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https://www.readbyqxmd.com/read/29142379/dyspnea-eosinopenia-consolidation-acidemia-and-atrial-fibrillation-score-and-bap-65-score-tools-for-prediction-of-mortality-in-acute-exacerbations-of-chronic-obstructive-pulmonary-disease-a-comparative-pilot-study
#1
Viral Sangwan, Dhruva Chaudhry, Roopa Malik
Introduction: Acute exacerbations of chronic obstructive pulmonary disease (AECOPD) being common and often fatal, prognostic tools in AECOPD are lacking. Materials and Methods: A prospective, observational study was carried out in fifty patients of AECOPD admitted in A and E department. Dyspnea, Eosinopenia, Consolidation, Acidemia and atrial Fibrillation (DECAF) score and elevated blood urea nitrogen, altered mental status, pulse >109, age >65 (BAP-65) score were calculated...
October 2017: Indian Journal of Critical Care Medicine
https://www.readbyqxmd.com/read/29111448/next-generation-sequencing-as-a-follow-up-test-in-an-expanded-newborn-screening-programme
#2
Smon Andraz, Repic Lampret Barbka, Groselj Urh, Zerjav Tansek Mojca, Kovac Jernej, Perko Dasa, Bertok Sara, Battelino Tadej, Trebusak Podkrajsek Katarina
OBJECTIVES: Contrary to many western European countries, most south-eastern European countries do not have an expanded newborn screening (NBS) program using tandem mass spectrometry. This study would represent one of the first expanded NBS studies in south-eastern Europe and will enable the estimation of the incidences of IEM in Slovenia. We proposed an expanded NBS approach including next-generation sequencing (NGS) as a confirmational analysis. DESIGN & METHODS: We conducted a pilot study of expanded NBS for selected inborn errors of metabolism (IEM) in Slovenia including 10,048 NBS cards...
October 27, 2017: Clinical Biochemistry
https://www.readbyqxmd.com/read/29107602/maternal-ophthalmic-artery-doppler-ultrasonography-in-preeclampsia-and-pregnancy-outcomes
#3
Maria Teresa Pedrazzi Chaves, Sérgio Martins-Costa, Maria Lúcia da Rocha Oppermann, Ricardo Palma Dias, Valentino Magno, Julio Alejandro Peña, José Geraldo Lopes Ramos
OBJECTIVE: To examine the association of ophthalmic artery (OA) Doppler measure - the ratio of velocity peaks (PR) - to adverse pregnancy outcomes in preeclampsia. STUDY DESIGN AND MAIN OUTCOMES: Prospective cohort study of 56 women with preeclampsia that underwent Doppler measurements of OA flow, medial to optic nerve. PR results were classified as normal (PR < 0.78), abnormal (PR 0.78-0.98), or highly abnormal (PR ≥ 0.99). Attending clinicians were blinded to OA Doppler results...
October 19, 2017: Pregnancy Hypertension
https://www.readbyqxmd.com/read/29078943/update-on-fetal-monitoring-overview-of-approaches-and-management-of-category-ii-tracings
#4
REVIEW
Nandini Raghuraman, Alison G Cahill
Electronic fetal monitoring (EFM) is widely used to assess fetal status in labor. Use of intrapartum continuous EFM is associated with a lower risk of neonatal seizures but a higher risk of cesarean or operative delivery. Category II fetal heart tracings (FHTs) are indeterminate in their ability to predict fetal acidemia. Certain patterns of decelerations and variability within this category may be predictive of neonatal morbidity. Adjunct tests of fetal well-being can be used during labor to further triage patients...
December 2017: Obstetrics and Gynecology Clinics of North America
https://www.readbyqxmd.com/read/29068997/atypical-hemolytic-uremic-syndrome-induced-by-cblc-subtype-of-methylmalonic-academia-a-case-report-and-literature-review
#5
REVIEW
Minguang Chen, Jieqiu Zhuang, JianHuan Yang, Dexuan Wang, Qing Yang
RATIONALE: Methylmalonic acidemia (MMA) is a common organic acidemia, mainly due to methylmalonyl-CoA mutase (MCM) or its coenzyme cobalamin (VitB12) metabolic disorders. Cobalamin C (CblC) type is the most frequent inborn error of cobalamin metabolism; it can develop symptoms in childhood and often combine multisystem damage, which leads to methylmalonic acid, propionic acid, methyl citrate, and other metabolites abnormal accumulation, causing nerve, liver, kidney, bone marrow, and other organ damage...
