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https://www.readbyqxmd.com/read/28325022/comparing-glucose-and-insulin-data-from-the-two-hour-oral-glucose-tolerance-test-in-metabolic-syndrome-subjects-and-marathon-runners
#1
Miguel Altuve, Gilberto Perpinan, Erika Severeyn, Sara Wong
Glucose is the main energy source of the body's cells and is essential for normal metabolism. Two pancreatic hormones, insulin and glucagon, are involved in glucose home-ostasis. Alteration in the plasma glucose and insulin concentrations could lead to distinct symptoms and diseases, ranging from mental function impairment to coma and even death. Type 2 diabetes, insulin resistance and metabolic syndrome are typical examples of abnormal glucose metabolism that increase the risk for cardiovascular disease and mortality...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28324986/electrocardiographic-waveforms-fitness-check-device-technique-for-sudden-cardiac-death-risk-screening
#2
O J Escalona, M Mendoza
A novel cardiac health device technique development for reliable, non-invasive and cost-effective heart screening in preventive cardiovascular healthcare is presented. In particular, identification of apparently healthy individuals involved in sports activities (particularly in the young, age <; 35 years) who may be at-risk of sudden-cardiac-death (SCD) is mainly focused here. Nevertheless, the same device technique may be prospectively extended for detecting cardiovascular abnormalities in children and adolescents with type1-diabetes, and also in detecting patients with Brugada syndrome...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28324640/cytogenetics-and-comorbidity-predict-outcomes-in-older-myelodysplastic-syndrome-patients-after-allogenic-stem-cell-transplantation-using-reduced-intensity-conditioning
#3
Orhan Kemal Yucel, Rima M Saliba, Gabriella Rondon, Sairah Ahmed, Amin Alousi, Qaiser Bashir, Stefan O Ciurea, Uday Popat, Isa Khouri, David Marin, Katy Rezvani, Partow Kebriaei, Elizabeth J Shpall, Richard E Champlin, Betül Oran
BACKGROUND: Allogeneic hematopoietic stem cell transplantation (allo-HSCT) is the only treatment with a curative potential for myelodysplastic syndrome (MDS) patients. Allo-HSCT has substantial risks, particularly in the elderly, and its role for older MDS patients has yet to be defined. METHODS: We analyzed 88 MDS patients aged ≥ 60 years with allo-HSCT after reduced intensity conditioning regimens over the last decade. The study cohort had high risk features; 47 of 88 (53...
March 21, 2017: Cancer
https://www.readbyqxmd.com/read/28324264/reverse-locked-in-syndrome
#4
Pooja Raibagkar, Ram V Chavali, Tamara B Kaplan, Jennifer A Kim, Meaghan V Nitka, Sherry H-Y Chou, Brian L Edlow
BACKGROUND: Basilar artery occlusion can cause locked-in syndrome, which is characterized by quadriplegia, anarthria, and limited communication via eye movements. Here, we describe an uncommon stroke syndrome associated with endovascular recanalization of the top of the basilar artery: "reverse locked-in syndrome." METHODS: We report the case of a patient with atypical neurological deficits caused by acute ischemic stroke of the midbrain tegmentum. We perform neuroanatomic localization of the patient's infarcts by mapping the magnetic resonance imaging (MRI) data onto a brainstem atlas...
March 21, 2017: Neurocritical Care
https://www.readbyqxmd.com/read/28324239/mtdna-maintenance-defects-syndromes-and-genes
#5
Carlo Viscomi, Massimo Zeviani
A large group of mitochondrial disorders, ranging from early-onset pediatric encephalopathic syndromes to late-onset myopathy with chronic progressive external ophthalmoplegia (CPEOs), are inherited as Mendelian disorders characterized by disturbed mitochondrial DNA (mtDNA) maintenance. These errors of nuclear-mitochondrial intergenomic signaling may lead to mtDNA depletion, accumulation of mtDNA multiple deletions, or both, in critical tissues. The genes involved encode proteins belonging to at least three pathways: mtDNA replication and maintenance, nucleotide supply and balance, and mitochondrial dynamics and quality control...
