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https://www.readbyqxmd.com/read/29786834/assessment-of-lactate-production-as-a-response-to-sustained-intrapartum-hypoxia-in-large-for-gestational-age-newborns
#1
Mehreen Zaigham, Karin Källén, Per Olofsson
INTRODUCTION: Lactate concentration in umbilical cord blood is an important measure of intrapartum anaerobic metabolism. The aim of the study was to compare lactate production of large-for-gestational-age (LGA) fetuses against appropriate-for-gestational-age (AGA) fetuses during hypoxia, in diabetic and non-diabetic mothers. MATERIAL AND METHODS: 17 358 validated paired arterial and venous umbilical cord blood samples taken at birth with a full panel of pH, glucose and lactate were analyzed relative to LGA (n=2789) and AGA (n=14 569)...
May 22, 2018: Acta Obstetricia et Gynecologica Scandinavica
https://www.readbyqxmd.com/read/29779173/long-lasting-high-lysine-diet-aggravates-white-matter-injury-in-glutaryl-coa-dehydrogenase-deficient-gcdh-mice
#2
Silvia Olivera-Bravo, Bianca Seminotti, Eugenia Isasi, César A Ribeiro, Guilhian Leipnitz, Michael Woontner, Stephen I Goodman, Diogo Souza, Luis Barbeito, Moacir Wajner
Glutaric acidemia type I (GA-I) is a neurometabolic disease caused by deficient activity of glutaryl-CoA dehydrogenase (GCDH) that results in accumulation of metabolites derived from lysine (Lys), hydroxylysine, and tryptophan catabolism. GA-I patients typically develop encephalopatic crises with striatal degeneration and progressive white matter defects. However, late onset patients as well as Gcdh-/- mice only suffer diffuse myelinopathy, suggesting that neuronal death and white matter defects are different pathophysiological events...
May 19, 2018: Molecular Neurobiology
https://www.readbyqxmd.com/read/29757724/neuroimaging-findings-of-organic-acidemias-and-aminoacidopathies
#3
Nihaal Reddy, Sonia F Calloni, Hilary J Vernon, Eugen Boltshauser, Thierry A G M Huisman, Bruno P Soares
Although individual cases of inherited metabolic disorders are rare, overall they account for a substantial number of disorders affecting the central nervous system. Organic acidemias and aminoacidopathies include a variety of inborn errors of metabolism that are caused by defects in the intermediary metabolic pathways of carbohydrates, amino acids, and fatty acid oxidation. These defects can lead to the abnormal accumulation of organic acids and amino acids in multiple organs, including the brain. Early diagnosis is mandatory to initiate therapy and prevent permanent long-term neurologic impairments or death...
May 2018: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/29750436/fetal-blood-gas-values-during-fetoscopic-myelomeningocele-repair-performed-under-carbon-dioxide-insufflation
#4
Ahmet A Baschat, Edward S Ahn, Jamie Murphy, Jena L Miller
BACKGROUND: Fetoscopic myelomeningocele (MMC) repair is performed with intrauterine carbon dioxide (CO2 ) insufflation. While lamb experiments have shown significant fetal acidemia following CO2 insufflation corresponding information for human pregnancies is not available. CASES: We performed umbilical venous cord blood sampling in three patients during fetoscopic MMC repair at 25+1, 25+3 and 24+1 weeks gestation. Fetal venous pH at the beginning of CO2 insufflation were 7...
May 10, 2018: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29735120/movement-disorders-and-neurometabolic-diseases
#5
Celanie K Christensen, Laurence Walsh
Many inherited metabolic diseases or inborn errors of metabolism (IEM) cause movement disorders in children. This review focuses on chorea, dystonia, myoclonus, tremor, and parkinsonism. Broad neurometabolic categories commonly responsible for pediatric movement disorders include mitochondrial cytopathies, organic acidemias, mineral metabolism and transport disorders, neurotransmitter diseases, purine metabolism abnormalities, lipid storage conditions, and creatine metabolism dysfunction. Each movement disorder can be caused by many IEM and several of them can cause multiple movement abnormalities...
