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| http://dx.doi.org/10.3390/ma13061277 | DOI Listing |
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Molecular basis of mucopolysaccharidosis type II (Hunter syndrome): first review and classification of published IDS gene variants.
Hum Genomics
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Laboratory of Diagnosis and Therapy of Lysosomal Disorders, Department of Women's and Children's Health, University of Padova, Padova, Italy.
Purpose: Mucopolysaccharidosis type II (MPS II) is a rare X-linked lysosomal storage disorder caused by genetic alterations in the iduronate 2-sulfatase (IDS) gene. A wide range of variants has been reported for different countries and ethnic groups. We collected, analyzed and uniformly summarized all published IDS gene variants reported in literature up to June 2023, here providing the first worldwide review and classification.
View Article and Find Full Text PDFBeauty ideals modulate recognition of filtered images.
Body Image
November 2024
National Scientific and Technical Research Council, Godoy Cruz 2290, CABA C1425, Argentina; Centro de Investigaciones en Psicología y Psicopedagogía, Universidad Católica Argentina, Alicia Moreau de Justo 1800, CABA C1107, Argentina.
Social media has affected how we relate to our body image. Digital makeovers have both reinforced existing beauty ideals and created new ones. This project investigated whether young adults' recognition of image filters was associated by the beliefs of beauty ideals and gender.
View Article and Find Full Text PDFA comparison of natalizumab's effects on SDMT between pediatric-onset and adult-onset multiple sclerosis patients.
Front Neurol
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Department of Neurosciences, University of Padua, Padova, Italy.
Article Synopsis
- The study focuses on pediatric-onset multiple sclerosis (POMS) patients, who often face cognitive issues, and examines how natalizumab (NTZ) affects their cognitive function compared to adult-onset multiple sclerosis (AOMS) patients.
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Characterization of Two Novel PNKP Splice-Site Variants in a Proband With Microcephaly, Intellectual Disability, and Multiple Malformations.
Am J Med Genet B Neuropsychiatr Genet
October 2024
Department of Women's and Children's Health, University of Padova, Padova, Italy.
Polynucleotide kinase phosphatase (PNKP), encoded by the PNKP gene, is a DNA processing enzyme involved in double-strand break and single-strand break repair pathways, which are essential for genome stability and for the correct development and maintenance of human nervous system. PNKP biallelic loss-of-function variants have been associated with a broad spectrum of neurological anomalies, ranging from congenital microcephaly with intellectual disability and seizures (MCSZ), to later onset forms of ataxia-oculomotor apraxia (AOA4) or peripheral neuropathy (CMT2B2). We report the atypical clinical manifestations of a patient with severe microcephaly, short stature, developmental delay, conductive hearing loss, and tracheoesophageal malformation, in the absence of seizures.
View Article and Find Full Text PDFPsychoeducation for Pathologic Narcissism and Narcissistic Personality Disorder: A Review and Proposal for a Good Psychiatric Management-based Six-week Group Program.
J Psychiatr Pract
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Department of Psychiatry, Harvard Medical School, Boston, MA.
Pathologic narcissism (PN) and narcissistic personality disorder (NPD) are 2 common and stigmatized clinical constructs that are known to have large consequences for patients' functioning and mental health-related outcomes. To date, no treatment for these conditions has been empirically validated, but there is a relative consensus about the importance of psychoeducation. Here we present a model for a psychoeducational intervention for patients with PN or NPD.
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