Results 51 to 60 of about 2,160,111 (122)

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

open access: yesPregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld   +5 more
wiley   +1 more source

Long-Term Cholic Acid Therapy in Zellweger Spectrum Disorders

open access: yesCase Reports in Gastroenterology, 2018
Zellweger spectrum disorders (ZSDs), a subgroup of peroxisomal biogenesis disorders, have a generalized defect in peroxisome function. Liver disease in ZSDs has been linked to accumulation of C27-bile acid intermediates due to the lack of peroxisomal β ...
James E. Heubi   +2 more
doaj   +1 more source

Pyridoxal Reprograms Peroxisomal Hydrogen Peroxide Metabolism to Induce Lethal Oxidative Stress in Ovarian Cancer

open access: yesiMetaMed, Volume 2, Issue 1, March 2026.
Pyridoxal (PL) exhibits the strongest anti‐tumor activity within the vitamin B6 family, demonstrating significant ovarian cancer cell‐killing efficacy in vivo, in vitro, and in patient‐derived organoid (PDO) models. The anti‐tumor mechanism involves PL inducing a shift in peroxisome dynamics towards fission, promoting peroxisome proliferation, and ...
Ruonan Li   +12 more
wiley   +1 more source

Epidemiology of progressive intellectual and neurological deterioration in UK children

open access: yesDevelopmental Medicine &Child Neurology, Volume 68, Issue 3, Page 418-428, March 2026.
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   +3 more
wiley   +1 more source

Oral pretreatment with Escherichia coli Nissle 1917 enhances the host's defense against influenza A virus infection

open access: yesmLife, Volume 4, Issue 6, Page 664-680, December 2025.
Abstract Influenza A viruses (IAVs) pose a significant threat to global health, causing annual epidemics and occasional pandemics with substantial morbidity and mortality. Despite the availability of vaccines and antiviral therapies, the development of novel preventive and therapeutic strategies remains a critical research focus.
Di Wang   +7 more
wiley   +1 more source

Predictive value of bipolar-spectrum clinical features in a large cohort of fluoxetine treated patients with major depressive disorder [PDF]

open access: yes, 2011
Objective: The presence of unrecognized bipolar disorder or “bipolar spectrum” features has been suggested to contribute to poor treatment response in major depressive disorder.
CASAMASSIMA, FRANCESCO
core  

Screening Tool Improves Recognition of Movement Disorders by Internists and Paediatricians in Patients With Inherited Metabolic Diseases

open access: yesJournal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Movement disorders are common in inherited metabolic diseases (IMDs) and significantly impact quality of life. Unfortunately, they are often underrecognised by metabolic physicians. This study investigated whether a new screening tool improves recognition of movement disorders in IMD patients by non‐neurologists.
Ellen M. Hulshof   +22 more
wiley   +1 more source

Emotional experience in parents of children with Zellweger spectrum disorders: A qualitative study

open access: yesMolecular Genetics and Metabolism Reports, 2019
Zellweger spectrum disorders (ZSDs) are rare, debilitating genetic diseases of peroxisome biogenesis that require constant management and lifelong care.
Mousumi Bose   +8 more
doaj   +1 more source

Foetal disruptive brain injuries: Diagnosing the underlying pathogenetic mechanisms with cranial ultrasonography

open access: yesDevelopmental Medicine &Child Neurology, Volume 67, Issue 11, Page 1383-1408, November 2025.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16431 Abstract Antenatal destructive events affecting the central nervous system of the foetus lead to disruptive brain lesions that are often associated with impaired neurodevelopment.
Ana Alarcón   +33 more
wiley   +1 more source

Assessing the effects of disturbance severity and spatial patterning on forest canopy structure and complexity outcomes

open access: yesEcosphere, Volume 16, Issue 10, October 2025.
Abstract Disturbances modify the three‐dimensional (3D) physical structure of forest canopies, which cascades to influence numerous ecosystem functions. The capacity to model the structural outcomes of disturbance may aid in predicting ecosystem functional responses, especially for novel disturbance types and regimes.
Brandon C. Alveshere   +4 more
wiley   +1 more source

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