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Congenital lactic acidosis

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https://www.readbyqxmd.com/read/27843092/rmnd1-related-leukoencephalopathy-with-temporal-lobe-cysts-and-hearing-loss-another-mendelian-mimicker-of-congenital-cytomegalovirus-infection
#1
Nicole Ulrick, Amy Goldstein, Cas Simons, Ryan J Taft, Guy Helman, Amy Pizzino, Miriam Bloom, Julie Vogt, Karen Pysden, Daria Diodato, Diego Martinelli, Ahmad Monavari, Daniela Buhas, Clara D M van Karnebeek, Imen Dorboz, Odile Boespflug-Tanguy, Diana Rodriguez, Martine Tétreault, Jacek Majewski, Genevieve Bernard, Yi Shiau Ng, Robert McFarland, Adeline Vanderver
BACKGROUND: Leukoencephalopathy with temporal lobe cysts may be associated with monogenetic conditions such as Aicardi-Goutières syndrome or RNASET2 mutations and with congenital infections such as cytomegalovirus. In view of the fact that congenital cytomegalovirus is difficult to confirm outside the neonatal period, excluding a Mendelian disorder is extremely relevant, changing family planning and medical management in affected families. We performed diagnostic testing in individuals with leukoencephalopathy with temporal lobe cysts without a definitive diagnosis of congenital cytomegalovirus infection...
September 13, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27815843/coxpd9-an-evolving-multisystem-disease-congenital-lactic-acidosis-sensorineural-hearing-loss-hypertrophic-cardiomyopathy-cirrhosis-and-interstitial-nephritis
#2
C Bursle, A Narendra, R Chuk, J Cardinal, R Justo, B Lewis, D Coman
We present the second report of combined oxidative phosphorylation deficiency-9. The infant presented in the neonatal period with poor feeding, lactic acidosis and sensorineural hearing loss. He subsequently developed a lethal hypertrophic cardiomyopathy during infancy. Cirrhosis and interstitial nephritis were identified at autopsy. Exome sequencing has detected compound heterozygous mutations in the MRPL3 gene which encodes a large mitochondrial ribosome subunit protein. We identified a known heterozygous variant NM_007208 c...
November 5, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27743463/cprfbxl4-defects-are-common-in-patients-with-congenital-lactic-acidemia-and-encephalomyopathic-mitochondrial-dna-depletion-syndrome
#3
Hongzheng Dai, Victor Wei Zhang, Ayman W El-Hattab, Can Ficicioglu, Marwan Shinawi, Matthew Lines, Andreas Schulze, Markey McNutt, Garret Gotway, Xia Tian, Stella Chen, Jing Wang, William J Craigen, Lee-Jun Wong
Mutations in FBXL4 have recently been recognized to cause a mitochondrial disorder, with clinical features including early-onset lactic acidosis, hypotonia, and developmental delay. FBXL4 sequence analysis was performed in 808 subjects suspected to have a mitochondrial disorder. In addition, 28 samples from patients with early onset of lactic acidosis, but without identifiable mutations in 192 genes known to cause mitochondrial diseases, were examined for FBXL4 mutations. Definitive diagnosis was made in ten new subjects with a total of seven novel deleterious variants; five null and two missense substitutions...
October 15, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27720121/rapid-quantification-of-metabolic-intermediates-in-blood-by-liquid-chromatography-tandem-mass-spectrometry-to-investigate-congenital-lactic-acidosis
#4
Minzhi Peng, Yanna Cai, Xiefan Fang, Li Liu
A novel liquid chromatography-tandem mass spectrometry (LC-MS/MS) method has been established to quantify metabolic intermediates, including lactate (Lac), pyruvate (Pyr), acetoacetate (ACAC) and 3-hydroxybutyrate (3-HB) in blood. Samples were deproteinized with methanol-acetonitrile solution, and analytes were separated on an adamantyl group-bonded reverse phase column and detected in multiple reaction monitoring mode. Total analysis time was 4 min per sample. Method validation results displayed that limits of quantification were 10...
