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https://www.readbyqxmd.com/read/27922243/late-diagnosed-phenylketonuria-in-an-eight-year-old-boy-with-dyslexia-and-attention-deficit-hyperactivity-disorder
#1
Yılmaz Yıldız, Ali Dursun, Ayşegül Tokatlı, Turgay Coşkun, Hatice Serap Sivri
Phenylketonuria, previously a common cause of severe intellectual disability, is a metabolic disorder now promptly diagnosed and effectively treated thanks to newborn screening programs. Here, we report a male patient presenting with dyslexia and attention-deficit hyperactivity disorder, who was diagnosed with mild phenylketonuria at eight years of age. Earlier recognition and treatment before the establishment of irreversible brain damage would have resulted in better neurobehavioural outcomes. Classical phenylketonuria and milder phenotypes of phenylalanine hydroxylase deficiency need to be considered in the differential diagnosis of all cognitive and behavioural problems of unknown cause...
2016: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/27922143/attitudes-and-concerns-of-diabetic-patients-towards-bariatric-surgery-as-treatment-of-diabetes
#2
Hui Wen Chua, Hui Jun Zhou, Chin Meng Khoo, Asim Shabbir, Davide Lomanto, Jimmy By So
INTRODUCTION: Bariatric surgery is increasingly recognised as an effective treatment for type 2 diabetes that significantly improves glycaemic control, even achieving remission. This study examined perceptions and concerns of diabetic patients towards bariatric surgery as a treatment option for diabetes. MATERIALS AND METHODS: A total of 150 patients were recruited from a specialised diabetic outpatient clinic and completed a questionnaire (items were rated on a Likert scale from slightly important [lowest score of 1] to extremely important [maximum score of 5])...
November 2016: Annals of the Academy of Medicine, Singapore
https://www.readbyqxmd.com/read/27922054/first-insight-into-the-proteome-landscape-of-the-porcine-short-posterior-ciliary-arteries-key-signalling-pathways-maintaining-physiologic-functions
#3
Caroline Manicam, Natarajan Perumal, Norbert Pfeiffer, Franz H Grus, Adrian Gericke
Short posterior ciliary arteries (sPCA) provide the major blood supply to the optic nerve head. Emerging evidence has linked structural and functional anomalies of sPCA to the pathogenesis of several ocular disorders that cause varying degrees of visual loss, particularly anterior ischaemic optic neuropathy and glaucoma. Although the functional relevance of this vascular bed is well-recognized, the proteome of sPCA remains uncharacterized. Since the porcine ocular system closely resembles that of the human's and is increasingly employed in translational ophthalmic research, this study characterized the proteome of porcine sPCA employing the mass spectrometry-based proteomics strategy...
December 6, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27922005/wrn-regulates-pathway-choice-between-classical-and-alternative-non-homologous-end-joining
#4
Raghavendra A Shamanna, Huiming Lu, Jessica K de Freitas, Jane Tian, Deborah L Croteau, Vilhelm A Bohr
Werner syndrome (WS) is an accelerated ageing disorder with genomic instability caused by WRN protein deficiency. Many features seen in WS can be explained by the diverse functions of WRN in DNA metabolism. However, the origin of the large genomic deletions and telomere fusions are not yet understood. Here, we report that WRN regulates the pathway choice between classical (c)- and alternative (alt)-nonhomologous end joining (NHEJ) during DNA double-strand break (DSB) repair. It promotes c-NHEJ via helicase and exonuclease activities and inhibits alt-NHEJ using non-enzymatic functions...
December 6, 2016: Nature Communications
https://www.readbyqxmd.com/read/27921437/-adaptation-of-adipose-tissue-to-weight-reduction-energy-restricted-diet-in-obese-individuals
#5
Vladimír Štich
Obesity is associated with a number of metabolic disorders that lead to the development of type 2 diabetes, hyperlipidemia and ultimately cardiovascular diseases. An important role in the pathogenesis of metabolic disorders accompanying obesity is probably played by the alterations of adipose tissue characteristics: metabolic, endocrine and immune functions. The key component of obesity treatment, the weight-reduction energy-restricted diet, leads not only to the reduction of weight (specifically fat mass), but also to correction of obesity accompanying metabolic disorders...
