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https://www.readbyqxmd.com/read/29053735/characterization-of-the-first-knock-out-aldh7a1-zebrafish-model-for-pyridoxine-dependent-epilepsy-using-crispr-cas9-technology
#1
Nikita Zabinyakov, Garrett Bullivant, Feng Cao, Matilde Fernandez Ojeda, Zheng Ping Jia, Xiao-Yan Wen, James J Dowling, Gajja S Salomons, Saadet Mercimek-Andrews
Pyridoxine dependent epilepsy (PDE) is caused by likely pathogenic variants in ALDH7A1 (PDE-ALDH7A1) and inherited autosomal recessively. Neurotoxic alpha-amino adipic semialdehyde (alpha-AASA), piperideine 6-carboxylate and pipecolic acid accumulate in body fluids. Neonatal or infantile onset seizures refractory to anti-epileptic medications are clinical features. Treatment with pyridoxine, arginine and lysine-restricted diet does not normalize neurodevelopmental outcome or accumulation of neurotoxic metabolites...
2017: PloS One
https://www.readbyqxmd.com/read/29049686/national-practice-variation-in-pneumonectomy-perioperative-care-among-canadian-thoracic-surgeons
#2
Biniam Kidane, John K Peel, Andrew Seely, Richard A Malthaner, Christian Finley, Sean Grondin, Brian E Louie, Sadeesh Srinathan, Gail E Darling
OBJECTIVES: Our objective was to assess perioperative pneumonectomy practices among Canadian thoracic surgeons as part of a quality-improvement initiative to determine practice variability and identify areas for study/improvement. METHODS: After several rounds of survey development and piloting, a 29-item survey was distributed using the Dillman method to all practicing members of the Canadian Association of Thoracic Surgeons. RESULTS: The response rate was 87% (62 of 71)...
July 28, 2017: Interactive Cardiovascular and Thoracic Surgery
https://www.readbyqxmd.com/read/29043100/expression-of-glucose-transporters-in-the-developing-rat-skin
#3
Chang Seok Oh, Jong Ha Hong, Shun Nu Jin, Wang Jae Lee, Young Soo Lee, Eunju Lee
We found the changed distribution of glucose transporter (GLUT) proteins in the skin during rat development. At 15 days of gestation, GLUT1 and 2 proteins were expressed in the stratum corneum of epidermal cells. In postnatal skin, however, GLUT1 and 2 exhibit different expression patterns. While GLUT1 expression becomes more restricted to the stratum basale with development, GLUT2 was found mainly in stratum spinosum and granulosum, but not being localized in the stratum basale at any stages of perinatal skin development...
September 2017: Anatomy & Cell Biology
https://www.readbyqxmd.com/read/29042904/central-diabetes-insipidus-linked-to-rathke-s-cleft-cyst-polyuria-in-a-17-year-old-girl
#4
Ha Yeon Kim, Seung Jin Lee, Eun Hui Bae, Seong Kwon Ma, Soo Wan Kim
A 17-year-old girl presented with polyuria (7 L/day) and polydipsia for one year. Initial urine osmolality was 113mOsm/kg H2O. Following 6 h of fluid restriction, serum plasma osmolality reached 300mOsm/kg H2O, whereas urine osmolality was 108mOsm/kg H2O. Urine osmolality was increased by 427% from 108 to 557mOsm/kg after vasopressin challenge. The patient was diagnosed with central diabetes insipidus, possibly derived from the atypical occupation of a Rathke's cleft cyst at the pituitary stalk following magnetic resonance imaging with enhancement...
September 2017: Electrolyte & Blood Pressure: E & BP
https://www.readbyqxmd.com/read/29024333/united-we-stand-divided-we-conquer-pilot-study-of-multidisciplinary-general-medicine-heart-failure-care-program
#5
Omar Wahbi Izzettin, Ingrid Hopper, Edward Ritchie, Vathy Nagalingam, Ar Kar Aung
BACKGROUND: Heart failure care and education require a multifaceted approach to ensure appropriate transition from inpatient to outpatient care. AIMS: To explore the feasibility of a multidisciplinary heart failure care model, General Medicine Heart Failure Care Program (GM-HFCP) within a General Medical Unit (GMU). METHODS: Prospective non-randomised before-and-after observational quality improvement intervention over a 6-month period. All consecutive patients admitted to GMU at Alfred Hospital with diagnosis of acute decompensated heart failure were included...
