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https://www.readbyqxmd.com/read/28210873/inborn-errors-of-metabolism-associated-with-psychosis-literature-review-and-case-control-study-using-exome-data-from-5090-adult-individuals
#1
Yannis J Trakadis, Vanessa Fulginiti, Mark Walterfang
A literature review was conducted, using the computerized "Online Mendelian Inheritance in Man" (OMIM) and PubMed, to identify inborn errors of metabolism (IEM) in which psychosis may be a predominant feature or the initial presenting symptom. Different combinations of the following keywords were searched using OMIM: "psychosis", "schizophrenia", or "hallucinations" and "metabolic", "inborn error of metabolism", "inborn errors of metabolism", "biochemical genetics", or "metabolic genetics". The OMIM search generated 126 OMIM entries, 40 of which were well known IEM...
February 16, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28167293/ethanol-extract-of-the-seed-of-zizyphus-jujuba-var-spinosa-potentiates-hippocampal-synaptic-transmission-through-mitogen-activated-protein-kinase-adenylyl-cyclase-and-protein-kinase-a-pathways
#2
So Yeon Jo, In Ho Jung, Jee Hyun Yi, Tae Joon Choi, Seungheon Lee, Ji Wook Jung, Jeanho Yun, Young Choon Lee, Jong Hoon Ryu, Dong Hyun Kim
ETHNOPHARMACOLOGICAL RELEVANCE: As the seed of Zizyphus jujuba var. spinosa (Bunge) Hu ex H.F. Chow (Rhamnaceae) has been used to sleep disturbances in traditional Chinese and Korean medicine, many previous studies have focused on its sedative effect. AIM OF THE STUDY: Recently, we reported the neuroprotective effect of the effect of Z. jujuba var. spinosa. However, its effects on synaptic function have not yet been studied. In this project, we examined the action of ethanol extract of the seed of Z...
February 3, 2017: Journal of Ethnopharmacology
https://www.readbyqxmd.com/read/28153297/detection-of-inborn-errors-of-metabolism-utilizing-gc-ms-urinary-metabolomics-coupled-with-a-modified-orthogonal-partial-least-squares-discriminant-analysis
#3
Qin Yang, Shan-Shan Lin, Jiang-Tao Yang, Li-Juan Tang, Ru-Qin Yu
GC-MS urinary metabolomic analysis coupled with chemometrics is used to detect inborn errors of metabolism (IEMs), which are genetic disorders causing severe mental and physical debility and even sudden infant death. Orthogonal partial least squares discriminant analysis (OPLS-DA) is an efficient multivariate statistical method that conducts data analysis of metabolite profiling. However, performance degradation is often observed for OPLS-DA due to increasing size and complexity of metabolomic datasets. In this study, hybrid particle swarm optimization (HPSO) is employed to modify OPLS-DA by simultaneously selecting the optimal variable subset, associated weights and the appropriate number of orthogonal components, constructing a new algorithm called HPSO-OPLSDA...
April 1, 2017: Talanta
https://www.readbyqxmd.com/read/28148645/nonlinear-effects-of-hyperpolarizing-shifts-in-activation-of-mutant-nav1-7-channels-on-resting-membrane-potential
#4
Mark Estacion, Stephen G Waxman
The Nav1.7 sodium channel is preferentially expressed within dorsal root ganglion (DRG) and sympathetic ganglion neurons. Gain-of-function mutations that cause the painful disorder inherited erythromelalgia (IEM) shift channel activation in a hyperpolarizing direction. When expressed within DRG neurons, these mutations produce a depolarization of resting membrane potential (RMP). The biophysical basis for the depolarized RMP has to date not been established. To explore the effect on RMP of the shift in activation associated with a prototypical IEM mutation (L858H), we used dynamic clamp models that represent graded shifts that fractionate the effect of the mutation on activation voltage-dependence...
February 1, 2017: Journal of Neurophysiology
https://www.readbyqxmd.com/read/28141776/acute-illness-protocol-for-organic-acidemias-methylmalonic-acidemia-and-propionic-acidemia
#5
Saud H Aldubayan, Lance H Rodan, Gerard T Berry, Harvey L Levy
Inborn errors of metabolism (IEM) are genetic disorders that disrupt enzyme activity, cellular transport, or energy production. They are individually rare, but collectively have an incidence of 1:1000. Most patients with IEMs are followed by a physician with expertise in Biochemical Genetics (Metabolism), but may present outside of this setting. Because IEMs can present acutely with life-threatening crises that require specific interventions, it is critical for the emergency medicine physicians, pediatricians, internists, and critical care physicians as well as biochemical geneticists to be familiar with the initial assessment and management of patients with these disorders...