October 26, 2016: Analytica Chimica Acta
https://www.readbyqxmd.com/read/27648896/association-of-extracorporeal-membrane-oxygenation-support-adequacy-and-residual-lesions-with-outcomes-in-neonates-supported-after-cardiac-surgery
#5
Taylor S Howard, Brian T Kalish, Daniel Wigmore, Meena Nathan, Thomas J Kulik, Aditya K Kaza, Kathryn Williams, Ravi R Thiagarajan
OBJECTIVES: There is a paucity of data regarding the impact of extracorporeal membrane oxygenation support, adequacy of surgical repair, and timing of intervention for residual structural lesions in neonates cannulated to extracorporeal membrane oxygenation after cardiac surgery. Our goal was to determine how these factors were associated with survival. DESIGN: Retrospective study. SETTING: Cardiovascular ICU. SUBJECTS: Neonates (≤ 28 d old) with congenital heart disease cannulated to extracorporeal membrane oxygenation after cardiac surgery during 2006-2013...
November 2016: Pediatric Critical Care Medicine
https://www.readbyqxmd.com/read/27399168/an-unusual-presentation-of-congenital-intestinal-malrotation-in-a-nonagenarian
#6
Joseph S Fernandez-Moure, Maya L Moses, Andres Garcia, Michael M Reader
INTRODUCTION: Appendicitis is a common surgical pathology with many clinical presentations. Diagnosis can be challenging if there is an alteration to the normal position of anatomical structures and their relationships. CASE PRESENTATION: In this case, we report an unusual presentation of congenital intestinal malrotation in a nonagenarian presenting with generalized abdominal pain and lactic acidosis found to have perforated appendicitis. The patient was admitted to the Hospitalist service for abdominal pain and misdiagnosed with bowel obstruction secondary to previous "operation"...
2016: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/27331005/beneficial-effect-of-feeding-a-ketogenic-diet-to-mothers-on-brain-development-in-their-progeny-with-a-murine-model-of-pyruvate-dehydrogenase-complex-deficiency
#7
Lioudmila Pliss, Urvi Jatania, Mulchand S Patel
UNLABELLED: Pyruvate dehydrogenase complex (PDC) deficiency is a major inborn error of oxidative metabolism of pyruvate in the mitochondria causing congenital lactic acidosis and primarily structural and functional abnormalities of the central nervous system. To provide an alternate source of acetyl-CoA derived from ketone bodies to the developing brain, a formula high in fat content is widely employed as a treatment. In the present study we investigated efficacy of a high-fat diet given to mothers during pregnancy and lactation on lessening of the impact of PDC deficiency on brain development in PDC-deficient female progeny...
June 2016: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/27233227/evidence-of-a-wide-spectrum-of-cardiac-involvement-due-to-acad9-mutations-report-on-nine-patients
#8
Joseph P Dewulf, Catherine Barrea, Marie-Françoise Vincent, Corinne De Laet, Rudy Van Coster, Sara Seneca, Sandrine Marie, Marie-Cécile Nassogne
Acyl-CoA dehydrogenase 9 (ACAD9) is a mitochondrial protein involved in oxidative phosphorylation complex I biogenesis. This protein also exhibits acyl-CoA dehydrogenase (ACAD) activity. ACAD9-mutated patients have been reported to suffer from primarily heart, muscle, liver, and nervous system disorders. ACAD9 mutation is suspected in cases of elevated lactic acid levels combined with complex I deficiency, and confirmed by ACAD9 gene analysis. At least 18 ACAD9-mutated patients have previously been reported, usually displaying severe cardiac involvement...
