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https://www.readbyqxmd.com/read/29778029/late-onset-childhood-neuronal-ceroid-lipofuscinosis-early-clinical-and-electroencephalographic-markers
#1
Lucas Beltrán, Gabriela Reyes Valenzuela, Mariana Loos, Rodrigo Vargas, Rafael Lizama, Pablo Spinsanti, Roberto Caraballo
PURPOSE: The objective of the study was to describe the initial clinical and electroencephalographic findings in children with late-infantile neuronal ceroid lipofuscinosis (LINCL). METHOD: The clinical charts of 35 patients seen between 1990 and 2016 were reviewed. The patients were divided into two groups: Group 1 (G1) consisting of 12 patients with NCL type 2 (CLN2) disease confirmed by enzymatic activity in dried blood spots on filter paper and/or genetic studies, and Group 2 (G2) consisting of 23 patients with a diagnosis of LINCL based on pathology studies by muscle biopsy...
May 15, 2018: Epilepsy Research
https://www.readbyqxmd.com/read/29778018/phytochemistry-and-pharmacology-of-anti-depressant-medicinal-plants-a-review
#2
REVIEW
Jeanette Martins, Brijesh S
Stress renders an individual to experience mental pressure and exhaustion which brings about feelings of anxiety, depression, anger and/or other negative emotions. Depression affects a person's state of mind, behaviour, health and is often associated with suicide. The use of anti-depressant drugs as therapeutic agents is associated with symptoms such as, delayed onset of action, side-effects, drug-drug and dietary interactions, sexual dysfunction, cardiac toxicity, etc. Thus, there is need to target these issues and improve current treatment options...
May 16, 2018: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/29778014/expression-of-grape-acs1-in-tomato-decreases-ethylene-and-alters-the-balance-between-auxin-and-ethylene-during-shoot-and-root-formation
#3
Xia Ye, Mengmeng Fu, Yu Liu, Dongliang An, Xianbo Zheng, Bin Tan, Jidong Li, Jun Cheng, Wei Wang, Jiancan Feng
Ethylene plays an important role in the grape rachis, where its production can be 10 times higher than in the berry. VvACS1 is the only rachis-specific ACC synthase (ACS) gene, and its expression is coincident with ethylene production in the rachis of Vitis vinifera 'Thompson seedless'. VvACS1 was cloned and ectopically expressed in tomato (Solanum lycopersicum 'Moneymaker'). Lateral buds were increased in two- or four-week-old 35s∷VvACS1 transgenic tomato plants after transplanting. Compared with wild-type (WT) plants, the transgenic tomato plants showed higher expression of the VvACS1 gene in the flowers, leaves, rachis, and fruits...
May 4, 2018: Journal of Plant Physiology
https://www.readbyqxmd.com/read/29777990/delayed-school-start-time-is-associated-with-better-sleep-daytime-functioning-and-life-satisfaction-in-residential-high-school-students
#4
Christian S Chan, Cyanea Y S Poon, Jacklyn C Y Leung, Kristy N T Lau, Esther Y Y Lau
The effects of a delayed school start time by one hour were examined at a boarding school in Hong Kong. Two cohorts of high school students (N = 228; 61.8% female) were recruited respectively before and after a school start time changed from 7:30am to 8:30am. Both cross-cohort and within-cohort longitudinal comparisons yielded significant increase in total sleep time. Cross-cohort comparison yielded improvement in sleep quality, insomnia, life satisfaction, and psychological distress. Longitudinal data suggested that the longer the additional sleep time, the better was sleep quality, day-time functioning, and subjective wellbeing...
May 16, 2018: Journal of Adolescence
https://www.readbyqxmd.com/read/29777980/trunk-postural-adjustments-medium-term-reliability-and-correlation-with-changes-of-clinical-outcomes-following-an-8-week-lumbar-stabilization-exercise-program
#5
Jean-Alexandre Boucher, Richard Preuss, Sharon M Henry, Marilee Nugent, Christian Larivière
BACKGROUND: Low back pain (LBP) has been previously associated with delayed anticipatory postural adjustments (APAs) determined by trunk muscle activation. Lumbar stabilization exercise programs (LSEP) for patients with LBP may restore the trunk neuromuscular control of the lumbar spine, and normalize APAs. This exploratory study aimed at testing the reliability of EMG and kinematics-based postural adjustment measures over an 8-week interval, assessing their sensitivity to LBP status and treatment and examining their relationship with clinical outcomes...
