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https://www.readbyqxmd.com/read/28647951/complexities-of-care-in-klinefelter-syndrome-an-aprn-perspective
#1
Sharron Close, Amy Talboy, Ilene Fennoy
47,XXY (Klinefelter Syndrome) is associated with a spectrum of complex clinical needs that are associated with variable physical, neurocognitive and psychosocial aspects. For patients and families affected by this sex chromosome trisomy, navigation of health care services is difficult due to lack of 47,XXY awareness among many health care providers and little evidence to support endocrine and additional treatment plans. While endocrine management of androgen deficiency has been the mainstay of treatment for patients from puberty through adulthood, testosterone replacement, alone, fails to mitigate many symptoms and issues...
June 2017: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/28647929/vitamin-d-status-among-israeli-medical-residents
#2
Hadar Moran-Lev, Dror Mandel, Yosef Weisman, Amit Ovental, Ronit Lubetzky
BACKGROUND: Israel is a country with a sunny climate; however, vitamin D deficiency and insufficiency are common findings in certain populations whose exposure to sunlight is limited. Medical residency is known for long indoor working hours, thus theoretically limiting the opportunities for sun exposure. OBJECTIVES: To evaluate whether the vitamin D status among residents in a single medical center in Tel Aviv is below the normal range. METHODS: Forty-six residents (28 females, 18 males, average age 33...
June 2017: Israel Medical Association Journal: IMAJ
https://www.readbyqxmd.com/read/28647870/prothrombotic-genetic-risk-factors-in-patients-with-very-early-st-segment-elevation-myocardial-infarction
#3
Loukianos S Rallidis, Argyri Gialeraki, Georgios Tsirebolos, Stylianos Tsalavoutas, Maria Rallidi, Efstathios Iliodromitis
The contribution of prothrombotic genetic risk factors in the pathogenesis of premature acute myocardial infarction (MI) is controversial. We examined the prevalence of prothrombotic polymorphisms (G1691A of factor V gene [FV Leiden] and G20210A of prothrombin [FII] gene), deficiencies of natural anticoagulants (protein C, protein S and antithrombin III) and antiphospholipid syndrome (APS) in patients with early ST-segment elevation MI (STEMI). We recruited 255 consecutive patients who had survived a STEMI ≤ 35 years of age (224 men)...
June 24, 2017: Journal of Thrombosis and Thrombolysis
https://www.readbyqxmd.com/read/28647856/glial-and-neuronal-protein-tyrosine-phosphatase-alpha-ptp%C3%AE-regulate-oligodendrocyte-differentiation-and-myelination
#4
Yuda Shih, Philip T T Ly, Jing Wang, Catherine J Pallen
CNS myelination defects occur in mice deficient in receptor-like protein tyrosine phosphatase alpha (PTPα). Here, we investigated the role of PTPα in oligodendrocyte differentiation and myelination using cells and tissues from wild-type (WT) and PTPα knockout (KO) mice. PTPα promoted the timely differentiation of neural stem cell-derived oligodendrocyte progenitor cells (OPCs). Compared to WT OPCs, KO OPC cultures had more NG2+ progenitors, fewer myelin basic protein (MBP)+ oligodendrocytes, and reduced morphological complexity...
June 24, 2017: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/28647807/preoperative-nutritional-status-and-its-impact-on-cholangitis-after-kasai-portoenterostomy-in-biliary-atresia-patients
#5
Dandan Li, Xiaoai Chen, Kang Fu, Jixin Yang, Jiexiong Feng
OBJECTIVE: To explore the preoperative nutrition status in patients with biliary atresia (BA) and its effect on the cholangitis of Kasai portoenterostomy (KPE). METHODS: 106 patients who had been diagnosed with BA type III and were undergoing KPE were divided into two groups according to the score obtained using STRONGkids. Preoperative and postoperative data were collected to compare general characteristics and postoperative outcomes between the different groups...
June 24, 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/28647724/observed-and-projected-trends-in-paediatric-health-resources-and-services-in-china-between-2003-and-2030-a-time-series-study
#6
Xin-Yu Zhang, Ying Gao, Chang-Ping Li, Rong-Xiu Zheng, Jie-Li Chen, Lin Zhao, You-Fa Wang, Yao-Gang Wang
OBJECTIVES: The two-child policy took effect in China on 1 January 2016, thus officially ending the one-child policy. The resultant growth in the population will create a considerable demand for public services such as paediatric healthcare, even while there are limited paediatric resources. We estimated the relationship between paediatric health resources and services and child mortality to determine the degree of the deficiency of such resources in China. Projecting the quantity of paediatric health resource allocation and service supply through 2030 will help provide data reference for future policy decision making...
