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https://www.readbyqxmd.com/read/28087245/the-severe-clinical-phenotype-for-a-heterozygous-fabry-female-patient-correlates-to-the-methylation-of-non-mutated-allele-associated-with-chromosome-10q26-deletion-syndrome
#1
Mohammad Arif Hossain, Hiroko Yanagisawa, Takashi Miyajima, Chen Wu, Ayumi Takamura, Keiko Akiyama, Rina Itagaki, Kaoru Eto, Takeo Iwamoto, Takayuki Yokoi, Kenji Kurosawa, Hironao Numabe, Yoshikatsu Eto
Heterozygous Fabry females usually have an attenuated form of Fabry disease, causing them to be symptomatic; however, in rare cases, they can present with a severe phenotype. In this study, we report on a 37-year-old woman with acroparesthesia, a dysmorphic face, left ventricular hypertrophy, and intellectual disability. Her father had Fabry disease and died due to chronic renal and congestive cardiac failure. Her paternal uncle had chronic renal failure and intellectual disability, and her paternal aunt was affected with congestive cardiac failure...
January 7, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28053876/rna-sequencing-of-archived-neonatal-dried-blood-spots
#2
Jonas Bybjerg-Grauholm, Christian Munch Hagen, Sok Kean Khoo, Maria Louise Johannesen, Christine Søholm Hansen, Marie Bækvad-Hansen, Michael Christiansen, David Michael Hougaard, Mads V Hollegaard
Neonatal dried blood spots (DBS) are routinely collected on standard Guthrie cards for all-comprising national newborn screening programs for inborn errors of metabolism, hypothyroidism and other diseases. In Denmark, the Guthrie cards are stored at - 20 °C in the Danish Neonatal Screening Biobank and each sample is linked to elaborate social and medical registries. This provides a unique biospecimen repository to enable large population research at a perinatal level. Here, we demonstrate the feasibility to obtain gene expression data from DBS using next-generation RNA sequencing (RNA-seq)...
March 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28051293/multifunctional-cellulosic-scaffolds-from-modified-cellulose-nanocrystals
#3
Eldho Abraham, David Ernst Weber, Sigal Sharon, Shaul Lapidot, Oded Shoseyov
A biobased cellulosic scaffold material was made through freeze-drying ice-templating of functionalized cellulosic nanomaterials. The resulting interconnected highly porous scaffold was primarily composed of highly esterified, strong network of ultrathin cellulosic layers. The prepared cellulosic scaffold material displayed multifunctional properties of hydrophobicity, oleophilicity and lipophilicity, which could selectively absorb milkfat, hydrophobic proteins, various organic solvents and oils. Diverse potential for the structural and medical applications, such as tissue engineering, drug delivery, oil and fat accumulation are proposed...
January 4, 2017: ACS Applied Materials & Interfaces
https://www.readbyqxmd.com/read/28043603/individualized-treatment-of-multidrug-resistant-tuberculosis-using-therapeutic-drug-monitoring
#4
Mathieu S Bolhuis, Onno W Akkerman, Marieke G G Sturkenboom, Wiel C M de Lange, Tjip S van der Werf, Jan-Willem C Alffenaar
OBJECTIVE/BACKGROUND: Globally, approximately 50% of patients with multidrug-resistant tuberculosis (MDR-TB) experience treatment failure. MDR-TB treatment is hindered by adverse events, toxicity of the second-line anti-TB drugs, logistics and costs, especially in low-income countries, and problems with medication adherence. Pharmacokinetic variability is also attributed as one of the reasons contributing to treatment failure. In our reference Tuberculosis Center Beatrixoord (University Medical Center Groningen, Groningen, The Netherlands), we strive to individualize treatment of all MDR-TB patients based on drug-susceptibility testing using minimal inhibitory concentrations and pharmacokinetic parameters...
