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Elli Toivonen, Outi Palomäki, Heini Huhtala, Jukka Uotila
BACKGROUND: The safety of vaginal breech delivery has been debated for decades. Although it has been shown to predispose infants to immediate depression, several observational studies have also shown that attempting vaginal breech delivery does not increase perinatal morbidity or low Apgar score at the age of five minutes. Cardiotocography monitoring is recommended during vaginal breech delivery, but comparative data describing differences between cardiotocography tracings in breech and vertex deliveries is scarce...
October 21, 2016: BMC Pregnancy and Childbirth
Sabina Martí Gamboa, Jara Pascual Mancho, María Rodrigo Rodríguez, Julia Ruiz Sada, Sergio Castán Mateo
OBJECTIVE: To determine which parameter of the umbilical arterial cord gas analysis, pH, base deficit (BD) or lactate has a bigger predictive ability for neonatal morbidity at term. METHOD: We conducted a four year retrospective cohort study including all non-anomalous, singleton, vertex, term births with neonatal acidemia (umbilical arterial cord gas pH ≤ 7.1). The primary outcomes were a composite neurological morbidity and a composite systemic morbidity. The predictive ability of lactate, BD and pH were compared using ROC curves...
October 19, 2016: Journal of Maternal-fetal & Neonatal Medicine
Steven L Clark, Emily Hamilton, Thomas J Garite, Audra Timmins, Philip A Warrick, Samuel Smith
BACKGROUND: Despite intensive efforts directed at initial training in fetal heart rate interpretation, continuing medical education, board certification/recertification, team training and the development of specific protocols for the management of abnormal fetal heart rate patterns, the goals of consistently preventing hypoxia-induced fetal metabolic acidemia and neurologic injury remain elusive. OBJECTIVE: To validate a recently published algorithm for the management of category II fetal heart rate tracings , examine reasons for the birth of infants with significant metabolic acidemia despite the use of electronic fetal heart rate monitoring and critically examine the limits of EFHRM in the prevention of neonatal metabolic acidemia...
October 14, 2016: American Journal of Obstetrics and Gynecology
Yue Liu, Hua Wang, Ya-Li Wang
No abstract text is available yet for this article.
October 2016: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
Samara L Potter, Rajkumar Venkatramani, Scott Wenderfer, Brett H Graham, Sanjeev A Vasudevan, Andrew Sher, Hao Wu, David A Wheeler, Yaping Yang, Christine M Eng, Richard A Gibbs, Angshumoy Roy, Sharon E Plon, D Williams Parsons
Pediatric renal cell carcinoma (RCC) is a rare cancer that can be associated with inherited diseases including tuberous sclerosis complex (TSC) caused by germline mutations in TSC1 or TSC2. Somatic mutations in TSC1 and TSC2 have also been reported in adult RCC, which predict response to mTOR inhibitors. Here, we present the first case of RCC in a child with methylmalonic acidemia (MMA). Clinical whole exome sequencing of blood and tumor samples confirmed the diagnosis of MMA and revealed two somatic inactivating mutations in TSC2, suggesting the potential consideration of an mTOR inhibitor in the event of tumor recurrence...
October 17, 2016: Pediatric Blood & Cancer
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
Judith A Hobert, Aiping Liu, Marzia Pasquali
Quantitative analysis of urine acylglycines has shown to be a highly sensitive and specific method with proven clinical utility for the diagnosis of several inherited metabolic disorders including: medium chain acyl-CoA dehydrogenase deficiency, multiple acyl-CoA dehydrogenase deficiency, short chain acyl-CoA dehydrogenase deficiency, 3-methylcrotonyl-CoA carboxylase deficiency, 2-methylbutyryl-CoA dehydrogenase deficiency, isovaleric acidemia, propionic academia, and isobutyryl-CoA dehydrogenase deficiency...
October 11, 2016: Current Protocols in Human Genetics
Mika Ishige, Tatsuo Fuchigami, Erika Ogawa, Hiromi Usui, Ryutaro Kohira, Yoriko Watanabe, Shori Takahashi
Glutaric acidemia type 1 is a rare autosomal recessive disease caused by a deficiency of glutaryl-CoA dehydrogenase. Previous studies have reported subdural hemorrhage in untreated patients with glutaric acidemia type 1. However, there is only one report of severe acute subdural hemorrhage after minor head trauma in a patient with glutaric acidemia type 1 under guideline-recommended treatment. We report a second case of life-threatening severe acute subdural hemorrhage after a minor head trauma in a patient with glutaric acidemia type 1...