April 22, 2018: Journal of Electromyography and Kinesiology
https://www.readbyqxmd.com/read/29777911/deficiency-in-gnrh-receptor-trafficking-due-to-a-novel-homozygous-mutation-causes-idiopathic-hypogonadotropic-hypogonadism-in-three-prepubertal-siblings
#6
Rui Zhang, Siyuan Linpeng, Zhuo Li, Yingxi Cao, Hu Tan, Desheng Liang, Lingqian Wu
Idiopathic hypogonadotropic hypogonadism (IHH) is characterized by low levels of gonadotropins and delayed or absent sexual development. Most of the patients are diagnosed in late adolescence or early adulthood. Determining the diagnosis of IHH in prepubertal patients can be challenging. Making a timely, correct diagnosis has important clinical implications. Here we aimed to identify the genetic cause of IHH in three prepubertal siblings from a Chinese Han family and give appropriate treatment advice. Using whole exome sequencing (WES), we identified a novel homozygous GNRHR mutation (NM_000406; c...
May 16, 2018: Gene
https://www.readbyqxmd.com/read/29777899/congenital-dyshormonogenic-hypothyroidism-with-goiter-caused-by-a-sodium-iodide-symporter-slc5a5-mutation-in-a-family-of-shih-tzu-dogs
#7
E A Soler Arias, V A Castillo, J D Garcia, J C Fyfe
An iodide transport defect (ITD) in the thyroid gland was determined to cause congenital dyshormonogenic hypothyroidism with goiter (CDHG) in 2 members of a family of Shih-Tzu dogs. Strikingly, both dogs were also diagnosed with dilated cardiomyopathy at 24 and 1.5 mo of age. The only sign of hypothyroidism was a moderate growth delay in the adult dog. The ITD was recognized by the absence of uptake of technetium-99m in the salivary glands (sg) and goiter observed by scintigraphy. In the same scan, radiopharmaceutical uptake was found in the anterior mediastinum of both dogs and in the right axillary lymph node in the oldest dog...
April 24, 2018: Domestic Animal Endocrinology
https://www.readbyqxmd.com/read/29777849/non-invasive-diagnostic-methods-for-better-screening-of-peripheral-arterial-disease
#8
REVIEW
Neelamshobha Nirala, R Periyasamy, Awanish Kumar
BACKGROUND: Peripheral arterial disease (PAD) is a common circulatory problem in which narrowed arteries reduce blood flow to extremities usually legs. It does not receive enough blood flow to keep up with demand. This causes symptoms, most notably leg pain while walking which is known as claudication. It is a common manifestation of type II Diabetes, but the relationship between other vascular diseases and lower limb (LL)-PAD has been poorly understood and investigated. METHODS: When assessing a patient with clinically LLPAD, two questions are in order to establish a diagnosis: one is non-invasive testing and other is invasive...
May 16, 2018: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/29777846/an-academic-tertiary-referral-center-s-experience-with-a-vascular-surgery-based-uterine-artery-embolization-program
#9
Naiem Nassiri, Adrian Balica, Nolan C Cirillo-Penn, Dustin Tyler Crystal, Gloria A Bachmann
OBJECTIVE: Despite growing endovascular experience within the vascular surgery community, some catheter-based interventions - such as uterine artery embolization (UAE) - remain outside the clinical scope of most vascular surgeons, owing in part to established referral patterns and limited awareness among referring colleagues. We present our experience with a vascular surgery-based, multidisciplinary UAE program at an academic tertiary referral center. METHODS: In a collaborative effort between vascular surgery and gynecology, a Pelvic Vascular Disease Program has been established to provide palliative, prophylactic, and therapeutic embolizations including, but not limited to, UAE...
May 16, 2018: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/29777826/quantifying-fast-optical-signal-and-event-related-potential-relationships-during-a-visual-oddball-task
#10
Nicole Proulx, Ali-Akbar Samadani, Tom Chau
Event-related potentials (ERPs) have previously been used to confirm the existence of the fast optical signal (FOS) but validation methods have mainly been limited to exploring the temporal correspondence of FOS peaks to those of ERPs. The purpose of this study was to systematically quantify the relationship between FOS and ERP responses to a visual oddball task in both time and frequency domains. Near-infrared spectroscopy (NIRS) and electroencephalography (EEG) sensors were co-located over the prefrontal cortex while participants performed a visual oddball task...