2016: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/27921426/-gestational-diabetes-mellitus
#6
Hana Krejčí
The present generation of women of childbearing age more frequently suffer from overweight, obesity, initial as well as fully established metabolic syndrome, which together with postponing motherhood until the third decade in life plays an important role in the increasing incidence of gestational diabetes (GDM) that currently affects about 1/5 of pregnant women. However the causal link between diabetes during pregnancy and metabolic diseases in the whole population is mutual. By way of epigenetic changes, maternal diabetes unfavourably programmes metabolism of the offspring, who tend to transfer the disorder to the next generations...
2016: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/27921351/the-effect-of-combined-inositol-hexakisphosphate-and-inositol-supplement-in-streptozotocin-induced-type-2-diabetic-rats
#7
Shadae R Foster, Felix O Omoruyi, Juan Bustamante, Ruby L A Lindo, Lowell L Dilworth
Inositol hexakisphosphate (IP6) and inositol both regulate insulin secretion, but their combined use in the management of diabetes deserves investigation. The combined effects of IP6 and inositol supplementation were investigated in streptozotocin-induced type 2 diabetic rats. The following groups of rats were studied for 8 weeks: non-diabetic control, non-diabetic high-fat diet control, diabetic untreated, diabetic rats treated with the combination of IP6 and inositol (650 mg/kg bw) and diabetic rats treated with glibenclamide (10 mg/kg bw)...
December 6, 2016: International Journal of Experimental Pathology
https://www.readbyqxmd.com/read/27921198/-metabolic-surgery-or-conservative-measures-as-therapy-of-obese-type%C3%A2-2%C3%A2-diabetics
#8
REVIEW
Udo Jahn, Thomas Schubert, Sibylle Schlepp, Heinz Jürgen Deuber
After bariatric surgery there are some favourable effects on comorbidities of obesity as glucose and lipid metabolism besides weight loss. Therefore surgical measures targeting at improvement of such metabolic disorders especially diabetes type 2 has been called "metabolic surgery". The complexity of its underlying metabolic mechanisms is not yet clear, but restriction of energy and weight loss (maintenance) seem to be the cornerstones.Risks of these procedures which are drawn of the established methods of bariatric surgery are reported to be relatively low in qualified centers...
December 5, 2016: Wiener Medizinische Wochenschrift
https://www.readbyqxmd.com/read/27921045/clinical-scenario-of-the-metabolic-syndrome
#9
REVIEW
Swantje Brede, Georg Serfling, Johanna Klement, Sebastian M Schmid, Hendrik Lehnert
The term metabolic syndrome (MeS) refers to a cluster of associated symptoms composed of impaired fasting glucose, abdominal obesity, hypertension, and dyslipidemia. MeS is associated with an increased risk of cardiovascular and diabetes-associated morbidity and mortality. The increased amount of visceral fat together with a chronic inflammatory state predisposes to the development of arteriosclerosis. Furthermore, insulin resistance (IR) and dyslipidemia are associated with fatty liver disease. In addition, MeS is linked to non-cardiovascular diseases such as cancer as well as psychiatric or endocrine disorders...
October 2016: Visceral Medicine
https://www.readbyqxmd.com/read/27920806/hereditary-multiple-exostoses-a-review-of-clinical-appearance-and-metabolic-pattern
#10
REVIEW
Giovanni Beltrami, Gabriele Ristori, Guido Scoccianti, Angela Tamburini, Rodolfo Capanna
Hereditary multiple exostoses (HME) is an inherited genetic condition characterized by the presence of multiple exostoses (osteochondromas). MHE is a relatively rare autosomal dominant disorder, mainly caused by loss of function mutations in two genes: exostosin-1 (EXT1) and exostosin-2 (EXT2). These genes are linked to heparan sulfate (HS) synthesis, but the specific molecular mechanism leading to the disruption of the cartilage structure and the consequent exostoses formation is still not resolved. The aim of this paper is to encounter the main aspects of HME reviewing the literature, in order to improve clinical features and evolution, and the metabolic-pathogenetic mechanisms underlying...
