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https://www.readbyqxmd.com/read/29786852/evolution-of-lobar-abnormalities-of-cerebral-glucose-metabolism-in-41-children-with-drug-resistant-epilepsy
#1
Tuhina Govil-Dalela, Ajay Kumar, Michael E Behen, Harry T Chugani, Csaba Juhász
OBJECTIVE: We analyzed long-term changes of lobar glucose metabolic abnormalities in relation to clinical seizure variables and development in a large group of children with medically refractory epilepsy. METHODS: Forty-one children (25 males) with drug-resistant epilepsy had a baseline positron emission tomography (PET) scan at a median age of 4.7 years; the scans were repeated after a median of 4.3 years. Children with progressive neurological disorders or space-occupying lesion-related epilepsy and those who had undergone epilepsy surgery were excluded...
May 22, 2018: Epilepsia
https://www.readbyqxmd.com/read/29786782/preclinical-impact-of-high-dose-intermittent-antiangiogenic-tyrosine-kinase-inhibitor-pazopanib-in-intrinsically-resistant-tumor-models
#2
Elaine Reguera-Nuñez, Shan Man, Ping Xu, Robert S Kerbel
Antiangiogenic tyrosine kinase inhibitors (TKIs) target vascular endothelial growth factor receptors and other receptor tyrosine kinases. As a result of toxicity, the clinical failures or the modest benefits associated with antiangiogenic TKI therapy may be related in some cases to suboptimal drug dosing and scheduling, thereby facilitating resistance. Most antiangiogenic TKIs, including pazopanib, are administered on a continuous daily basis. Here, instead, we evaluated the impact of increasing the dose and administering the drug intermittently...
May 21, 2018: Angiogenesis
https://www.readbyqxmd.com/read/29786773/survival-analysis-according-to-period-and-analysis-of-the-factors-influencing-changes-in-survival-in-patients-with-recurrent-breast-cancer-a-large-scale-single-center-study
#3
Sae Byul Lee, Guiyun Sohn, Jisun Kim, Il Yong Chung, Jong Won Lee, Hee Jeong Kim, Beom Seok Ko, Byung Ho Son, Sei-Hyun Ahn
BACKGROUND: We performed this study to analyze changing survival patterns regarding recurrent breast cancer in Korea during the last 16 years (1993-2008). We also sought to determine factors possibly influencing outcomes and changes over time in the duration of survival after recurrence. METHODS: We retrospectively analyzed 9671 patients with breast cancer treated between January 1993 and December 2008, comparing the periods 1993-2002 and 2003-2008.We retrospectively reviewed the collected database including the age at diagnosis, clinical manifestations, pathology report, surgical methods, types of adjuvant treatment modalities, type of recurrence, and follow-up period...
May 21, 2018: Breast Cancer: the Journal of the Japanese Breast Cancer Society
https://www.readbyqxmd.com/read/29786745/histone-modifications-in-fatty-acid-synthase-modulated-by-carbohydrate-responsive-element-binding-protein-are-associated-with-non%C3%A2-alcoholic-fatty-liver-disease
#4
Can Cai, Huihong Yu, Guangming Huang, Xuan Du, Xiaoqing Yu, Youping Zhou, Wei Shen
Non‑alcoholic fatty liver disease (NAFLD) is a manifestation of metabolic syndrome in the liver and is closely associated with diabetes; however, its pathogenesis remains to be elucidated. Carbohydrate responsive element binding protein (ChREBP), the hub of glucolipid metabolism, regulates the induction of fatty acid synthase (FASN), the key enzyme of de novo lipogenesis, by directly binding to carbohydrate response element (ChoRE) in its promoter. Investigations of histone modifications on NAFLD remain in their infancy...
May 22, 2018: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/29786645/skeletal-muscle-micrornas-as-key-players-in-the-pathogenesis-of-amyotrophic-lateral-sclerosis
#5
REVIEW
Lorena Di Pietro, Wanda Lattanzi, Camilla Bernardini
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder, for which, to date, no effective treatment to ameliorate the clinical manifestations is available. The long-standing view of ALS as affecting only motor neurons has been challenged by the finding that the skeletal muscle plays an active role in the disease pathogenesis and can be a valuable target for therapeutic strategies. In recent years, non-coding RNAs, including microRNAs, have emerged as important molecules that play key roles in several cellular mechanisms involved in the pathogenic mechanisms underlying various human conditions...
