Results 171 to 180 of about 78,803 (280)

Expert‐Designed Fact Sheets and AI‐Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic Diseases

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT The importance of early diagnosis of inherited metabolic diseases (IMDs) is well known, as it allows early intervention to prevent or reduce complications and improve prognosis, since many of these disorders are treatable. However, diagnosis can still be delayed, and many patients remain undiagnosed. Reducing diagnosis delays is a primary goal
Aline Cano, Xiaoyi Chen, Azza Khemiri, Anais Brassier, Arnoux Jean‐Baptiste, Roseline Froissart, Juliette Bouchereau, Célia Hoebeke, Karin Mazodier, Bénédicte Héron, Philippe Labrune, Catherine Caillaud, David Cheillan, Yann Nadjar, Samia Pichard, Apolline Imbard, Magali Pettazzoni, Claire Douillard, Belmatoug Nadia, Anna‐Line Calatayud, Mounira Zerguini, Nicolas Garcelon, Jean‐François Benoist, Cécile Acquaviva, Pascale De Lonlay, the other members of the expert group consortium, Marie‐Thérèse Abi‐Warde, Cécile Acquaviva, Jean‐Baptiste Arnoux, Stéphanie Badiou, Magalie Barth, Nadia Belmatoug, Jean‐François Benoist, Juliette Bouchereau, Anais Brassier, Arnaud Bruneel, Catherine Caillaud, Aline Cano, Brigitte Chabrol, David Cheillan, Emmanuelle Corbe‐Guillard, Christelle Corne, Lena Damaj, Myriam Dao, Pascale De Lonlay, Anne‐Frédérique Dessein, Dries Dobbelaere, Claire Douillard, Thierry Dupré, François Feillet, Roseline Froissart, Margaux Gaschignard, Magali Gorce, Laurent Gouya, Anne‐Sophie Guemann, Bénédicte Héron, Célia Hoebeke, Apolline Imbard, Elsa Kaphan, François Labarthe, Philippe Labrune, Pascal Laforet, Thierry Levade, Elise Lebigot, Edouard Le Guillou, Olivier Lidove, Julien Maquet, Wladimir Mauhin, Clothilde Marbach, Karin Mazodier, Karine Mention, Fanny Mochel, Caroline Moreau, Yann Nadjar, Esther Noel, Mickael Obadia, Cécile Pagan, Magali Pettazzoni, Samia Pichard, Clement Pontoizeau, Aurélia Poujois, Isabelle Redonnet‐Vernhet, Frédérique Sabourdy, Manuel Schiff, Christine Serratrice, Aude Servais, Caroline Sevin, Anne Spraul, Bénédicte Sudrié, Marine Tardieu, Sandrine Vuillaumier, Camille Wicker, Arnaud Wiedemann‐Fode, Vincent Barlogis, Nathalie Boddaert, Kanetee Busiah, Annabelle Chaussenot, Dominique Debray, Céline Falaise, Muriel Girard, Dalila Habes, Annie Harroche, Florence Lacaille, Mehdi Oualha, Caroline Ovaert, Rachel Reynaud, Caroline Rousset‐Rouvière, Cécile Rouzier, Karim Wahbi   +108 more
wiley   +1 more source

Clinical Outcomes and Management in Late Diagnosed Siblings Affected With Attenuated GSD Ib

JIMD Reports, Volume 67, Issue 2, March 2026.
ABSTRACT Glycogen storage disease 1b (GSD1b) typically presents in early infancy with poor fasting tolerance, hepatomegaly, and neutropenia. We report two siblings who were diagnosed with GSD1b in adulthood. Both had a normal fasting tolerance throughout childhood and, as adults, were able to fast for at least 16 h without developing hypoglycaemia. The
Gregory Lynch, Alison Woodall, Charlotte Dawson, Philip Newsome, Maria Veiga‐da‐Cunha, Karolina M. Stepien   +5 more
wiley   +1 more source

Multimodal Management of Extreme Hypertriglyceridemia in a Child with Recurrent Pancreatitis: Clinical Challenges and Solutions. [PDF]

J Clin Med
Spoială EL, Oltean C, Vasiliu I, Paduraru G, Danilă DC, Ghiga G, Țugui M, Butnariu LI, Cojocaru E, Trandafir LM.   +9 more
europepmc   +1 more source