October 8, 2016: Pediatric Neurosurgery
Angela Hua, Stephen Haight, Robert S Hoffman, Alex F Manini
BACKGROUND: Drug overdose is the leading cause of injury-related fatality in the United States, and respiratory failure remains a major source of morbidity and mortality. OBJECTIVES: We aimed to identify the incidence and risk factors for endotracheal intubation after acute drug overdose. METHODS: This secondary data analysis was performed on a 5-year prospective cohort at two urban tertiary-care hospitals. The present study analyzed adult patients with suspected acute drug overdose to derive independent clinical predictors of endotracheal intubation...
October 4, 2016: Journal of Emergency Medicine
Silvia Olivera-Bravo, Eugenia Isasi, Anabel Fernández, Gabriela Casanova, Juan Carlos Rosillo, Luigi Barbeito
Astrocytes play crucial roles in maintaining brain homeostasis and in orchestrating neural development, all through tightly coordinated steps that cooperate to maintain the balance needed for normal development. Here, we review the alterations in astrocyte functions that contribute to a variety of developmental neurometabolic disorders and provide additional data on the predominant role of astrocyte dysfunction in the neurometabolic neurodegenerative disease glutaric acidemia type I. Finally, we describe some of the therapeutical approaches directed to neurometabolic diseases and discuss if astrocytes can be possible therapeutic targets for treating these disorders...
2016: Advances in Experimental Medicine and Biology
Paula J Waters, Fanny Thuriot, Joe T R Clarke, Serge Gravel, David Watkins, David S Rosenblatt, Sébastien Lévesque
Methylmalonyl-coA epimerase (MCE) follows propionyl-coA carboxylase and precedes methylmalonyl-coA mutase in the pathway converting propionyl-coA to succinyl-coA. MCE deficiency has previously been described in six patients, one presenting with metabolic acidosis, the others with nonspecific neurological symptoms or asymptomatic. The clinical significance and biochemical characteristics of this rare condition have been incompletely defined. We now describe a patient who presented acutely at 5 years of age with vomiting, dehydration, confusion, severe metabolic acidosis and mild hyperammonemia...
December 2016: Molecular Genetics and Metabolism Reports
Abdullah K Al-Hwiesh, Ibrahiem S Abdul-Rahman, Abdul-Salam Noor, Mohammed A Nasr-El-Deen, Abdalla Abdelrahman, Tamer S El-Salamony, Fahd A Al-Muhanna, Khalid M Al-Otaibi, Nehad Al-Audah
♦ Objective: Metformin continues to be the safest and most widely used antidiabetic drug. In spite of its well-known benefits; metformin use in end-stage renal disease (ESRD) patients is still restricted. Little has been reported about the effect of peritoneal dialysis (PD) on metformin clearance and the phantom of lactic acidosis deprives ESRD patients from metformin therapeutic advantages. Peritoneal dialysis is probably a safeguard against lactic acidosis, and it is likely that using this drug would be feasible in this group of patients...
September 28, 2016: Peritoneal Dialysis International: Journal of the International Society for Peritoneal Dialysis
Raashda Ainuddin Sulaiman, Marwan Yassin Shaheen, Hamad Al-Zaidan, Zuhair Al-Hassnan, Moeenaldeen Al-Sayed, Zuhair Rahbeeni, Nasir Ahmed Bakshi, Namik Kaya, Mazhor Aldosary, Mohammed Al-Owain
We report an unusual case of recurrent encephalopathy due to acquired hemophagocytic lymphohistiocytosis (HLH) in a patient with propionic acidemia (PA). PA is an inherited metabolic disorder in which patients often present with encephalopathy and pancytopenia during metabolic decompensation. However, these patients may rarely develop HLH with similar presentation. This case illustrates the need to distinguish HLH induced encephalopathy from the one secondary to metabolic decompensation in these patients, as early diagnosis and treatment of HLH improves prognosis...
August 2016: Intractable & Rare Diseases Research
Rieko Sakamoto, Kimitoshi Nakamura, Jun Kido, Shiro Matsumoto, Hiroshi Mitsubuchi, Yukihiro Inomata, Fumio Endo
Liver transplant is a treatment option for patients with MMA-emia. While this therapy does not bring about a complete cure, it is expected to prolong survival and improve the QOL of patients. The aim of this study was to evaluate the significance of LDLT for patients with MMA-emia in Japan. Clinical information on 13 patients with MMA-emia who underwent LDLT was acquired using a self-developed questionnaire sent to the doctors who provided medical care to patients with MMA-emia after LDLT. Almost all of the patients continued on a protein-restricted diet, and the number of acidosis attacks had significantly decreased...
