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Lowe Syndrome

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https://www.readbyqxmd.com/read/28813699/t1-and-t2-mapping-in-cardiology-mapping-the-obscure-object-of-desire
#1
Sophie Mavrogeni, Dimitris Apostolou, Panayiotis Argyriou, Stella Velitsista, Lilika Papa, Stelios Efentakis, Evangelos Vernardos, Mikela Kanoupaki, George Kanoupakis, Athanassios Manginas
The increasing use of cardiovascular magnetic resonance (CMR) is based on its capability to perform biventricular function assessment and tissue characterization without radiation and with high reproducibility. The use of late gadolinium enhancement (LGE) gave the potential of non-invasive biopsy for fibrosis quantification. However, LGE is unable to detect diffuse myocardial disease. Native T1 mapping and extracellular volume fraction (ECV) provide knowledge about pathologies affecting both the myocardium and interstitium that is otherwise difficult to identify...
August 17, 2017: Cardiology
https://www.readbyqxmd.com/read/28812578/throw-caution-to-the-wind-is-refeeding-syndrome-really-a-cause-of-death-in-acute-care
#2
K L Matthews, S M Capra, M A Palmer
BACKGROUND/OBJECTIVES: Refeeding syndrome (RFS), a life-threatening medical condition, is commonly associated with acute or chronic starvation. While the prevalence of patients at risk of RFS in hospital reportedly ranges from 0 to 80%, the prevalence and types of patients who die as a result of RFS is unknown. We aimed to measure the prevalence rate and examine the case histories of patients who passed away with RFS listed as a cause of death. SUBJECTS/METHODS: Patients were eligible for inclusion provided their death occurred within a Queensland hospital...
August 16, 2017: European Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/28812460/myopathic-mtdna-depletion-syndrome-due-to-mutation-in-tk2-gene
#3
Elena Martín-Hernández, María Teresa García-Silva, Pilar Quijada-Fraile, María Elena Rodríguez-García, Henry Rivera, Aurelio Hernández-Laín, David Coca-Robinot, Joaquín Fernández-Toral, Joaquín Arenas, Miguel A Martín, Francisco Martínez-Azorín
Whole-exome sequencing was used to identify the disease gene(s) in a Spanish girl with failure to thrive, muscle weakness, mild facial weakness, elevated creatine kinase, deficiency of mitochondrial complex III and depletion of mtDNA. With whole-exome sequencing data, it was possible to get the whole mtDNA sequencing and discard any pathogenic variant in this genome. The analysis of whole exome uncovered a homozygous pathogenic mutation in thymidine kinase 2 gene ( TK2; NM_004614.4:c.323 C>T, p.T108M)...
September 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28811926/postinjection-delirium-sedation-syndrome-in-patients-with-schizophrenia-receiving-olanzapine-long-acting-injection-results-from-a-large-observational-study
#4
Kristin J Meyers, Himanshu P Upadhyaya, John L Landry, Rashna Chhabra-Khanna, Deborah M Falk, Balasubramanya Seetharama Rao, Meghan E Jones
BACKGROUND: Postinjection delirium/sedation syndrome (PDSS) has been reported uncommonly during treatment with olanzapine long-acting injection (LAI), a sustained-release formulation of olanzapine. AIMS: The primary aim of the study was to estimate the incidence per injection and per patient of PDSS events in adult patients with schizophrenia who were receiving olanzapine LAI in real-world clinical practice. Secondary aims were to further characterise the clinical presentation of PDSS events, to identify potential risk factors associated with PDSS events and to characterise hospitalisations at baseline and post-baseline...
July 2017: BJPsych Open
https://www.readbyqxmd.com/read/28811853/effects-of-sevelamer-hydrochloride-on-uremic-toxins-serum-indoxyl-sulfate-and-p-cresyl-sulfate-in-hemodialysis-patients
#5
Cheng-Jui Lin, Chi-Feng Pan, Chih-Kuang Chuang, Hsuan-Liang Liu, Sung-Fa Huang, Han-Hsiang Chen, Chih-Jen Wu
BACKGROUND: Beside the phosphate binding effect, non-calcium non-aluminum phosphate binder, namely sevelamer hydrochloride (SH), has many other effects in dialysis patients. It can absorb many other compounds, decrease low-density lipoprotein cholesterol (LDL-C) level, and attenuate the progression of vascular calcification; it has been reported to have anti-inflammatory effect. However, it is not clear whether it has any effect on uremic toxins, i.e. serum indoxyl sulfate (IS) and p-cresyl sulfate, (PCS) in hemodialysis (HD) patients...
