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https://www.readbyqxmd.com/read/28719906/a-common-ancestral-asn242ser-mutation-in-tmem67-identified-in-multiple-iranian-families-with-joubert-syndrome
#1
MohammadReza Dehghani, Majid Mojarad, Ehsan Ghayoor Karimiani, Mohammad Yahya Vahidi Mehrjardi, Afsaneh Sahebalzamani, Farah Ashrafzadeh, Mehran Beiraghi Toosi, Atiyeh Eslahi, Najmeh Ahangari, Seyed Mojtaba Yassini, Afsaneh Hassanbeigi, Azam Rasti, Seyed Mehdi Kalantar, Reza Maroofian
BACKGROUND: Joubert syndrome (JS) is a clinically and genetically heterogeneous group of rare neurodevelopmental disorder characterised by peculiar midbrain-hindbrain malformation, known as the "molar tooth" sign. JS can manifest a broad range of signs and symptoms. The most common features of JS are hypotonia, ataxia, developmental delay/intellectual disability, abnormal eye movements, and neonatal breathing abnormalities. To date, 29 genes have been shown to cause JS. METHODS: We employed whole-genome single nucleotide polymorphism genotyping in a group of Iranian families with JS and Sanger sequencing of a known mutation associated with JS located in a single homozygous regions shared by affected members of the families...
July 19, 2017: Public Health Genomics
https://www.readbyqxmd.com/read/28719799/mesencephalic-astrocyte-derived-neurotrophic-factor-manf-a-new-player-in-endoplasmic-reticulum-diseases-structure-biology-and-therapeutic-roles
#2
REVIEW
Yeawon Kim, Sun-Ji Park, Ying Maggie Chen
Mesencephalic astrocyte-derived neurotrophic factor (MANF), a newly identified 18-kDa soluble protein, localizes to the luminal endoplasmic reticulum (ER), whose stress can stimulate MANF expression and secretion. In Drosophila and zebrafish, MANF regulates dopaminergic neuron development. In contrast, in mice, MANF deficiency leads to diabetes and activation of the unfolded protein response. Recent studies in rodent models have demonstrated that MANF mitigates diabetes, exerts neurotrophic function in neurodegenerative disease, protects cardiomyocytes and neurons in myocardial infarction and cerebral ischemia, respectively, and promotes immune cell phenotype switch from proinflammatory macrophages to prorepair anti-inflammatory macrophages...
June 29, 2017: Translational Research: the Journal of Laboratory and Clinical Medicine
https://www.readbyqxmd.com/read/28719636/the-non-diuretic-hypotensive-effects-of-thiazides-are-enhanced-during-volume-depletion-states
#3
Saeed Alshahrani, Robert M Rapoport, Kamyar Zahedi, Min Jiang, Michelle Nieman, Sharon Barone, Andrea L Meredith, John N Lorenz, Jack Rubinstein, Manoocher Soleimani
Thiazide derivatives including Hydrochlorothiazide (HCTZ) represent the most common treatment of mild to moderate hypertension. Thiazides initially enhance diuresis via inhibition of the kidney Na+-Cl- Cotransporter (NCC). However, chronic volume depletion and diuresis are minimal while lowered blood pressure (BP) is maintained on thiazides. Thus, a vasodilator action of thiazides is proposed, likely via Ca2+-activated K+ (BK) channels in vascular smooth muscles. This study ascertains the role of volume depletion induced by salt restriction or salt wasting in NCC KO mice on the non-diuretic hypotensive action of HCTZ...
2017: PloS One
https://www.readbyqxmd.com/read/28719617/microrna-155-deficiency-leads-to-decreased-autoantibody-levels-and-reduced-severity-of-nephritis-and-pneumonitis-in-pristane-induced-lupus
#4
Harald Leiss, Wilhelm Salzberger, Barbara Jacobs, Irina Gessl, Nicolas Kozakowski, Stephan Blüml, Antonia Puchner, Attila Kiss, Bruno K Podesser, Josef S Smolen, Georg H Stummvoll
OBJECTIVE: We herein examine the role of endogenous miR155 in the development of systemic manifestations in pristane induced lupus. MATERIALS AND METHODS: Systemic lupus in miR155-deficient and wild type mice was induced upon injection of pristane and analyzed after 8 months, PBS-injected mice served as controls. Glomerulonephritis and pneumonitis were quantified using the kidney biopsy score and a newly adapted histomorphometric image analysis system; lung tissue was further analyzed by tissue cytometry...
