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https://www.readbyqxmd.com/read/28344780/abnormal-glycosylation-in-joubert-syndrome-type-10
#1
Megan S Kane, Mariska Davids, Michelle R Bond, Christopher J Adams, Megan E Grout, Ian G Phelps, Diana R O'Day, Jennifer C Dempsey, Xeuli Li, Gretchen Golas, Gilbert Vezina, Meral Gunay-Aygun, John A Hanover, Dan Doherty, Miao He, May Christine V Malicdan, William A Gahl, Cornelius F Boerkoel
BACKGROUND: The discovery of disease pathogenesis requires systematic agnostic screening of multiple homeostatic processes that may become deregulated. We illustrate this principle in the evaluation and diagnosis of a 5-year-old boy with Joubert syndrome type 10 (JBTS10). He carried the OFD1 mutation p.Gln886Lysfs*2 (NM_003611.2: c.2656del) and manifested features of Joubert syndrome. METHODS: We integrated exome sequencing, MALDI-TOF mass spectrometry analyses of plasma and cultured dermal fibroblasts glycomes, and full clinical evaluation of the proband...
2017: Cilia
https://www.readbyqxmd.com/read/28343152/the-answer-is-blowing-in-the-wind-an-uncommon-cause-for-severe-ards-accompanied-by-circulatory-insufficiency-requiring-extracorporeal-membrane-oxygenation
#2
Gunilla Einecke, Gernot Beutel, Marius M Hoeper, Jan T Kielstein
We report a rare complication in an immunosuppressed patient with IgA nephropathy who suffered from severe acute respiratory distress syndrome, severe capillary leakage and shock after placement of a double lumen central venous catheter. He could be successfully treated by extracorporeal membrane oxygenation (ECMO) and therapeutic plasma exchange. This report highlights the severity of late-onset complications of catheter placements and shows the potential of ECMO treatment for the management of acute illnesses with bridge to recovery...
March 24, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28339922/therapeutic-plasma-exchange-for-potential-human-leukocyte-antigen-antibody-mediated-rejection-in-liver-transplant-patients
#3
Eric Salazar, David Cohen, Tina Ipe, Christopher Leveque
No abstract text is available yet for this article.
March 1, 2017: American Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28339843/availability-and-cost-of-extracorporeal-treatments-for-poisonings-and-other-emergency-indications-a-worldwide-survey
#4
Josée Bouchard, Valery Lavergne, Darren M Roberts, Monique Cormier, Genevieve Morissette, Marc Ghannoum
Background: Extracorporeal treatments (ECTRs) are used for different conditions, including replacement of organ function and poisoning. Current recommendations for ECTRs in various poisonings suggest that intermittent haemodialysis (IHD) is the most efficient technique. However, the practicality of these recommendations is poorly defined in view of limited information on availability and cost worldwide. Methods: A survey invitation to an Internet-based questionnaire was emailed between January 2014 and March 2015 to members of international societies to determine the availability, time to initiation and cost of ECTRs (including filters, dialysate, catheter, anticoagulant and nursing/physician salary)...
February 23, 2017: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/28338823/transporters-involved-in-ph-and-k-homeostasis-affect-pollen-wall-formation-male-fertility-and-embryo-development
#5
Senthilkumar Padmanaban, Daniel D Czerny, Kara A Levin, Alexander R Leydon, Robert T Su, Timothy K Maugel, Yanjiao Zou, Salil Chanroj, Alice Y Cheung, Mark A Johnson, Heven Sze
Flowering plant genomes encode multiple cation/H+ exchangers (CHXs) whose functions are largely unknown. AtCHX17, AtCHX18, and AtCHX19 are membrane transporters that modulate K+ and pH homeostasis and are localized in the dynamic endomembrane system. Loss of function reduced seed set, but the particular phase(s) of reproduction affected was not determined. Pollen tube growth and ovule targeting of chx17chx18chx19 mutant pollen appeared normal, but reciprocal cross experiments indicate a largely male defect...
February 23, 2017: Journal of Experimental Botany
https://www.readbyqxmd.com/read/28337628/study-of-plasma-off-gas-treatment-from-spent-ion-exchange-resin-pyrolysis
#6
Hernán Ariel Castro, Vittorio Luca, Hugo Luis Banchi
Polystyrene divinylbenzene-based ion exchange resins are employed extensively within nuclear power plants (NPPs) and research reactors for purification and chemical control of the cooling water system. To maintain the highest possible water quality, the resins are regularly replaced as they become contaminated with a range of isotopes derived from compromised fuel elements as well as corrosion and activation products including (14)C, (60)Co, (90)Sr, (129)I, and (137)Cs. Such spent resins constitute a major proportion (in volume terms) of the solid radioactive waste generated by the nuclear industry...
