Results 51 to 60 of about 24,818 (181)

Biochemical Testing Promotes Interpretation of Variants of Uncertain Significance in Prenatal Genetic Disease Testing in Four Organic Acidurias

Clinical Genetics, EarlyView.
This review demonstrates how amniotic fluid biochemical testing provides critical phenotypic evidence (ACMG PP4) for reclassifying variants of uncertain significance (VUS) in prenatal organic acidurias. Integrating metabolite analysis with genetic testing enhances diagnostic accuracy and enables informed clinical decisions for affected families ...
Kaili Yin, Qingwei Qi
wiley   +1 more source

Hcfc1 and Ogt Mediate Zebrafish CNS Regeneration Through Hippo/Yap Signalling

Cell Proliferation, EarlyView.
This work identifies Hcfc1 and Ogt as key regulators of zebrafish CNS regeneration through modulation of Hippo/Yap signalling. Loss of Hcfc1 or Ogt activity inhibition impairs regeneration, which is restored by Yap overexpression, revealing a new regulatory axis that enhances CNS regenerative capacity.
Priyanka P. Srivastava, Sidharth Bhasin, Poonam Sharma, Omkar Mahadeo Desai, Kshitiz Yadav, Ayushma, Rohan Chakraborty, Suhel Parvez, Rajesh Ramachandran, Shilpi Minocha   +9 more
wiley   +1 more source

Dietary deficiency of cobalamin presented solely as schizoaffective disorder in a lacto-vegetarian adolescent

Indian Journal of Psychological Medicine, 2015
Cobalamin is an important nutrient. It is not synthesized in human body and supplied only in nonvegetarian diet. Its deficiency reported with range of psychiatric disorders. Only four pediatric cases have been reported as psychiatric disorders.
Somashekarappa Dhananjaya, Narayana Manjunatha, Rajashekaaiah Manjunatha, Seetharamarao Udaya Kumar   +3 more
doaj   +1 more source

Epidemiology of progressive intellectual and neurological deterioration in UK children

Developmental Medicine &Child Neurology, EarlyView.
This study of PIND in UK children was carried out via the British Paediatric Surveillance Unit from 1997 to 2024. It identified six cases of vCJD. 2367 children had other diagnoses explain their deterioration. There were 259 other diseases in the diagnosed group.
Christopher M. Verity, Polly J. Maunder, Anne Marie Winstone, Suvankar Pal   +3 more
wiley   +1 more source

Relationship between cobalamin deficiency and delirium in elderly patients undergoing cardiac surgery

Neuropsychiatric Disease and Treatment, 2015
Utkan Sevuk,1 Erkan Baysal,2 Nurettin Ay,3 Yakup Altas,2 Rojhat Altindag,2 Baris Yaylak,2 Vahhac Alp,3 Ertan Demirtas4 1Department of Cardiovascular Surgery, Diyarbakir Gazi Yasargil Education and Research Hospital, Diyarbakir, 2Department of Cardiology,
Sevuk U, Baysal E, Ay N, Altas Y, Altindag R, Yaylak B, Alp V, Demirtas E   +7 more
doaj  

Bacterial porphyrins in healthy skin: Microbiota components impact melanogenesis and age‐related processes leading to Porphyr'ageing

International Journal of Cosmetic Science, EarlyView.
Porphyrins, previously linked only to acne inflammation, are now implicated in skin ageing. Their presence correlates with increased melanin, inflammation, and oxidative stress, contributing to premature ageing signs. This study introduces the concept of “Porphyr'ageing,” highlighting the detrimental effects of bacterial metabolites on skin health and ...
Marie Meunier, Morgane De Tollenaere, Cyrille Jarrin, Emilie Chapuis, Marine Bracq, Laura Lapierre, Catherine Zanchetta, Jean Tiguemounine, Amandine Scandolera, Romain Reynaud   +9 more
wiley   +1 more source

Controversies in NEN: An ENETS position statement on nutritional support in neuroendocrine neoplasms

Journal of Neuroendocrinology, EarlyView.
Abstract Neuroendocrine neoplasms (NEN) themselves and also their treatment may cause malnutrition, inducing changes in physiological behaviour and eventually leading to increased rates of morbidity and mortality. Malnutrition is a common, under‐recognised and under‐treated condition in patients with NEN, and there are limited data available on the ...
Simona Grozinsky‐Glasberg, Johannes Hofland, Stephanie Alband, Yasmin Chotai de Lima, Adina Croitoru, Wanda Geilvoet, Peter Igaz, Beata Kos‐Kudła, Guenter J. Krejs, Alessandro Laviano, Francesco Panzuto, Anguraj Sadanandam, Ana Paula Santos, Staffan Welin, Rajaventhan Srirajaskanthan, V. Ambrosini, D. K. Bartsch, E. Baudin, N. Begum, E. Christ, J. Cros, T. Denecke, C. M. Deroose, C. Dromain, M. Falconi, N. Fazio, L. Fernandez‐Cuesta, R. Garcia‐Carbonero, A. Grossman, G. Kaltsas, A. Kasajima, A. Kjaer, G. Klöppel, U. P. Knigge, A. Lamarca, S. W. Langer, T. V. Luong, W. Martin, M. McNamara, D. O'Toole, S. Partelli, M. Pavel, A. Perren, R. Salazar, J. Schrader, H. Sorbye, A. Sowa‐Staszczak, E.‐J. Speel, P. Stalberg, M. Tesselaar, E. Tiensuu Janson, M. Tsoli, M. Volante, T. Walter   +53 more
wiley   +1 more source

Cobalamin riboswitches are broadly sensitive to corrinoid cofactors to enable an efficient gene regulatory strategy [PDF]

, 2022
Kristopher J. Kennedy, Florian J. Widner, Olga M. Sokolovskaya, Lina Victoria Innocent, Rebecca R. Procknow, Kenny C. Mok, Michiko E. Taga   +6 more
openalex   +1 more source

Dietary Phosphorus Requirement for Tambaqui, Colossoma macropomum, in the Grow‐Out Phase

Journal of Animal Physiology and Animal Nutrition, EarlyView.
ABSTRACT Phosphorus is essential for fish growth as it is crucial in skeletal development and metabolic reactions. The dietary requirement for this mineral varies among fish species and growth stages. Therefore, the objective of this study was to determine the available phosphorus (AP) requirement for tambaqui during the grow‐out phase (± 400 to 1000 g)
Ludmila L. C. Menezes, Vânia M. Machado, Cristielle N. Souto, Danilo C. Proença, Guilherme W. Bueno, Igo G. Guimarães   +5 more
wiley   +1 more source

Vitamin B12 (Cobalamin) and Micronutrient Fortification in Food Crops Using Nanoparticle Technology [PDF]

, 2021
Soojin Oh, Gareth W. V. Cave, Chungui Lu
openalex   +1 more source