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https://www.readbyqxmd.com/read/28724177/natural-molecules-for-the-therapy-of-hyperandrogenism-and-metabolic-disorders-in-pcos
#1
V Cappelli, M C Musacchio, A Bulfoni, G Morgante, V De Leo
OBJECTIVE: Polycystic ovary syndrome (PCOS) is the most common endocrinopathy of women of reproductive age and a complex endocrine condition, due to its heterogeneity and uncertainty about its etiology. However, PCOS is also associated with other metabolic abnormalities such as insulin resistance, impaired glucose tolerance, and diabetes. There are few medications that are approved for the most common symptoms of PCOS, leading to the off-label use of medications that were approved for other indications...
June 2017: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/28724173/a-comparative-study-between-myo-inositol-and-metformin-in-the-treatment-of-insulin-resistant-women
#2
K Nas, L Tűű
OBJECTIVE: Insulin resistance (IR) is a common disorder, which can impair female fertility and is characterized by phenotypic heterogeneity. Life-style treatment and insulin sensitizers are commonly used in the management of women with IR and consequent hyperinsulinemia, in order to restore the normal endocrinological and clinical parameters. Metformin (MET) is considered one of the first approaches to this pathology but new evidences are showing promising results using myo-inositol (MYO) in the management of this pathology...
June 2017: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/28723918/heterogeneity-of-p53-dependent-genomic-responses-following-ethanol-exposure-in-a-developmental-mouse-model-of-fetal-alcohol-spectrum-disorder
#3
Maria Camargo Moreno, Sandra M Mooney, Frank A Middleton
Prenatal ethanol exposure can produce structural and functional deficits in the brain and result in Fetal Alcohol Spectrum Disorder (FASD). In rodent models acute exposure to a high concentration of alcohol causes increased apoptosis in the developing brain. A single causal molecular switch that signals for this increase in apoptosis has yet to be identified. The protein p53 has been suggested to play a pivotal role in enabling cells to engage in pro-apoptotic processes, and thus figures prominently as a hub molecule in the intracellular cascade of responses elicited by alcohol exposure...
2017: PloS One
https://www.readbyqxmd.com/read/28722670/follicular-metabolic-changes-and-effects-on-oocyte-quality-in-polycystic-ovary-syndrome-patients
#4
Yan Zhang, Lingyan Liu, Tai-Lang Yin, Jing Yang, Cheng-Liang Xiong
Polycystic ovary syndrome (PCOS) is a common complex and heterogeneous disorder, affecting up to 10% women at reproductive age. It causes three fourth of the ovulatory infertility and PCOS patients often give poor IVF quality. Although some metabolic profiles have been investigated in PCOS patient sera and urine, the follicular fluid, providing fruitful biochemical information about oocyte environment during development has been ignored. In this work, based on NMR metabolomics approach, metabolic profile of follicular fluid of PCOS patients has been explored and compared with healthy controls...
July 6, 2017: Oncotarget
https://www.readbyqxmd.com/read/28721822/opioid-antagonists-for-pharmacological-treatment-of-gambling-disorder-are-they-relevant
#5
Caroline Victorri-Vigneau, Andrew Spiers, Pascal Caillet, Mélanie Bruneau, Gaëlle Challet-Bouju, Marie Grall-Bronnec
Background To date, no drugs have been approved for gambling disorder. Numerous publications have described the value of opioid antagonists. Indeed, the mesocorticolimbic dopaminergic pathway has been suggested as the underlying cause of reward-seeking behaviour, and it is modulated by the opioid system. Objective This study aims to evaluate the relevance of opioid antagonists for treating GD. Method A systematic literature review was conducted. A search of the PubMed electronic database, PsycINFO and the Cochrane Systematic Review Database without any limits was performed...
July 18, 2017: Current Neuropharmacology
https://www.readbyqxmd.com/read/28721681/genetic-characterization-and-disease-mechanism-of-retinitis-pigmentosa-current-scenario
#6
REVIEW
Muhammad Umar Ali, Muhammad Saif Ur Rahman, Jiang Cao, Ping Xi Yuan
Retinitis pigmentosa is a group of genetically transmitted disorders affecting 1 in 3000-8000 individual people worldwide ultimately affecting the quality of life. Retinitis pigmentosa is characterized as a heterogeneous genetic disorder which leads by progressive devolution of the retina leading to a progressive visual loss. It can occur in syndromic (with Usher syndrome and Bardet-Biedl syndrome) as well as non-syndromic nature. The mode of inheritance can be X-linked, autosomal dominant or autosomal recessive manner...
