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https://www.readbyqxmd.com/read/29043143/focal-segmental-glomerulosclerosis-associated-with-mitochondrial-disease
#1
Kenneth Lim, David Steele, Andrew Fenves, Ravi Thadhani, Eliot Heher, Amel Karaa
Primary mitochondrial diseases (MD) are complex, heterogeneous inherited diseases caused by mutations in either the mitochondrial or nuclear DNA. Glomerular diseases in MD have been reported with tRNA mutation m.3243A>G causing a syndrome of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS). We describe here a case of focal segmental glomerulosclerosis (FSGS) associated with a new tRNA mutation site. A 34-year-old man with a history of living related kidney transplantation, diabetes, hearing loss, and developmental delay presented to the outpatient clinic with complaints of new behavioral difficulties, worsening symptoms, and brain involvement on imaging...
2017: Clin Nephrol Case Stud
https://www.readbyqxmd.com/read/29038583/zdhhc13-dependent-drp1-s-palmitoylation-impacts-brain-bioenergetics-anxiety-coordination-and-motor-skills
#2
Eleonora Napoli, Gyu Song, Siming Liu, Alexsandra Espejo, Carlos J Perez, Fernando Benavides, Cecilia Giulivi
Protein S-palmitoylation is a reversible post-translational modification mediated by palmitoyl acyltransferase enzymes, a group of Zn(2+)-finger DHHC-domain-containing proteins (ZDHHC). Here, for the first time, we show that Zdhhc13 plays a key role in anxiety-related behaviors and motor function, as well as brain bioenergetics, in a mouse model (luc) carrying a spontaneous Zdhhc13 recessive mutation. At 3 m of age, mutant mice displayed increased sensorimotor gating, anxiety, hypoactivity, and decreased motor coordination, compared to littermate controls...
October 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29026367/mitochondrial-encephalomyopathy-with-lactic-acidosis-and-stroke-like-episodes-melas-syndrome
#3
Caitlin Henry, Neema Patel, William Shaffer, Lillian Murphy, Joe Park, Bradley Spieler
BACKGROUND: Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome is a rare inherited disorder that results in waxing and waning nervous system and muscle dysfunction. MELAS syndrome may overlap with other neurologic disorders but shows distinctive imaging features. CASE REPORT: We present the case of a 28-year-old female with atypical stroke-like symptoms, a strong family history of stroke-like symptoms, and a relapsing-remitting course for several years...
2017: Ochsner Journal
https://www.readbyqxmd.com/read/29026272/incidence-of-diabetes-mellitus-and-neoplasia-in-japanese-short-statured-children-treated-with-growth-hormone-in-the-genetics-and-neuroendocrinology-of-short-stature-international-study-genesis
#4
Susumu Yokoya, Tomonobu Hasegawa, Keiichi Ozono, Hiroyuki Tanaka, Susumu Kanzaki, Toshiaki Tanaka, Kazuo Chihara, Nan Jia, Christopher J Child, Katsuichiro Ihara, Jumpei Funai, Noriyuki Iwamoto, Yoshiki Seino
The primary goal of the Genetics and Neuroendocrinology of Short Stature International Study (GeNeSIS) was to assess the safety and effectiveness of Humatrope(®), a GH preparation, in the treatment of pediatric patients with short stature. We report our findings in the GH-treated Japanese pediatric population focusing on the incidence of type 2 diabetes (T2D) and occurrence of neoplasms. A total of 2,345 Japanese patients were assessed for safety. During a mean observation period of 3.2 yr, T2D occurred in 3 patients (0...
2017: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/29025253/pathology-of-mitochondria-in-melas-syndrome-an-ultrastructural-study
#5
Paulina Felczak, Eliza Lewandowska, Iwona Stępniak, Monika Ołdak, Agnieszka Pollak, Urszula Lechowicz, Elżbieta Pasennik, Tomasz Stępień, Teresa Wierzba-Bobrowicz
Ultrastructural changes in skeletal muscle biopsy in a 24-year-old female patient with clinically suspected mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes (MELAS) syndrome are presented. We observed proliferation and/or pleomorphism of mitochondria in skeletal muscle and smooth muscle cells of arterioles, as well as in pericytes of capillaries. Paracrystalline inclusions were found only in damaged mitochondria of skeletal muscle. Genetic testing revealed a point mutation in A3243G tRNALeu(UUR) typical for MELAS syndrome...