March 23, 2017: Environmental Science and Pollution Research International
https://www.readbyqxmd.com/read/28336574/switching-head-group-selectivity-in-mammalian-sphingolipid-biosynthesis-by-active-site-engineering-of-sphingomyelin-synthases
#7
Matthijs Kol, Radhakrishnan Panatala, Mirjana Nordmann, Leoni Swart, Leonie Van Suijlekom, Birol Cabukusta, Angelika Hilderink, Tanja Gabrietz, John G M Mina, Pentti Somerharju, Sergei Korneev, Fikadu G Tafesse, Joost C M Holthuis
Sphingomyelin (SM) is a fundamental component of mammalian cell membranes that contributes to mechanical stability, signaling and sorting. Its production involves the transfer of phosphocholine from phosphatidylcholine onto ceramide, a reaction catalyzed by SM synthase SMS1 in the Golgi and SMS2 at the plasma membrane. Mammalian cells also synthesize trace amounts of the SM analog ceramide phosphoethanolamine (CPE), but the physiological relevance of CPE production is unclear. Previous work revealed that SMS2 is a bifunctional enzyme producing both SM and CPE whereas a closely related enzyme, SMSr/SAMD8, acts as a monofunctional CPE synthase in the ER...
March 23, 2017: Journal of Lipid Research
https://www.readbyqxmd.com/read/28333828/prehospital-blood-transfusion-programs-capabilities-and-lessons-learned
#8
Martin D Zielinski, James R Stubbs, Kathleen S Berns, Elon Glassberg, Alan D Murdock, Eilat Shinar, Geir Arne Sunde, Steve Williams, Mark H Yazer, Scott Zietlow, Donald H Jenkins
The Trauma and Hemostasis Oxygenation Research (THOR) network has met in Bergen, Norway every summer over the past six years in an effort to have experts in transfusion, blood banking, military medicine, and trauma surgery exchange ideas, share their experiences, and set an agenda to move the science of remote damage control resuscitation forward. In this manuscript, we supply the lessons shared from the authors/speakers to the reader. These lessons include the experiences of the Norwegian Military with freeze dried plasma and whole blood resuscitation, lessons from extreme remote damage control resuscitation situations on oceanic cruises, and remote blood product resuscitation techniques at Mayo Clinic and the University of Pittsburgh...
March 22, 2017: Journal of Trauma and Acute Care Surgery
https://www.readbyqxmd.com/read/28330937/raft-based-sphingomyelin-interactions-revealed-by-new-fluorescent-sphingomyelin-analogs
#9
Masanao Kinoshita, Kenichi G N Suzuki, Nobuaki Matsumori, Misa Takada, Hikaru Ano, Kenichi Morigaki, Mitsuhiro Abe, Asami Makino, Toshihide Kobayashi, Koichiro M Hirosawa, Takahiro K Fujiwara, Akihiro Kusumi, Michio Murata
Sphingomyelin (SM) has been proposed to form cholesterol-dependent raft domains and sphingolipid domains in the plasma membrane (PM). How SM contributes to the formation and function of these domains remains unknown, primarily because of the scarcity of suitable fluorescent SM analogs. We developed new fluorescent SM analogs by conjugating a hydrophilic fluorophore to the SM choline headgroup without eliminating its positive charge, via a hydrophilic nonaethylene glycol linker. The new analogs behaved similarly to the native SM in terms of their partitioning behaviors in artificial liquid order-disorder phase-separated membranes and detergent-resistant PM preparations...
March 22, 2017: Journal of Cell Biology
https://www.readbyqxmd.com/read/28328098/plasma-exchange-successfully-treated-macrophage-activation-syndrome-in-rheumatoid-factor-positive-polyarticular-juvenile-idiopathic-arthritis-with-combined-pneumonia
#10
Lianjie Shi, Fanlei Hu, Chuanhui Xu, Huaqun Zhu, Di Qie, Chuanjie Yuan, Yuhong Tao, Hanmin Liu
Macrophage activation syndrome (MAS) is one of the serious complications associated with rheumatic diseases, especially systemic juvenile idiopathic arthritis (sJIA). Here we describe a 9-year-old girl with rheumatoid factor (RF)-positive polyarticular JIA, not sJIA, combined with pneumonia who was successfully treated by plasma exchange. She was diagnosed with RF-positive polyarticular JIA based on positive RF and multiple joint swelling and tenderness 3 years ago. She was admitted in our hospital with myalgia for 2 days and a high fever for half a day...