May 2016: Clinical Cases in Mineral and Bone Metabolism
https://www.readbyqxmd.com/read/27920545/thyroid-dysfunction-among-type-2-diabetic-female-egyptian-subjects
#11
Ibrahim N Elebrashy, Amr El Meligi, Laila Rashed, Randa F Salam, Elham Youssef, Shaimaa A Fathy
PURPOSE: High prevalence of thyroid disorders is more common in type 1 diabetes compared to type 2 diabetes, due to associated autoimmunity. Hypothyroidism is the most common disorder. The objective was to assess the prevalence of thyroid dysfunction among type 2 diabetic Egyptian females and to find the correlation between metabolic syndrome components and autoimmune thyroid dysfunction. MATERIALS AND METHODS: The study included 62 type 2 diabetic Egyptian females and 27 sex- and age-matched controls...
2016: Therapeutics and Clinical Risk Management
https://www.readbyqxmd.com/read/27920511/relationships-between-fto-rs9939609-mc4r-rs17782313-and-ppar%C3%AE-rs1801282-polymorphisms-and-the-occurrence-of-selected-metabolic-and-hormonal-disorders-in-middle-aged-and-elderly-men-a-preliminary-study
#12
Iwona Rotter, Karolina Skonieczna-Żydecka, Danuta Kosik-Bogacka, Grażyna Adler, Aleksandra Rył, Maria Laszczyńska
PURPOSE: Metabolic disorders, including MetS, obesity, and lipid disorders, may be related to genetic factors. Metabolic disorders are associated with decreased TS levels in aging men. The aim of this study was to evaluate the relationship between FTO rs9939609, MC4R rs17782313, and PPARγ rs1801282 polymorphisms and the presence of MetS and its components, the concurrent lipid disorders, as well as sex hormone concentrations. SUBJECTS AND METHODS: This study involved 272 men of Caucasian descent aged 50-75 years...
2016: Clinical Interventions in Aging
https://www.readbyqxmd.com/read/27920274/adipose-fatty-acid-binding-protein-promotes-saturated-fatty-acid-induced-macrophage-cell-death-through-enhancing-ceramide-production
#13
Yuwen Zhang, Enyu Rao, Jun Zeng, Jiaqing Hao, Yanwen Sun, Shujun Liu, Edward R Sauter, David A Bernlohr, Margot P Cleary, Jill Suttles, Bing Li
Macrophages play a critical role in obesity-associated chronic inflammation and disorders. However, the molecular mechanisms underlying the response of macrophages to elevated fatty acids (FAs) and their contribution to metabolic inflammation in obesity remain to be fully elucidated. In this article, we report a new mechanism by which dietary FAs, in particular, saturated FAs (sFAs), are able to directly trigger macrophage cell death. We demonstrated that excess sFAs, but not unsaturated FAs, induced the production of cytotoxic ceramides (Cers) in macrophage cell lines...
December 5, 2016: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/27920259/hormone-sensitive-lipase-deficiency-alters-gene-expression-and-cholesterol-content-of-mouse-testis
#14
Feng Wang, Zheng Chen, Xiaofang Ren, Ye Tian, Fucheng Wang, Chao Liu, Pengcheng Jin, Zongyue Li, Feixiong Zhang, Baochang Zhu
Hormone-sensitive lipase-knockout (HSL-/-) mice exhibit azoospermia for unclear reasons. To explore the basis of sterility, we performed the following three experiments. First, HSL protein distribution in the testis was determined. Next, transcriptome analyses were performed on the testes of three experimental groups. Finally, the fatty acid and cholesterol levels in the testes with three different genotypes studied were determined. We found that the HSL protein was present from spermatocyte cells to mature sperm acrosomes in wild-type (HSL+/+) testes...
February 2017: Reproduction: the Official Journal of the Society for the Study of Fertility
https://www.readbyqxmd.com/read/27919711/epigenetic-dysfunctional-diseases-and-therapy-for-infection-and-inflammation
#15
REVIEW
Saheli Samanta, Sheeja Rajasingh, Thuy Cao, Buddhadeb Dawn, Johnson Rajasingh
Even though the discovery of the term 'epigenetics' was in the 1940s, it has recently become one of the most promising and expanding fields to unravel the gene expression pattern in several diseases. The most well studied example is cancer, but other diseases like metabolic disorders, autism, or inflammation-associated diseases such as lung injury, autoimmune disease, asthma, and type-2 diabetes display aberrant gene expression and epigenetic regulation during their occurrence. The change in the epigenetic pattern of a gene may also alter gene function because of a change in the DNA status...