2017: Polish Journal of Pathology: Official Journal of the Polish Society of Pathologists
https://www.readbyqxmd.com/read/29018645/dietary-therapy-for-von-gierke-s-disease-a-case-report
#6
Mohammad Raza, Fehmina Arif, Pirthvi Raj Giyanwani, Saad Azizullah, Sonum Kumari
Von Gierke's disease, also known as glycogen storage disease (GSD) type 1A, is an autosomal recessive disease in which there is an inability to cleave glycogen to glucose because of a glucose 6 phosphate deficiency resulting in hypoglycemia and lactic acidosis. The patient may present with hepatomegaly and signs and symptoms of hypoglycemia. We diagnosed a case of Von Gierke's disease in a seven-month-old female infant who was admitted for abdominal distension, vomiting, and lethargy for a duration of four months with characteristic rounded doll's face, fatty cheeks, protuberant abdomen, and massive hepatomegaly...
August 8, 2017: Curēus
https://www.readbyqxmd.com/read/29016355/genetic-analysis-of-fructose-1-6-bisphosphatase-fbpase-deficiency-in-nine-consanguineous-pakistani-families
#7
Sadaqat Ijaz, Muhammad Yasir Zahoor, Muhammad Imran, Khushnooda Ramzan, Munir Ahmad Bhinder, Hussain Shakeel, Muhammad Iqbal, Asim Aslam, Wasim Shehzad, Huma Arshad Cheema, Habib Rehman
BACKGROUND: Fructose-1,6-bisphosphatase (FBPase) deficiency is a rare inherited metabolic disorder characterized by recurrent episodes of hypoglycemia, ketosis and lactic acidosis. FBPase is encoded by FBP1 gene and catalyzes the hydrolysis of fructose-1,6-bisphosphate to fructose-6-phosphate in the last step of gluconeogenesis. We report here FBP1 mutations in nine consanguineous Pakistani families affected with FBPase deficiency. METHODS: Nine families having one or two individuals affected with FBPase deficiency were enrolled over a period of 3 years...
October 9, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28991826/relationship-of-at-admission-lactate-unmeasured-anions-and-chloride-to-the-outcome-of-critically-ill-patients
#8
Fabio Daniel Masevicius, Paolo Nahuel Rubatto Birri, Alejandro Risso Vazquez, Facundo Emanuel Zechner, María Fernanda Motta, Emilio Daniel Valenzuela Espinoza, Sebastián Welsh, Ernesto Fidel Guerra Arias, Mariano Andrés Furche, Fernando Daniel Berdaguer, Arnaldo Dubin
OBJECTIVES: To investigate the association between the concentration of the causative anions responsible for the main types of metabolic acidosis and the outcome. DESIGN: Prospective observational study. SETTING: Teaching ICU. PATIENTS: All patients admitted from January 2006 to December 2014. INTERVENTIONS: None. MEASUREMENTS AND MAIN RESULTS: Four thousand nine hundred one patients were admitted throughout the study period; 1,609 met criteria for metabolic acidosis and 145 had normal acid-base values...
October 6, 2017: Critical Care Medicine
https://www.readbyqxmd.com/read/28985713/patients-with-glycogen-storage-diseases-undergoing-anesthesia-a-case-series
#9
Carmelina Gurrieri, Juraj Sprung, Toby N Weingarten, Mary E Warner
BACKGROUND: Glycogen storage diseases are rare genetic disorders of glycogen synthesis, degradation, or metabolism regulation. When these patients are subjected to anesthesia, perioperative complications can develop, including hypoglycemia, rhabdomyolysis, myoglobinuria, acute renal failure, and postoperative fatigue. The objective of this study was to describe the perioperative course of a cohort of patients with glycogen storage diseases. METHODS: This is a retrospective review of patients with glycogen storage diseases undergoing anesthetic care at our institution from January 1, 1990, through June 30, 2015 to assess perioperative management and outcomes...
October 6, 2017: BMC Anesthesiology
https://www.readbyqxmd.com/read/28980449/high-volume-continuous-venovenous-hemodiafiltration-plus-resin-hemoperfusion-improve-severe-metformin-associated-toxicity
#10
Shuangxin Liu, Lixia Xu, Jianchao Ma, Renwei Huang, Ting Lin, Zhuo Li, Huabang Liang, Sijia Li, Ruizhao Li, Li Zhang, Yiming Tao, Zhilian Li, Yuanhan Chen, Zhiming Ye, Bin Zhang, Wenjian Wang, Houqing Xiao, Xinling Liang, Wei Shi
We present the case of a 42-year-old female patient who attempted suicide by taking approximately 100 tablets of metformin (500 mg). Laboratory tests revealed severe lactic acidosis with lactate levels of 24 mmol/L and pH of 7.09. The patient was treated with high-volume continuous venovenous hemodiafiltration (CVVH) and resin-sorbent hemoperfusion. Metformin concentrations were measured by high-performance liquid chromatography (HPLC) during CVVH and hemoperfusion treatment. Before extracorporeal treatment, plasma metformin concentration was 208...