December 2016: International Journal of Mycobacteriology
https://www.readbyqxmd.com/read/28029405/distributed-learning-developing-a-predictive-model-based-on-data-from-multiple-hospitals-without-data-leaving-the-hospital-a-real-life-proof-of-concept
#5
Arthur Jochems, Timo M Deist, Johan van Soest, Michael Eble, Paul Bulens, Philippe Coucke, Wim Dries, Philippe Lambin, Andre Dekker
PURPOSE: One of the major hurdles in enabling personalized medicine is obtaining sufficient patient data to feed into predictive models. Combining data originating from multiple hospitals is difficult because of ethical, legal, political, and administrative barriers associated with data sharing. In order to avoid these issues, a distributed learning approach can be used. Distributed learning is defined as learning from data without the data leaving the hospital. PATIENTS AND METHODS: Clinical data from 287 lung cancer patients, treated with curative intent with chemoradiation (CRT) or radiotherapy (RT) alone were collected from and stored in 5 different medical institutes (123 patients at MAASTRO (Netherlands, Dutch), 24 at Jessa (Belgium, Dutch), 34 at Liege (Belgium, Dutch and French), 48 at Aachen (Germany, German) and 58 at Eindhoven (Netherlands, Dutch))...
October 28, 2016: Radiotherapy and Oncology: Journal of the European Society for Therapeutic Radiology and Oncology
https://www.readbyqxmd.com/read/28029227/physicochemical-antioxidant-and-cytotoxic-properties-of-xao-tam-phan-paramignya-trimera-root-extract-and-its-fractions
#6
Nguyen Van Tang, Jennette A Sakoff, Christopher J Scarlett
Xao tam phan (Paramignya trimera (Oliv.) Guillaum) has been used as a medicinal plant for cancer prevention and treatment in recent years. The objective of this study was to determine the physicochemical, antioxidant and cytotoxic properties of crude P. trimera root (PTR) extract and its fractions using methanol as a solvent and microwave-assisted extraction as an advanced technique for preparation of the PTR extract. The results showed that the PTR extract had high contents of saponins, phenolics, flavonoids and proanthocyanidins (7731...
December 28, 2016: Chemistry & Biodiversity
https://www.readbyqxmd.com/read/28018854/cholinergic-depletion-and-basal-forebrain-volume-in-primary-progressive-aphasia
#7
Jolien Schaeverbeke, Charlotte Evenepoel, Rose Bruffaerts, Koen Van Laere, Guy Bormans, Eva Dries, Thomas Tousseyn, Natalie Nelissen, Ronald Peeters, Mathieu Vandenbulcke, Patrick Dupont, Rik Vandenberghe
Primary progressive aphasia (PPA) is a heterogeneous syndrome with various neuropathological causes for which no medical treatment with proven efficacy exists. Basal forebrain (BF) volume loss has been reported in PPA but its relation to cholinergic depletion is still unclear. The primary objective of this study was to investigate whether cholinergic alterations occur in PPA variants and how this relates to BF volume loss. An academic memory clinic based consecutive series of 11 PPA patients (five with the semantic variant (SV), four with the logopenic variant (LV) and two with the nonfluent variant (NFV)) participated in this cross-sectional in vivo PET imaging study together with 10 healthy control subjects...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/27973550/might-art-adherence-estimates-be-improved-by-combining-biomarker-and-self-report-data
#8
Rebecca Rhead, Collen Masimirembwa, Graham Cooke, Albert Takaruza, Constance Nyamukapa, Cosmas Mutsimhi, Simon Gregson
BACKGROUND: As we endeavour to examine rates of viral suppression in PLHIV, reliable data on ART adherence are needed to distinguish between the respective contributions of poor adherence and treatment failure on high viral load. Self-reported data are susceptible to response bias and although biomarker data on drug presence and concentration can provide a superior, alternative method of measurement, complications due to drug-drug interactions and genetic variations can cause some inaccuracies...
2016: PloS One
https://www.readbyqxmd.com/read/27960293/novel-biobased-sodium-shellac-for-wrapping-disperse-multiscale-emulsion-particles
#9
Qingming Luo, Kai Li, Juan Xu, Kun Li, Hua Zheng, Lanxiang Liu, Hong Zhang, Yanlin Sun
As a result of amphipathic oligomers driven by different forces including hydrophobic interaction, electrostatic interaction, H-bond, and heat, multiscale emulsion particles can be wrapped. In this paper we attempted to use sodium shellac as a novel biobased wrapping material. The H(+), Ca(+), and spray-drying methods were employed to solidify the complex vitamin E (VE) emulsion with sodium shellac to fabricate the beads. The VE loading and encapsulation efficiency were used to evaluate the wrapping process...