March 21, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28324200/prevalence-and-characterization-of-non-sicca-onset-primary-sj%C3%A3-gren-syndrome-with-interstitial-lung-involvement
#6
Manfredi Andreina, Sebastiani Marco, Cerri Stefania, Cassone Giulia, Bellini Pietrantonio, Della Casa Giovanni, Luppi Fabrizio, Ferri Clodoveo
Primary Sjögren syndrome (pSS)-related interstitial lung disease (ILD) involved about 10-20% of patients. In 20% of cases, ILD can be diagnosed before pSS; anyway, few studies have investigated the frequency of ILD as the first clinically relevant manifestation of pSS, generally referred to retrospective studies. Aim of our prospective study was to describe prevalence, clinical, serological, and instrumental features of non-sicca onset pSS patients with interstitial lung involvement. During a period of 48 months, all consecutive patients diagnosed as pSS were enrolled...
March 21, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28324185/diameters-and-bone-thickness-at-the-margin-of-the-foramen-magnum-in-dry-skulls-from-pediatric-population-a-cross-sectional-anatomical-study
#7
Marina Raguz, Pero Hrabac, Dora Sedmak, Miroslav Gjurasin, Natasa Kovacic
PURPOSE: The purpose of the study was to estimate the size and bone thickness at the margin of the foramen magnum in a pediatric population. METHODS: Sixty occipital bone specimens from the collection of macerated skulls at the Department of Anatomy, University of Zagreb, were examined and measured using a vernier scale/caliper. For the purpose of analysis, specimens were divided into two age groups: 1-6 years and 7-18 years of age (before and after the fusion of ossification centers in the occipital bone)...
March 21, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28324054/ccdc141-mutations-in-idiopathic-hypogonadotropic-hypogonadism
#8
Ihsan Turan, B Ian Hutchins, Bulent Hacihamdioglu, L Damla Kotan, Fatih Gurbuz, Ayca Ulubay, Eda Mengen, Bilgin Yuksel, Susan Wray, A Kemal Topaloglu
Context: GnRH neurons originate outside the central nervous system in the olfactory placode and migrate into the CNS, becoming integral components of the hypothalamic-pituitary-gonadal axis. Failure of this migration can lead to Idiopathic Hypogonadotropic Hypogonadism (IHH)/Kallmann Syndrome (KS). We have previously shown that CCDC141 knockdown leads to impaired migration of GnRH neurons but not of olfactory receptor neurons. Objective: The aim of this study was to further describe the phenotype and prevalence of CCDC141 mutations in IHH/KS...
January 23, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28324053/hepatic-insulin-resistance-and-altered-gluconeogenic-pathway-in-premature-baboons
#9
Lisa McGill-Vargas, Amalia Gastaldelli, Hanyu Liang, Diana Anzueto Guerra, Teresa Johnson-Pais, Steven Seidner, Donald McCurnin, Giovanna Muscogiuri, Ralph DeFronzo, Nicolas Musi, Cynthia Blanco
Premature infants have altered glucose regulation early in life and increased risk for diabetes in adulthood. Although prematurity leads to an increased risk of diabetes and metabolic syndrome in adult life, the role of hepatic glucose regulation and adaptation to an early extra-uterine environment in preterm infants remain unknown. The purpose of this study was to investigate developmental differences in glucose metabolism, hepatic protein content and gene expression of key insulin signaling/gluconeogenic molecules...
January 17, 2017: Endocrinology
https://www.readbyqxmd.com/read/28324042/interleukin-1-antagonism-decreases-cortisol-levels-in-obese-individuals
#10
Sandrine Andrea Urwyler, Philipp Schuetz, Fahim Ebrahimi, Marc Y Donath, Mirjam Christ-Crain
Context: Increased cortisol levels in obesity may contribute to the associated metabolic syndrome. In obesity, the activated innate immune system leads to increased interleukin (IL)-1β, which is known to stimulate the release of adrenocorticotropin hormone (ACTH). Objective: We hypothesised that in obesity IL-1 antagonism would result in downregulation of the hypothalamo-pituitary-adrenal (HPA) axis, leading to decreased cortisol levels. Design and participants: In this prospective intervention study we included 73 patients with obesity (BMI >30kg/m2) and at least one additional feature of the metabolic syndrome...
February 20, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28324041/line1-cpg-dna-hypomethylation-in-granulosa-cells-and-blood-leukocytes-is-associated-with-pcos-and-related-traits
#11
Pooja Sagvekar, Vijay Mangoli, Sadhana Desai, Anushree Patil, Srabani Mukherjee
CONTEXT: Altered global DNA methylation is indicative of epigenomic instability concerning chronic disease-states. Investigating its incidence and association with polycystic ovary syndrome (PCOS) is essential towards understanding the etiopathogenesis of this disorder. OBJECTIVES: To assess, global DNA methylation differences in peripheral blood leukocytes (PBLs) and cumulus granulosa cells (CGCs) of PCOS and controls and their association with PCOS and its traits...
