Results 51 to 60 of about 6,119 (148)

Precision Medicine in Neurodegeneration with Brain Iron Accumulation (NBIA) Disorders: An Update on Emerging Treatments

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Neurodegeneration with Brain Iron Accumulation (NBIA) is a heterogeneous group of heritable, mostly recessive, progressive neurodegenerative diseases characterized by iron deposition in the basal ganglia and brainstem. There are no solid global epidemiological data on prevalence and incidence of NBIA subtypes, but registry data and ...
Susanne A. Schneider, Divyani Garg, Vassilena Iankova, Thomas Klopstock   +3 more
wiley   +1 more source

Acid sphingomyelinase deficiency protects from cisplatin-induced gastrointestinal damage [PDF]

Oncogene, 2008
Cisplatin is one of the most effectively used chemotherapeutic agents for cancer treatment. However, in humans, important cytotoxic side effects are observed including dose-limiting renal damage and profound gastrointestinal symptomatology. The toxic responses to cisplatin in mice are similar to those in human patients.
Rébillard, Amélie, Rioux-Leclercq, Nathalie, Muller, Claude, Bellaud, Pascale, Jouan, Florence, Meurette, Olivier, Jouan, Elodie, Vernhet, Laurent, Le Quément, Catherine, Carpinteiro, Alexander, Schenck, Marcus, Lagadic-Gossmann, Dominique, Gulbins, Erich, Dimanche-Boitrel, Marie-Thérèse   +13 more
openaire   +2 more sources

Unexplained splenomegaly as a diagnostic marker for a rare but severe disease with an innovative and highly effective new treatment option: A case report

Molecular Genetics and Metabolism Reports
Acid Sphingomyelinase Deficiency (ASMD) is a lysosomal storage disorder that can lead to severe complications if not promptly treated. This case aims to highlight the critical importance of early awareness of ASMD and to introduce, for the first time in ...
Amber Van Baelen, Stijn Verhulst, François Eyskens   +2 more
doaj   +1 more source

Neonatal cholestasis is an early liver manifestation of children with acid sphingomyelinase deficiency

BMC Gastroenterology, 2022
Background Patients with acid sphingomyelinase deficiency (ASMD) may be referred to a hepatologist for liver manifestations. This study summarized the liver manifestations of patients with ASMD in the early disease course.
Neng-Li Wang, Jing Lin, Lian Chen, Yi Lu, Xin-Bao Xie, Kuerbanjiang Abuduxikuer, Jian-She Wang   +6 more
doaj   +1 more source

Emollient Formulations and Skin Barrier Practices in the Context of Eczema and Food Allergy Prevention

Allergy, EarlyView.
ABSTRACT The skin is far from a passive shield; it functions as a dynamic “living barrier” whose structural and immunological integrity is paramount in preventing atopic dermatitis (AD) and the subsequent progression of the atopic march toward food allergy (FA).
Klaudia Ryczaj, Donald Y. M. Leung, Carina Venter, Barbara Sozańska, Helen A. Brough   +4 more
wiley   +1 more source

Advances in Radiotherapy for Neoadjuvant Therapy of Stage III Non‐Small Cell Lung Cancer

Cancer Science, EarlyView.
This review summarizes three neoadjuvant radiotherapy techniques for stage III NSCLC, highlighting SFRT's low‐toxicity dual immune‐tumor control benefits and radioimmunotherapy's superior pathological response to guide precise multimodal treatment. ABSTRACT This review aims to systematically summarize the mechanisms of action, clinical evolution, and ...
Qinrong Mao, Yuanchun Yu, Yan Fang, Shaofeng Zhu, Chengjin Tang, Jing Cai   +5 more
wiley   +1 more source

A lipid‐sensitive food choice behavior influences aging outcomes from a longevity‐promoting diet

The FEBS Journal, EarlyView.
C. elegans are exposed to a variety of bacteria in their natural environment and must be able to distinguish between beneficial and detrimental food sources. We show that C. elegans exposed to the bacterium from their natural habitat, Methylobacterium, disrupts lipid homeostasis, causing worms to avoid this bacterial species and choose the laboratory ...
Nicole L. Stuhr, Carmen M. Ramos, Chris D. Turner, Alexander A. Soukas, Sean P. Curran   +4 more
wiley   +1 more source

Understanding extracellular vesicle biology, isolation, and characterization: The theory of EV‐erything

Periodontology 2000, EarlyView.
Abstract Background Extracellular vesicles (EVs), especially exosomes, are nanoparticles increasingly recognized as key regulators of intercellular communication in both physiological and pathological aspects. Despite rapid progress, inconsistencies in nomenclature, isolation, and characterization continue to restrict translational advancement.
Paras Ahmad, Nima Farshidfar, Nathan E. Estrin, Yulan Wang, Yufeng Zhang, Anton Sculean, Richard J. Miron   +6 more
wiley   +1 more source

Acid sphingomyelinase deficiency protects mitochondria and improves function recovery after brain injury

Journal of Lipid Research, 2019
Traumatic brain injury (TBI) is one of the leading causes of disability worldwide and a prominent risk factor for neurodegenerative diseases. The expansion of nervous tissue damage after the initial trauma involves a multifactorial cascade of events ...
Sergei A. Novgorodov, Joshua R. Voltin, Wenxue Wang, Stephen Tomlinson, Christopher L. Riley, Tatyana I. Gudz   +5 more
doaj   +1 more source

Periodontitis and metabolic dysfunction‐associated steatotic liver disease

Periodontology 2000, EarlyView.
Abstract Objective Periodontitis is a chronic inflammatory disease with systemic effects that extend beyond the oral cavity and contribute to systemic immune and metabolic dysregulation. Chronic liver diseases, particularly metabolic dysfunction‐associated steatotic liver disease (MASLD) and its progressive phenotypes, have emerged as major global ...
Rafael Scaf de Molon, Erica Dorigatti de Avila, Davi da Silva Barbirato, Mariana Fampa Fogacci, Jamil Awad Shibli, Anton Sculean, Alpdogan Kantarci   +6 more
wiley   +1 more source