August 2017: 3 Biotech
https://www.readbyqxmd.com/read/28721335/investigation-of-newborns-with-abnormal-results-in-a-newborn-screening-program-for-four-lysosomal-storage-diseases-in-brazil
#7
Heydy Bravo, Eurico Camargo Neto, Jaqueline Schulte, Jamile Pereira, Claudio Sampaio Filho, Fernanda Bittencourt, Fernanda Sebastião, Fernanda Bender, Ana Paula Scholz de Magalhães, Régis Guidobono, Franciele Barbosa Trapp, Kristiane Michelin-Tirelli, Carolina F M Souza, Diana Rojas Málaga, Gabriela Pasqualim, Ana Carolina Brusius-Facchin, Roberto Giugliani
Lysosomal storage diseases (LSDs) are genetic disorders, clinically heterogeneous, mainly caused by defects in genes encoding lysosomal enzymes that degrade macromolecules. Several LSDs already have specific therapies that may improve clinical outcomes, especially if introduced early in life. With this aim, screening methods have been established and newborn screening (NBS) for some LSDs has been developed. Such programs should include additional procedures for the confirmation (or not) of the cases that had an abnormal result in the initial screening...
September 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28721306/role-of-conventional-magnetic-resonance-imaging-in-the-screening-of-epilepsy-with-structural-abnormalities-a-pictorial-essay
#8
REVIEW
Xu Zhao, Zhiqiang Zhou, Wenzhen Zhu, Hongbing Xiang
Epilepsy is a chronic neurological disease with serious impact on patients and society. The causes of epilepsy comprise a heterogeneous group of disorders, rendering epilepsy diagnoses rather difficult and challenging. The primary role of MRI is to locate and define the probable anatomic epileptogenic lesions. In the developing countries, where functional MRI (fMRI) is not popular, conventional MRI (cMRI) becomes especially important in epilepsy diagnoses. Apart from that, an experienced radiologist can increase the diagnostic yield of MRI to epileptogenic lesions...
2017: American Journal of Nuclear Medicine and Molecular Imaging
https://www.readbyqxmd.com/read/28721092/hemicrania-continua-clinical-review-diagnosis-and-management
#9
REVIEW
Sanjay Prakash, Payal Patel
Hemicrania continua (HC) is an indomethacin-responsive primary headache disorder which is currently classified under the heading of trigeminal autonomic cephalalgias (TACs). It is a highly misdiagnosed and underreported primary headache. The pooled mean delay of diagnosis of HC is 8.0 ± 7.2 years. It is not rare. We noted more than 1000 cases in the literature. It represents 1.7% of total headache patients attending headache or neurology clinic. Just like other TACs, it is characterized by strictly unilateral pain in the trigeminal distribution, cranial autonomic features in the same area and agitation during exacerbations/attacks...
2017: Journal of Pain Research
https://www.readbyqxmd.com/read/28720891/whole-exome-sequencing-reveals-inherited-and-de-novo-variants-in-autism-spectrum-disorder-a-trio-study-from-saudi-families
#10
Bashayer Al-Mubarak, Mohamed Abouelhoda, Aisha Omar, Hesham AlDhalaan, Mohammed Aldosari, Michael Nester, Hussain A Alshamrani, Mohamed El-Kalioby, Ewa Goljan, Renad Albar, Shazia Subhani, Asma Tahir, Sultana Asfahani, Alaa Eskandrani, Ahmed Almusaiab, Amna Magrashi, Jameela Shinwari, Dorota Monies, Nada Al Tassan
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with genetic and clinical heterogeneity. The interplay of de novo and inherited rare variants has been suspected in the development of ASD. Here, we applied whole exome sequencing (WES) on 19 trios from singleton Saudi families with ASD. We developed an analysis pipeline that allows capturing both de novo and inherited rare variants predicted to be deleterious. A total of 47 unique rare variants were detected in 17 trios including 38 which are newly discovered...