April 2018: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/29731766/expanded-newborn-screening-for-inborn-errors-of-metabolism-and-genetic-characteristics-in-a-chinese-population
#6
Kejian Guo, Xuan Zhou, Xigui Chen, Yili Wu, Chuanxin Liu, Qingsheng Kong
The incidence of inborn errors of metabolisms (IEMs) varies dramatically in different countries and regions. Expanded newborn screening for IEMs by tandem mass spectrometry (MS/MS) is an efficient approach for early diagnosis and presymptomatic treatment to prevent severe permanent sequelae and death. To determine the characteristics of IEMs and IEMs-associated mutations in newborns in Jining area, China, 48,297 healthy neonates were recruited for expanded newborn screening by MS/MS. The incidence of IEMs was 1/1178 in Jining, while methylmalonic acidemia, phenylketonuria, and primary carnitine deficiency ranked the top 3 of all detected IEMs...
2018: Frontiers in Genetics
https://www.readbyqxmd.com/read/29725551/domino-liver-transplantation-from-a-child-with-propionic-acidemia-to-a-child-with-idiopathic-fulminant-hepatic-failure
#7
Marina Moguilevitch, Ellise Delphin
Domino liver transplant has emerged as a viable strategy to increase the number of grafts available for transplantation. In the domino transplant organs explanted from one patient are transplanted into another patient. The first successful domino liver transplant was performed in Portugal in 1995. Since then this innovative concept has been applied to several genetic or biochemical disorders that are treated by liver transplantation. An important consideration during this operation is that such livers can pose a risk of the de novo development of the disease in the recipient...
2018: Case Reports in Transplantation
https://www.readbyqxmd.com/read/29679984/long-term-continuous-n-carbamylglutamate-treatment-in-frequently-decompensated-propionic-acidemia-a-case-report
#8
Albina Tummolo, Livio Melpignano, Antonella Carella, Anna Maria Di Mauro, Elvira Piccinno, Marcella Vendemiale, Federica Ortolani, Stefania Fedele, Maristella Masciopinto, Francesco Papadia
BACKGROUND: Propionic acidemia is a rare autosomal recessive inherited metabolic disorder that can inhibit the synthesis of N-acetylglutamate, the obligatory activator in urea synthesis, leading to hyperammonemia. N-carbamylglutamate ameliorates hyperammonemia in decompensated propionic acidemia. The effects of long-term continuous N-acetylglutamate administration in such patients are unknown. We report our clinical experience with continuous administration of N-acetylglutamate for 6 years in a patient with propionic acidemia frequently presenting with hyperammonemia...
April 22, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29675709/acid-base-status-and-its-clinical-implications-in-critically-ill-patients-with-cirrhosis-acute-on-chronic-liver-failure-and-without-liver-disease
#9
Andreas Drolz, Thomas Horvatits, Kevin Roedl, Karoline Rutter, Richard Brunner, Christian Zauner, Peter Schellongowski, Gottfried Heinz, Georg-Christian Funk, Michael Trauner, Bruno Schneeweiss, Valentin Fuhrmann
BACKGROUND: Acid-base disturbances are frequently observed in critically ill patients at the intensive care unit. To our knowledge, the acid-base profile of patients with acute-on-chronic liver failure (ACLF) has not been evaluated and compared to critically ill patients without acute or chronic liver disease. RESULTS: One hundred and seventy-eight critically ill patients with liver cirrhosis were compared to 178 matched controls in this post hoc analysis of prospectively collected data...
April 19, 2018: Annals of Intensive Care
https://www.readbyqxmd.com/read/29660608/generation-and-characterization-of-two-human-ipsc-lines-from-patients-with-methylmalonic-acidemia-cblb-type
#10
E Richard, S Brasil, A Briso-Montiano, E Alonso-Barroso, M E Gallardo, B Merinero, M Ugarte, L R Desviat, B Pérez
Two human induced pluripotent stem cell (iPSC) lines were generated from fibroblasts of two siblings with methylmalonic acidemia cblB type carrying mutations in the MMAB gene: c.287T➔C (p.Ile96Thr) and a splicing loss-of-function variant c.584G➔A affecting the last nucleotide of exon 7 in MMAB (p.Ser174Cysfs*23). Reprogramming factors OCT3/4, SOX2, KLF4 and c-MYC were delivered using a non-integrative method based on the Sendai virus. Once established, iPSCs have shown full pluripotency, differentiation capacity and genetic stability...
April 5, 2018: Stem Cell Research
https://www.readbyqxmd.com/read/29628590/comparison-of-arterial-oxygenation-and-acid-base-balance-with-the-use-of-transnasal-humidified-rapid-insufflation-ventilatory-exchange-versus-tidal-volume-breathing-with-continuous-positive-airway-pressure-for-preoxygenation-and-apneic-ventilation
#11
Nandhini Joseph, Sunil Rajan, Pulak Tosh, Dilesh Kadapamannil, Lakshmi Kumar
Background: Preoxygenation and apneic ventilation prolong apnea time without desaturation. Aims: The primary objective of this study is to compare arterial oxygenation during the periods of apnea following preoxygenation and apneic ventilation with tidal volume breathing for 3 min with continuous positive airway pressure (CPAP) versus with transnasal humidified rapid-insufflation ventilatory exchange (THRIVE). Settings and Designs: This prospective randomized study was conducted in 20 adult patients at a tertiary care institution...