2017: PloS One
https://www.readbyqxmd.com/read/28719609/renal-function-following-xenon-anesthesia-for-partial-nephrectomy-an-explorative-analysis-of-a-randomized-controlled-study
#5
Ana Stevanovic, Patrick Schaefer, Mark Coburn, Rolf Rossaint, Christian Stoppe, Peter Boor, David Pfister, Axel Heidenreich, Hildegard Christ, Martin Hellmich, Astrid V Fahlenkamp
BACKGROUND: Perioperative preservation of renal function has a significant impact on morbidity and mortality in kidney surgery. Nephroprotective effects of the anesthetic xenon on ischemia-reperfusion injury were found in several experimental studies. OBJECTIVE: We aimed to explore whether xenon anesthesia can reduce renal damage in humans undergoing partial nephrectomy and to gather pilot data of possible nephroprotection in these patients. DESIGN: A prospective randomized, single-blinded, controlled study...
2017: PloS One
https://www.readbyqxmd.com/read/28719489/antithrombin-iii-attenuates-aki-following-acute-severe-pancreatitis
#6
Yiwei Kong, Jianyong Yin, Dongsheng Cheng, Zeyuan Lu, Niansong Wang, Feng Wang, Mingyu Liang
BACKGROUND: Antithrombin III (ATIII), the predominant coagulation factor inhibitor, possesses anti-inflammatory properties and exerts reno-protective effects on renal ischemia-reperfusion injury in animal models. However, the ATIII's protective effects of ATIII on acute kidney injury (AKI) following severe acute pancreatitis (SAP) need to be confirmed. METHODS: We assessed the association between ATIII activities and the incidence of AKI in patients with SAP, and explored therapeutic effects and potential mechanisms of ATIII on kidney injury in sodium taurocholate induced SAP rat model...
July 17, 2017: Shock
https://www.readbyqxmd.com/read/28719391/pediatric-and-congenital-hand-transplantation
#7
Sandra Amaral, L Scott Levin
PURPOSE OF REVIEW: We review the approach and challenges associated with pediatric hand transplantation, including new knowledge gleaned from our recent case of bilateral hand-forearm transplantation in an 8-year old child. RECENT FINDINGS: Bilateral heterologous hand-forearm transplantation was performed in a child with a prior kidney transplant in July 2015. The initial surgery necessitated a large team of experts in microvascular surgery, transplant surgery, orthopedics and plastic surgery as well as pediatric anesthesia...
July 14, 2017: Current Opinion in Organ Transplantation
https://www.readbyqxmd.com/read/28719376/stability-of-spironolactone-oral-suspension-in-pcca-base-suspendit
#8
Richard Graves, Kelly V Phan, Levon A Bostanian, Tarun K Mandal, Yashoda V Pramar
Spironolactone (Aldactone) is a potassium-sparing diuretic used to treat hypertension and heart failure and may also be used to treat edema resulting from kidney disease, low potassium levels, or excess aldosterone. No commercial liquid dosage form of spironolactone exists. An extemporaneously compounded suspension from pure drug powder or commercial tablets would provide an alternative option to meet unique patient needs. The purpose of this study was to determine the physicochemical stability of spironolactone in the PCCA base SuspendIt...
July 2017: International Journal of Pharmaceutical Compounding
https://www.readbyqxmd.com/read/28719154/progression-of-skin-autofluorescence-of-ages-over-4-years-in-patients-with-type-1-diabetes
#9
Kalina Rajaobelina, Catherine Helmer, Fritz-Line Vélayoudom-Céphise, Sovanndany Nov, Blandine Farges, Emilie Pupier, Laurence Blanco, Marie Hugo, Henri Gin, Vincent Rigalleau
BACKGROUND: The deposit of Advanced Glycation End-products (AGEs) is involved in diabetic complications. It can be evaluated by measuring the skin autofluorescence (sAF). We searched whether sAF progressed over 4 years in Type 1 Diabetes, and analysed its relationship with the development of nephropathy. METHODS: Two measurements of sAF was realized on 154 patients during years 2009 and 2013. Baseline factors associated to the progression of sAF were analyzed by multivariate regression analysis...
July 18, 2017: Diabetes/metabolism Research and Reviews
https://www.readbyqxmd.com/read/28719149/cadmium-induced-toxicity-is-rescued-by-curcumin-a-review
#10
REVIEW
Mohammad Mohajeri, Mehdi Rezaee, Amirhossein Sahebkar
Cadmium (Cd) is one of the most common environmental and occupational heavy metals with extended distribution. Exposure to Cd may be associated with several deleterious consequences on the liver, bones, kidneys, lungs, testes, brain, immunological, and cardiovascular systems. Overproduction of reactive oxygen species (ROS) as the main mechanism behind its toxicity causes oxidative stress and subsequent damages to lipids, proteins, and DNA. Therefore, antioxidants along with chelating agents have shown promising outcomes against Cd-induced toxicity...