October 5, 2017: Journal of Diabetes Investigation
https://www.readbyqxmd.com/read/28973171/defective-mitochondrial-rrna-methyltransferase-mrm2-causes-melas-like-clinical-syndrome
#11
Caterina Garone, Aaron R D'Souza, Cristina Dallabona, Tiziana Lodi, Pedro Rebelo-Guiomar, Joanna Rorbach, Maria Alice Donati, Elena Procopio, Martino Montomoli, Renzo Guerrini, Massimo Zeviani, Sarah E Calvo, Vamsi K Mootha, Salvatore DiMauro, Ileana Ferrero, Michal Minczuk
Defects in nuclear-encoded proteins of the mitochondrial translation machinery cause early-onset and tissue-specific deficiency of one or more OXPHOS complexes. Here, we report a 7-year-old Italian boy with childhood-onset rapidly progressive encephalomyopathy and stroke-like episodes. Multiple OXPHOS defects and decreased mtDNA copy number (40%) were detected in muscle homogenate. Clinical features combined with low level of plasma citrulline were highly suggestive of mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome, however, the common m...
August 25, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28969510/acute-mitochondrial-myopathy-with-respiratory-insufficiency-and-motor-axonal-polyneuropathy
#12
Ying Zhou, Jian-Hua Yi, Li Liu, Xiaoping Wang, Liang Dong, Ai-Lian Du
Background Mitochondrial myopathies (MMs) are mainly presented with chronic muscle weakness and accompanied with other syndromes. MM with acute respiratory insufficiency is rare. Aims To reveal the clinical, pathological, and molecular characteristics of a life-threatening mitochondrial myopathy (MM). Methods Muscle biopsy and enzyme staining were performed in skeletal muscles. Mitochondrial DNA sequencing was analyzed and heteroplasmy were quantified by pyrosequencing. Results All three patients had tachycardia, acute lactic acidosis, dyspnea, and sudden severe muscle weakness...
October 2, 2017: International Journal of Neuroscience
https://www.readbyqxmd.com/read/28951556/human-ipsc-disease-modelling-reveals-functional-and-structural-defects-in-retinal-pigment-epithelial-cells-harbouring-the-m-3243a%C3%A2-%C3%A2-g-mitochondrial-dna-mutation
#13
Valeria Chichagova, Dean Hallam, Joseph Collin, Adriana Buskin, Gabriele Saretzki, Lyle Armstrong, Patrick Yu-Wai-Man, Majlinda Lako, David H Steel
The m.3243A > G mitochondrial DNA mutation was originally described in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes. The phenotypic spectrum of the m.3243A > G mutation has since expanded to include a spectrum of neuromuscular and ocular manifestations, including reduced vision with retinal degeneration, the underlying mechanism of which remains unclear. We used dermal fibroblasts, from patients with retinal pathology secondary to the m.3243A > G mutation to generate heteroplasmic induced pluripotent stem cell (hiPSC) clones...
September 26, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28942965/biallelic-c1qbp-mutations-cause-severe-neonatal-childhood-or-later-onset-cardiomyopathy-associated-with-combined-respiratory-chain-deficiencies
#14
René G Feichtinger, Monika Oláhová, Yoshihito Kishita, Caterina Garone, Laura S Kremer, Mikako Yagi, Takeshi Uchiumi, Alexis A Jourdain, Kyle Thompson, Aaron R D'Souza, Robert Kopajtich, Charlotte L Alston, Johannes Koch, Wolfgang Sperl, Elisa Mastantuono, Tim M Strom, Saskia B Wortmann, Thomas Meitinger, Germaine Pierre, Patrick F Chinnery, Zofia M Chrzanowska-Lightowlers, Robert N Lightowlers, Salvatore DiMauro, Sarah E Calvo, Vamsi K Mootha, Maurizio Moggio, Monica Sciacco, Giacomo P Comi, Dario Ronchi, Kei Murayama, Akira Ohtake, Pedro Rebelo-Guiomar, Masakazu Kohda, Dongchon Kang, Johannes A Mayr, Robert W Taylor, Yasushi Okazaki, Michal Minczuk, Holger Prokisch
Complement component 1 Q subcomponent-binding protein (C1QBP; also known as p32) is a multi-compartmental protein whose precise function remains unknown. It is an evolutionary conserved multifunctional protein localized primarily in the mitochondrial matrix and has roles in inflammation and infection processes, mitochondrial ribosome biogenesis, and regulation of apoptosis and nuclear transcription. It has an N-terminal mitochondrial targeting peptide that is proteolytically processed after import into the mitochondrial matrix, where it forms a homotrimeric complex organized in a doughnut-shaped structure...