September 2017: Journal of Clinical Medicine Research
https://www.readbyqxmd.com/read/28811852/the-cluster-of-abnormalities-related-to-metabolic-syndrome-is-associated-with-reduced-glomerular-filtration-rate-and-raised-albuminuria-in-patients-with-type-2-diabetes-mellitus
#6
Miki Kurata, Akiko Takenouchi, Ayaka Tsuboi, Satomi Minato, Mika Takeuchi, Kaori Kitaoka, Keisuke Fukuo, Tsutomu Kazumi
BACKGROUND: As association of metabolic syndrome (MS) with chronic kidney disease (CKD) has not been extensively studied in patients with type 2 diabetes, we addressed these issues. METHODS: Intrapersonal means of 12 measurements of waist circumference, blood pressure and high-density lipoprotein (HDL) cholesterol and those of six measurements of fasting triglycerides during 12 months were calculated in a cohort of 168 previously reported Japanese patients with type 2 diabetes...
September 2017: Journal of Clinical Medicine Research
https://www.readbyqxmd.com/read/28811812/lower-thoracic-syndrome
#7
Muhammad Nazim Farooq
The role of thoracic spine related dysfunction in producing lower extremity symptoms is not clear. This case study describes the assessment and treatment of a patient with low back pain and bilateral lower extremity (BLE) symptoms. It was found that patient education about postural awareness and passive mobilization are valuable aids to decrease BLE symptoms due to sympathetic nervous system (SNS) dysfunction and lower thoracic hypomobility. The clinicians need to consider examination and treatment of the lower thoracic area in patients with BLE symptoms...
May 2017: Pakistan Journal of Medical Sciences Quarterly
https://www.readbyqxmd.com/read/28811779/effect-of-exercise-and-morphine-on-psychological-and-physical-dependencies-bdnf-and-trkb-gene-expression-in-rat-s-hippocampus
#8
Mojtaba Naghshvarian, Mohammad-Reza Zarrindast, Shahram Ejtemaei Mehr, Mohammad Mehdi Ommati, Seyedeh Fatemeh Sajjadi
OBJECTIVES: To compare the effect of exercise and morphine on abstinence syndrome and hippocampal gene expression in rat model. METHODS: Thirty adult male rats were exposed to voluntary wheel exercise (low, medium, high) for 28 days. The subjects entered Conditioned Place Preference (CPP) apparatus and experienced morphine (low, medium, high) CPP and followed by naloxone test. Correlation between exercise level, morphine injection, concurrent morphine administration and exercise with morphine CPP, BDNF and TrkB genes was determined...
May 2017: Pakistan Journal of Medical Sciences Quarterly
https://www.readbyqxmd.com/read/28811701/colorectal-cancer-in-young-adults-a-difficult-challenge
#9
EDITORIAL
Fábio Guilherme Campos
Sporadic colorectal cancer (CRC) is traditionally diagnosed after the sixth decade of life, and current recommendations for surveillance include only patients older than 50 years of age. However, an increasing incidence of CRC in patients less than 40 years of age has been reported. This occurrence has been attributed to different molecular features and low suspicion of CRC in young symptomatic individuals. When confronting young-onset CRC with older patients, issues such as biological aggressiveness, stage at diagnosis and clinical outcomes seem to differ in many aspects...
July 28, 2017: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/28811696/relationship-between-fetal-loss-and-serum-gonadal-hormones-level-in-experimental-antiphospholipid-syndrome-mouse
#10
Shanmugam Velayuthaprabhu, Arunachalam Chinnathambi, Sulaiman Ali Alharbi, Hidehiko Matsubayashi, Govindaraju Archunan
To investigate the effects of antiphospholipid antibodies on establishment of pregnancy and changes in hormones such as estradiol-17ß (E2) and progesterone (P) levels in circulation. Hence, mice were immunized with human β2-Glycoprotein I (β2GPI) and the effect of these antibodies on fetuses weight, placental obsrvation, Serum levels of P and E2 in pregnant mice, hematological were observed. Immunization of mice with human β2-GPI resulted in elevated levels of antiphospholipid antibodies. The experimentally induced antiphospholipid syndrome mouse showed higher rate of fetal resorption, low number of viable fetuses, and "placental abnormalities"...
