrome-associated-with-cog6-gene-defect-report-and-review
#7
Nouf Althonaian, Abdulrahman Alsultan, Eva Morava, Majid Alfadhel
Hemophagocytic lymphohistiocytosis (HLH) is a rare but potentially fatal disease that is characterized by proliferation and infiltration of hyperactivated macrophages and T-lymphocytes. Clinically, it is characterized by prolonged fever, hepatosplenomegaly, hypertriglyceridemia, hypofibrinogenemia, pancytopenia, and hemophagocytosis in the bone marrow, spleen, or lymph nodes. It can be classified as primary if it is due to a genetic defect, or secondary if it is due to a different etiology such as severe infection, immune deficiency syndrome, rheumatological disorder, malignancy, and inborn errors of metabolism such as galactosemia, multiple sulfatase deficiency, lysinuric protein intolerance, Gaucher disease, Niemann-Pick disease, Wolman disease, propionic acidemia, methylmalonic acidemia, biotinidase deficiency, cobalamin C defect, galactosialidosis, Pearson syndrome, and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency...
February 15, 2018: JIMD Reports
https://www.readbyqxmd.com/read/29445222/water-droplet-dynamics-on-a-hydrophobic-surface-in-relation-to-the-self-cleaning-of-environmental-dust
#8
Bekir Sami Yilbas, Ghassan Hassan, Abdullah Al-Sharafi, Haider Ali, Nasser Al-Aqeeli, Abdelsalam Al-Sarkhi
The dynamic motion of a water droplet on an inclined hydrophobic surface is analyzed with and without environmental dust particles on the surface. Solution crystallization of a polycarbonate surface is carried out to generate a hydrophobic surface with hierarchical texture composed of micro/nanosize spheroids and fibrils. Functionalized nanosize silica particles are deposited on the textured surface to reduce contact angle hysteresis. Environmental dust particles are collected and characterized using analytical tools prior to the experiments...
February 14, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29442609/caveat-emptor-folate-in-unipolar-depressive-illness-a-systematic-review-and-meta-analysis
#9
Emmert Roberts, Ben Carter, Allan H Young
BACKGROUND: International guideline recommendations for the use of folate and its derivatives in the treatment of unipolar depressive disorders are confused and contradictory, perhaps reflecting wide variations in the underpinning evidence base. INTRODUCTION: We discuss differing methods of evidence synthesis in the formulation of international guideline recommendations. As an example we evaluated the efficacy of folate and its derivatives in unipolar depression via systematic review and meta-analysis...
February 1, 2018: Journal of Psychopharmacology
https://www.readbyqxmd.com/read/29442431/elution-extrusion-counter-current-chromatography-separation-of-six-pairs-of-isomeric-iridoids-from-cornus-officinalis-sieb-et-zucc-guided-by-ion-current-extraction-in-mass-spectrometry
#10
Jinru Liang, Wenji Sun
A mass spectrometry guided elution-extrusion counter-current chromatography protocol was developed to separate chemical components from Cornus officinalis Sieb. et Zucc. Ion current extraction, a mass spectrometry based data post-acquisition method, was utilized to boost the separation power and scope of counter-current chromatography technique in this study. As a peak re-picking and denoising tool, ion current extraction was carried out to process the liquid chromatography with mass spectrometry and the counter-current chromatography with mass spectrometry data...
February 14, 2018: Journal of Separation Science
https://www.readbyqxmd.com/read/29442256/plasma-micrornas-levels-are-different-between-pulmonary-and-extrapulmonary-ards-patients-a-clinical-observational-study
#11
Yi Zheng, Song-Qiao Liu, Qin Sun, Jian-Feng Xie, Jing-Yuan Xu, Qing Li, Chun Pan, Ling Liu, Ying-Zi Huang
BACKGROUND: Mesenchymal stem cells (MSC) obviously alleviate the damage of the structure and function of pulmonary vascular endothelial cells (VEC). The therapeutic effects of MSC are significantly different between pulmonary ARDS (ARDSp) and extrapulmonary ARDS (ARDSexp). MicroRNAs (miRNAs), as important media of MSC regulating VEC, are not studied between ARDSp and ARDSexp. We aimed to explore the plasma levels difference of miRNAs that regulate VEC function and are associated with MSC (MSC-VEC-miRNAs) between ARDSp and ARDSexp patients...
