Results 31 to 40 of about 2,734,131 (399)

The local health impacts of natural resource booms

Health Economics, Volume 32, Issue 2, Page 462-500, February 2023., 2023
Abstract This paper uses novel micro‐data on natural resources and administrative health data in Brazil to study how economic booms in minerals affect health at birth. By implementing a reduced‐form estimation of shift‐share research designs, the identification strategy relies on the exogeneity of global commodity prices to municipality‐specific health
Elisa M. Maffioli
wiley   +1 more source

Risk factors and birth prevalence of birth defects and inborn errors of metabolism in Al Ahsa, Saudi Arabia [PDF]

, 2011
BACKGROUND: Birth defects and inborn errors of metabolism are related to variable poor perinatal and neonatal outcomes. Our aim was to explore the pattern and prevalence of birth defects and metabolic birth errors in Al-Ahsa Governorate in the Eastern ...
Al Bu Ali, Waleed Hamad, Al Moghannum, Mohammed Saleh, Balaha, Magdy Hassan, Hashim, Ibrahim   +3 more
core   +3 more sources

ALK1 controls hepatic vessel formation, angiodiversity, and angiocrine functions in hereditary hemorrhagic telangiectasia of the liver

Hepatology, EarlyView., 2022
Hepatic endothelial Alk1 signaling protects from development of vascular malformations while maintaining organ‐specific endothelial differentiation and angiocrine portmanteau of the names Wingless and Int‐1 signaling. Abstract Background and Aims In hereditary hemorrhagic telangiectasia (HHT), severe liver vascular malformations are associated with ...
Christian David Schmid, Victor Olsavszky, Manuel Reinhart, Vanessa Weyer, Felix A. Trogisch, Carsten Sticht, Manuel Winkler, Sina W. Kürschner, Johannes Hoffmann, Roxana Ola, Theresa Staniczek, Joerg Heineke, Beate K. Straub, Jens Mittler, Kai Schledzewski, Peter ten Dijke, Karsten Richter, Steven Dooley, Cyrill Géraud, Sergij Goerdt, Philipp‐Sebastian Koch   +20 more
wiley   +1 more source

A proposed nosology of inborn errors of metabolism

Genetics in Medicine, 2018
We propose a nosology for inborn errors of metabolism that builds on their recent redefinition. We established a strict definition of criteria to develop a self-consistent schema for inclusion of a disorder into the nosology.
C. Ferreira, C. V. van Karnebeek, J. Vockley, N. Blau   +3 more
semanticscholar   +1 more source

Network effects lead to self-organization in metabolic cycles of self-repelling catalysts [PDF]

Phys. Rev. Lett. 131, 128301 (2023), 2023
Mixtures of particles that interact through phoretic effects are known to aggregate if they belong to species that exhibit attractive self-interactions. We study self-organization in a model metabolic cycle composed of three species of catalytically-active particles that are chemotactic towards the chemicals that define their connectivity network.
arxiv   +1 more source

Juvenile mucopolysaccharidosis plus disease caused by a missense mutation in VPS33A

Human Mutation, Volume 43, Issue 12, Page 2265-2278, December 2022., 2022
Abstract A rare and fatal disease resembling mucopolysaccharidosis in infants, is caused by impaired intracellular endocytic trafficking due to deficiency of core components of the intracellular membrane‐tethering protein complexes, HOPS, and CORVET. Whole exome sequencing identified a novel VPS33A mutation in a patient suffering from a variant form of
Elena V. Pavlova, Dorit Lev, Marina Michelson, Keren Yosovich, Hila Gur Michaeli, Nicholas A. Bright, Paul T. Manna, Veronica Kane Dickson, Karen L. Tylee, Heather J. Church, J. Paul Luzio, Timothy M. Cox   +11 more
wiley   +1 more source

Expanded newborn screening for inborn errors of metabolism by tandem mass spectrometry in newborns from Xinxiang city in China

Journal of clinical laboratory analysis (Print), 2020
Tandem mass spectrometry is a powerful technology available in China over the last 15 years. The development of tandem mass spectrometry had made it possible to rapidly screen newborns for inborn errors of metabolism.
Shujun Ma, Qinghe Guo, Zhongxin Zhang, Zhian He, Aizhi Yue, Zhishan Song, Qingwei Zhao, Xia Wang, Ruili Sun   +8 more
semanticscholar   +1 more source

Dietary Treatment from Birth to Pregnancy in a Woman with Methylmalonic Aciduria

Medicina, 2021
Methylmalonic aciduria is treated with a natural protein-restricted diet with adequate energy intake to sustain metabolic balance. Natural protein is a source of methylmalonic acid precursors, and intake is individually modified according to the severity
Agnieszka Kowalik, Anita MacDonald, Jolanta Sykut-Cegielska   +2 more
doaj   +1 more source

Contributing Components of Metabolic Energy Models to Metabolic Cost Estimations in Gait [PDF]

, 2023
Objective: As metabolic cost is a primary factor influencing humans' gait, we want to deepen our understanding of metabolic energy expenditure models. Therefore, this paper identifies the parameters and input variables, such as muscle or joint states, that contribute to accurate metabolic cost estimations.
arxiv   +1 more source

Lipopolysaccharide‐Induced Bone Loss in Rodent Models: A Systematic Review and Meta‐Analysis

Journal of Bone and Mineral Research, Volume 38, Issue 1, Page 198-213, January 2023., 2023
ABSTRACT Osteoporosis has traditionally been characterized by underlying endocrine mechanisms, though evidence indicates a role of inflammation in its pathophysiology. Lipopolysaccharide (LPS), a component of gram‐negative bacteria that reside in the intestines, can be released into circulation and stimulate the immune system, upregulating bone ...
Kirsten N. Bott, Evelyn Feldman, Russell J. de Souza, Elena M. Comelli, Panagiota Klentrou, Sandra J. Peters, Wendy E. Ward   +6 more
wiley   +1 more source