May 16, 2018: NeuroImage
https://www.readbyqxmd.com/read/29777785/psmd2-regulates-breast-cancer-cell-proliferation-and-cell-cycle-progression-by-modulating-p21-and-p27-proteasomal-degradation
#11
Yunhai Li, Jing Huang, Beilei Zeng, Dejuan Yang, Jiazheng Sun, Xuedong Yin, Mengqi Lu, Zhu Qiu, Weiyan Peng, Tingxiu Xiang, Hongzhong Li, Guosheng Ren
Alterations in the ubiquitin-proteasome system (UPS) and UPS-associated proteins have been implicated in the development of many human malignancies. In this study, we investigated the expression profiles of 797 UPS-related genes using HiSeq data from The Cancer Genome Atlas and identified that PSMD2 was markedly upregulated in breast cancer. High PSMD2 expression was significantly correlated with poor prognosis. Gene set enrichment analysis revealed that transcriptome signatures involving proliferation, cell cycle, and apoptosis were critically enriched in specimens with elevated PSMD2...
May 16, 2018: Cancer Letters
https://www.readbyqxmd.com/read/29777642/reaching-urban-female-adolescents-at-key-points-of-sexual-and-reproductive-health-transitions-evidence-from-a-longitudinal-study-from-kenya
#12
Ilene S Speizer, Lisa M Calhoun, David K Guilkey
Urban areas include large numbers of adolescents (ages 15-19) and young adults (ages 20-24) who may have unmet sexual and reproductive health (SRH) needs. Worldwide, adolescents contribute 11% of births, many of which are in low and middle-income countries. This study uses recently collected longitudinal data from urban Kenyan women to examine the association between targeted intervention activities and adolescents' SRH transitions. The focus was on a female adolescent (15-19) sample and their transition to first sex and first pregnancy/birth...
March 2018: African Journal of Reproductive Health
https://www.readbyqxmd.com/read/29777631/effect-of-deferasirox-erythropoietin-vs-erythropoietin-on-erythroid-response-in-low-int-1-risk-mds-patients-results-of-the-phase-ii-kallisto-trial
#13
Norbert Gattermann, Rosa Coll, Lutz Jacobasch, Allameddine Allameddine, Amin Azmon, Laurie DeBonnett, Andreas Bruederle, Jie Jin
OBJECTIVES: Erythropoiesis-stimulating agents (ESAs) remain first-choice to treat symptomatic anemia and delay transfusion dependence in most patients with lower-risk myelodysplastic syndromes (MDS) without del(5q). Deferasirox increased erythroid responses in some lower-risk MDS patients in clinical trials, and adding low-dose deferasirox to ESA treatment may further improve erythroid response. METHODS: KALLISTO (NCT01868477) was a randomized, open-label, multicenter, phase II study...
May 19, 2018: European Journal of Haematology
https://www.readbyqxmd.com/read/29777555/impact-of-nicu-oral-feeding-on-neuropsychomotor-outcomes-at-9-months-of-corrected-age-in-chinese-low-birth-weight-preterm-infants-a-retrospective-study
#14
Wenwen Ding, Lijin Zhao, Nan Sheng, Jiali Ma, Ying Zhang
AIMS AND OBJECTIVES: To examine the changes in neuropsychomotor development and investigate the effect of feeding progression in Neonatal Intensive Care Unit (NICU) on neuropsychomotor outcomes in low-birth-weight preterm infants within 9 months of corrected age. BACKGROUND: Low-birth-weight (LBW) preterm infants (<37 weeks of gestation and birth weight < 2500 g) are at a high risk for neuropsychomotor development delay. Therefore, exploring NICU practices related to neuropsychomotor development is important...
May 18, 2018: Journal of Clinical Nursing
https://www.readbyqxmd.com/read/29777529/pharmacokinetics-of-ads-5102-amantadine-extended-release-capsules-administered-once-daily-at-bedtime-for-the-treatment-of-dyskinesia
#15
Robert A Hauser, Rajesh Pahwa, William A Wargin, Cindy J Souza-Prien, Natalie McClure, Reed Johnson, Jack T Nguyen, Rajiv Patni, Gregory T Went
BACKGROUND: Preclinical and clinical studies suggest amantadine immediate-release (IR) may reduce dyskinesia in Parkinson's disease (PD), although higher doses are associated with increased CNS adverse events (AEs). ADS-5102 is an extended release amantadine capsule formulation, designed for once-daily dosing at bedtime (qhs) to provide high concentrations upon waking and throughout the day, with lower concentrations in the evening. The pharmacokinetics (PK) of ADS-5102 were assessed in two phase I studies in healthy subjects, and a blinded, randomized phase II/III dose-finding study in PD patients...