June 24, 2017: BMJ Open
https://www.readbyqxmd.com/read/28647685/irtks-is-correlated-with-progression-and-survival-time-of-patients-with-gastric-cancer
#7
Li-Yu Huang, Xuefei Wang, Xiao-Fang Cui, He Li, Junjie Zhao, Chong-Chao Wu, Lingqiang Min, Zhicheng Zhou, Lixin Wan, Yu-Ping Wang, Chao Zhang, Wei-Qiang Gao, Yihong Sun, Ze-Guang Han
BACKGROUND AND OBJECTIVES: IRTKS functions as a novel regulator of tumour suppressor p53; however, the role of IRTKS in pathogenesis of gastric cancer is unclear. DESIGN: We used immunohistochemistry to detect IRTKS levels in 527 human gastric cancer specimens. We generated both IRTKS-deficient and p53-deficient mice to observe survival time of these mice and to isolate mouse embryonic fibroblasts (MEFs) for evaluating in vivo tumorigenicity. Co-immunoprecipitation was used to study the interaction among p53, MDM2 and IRTKS, as well as the ubiquitination of p53...
June 24, 2017: Gut
https://www.readbyqxmd.com/read/28647594/chronic-mild-stress-impairs-latent-inhibition-and-induces-region-specific-neural-activation-in-chl1-deficient-mice-a-mouse-model-of-schizophrenia
#8
Mona Buhusi, Daniel Obray, Bret Guercio, Mitchell J Bartlett, Catalin V Buhusi
Schizophrenia is a neurodevelopmental disorder characterized by abnormal processing of information and attentional deficits. Schizophrenia has a high genetic component but is precipitated by environmental factors, as proposed by the 'two-hit' theory of schizophrenia. Here we compared latent inhibition as a measure of learning and attention, in CHL1-deficient mice, an animal model of schizophrenia, and their wild-type littermates, under no-stress and chronic mild stress conditions. All unstressed mice as well as the stressed wild-type mice showed latent inhibition...
June 21, 2017: Behavioural Brain Research
https://www.readbyqxmd.com/read/28647593/features-of-emotional-and-social-behavioral-phenotypes-of-calsyntenin2-knockout-mice
#9
S V Ranneva, K S Pavlov, A V Gromova, T G Amstislavskaya, T V Lipina
Calsyntenin-2 (Clstn2) is the synaptic protein that belongs to the super family of cadherins, playing an important role in learning and memory. We recently reported that Clstn2 knockout mice (Clstn2-KO) have a deficit of GABAergic interneurons coupled with hyperactivity and deficient spatial memory. Given, that impaired functioning of GABA receptors is linked to several psychopathologies, including anxiety and autism, we sought to further characterize Clstn2-KO mice with respect to emotional and social behavior...
June 21, 2017: Behavioural Brain Research
https://www.readbyqxmd.com/read/28647590/differences-in-the-coronal-proteome-acquired-by-particles-depositing-in-the-lungs-of-asthmatic-versus-healthy-humans
#10
Abhinav Kumar, Elif Melis Bicer, Paul Pfeffer, Marco P Monopoli, Kenneth A Dawson, Jonny Eriksson, Katarina Edwards, Steven Lynham, Matthew Arno, Annelie F Behndig, Anders Blomberg, Graham Somers, Dave Hassall, Lea Ann Dailey, Ben Forbes, Ian Mudway
Most inhaled nanomedicines in development are for the treatment of lung disease, yet little is known about their interaction with the respiratory tract lining fluids (RTLF). Here we combined the use of nano-silica, as a protein concentrator, with label-free snapshot proteomics (LC-MS/MS; key findings confirmed by ELISA) to generate a quantitative profile of the RTLF proteome and provided insight into the evolved corona; information that may be used in future to improve drug targeting to the lungs by inhaled medicines...
