Results 51 to 60 of about 6,449 (175)

Microwave-assisted synthesis and swelling behavior of poly lactic acid (PLA) grafted Cordia dichotoma gum-based hydrogels

Chemical Physics Impact
GBHs, or gum-based hydrogels, or superabsorbents, are derived from natural gums. In their unmodified form, these natural polysaccharides may be limited in their application due to physical matrix erosion caused by intensive swelling. Therefore, tailoring
Jyoti Sinha, Abubakar Hamisu Mijinyawa, Faisal Islam Chowdhury, Muhd Zu Azhan Yahya, Pramod Kumar Singh, Geeta Durga   +5 more
doaj   +1 more source

Bleeding Disorders in Children With Genetic Diseases: A Narrative Review

Acta Paediatrica, EarlyView.
ABSTRACT Aim The lack of data on bleeding risk assessment in children with genetic diseases is concerning given their increased care needs and risk of haemorrhagic complications compared to the general population. Identification of haemostatic disorders is crucial for implementing preventive measures and mitigating bleeding risk.
Raphaelle Cagol, Mariam Sbeity Barakat, Marjolaine Willems, Tasnime Akbaraly, Biron‐Andreani Christine, Isabelle Diaz, Alexandre Theron   +6 more
wiley   +1 more source

Optical genome mapping detects cryptic high‐risk and targetable abnormalities in adult AML

British Journal of Haematology, EarlyView.
Summary Acute myeloid leukaemia (AML) risk stratification relies on cytogenetic and molecular abnormalities defined by European LeukemiaNet (ELN) 2022. Conventional cytogenetic techniques, including chromosomal banding analysis (CBA) and fluorescence in situ hybridization, have limited resolution and may miss cryptic events. Optical genome mapping (OGM)
Audrey Bidet, Elodie Laharanne, Manon Dos Santos, Anne‐Charlotte De Grande, Thibaut Leguay, Arnaud Pigneux, Eric Frison, Sandrine Achard, Stéphanie Dupont‐Moufakkir, Emilie Klein, Pierre‐Yves Dumas   +10 more
wiley   +1 more source

Mapping the diagnostic odyssey of congenital disorders of glycosylation (CDG): insights from the community

Orphanet Journal of Rare Diseases
Background Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases with heterogeneous presentations, leading to substantial diagnostic challenges, which are poorly understood.
Pedro Granjo, Carlota Pascoal, Diana Gallego, Rita Francisco, Jaak Jaeken, Tristen Moors, Andrew C. Edmondson, Kristin A. Kantautas, Mercedes Serrano, Paula A. Videira, Vanessa dos Reis Ferreira   +10 more
doaj   +1 more source

Novel Splicing Variant in the PMM2 Gene in a Patient With PMM2-CDG Syndrome Presenting With Pericardial Effusion: A Case Report

Frontiers in Genetics, 2020
Congenital disorders of glycosylation (CDG) are a rapidly growing family of genetic diseases with the phosphomannomutase 2 (PMM2)-CDG being the most common form of CDG.
Katerina Slaba, Hana Noskova, Petra Vesela, Jana Tuckova, Hana Jicinska, Tomas Honzik, Hana Hansikova, Petra Kleiblova, Petr Stourac, Petr Jabandziev, Petr Jabandziev, Ondrej Slaby, Ondrej Slaby, Dagmar Prochazkova, Dagmar Prochazkova   +14 more
doaj   +1 more source

Component of oligomeric Golgi complex 1 deficiency leads to hypoglycemia: a case report and literature review

BMC Pediatrics, 2021
Background Congenital disorders of glycosylation (CDG) are a group of metabolic diseases with clinical and genetic heterogeneity, and CDG-IIg is one of the rare reported types of CDG.
Yizhou Huang, Han Dai, Gangyi Yang, Lili Zhang, Shiyao Xue, Min Zhu   +5 more
doaj   +1 more source

Microbial influence on the formation and subsequent changes of vertebrate tracks: field experiments on present‐day coastal sediments

Sedimentology, EarlyView.
ABSTRACT The presence of microbial mats is often invoked to explain the good preservation of vertebrate tracks, because they can cover and biostabilize such structures. However, microbial influence on the sediment properties when the track is made and on the track characteristics has not been so thoroughly analysed.
Isabel Emma Quijada, Lucía Maisano, Jerónimo Pan, María Florencia Yorlano, Diana G. Cuadrado   +4 more
wiley   +1 more source

A Global Review of Microplastic Contamination in Groundwater: Empirical Evidence and Latin American Perspectives

Water and Environment Journal, EarlyView.
ABSTRACT The presence of microplastics (MPs) in groundwater has emerged as a significant concern due to their environmental impact and the threat they pose to vital water resources, groundwater being one of the most important freshwater sources in the world.
Lara Luiza de Oliveira Pompermayer, Ana Dalva de Oliveira de Santos, Danieli Lima da Cunha, Joel de Matos Junior, Khauê Silva Vieira, Diego Gomes Carvalho, Christine Claire Gaylarde, José Antonio Baptista Neto   +7 more
wiley   +1 more source

Caenorhabditis elegans as an in vivo model system for human inherited primary arrhythmia syndromes

The Journal of Physiology, EarlyView.
Abstract figure legend Most genes involved in inherited primary arrhythmia syndromes (IPAS) are conserved in Caenorhabditis elegans, where genetic manipulation enables functional characterization of variants, identification of regulatory proteins, and in vivo drug testing.
Antoine Delinière, Thomas Boulin, Maëlle Jospin, Alexandre Janin, Gilles Millat, Philippe Chevalier, Olga Andrini   +6 more
wiley   +1 more source

A mutation in mannose‐phosphate‐dolichol utilization defect 1 reveals clinical symptoms of congenital disorders of glycosylation type I and dystroglycanopathy

JIMD Reports, 2019
Congenital disorders of glycosylation type I (CDG‐I) are inborn errors of metabolism, generally characterized by multisystem clinical manifestations, including developmental delay, hepatopathy, hypotonia, and skin, skeletal, and neurological ...
Walinka vanTol, Angel Ashikov, Eckhard Korsch, Nurulamin Abu Bakar, Michèl A. Willemsen, Christian Thiel, Dirk J. Lefeber   +6 more
doaj   +1 more source