July 18, 2017: BioFactors
https://www.readbyqxmd.com/read/28718949/high-dosage-of-vitamin-d-regulates-the-energy-metabolism-and-increases-insulin-sensitivity-but-are-associated-with-high-levels-of-kidney-damage
#11
Rafael Calais Gaspar, José Diego Botezelli, Gabriel Keine Kuga, Vitor Rosetto Muñoz, Andressa Coope, Rodrigo Martins Pereira, Adelino Sanchez Ramos da Silva, Dennys Esper Cintra, Leandro Pereira de Moura, Eduardo Rochete Ropelle, José Rodrigo Pauli
Preclinical Research Metabolic disorders are responsible for more than 60% of all deaths worldwide. Calcitriol or vitamin D (vitD) deficiency is associated with a large proportion of these diseases is an important therapeutic target for exploration. This study evaluated the administration of high doses of vitD (3000 IU/kg) in obese and insulin-resistant C57BL/6J mice. Our results demonstrated that although high doses of vitD provided metabolic benefits such as increased insulin sensitivity and decreased body mass, this was associated with significant damage in the kidneys of obese mice...
July 18, 2017: Drug Development Research
https://www.readbyqxmd.com/read/28718733/diagnostic-utility-of-renal-fine-needle-aspirate-cytology-and-ultrasound-in-the-cat
#12
Camille A McAloney, Leslie C Sharkey, Daniel A Feeney, Davis M Seelig
Objectives The primary objective of this study was to retrospectively assess the diagnostic utility of feline renal fine-needle aspiration cytology by assessing diagnostic yield, cytologic characteristics and diagnostic accuracy. The secondary objective was to characterize ultrasonographic features of sampled kidneys to determine if they influenced diagnostic yield. Methods Slides, images and patient data were collected from the University of Minnesota Veterinary Medical Center database. Slides were designated as diagnostic or non-diagnostic...
July 1, 2017: Journal of Feline Medicine and Surgery
https://www.readbyqxmd.com/read/28718696/tumor-induced-disorder-of-iron-metabolism-in-major-organs-a-new-insight-from-chemical-speciation-of-iron
#13
Rujie Chen, Guangcun Chen
Objective To investigate the evolution of iron speciation in major organs of tumor-bearing mice and its role in cancer formation and cancer-associated complications. Methods The concentration and chemical speciation of iron in the spleen, liver, lung, kidney, heart, blood, muscle, and tumor tissue of healthy mice and tumor-bearing mice were studied by synchrotron radiation-based total reflection X-ray fluorescence spectrometry (SR-TXRF) coupled with X-ray absorption spectroscopy (XAS). Results The TXRF and XAS results showed that the iron content, especially the ferritin content, significantly decreased in the blood and spleen but significantly increased in the liver, lung, and muscle of mice after tumor implantation...
January 1, 2017: Journal of International Medical Research
https://www.readbyqxmd.com/read/28718691/permanently-open-stomata-of-aquatic-angiosperms-display-modified-cellulose-crystallinity-patterns
#14
Ilana Shtein, Zoë A Popper, Smadar Harpaz-Saad
Most floating aquatic plants have stomata on their upper leaf surfaces, and usually their stomata are permanently open. We previously identified three distinct crystallinity patterns in stomatal cell walls, with angiosperm kidney-shaped stomata having the highest crystallinity in the polar end walls as well as the adjacent polar regions of the guard cells. A numerical bio-mechanical model suggested that the high crystallinity areas are localized to regions where the highest stress is imposed. Here, stomatal cell wall crystallinity was examined in four floating plants from two different taxa: basal angiosperms from the ANITA grade and monocots...
July 18, 2017: Plant Signaling & Behavior
https://www.readbyqxmd.com/read/28718664/short-term-complications-for-percutaneous-ultrasound-guided-biopsy-of-renal-masses-in-adult-outpatients
#15
Lars René Rasmussen, Martina Loft, Tommy Kjærgaard Nielsen, Marie Bjødstrup Jensen, Søren Høyer, Arne Hørlyck, Ole Graumann
Background Ultrasound-guided percutaneous kidney tumor biopsy (UGPKB) plays an important role in the diagnosis of renal tumor but there are no consensuses with respect to the length and the extend of the post-biopsy observation period. Purpose To assess the short-term complication rate after UGPKB and to evaluate whether the onset of complications allows for the procedure to be performed in an outpatient setting with same-day discharge. Material and Methods Between March 2012 and March 2014, a total of 287 UGPKB were performed in an outpatient setting at a Danish university referral center...