February 13, 2018: Annals of Intensive Care
https://www.readbyqxmd.com/read/29440048/margaret-mccartney-the-nhs-shouldn-t-have-to-pick-up-the-bill-for-private-screening-tests
#12
Margaret McCartney
No abstract text is available yet for this article.
February 13, 2018: BMJ: British Medical Journal
https://www.readbyqxmd.com/read/29439954/fine-tuning-of-foxo3a-in-chl-as-a-survival-mechanism-and-a-hallmark-of-abortive-plasma-cell-differentiation
#13
Clarissa D Osswald, Linka Xie, Hanfeng Guan, Franziska Herrmann, Sarah M Pick, Marion J Vogel, Franziska Gehringer, Fong Chun Chan, Christian Steidl, Thomas Wirth, Alexey Ushmorov
We recently found that FOXO1 repression contributes to the oncogenic program of classical Hodgkin lymphoma (cHL). Interestingly, FOXO3A, another member of the FOXO family, was reported to be expressed in the malignant Hodgkin-Reed Sternberg (HRS) cells of cHL at higher levels than in Non-Hodgkin lymphoma (NHL) subtypes. We thus aimed to investigate mechanisms responsible for the maintenance of FOXO3A as well as the potential role of FOXO3A in cHL. Here we show that high FOXO3A levels in cHL reflect a B-cell-differentiation specific pattern...
February 13, 2018: Blood
https://www.readbyqxmd.com/read/29436598/madecassoside-activates-anti%C3%A2-neuroinflammatory-mechanisms-by-inhibiting-lipopolysaccharide%C3%A2-induced-microglial-inflammation
#14
Andrew Octavian Sasmita, Anna Pick Kiong Ling, Kenny Gah Leong Voon, Rhun Yian Koh, Ying Pei Wong
Neurodegeneration is typically preceded by neuroinflammation generated by the nervous system to protect itself from tissue damage, however, excess neuroinflammation may inadvertently cause more harm to the surrounding tissues. Attenuating neuroinflammation with non‑steroidal anti‑inflammatory drugs can inhibit neurodegeneration. However, such treatments induce chronic side effects, including stomach ulcers. Madecassoside, a triterpene derived from Centella asiatica, is considered to be an alternative treatment of inflammation...
February 9, 2018: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/29436398/gun-retailers-as-storage-partners-for-suicide-prevention-what-barriers-need-to-be-overcome
#15
Lauren A Pierpoint, Gregory J Tung, Ashley Brooks-Russell, Sara Brandspigel, Marian Betz, Carol W Runyan
INTRODUCTION: Safe storage of guns outside the household while someone is at risk for suicide is important for suicide prevention. Some gun retailers offer temporary firearm storage as a community resource. Others may be willing if perceived barriers can be addressed. METHODS: We invited all gun retailers in eight Mountain West states to respond to a questionnaire about the barriers they perceive in offering temporary, voluntary gun storage for community members...
