Results 11 to 20 of about 1,401 (170)

Predisposition to metabolic acidosis induced by topiramate Predisposição a acidose metabólica induzida por topiramato

Arquivos de Neuro-Psiquiatria, 2000
RATIONALE: Metabolic acidosis induced by topiramate is a well documented but infrequent adverse event. The objective was to demonstrate the lowering of carbon dioxide serum levels, which is usually asymptomatic but may facilitate the occurrence of ...
MARIA AUGUSTA MONTENEGRO, MARILISA M. GUERREIRO, ANNA ELISA SCOTONI, CARLOS A.M. GUERREIRO   +3 more
doaj   +2 more sources

Acidose metabólica na infância: por que, quando e como tratá-la? Metabolic acidosis in childhood: why, when and how to treat

Jornal de Pediatria, 2007
OBJETIVO: Apresentar uma revisão atualizada e crítica sobre os mecanismos das principais patologias associadas e o tratamento da acidose metabólica, discutindo aspectos controversos quanto aos benefícios e riscos da utilização do bicarbonato de sódio e ...
Olberes V. B. Andrade, Flávio O. Ihara, Eduardo J. Troster   +2 more
doaj   +2 more sources

Acidosis dilucional, a propósito de una paciente tratada en el Hospital San Juan de Dios de Santa Fe de Bogotá

Revista de la Facultad de Medicina, 1999
La acidosis metabólica, definida como una reducción del pH arterial (pHa) de causa no respiratoria, es decir con una PaC02 < 40 mm Hg, es uno de los disbalances homeostáticos que más preocupan al clínico.
Alonso Gómez D., Gilberto Fernández R., Álvaro Gutiérrez G., Luis Carlos Daza B.   +3 more
doaj   +1 more source

Acidosis láctica severa y leucemia aguda

Anales de la Facultad de Medicina, 2004
Reportamos el caso de una paciente de 27 años de edad con leucemia linfoblástica aguda, quien presentó acidosis láctica severa como complicación metabólica. Ella acudió con desnutrición severa, anemia marcada y síndrome consuntivo.
David Loja, Maricela Vilca, Ricardo Postigo, Aimee Torres, José Alvizuri   +4 more
doaj   +3 more sources

Unmeasured anions account for most of the metabolic acidosis in patients with hyperlactatemia Ânions não mensuráveis são responsáveis pela maior parte da acidose metabólica de pacientes com hiperlactatemia

Clinics, 2007
PURPOSE: To characterize the different components of metabolic acidosis in patients with hyperlactatemia in order to determine the degree to which lactate is responsible for the acidosis and the relevance that this might have in the outcome of these ...
Alexandre Toledo Maciel, Marcelo Park
doaj   +2 more sources

Placenta Pathologies in Two Patients With Glycogen Storage Disease Type Ia and Preeclampsia. [PDF]

JIMD Rep
ABSTRACT Little is known about pregnancies and placental changes in women with glycogen storage disease type Ia (GSD Ia). We report on two primipara with GSD Ia who both developed preeclampsia and whose newborns were small for gestational age. Both placentas showed sonomorphological and macroscopical abnormalities.
Laufs V, Hasenburg A, Busch MA, Lang F, Macchiella D, Mildenberger E, Seidmann L, Hennermann JB.   +7 more
europepmc   +2 more sources

Predictors of growth patterns in children with mucopolysaccharidosis I after haematopoietic stem cell transplantation. [PDF]

JIMD Rep, 2022
Abstract Mucopolysaccharidosis type I (MPS I) is an autosomal‐recessive metabolic disorder caused by an enzyme deficiency of lysosomal alpha‐l‐iduronidase (IDUA). Haematopoietic stem cell transplantation (HSCT) is the therapeutic option of choice in MPS I patients younger than 2.5 years, which has a positive impact on neurocognitive development ...
Maier S, Zivicnjak M, Grigull L, Hennermann JB, Aries C, Maecker-Kolhoff B, Sauer M, Das AM, Beier R.   +8 more
europepmc   +2 more sources

Current Topics of Progressive Cardiac Conduction Disease [PDF]

J Arrhythm
Many genes and the protein cause PCCD. Mutation of NaV1.5 or CX40 cause isolated PCCD, but mutation of lamin A/C, emerin, or desmin lead to cardiomyopathy, and PCCD. Mutation of transcription factor NCX2‐5, and Tbx5 associated with atrial septal defect and abnormal development of conduction system.
Sumitomo N, Mori H, Kumamoto T, Ishikawa T, Seki A, Makita N, Schott J, Wilde A.   +7 more
europepmc   +2 more sources

Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment

Journal of Inherited Metabolic Disease, Volume 46, Issue 6, Page 1063-1077, November 2023., 2023
Abstract Newborn screening (NBS) allows early identification of individuals with rare disease, such as isovaleric aciduria (IVA). Reliable early prediction of disease severity of positively screened individuals with IVA is needed to guide therapeutic decision, prevent life‐threatening neonatal disease manifestation in classic IVA and over ...
Ulrike Mütze, Lucy Henze, Julian Schröter, Florian Gleich, Martin Lindner, Sarah C. Grünert, Ute Spiekerkoetter, René Santer, Eva Thimm, Regina Ensenauer, Johannes Weigel, Skadi Beblo, Maria Arélin, Julia B. Hennermann, Iris Marquardt, Peter Freisinger, Johannes Krämer, Andrea Dieckmann, Natalie Weinhold, Katharina A. Schiergens, Esther M. Maier, Georg F. Hoffmann, Sven F. Garbade, Stefan Kölker   +23 more
wiley   +1 more source

Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples

Journal of Inherited Metabolic Disease, Volume 46, Issue 6, Page 1043-1062, November 2023., 2023
Abstract Analytical and therapeutic innovations led to a continuous but variable extension of newborn screening (NBS) programmes worldwide. Every extension requires a careful evaluation of feasibility, diagnostic (process) quality and possible health benefits to balance benefits and limitations.
Esther M. Maier, Ulrike Mütze, Nils Janzen, Ulrike Steuerwald, Uta Nennstiel, Birgit Odenwald, Elfriede Schuhmann, Amelie S. Lotz‐Havla, Katharina J. Weiss, Johanna Hammersen, Corina Weigel, Eva Thimm, Sarah C. Grünert, Julia B. Hennermann, Peter Freisinger, Johannes Krämer, Anibh M. Das, Sabine Illsinger, Gwendolyn Gramer, Junmin Fang‐Hoffmann, Sven F. Garbade, Jürgen G. Okun, Georg F. Hoffmann, Stefan Kölker, Wulf Röschinger   +24 more
wiley   +1 more source