February 2017: Pediatric Emergency Care
https://www.readbyqxmd.com/read/28109477/clinical-outcomes-following-cochlear-implantation-in-children-with-inner-ear-anomalies
#6
Amal Isaiah, Daniel Lee, Felicity Lenes-Voit, Melissa Sweeney, Walter Kutz, Brandon Isaacson, Peter Roland, Kenneth H Lee
OBJECTIVE: A significant proportion of children with congenital hearing loss who are candidates for cochlear implants (CIs) may have inner ear malformations (IEMs). Surgical and speech outcomes following CI in these children have not been widely reported. METHODS: The charts of children who were evaluated for a CI between 1/1/1986 and 12/31/2014 at a university-based tertiary level pediatric cochlear implant center were reviewed. Principal inclusion criteria included (i) age 1-18 years, (ii) history of bilateral severe to profound sensorineural hearing loss, and (iii) limited benefit from binaural amplification...
February 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28031263/interaction-between-swp9-and-ptps-of-the-microsporidian-nosema-bombycis-and-swp9-as-a-scaffolding-protein-contributes-to-the-polar-tube-tethering-to-spore-wall
#7
Donglin Yang, Lixia Pan, Pai Peng, Xiaoqun Dang, Chunfeng Li, Tian Li, Mengxian Long, Jie Chen, Yujiao Wu, Huihui Du, Bo Luo, Yue Song, Rui Tian, Jie Luo, Zeyang Zhou, Guoqing Pan
All the members of microsporidia possess a unique, highly specialized invasion mechanism that involves the polar tube and spore wall. The interaction between spore wall proteins (SWPs) and polar tube proteins (PTPs) in the formation, arrangement, orderly orientation and function of the polar tube and spore wall remain to be determined. This study was undertaken to examine the protein interactions of the Nosema bombycis SWP7, SWP9 and PTPs. Co-immunoprecipitation, LC-MS/MS and yeast two hybrid data demonstrated that NbSWP9, but not NbSWP7, interacts with NbPTP1 and NbPTP2...
December 28, 2016: Infection and Immunity
https://www.readbyqxmd.com/read/28009416/sleep-quality-and-risk-factors-of-atherosclerosis-in-predialysis-chronic-kidney-disease
#8
Ibrahim Guney, Yavuz Sultan Selim Akgul, Vedat Gencer, Harun Aydemir, Uysaler Aslan, Samil Ecirli
INTRODUCTION: Chronic kidney disease (CKD) patients have more frequent sleep disorders and cardiovascular disease than normals. Since arterial stiffness as a risk factor of atherosclerosis can be evaluated with pulse wave velocity (PWV), we aimed to investigate the prevalance of sleep quality (SQ) and the relationship between SQ and risk factors of atherosclerosis and whether there is a relationship between SQ and PWV (the indicator of arterial stiffness) in predialysis CKD patients. METHODS: This cross-sectional study was carried out in CKD patients followed at the Nephrology Department in Konya, Turkey, between November 2014 and March 2015...
December 19, 2016: International Journal of Artificial Organs
https://www.readbyqxmd.com/read/27984225/anesthetic-management-of-patients-with-inborn-errors-of-metabolism
#9
Benjamin Kloesel, Robert S Holzman
Inborn errors of metabolism (IEM) are characterized by the body's inability to convert food into energy. The pathogenetic mechanism is based on defects in a variety of cellular enzymes. In addition to impairment of energy generation, accumulation of substrates may occur, which can deposit in tissue and lead to organ dysfunction. IEM can have profound implications for perioperative management, including difficult airway management, cardiac dysfunction, aspiration risk, seizures, and metabolic dysregulation. For the anesthesiologist, comprehensive knowledge is difficult to attain because of the heterogeneity of this group and the low prevalence of specific diseases...
December 15, 2016: Anesthesia and Analgesia
https://www.readbyqxmd.com/read/27966099/small-molecules-as-therapeutic-agents-for-inborn-errors-of-metabolism
#10
REVIEW
Leslie Matalonga, Laura Gort, Antonia Ribes
Most inborn errors of metabolism (IEM) remain without effective treatment mainly due to the incapacity of conventional therapeutic approaches to target the neurological symptomatology and to ameliorate the multisystemic involvement frequently observed in these patients. However, in recent years, the therapeutic use of small molecules has emerged as a promising approach for treating this heterogeneous group of disorders. In this review, we focus on the use of therapeutically active small molecules to treat IEM, including readthrough agents, pharmacological chaperones, proteostasis regulators, substrate inhibitors, and autophagy inducers...