March 22, 2017: International Journal of Rheumatic Diseases
https://www.readbyqxmd.com/read/28325783/renal-handling-of-ketones-in-response-to-sodium-glucose-cotransporter-2-inhibition-in-patients-with-type-2-diabetes
#11
Ele Ferrannini, Simona Baldi, Silvia Frascerra, Brenno Astiarraga, Elisabetta Barsotti, Aldo Clerico, Elza Muscelli
OBJECTIVE: Pharmacologically induced glycosuria elicits adaptive responses in glucose homeostasis and hormone release, including decrements in plasma glucose and insulin levels, increments in glucagon release, enhanced lipolysis, and stimulation of ketogenesis, resulting in an increase in ketonemia. We aimed at assessing the renal response to these changes. RESEARCH DESIGN AND METHODS: We measured fasting and postmeal urinary excretion of glucose, β-hydroxybutyrate (β-HB), lactate, and sodium in 66 previously reported patients with type 2 diabetes and preserved renal function (estimated glomerular filtration rate ≥60 mL · min(-1) · 1...
March 21, 2017: Diabetes Care
https://www.readbyqxmd.com/read/28325251/interferon-induced-thrombotic-microangiopathy-tma-analysis-and-concise-review
#12
REVIEW
Ajay Kundra, Jen Chin Wang
Interferon (IFN) has been associated with development of thrombotic microangiopathy including thrombotic thrombocytopenic purpura (TTP) and hemolytic uremic syndrome (HUS). We reviewed literature from the earliest reported association in 1993, to July 2016 and found 68 cases. Analysis of this data shows: (1) Mean age at diagnosis was 47 years (95% CI, 44-50). (2) Majority of cases were seen where IFN was used for the treatment of chronic myelogenous leukemia (CML), multiple sclerosis (MS), chronic hepatitis C virus infection (HCV) and one case each for hairy cell leukemia (HCL) and Sezary syndrome...
April 2017: Critical Reviews in Oncology/hematology
https://www.readbyqxmd.com/read/28321334/the-interpretation-of-cholesterol-balance-derived-synthesis-data-and-surrogate-noncholesterol-plasma-markers-for-cholesterol-synthesis-under-lipid-lowering-therapies
#13
REVIEW
Frans Stellaard, Dieter Lütjohann
The cholesterol balance procedure allows the calculation of cholesterol synthesis based on the assumption that loss of endogenous cholesterol via fecal excretion and bile acid synthesis is compensated by de novo synthesis. Under ezetimibe therapy hepatic cholesterol is diminished which can be compensated by hepatic de novo synthesis and hepatic extraction of plasma cholesterol. The plasma lathosterol concentration corrected for total cholesterol concentration (R_Lath) as a marker of de novo cholesterol synthesis is increased during ezetimibe treatment but unchanged under treatment with ezetimibe and simvastatin...
2017: Cholesterol
https://www.readbyqxmd.com/read/28321086/acquired-thrombotic-thrombocytopenic-purpura-with-a-smoldering-clinical-course
#14
Chiaki Naito, Yoshiyuki Ogawa, Kunio Yanagisawa, Takuma Ishizaki, Masahiro Mihara, Masaki Hayakawa, Masanori Matsumoto, Yoshihisa Nojima, Hiroshi Handa
Acquired thrombotic thrombocytopenic purpura (aTTP) is caused by a deficiency of ADAMTS13 activity due to neutralizing auto-autoantibodies (inhibitors) against ADAMTS13. Patients with aTTP show a rapid and fatal clinical course, unless an effective therapeutic intervention such as plasma exchange therapy (PEX) is performed. There is, however, a small population of patients who show a smoldering clinical course, for which no effective treatment strategy has yet been established. We herein report a 77-year-old man, who had repeated episodes of cerebral infarction and persistent thrombocytopenia over several months, but was not correctly diagnosed as having aTTP at a local hospital...
2017: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
https://www.readbyqxmd.com/read/28321080/the-improvement-of-the-outcome-of-osmotic-demyelination-syndrome-by-plasma-exchange
#15
Saeko Kumon, Ryosuke Usui, Shinzo Kuzuhara, Kosaku Nitta, Minako Koike
A 71-year-old Japanese woman presented with progressive fatigue, lethargy, dysarthria and a gait disorder. Her laboratory data revealed hyponatremia (Na 101 mEq/L), and we started correcting her serum sodium level. Within a few days, she became comatose, bedridden, and was intubated. We diagnosed osmotic demyelination syndrome (ODS) and started performing plasma exchange (PE) on the 39th day of hospitalization. She fully recovered after starting PE, and was discharged on foot unassisted. PE can be a beneficial treatment in patients with chronic ODS...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28319287/iatrogenic-thyrotoxicosis-and-the-role-of-therapeutic-plasma-exchange
#16
Kabeer K Shah, Michael M Mbughuni, Edwin A Burgstaler, Darci R Block, Jeffrey L Winters
Thyroid storm or severe thyrotoxicosis results from extreme thyroid hormone elevation. Therapy includes medical management to prevent hormone production, release, recycling, and peripheral conversion while stabilizing adrenergic tone. Thyroid dysfunction is the usual cause but it can be due to excessive thyroid hormone ingestion. Therapeutic plasma exchange (TPE) has been used to rapidly remove protein-bound thyroid hormone. American Society for Apheresis guidelines make a weak recommendation to perform TPE in selected patients in the treatment of thyrotoxicosis based on low quality evidence...