February 7, 2018: Injury Prevention: Journal of the International Society for Child and Adolescent Injury Prevention
https://www.readbyqxmd.com/read/29435749/skills-in-minimally-invasive-and-open-surgery-show-limited-transferability-to-robotic-surgery-results-from-a-prospective-study
#16
Karl-Friedrich Kowalewski, Mona W Schmidt, Tanja Proctor, Moritz Pohl, Erica Wennberg, Emir Karadza, Philipp Romero, Hannes G Kenngott, Beat P Müller-Stich, Felix Nickel
BACKGROUND: There is limited evidence on the transferability of conventional laparoscopic and open surgical skills to robotic-assisted surgery. The primary aim of this study was to evaluate the transferability of expertise in conventional laparoscopy and open surgery to robotic-assisted surgery using the da Vinci Skills Simulator (dVSS). Secondary aims included evaluating the influence of individual participants' characteristics. METHODS: Participants performed four tasks on the dVSS: Peg Board 1 (PB), Pick and Place (PP), Thread the Rings (TR), and Suture Sponge 1 (SS)...
February 12, 2018: Surgical Endoscopy
https://www.readbyqxmd.com/read/29432455/vector-borne-disease-risk-indexes-in-spatially-structured-populations
#17
Jorge Velázquez-Castro, Andrés Anzo-Hernández, Beatriz Bonilla-Capilla, Moisés Soto-Bajo, Andrés Fraguela-Collar
There are economic and physical limitations when applying prevention and control strategies for urban vector borne diseases. Consequently, there are increasing concerns and interest in designing efficient strategies and regulations that health agencies can follow in order to reduce the imminent impact of viruses like Dengue, Zika and Chikungunya. That includes fumigation, abatization, reducing the hatcheries, picking up trash, information campaigns. A basic question that arise when designing control strategies is about which and where these ones should focus...
February 12, 2018: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/29432114/synergistic-elbow-control-for-a-myoelectric-transhumeral-prosthesis
#18
Nasser A Alshammary, Daniel A Bennett, Michael Goldfarb
This paper presents a control approach for a myoelectric transhumeral prostheses that supplements a typical two-site electromyograms (EMG) input with the inertial measurement of arm motion. The inertial measurement is employed to: 1) provide synergistic movement between the prosthetic elbow joint and intact upper arm and 2) to switch control between the myoelectric elbow and hand. In order to assess the prospective efficacy of the control method, experiments were conducted on six healthy subjects who performed a series of pick-and-place tasks within a virtual environment...
February 2018: IEEE Transactions on Neural Systems and Rehabilitation Engineering
https://www.readbyqxmd.com/read/29431164/recommendations-for-the-detection-and-diagnosis-of-niemann-pick-disease-type-c-an-update
#19
REVIEW
Marc C Patterson, Peter Clayton, Paul Gissen, Mathieu Anheim, Peter Bauer, Olivier Bonnot, Andrea Dardis, Carlo Dionisi-Vici, Hans-Hermann Klünemann, Philippe Latour, Charles M Lourenço, Daniel S Ory, Alasdair Parker, Miguel Pocoví, Michael Strupp, Marie T Vanier, Mark Walterfang, Thorsten Marquardt
Purpose of review: Niemann-Pick disease type C (NP-C) is a neurovisceral disorder that may be more prevalent than earlier estimates. Diagnosis of NP-C is often delayed; a key aim for clinical practice is to reduce this delay. Recently, substantial progress has been made in the field of NP-C screening and diagnosis, justifying an update to the existing recommendations for clinical practice. Recent findings: New biomarker profiling and genetic analysis technologies are included as first-line diagnostic tests for NP-C...
December 2017: Neurology. Clinical Practice
https://www.readbyqxmd.com/read/29431050/tdp-43-post-translational-modifications-in-health-and-disease
#20
Emanuele Buratti
Nuclear factor TDP-43 is a ubiquitously expressed RNA binding protein that plays a key causative role in several neurodegenerative diseases, especially in the ALS/FTD spectrum. In addition, its aberrant aggregation and expression has been recently observed in other type of diseases, such as myopathies and Niemann-Pick C, a lysosomal storage disease. Areas Covered. This review aims to specifically cover the post-translational modifications (PTMs) that can affect TDP-43 function and cellular status both in health and disease...
February 10, 2018: Expert Opinion on Therapeutic Targets
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