January 9, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28324040/cord-blood-adipocyte-fatty-acid-binding-protein-levels-correlate-with-gestational-age-and-birth-weight-in-neonates
#12
Kyoung Eun Joung, Sule Umit Cataltepe, Zoe Michael, Helen Christou, Christos S Mantzoros
Context: Infants born small for gestational age (SGA) have increased risk for obesity and metabolic syndrome in future life, but the underlying mechanisms are not fully elucidated. Adipocyte fatty acid binding protein, is an adipokine that has been implicated in modulation of insulin sensitivity and lipid metabolism. Higher plasma AFABP levels are associated with increased risk of metabolic syndrome and cardiovascular morbidity in adults. Alterations in AFABP levels during fetal growth have not been characterized...
January 31, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28324016/cardiorespiratory-fitness-and-adiposity-as-determinants-of-metabolic-health-pooled-analysis-of-two-twin-cohorts
#13
Sakari Jukarainen, René Holst, Christine Dalgård, Päivi Piirilä, Jesper Lundbom, Antti Hakkarainen, Nina Lundbom, Aila Rissanen, Jaakko Kaprio, Kirsten Ohm Kyvik, Thorkild I A Sørensen, Kirsi H Pietiläinen
Context: The joint effects of cardiorespiratory fitness and body composition on metabolic health are not well known. Objective: To examine the associations of cardiorespiratory fitness (CRF), fat free mass index (FFMI) and fat mass index (FMI) with metabolic health in individual twins and controlling for genetic and shared environmental effects by studying monozygotic intrapair differences. Design, setting & participants: Two cross-sectional samples of healthy adult monozygotic and dizygotic twins were drawn from population-based Danish and Finnish national twin registries (n=996 and n=309)...
January 23, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28324015/paternally-inherited-dlk1-deletion-associated-with-familial-central-precocious-puberty
#14
Andrew Dauber, Marina Cunha-Silva, Delanie B Macedo, Vinicius N Brito, Ana Paula Abreu, Stephanie A Roberts, Luciana R Montenegro, Melissa Andrew, Andrew Kirby, Matthew T Weirauch, Guillaume Labilloy, Danielle S Bessa, Rona S Carroll, Dakota C Jacobs, Patrick E Chappell, Berenice B Mendonca, David Haig, Ursula B Kaiser, Ana Claudia Latronico
Context: Central precocious puberty (CPP) results from premature activation of the hypothalamic-pituitary-gonadal axis. Few genetic causes of CPP have been identified with the most common being mutations in the paternally expressed imprinted gene MKRN3. Objective: To identify the genetic etiology of CPP in a large multigenerational family. Design: Linkage analysis followed by whole genome sequencing was performed in a family with 5 female members with nonsyndromic CPP...
January 27, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28324009/whole-exome-sequencing-for-diagnosis-of-turner-syndrome-towards-next-generation-sequencing-and-newborn-screening
#15
David R Murdock, Frank X Donovan, Settara C Chandrasekharappa, Nicole Banks, Carolyn Bondy, Maximilian Muenke, Paul Kruszka
Context, Objectives: Turner syndrome (TS) is due to a complete or partial loss of an X chromosome in females and is not currently part of newborn screening. Diagnosis is often delayed resulting in missed crucial diagnostic and therapeutic opportunities. This study sought to determine if whole-exome sequencing (WES) as part of a potential newborn screening program could be used to diagnose TS. Design, Setting, Patients: Karyotype, chromosomal microarray, and WES were performed on women with TS (n=27) enrolled in the Personalized Genomic Research study at the National Institutes of Health...
January 24, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28323992/quantification-of-thyroid-cancer-and-multinodular-goiter-risk-in-the-dicer1-syndrome-a-family-based-cohort-study
#16
Nicholas E Khan, Andrew J Bauer, Kris Ann P Schultz, Leslie Doros, Rosamma M Decastro, Alexander Ling, Maya B Lodish, Laura A Harney, Ron G Kase, Ann G Carr, Christopher T Rossi, Amanda Field, Anne K Harris, Gretchen M Williams, Louis P Dehner, Yoav H Messinger, D Ashley Hill, Douglas R Stewart
Context: The risk of thyroid cancer and multinodular goiter (MNG) in the DICER1 syndrome, a rare tumor-predisposition disorder, is unknown. Objective: To quantify the risk of thyroid cancer and MNG in individuals with the DICER1 syndrome. Design: Family-based cohort study. Setting: National Institutes of Health (NIH) Clinical Center (CC). Participants: The National Cancer Institute DICER1 syndrome cohort consisted of 145 individuals with a DICER1 germline mutation and 135 family controls from 48 families...