October 11, 2017: Internal Medicine Journal
https://www.readbyqxmd.com/read/29023316/septic-shock-resuscitation-in-the-first-hour
#6
Nicholas Simpson, Francois Lamontagne, Manu Shankar-Hari
PURPOSE OF REVIEW: We reviewed the recent advances in the initial approach to resuscitation of sepsis and septic shock patients. RECENT FINDINGS: Sepsis and septic shock are life-threatening emergencies. Two key interventions in the first hour include timely antibiotic therapy and resuscitation. Before any laboratory results, the need for resuscitation is considered if a patient with suspected infection has low blood pressure (BP) or impaired peripheral circulation found at clinical examination...
October 11, 2017: Current Opinion in Critical Care
https://www.readbyqxmd.com/read/29021781/cross-talk-between-adipose-tissue-and-placenta-in-obese-and-gestational-diabetes-mellitus-pregnancies-via-exosomes
#7
REVIEW
Nanthini Jayabalan, Soumyalekshmi Nair, Zarin Nuzhat, Gregory E Rice, Felipe A Zuñiga, Luis Sobrevia, Andrea Leiva, Carlos Sanhueza, Jaime Agustín Gutiérrez, Martha Lappas, Dilys Jane Freeman, Carlos Salomon
Obesity is an important public health issue worldwide, where it is commonly associated with the development of metabolic disorders, especially insulin resistance (IR). Maternal obesity is associated with an increased risk of pregnancy complications, especially gestational diabetes mellitus (GDM). Metabolism is a vital process for energy production and the maintenance of essential cellular functions. Excess energy storage is predominantly regulated by the adipose tissue. Primarily made up of adipocytes, adipose tissue acts as the body's major energy reservoir...
2017: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/29021385/aldosterone-is-essential-for-angiotensin-ii-induced-upregulation-of-pendrin
#8
Daigoro Hirohama, Nobuhiro Ayuzawa, Kohei Ueda, Mitsuhiro Nishimoto, Wakako Kawarazaki, Atsushi Watanabe, Tatsuo Shimosawa, Takeshi Marumo, Shigeru Shibata, Toshiro Fujita
The renin-angiotensin-aldosterone system has an important role in the control of fluid homeostasis and BP during volume depletion. Dietary salt restriction elevates circulating angiotensin II (AngII) and aldosterone levels, increasing levels of the Cl(-)/HCO3(-) exchanger pendrin in β-intercalated cells and the Na(+)-Cl(-) cotransporter (NCC) in distal convoluted tubules. However, the independent roles of AngII and aldosterone in regulating these levels remain unclear. In C57BL/6J mice receiving a low-salt diet or AngII infusion, we evaluated the membrane protein abundance of pendrin and NCC; assessed the phosphorylation of the mineralocorticoid receptor, which selectively inhibits aldosterone binding in intercalated cells; and measured BP by radiotelemetry in pendrin-knockout and wild-type mice...
October 11, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/29020170/breast-cancer-incidence-and-metalworking-fluid-exposure-in-a-cohort-of-female-autoworkers
#9
Erika Garcia, Patrick T Bradshaw, Ellen A Eisen
Breast cancer is the leading cancer diagnosed among women and environmental studies have produced few leads on modifiable risk factors. Following an Institute of Medicine recommendation for occupational studies of highly exposed women, we took advantage of an existing cohort of 4,503 female hourly autoworkers in Michigan exposed to metalworking fluid (MWF), complex mixtures of oils and chemicals widely used in metal manufacturing worldwide. Cox proportional hazards models were fit to estimate hazard ratios (HR) for incident breast cancer (follow-up 1985-2013) and cumulative exposure (20-year lag) to straight mineral oils (a known human carcinogen), and water-based soluble and synthetic MWF...
August 23, 2017: American Journal of Epidemiology
https://www.readbyqxmd.com/read/28992460/lipid-chain-saturation-and-the-cholesterol-in-the-phospholipid-membrane-affect-the-spectroscopic-properties-of-lipophilic-dye-nile-red
#10
Animesh Halder, Baishakhi Saha, Pabitra Maity, Gopinatha Suresh Kumar, Deepak Kumar Sinha, Sanat Karmakar
We have studied the effect of composition and the phase state of phospholipid membranes on the emission spectrum, anisotropy and lifetime of a lipophilic fluorescence probe nile red. Fluorescence spectrum of nile red in membranes containing cholesterol has also been investigated in order to get insights into the influence of cholesterol on the phospholipid membranes. Maximum emission wavelength (λem) of nile red in the fluid phase of saturated and unsaturated phospholipids was found to differ by ~10nm. The λem was also found to be independent of chain length and charge of the membrane...