December 14, 2016: Journal of Agricultural and Food Chemistry
https://www.readbyqxmd.com/read/27931630/infectious-complications-in-gastrointestinal-endoscopy-and-their-prevention
#10
REVIEW
Julia Kovaleva
Gastrointestinal endoscopes are medical devices that have been associated with outbreaks of health care-associated infections. Because of the severity and limited treatment options of infections caused by multidrug-resistant Enterobacteriaceae and Pseudomonas aeruginosa, considerable attention has been paid to detection and prevention of these post-endoscopic outbreaks. Endoscope reprocessing involves cleaning, high-level disinfection/sterilization followed by rinsing and drying before storage. Failure of the decontamination process implies the risk of settlement of biofilm producing species in endoscope channels...
October 2016: Best Practice & Research. Clinical Gastroenterology
https://www.readbyqxmd.com/read/27910804/sudden-cardiac-death-a-nationwide-cohort-study-among-the-young
#11
Bjarke Risgaard
Sudden cardiac death (SCD) is a tragic event affecting millions of individuals worldwide. Although several studies have investigated the epidemiology of SCD, these studies may have been affected by reporting and referral biases, which are reflected in the very different incidence rates and causes of deaths that have previously been reported. Among SCD victims aged < 36 years, inherited cardiac diseases are well known to play an important role. However, the extent to which inherited cardiac diseases also play a role in SCD victims aged < 50 years has not been completely described...
December 2016: Danish Medical Journal
https://www.readbyqxmd.com/read/27852328/a-pilot-program-of-knowledge-translation-and-implementation-for-newborn-resuscitation-using-us-peace-corps-volunteers-in-rural-madagascar
#12
Kristin Close, Michele Karel, Michelle White
BACKGROUND: Prevention of adverse perinatal outcome using the Helping Babies Breathe (HBB) neonatal resuscitation algorithm can reduce perinatal mortality in low income settings. Mercy Ships is a non-governmental organisation providing free healthcare education in sub-Saharan Africa and in an attempt to reach more rural areas of Madagascar with our neonatal resuscitation training we designed a novel approach in collaboration with US Peace Corps Volunteers (PCV). PCVs work in rural areas and contribute to locally determined public health initiatives...
November 16, 2016: Globalization and Health
https://www.readbyqxmd.com/read/27814620/mucopolysaccharidosis-vi-pathophysiology-diagnosis-and-treatment
#13
Paul Harmatz, Renee Shediac
Mucopolysaccharidosis VI (MPS VI), or Maroteaux-Lamy syndrome, is an autosomal recessive lysosomal storage disorder caused by deficient activity of the enzyme arylsulfatase B (ASB). Progressive accumulation of glycosaminoglycans (GAGs) in organs and tissues leads to the development of multisystem clinical manifestations. The presentation of MPS VI is genotypically and phenotypically diverse, with a large number of potential disease-causing mutations and a phenotypic spectrum ranging from very slowly to very rapidly progressing disease...
January 1, 2017: Frontiers in Bioscience (Landmark Edition)
https://www.readbyqxmd.com/read/27786147/anticholinergic-medication-use-is-associated-with-globus-pharyngeus
#14
S Haft, R M Carey, D Farquhar, N Mirza
BACKGROUND: Globus pharyngeus has been linked to salivary hypofunction. We hypothesise that a considerable portion of the globus experienced by patients is due to a drying effect secondary to anticholinergic medication use; this study aimed to determine their association. METHODS: A cross-sectional study was conducted of 270 patients who presented to a laryngology practice over 6 months. Participants rated globus sensation on a 5-point severity scale, with those scoring 0 considered as controls (non-globus)...
December 2016: Journal of Laryngology and Otology
https://www.readbyqxmd.com/read/27774066/rhizoma-coptidis-a-potential-cardiovascular-protective-agent
#15
Hui-Li Tan, Kok-Gan Chan, Priyia Pusparajah, Acharaporn Duangjai, Surasak Saokaew, Tahir Mehmood Khan, Learn-Han Lee, Bey-Hing Goh
Cardiovascular diseases (CVDs) are among the leading causes of morbidity and mortality in both the developed and developing world. Rhizoma coptidis (RC), known as Huang Lian in China, is the dried rhizome of medicinal plants from the family Ranunculaceae, such as Coptis chinensis Franch, C. deltoidea C.Y. Cheng et Hsiao, and C. teeta Wall which has been used by Chinese medicinal physicians for more than 2000 years. In China, RC is a common component in traditional medicines used to treat CVD associated problems including obesity, diabetes mellitus, hyperlipidemia, hyperglycemia and disorders of lipid metabolism...