March 20, 2017: Journal of Clinical Apheresis
https://www.readbyqxmd.com/read/28316443/low-density-lipoprotein-apheresis-in-a-pediatric-patient-of-familial-hypercholesterolemia-primi-experientia-from-a-tertiary-care-center-in-north-india
#17
Kanchan Dogra, Alpesh Goyal, Rajesh Khadgawat, Yashdeep Gupta, Diptiranjan Rout, Parag Prabhakar Fulzele, Rahul Chaurasia, Poonam Coshic, Kabita Chatterjee
Familial hypercholesterolemia (FH) is an autosomal dominant disorder due to mutation of apolipoprotein-B receptor gene causing severe dyslipidemia. Lifestyle modification and medical treatment attenuate the disease progression, but as these fail to control the blood cholesterol levels, low-density lipoprotein (LDL) apheresis comes forth as a treatment option. To the best of our knowledge, the following is the very first case of pediatric FH being treated by LDL-apheresis to be reported from India. A severely malnourished female child presented with yellowish skin lesions over different parts of the body, viz...
January 2017: Asian Journal of Transfusion Science
https://www.readbyqxmd.com/read/28316440/abo-incompatible-renal-transplant-transfusion-medicine-perspective
#18
Raj Nath Makroo, Sweta Nayak, Mohit Chowdhry, Sanjiv Jasuja, Gaurav Sagar, N L Rosamma, Uday Kumar Thakur
INTRODUCTION: Our study presents an analysis of the trends of ABO antibody titers and the TPE (Therapeutic Plasma Exchange) procedures required pre and post ABO incompatible renal transplant. MATERIALS AND METHODS: Twenty nine patients underwent ABO incompatible renal transplant during the study period. The ABO antibody titers were done using the tube technique and titer reported was the dilution at which 1+ reaction was observed. The baseline titers of anti-A and anti-B antibodies were determined...
January 2017: Asian Journal of Transfusion Science
https://www.readbyqxmd.com/read/28304106/therapeutic-plasma-exchange-versus-double-plasma-molecular-absorption-system-in-hepatitis-b-virus-infected-acute-on-chronic-liver-failure-treated-by-entercavir-a-prospective-study
#19
Yue-Meng Wan, Yu-Hua Li, Zhi-Yuan Xu, Jing Yang, Li-Hong Yang, Ying Xu, Jin-Hui Yang
BACKGROUND: Therapeutic plasma exchange (TPE) and double plasma molecular absorption system (DPMAS) were two extracorporeal liver support systems. Few studies compared their efficacy profile. OBJECTIVE: This study was to compare the efficacy of TPE and DPMAS on acute-on-chronic liver failure (ACLF) caused by hepatitis B virus (HBV-ACLF). METHODS: 60 HBV-ACLF patients were enrolled and prospectively studied. All patients received entecavir therapy, and were assigned to TPE group (n = 33) and DPMAS group (n = 27)...
March 17, 2017: Journal of Clinical Apheresis
https://www.readbyqxmd.com/read/28302978/determination-of-ultra-trace-metal-impurities-in-high-purity-cadmium-using-inductively-coupled-plasma-mass-spectrometry-after-matrix-separation-with-anion-exchange-resin
#20
Ayaka Wada, Naoko Nonose, Masaki Ohata, Tsutomu Miura
The analytical method for ultra-trace metal impurities at μg kg(-1) level in high-purity Cd was examined by inductively coupled plasma mass spectrometry (ICP-MS) combined with matrix separation by Bio-Rad AG MP-1M anion exchange resin. After the separation of Cd, the metal impurities such as Li, In, Cr, Mn, Fe, Co, Ni, Cu, Ga, Sr, Ba and Pb were measured by an ICP-quadrupole mass spectrometer (ICP-QMS) and ICP-sector field mass spectrometer (ICP-SFMS). From the comparison of measured results, it was evaluated that the analytical sensitivity by ICP-SFMS was 10 times higher than ICP-QMS...
2017: Analytical Sciences: the International Journal of the Japan Society for Analytical Chemistry
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