October 5, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28940961/perioperative-continuation-of-metformin-does-not-improve-glycemic-control-in-patients-with-type-2-diabetes-a-randomized-controlled-trial
#15
A H Hulst, J A W Polderman, E Ouweneel, A J Pijl, M W Hollmann, J H DeVries, B Preckel, J Hermanides
Historically, metformin was withheld before surgery in fear of metformin associated lactic acidosis. Now, this risk is deemed low and guidelines move towards continuation of metformin. We hypothesized that continuing metformin perioperatively would lower postoperative serum glucose without an effect on plasma lactate. We performed a single-blind multicenter RCT in type 2 diabetes mellitus patients scheduled for non-cardiac surgery and continued (MF+) or withheld (MF-) metformin before surgery. Main outcome parameters were the differences in perioperative plasma glucose and lactate levels...
September 20, 2017: Diabetes, Obesity & Metabolism
https://www.readbyqxmd.com/read/28936463/sea-food-consumption-for-improving-cardiac-and-cerebral-manifestations-of-mitochondrial-encephalopathy-lactic-acidosis-and-stroke-like-episodes
#16
Fulvio A Scorza, Josef Finsterer
No abstract text is available yet for this article.
September 2017: Annals of Translational Medicine
https://www.readbyqxmd.com/read/28928980/common-yet-elusive-a-case-of-severe-anion-gap-acidosis
#17
Akanksha Agrawal, Marina Kishlyansky, Sylvia Biso, Soumya Patnaik, Chitra Punjabi
Acid-base disturbances are common occurrence in hospitalized patients with life threatening complications. 5-oxoproline has been increasingly recognized as cause of high anion gap metabolic acidosis (AGMA) in association with chronic acetaminophen use. However, laboratory workup for it are not widely available. We report case of 56-year-old female with severe AGMA not attributable to ketoacidosis, lactic acidosis or toxic ingestion. History was significant for chronic acetaminophen use, and laboratory workup negative for all frequent causes of AGMA...
September 2017: Oxford Medical Case Reports
https://www.readbyqxmd.com/read/28919880/non-mammalian-vertebrates-distinct-models-to-assess-the-role-of-ion-gradients-in-energy-expenditure
#18
REVIEW
Caroline E Geisler, Kyle P Kentch, Benjamin J Renquist
Animals store metabolic energy as electrochemical gradients. At least 50% of mammalian energy is expended to maintain electrochemical gradients across the inner mitochondrial membrane (H(+)), the sarcoplasmic reticulum (Ca(++)), and the plasma membrane (Na(+)/K(+)). The potential energy of these gradients can be used to perform work (e.g., transport molecules, stimulate contraction, and release hormones) or can be released as heat. Because ectothermic species adapt their body temperature to the environment, they are not constrained by energetic demands that are required to maintain a constant body temperature...
2017: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/28918066/enzymatic-testing-sensitivity-variability-and-practical-diagnostic-algorithm-for-pyruvate-dehydrogenase-complex-pdc-deficiency
#19
Ha Kyung Shin, George Grahame, Shawn E McCandless, Douglas S Kerr, Jirair K Bedoyan
Pyruvate dehydrogenase complex (PDC) deficiency is a major cause of primary lactic acidemia in children. Prompt and correct diagnosis of PDC deficiency and differentiating between specific vs generalized, or secondary deficiencies has important implications for clinical management and therapeutic interventions. Both genetic and enzymatic testing approaches are being used in the diagnosis of PDC deficiency. However, the diagnostic efficacy of such testing approaches for individuals affected with PDC deficiency has not been systematically investigated in this disorder...
September 8, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28914978/model-informed-dose-optimization-of-dichloroacetate-for-the-treatment-of-congenital-lactic-acidosis-in-children
#20
Naveen Mangal, Margaret O James, Peter W Stacpoole, Stephan Schmidt
Dichloroacetate (DCA) is an investigational drug used to treat congenital lactic acidosis and other mitochondrial disorders. Response to DCA therapy in young children may be suboptimal following body weight-based dosing. This is because of autoinhibition of its metabolism, age-dependent changes in pharmacokinetics, and polymorphisms in glutathione transferase zeta 1 (GSTZ1), its primary metabolizing enzyme. Our objective was to predict optimal DCA doses for the treatment of congenital lactic acidosis in children...
September 15, 2017: Journal of Clinical Pharmacology
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