July 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/26957401/postoperative-abdominal-nirs-values-predict-low-cardiac-output-syndrome-in-neonates
#9
Rhiannon L Hickok, Michael C Spaeder, John T Berger, Jennifer J Schuette, Darren Klugman
BACKGROUND: The development of low cardiac output syndrome (LCOS) after cardiopulmonary bypass (CPB) occurs in up to 25% of neonates and is associated with increased morbidity. Invasive cardiac output monitors such as pulmonary artery catheters have limited availability and are costly. Near-infrared spectroscopy (NIRS) is a noninvasive tool for monitoring regional oxygenation in neonates in the cardiac intensive care unit (CICU). We hypothesize that anterior abdominal NIRS may aid in the early identification of LCOS after cardiac surgery...
March 2016: World Journal for Pediatric & Congenital Heart Surgery
https://www.readbyqxmd.com/read/26935268/in-human-alloreactive-cd4%C3%A2-%C2%BA-t-cells-dichloroacetate-inhibits-aerobic-glycolysis-induces-apoptosis-and-favors-differentiation-towards-the-regulatory-t-cell-subset-instead-of-effector-t-cell-subsets
#10
Theodoros Eleftheriadis, Maria Sounidaki, Georgios Pissas, Georgia Antoniadi, Vassilios Liakopoulos, Ioannis Stefanidis
Although kidney transplantation is the best therapy for end-stage renal disease, rejection remains a concern, and currently available immunosuppressive agents contribute to morbidity and mortality. Thus, novel immunosuppressive drugs are required. Dichloroacetate (DCA) is already used in the treatment of congenital lactic acidosis and characterized by limited toxicity. As DCA inhibits aerobic glycolysis, which is a prerequisite for CD4+ T-cell proliferation and differentiation into effector T-cells, its possible immunosuppressive role in mixed lymphocyte reaction (MLR), a model of alloreactivity, was investigated...
April 2016: Molecular Medicine Reports
https://www.readbyqxmd.com/read/26920905/echs1-deficiency-as-a-cause-of-severe-neonatal-lactic-acidosis
#11
Rebecca D Ganetzky, Kaitlyn Bloom, Rebecca Ahrens-Nicklas, Andrew Edmondson, Matthew A Deardorff, Michael J Bennett, Can Ficicioglu
Mitochondrial short-chain enoyl-CoA hydratase deficiency (ECHS1D) is caused by mutations in ECHS1 (OMIM 602292) and is a recently identified inborn error of valine and fatty acid metabolism. This defect leads to secondary mitochondrial dysfunction. The majority of previously reported patients had the Leigh syndrome, with a median life expectancy of approximately 2 years. We report two siblings born 3 years apart with prenatal findings including facial dysmorphia, oligohydramnios, intrauterine growth restriction, and premature delivery...
2016: JIMD Reports
https://www.readbyqxmd.com/read/26510951/lrpprc-mutations-cause-early-onset-multisystem-mitochondrial-disease-outside-of-the-french-canadian-population
#12
Monika Oláhová, Steven A Hardy, Julie Hall, John W Yarham, Tobias B Haack, William C Wilson, Charlotte L Alston, Langping He, Erik Aznauryan, Ruth M Brown, Garry K Brown, Andrew A M Morris, Helen Mundy, Alex Broomfield, Ines A Barbosa, Michael A Simpson, Charu Deshpande, Dorothea Moeslinger, Johannes Koch, Georg M Stettner, Penelope E Bonnen, Holger Prokisch, Robert N Lightowlers, Robert McFarland, Zofia M A Chrzanowska-Lightowlers, Robert W Taylor
Mitochondrial Complex IV [cytochrome c oxidase (COX)] deficiency is one of the most common respiratory chain defects in humans. The clinical phenotypes associated with COX deficiency include liver disease, cardiomyopathy and Leigh syndrome, a neurodegenerative disorder characterized by bilateral high signal lesions in the brainstem and basal ganglia. COX deficiency can result from mutations affecting many different mitochondrial proteins. The French-Canadian variant of COX-deficient Leigh syndrome is unique to the Saguenay-Lac-Saint-Jean region of Québec and is caused by a founder mutation in the LRPPRC gene...