2016: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/27721966/human-split-thickness-skin-allograft-from-brain-dead-donors
#16
A Khodadadi, O Olang, A Makhllough, B Nozary Heshmati, F Azmoudeh Ardalan, S A Tavakoli
BACKGROUND: Looking for an appropriate skin substitute for temporary and permanent coverage of wounds remains one of the main obstacles of medical researchers. OBJECTIVE: To investigate the rate of inflammation, symbiosis, and survival of grafted allograft skin from brain-dead donors (BDDs) in rabbits. METHODS: After receiving negative serologic tests of BDDs, we prepared partial thickness skin grafts. They were then used in treating wounds of 5 rabbits in comparison with split-thickness skins taken from cardiac dead donors...
2016: International Journal of Organ Transplantation Medicine
https://www.readbyqxmd.com/read/27708179/understanding-and-discrimination-of-biofilms-of-clinically-relevant-microorganisms-using-surface-enhanced-raman-scattering
#17
Seda Keleştemur, Mustafa Çulha
Biofilm formation is a defense mechanism for microorganisms to survive under both natural and stress conditions. Clinically relevant microorganisms threaten patient health through biofilm formation on medical devices and implants. It is very important to identify biofilm formation in order to suppress their pathogenic activities in early stages. With the aim for better understanding biofilm formation and possibility of detection, in this study, biofilm formation of clinically important microorganisms, Pseudomonas aeruginosa, Staphylococcus epidermidis, and Candida albicans are monitored with surface-enhanced Raman scattering (SERS)...
October 5, 2016: Applied Spectroscopy
https://www.readbyqxmd.com/read/27694393/stable-isotope-dilution-hplc-electrospray-ionization-tandem-mass-spectrometry-method-for-quantifying-hydroxyurea-in-dried-blood-samples
#18
Anu Marahatta, Vandana Megaraj, Patrick T McGann, Russell E Ware, Kenneth D R Setchell
BACKGROUND: Sickle cell anemia (SCA) is a life-threatening blood disorder characterized by the presence of sickle-shaped erythrocytes. Hydroxyurea is currently the only US Food and Drug Administration-approved treatment and there is a need for a convenient method to monitor compliance and hydroxyurea concentrations, especially in pediatric SCA patients. METHODS: We describe a novel approach to the determination of hydroxyurea concentrations in dried whole blood collected on DMPK-C cards or volumetric absorptive microsampling (VAMS) devices...
December 2016: Clinical Chemistry
https://www.readbyqxmd.com/read/27671660/mitochondrial-dna-from-the-eradicated-european-plasmodium-vivax-and-p-falciparum-from-70-year-old-slides-from-the-ebro-delta-in-spain
#19
Pere Gelabert, Marcela Sandoval-Velasco, Iñigo Olalde, Rosa Fregel, Adrien Rieux, Raül Escosa, Carles Aranda, Krijn Paaijmans, Ivo Mueller, M Thomas P Gilbert, Carles Lalueza-Fox
Phylogenetic analysis of Plasmodium parasites has indicated that their modern-day distribution is a result of a series of human-mediated dispersals involving transport between Africa, Europe, America, and Asia. A major outstanding question is the phylogenetic affinity of the malaria causing parasites Plasmodium vivax and falciparum in historic southern Europe-where it was endemic until the mid-20th century, after which it was eradicated across the region. Resolving the identity of these parasites will be critical for answering several hypotheses on the malaria dispersal...
October 11, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27649531/mechanistic-insights-into-the-antilithiatic-proteins-from-terminalia-arjuna-a-proteomic-approach-in-urolithiasis
#20
Amisha Mittal, Simran Tandon, Surender Kumar Singla, Chanderdeep Tandon
Kidney stone formation during hyperoxaluric condition is inherently dependent on the interaction between renal epithelial cells and calcium oxalate (CaOx) crystals. Although modern medicine has progressed in terms of removal of these stones, recurrence and persistent side effects restricts their use. Strategies involving plant based agents which could be used as adjunct therapy is an area which needs to be explored. Plant proteins having antilithiatic activity is a hitherto unexplored area and therefore, we conducted a detailed identification and characterization of antilithiatic proteins from Terminalia arjuna (T...
2016: PloS One
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