May 22, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29786640/vitamin-d-in-vascular-calcification-a-double-edged-sword
#6
REVIEW
Jeffrey Wang, Jimmy J Zhou, Graham R Robertson, Vincent W Lee
Vascular calcification (VC) as a manifestation of perturbed mineral balance, is associated with aging, diabetes and kidney dysfunction, as well as poorer patient outcomes. Due to the current limited understanding of the pathophysiology of vascular calcification, the development of effective preventative and therapeutic strategies remains a significant clinical challenge. Recent evidence suggests that traditional risk factors for cardiovascular disease, such as left ventricular hypertrophy and dyslipidaemia, fail to account for clinical observations of vascular calcification...
May 22, 2018: Nutrients
https://www.readbyqxmd.com/read/29786595/-genetically-determined-abnormal-electrical-activity-of-the-brain-and-the-heart
#7
Iwona Mańka-Gaca, Beata Łabuz-Roszak, Agnieszka Machowska-Majchrzak
Mutations leading to disorders within ion (mainly potassium and sodium) channels, have different degrees of expression in the brain and in the heart, which can cause simultaneous occurrence of disorders in both organs. This is manifested by the occurrence of epileptic seizures and cardiac electrical disturbances, further exacerbated by stimulation of autonomic structures within the central nervous system. In all patients with unclear paroxysmal disorders, and in those with unexplained sudden cardiac death, consideration should be given to the possibility of occurrence of genetically determined disorders in the ion channels...
2018: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/29786572/dysadipokinemia-in-patients-with-gout-and-its-association-with-the-disease-activity
#8
Inna V Orlova, Mykola A Stanislavchuk, Iryna P Gunko
OBJECTIVE: Introduction: In recent years, the role of adipokines in the development of rheumatic diseases has been a pressing issue. The available data suggest the dysadipokinemia in patients with rheumatoid arthritis, osteoarthritis and psoriatic arthritis. However, there is no data on changes in the levels of adipokines in patients with gout and their association with the activity of inflammatory process. The aim was to study the levels of adipokines in gout patients and evaluate their association with the disease activity...
2018: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/29786003/spontaneous-subconjunctival-abscess-in-congenital-lamellar-ichthyosis
#9
Shivanand C Bubanale, Linda Maria Genoveva De Piedade Sequeira, Bhagyajyothi B Kurbet
Congenital lamellar ichthyosis is an autosomal recessive, heterogeneous disorder presenting at birth with generalized skin involvement. The most common ophthalmic manifestation noted is bilateral ectropion of the lower eyelids. A 1-month-old female neonate, the second born of a nonconsanguineous marriage, presented with 4 days' history of redness, discharge, and swelling in the right eye. There was severe right upper eyelid ectropion, conjunctival injection, chemosis, a subconjunctival mass on the temporal bulbar conjunctiva spontaneously draining pus and corneal haze...
June 2018: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/29785970/phenotypic-and-molecular-characteristics-of-androgen-insensitivity-syndrome-patients
#10
Shi-Min Yuan, Ya-Nan Zhang, Juan Du, Wen Li, Chao-Feng Tu, Lan-Lan Meng, Ge Lin, Guang-Xiu Lu, Yue-Qiu Tan
Androgen insensitivity syndrome (AIS), an X-linked recessive genetic disorder of sex development, is caused by mutations in the androgen receptor (AR) gene, and is characterized by partial or complete inability of specific tissues to respond to androgens in individuals with the 46,XY karyotype. This study aimed to investigate AR gene mutations and to characterize genotype-phenotype correlations. Ten patients from unrelated families, aged 2-31 years, were recruited in the study. Based on karyotype, altered hormone profile, and clinical manifestations, nine patients were preliminarily diagnosed with complete AIS and one with partial AIS...