December 2015: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/26018198/adrenal-insufficiency-in-mitochondrial-disease-a-rare-case-of-gfer-related-mitochondrial-encephalomyopathy-and-review-of-the-literature
#13
Laurel Calderwood, Ingrid A Holm, Lisa A Teot, Irina Anselm
GFER-related mitochondrial encephalomyopathy has been previously described only in 3 siblings of a consanguineous Moroccan family. Their phenotype included congenital cataracts, hypotonia, developmental delay, and sensorineural hearing loss. Multiple mitochondrial respiratory chain complex deficiencies were identified on muscle biopsy. We describe a now-19-year-old woman with adrenal insufficiency, lactic acidosis, congenital cataracts, and respiratory insufficiency secondary to mitochondrial disorder, who was reported by North et al (1996) as a toddler...
February 2016: Journal of Child Neurology
https://www.readbyqxmd.com/read/25638461/a-novel-homozygous-yars2-mutation-in-two-italian-siblings-and-a-review-of-literature
#14
Anna Ardissone, Eleonora Lamantea, Jade Quartararo, Cristina Dallabona, Franco Carrara, Isabella Moroni, Claudia Donnini, Barbara Garavaglia, Massimo Zeviani, Graziella Uziel
YARS2 encodes the mitochondrial tyrosyl-tRNA synthetase that catalyzes the covalent binding of tyrosine to its cognate mt-tRNA. Mutations in YARS2 have been identified in patients with myopathy, lactic acidosis, and sideroblastic anemia type 2 (MLASA2). We report here on two siblings with a novel mutation and a review of literature. The older patient presented at 2 months with marked anemia and lactic acidemia. He required periodic blood transfusions until 14 months of age. Cognitive and motor development was normal...
2015: JIMD Reports
https://www.readbyqxmd.com/read/25604853/rmnd1-deficiency-associated-with-neonatal-lactic-acidosis-infantile-onset-renal-failure-deafness-and-multiorgan-involvement
#15
Alexandre Janer, Clara Dm van Karnebeek, Florin Sasarman, Hana Antonicka, Malak Al Ghamdi, Casper Shyr, Mary Dunbar, Sylvia Stockler-Ispiroglu, Colin J Ross, Hilary Vallance, Janis Dionne, Wyeth W Wasserman, Eric A Shoubridge
RMND1 is an integral inner membrane mitochondrial protein that assembles into a large 240 kDa complex to support translation of the 13 polypeptides encoded on mtDNA, all of which are essential subunits of the oxidative phosphorylation (OXPHOS) complexes. Variants in RMND1 produce global defects in mitochondrial translation and were first reported in patients with severe neurological phenotypes leading to mortality in the first months of life. Using whole-exome sequencing, we identified compound heterozygous RMND1 variants in a 4-year-old patient with congenital lactic acidosis, severe myopathy, hearing loss, renal failure, and dysautonomia...
October 2015: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/25548361/an-unusual-cause-of-persisting-hyperlactatemia-in-a-neonate-undergoing-open-heart-surgery
#16
Ashish Kumar Simalti, Raja Joshi, Neeraj Aggarwal, Mridul Agarwal, Reena K Joshi
Being a reflection of the degree of global tissue anoxia, serum lactate levels therefore can be used as a marker of organ damage and eventual outcome. A statistically significant association was observed between serum lactate levels and subsequent mortality and morbidity in critically ill adults, children, and neonates. In cardiac critical care, hyperlactatemia is usually multifactorial in origin, resulting from a combination of etiologies. Many centers are using serial lactate levels in conjugation with other parameters of cellular oxygen delivery, consumption, or extraction to monitor prognosis after pediatric cardiac surgery...