May 18, 2018: Clinical Pharmacokinetics
https://www.readbyqxmd.com/read/29777502/oxi1-kinase-plays-a-key-role-in-resistance-of-arabidopsis-towards-aphids-myzus-persicae
#16
Tahsin Shoala, Martin G Edwards, Marc R Knight, Angharad M R Gatehouse
Plants have co-evolved with a diverse array of pathogens and insect herbivores and so have evolved an extensive repertoire of constitutive and induced defence mechanisms activated through complex signalling pathways. OXI1 kinase is required for activation of mitogen-activated protein kinases (MAPKs) and is an essential part of the signal transduction pathway linking oxidative burst signals to diverse downstream responses. Furthermore, changes in the levels of OXI1 appear to be crucial for appropriate signalling...
May 17, 2018: Transgenic Research
https://www.readbyqxmd.com/read/29777492/redo-proximal-thoracic-aortic-surgery-challenges-and-controversies
#17
Athanasios Antoniou, Mohamad Bashir, Amer Harky, Carmelo Di Salvo
Reoperations on the proximal thoracic aorta represent a challenge. The mortality rate is at least three times higher than it is for the initial surgery and the complications after such procedures occur with disappointingly high frequency, leading to substantial morbidity and delayed recovery. This article aims to present the early and the late outcomes of these kinds of operations, to identify the causes for failure of the primary surgery, to underline the critical points during the perioperative management of those patients and finally to emphasize on the rapid evolution and advent of techniques over the last few years...
May 18, 2018: General Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/29777490/comparison-of-the-etiological-relevance-of-staphylococcus-haemolyticus-and-staphylococcus-hominis
#18
Hagen Frickmann, Andreas Hahn, Romy Skusa, Nils Mund, Vivian Viehweger, Thomas Köller, Kerstin Köller, Norbert Georg Schwarz, Karsten Becker, Philipp Warnke, Andreas Podbielski
The study was performed to assess potential differences in the etiological relevance of two coagulase-negative staphylococci (CoNS), Staphylococcus haemolyticus and Staphylococcus hominis, in an observational single-center study. Over a 5-year interval, patients in whom there was detected S. haemolyticus or S. hominis of presumed etiological relevance were assessed for the primary endpoint death during hospital stay and the secondary endpoint transfer to an intensive care unit (ICU) after the detection of S...
May 19, 2018: European Journal of Clinical Microbiology & Infectious Diseases
https://www.readbyqxmd.com/read/29777485/co-suppression-of-atmips-demonstrates-cooperation-of-mips1-mips2-and-mips3-in-maintaining-myo-inositol-synthesis
#19
C M Fleet, J Y Yen, E A Hill, G E Gillaspy
Co-suppressed MIPS2 transgenic lines allow bypass of the embryo lethal phenotype of the previously published triple knock-out and demonstrate the effects of MIPS on later stages of development. Regulation of inositol production is of interest broadly for its effects on plant growth and development. The enzyme L-myo-inositol 1-phosphate synthase (MIPS, also known as IPS) isomerizes D-glucose-6-P to D-inositol 3-P, and this is the rate-limiting step in inositol production. In Arabidopsis thaliana, the MIPS enzyme is encoded by three different genes, (AtMIPS1, AtMIPS2 and AtMIPS3), each of which has been shown to produce proteins with biochemically similar properties but differential expression patterns...
May 18, 2018: Plant Molecular Biology
https://www.readbyqxmd.com/read/29777468/van-wyk-grumbach-syndrome-a-rare-consequence-of-hypothyroidism
#20
Pavan Reddy, Kritika Tiwari, Abhishek Kulkarni, Ketan Parikh, Raju Khubchandani
Long standing hypothyroidism presenting as an ovarian mass has been well described in literature as the Van Wyk Grumbach syndrome (hypothyroidism, isosexual precocious puberty and ovarian mass). Here, authors report this entity in a 11 y 7 mo old girl child who was referred to a surgeon in view of intestinal obstruction along with a multiloculated ovarian cyst. On evaluation, she was found to have raised serum creatinine, short stature, delayed bone age and pituitary enlargement. She was diagnosed with autoimmune thyroiditis and was started on replacement therapy with thyroxine, after which the ovarian cysts regressed...
May 19, 2018: Indian Journal of Pediatrics
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