July 2017: Indian Journal of Clinical Biochemistry: IJCB
https://www.readbyqxmd.com/read/28811527/atherosusceptible-shear-stress-activates-endoplasmic-reticulum-stress-to-promote-endothelial-inflammation
#11
Keith A Bailey, Fawaz G Haj, Scott I Simon, Anthony G Passerini
Atherosclerosis impacts arteries where disturbed blood flow renders the endothelium susceptible to inflammation. Cytokine activation of endothelial cells (EC) upregulates VCAM-1 receptors that target monocyte recruitment to atherosusceptible regions. Endoplasmic reticulum (ER) stress elicits EC dysregulation in metabolic syndrome. We hypothesized that ER plays a central role in mechanosensing of atherosusceptible shear stress (SS) by signaling enhanced inflammation. Aortic EC were stimulated with low-dose TNFα (0...
August 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28811186/identification-and-characterization-of-small-molecule-inhibitors-of-porcine-reproductive-and-respiratory-syndrome-virus
#12
Alyssa B Evans, Pengfei Dong, Hyelee Loyd, Jianqiang Zhang, George A Kraus, Susan Carpenter
Porcine reproductive and respiratory syndrome virus (PRRSV) is the etiological agent of PRRS, an economically significant disease of swine worldwide. PRRSV is poorly controlled by the currently available vaccines, and alternative control strategies are needed to help prevent the continual circulation of the virus. Previously, we developed a synthetic route for the natural compound atractylodinol and demonstrated anti-PRRSV activity in vitro. However, the synthetic route was inefficient and the yield was poor...
August 12, 2017: Antiviral Research
https://www.readbyqxmd.com/read/28810996/rhabdomyolysis-after-crawling-military-training
#13
Danit Atias-Varon, Haggai Sherman, Ran Yanovich, Yuval Heled
INTRODUCTION: Rhabdomyolysis is a syndrome characterized by muscle necrosis followed by release of intracellular muscle contents into the circulation. Exertional rhabdomyolysis (ER) occurs in response to nonfamiliar and/or excessive, prolonged, or repetitive exercises, with eccentric characteristics. In military populations, due to the type of intense, all out physical loads, ER is a significant threat, particularly when training under heat stress. However, many other etiologies exist, and clinical presentations vary greatly...
July 2017: Military Medicine
https://www.readbyqxmd.com/read/28810972/when-military-fitness-standards-no-longer-apply-the-high-prevalence-of-metabolic-syndrome-in-recent-air-force-retirees
#14
Marcus M Cranston, Mark W True, Jana L Wardian, Rishawn M Carriere, Tom J Sauerwein
BACKGROUND: Metabolic syndrome (MetS) is strongly associated with cardiovascular disease. With MetS prevalence rates increasing in the U.S. population, prevention efforts have largely focused on diet and exercise interventions. Before retirement, military service members have met fitness requirements for at least 20 years, and have lower MetS rates compared to age-matched U.S. population controls (23.4% vs. 39.0%), which suggests a protective effect of the lifestyle associated with military service...
July 2017: Military Medicine
https://www.readbyqxmd.com/read/28810889/dehydroepiandrosterone-sulfate-and-dehydroepiandrosterone-sulfate-cortisol-ratio-in-cirrhotic-patients-with-septic-shock-another-sign-of-hepatoadrenal-syndrome
#15
Ming-Hung Tsai, Hui-Chun Huang, Yun-Shing Peng, Yung-Chang Chen, Ya-Chung Tian, Chih-Wei Yang, Jau-Min Lien, Ji-Tseng Fang, Cheng-Shyong Wu, Sen-Yung Hsieh, Fa-Yauh Lee
BACKGROUND: Cirrhotic patients are susceptible to sepsis and critical illness-related corticosteroid insufficiency (CIRCI). Dehydroepiandrosterone sulfate (DHEAS) is a corticotropin-dependent adrenal androgen, which has immunostimulating and antiglucocorticoid effects. Considering the synchronized synthesis of cortisol and DHEAS and their opposing effects to each other, investigators have proposed measuring these two hormones as a ratio. Severe sepsis has been associated with low DHEAS, especially relative to high cortisol...