January 2015: World Journal for Pediatric & Congenital Heart Surgery
https://www.readbyqxmd.com/read/25265045/gestational-diabetes-long-term-central-nervous-system-developmental-and-cognitive-sequelae
#17
REVIEW
Robert Perna, Ashlee R Loughan, Jessica Le, Kelly Tyson
Gestational diabetes is a common complication of pregnancy and occurs in approximately 7% of all pregnancies. It has been associated with an increased rate of congenital anomalies including disturbances of intrauterine growth, delayed brain maturity, and neurobehavioral abnormalities in the offspring. The resulting maternal and fetal metabolic dysfunction leads to diminished iron stores (which can affect red blood cell [RBC] production and subsequent organogenesis), a metabolism-placental perfusion mismatch, increased FFA, increased lactic acidosis, and potential hypoxia...
2015: Applied Neuropsychology. Child
https://www.readbyqxmd.com/read/25208612/sengers-syndrome-six-novel-agk-mutations-in-seven-new-families-and-review-of-the-phenotypic-and-mutational-spectrum-of-29-patients
#18
REVIEW
Alireza Haghighi, Tobias B Haack, Mehnaz Atiq, Hassan Mottaghi, Hamidreza Haghighi-Kakhki, Rani A Bashir, Uwe Ahting, René G Feichtinger, Johannes A Mayr, Agnès Rötig, Anne-Sophie Lebre, Thomas Klopstock, Andrea Dworschak, Nathan Pulido, Mahmood A Saeed, Nasrollah Saleh-Gohari, Eliska Holzerova, Patrick F Chinnery, Robert W Taylor, Holger Prokisch
BACKGROUND: Sengers syndrome is an autosomal recessive condition characterized by congenital cataract, hypertrophic cardiomyopathy, skeletal myopathy and lactic acidosis. Mutations in the acylglycerol kinase (AGK) gene have been recently described as the cause of Sengers syndrome in nine families. METHODS: We investigated the clinical and molecular features of Sengers syndrome in seven new families; five families with the severe and two with the milder form. RESULTS: Sequence analysis of AGK revealed compound heterozygous or homozygous predicted loss-of-function mutations in all affected individuals...
August 20, 2014: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/25125034/-lactic-acidosis-in-a-child-with-acute-severe-asthma
#19
C Perrin, N Savy, M Lang, N Caron, A Labbé
Lactic acidosis is a recognized event in adult patients with acute severe asthma (ASA). Only a few cases have been reported in children. Hereinafter is reported the case of a 2-year-old girl hospitalized in the pediatric intensive care unit for ASA, which was treated with high-flow oxygen therapy and intravenous methylprednisolone and salbutamol. During hospitalization, she had metabolic acidosis with a 7.29 pH, a 26mmHg hypocapnia, and a decrease in bicarbonates to 12 mmol/L. The anion gap was increased to 20 mmol/L and lactates to 8 mmol/L...
October 2014: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/25087164/founder-p-arg-446-mutation-in-the-pdhx-gene-explains-over-half-of-cases-with-congenital-lactic-acidosis-in-roma-children
#20
Ivan S Ivanov, Dimitar N Azmanov, Mariya B Ivanova, Teodora Chamova, Ilyana H Pacheva, Margarita V Panova, Sharon Song, Bharti Morar, Ralitsa V Yordanova, Fani K Galabova, Iglika G Sotkova, Alexandar J Linev, Stoyan Bitchev, Anne-Marie J Shearwood, Dalia Kancheva, Dana Gabrikova, Veronika Karcagi, Velina Guergueltcheva, Ina E Geneva, Veneta Bozhinova, Vili K Stoyanova, Ivo Kremensky, Albena Jordanova, Aleksey Savov, Rita Horvath, Matthew A Brown, Ivailo Tournev, Aleksandra Filipovska, Luba Kalaydjieva
Investigation of 31 of Roma patients with congenital lactic acidosis (CLA) from Bulgaria identified homozygosity for the R446* mutation in the PDHX gene as the most common cause of the disorder in this ethnic group. It accounted for around 60% of patients in the study and over 25% of all CLA cases referred to the National Genetic Laboratory in Bulgaria. The detection of a homozygous patient from Hungary and carriers among population controls from Romania and Slovakia suggests a wide spread of the mutation in the European Roma population...
September 2014: Molecular Genetics and Metabolism
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