February 2, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28323971/n-acetylcysteine-prevents-low-t3-syndrome-and-attenuates-cardiac-dysfunction-in-a-male-rat-model-of-myocardial-infarction
#17
Tatiana Ederich Lehnen, Marcus Vinicius Santos, Adrio Lima, Ana Luiza Maia, Simone Magagnin Wajner
Nonthyroidal illness syndrome (NTIS) affects patients with myocardial infarction (MI). Oxidative stress has been implicated as a causative factor of NTIS, and reversed via N-acetylcysteine (NAC). Male Wistar rats submitted to left anterior coronary artery occlusion received NAC or placebo. Decreases in T3 levels were noted in MI-placebo at 10 and 28 days post-MI, but not in MI-NAC. Groups exhibited similar infarct areas whereas MI-NAC exhibited higher ejection fraction (EF) than MI-placebo. Left ventricular systolic (LVSd) and diastolic (LVDd) diameters were also preserved in MI-NAC, but not in MI-placebo...
February 17, 2017: Endocrinology
https://www.readbyqxmd.com/read/28323963/an-antibody-to-notch2-reverses-the-osteopenic-phenotype-of-hajdu-cheney-mutant-male-mice
#18
Ernesto Canalis, Archana Sanjay, Jungeun Yu, Stefano Zanotti
Notch receptors play a central role in skeletal development and bone remodeling. Hajdu Cheney Syndrome (HCS), a disease characterized by osteoporosis and fractures, is associated with gain-of-NOTCH2 function mutations. To study HCS, we created a mouse model harboring a point 6955C>T mutation in the Notch2 locus upstream of the proline (P), glutamic acid (E), serine (S) and threonine (T) domain leading to a Q2319X change at the amino acid level. Notch2Q2319X heterozygous mutants exhibited cancellous and cortical bone osteopenia...
January 31, 2017: Endocrinology
https://www.readbyqxmd.com/read/28323936/the-steroid-metabolome-in-the-isolated-ovarian-follicle-and-its-response-to-androgen-exposure-and-antagonism
#19
Marie Lebbe, Angela E Taylor, Jenny A Visser, Jackson Kirkman-Brown, Teresa K Woodruff, Wiebke Arlt
The ovarian follicle is a major site of steroidogenesis, crucially required for normal ovarian function and female reproduction. Our understanding of androgen synthesis and metabolism in the developing follicle has been limited by sensitivity and specificity issues of previously used assays. Here we used liquid chromatography-tandem mass spectrometry to map the stage-dependent endogenous steroid metabolome in an encapsulated in vitro follicle growth system, from murine secondary through antral follicles. Furthermore, follicles were cultured in the presence of androgen precursors, non-aromatizable active androgen and androgen receptor (AR) antagonist to assess effects on steroidogenesis and follicle development...
February 23, 2017: Endocrinology
https://www.readbyqxmd.com/read/28323926/psychological-distress-is-more-prevalent-in-fertile-age-and-premenopausal-women-with-pcos-symptoms-15-yr-follow-up
#20
Salla Karjula, Laure Morin-Papunen, Juha Auvinen, Aimo Ruokonen, Katri Puukka, Stephen Franks, Marjo-Riitta Järvelin, Juha S Tapanainen, Jari Jokelainen, Jouko Miettunen, Terhi T Piltonen
Context: Polycystic ovary syndrome (PCOS) is associated with increased psychological distress; obesity and hyperandrogenism being suggested as key promoters. Objectives: To investigate the prevalence of anxiety/depression and their coexistence in women with PCOS/PCOS symptoms at ages 31 and 46. The roles of obesity, hyperandrogenism and awareness of PCOS on psychological distress were also assessed. Design: Population based follow-up. Setting: Northern Finland Birth Cohort 1966 with 15-year follow-up...
February 27, 2017: Journal of Clinical Endocrinology and Metabolism
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