October 5, 2017: Spectrochimica Acta. Part A, Molecular and Biomolecular Spectroscopy
https://www.readbyqxmd.com/read/28990976/orbital-inflammation-as-a-presenting-sign-for-crest-syndrome
#11
Shirin W Hamed-Azzam, David P D'Cruz, David H Verity
A 61-year-old male was referred with a week's history of a painful and swollen left eye. Examination revealed normal visual acuities, left proptosis and global restriction of ocular ductions, and subretinal fluid at the macula. CT imaging confirmed thickening of the posterior scleral coat, with an associated choroidal effusion. Serology revealed positive antinuclear antibodies with a centromere staining pattern; subsequent rheumatology review revealed extensive telangiectasia with digital ulceration in both hands, and a diagnosis of limited cutaneous systemic sclerosis was made...
September 27, 2017: Ophthalmic Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28986974/a-review-of-methods-for-the-chemical-characterization-of-cannabis-natural-products
#12
REVIEW
Allegra Leghissa, Zacariah L Hildenbrand, Kevin A Schug
Cannabis has garnered a great deal of new attention in the past couple of years in the United States due to the increasing instances of its legalization for recreational use and indications for medicinal benefit. Despite a growing number of laboratories focused on cannabis analysis, the separation science literature pertaining to the determination of cannabis natural products is still in its infancy despite the plant having been utilized by humans for nearly 30 000 years and it being now the most widely used drug world-wide...
October 7, 2017: Journal of Separation Science
https://www.readbyqxmd.com/read/28986320/sustained-intrathecal-therapeutic-protein-delivery-using-genetically-transduced-tissue-implants-in-a-freely-moving-rat-model
#13
J P Aronson, H A Katnani, I Pomerantseva, N Shapir, H Tse, R Miari, H Goltsman, O Mwizerwa, C M Neville, G A Neil, E N Eskandar, C A Sundback
Systemic delivery of therapeutic proteins to the central nervous system (CNS) is challenging because of the blood-brain barrier restrictions. Direct intrathecal delivery is possible but does not produce stable concentrations. We are proposing an alternative approach for localized delivery into the CNS based on the Transduced Autologous Restorative Gene Therapy (TARGT) system. This system was previously developed using a gene therapy approach with dermal tissue implants. Lewis rat dermal tissue was transduced to secrete human EPO (hEPO)...
October 3, 2017: International Journal of Pharmaceutics
https://www.readbyqxmd.com/read/28982672/sodium-and-fluid-excretion-with-torsemide-in-healthy-subjects-is-limited-by-the-short-duration-of-diuretic-action
#14
Salim Shah, Bertram Pitt, D Craig Brater, Peter U Feig, Wen Shen, Fatima S Khwaja, Christopher S Wilcox
BACKGROUND: Loop diuretics are highly natriuretic but their short duration of action permits postdiuretic sodium retention, which limits salt loss unless dietary salt is severely restricted. We tested the hypothesis that a more prolonged duration of action would enhance salt loss. METHODS AND RESULTS: Ten healthy participants were crossed over between 20 mg of oral immediate-release or extended-release (ER) torsemide while consuming a fixed diet with 300 mmol·d(-1) of Na(+)...
October 5, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/28982378/efficacy-and-safety-of-a-balanced-salt-solution-versus-a-0-9-saline-infusion-for-the-prevention-of-contrast-induced-acute-kidney-injury-basic-trial-a-study-protocol-for-a-randomized-controlled-trial
#15
Hyung Ah Jo, Sehoon Park, Chan-Duck Kim, Hee-Yeon Jung, Jang-Hee Cho, Ran-Hui Cha, Ea Wha Kang, Tae Ik Chang, Sejoong Kim, Hyung-Jong Kim, Byung Ha Chung, Jung Pyo Lee, Jung Tak Park, Seung Hyeok Han, Tae-Hyun Yoo, Dong-Ryeol Ryu, Sung Jin Moon, Jae Hyun Chang, Dong Ki Kim, Kwon Wook Joo
BACKGROUND: Contrast-induced acute kidney injury (CI-AKI) is one of the most common causes of iatrogenic kidney injury and, therefore, its prevention is an important issue. However, whether the administration of 0.9% saline is the optimal prophylaxis method remains uncertain due to its supra-physiologic chloride component. In particular, recent studies suggest that chloride-restricted solutions showed superiority over 0.9% saline in several clinical settings. METHODS/DESIGN: The investigators designed a multicenter randomized controlled trial to compare the efficacy of a balanced salt solution and 0...
