Publications by authors named "V Del Lupo"

Article Synopsis
  • - Pathogenic variants in the SETD5 gene are linked to a neurodevelopmental disorder presenting intellectual disability, autism, and facial dysmorphisms, with some symptoms not appearing in every individual (incomplete penetrance).
  • - A study of 28 patients revealed various neurological symptoms, including low muscle tone (hypotonia), movement disorders, gait issues, and epilepsy in 14% of cases; cognitive impairments ranged from mild to severe in most participants.
  • - The research expands on existing literature to propose a correlation between specific gene variations (genotype) and the observed symptoms (phenotype) in SETD5-related disorders.
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Although the Internet grants access to a large amount of information, it is crucial to verify its reliability before relying on it. False information is a dangerous medium that poses a considerable threat, as it impacts individuals' perceptions and information processing, eventually shaping people's behaviors. Misinformation can be weaponized, especially in cross-border conflicts, where it can be used as a means to erode social cohesion by manipulating public opinion and exacerbate tensions between nations.

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Background And Purpose: ITPR3 encodes type 3 inositol-tri-phosphate receptor (IPR3), a protein expressed in Schwann cells, predominantly in the paranodal region, and involved in the regulation of Ca release from the endoplasmic reticulum. Dominant variants in ITPR3 have recently been recognized as a rare cause of intermediate Charcot-Marie-Tooth disease (CMT).

Methods: We collected the clinical data of a family with autosomal dominant neuropathy whose proband was diagnosed with chronic inflammatory demyelinating polyneuropathy (CIDP) for many years.

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Mounting evidence indicates that periodontitis-related oral bacteria may contribute to gut microbial dysbiosis. This clinical study aimed to explore the oral-gut microbial signatures associated with periodontitis and to longitudinally evaluate the effect of periodontal treatment on the oral and gut microbial composition. Stool and saliva samples from generalized stage III/IV periodontitis patients ( = 47) were collected and analyzed by 16S ribosomal RNA gene amplicon sequencing, before and 3 mo after steps I to II of periodontal therapy.

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gene encodes the alpha-1 chain of type-II procollagen. Heterozygous pathogenic variants are associated with the broad clinical spectrum of genetic diseases known as type-II collagenopathies. We aimed to characterize the NM_001844.

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