January 1, 2017: Acta Radiologica
https://www.readbyqxmd.com/read/28718614/emergency-management-of-renal-and-genitourinary-trauma-best-practices-update
#16
Whitney K. Bryant, Sanjay Shewakramani
In up to 10% of patients who experience abdominal trauma, renal and urogenital systems will be involved. In polytrauma patients with other potentially life-threatening injuries, renal and genitourinary trauma may be overlooked initially, but a delayed or missed diagnosis of these injuries may result in preventable complications. This review provides a best-practice approach to the diagnosis and management of renal and genitourinary injuries, with an emphasis on the systematic approach needed to identify subtle injuries and avoid long-term urinary sequelae such as hypertension, incontinence, erectile dysfunction, chronic kidney disease, and nephrectomy...
August 2017: Emergency Medicine Practice
https://www.readbyqxmd.com/read/28718268/oxymorphone-induced-thrombotic-microangiopathy-mimicking-atypical-haemolytic-uremic-syndrome
#17
Amibhen Gandhi, Saad Ullah, Shani Kotadia, Samer Nasser
Atypical Haemolytic Uremic Syndrome (aHUS) is a rare life threatening entity characterized by thrombocytopenia, haemolytic anaemia and renal dysfunction. It is a thrombotic microangiopathy related to genetic mutations in the alternate complement pathway and has a distinct pathophysiology which makes it harder to distinguish from other microangiopathies. We present a case of a 25-year-old male patient with history of polysubstance abuse who presented with chest pain and dyspnoea. He admitted to using injectable oxymorphone (Opana) two weeks before presentation...
April 2017: Journal of Ayub Medical College, Abbottabad: JAMC
https://www.readbyqxmd.com/read/28718192/cardiometabolic-risks-vary-by-weight-status-in-pediatric-kidney-and-liver-transplant-recipients-a-cross-sectional-single-center-study-in-the-usa
#18
S He, N A Le, J K Frediani, P D Winterberg, R Jin, R Liverman, A Hernandez, R L Cleeton, M B Vos
There is an increasing need to understand long-term metabolic changes and resultant comorbidities because life expectancy is increasing after pediatric kidney and liver transplants. We evaluated differences in classic and novel cardiometabolic biomarkers among obese and normal weight adolescent transplant recipients. We enrolled a total of 80 adolescent (mean±SD, 14.8 years ±3.0) transplant recipients (63 kidney, 17 liver) with mean duration from transplantation of 6.0 (±4.1) years. Among kidney transplant recipients, overweight and obese individuals had higher leptin (16...
July 17, 2017: Pediatric Transplantation
https://www.readbyqxmd.com/read/28718073/a-randomised-phase-ii-iii-study-to-evaluate-the-efficacy-and-safety-of-orally-administered-oxalobacter-formigenes-to-treat-primary-hyperoxaluria
#19
Dawn Milliner, Bernd Hoppe, Jaap Groothoff
Primary hyperoxaluria (PH) patients overproduce oxalate because of rare genetic errors in glyoxylate metabolism. Recurrent urolithiasis and/or progressive nephrocalcinosis are PH hallmarks and can lead to kidney damage, systemic oxalosis and death. Based on previous studies, we hypothesised that treatment with the oxalate-metabolizing bacterium Oxalobacter formigenes would mediate active elimination of oxalate from the plasma to the intestine of PH patients, thereby reducing urinary oxalate excretion (Uox)...
July 17, 2017: Urolithiasis
https://www.readbyqxmd.com/read/28718025/reduction-of-individual-or-combined-toxicity-of-fumonisin-b1-and-zearalenone-via-dietary-inclusion-of-organo-modified-nano-montmorillonite-in-rats
#20
Aziza A El-Nekeety, Ahmed A El-Kady, Khaled G Abdel-Wahhab, Nabila S Hassan, Mosaad A Abdel-Wahhab
Fusarium mycotoxins are nature environmental contaminants worldwide in animal feed and human food resulting in a serious health risk. The present study aimed to evaluate the potential role of organo-modified nano-montmorillonite (OMNM) against the health risk and the oxidative stress resulted from the exposure of fumonisin (FB1) and zearalenone (ZEN) individually and in combination in rats. Eight groups of female Sprague Dawley rats were treated orally for 3 weeks including the control group, FB1 alone-treated group (50 mg/kg b...
July 17, 2017: Environmental Science and Pollution Research International
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