September 26, 2016: Pediatric Transplantation
Majid Alfadhel, Mohammed Benmeakel, Mohammad Arif Hossain, Fuad Al Mutairi, Ali Al Othaim, Ahmed A Alfares, Mohammed Al Balwi, Abdullah Alzaben, Wafaa Eyaid
BACKGROUND: Inborn errors of metabolism (IEMs) are individually rare; however, they are collectively common. More than 600 human diseases caused by inborn errors of metabolism are now recognized, and this number is constantly increasing as new concepts and techniques become available for identifying biochemical phenotypes. The aim of this study was to determine the type and distribution of IEMs in patients presenting to a tertiary care center in Saudi Arabia. METHOD: We conducted a retrospective review of children diagnosed with IEMs presenting to the Pediatric Department of King Abdulaziz Medical City in Riyadh, Saudi Arabia over a 13-year period...
2016: Orphanet Journal of Rare Diseases
Matthieu Lacroix, Geneviève Rodier, Olivier Kirsh, Thibault Houles, Hélène Delpech, Berfin Seyran, Laurie Gayte, Francois Casas, Laurence Pessemesse, Maud Heuillet, Floriant Bellvert, Jean-Charles Portais, Charlene Berthet, Florence Bernex, Michele Brivet, Audrey Boutron, Laurent Le Cam, Claude Sardet
The mitochondrial pyruvate dehydrogenase (PDH) complex (PDC) acts as a central metabolic node that mediates pyruvate oxidation and fuels the tricarboxylic acid cycle to meet energy demand. Here, we reveal another level of regulation of the pyruvate oxidation pathway in mammals implicating the E4 transcription factor 1 (E4F1). E4F1 controls a set of four genes [dihydrolipoamide acetlytransferase (Dlat), dihydrolipoyl dehydrogenase (Dld), mitochondrial pyruvate carrier 1 (Mpc1), and solute carrier family 25 member 19 (Slc25a19)] involved in pyruvate oxidation and reported to be individually mutated in human metabolic syndromes...
September 27, 2016: Proceedings of the National Academy of Sciences of the United States of America
María Luisa Martínez, Ricard Ferrer, Eva Torrents, Raquel Guillamat-Prats, Gemma Gomà, David Suárez, Luis Álvarez-Rocha, Juan Carlos Pozo Laderas, Ignacio Martín-Loeches, Mitchell M Levy, Antonio Artigas
OBJECTIVES: Time to clearance of pathogens is probably critical to outcome in septic shock. Current guidelines recommend intervention for source control within 12 hours after diagnosis. We aimed to determine the epidemiology of source control in the management of sepsis and to analyze the impact of timing to source control on mortality. DESIGN: Prospective observational analysis of the Antibiotic Intervention in Severe Sepsis study, a Spanish national multicenter educational intervention to improve antibiotherapy in sepsis...
September 8, 2016: Critical Care Medicine
Chandrawati Kumari, Bijo Varughese, Siddarth Ramji, Seema Kapoor
Pre analytical process of extraction for accurate detection of organic acids is a crucial step in diagnosis of organic acidemias by GCMS analysis. This process is accomplished either by solid phase extraction (SPE) or by liquid-liquid extraction (LLE). Both extraction procedures are used in different metabolic laboratories all over the world. In this study we compared these two extraction procedures in respect of precision, accuracy, percent recovery of metabolites, number of metabolites isolated, time and cost in a resource constraint setup...
October 2016: Indian Journal of Clinical Biochemistry: IJCB
Kamel S Kamel, Martin Schreiber, Ana P C P Carlotti, Mitchell L Halperin
Diabetic ketoacidosis (DKA), a common cause of severe metabolic acidosis, remains a life-threatening condition due to complications of both the disease and its treatment. This Acid-Base and Electrolyte Teaching Case discusses DKA management, emphasizing complications of treatment. Because cerebral edema is the most common cause of mortality and morbidity, especially in children with DKA, we emphasize its pathophysiology and implications for therapy. The risk for cerebral edema may be minimized by avoiding a bolus of insulin, excessive saline resuscitation, and a decrease in effective plasma osmolality early in treatment...
September 3, 2016: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
C Racinet, J-F Peresse, G Richalet, C Corne, P Ouellet
OBJECTIVE: To apply a newly concept of neonatal eucapnic pH at birth [pH euc (n)] and compare its contribution towards conventional criteria of severe metabolic acidosis. METHODS: Analysis of a cohort of 5392 neonates from 2010 to 2014 in a level 1 maternity. clinical data (birth weight, gestational age, mode of delivery, APGAR score) were collected from archived files. Biological data were collected from umbilical cord blood, consisting of pH, PCO2, Base deficit, lactate...
September 2016: Gynécologie, Obstétrique & Fertilité
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