October 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29059480/renal-insufficiency-mimicking-glutaric-acidemia-type-1-in-newborn-screening
#6
Masaaki Matsumoto, Hiroyuki Awano, Ryosuke Bo, Masashi Nagai, Kazumi Tomioka, Masahiro Nishiyama, Takeshi Ninchouji, Hiroaki Nagase, Mariko Yagi, Ichiro Morioka, Yuki Hasegawa, Yasuhiro Takeshima, Kazumoto Iijima
BACKGROUND: Glutaryl carnitine (C5DC) in dried blood spots is used as a biomarker for glutaric aciduria type 1 (GA-1) screening. Since C5DC is the only screening marker for this condition, various pathological conditions may interfere with C5DC metabolism. Recently, it has been reported that cases of renal insufficiency showed C5DC elevation. METHOD: Five cases who were positive for GA-1 via newborn screening using tandem mass spectrometry from September 2012 to March 2015 in our institute were enrolled in this study...
October 23, 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/29042959/diagnosis-of-cobalamin-c-deficiency-with-renal-abnormality-from-onset-in-a-chinese-child-by-next-generation-sequencing-a-case-report
#7
Qiuxia Chen, Huaying Bao, Hongmei Wu, Sanlong Zhao, Songming Huang, Fei Zhao
The aim of the present study was to present the diagnosis and treatment course of a patient with cobalamin C deficiency (cblC) hospitalized with renal function abnormality from the onset. A female, 7-year-old patient who presented with a cough and progressive dyspnea for 1 day was admitted to the Children's Hospital of Nanjing Medical University (Nanjing, China). A routine clinical examination was performed, including physical examination, routine blood and urine tests, blood gas analysis, computed tomography scans of the head, chest and abdomen, electrocardiogram, echocardiography and abdominal ultrasonography...
October 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29035969/effects-of-medical-food-leucine-content-in-the-management-of-methylmalonic-and-propionic-acidemias
#8
Jennifer G Myles, Irini Manoli, Charles P Venditti
PURPOSE OF REVIEW: The current review highlights the varied effects of medical foods high in leucine (Leu) and devoid of valine (Val) and isoleucine (Ile) in the management of methylmalonic acidemia (MMA) and propionic acidemia and cobalamin C (cblC) deficiency, aiming to advance dietary practices. RECENT FINDINGS: Leu is a key metabolic regulator with a multitude of effects on different organ systems. Recent observational studies have demonstrated that these effects can have unintended consequences in patients with MMA as a result of liberal use of medical foods...
October 14, 2017: Current Opinion in Clinical Nutrition and Metabolic Care
https://www.readbyqxmd.com/read/29033250/propionyl-coa-carboxylase-a-review
#9
REVIEW
Parith Wongkittichote, Nicholas Ah Mew, Kimberly A Chapman
Propionyl-CoA carboxylase (PCC) is the enzyme which catalyzes the carboxylation of propionyl-CoA to methylmalonyl-CoA and is encoded by the genes PCCA and PCCB to form a hetero-dodecamer. Dysfunction of PCC leads to the inherited metabolic disorder propionic acidemia, which can result in an affected individual presenting with metabolic acidosis, hyperammonemia, lethargy, vomiting and sometimes coma and death if not treated. Individuals with propionic acidemia also have a number of long term complications resulting from the dysfunction of the PCC enzyme...
October 7, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29021961/dietary-practices-in-propionic-acidemia-a-european-survey
#10
A Daly, A Pinto, S Evans, M F Almeida, M Assoun, A Belanger-Quintana, S M Bernabei, S Bollhalder, D Cassiman, H Champion, H Chan, J Dalmau, F de Boer, C de Laet, A de Meyer, A Desloovere, A Dianin, M Dixon, K Dokoupil, S Dubois, F Eyskens, A Faria, I Fasan, E Favre, F Feillet, A Fekete, G Gallo, C Gingell, J Gribben, K Kaalund Hansen, N M Ter Horst, C Jankowski, R Janssen-Regelink, I Jones, C Jouault, G E Kahrs, I L Kok, A Kowalik, C Laguerre, S Le Verge, R Lilje, C Maddalon, D Mayr, U Meyer, A Micciche, U Och, M Robert, J C Rocha, H Rogozinski, C Rohde, K Ross, I Saruggia, A Schlune, K Singleton, E Sjoqvist, R Skeath, L H Stolen, A Terry, C Timmer, L Tomlinson, A Tooke, K Vande Kerckhove, E van Dam, T van den Hurk, L van der Ploeg, M van Driessche, M van Rijn, A van Wegberg, C Vasconcelos, H Vestergaard, I Vitoria, D Webster, F J White, L White, H Zweers, A MacDonald
BACKGROUND: The definitive dietary management of propionic acidaemia (PA) is unknown although natural protein restriction with adequate energy provision is of key importance. AIM: To describe European dietary practices in the management of patients with PA prior to the publication of the European PA guidelines. METHODS: This was a cross-sectional survey consisting of 27 questions about the dietary practices in PA patients circulated to European IMD dietitians and health professionals in 2014...