July 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28719906/a-common-ancestral-asn242ser-mutation-in-tmem67-identified-in-multiple-iranian-families-with-joubert-syndrome
#11
MohammadReza Dehghani, Majid Mojarad, Ehsan Ghayoor Karimiani, Mohammad Yahya Vahidi Mehrjardi, Afsaneh Sahebalzamani, Farah Ashrafzadeh, Mehran Beiraghi Toosi, Atiyeh Eslahi, Najmeh Ahangari, Seyed Mojtaba Yassini, Afsaneh Hassanbeigi, Azam Rasti, Seyed Mehdi Kalantar, Reza Maroofian
BACKGROUND: Joubert syndrome (JS) is a clinically and genetically heterogeneous group of rare neurodevelopmental disorder characterised by peculiar midbrain-hindbrain malformation, known as the "molar tooth" sign. JS can manifest a broad range of signs and symptoms. The most common features of JS are hypotonia, ataxia, developmental delay/intellectual disability, abnormal eye movements, and neonatal breathing abnormalities. To date, 29 genes have been shown to cause JS. METHODS: We employed whole-genome single nucleotide polymorphism genotyping in a group of Iranian families with JS and Sanger sequencing of a known mutation associated with JS located in a single homozygous regions shared by affected members of the families...
July 19, 2017: Public Health Genomics
https://www.readbyqxmd.com/read/28719577/physical-limits-to-biomechanical-sensing-in-disordered-fibre-networks
#12
Farzan Beroz, Louise M Jawerth, Stefan Münster, David A Weitz, Chase P Broedersz, Ned S Wingreen
Cells actively probe and respond to the stiffness of their surroundings. Since mechanosensory cells in connective tissue are surrounded by a disordered network of biopolymers, their in vivo mechanical environment can be extremely heterogeneous. Here we investigate how this heterogeneity impacts mechanosensing by modelling the cell as an idealized local stiffness sensor inside a disordered fibre network. For all types of networks we study, including experimentally-imaged collagen and fibrin architectures, we find that measurements applied at different points yield a strikingly broad range of local stiffnesses, spanning roughly two decades...
July 18, 2017: Nature Communications
https://www.readbyqxmd.com/read/28719515/anaesthetic-management-of-patients-with-myopathies
#13
Mark Schieren, Jerome Defosse, Andreas Böhmer, Frank Wappler, Mark U Gerbershagen
: The anaesthetic management of patients with myopathies is challenging. Considering the low incidence and heterogeneity of these disorders, most anaesthetists are unfamiliar with key symptoms, associated co-morbidities and implications for anaesthesia. The pre-anaesthetic assessment aims at the detection of potentially undiagnosed myopathic patients and, in case of known or suspected muscular disease, on the quantification of disease progression. Ancillary testing (e.g. echocardiography, ECG, lung function testing etc...
July 15, 2017: European Journal of Anaesthesiology
https://www.readbyqxmd.com/read/28718506/felbamate-as-an-add-on-therapy-for-refractory-partial-epilepsy
#14
REVIEW
Li Li Shi, JianCheng Dong, HengJian Ni, JinSong Geng, Taixiang Wu
BACKGROUND: This review is an update of a previously published review in the Cochrane Database of Systematic Reviews (Issue 7, 2014) on 'Felbamate as an add-on therapy for refractory epilepsy'. Epilepsy is a chronic and disabling neurologic disorder, affecting approximately 1% of the population. Up to 30% of people with epilepsy have seizures that are resistant to currently available drugs. Felbamate is one of the second-generation antiepileptic drugs and we have assessed its effects as an add-on therapy to standard drugs in this review...
July 18, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28716919/decoupling-of-size-and-shape-fluctuations-in-heteropolymeric-sequences-reconciles-discrepancies-in-saxs-vs-fret-measurements
#15
Gustavo Fuertes, Niccolò Banterle, Kiersten M Ruff, Aritra Chowdhury, Davide Mercadante, Christine Koehler, Michael Kachala, Gemma Estrada Girona, Sigrid Milles, Ankur Mishra, Patrick R Onck, Frauke Gräter, Santiago Esteban-Martín, Rohit V Pappu, Dmitri I Svergun, Edward A Lemke
Unfolded states of proteins and native states of intrinsically disordered proteins (IDPs) populate heterogeneous conformational ensembles in solution. The average sizes of these heterogeneous systems, quantified by the radius of gyration (RG ), can be measured by small-angle X-ray scattering (SAXS). Another parameter, the mean dye-to-dye distance (RE ) for proteins with fluorescently labeled termini, can be estimated using single-molecule Förster resonance energy transfer (smFRET). A number of studies have reported inconsistencies in inferences drawn from the two sets of measurements for the dimensions of unfolded proteins and IDPs in the absence of chemical denaturants...
