Results 81 to 90 of about 23,995 (263)

PERCC1‐associated enteropathy: Diagnostic challenges and enteral autonomy achieved with teduglutide

JPGN Reports, EarlyView.
Abstract Congenital diarrheas and enteropathies (CODE) are rare inherited disorders characterized by early‐onset intractable diarrhea. Though progress has been made in elucidating the genetic basis of CODE, much remains to be discovered. Another challenge is the lack of curative therapies—treatment is primarily supportive including enteral and ...
Angela Tran, Vivien Nguyen, Phuong Huynh
wiley   +1 more source

Uncovering the Genetic Landscape of Spinal Dysraphism: A Retrospective Analysis of 150 Fetal Cases

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Spinal dysraphism (SD) results from incomplete neural tube closure and encompasses a heterogeneous group of congenital anomalies with genetic and environmental etiologies. Although genetic contributions are recognized, causative variants remain insufficiently defined, and the clinical implications of extended genetic testing on ...
I. Bedei, A. Feresin, R. Zemet, D. Berner, D. Polidori, K. Fröbius, A. Skakkebæk, R. Axt‐Fliedner, M. Shoukier, C. Keil   +9 more
wiley   +1 more source

CRISPR/Cas9 Genome Engineering in Non‐Conventional Oleaginous Yeasts: Applications, Challenges, and Prospects

Yeast, EarlyView.
ABSTRACT Given the biotechnological potential of yeast‐derived oils for oleochemical production, genes encoding lipid metabolism enzymes are key targets for metabolic engineering. Genetic engineering tools such as Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR)/Cas9, Transcription Activator‐Like Effector Nucleases (TALENs), Zinc ...
Rodrigo Gonçalves Dias, Fernanda Pinheiro Moreira Freitas, Eduardo Luís Menezes de Almeida, Luciano Gomes Fietto, Agustin Zsögön, Wendel Batista da Silveira   +5 more
wiley   +1 more source

Management of Treatment Resistant EGFR Inhibitor‐Induced Papulopustular Exanthema With Isotretinoin and Dapsone

Australasian Journal of Dermatology, EarlyView.
ABSTRACT Background/Objectives Epidermal growth factor receptor inhibitors (EGFRi) commonly cause papulopustular exanthemas that may compromise the success of cancer therapy. While tetracyclines are first‐line treatment, data on alternative systemic agents for refractory cases remain limited.
Ishana Dixit, Raquel Ruiz Araujo, Pablo Fernandez‐Peñas   +2 more
wiley   +1 more source

Prevalence of G6PD deficiency and diagnostic accuracy of a G6PD point-of-care test among a population at risk of malaria in Myanmar

Malaria Journal, 2023
Background Over the past decade, the incidence of malaria has steadily declined in Myanmar, with Plasmodium vivax becoming predominant. The resilience of P.
Than Htike Aung, Chayanut Suansomjit, Zaw Min Tun, Tin Maung Hlaing, Jaranit Kaewkungwal, Liwang Cui, Jetsumon Sattabongkot, Wanlapa Roobsoong   +7 more
doaj   +1 more source

Characterisation of a cold‐adapted, thermostable glucokinase from psychrophilic Pseudoalteromonas sp. AS‐131 reveals how the enzyme achieves high thermal stability without loss of cold adaptation

The FEBS Journal, EarlyView.
We investigated glucokinase from the psychrophilic Pseudoalteromonas sp. AS‐131 (PsGK), which was isolated from the Antarctic Ocean. Biochemical studies revealed that PsGK is a cold‐adapted enzyme with high thermal stability, in contrast to general cold‐adapted enzymes, which have low thermal stability.
Akane Yato, Yuki Kato, Fuyuko Hayashi, Rio Asaka, Atsuko Ogawa, Tokuro Oda, Sayaka Tsuji, Masashi Unno, Nobuaki Soh, Keiichi Watanabe, Masaki Horitani   +10 more
wiley   +1 more source

Glucose 6 phosphate dehydrogenase deficiency in Malta : a preliminary study [PDF]

, 1968
It has been suggested that glucose-6-phosphate dehydrogenase deficiency (G6PD) affects more than 100 million people of all races throughout the world. The special relevance of this problem to Malta can readily be appreciated when it is remembered that ...
Cauchi, Maurice N.
core  

Evaluation of glucose-6-phosphate dehydrogenase stability in stored blood samples [PDF]

, 2016
Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency is the commonest cause of neonatal jaundice in Malaysia. Recently, OSMMR2000-D G6PD Assay Kit has been introduced to quantitate the level of G6PD activity in newborns delivered in Universiti Kebangsaan ...
Alauddin, Hafiza, Azma, Raja Zahratul, Baya, Siti Noor, Ithnin, Azlin, Jalil, Norunaluwar, Mohamed, Emida, Othman, Ainoon   +6 more
core   +1 more source

European S2k guidelines on management of autoimmune blistering diseases in children and adolescents

Journal of the European Academy of Dermatology and Venereology, EarlyView.
Autoimmune blistering disorders (AIBDs) in children are rare, challenging to diagnose and treat and often require immunosuppressants. Until now, no paediatric care guidelines existed. The EADV Task Force for AIBDs has developed the consensus‐based recommendations, enabling physicians to adopt a uniform, tailored treatment strategy to improve outcomes ...
A. Nanda, B. Tedbirt, C. Bodemer, M. C. Bolling, M. El Hachem, M. Nikolić, E. Benton, M. Caproni, D. De, D. Didona, K. Drenovska, M. Goebeler, M. Hertl, B. Horváth, M. Kasperkiewicz, D. Kiritsi, M. Larralde, A. V. Marzano, J. Meijer, D. F. Murrell, J. Powell, E. Sprecher, N. S. Chandran, M. M. Tomayko, S. Uzun, N. van Beek, H. Ott, A. Patsatsi, A. Torrelo, A. Welfringer‐Morin, E. Schmidt, P. Joly   +31 more
wiley   +1 more source

Fundamentals of big data and artificial intelligence in transfusion medicine

Vox Sanguinis, EarlyView.
Abstract Within the digital transformation of medicine, transfusion medicine has quietly become a big‐data discipline. The long‐standing tradition of blood product standardization (e.g., ISBT‐128) and large donor cohorts being followed over years—some of which are sampled in national biobank projects, build a favourable setting.
Amin T. Turki, Christian Martin Brieske, Umut A. Gurkan, Katja M. Scheidler, O. Berk Usta, Esa Turkulainen, Kamyar Arzideh, Christian Temme, René Hosch, Peter A. Horn, Mikko Arvas   +10 more
wiley   +1 more source