December 13, 2016: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27933662/evidence-of-staphylococcus-aureus-deformation-proliferation-and-migration-in-canaliculi-of-live-cortical-bone-in-murine-models-of-osteomyelitis
#11
Karen L de Mesy Bentley, Ryan Trombetta, Kohei Nishitani, Sheila N Bello-Irizarry, Mark Ninomiya, Longze Zhang, Hung Li Chung, James L McGrath, John L Daiss, Hani A Awad, Stephen L Kates, Edward M Schwarz
While Staphylococcus aureus osteomyelitis is considered to be incurable, the major bacterial reservoir in live cortical bone has remained unknown. In addition to biofilm bacteria on necrotic tissue and implants, studies have implicated intracellular infection of osteoblasts and osteocytes as a mechanism of chronic osteomyelitis. Thus, we performed the first systematic transmission electron microscopy (TEM) studies to formally define major reservoirs of S. aureus in chronically infected mouse (Balb/c J) long bone tissue...
December 8, 2016: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/27890833/pulse-wave-analysis-after-treatment-of-abdominal-aortic-aneurysms-with-the-ovation-device
#12
Efstratios Georgakarakos, Christos Argyriou, George S Georgiadis, Miltos K Lazarides
BACKGROUND: Ovation aortic stent-graft system is a new device for the endovascular treatment of Abdominal Aortic Aneurysms achieving fixation via a 35-mm long, rigid anchored suprarenal stent and sealing stent at the infrarenal level by a means of a polymer-filling pair of inflatable O-rings, which cause narrowing of flow lumen and regional stenosis. Thus, concerns have been raised regarding hemodynamic consequences associated with this new design. Our preliminary report showed no significant increase of aortic pulse wave velocity (aPWV) immediately after implantation of the ovation in 3 patients...
November 25, 2016: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/27853988/antenatal-manifestations-of-inborn-errors-of-metabolism-prenatal-imaging-findings
#13
Laurent Guibaud, Sophie Collardeau-Frachon, Audrey Lacalm, Mona Massoud, Massimiliano Rossi, Marie Pierre Cordier, Christine Vianey-Saban
Prenatal manifestations of inborn errors of metabolism (IEM) are related to severe disorders involving metabolic pathways active in the fetal period and not compensated by maternal or placental metabolism. Some prenatal imaging findings can be suggestive of such conditions-especially in cases of consanguinity and/or recurrence of symptoms-after exclusion of the most frequent nonmetabolic etiologies. Most of these prenatal imaging findings are nonspecific. They include mainly ascites and hydrops fetalis, intrauterine growth restriction (IUGR), central nervous system (CNS) anomalies, echogenic kidneys, epiphyseal stippling, craniosynostosis, and a wide spectrum of dysostoses...
January 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27830119/the-first-mongolian-cases-of-phenylketonuria-in-selective-screening-of-inborn-errors-of-metabolism
#14
Jamiyan Purevsuren, Baasandai Bolormaa, Chogdon Narantsetseg, Renchindorj Batsolongo, Ochirbat Enkhchimeg, Munkhuu Bayalag, Yuki Hasegawa, Haruo Shintaku, SeijiYamaguchi
BACKGROUND: Inborn errors of metabolism (IEM) are rare genetic disorders in which a single gene defect causes a clinically significant block in a metabolic pathway. Clinical problems arise due to either accumulation of substrates that are toxic or interfere with normal function, or deficiency of the products that are used to synthesize essential compounds. There is no report of screening results or confirmed cases of IEM in Mongolia. Only pilot study of newborn screening for congenital hypothyroidism was implemented in Mongolia, where the incidence of congenital hypothyroidism is calculated to be 1:3057 in Mongolia...