July 17, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28716860/novel-mechanisms-of-piezo1-dysfunction-in-hereditary-xerocytosis
#16
Edyta Glogowska, Eve R Schneider, Yelena Maksimova, Vincent P Schulz, Kimberly Lezon-Geyda, John Wu, Kottayam Radhakrishnan, Siobán B Keel, Donald Mahoney, Alison M Freidmann, Rachel A Altura, Elena O Gracheva, Sviatoslav N Bagriantsev, Theodosia A Kalfa, Patrick G Gallagher
Mutations in PIEZO1 are the primary cause of hereditary xerocytosis, a clinically heterogeneous, dominantly inherited disorder of erythrocyte dehydration. We utilized next generation sequencing-based techniques to identify PIEZO1 mutations in individuals from 9 kindreds referred with suspected HX and/or undiagnosed congenital hemolytic anemia. Mutations were primarily found in the highly conserved, COOH-terminal pore region domain. Several mutations were novel and demonstrated ethnic specificity. We characterized these mutations using genomic, bioinformatic, cell biology, and physiology-based functional assays...
July 17, 2017: Blood
https://www.readbyqxmd.com/read/28716727/systematic-review-and-meta-analysis-links-autism-and-toxic-metals-and-highlights-the-impact-of-country-development-status-higher-blood-and-erythrocyte-levels-for-mercury-and-lead-and-higher-hair-antimony-cadmium-lead-and-mercury
#17
REVIEW
Amene Saghazadeh, Nima Rezaei
BACKGROUND: Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental disorder that affects cognitive and higher cognitive functions. Increasing prevalence of ASD and high rates of related comorbidities has caused serious health loss and placed an onerous burden on the supporting families, caregivers, and health care services. Heavy metals are among environmental factors that may contribute to ASD. However, due to inconsistencies across studies, it is still hard to explain the association between ASD and toxic metals...
July 14, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/28716600/the-utility-of-nafld-fibrosis-score-for-prediction-of-mortality-among-patients-with-nonalcoholic-fatty-liver-disease-a-systematic-review-and-meta-analysis-of-cohort-study
#18
Veeravich Jaruvongvanich, Karn Wijarnpreecha, Patompong Ungprasert
BACKGROUND: Nonalcoholic fatty liver disease (NAFLD) is a common liver disorder worldwide. Several noninvasive diagnostic scoring systems have been developed to determine the severity of liver fibrosis and to predict long-term outcome of patients with NAFLD in lieu of liver biopsy. We conducted this systematic review and meta-analysis to investigate the role of NAFLD fibrosis score (NFS) for prediction of mortality from NAFLD. METHODS: MEDLINE and EMBASE databases were searched through October 2016 for studies that investigated the association between high NFS and mortality...
July 14, 2017: Clinics and Research in Hepatology and Gastroenterology
https://www.readbyqxmd.com/read/28716262/new-genetic-causes-for-complex-hereditary-spastic-paraplegia
#19
Paulo Victor Sgobbi de Souza, Thiago Bortholin, Renan Braido Dias, Marco Antônio Troccoli Chieia, Stênio Burlin, Fernando George Monteiro Naylor, Wladimir Bocca Vieira de Rezende Pinto, Acary Souza Bulle Oliveira
INTRODUCTION: Hereditary Spastic Paraplegia (HSP) represents a complex and heterogeneous group of rare neurodegenerative disorders that share a common clinical feature of weakness and lower limb spasticity that can occur alone or in combination with a constellation of other neurological or systemic signs and symptoms. Although the core clinical feature of weakness and lower limb spasticity is virtually universal, the genetic heterogeneity is almost uncountable with more than 70 genetic forms described so far...
August 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28714225/leveraging-splice-affecting-variant-predictors-and-a-minigene-validation-system-to-identify-mendelian-disease-causing-variants-amongst-exon-captured-variants-of-uncertain-significance
#20
Zachry T Soens, Justin Branch, Shijing Wu, Zhisheng Yuan, Yumei Li, Hui Li, Keqing Wang, Mingchu Xu, Lavan Rajan, Fabiana L Motta, Renata T Simões, Irma Lopez-Solache, Radwan Ajlan, David G Birch, Peiquan Zhao, Fernanda B Porto, Juliana Sallum, Robert K Koenekoop, Ruifang Sui, Rui Chen
The genetic heterogeneity of Mendelian disorders results in a significant proportion of patients that are unable to be assigned a confident molecular diagnosis after conventional exon sequencing and variant interpretation. Here we evaluated how many patients with an inherited retinal disease (IRD) have variants of uncertain significance (VUS's) that are disrupting splicing in a known IRD gene by means other than affecting the canonical dinucleotide splice site. Three in silico splice-affecting variant predictors were leveraged to annotate and prioritize variants for splicing functional validation...
July 17, 2017: Human Mutation
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