"You don't treat your skinny patients like this": a qualitative study of fertility care experiences among women with larger bodies and infertility. [PDF]
Front Reprod HealthElliott V +5 more
europepmc +1 more source
Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
"I feel like there's going to have to be catastrophe before I am seen:..and that is going to be devastating": Visibility, recognition, and medical silencing in eating disorders and disordered eating. [PDF]
PLOS Ment HealthHealey H, Caxaj CS, Nouvet E.
europepmc +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Emerging evidence suggests that low‐frequency neural oscillations are dynamically regulated by consciousness levels, with the recovery of low cortical activity potentially serving as a neurophysiological substrate for conscious emergence. Targeted enhancement of these low‐frequency rhythms in patients with disorders of consciousness
Chuan Xu +10 more
wiley +1 more source
Positive, Neutral, or Just Normal? A Focus Group Study on Adolescents' Knowledge, Familiarity and Perceived Effectiveness of Body Positivity and Body Neutrality on Social Media. [PDF]
Behav Sci (Basel)Ouvrein G, Schreurs L.
europepmc +1 more source
Annals of Clinical and Translational Neurology, EarlyView.Epigenetic reprogramming in hematopoietic stem and progenitor cells (HSPCs) and downstream myeloid cells, mediated by H3.3 downregulation and endogenous retroelement (ERE) overexpression, contributes to the progression of multiple sclerosis (MS). ABSTRACT Background Skewed myelopoiesis in the bone marrow has been identified as a key driver of multiple ...
Li‐Mei Xiao +6 more
wiley +1 more source
Augmented sets of output differences and new distinguishers for SPN ciphers. [PDF]
Sci RepGirme R, Rohit R, Sarkar S.
europepmc +1 more source
SPG4 and Dementia: Expanding the Clinical Spectrum
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza +19 more
wiley +1 more source
An automated model for differential meet in the middle attacks on AndRX ciphers. [PDF]
Sci RepChakraborty D +3 more
europepmc +1 more source
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source