June 21, 2017: Nanomedicine: Nanotechnology, Biology, and Medicine
https://www.readbyqxmd.com/read/28647554/conditional-loss-of-progranulin-in-neurons-is-not-sufficient-to-cause-neuronal-ceroid-lipofuscinosis-like-neuropathology-in-mice
#11
Terri L Petkau, Jake Blanco, Blair R Leavitt
Progranulin deficiency due to heterozygous null mutations in the GRN gene is a common cause of familial frontotemporal lobar degeneration (FTLD), while homozygous loss-of-function GRN mutations cause neuronal ceroid lipofuscinosis (NCL). Aged progranulin-knockout mice display highly exaggerated lipofuscinosis, microgliosis, and astrogliosis, as well as mild cell loss in specific brain regions. Progranulin is a secreted glycoprotein expressed in both neurons and microglia, but not astrocytes, in the brain. We generated conditional progranulin-knockout mice that lack progranulin in nestin-expressing cells (Nes-cKO mice), which include most neurons as well as astrocytes...
June 21, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28647492/eszopiclone-for-persistent-negative-symptoms-in-schizophrenia-an-unintended-n-of-1-study
#12
Urvakhsh Meherwan Mehta, Vinutha Ravishankar, Jagadisha Thirthalli
Persistent negative and cognitive symptoms in patients with schizophrenia pose a significant challenge to clinicians. Being a heterogeneous cluster of symptoms with potentially distinct underlying pathogenesis, it is important to examine novel therapies based on emerging neurobiological evidence. Eszopiclone is known to enhance the deficient sleep spindles that are related to impairments in learning and memory in schizophrenia. In this report we highlight the potential utility of eszopiclone in treating persistent negative symptoms in a patient with chronic schizophrenia...
June 21, 2017: Schizophrenia Research
https://www.readbyqxmd.com/read/28647472/-acute-fatty-liver-of-pregnancy-and-mitochondrial-fatty-acid-oxidation-consequences-for-the-offspring
#13
B Anon, C Barbet, C Gendrot, F Labarthe, Y Bacq
Acute fatty liver of pregnancy (AFLP) is a rare liver disease unique to pregnancy that can lead to acute liver failure. The prognosis, initially often fatal for both mother and child, has been improved by prompt delivery. The diagnosis should be highly suspected if the mother presents epigastric pain, nausea and/or vomiting, or polyuria-polydipsia in the third trimester of pregnancy. AFLP has been found associated with a genetic deficiency of fatty acid beta-oxidation, which may cause sudden death in infancy...
June 21, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28647437/inhibitory-control-is-not-lateralized-in-parkinson-s-patients
#14
G Mirabella, M Fragola, G Giannini, N Modugno, Daniel Lakens
Parkinson's disease (PD) is often characterized by asymmetrical symptoms, which are more prominent on the side of the body contralateral to the most extensively affected brain hemisphere. Therefore, lateralized PD presents an opportunity to examine the effects of asymmetric subcortical dopamine deficiencies on cognitive functioning. As it has been hypothesized that inhibitory control relies upon a right-lateralized pathway, we tested whether left-dominant PD (LPD) patients suffered from a more severe deficit in this key executive function than right-dominant PD patients (RPD)...
June 21, 2017: Neuropsychologia
https://www.readbyqxmd.com/read/28647375/type-i-interferon-signalling-through-ifnar1-plays-a-deleterious-role-in-the-outcome-after-stroke
#15
Moses Zhang, Catherine E Downes, Connie H Y Wong, Kate M Brody, Pedro L Guio-Agulair, Jodee Gould, Robert Ates, Paul J Hertzog, Juliet M Taylor, Peter J Crack
Neuroinflammation contributes significantly to the pathophysiology of stroke. Here we test the hypothesis that the type I interferon receptor (IFNAR1) plays a critical role in neural injury after stroke by regulating the resultant pro-inflammatory environment. Wild-type and IFNAR1(-/-) primary murine neurons and glia were exposed to oxygen glucose deprivation (OGD) and cell viability was assessed. Transient cerebral ischemia/reperfusion injury was induced by mid-cerebral artery occlusion (MCAO) in wild-type and IFNAR1(-/-) and IFNAR2(-/-) mice in vivo, and infarct size, and molecular parameters measured...