May 18, 2018: Asian Journal of Andrology
https://www.readbyqxmd.com/read/29785959/common-carotid-artery-diameter-and-risk-of-cardiovascular-events-and-mortality-pooled-analyses-of-four-cohort-studies
#11
Sanaz Sedaghat, Thomas T van Sloten, Stéphane Laurent, Gérard M London, Bruno Pannier, Maryam Kavousi, Francesco Mattace-Raso, Oscar H Franco, Pierre Boutouyrie, M Arfan Ikram, Coen D A Stehouwer
Carotid arterial diameter enlargement is a manifestation of arterial remodeling and may be a risk factor for cardiovascular disease (CVD). We evaluated the association between carotid artery diameter and risk of stroke, coronary heart disease, CVD, and all-cause mortality and explored whether the associations could be explained by processes involved in arterial remodeling, that is, blood pressure-related media thickening, arterial stiffness, arterial wall stress, and atherosclerosis. We included 4887 participants (mean age 67±9 years; 54% women) from 4 cohort studies: Rotterdam Study, NEPHROTEST, Hoorn Study, and a study by Blacher et al...
May 21, 2018: Hypertension
https://www.readbyqxmd.com/read/29785937/the-effect-of-enzyme-replacement-therapy-on-clinical-outcomes-in-paediatric-patients-with-fabry-disease-a-systematic-literature-review-by-a-european-panel-of-experts
#12
REVIEW
Marco Spada, Ralf Baron, Perry M Elliott, Bruno Falissard, Max J Hilz, Lorenzo Monserrat, Camilla Tøndel, Anna Tylki-Szymańska, Christoph Wanner, Dominique P Germain
BACKGROUND: Fabry disease is caused by a deficiency of the lysosomal enzyme α-galactosidase, resulting in progressive accumulation of globotriaosylceramide (GL-3). The disease can manifest early during childhood and adolescence. Enzyme replacement therapy (ERT) with recombinant human α-galactosidase is the first specific treatment for Fabry disease and has been available in Europe since 2001. This paper presents the findings of a systematic literature review of clinical outcomes with ERT in paediatric patients with Fabry disease...
April 26, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29785886/treatment-of-homozygous-familial-hypercholesterolaemia-in-paediatric-patients-a-monocentric-experience
#13
Paola S Buonuomo, Marina Macchiaiolo, Giovanna Leone, Paola Valente, Gerarda Mastrogiorgio, Maria Gnazzo, Ippolita Rana, Michaela V Gonfiantini, Maria G Gagliardi, Francesca Romano, Andrea Bartuli
Background Homozygous familial hypercholesterolaemia is a rare life-threatening disease characterized by markedly elevated low-density lipoprotein cholesterol (LDL-C) concentrations and accelerated atherosclerosis. The presence of double gene defects in the LDL-Receptor, either the same defect (homozygous) or two different LDL-raising mutations (compound heterozygotes) or other variants, identify the homozygous phenotype (HopFH). Apheresis is a procedure in which plasma is separated from red blood cells before the physical removal of LDL-C or the LDL-C is directly removed from whole blood...
January 1, 2018: European Journal of Preventive Cardiology
https://www.readbyqxmd.com/read/29785865/an-oesophageal-spring
#14
Elisabetta Calamelli, Tomasso Gargano, Sandra Brusa, Paolo Bottau, Mario Lima, Marcello Lanari
Oesophageal foreign bodies (OFBs) are a relatively common emergency in young children. OFBs are complicated by significant morbidity and mortality because their ingestion often occurs without witnesses, leading to a delay in diagnosis and treatment. We report an occult OFB in an 11-month-old infant who initially presented without any specific respiratory symptoms, mimicking a respiratory infection. Worsening of the patient's cough, which did not show any improvement, despite treatment, and progressive onset of gastrointestinal manifestations (dysphagia, vomiting, and drooling) led to the diagnosis of an OFB (metallic spring)...
January 1, 2018: Journal of International Medical Research
https://www.readbyqxmd.com/read/29785752/skin-lesions-over-the-pocket-area-that-may-mimic-cardiac-implantable-electronic-device-infection-a-case-series
#15
Panagiotis Korantzopoulos, Sofia Plakoutsi, Elizabeth Florou, Aris Bechlioulis
BACKGROUND: The early and correct diagnosis of cardiac implantable electronic device (CIED) infections is critical given that early aggressive treatment with complete removal of the system along with antimicrobial therapy dramatically improves outcomes. Pocket infection manifested by local signs of inflammation is the most common form of CIED infections. Conditions mimicking pocket infection have been described in the literature. These include various types of malignancy and rarely allergic reactions/contact dermatitis to pacemaker compounds...