Pre‐ to Post‐Pandemic Increases in Excessive Alcohol Use, Binge Drinking, and Associated Liver Fibrosis Among U.S. Adults

Liver International Communications, Volume 7, Issue 1, March 2026.
ABSTRACT Binge drinking and excessive alcohol consumption are major public health concerns, and the COVID‐19 pandemic may have exacerbated these issues. We aimed to compare the prevalence of binge and excessive alcohol use, as well as advanced liver fibrosis, among U.S. adults before and after the pandemic onset.
David Sooik Kim, Ritik Goyal, Walid S. Ayoub, Alexander Kuo, Hirsh Trivedi, Aarshi Vipani, Yun Wang, Ju Dong Yang, Suthat Liangpunsakul, Hyun‐Seok Kim   +9 more
wiley   +1 more source

Severe Hypertriglyceridemia-Induced Pancreatitis Presenting With Diabetic Ketoacidosis in a Pediatric Patient. [PDF]

Cureus
Padilla AL, Davila Parrilla L, Agrait Gonzalez MF, Rosado A, Salcedo G.   +4 more
europepmc   +1 more source

Efficacy and Safety of DNV3 (a Lymphocyte‐activation Gene 3–blocking Antibody) Combined With Toripalimab and Chemotherapy in Advanced Melanoma: An Open‐label, Single‐arm Clinical Trial

MedComm, Volume 7, Issue 3, March 2026.
This investigator‐initiated trial demonstrates that LAG‐3/PD‐1 dual blockade (DNV3 + toripalimab) combined with chemotherapy achieves a 44.4% overall response rate (ORR) in advanced melanoma, showing particular efficacy in anti‐PD‐(L)1‐resistant patients (42.9% ORR, 7.36‐month median PFS), treatment‐naïve mucosal melanoma (50.0% ORR), and those with ...
Jing Lin, Lizhu Chen, Ling Chen, Dingyi Wang, Yuping Lu, Huishan Zhang, Ping Chen, Wei Yan, Zuoxiang Xiao, Yu Chen   +9 more
wiley   +1 more source

When the Tube Tells the Tale: A Visual Cue Reveals a Rare Cause of Acute Pancreatitis. [PDF]

Cureus
Bugheni C, Reddy V.
europepmc   +1 more source

The DYRK Family: A Key Regulator of Metabolic Homeostasis and Its Therapeutic Potential in Kidney Diseases

MedComm – Future Medicine, Volume 5, Issue 1, March 2026.
The DYRK family, a pivotal metabolic homeostasis regulator, mediates crosstalk between metabolic disorders and CKD via subtype‐specific mechanisms: DYRK1A drives diabetic (CKD risk), DYRK1B exacerbates metabolic renal injury, DYRK2 contributes to renal osteodystrophy, while DYRK3/4 remain unelucidated.
Yixuan Zhu, Pengfei Qiao, Yukun Gan, Xiushuo Fu, Xiayue Huang, Sirui Sun, Yafei Gou, Wenjie Xia, Feng Ma, Limin Liu   +9 more
wiley   +1 more source

Hypertriglyceridemia-Induced Acute Pancreatitis Associated with Ruxolitinib for Hemophagocytic Lymphohistiocytosis: A Case Report. [PDF]

Case Rep Oncol Med
Medina S, Ynalvez LA, Ali HR, Cabanillas ME, Hamzeh I, Kumar S, Palaskas N, Deswal A, Khalaf S.   +8 more
europepmc   +1 more source

The Role of Food Structure on Fatty Acid Bioaccessibility: A Decade of TIM‐1 Simulated Digestion Studies in Review

Molecular Nutrition &Food Research, Volume 70, Issue 6, 29 March 2026.
Lipid and food structure determine when and how macro‐ and micronutrients become bioaccessible. This review compares lipid bioaccessibility from engineered emulsions, breast milk, infant formula, and meat and meat mimics, which couples the effect of cooking temperature on lipid bioaccessibility in meat and eggs. ABSTRACT Food structure has emerged as a
Michael A. Rogers, Amanda J. Wright
wiley   +1 more source