December 2016: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/27816186/-transition-process-from-paediatric-to-adult-care-in-patients-with-inborn-errors-of-metabolism-consensus-statement
#15
Jordi Pérez-López, Leticia Ceberio-Hualde, José Salvador García Morillo, Josep M Grau-Junyent, Álvaro Hermida Ameijeiras, Mónica López-Rodríguez, Montserrat Morales-Conejo, Juan José Nava Mateos, Luis José Aldámiz Echevarri Azuara, Jaume Campistol, M Luz Couce, María Teresa García-Silva, Luis González Gutiérrez-Solana, Mireia Del Toro
BACKGROUND AND OBJECTIVE: The transition process from paediatric to adult care is a subject of great interest in recent years, especially in chronic diseases with childhood onset, such as inborn errors of metabolism (IEM). Advances in diagnosis and treatment of these diseases have improved their prognosis, with a high number of patients with IEM who currently reach adult age and need to be attended to by non-paediatric professionals. The objective of this work is to establish action guidelines so that the specialists involved can guarantee a successful transition of these patients' healthcare...
December 2, 2016: Medicina Clínica
https://www.readbyqxmd.com/read/27784639/gas-chromatography-mass-spectrometry-based-urine-metabolome-study-in-children-for-inborn-errors-of-metabolism-an-indian-experience
#16
Mahesh H Hampe, Shrimant N Panaskar, Ashwini A Yadav, Pramod W Ingale
OBJECTIVE: The present study highlights the feasibility of gas chromatography/mass spectrometry (GC/MS)-based analysis for simultaneous detection of >200 marker metabolites in urine found in characteristic pattern in inborn errors of metabolism (IEM) in India. DESIGN AND METHODS: During this retrospective study conducted from July 2013 to January 2016, we collected urine specimens on filter papers from Indian children across the country along with relevant demographic and clinical data...
October 23, 2016: Clinical Biochemistry
https://www.readbyqxmd.com/read/27735016/iiem-spfret-improved-iem-spfret-method-for-robust-fret-measurement
#17
Jiang Zhang, Fangrui Lin, Liuying Chai, Lichun Wei, Tongsheng Chen
No abstract text is available yet for this article.
October 1, 2016: Journal of Biomedical Optics
https://www.readbyqxmd.com/read/27703389/ineffective-esophageal-motility-and-the-vagus-current-challenges-and-future-prospects
#18
Ji-Hong Chen
Ineffective esophageal motility (IEM) is characterized by low to very low amplitude propulsive contractions in the distal esophagus, hence primarily affecting the smooth muscle part of the esophagus. IEM is often found in patients with dysphagia or heartburn and is commonly associated with gastroesophageal reflux disease. IEM is assumed to be associated with ineffective bolus transport; however, this can be verified using impedance measurements or evaluation of a barium coated marshmallow swallow. Furthermore, water swallows may not assess accurately the motor capabilities of the esophagus, since contraction amplitude is strongly determined by the size and consistency of the bolus...
2016: Clinical and Experimental Gastroenterology
https://www.readbyqxmd.com/read/27689836/blue-light-transmittance-of-esthetic-monolithic-cad-cam-materials-with-respect-to-their-composition-thickness-and-curing-conditions
#19
B Stawarczyk, D Awad, N Ilie
Determining the amount of blue light (360-540nm) passing through nine monolithic computer-aided design/computer-aided manufacturing (CAD/CAM) materials depends on material thickness, initial irradiance, and the distance between the curing unit and the specimen's surface. A total of 180 specimens of two thicknesses (1 mm and 2 mm, n=10/subgroup) were fabricated from TelioCAD, VITA CAD-Temp (VCT), experimental nanocomposite, LAVA Ultimate (LU), VITA ENAMIC (VE), VITA MarkII (VM), IPS EmpressCAD (IEC), IPS e.maxCAD (IEM), and CELTRA DUO (CD)...
September 2016: Operative Dentistry
https://www.readbyqxmd.com/read/27682710/co-existence-of-phenylketonuria-either-with-maple-syrup-urine-disease-or-sandhoff-disease-in-two-patients-from-iran-emphasizing-the-role-of-consanguinity
#20
Maryam Abiri, Saeed Talebi, Jouni Uitto, Leila Youssefian, Hassan Vahidnezhad, Tina Shirzad, Shadab Salehpour, Sirous Zeinali
Most inborn errors of metabolism (IEMs) are inherited in an autosomal recessive manner. IEMs are one of the major concerns in Iran due to its extensive consanguineous marriages. Herein, we report two patients with two co-existent IEMs: a girl affected by classic phenylketonuria (PKU) and maple syrup urine disease (MSUD) and a male patient affected with Sandhoff disease and PKU, where Sandhoff disease was suspected due to the presence of a cherry-red spot in the eyes at 6 months which is unrelated to PKU. Sequencing of candidate genes in the first patient revealed one novel and three recurrent compound heterozygous mutations of p...
October 1, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
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