December 2, 2016: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/27919695/metabolomics-identifies-perturbations-in-amino-acid-metabolism-in-the-prefrontal-cortex-of-the-learned-helplessness-rat-model-of-depression
#16
Xinyu Zhou, Lanxiang Liu, Yuqing Zhang, Juncai Pu, Lining Yang, Chanjuan Zhou, Shuai Yuan, Hanping Zhang, Peng Xie
Major depressive disorder is a serious psychiatric condition associated with high rates of suicide and is a leading cause of health burden worldwide. However, the underlying molecular mechanisms of major depression are still essentially unclear. In our study, a non-targeted gas chromatography-mass spectrometry-based metabolomics approach was used to investigate metabolic changes in the prefrontal cortex of the learned helplessness rat model of depression. Body-weight measurements and behavioral tests including the active escape test, sucrose preference test, forced swimming test, elevated plus-maze and open field test were used to assess changes in the behavioral spectrum after inescapable footshock stress...
December 2, 2016: Neuroscience
https://www.readbyqxmd.com/read/27919349/familial-combined-hyperlipidemia-and-hyperlipoprotein-a-as-phenotypic-mimics-of-familial-hypercholesterolemia-frequencies-associations-and-predictions
#17
Katrina L Ellis, Jing Pang, Dick C Chan, Amanda J Hooper, Damon A Bell, John R Burnett, Gerald F Watts
BACKGROUND: A significant proportion of index cases presenting with phenotypic familial hypercholesterolemia (FH) are not found to have a pathogenic mutation and may have other inherited conditions. OBJECTIVES: Familial combined hyperlipidemia (FCHL) and elevated lipoprotein(a) [Lp(a)] may mimic FH, but the frequency and correlates of these disorders among mutation-negative FH patients have yet to be established. METHODS: The frequency of FCHL and elevated Lp(a) was investigated in 206 FH mutation-negative index cases attending a specialist lipid clinic...
November 2016: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/27919345/familial-defective-apolipoprotein-b-100-a%C3%A2-review
#18
REVIEW
Lars H Andersen, André R Miserez, Zahid Ahmad, Rolf L Andersen
Familial defective apolipoprotein B-100 (FDB) is an autosomal dominant genetic disorder of lipid metabolism associated with hyperlipidemia and elevated risk for atherosclerosis. FDB is caused by mutations in APOB reducing the binding affinity between apolipoprotein B-100 and the low-density lipoprotein receptor. Population studies suggest that approximately 0.1% of Northern Europeans and US Caucasians carries the R3500Q variant in APOB most commonly associated with FDB; in addition, the APOB R3500 W variant is known to make a significant contribution to familial hypercholesterolemia (FH) among East Asians...
November 2016: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/27918953/cross-talk-between-innate-cytokines-and-the-pancreatic-polypeptide-family-in-acute-pancreatitis
#19
Sayali A Pendharkar, Ruma G Singh, Maxim S Petrov
BACKGROUND AND AIM: Low-grade inflammation persists in patients with acute pancreatitis (AP) after hospital discharge, and is linked to metabolic disorders. Neuropeptide Y (NPY) is well recognized as an important mediator of inflammation in these patients but the role of the other two structurally similar peptides, pancreatic polypeptide (PP) and peptide YY (PYY), in inflammation has been sparsely investigated. The aim was to investigate the association between PYY, PP, NPY and circulating levels of innate cytokines in patients after AP...
December 2, 2016: Cytokine
https://www.readbyqxmd.com/read/27918446/metabolomics-and-its-application-in-the-development-of-discovering-biomarkers-for-osteoporosis-research
#20
REVIEW
Huanhuan Lv, Feng Jiang, Daogang Guan, Cheng Lu, Baosheng Guo, Chileung Chan, Songlin Peng, Baoqin Liu, Wenwei Guo, Hailong Zhu, Xuegong Xu, Aiping Lu, Ge Zhang
Osteoporosis is a progressive skeletal disorder characterized by low bone mass and increased risk of fracture in later life. The incidence and costs associated with treating osteoporosis cause heavy socio-economic burden. Currently, the diagnosis of osteoporosis mainly depends on bone mineral density and bone turnover markers. However, these indexes are not sensitive and accurate enough to reflect the osteoporosis progression. Metabolomics offers the potential for a holistic approach for clinical diagnoses and treatment, as well as understanding of the pathological mechanism of osteoporosis...
December 2, 2016: International Journal of Molecular Sciences
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