June 21, 2017: Neurochemistry International
https://www.readbyqxmd.com/read/28647369/synthesis-of-cytochrome-c-oxidase-1-sco1-inhibits-insulin-sensitivity-by-decreasing-copper-levels-in-adipocytes
#16
Xiang-Bo Wei, Liang Guo, Yang Liu, Shui-Rong Zhou, Yuan Liu, Xin Dou, Shao-Yue Du, Meng Ding, Wan-Qiu Peng, Shu-Wen Qian, Hai-Yan Huang, Qi-Qun Tang
Dysregulation of insulin signaling leads to type 2 diabetes mellitus (T2DM) and other metabolic disorders. Obesity is an important contributor to insulin resistance, and although the understanding of this relationship has improved in recent years, the mechanism of obesity-induced insulin resistance is not completely understood. Disorders of copper metabolism tend to accompany the development of obesity, which increases the risk of insulin resistance. Synthesis of cytochrome c oxidase 1 (SCO1) functions in the assembly of cytochrome c oxidase (COX) and cellular copper homeostasis...
June 21, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28647349/inhibitor-of-apoptosis-proteins-iaps-limit-ripk1-mediated-skin-inflammation
#17
H Anderton, J A Rickard, G A Varigos, N Lalaoui, J Silke
Inhibitor of Apoptosis Proteins (IAPs) are critical regulators of cell death and survival pathways. Mice lacking cellular IAP (cIAP) 1 and either cIAP2 or X-linked IAP (XIAP) die in utero, and myeloid lineage-specific deletion of all IAPs causes sterile inflammation, but their role in the skin is unknown. We generated epidermal-specific IAPs deficient mice and found that combined genetic deletion of cIAP1 in keratinocytes and ubiquitous cIAP2 deletion (cIap1(EKO/EKO).cIap2(-/-)) caused profound skin inflammation and keratinocyte death, lethal by post-partum day 10...
June 21, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28647345/cutaneous-nod2-expression-regulates-the-skin-microbiome-and-wound-healing-in-a-murine-model
#18
Helen Williams, Rachel A Crompton, Helen A Thomason, Laura Campbell, Gurdeep Singh, Andrew J McBain, Sheena M Cruickshank, Matthew J Hardman
The skin microbiome exists in dynamic equilibrium with the host but when the skin is compromised, bacteria can colonise the wound and impair wound healing. Thus the interplay between normal skin-microbial interactions versus pathogenic-microbial interactions in wound repair is important. Bacteria are recognised by innate host pattern recognition receptors (PRRs) and we previously demonstrated an important role for the PRR NOD2 (nucleotide-binding oligomerisation domains-containing protein 2) in skin wound repair...
June 21, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28647301/factors-affecting-hematopoietic-stem-cell-mobilization-and-apheresis-in-allogeneic-donors-the-role-of-iron-status
#19
Zübeyde Nur Özkurt, Leyla Batmaz, Zeynep Arzu Yeğin, Çiğdem İlhan
Infused CD34 cell count has a significant impact on transplant outcome. In this retrospective study, we aimed to analyze the impact of donor iron parameters on peripheral blood stem cell (PBSC) collection. A total of 303 related donors were included in the study. The mobilization regimen, recombinant G-CSF, was given for four consecutive days. A CD34(+) cell count below 2×10(6)/kg was defined as mobilization failure which was demonstrated in 23 donors (7.6%). Mobilization failure was more frequent in female donors than male donors (13...
June 3, 2017: Transfusion and Apheresis Science
https://www.readbyqxmd.com/read/28647132/mutations-in-s-adenosylhomocysteine-hydrolase-ahcy-affect-its-nucleocytoplasmic-distribution-and-capability-to-interact-with-s-adenosylhomocysteine-hydrolase-like-1-protein
#20
Ivana Grbeša, Alon Kalo, Robert Belužić, Lucija Kovačević, Adriana Lepur, Filip Rokić, Hodaya Hochberg, Itamar Kanter, Vesna Simunović, Pau Marc Muńoz-Torres, Yaron Shav-Tal, Oliver Vugrek
S-adenosylhomocysteine hydrolase (AHCY) is thought to be located at the sites of ongoing AdoMet-dependent methylation, presumably in the cell nucleus. Endogenous AHCY is located both in cytoplasm and the nucleus. Little is known regarding mechanisms that drive its subcellular distribution, and even less is known on how mutations causing AHCY deficiency affect its intracellular dynamics. Using fluorescence microscopy and GFP-tagged AHCY constructs we show significant differences in the intensity ratio between nuclei and cytoplasm for mutant proteins when compared with wild type AHCY...
May 13, 2017: European Journal of Cell Biology
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