December 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28993038/capnography-in-the-emergency-department-a-review-of-uses-waveforms-and-limitations
#11
Brit Long, Alex Koyfman, Michael A Vivirito
BACKGROUND: Capnography has many uses in the emergency department (ED) and critical care setting, most commonly cardiac arrest and procedural sedation. OBJECTIVE OF THE REVIEW: This review evaluates several indications concerning capnography beyond cardiac arrest and procedural sedation in the ED, as well as limitations and specific waveforms. DISCUSSION: Capnography includes the noninvasive measurement of CO2, providing information on ventilation, perfusion, and metabolism in intubated and spontaneously breathing patients...
October 6, 2017: Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28984630/perioperative-management-of-the-adult-patient-on-venovenous-extracorporeal-membrane-oxygenation-requiring-noncardiac-surgery
#12
Michael A Fierro, Mani A Daneshmand, Raquel R Bartz
The use of venovenous extracorporeal membrane oxygenation is increasing worldwide. These patients often require noncardiac surgery. In the perioperative period, preoperative assessment, patient transport, choice of anesthetic type, drug dosing, patient monitoring, and intraoperative and postoperative management of common patient problems will be impacted. Furthermore, common monitoring techniques will have unique limitations. Importantly, patients on venovenous extracorporeal membrane oxygenation remain subject to hypoxemia, hypercarbia, and acidemia in the perioperative setting despite extracorporeal support...
October 4, 2017: Anesthesiology
https://www.readbyqxmd.com/read/28977297/initial-clinical-presentation-in-cases-of-inborn-errors-of-metabolism-in-a-reference-children-s-hospital-still-a-diagnostic-challenge
#13
Andressa Romão, Priscila Endlich Alves Simon, José Eduardo Coutinho Góes, Louise Lapagessede Camargo Pinto, Roberto Giugliani, Gisele Rozone de Luca, Francisca Ligia Cirilo Carvalho
OBJECTIVE: To assess the initial clinical presentation of confirmed cases of inborn errors of metabolism (IEM) at a reference facility for pediatric care. METHODS: Cross-sectional, observational and descriptive study with data collection of outpatients, from January 2009 to December 2013. Inclusion criterion: referral to IEM investigation. Exclusion criterion: prior diagnosis of IEM. Analyzed variables: identification data; status of diagnostic investigation; family history of IEM; initial clinical presentation, laboratory abnormalities related to the hypothesis of IEM...
July 2017: Revista Paulista de Pediatria: Orgão Oficial da Sociedade de Pediatria de São Paulo
https://www.readbyqxmd.com/read/28963562/association-between-exposure-to-air-pollution-during-pregnancy-and-false-positives-in-fetal-heart-rate-monitoring
#14
Seiichi Morokuma, Takehiro Michikawa, Shin Yamazaki, Hiroshi Nitta, Kiyoko Kato
Fetal heart rate (FHR) monitoring is essential for fetal management during pregnancy and delivery but results in many false-positive diagnoses. Air pollution affects the uterine environment; thus, air pollution may change FHR reactivity. This study assessed the association between exposure to air pollution during pregnancy and FHR monitoring abnormalities using 2005-2010 data from the Japan Perinatal Registry Network database. Participants were 23,782 singleton pregnant women with FHR monitoring, without acidemia or fetal asphyxia...
September 29, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28957333/association-between-mortality-and-replacement-solution-bicarbonate-concentration-in-continuous-renal-replacement-therapy-a-propensity-matched-cohort-study
#15
Kianoush Kashani, Charat Thongprayoon, Wisit Cheungpasitporn, Gina M Iacovella, Abbasali Akhoundi, Robert C Albright
BACKGROUND: Given the known deleterious effects seen with bicarbonate supplementation for acidemia, we hypothesized that utilizing high bicarbonate concentration replacement solution in continuous venovenous hemofiltration (CVVH) would be independently associated with higher mortality. METHODS: In a propensity score-matched historical cohort study conducted at a single tertiary care center from December 9, 2006, through December 31, 2009, a total of 287consecutive adult critically ill patients with Stage III acute kidney injury (AKI) requiring CVVH were enrolled...