January 2018: Anesthesia, Essays and Researches
https://www.readbyqxmd.com/read/29614894/management-of-fetal-growth-restriction-using-the-contraction-stress-test-a-case-control-study
#12
Hiroaki Tanaka, Fumi H Furuhashi, Kuniaki Toriyabe, Takeshi Matsumoto, Shoich Magawa, Masafumi Nii, Junko Watanabe, Kayo Tanaka, Takashi Umekawa, Yuki Kamimoto, Tomoaki Ikeda
PURPOSE: Fetal growth restriction (FGR) is a concerning health issue. However, studies on FGR management are limited due to its rarity. We aimed to evaluate the efficacy of the contraction stress test (CST) for FGR management. MATERIALS AND METHODS: A case-control retrospective study design. Our institute innovated CST in FGR management in 2017. We included women in their 33rd-40th week of pregnancy with a diagnosis of FGR and retrospectively divided them into groups: the CST group (FGR management with CST) and no CST group (FGR management without CST) before and after CST development...
April 18, 2018: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29581464/whole-exome-sequencing-helps-the-diagnosis-and-treatment-in-children-with-neurodevelopmental-delay-accompanied-unexplained-dyspnea
#13
Wenjia Tong, Yajian Wang, Yun Lu, Tongsheng Ye, Conglei Song, Yuanyuan Xu, Min Li, Jie Ding, Yuanyuan Duan, Le Zhang, Weiyue Gu, Xiaoling Zhao, Xiu-An Yang, Danqun Jin
Neurodevelopmental delay accompanied unexplained dyspnea is a highly lethal disease in clinic. This study is to investigate the performance characteristics of trio whole exome sequencing (Trio-WES) in a pediatric setting by presenting our patient cohort and displaying the diagnostic yield. A total of 31 pediatric patients showing neurodevelopmental delay accompanied unexplained dyspnea were admitted to our hospital and referred for molecular genetic testing using Trio-WES. Eight genes namely MMACHC, G6PC, G6PT, ETFDH, OTC, NDUFAF5, SLC22A5, and MAGEL2 were suspected to be responsible for the onset of the clinical symptoms and 6 variants were novel...
March 26, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29581058/nuchal-cord-at-delivery-and-perinatal-outcomes-single-center-retrospective-study-with-emphasis-on-fetal-acid-base-balance
#14
REVIEW
Rohitkumar Vasa, Roger Dimitrov, Shivani Patel
AIM: Our study objectives were to evaluate umbilical cord blood acid-base balance in presence of nuchal cord at delivery, effects of nuchal cord at delivery on perinatal outcomes and incidence of nuchal cord in a racially diverse population. METHODS: Perinatal records of 2530 women (predominantly African American and Hispanic) who delivered in 2012 were examined. Perinatal outcomes of women who delivered a baby with nuchal cord were compared with those without nuchal cord...
March 5, 2018: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/29576219/bi-allelic-mutations-in-the-mitochondrial-ribosomal-protein-mrps2-cause-sensorineural-hearing-loss-hypoglycemia-and-multiple-oxphos-complex-deficiencies
#15
Thatjana Gardeitchik, Miski Mohamed, Benedetta Ruzzenente, Daniela Karall, Sergio Guerrero-Castillo, Daisy Dalloyaux, Mariël van den Brand, Sanne van Kraaij, Ellyze van Asbeck, Zahra Assouline, Marlene Rio, Pascale de Lonlay, Sabine Scholl-Buergi, David F G J Wolthuis, Alexander Hoischen, Richard J Rodenburg, Wolfgang Sperl, Zsolt Urban, Ulrich Brandt, Johannes A Mayr, Sunnie Wong, Arjan P M de Brouwer, Leo Nijtmans, Arnold Munnich, Agnès Rötig, Ron A Wevers, Metodi D Metodiev, Eva Morava
Biogenesis of the mitochondrial oxidative phosphorylation system, which produces the bulk of ATP for almost all eukaryotic cells, depends on the translation of 13 mtDNA-encoded polypeptides by mitochondria-specific ribosomes in the mitochondrial matrix. These mitoribosomes are dual-origin ribonucleoprotein complexes, which contain mtDNA-encoded rRNAs and tRNAs and ∼80 nucleus-encoded proteins. An increasing number of gene mutations that impair mitoribosomal function and result in multiple OXPHOS deficiencies are being linked to human mitochondrial diseases...