August 15, 2017: Critical Care: the Official Journal of the Critical Care Forum
https://www.readbyqxmd.com/read/28810323/-the-efficacy-and-safety-of-the-patients-of-myelodysplastic-syndromes-refractory-anemia-with-excess-blasts-treated-with-decitabine-alone-or-cag-hag-regimen
#16
Z F Xu, T J Qin, H L Zhang, L W Fang, Y Zhang, L J Pan, N B Hu, S Q Qu, B Li, Z J Xiao
Objective: To observe the clinical efficacy and safety of the patients of myelodysplastic syndromes-refractory anemia with excess blasts (MDS-REAB) treated with decitabine alone or based on low dose cytarabine (Ara-C) regimen CAG/HAG [aclarubrci (ACR) /homoharring-tonine (HHT) +cytarabine+granulocyte colony stimulating factor (G-CSF) ]. Methods: Totally 121 patients with MDS-REAB were retrospectively analyzed, including 59 patients treated with decitabine alone (20 mg·m(-2)·d(-1) for 5 days) , the rest 62 ones treated with low-dose Ara-C-based regimen CAG/HAG...
July 14, 2017: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
https://www.readbyqxmd.com/read/28809383/increasing-symptoms-in-irritable-bowel-symptoms-with-ingestion-of-galacto-oligosaccharides-are-mitigated-by-%C3%AE-galactosidase-treatment
#17
C J Tuck, K M Taylor, P R Gibson, J S Barrett, J G Muir
OBJECTIVES: Galacto-oligosaccharides (GOS) are dietary FODMAPs (fermentable carbohydrates) associated with triggering gastrointestinal symptoms in patients with irritable bowel syndrome (IBS). This randomized, double-blind, placebo-controlled, cross-over trial aimed to assess whether oral α-galactosidase co-ingestion with foods high in GOS and low in other FODMAPs would reduce symptoms. METHODS: Patients meeting the Rome III criteria for IBS who were hydrogen-producers on breath testing were recruited...
August 15, 2017: American Journal of Gastroenterology
https://www.readbyqxmd.com/read/28809046/platelet-transfusion-to-reverse-antiplatelet-therapy-before-decompressive-surgery-in-patients-with-intracranial-haemorrhage
#18
M Baschin, S Selleng, J-P Zeden, A Westphal, T Kohlmann, H W Schroeder, A Greinacher, T Thiele
BACKGROUND: Platelet concentrates (PC) are transfused to improve primary haemostasis before urgent neurosurgery in patients with intracranial haemorrhage (ICH) receiving antiplatelet therapy (APT). It is unresolved, whether PCs increase the risk for major cardio- and cerebrovascular adverse events. We evaluated a standardized transfusion regimen to reverse APT in patients with ICH who required decompressive neurosurgery. METHODS: Analysed were consecutive patients between 2012 and 2014...
August 14, 2017: Vox Sanguinis
https://www.readbyqxmd.com/read/28808989/can-we-reliably-predict-the-level-of-anticoagulation-after-enoxaparin-injection-in-elderly-patients-with-renal-failure
#19
Luca Pellizzari, Roberto Facchinetti, Luigi Corrà, Anna Sepe, Francesco Fantin, Giorgia Fontana, Mauro Zamboni, Vincenzo Di Francesco
OBJECTIVES: The aim of this study was to evaluate the activity of anti-activated factor X (anti-Xa) in patients with different degrees of chronic renal failure (CRF), treated with therapeutic doses of low molecular weight heparin. DESIGN: This prospective study evaluated the effect of age, renal function, BMI, gender, in determining the efficacy and safety of treatment with enoxaparin, evaluated by assessing the anti-Xa. The therapeutic anticoagulant range was set between 0...
August 14, 2017: Aging Clinical and Experimental Research
https://www.readbyqxmd.com/read/28808787/malignant-transformation-of-a-conservatively-managed-incidental-childhood-cerebral-mass-lesion-controversy-regarding-management-paradigm
#20
Jehuda Soleman, Jonathan Roth, Zvi Ram, Michal Yalon, Shlomi Constantini
BACKGROUND: Incidental findings on neuroimaging in the pediatric population are an emerging treatment challenge. Treatment options for these incidental childhood brain mass lesions, which radiologically may be assumed to be low-grade gliomas (LGG), vary, ranging from careful conservative "wait and scan" treatment to surgical biopsy, gross total resection, and upfront radiation and/or chemotherapy. As malignant transformation of LGG in children is extremely rare, some series advocate careful conservative management of these lesions; however, universal treatment protocols are not totally agreed upon...
August 14, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
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