October 5, 2017: Trials
https://www.readbyqxmd.com/read/28981592/comparison-of-two-stroke-volume-variation-based-goal-directed-fluid-therapies-for-supratentorial-brain-tumour-resection-a-randomized-controlled-trial
#16
C Y Wu, Y S Lin, H M Tseng, H L Cheng, T S Lee, P L Lin, W H Chou, Y J Cheng
Background: The optimal volume status for neurosurgery has yet to be determined. We compared two fluid protocols based on different stroke volume variation (SVV) cut-offs for goal-directed fluid therapy (GDFT) during supratentorial brain tumour resection. Methods: A randomized, single-blind, open-label trial was conducted. Eighty adult patients undergoing elective supratentorial brain tumour resection were randomly divided into a low SVV and a high SVV group. The SVV cut-offs were used to determine when to initiate colloid infusion...
July 17, 2017: British Journal of Anaesthesia
https://www.readbyqxmd.com/read/28980312/neural-stem-progenitor-cells-are-activated-during-tail-regeneration-in-the-leopard-gecko-eublepharis-macularius
#17
Eab Gilbert, M K Vickaryous
As for many lizards, the leopard gecko (Eublepharis macularius) can self-detach its tail to avoid predation and then regenerate a replacement. The replacement tail includes a regenerated spinal cord with a simple morphology: an ependymal layer surrounded by nerve tracts. We hypothesized that cells within the ependymal layer of the original spinal cord include populations of neural stem/progenitor cells (NSPCs) that contribute to the regenerated spinal cord. Prior to tail loss, we performed a bromodeoxyuridine pulse-chase experiment and found that a subset of ependymal layer cells (ELCs) were label-retaining after a 140-day chase period...
October 4, 2017: Journal of Comparative Neurology
https://www.readbyqxmd.com/read/28979560/a-case-study-of-likely-wild-type-cardiac-transthyretin-amyloidosis-causing-rapid-deterioration
#18
Thomas Davies, Aarash Saleh, Gerry Coghlan, Carol Whelan, Banwari Agarwal
We present the case of an 88-year-old gentleman who presented to hospital septic with bilateral leg cellulitis, pulmonary oedema and hypotension. He had no history of heart disease but had had bilateral carpal tunnel releases. His condition deteriorated with refractory hypotension in spite of fluid filling, inotropic and vasopressor support. His echocardiogram showed an infiltrative cardiomyopathy with a speckled myocardium, severe concentric left and right ventricular increased wall thickness, diastolic dysfunction, biatrial dilatation and restrictive physiology in keeping with cardiac amyloidosis...
May 2017: J Intensive Care Soc
https://www.readbyqxmd.com/read/28978187/non-blood-circulating-tumor-dna-detection-in-cancer
#19
REVIEW
Muyun Peng, Chen Chen, Alicia Hulbert, Malcolm V Brock, Fenglei Yu
Tumor DNA contains specific somatic alterations that are crucial for the diagnosis and treatment of cancer. Due to the spatial and temporal intra-tumor heterogeneity, multi-sampling is needed to adequately characterize the somatic alterations. Tissue biopsy, however, is limited by the restricted access to sample and the challenges to recapitulate the tumor clonal diversity. Non-blood circulating tumor DNA are tumor DNA fragments presents in non-blood body fluids, such as urine, saliva, sputum, stool, pleural fluid, and cerebrospinal fluid (CSF)...
September 15, 2017: Oncotarget
https://www.readbyqxmd.com/read/28976018/extracranial-outflow-of-particles-solved-in-cerebrospinal-fluid-fluorescein-injection-study
#20
Takuya Akai, Toshihisa Hatta, Hiroki Shimada, Keiji Mizuki, Nae Kudo, Taizo Hatta, Hiroki Otani
Cerebrospinal fluid is thought to be mainly absorbed into arachnoid granules in the subarachnoid space and drained into the sagittal sinus. However, some observations such as late outbreak of arachnoid granules in fetus brain and recent cerebrospinal fluid movements study by magnetic resonance images, conflict with this hypothesis. In this study, we investigated the movement of cerebrospinal fluid in fetuses. Several kinds of fluorescent probes with different molecular weights were injected into the lateral ventricle or subarachnoid space in mouse fetuses at a gestational age of 13 days...
October 4, 2017: Congenital Anomalies
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