2017: PloS One
https://www.readbyqxmd.com/read/28951466/emergency-department-blood-gas-utilization-and-changes-in-ventilator-settings
#16
Haitham S Al Ashry, Jeremy B Richards, Daniel F Fisher, Jeffrey Sankoff, Todd A Seigel, Lauren B Angotti, Susan R Wilcox
BACKGROUND: Mechanically ventilated patients increasingly spend hours in emergency department beds before ICU admission. This study evaluated the performance of blood gases in mechanically ventilated subjects in the emergency department and subsequent changes to mechanical ventilation settings. METHODS: This was a multi-center, prospective, observational study of subjects ventilated in the emergency department, conducted at 3 academic emergency departments from July 2011 to March 2013...
September 26, 2017: Respiratory Care
https://www.readbyqxmd.com/read/28940506/molecular-and-clinical-spectra-of-fbxl4-deficiency
#17
Ayman W El-Hattab, Hongzheng Dai, Mohammed Almannai, Julia Wang, Eissa A Faqeih, Ali Al Asmari, Mohammed A M Saleh, Mohammed A O Elamin, Majid Alfadhel, Fowzan S Alkuraya, Mais Hashem, Mazhor S Aldosary, Rawan Almass, Faten B Almutairi, Maysoon Alsagob, Mohammed Al-Owain, Shirin Al-Sharfa, Zuhair N Al-Hassnan, Zuhair Rahbeeni, Mohammed A Al-Muhaizea, Nawal Makhseed, Gretchen K Foskett, David A Stevenson, Natalia Gomez-Ospina, Chung Lee, Richard G Boles, Samantha A Schrier Vergano, Saskia B Wortmann, Wolfgang Sperl, Thomas Opladen, Georg F Hoffmann, Maja Hempel, Holger Prokisch, Bader Alhaddad, Johannes A Mayr, Wenyaw Chan, Namik Kaya, Lee-Jun C Wong
F-box and leucine-rich repeat protein 4 (FBXL4) is a mitochondrial protein whose exact function is not yet known. However, cellular studies have suggested that it plays significant roles in mitochondrial bioenergetics, mitochondrial DNA (mtDNA) maintenance, and mitochondrial dynamics. Biallelic pathogenic variants in FBXL4 are associated with an encephalopathic mtDNA maintenance defect syndrome that is a multisystem disease characterized by lactic acidemia, developmental delay, and hypotonia. Other features are feeding difficulties, growth failure, microcephaly, hyperammonemia, seizures, hypertrophic cardiomyopathy, elevated liver transaminases, recurrent infections, variable distinctive facial features, white matter abnormalities and cerebral atrophy found in neuroimaging, combined deficiencies of multiple electron transport complexes, and mtDNA depletion...
September 22, 2017: Human Mutation
https://www.readbyqxmd.com/read/28931047/association-between-perinatal-hypoxic-ischemia-and-periventricular-leukomalacia-in-preterm-infants-a-systematic-review-and-meta-analysis
#18
REVIEW
Jichong Huang, Li Zhang, Bingyao Kang, Tingting Zhu, Yafei Li, Fengyan Zhao, Yi Qu, Dezhi Mu
BACKGROUND: Although investigators have implicated hypoxic-ischemia (HI) as a potential cause of periventricular leukomalacia (PVL), the role of clinical risk factors or markers for HI in the development of PVL remains controversial. The aim of this study was to identify perinatal HI-related factors associated with PVL. METHOD: The PubMed, EMBASE, and Cochrane Library databases were searched. The last search was performed on January 2017. Summary effect estimates (pooled odds ratios [ORs]) were calculated for each risk factor using fixed or random effects models with tests for heterogeneity and publication bias...
2017: PloS One
https://www.readbyqxmd.com/read/28925364/generation-and-characterization-of-a-human-ipsc-line-from-a-patient-with-propionic-acidemia-due-to-defects-in-the-pcca-gene
#19
Esmeralda Alonso-Barroso, Sandra Brasil, Álvaro Briso-Montiano, Rosa Navarrete, Celia Pérez-Cerdá, Magdalena Ugarte, Belén Pérez, Lourdes R Desviat, Eva Richard
Human induced pluripotent stem cell (iPSC) line was generated from fibroblasts of a patient with propionic acidemia carrying mutations in the PCCA gene: c.1899+4_1899+7delAGTA; p.(Cys616_Val633del) and c.1430--?_1643+?del; p.(Gly477Glufs*9). 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.
August 2017: Stem Cell Research
https://www.readbyqxmd.com/read/28918066/enzymatic-testing-sensitivity-variability-and-practical-diagnostic-algorithm-for-pyruvate-dehydrogenase-complex-pdc-deficiency
#20
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
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