May 21, 2018: Pacing and Clinical Electrophysiology: PACE
https://www.readbyqxmd.com/read/29785678/heterotopic-pancreas-without-meckel-s-diverticulum-in-children-as-unique-cause-of-gastrointestinal-bleeding-think-about-it
#16
Mélodie Juricic, Damipi Yempab Djagbare, Marion Carmassi, Nicoleta Panait, Alice Faure, Oumar NDour, Gabriel NGom, Thierry Merrot
Ectopic pancreas also known as heterotopic pancreas (HP) is a rare congenital anomaly, mainly found as incidental finding during autopsy or abdominal exploration for an other condition. Incidence rate is probably underestimated as patients are mostly asymptomatic; otherwise, it is capable of producing symptoms depending on its location, size, often appearing in the 4th-to-6th decades. Complications such as inflammation, obstruction, bleeding, and malignancy degeneration must be considered. Pediatrics cases are very rare, generally concerning HP within Meckel's diverticulum, manifesting by gastrointestinal bleeding and intussusception...
May 21, 2018: Surgical and Radiologic Anatomy: SRA
https://www.readbyqxmd.com/read/29785627/chemical-communication-and-reproduction-partitioning-in-social-wasps
#17
REVIEW
Francesca Romana Dani, Stefano Turillazzi
Social wasps encompass species displaying diverse social organization regarding colony cycle, nest foundation, caste differences (from none to significant dimorphism) and number of reproductive queens. Current phylogenetic data suggests that sociality occured independently in the subfamily Stenogastrinae and in the Polistinae+Vespinae clade. In most species, including those with the simplest social organization, colony reproduction is monopolised by a single or few females. Since their nest mates can also develop ovaries and lay eggs, dominant females must somehow inhibit them from reproducing...
May 22, 2018: Journal of Chemical Ecology
https://www.readbyqxmd.com/read/29785613/neuroinfections-caused-by-fungi
#18
REVIEW
Katarzyna Góralska, Joanna Blaszkowska, Magdalena Dzikowiec
BACKGROUND: Fungal infections of the central nervous system (FIs-CNS) have become significantly more common over the past 2 decades. Invasion of the CNS largely depends on the immune status of the host and the virulence of the fungal strain. Infections with fungi cause a significant morbidity in immunocompromised hosts, and the involvement of the CNS may lead to fatal consequences. METHODS: One hundred and thirty-five articles on fungal neuroinfection in PubMed, Google Scholar, and Cochrane databases were selected for review using the following search words: "fungi and CNS mycoses", CNS fungal infections", "fungal brain infections", " fungal cerebritis", fungal meningitis", "diagnostics of fungal infections", and "treatment of CNS fungal infections"...
May 21, 2018: Infection
https://www.readbyqxmd.com/read/29785541/new-observations-in-tumor-cell-plasticity-mutational-profiling-in-a-case-of-metastatic-melanoma-with-biphasic-sarcomatoid-transdifferentiation
#19
Niels J Rupp, Markus Rechsteiner, Sandra N Freiberger, Daniela Lenggenhager, Mirjana Urosevic, Irene A Burger, Elisabeth J Rushing, Daniela Mihic-Probst
We describe a highly unusual case of metastatic melanoma in a 61-year-old female that manifested as a single groin lymph node metastasis accompanied by two distinct, subcutaneous sarcomatoid tumors on the same leg, without evidence of a primary tumor. Characterization encompassed extensive immunohistochemical staining as well as next-generation sequencing (NGS). The lymph node metastasis showed obvious features of melanoma. The two subcutaneous lesions, however, were morphologically and immunohistochemically consistent with high-grade myxofibrosarcoma and soft tissue mixed tumor, respectively...
May 21, 2018: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/29785464/contribution-of-cochlear-compression-to-discrimination-of-rippled-spectra-in-on-and-low-frequency-noise
#20
Olga N Milekhina, Dmitry I Nechaev, Alexander Ya Supin
The goal of the study was to assess cochlear compression when rippled-spectrum signals are perceived in noise assuming that the noise might produce both masking and confounding effects. In normal listeners, discrimination between rippled signals with and without ripple phase reversals was assessed in background noise. The signals were band-limited (0.5 oct at a - 6-dB level) rippled noise centered at 2 kHz, with a ripple density of 3.5 oct-1 . The noise (masker) was band-limited nonrippled noise centered at either 2 kHz (on-frequency masker) or 1 kHz (low-frequency masker)...
May 21, 2018: Journal of the Association for Research in Otolaryngology: JARO
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