April 5, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29570701/infant-outcome-at-four-years-of-age-after-intrapartum-sampling-of-scalp-blood-lactate-for-fetal-assessment-a-cohort-study
#16
Nana Wiberg, Tobias Wirenfeldt Klausen, Tobias Tyrberg, Lennart Nordström, Eva Wiberg-Itzel
OBJECTIVE: To correlate the value of lactate in fetal scalp blood at delivery and the outcomes of the offspring at four years of age. METHODS: Cases where scalp blood lactate was taken within sixty minutes before delivery were identified from the randomized trial "Determination of pH or lactate in fetal scalp blood in management of intrapartum fetal distress". Data were grouped according to the generally accepted cutoffs for normality, pre-acidemia, acidemia and concentrations above mean +2 SD during the second stage...
2018: PloS One
https://www.readbyqxmd.com/read/29542068/high-risk-stratified-neonatal-screening
#17
(no author information available yet)
OBJECTIVES: To ascertain the proportion of neonates and infants presenting with suspicion of an inborn error of metabolism in the centers identified by ICMR for newborn screening. METHODS: A set of red flag signs suggestive IEM were listed by the Taskforce members. The age group was limited to one year as it was understood that most of the small molecules with a severe phenotype would present before the age of one year. Further investigations were tandem mass spectrometry, gas chromatography mass spectrometry and high performance liquid chromatography...
March 15, 2018: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/29510241/a-male-case-with-cdkl5-associated-encephalopathy-manifesting-transient-methylmalonic-acidemia
#18
Satoshi Akamine, Yoshito Ishizaki, Yasunari Sakai, Hiroyuki Torisu, Ryoko Fukai, Noriko Miyake, Kazuhiro Ohkubo, Hiroshi Koga, Masafumi Sanefuji, Ayumi Sakata, Masahiko Kimura, Seiji Yamaguchi, Osamu Sakamoto, Toshiro Hara, Hirotomo Saitsu, Naomichi Matsumoto, Shouichi Ohga
Mutations in the X-linked gene CDKL5 cause early-onset epileptic encephalopathy and severe developmental delay. Because this disorder predominantly affects females, the full clinical spectrum of male patients remains elusive. We herein report a 16-year-old boy, who suffered from intractable seizures 20 days after birth. Serial electroencephalograms detected recurrent focal epileptiform discharges from age 4 months, which evolved to hypsarrhythmia later in infancy. Mass-spectrometric analyses revealed increase in urinary excretion of methylmalonic acid without perturbed concentrations of propionic acid, homocystein and methionine...
March 3, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29502916/inborn-errors-of-metabolism-with-myopathy-defects-of-fatty-acid-oxidation-and-the-carnitine-shuttle-system
#19
REVIEW
Areeg El-Gharbawy, Jerry Vockley
Fatty acid oxidation disorders (FAODs) and carnitine shuttling defects are inborn errors of energy metabolism with associated mortality and morbidity due to cardiomyopathy, exercise intolerance, rhabdomyolysis, and liver disease with physiologic stress. Hypoglycemia is characteristically hypoketotic. Lactic acidemia and hyperammonemia may occur during decompensation. Recurrent rhabdomyolysis is debilitating. Expanded newborn screening can detect most of these disorders, allowing early, presymptomatic treatment...
April 2018: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/29502910/inborn-errors-of-metabolism-with-acidosis-organic-acidemias-and-defects-of-pyruvate-and-ketone-body-metabolism
#20
REVIEW
Lori-Anne P Schillaci, Suzanne D DeBrosse, Shawn E McCandless
When a child presents with high-anion gap metabolic acidosis, the pediatrician can proceed with confidence by recalling some basic principles. Defects of organic acid, pyruvate, and ketone body metabolism that present with acute acidosis are reviewed. Flowcharts for identifying the underlying cause and initiating life-saving therapy are provided. By evaluating electrolytes, blood sugar, lactate, ammonia, and urine ketones, the provider can determine the likelihood of an inborn error of metabolism. Freezing serum, plasma, and urine samples during the acute presentation for definitive diagnostic testing at the provider's convenience aids in the differential diagnosis...
April 2018: Pediatric Clinics of North America
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