Results 31 to 40 of about 4,438 (134)

A Postbiotic‐Inducing Ganoderma applanatum Polysaccharide Repairs the Intestinal Barrier via a Phocaeicola vulgatus ‐ Tridecylic Acid Axis

Advanced Science, EarlyView.
This study identifies GAP2, a bioactive polysaccharide fraction derived from Ganoderma applanatum, as a postbiotic inducer that repairs intestinal barrier damage in a gut microbiota‐dependent manner. GAP2 enriches Phocaeicola vulgatus, which degrades GAP2 and promotes tridecylic acid production, triggering Rho/CDC42 signaling and tight‐junction ...
Chuan Zhang, Miaoyu Li, Tiantian Li, Xiaojie Zang, Haiyang Shi, Yaru Liu, Chengcheng Zhang, Jianxin Zhao, Qixiao Zhai, Wei Chen, Fengwei Tian   +10 more
wiley   +1 more source

Decoding RNA regulation: Challenges and opportunities for RNA‐based therapies in Europe

British Journal of Clinical Pharmacology, EarlyView.
Abstract RNA‐based medicinal products represent a promising frontier in personalised medicine, offering sequence‐specific disease targeting at various molecular levels, yet their clinical translation in the European Union (EU) may be hindered by regulatory uncertainty around definitions and evidence requirements; this study therefore aims to identify ...
Olivia C. Lewis, Christine Leopold, Joyce M. Hoek, Raymond M. Schiffelers, Marie L. De Bruin   +4 more
wiley   +1 more source

A hidden cause of oxalate nephropathy: a case report

Journal of Medical Case Reports, 2021
Background Oxalate nephropathy is a rare disorder that can result in acute kidney injury (AKI) and progresses to end-stage kidney disease (ESKD). The causes can be either primary or secondary.
Tala Mahmoud, Elias C. Ghandour, Bernard G. Jaar   +2 more
doaj   +1 more source

Histopathologic Characterization of Cutaneous Oxalosis Mimicking Calciphylaxis: Diagnostic Pitfalls and Polarized Light Evaluation

Journal of Cutaneous Pathology, EarlyView.
ABSTRACT Cutaneous oxalosis is an uncommon manifestation of primary hyperoxalosis, which can often resemble other cutaneous manifestations of end stage renal disease (ESRD), particularly calciphylaxis. We report the case of a 46 year old female with primary hyperoxaluria type one (PH1) believed to be well‐controlled on lumasiran, a small interfering ...
Shrina Patel, Brad Graham, Kaci Reaves, Mya Phelps   +3 more
wiley   +1 more source

Recurrence of Crystalline Nephropathy after Kidney Transplantation in APRT Deficiency and Primary Hyperoxaluria

Canadian Journal of Kidney Health and Disease, 2015
Purpose of review: To provide transplant physicians with a summary of the pathogenesis and diagnosis of adenine phosphoribosyl transferase (APRT) deficiency and primary hyperoxaluria and, focussed on kidney transplantation, and to discuss interventions ...
Guillaume Bollée, Pierre Cochat, Michel Daudon   +2 more
doaj   +1 more source

The Long Pentraxin PTX3 Is an Endogenous Inhibitor of Hyperoxaluria-Related Nephrocalcinosis and Chronic Kidney Disease

Frontiers in Immunology, 2018
The long pentraxin 3 (PTX3) exerts a variety of regulatory functions in acute and chronic tissue inflammation. In particular, PTX3 acts as an opsonin for a variety of pathogens and endogenous particles.
Julian A. Marschner, Shrikant R. Mulay, Stefanie Steiger, Lidia Anguiano, Zhibo Zhao, Peter Boor, Khosrow Rahimi, Antonio Inforzato, Antonio Inforzato, Cecilia Garlanda, Cecilia Garlanda, Alberto Mantovani, Alberto Mantovani, Hans-Joachim Anders   +13 more
doaj   +1 more source

Scanning electron microscopy—a powerful imaging technique for the clinician

Comptes Rendus. Chimie, 2021
Since its first use several decades ago, scanning electron microscopy has been used in numerous investigations dedicated to biological systems. This contribution focuses on observations on pathological calcifications in order to review several major ...
Bazin, Dominique, Bouderlique, Elise, Daudon, Michel, Frochot, Vincent, Haymann, Jean-Philippe, Letavernier, Emmanuel, Tielens, Frederik, Weil, Raphaël   +7 more
doaj   +1 more source

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2433-2442, November 2026.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

Palmar papules as a manifestation of cutaneous oxalosis in primary hyperoxaluria: A case report and review of the literature

Clinical Case Reports
Key Clinical Message Cutaneous oxalosis is a rare manifestation of systemic oxalosis, typically associated with primary or secondary hyperoxaluria. We present a rare case of a 23‐year‐old female diagnosed with primary hyperoxaluria and end‐stage renal ...
Hadi Alabdullah, Jameel Soqia, Thaer Douri   +2 more
doaj   +1 more source

Essential Oral Single Nutritional Therapy Products for Inherited Metabolic Diseases: Evidence and Consensus Assessment Using a Modified Delphi Method

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Nutritional therapy is critical in managing inherited metabolic diseases (IMDs), and includes specialized diets and single nutritional therapy products (sNTPs) such as vitamins, cofactors, and amino acids. Many sNTPs function as medicines, but are regulated as food (e.g., food supplements), which can limit access, reimbursement, and consistent
Nina N. Stolwijk, Bart M. F. Penninx, Annet M. Bosch, Mirjam Langeveld, Gajja S. Salomons, Carla E. M. Hollak, Essential Nutritional Therapy Products for IMDs Consensus Group, Dorothea Möslinger, Saskia Wortmann, David Cassiman, Pavel Ješina, Jiri Zeman, Allan M. Lund, François Feillet, Nazi Tabatadze, Sarah C. Grünert, Anke Schumann, Ute Spiekerkoetter, Ulrike Mütze, Thomas Opladen, Anastasia Skouma, Ina Knerr, Serena Gasperini, Vincenza Gragnaniello, Mariarosa (Marina) Anna Beatrice Melone, Francesca Nardecchia, Alessandro La Rosa, Birutė Tumienė, Margreet Wagenmakers, Terry Derks, Camilla Tøndel, Beata Kieć‐Wilk, Urh Groselj, Amaya Bélanger‐Quintana, Javier De las Heras, Mireia del Toro Riera, Eva Venegas Moreno, Matthias Gautschi, Johannes Häberle, Elaine Murphy   +39 more
wiley   +1 more source