The 22q11 deletion syndrome (22q11DS), or DiGeorge syndrome (DG), is one of the most common genetic deletion syndromes. DG also carries a high risk for psychiatric disorders, with learning disabilities frequently being reported. Impairments in specific cognitive domains, such as executive functioning and attention, have also been described. The aim of this study was to investigate attentional functioning in a group of subjects with DG using ERPs, and in particular the P300 and CNV components. We studied ten patients with DG and ten healthy subjects that performed a P300 Novelty task and a CNV motor task. P3b amplitude was significantly lower in patients than in controls, while P3b latency was comparable in patients and controls. The P3a parameters were similar in both groups. All CNV amplitudes were significantly lower in DG patients than in controls. DG patients displayed slower reaction times in the CNV motor task than healthy subjects. These results point to a cognitive dysfunction related above all to executive attentional processing in DG patients. In particular, a specific difficulty emerged in selective attention and in the ability to orient and to sustain the anticipatory attention required for an executive motor response.
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http://dx.doi.org/10.1007/s00702-018-1873-5 | DOI Listing |
Ann Neurol
January 2025
Research Unit of Neurology, Neurophysiology and Neurobiology, Department of Medicine and Surgery, Università Campus Bio-Medico di Roma, Rome, Italy.
Objective: Despite diagnostic criteria refinements, Parkinson's disease (PD) clinical diagnosis still suffers from a not satisfying accuracy, with the post-mortem examination as the gold standard for diagnosis. Seminal clinicopathological series highlighted that a relevant number of patients alive-diagnosed with idiopathic PD have an alternative post-mortem diagnosis. We evaluated the diagnostic accuracy of PD comparing the in-vivo clinical diagnosis with the post-mortem diagnosis performed through the pathological examination in 2 groups.
View Article and Find Full Text PDFClin Transl Med
February 2025
Division of Infectious Diseases, Department of Internal Medicine, Korea University Guro Hospital, Korea University College of Medicine, Seoul, Republic of Korea.
Pharmazie
December 2024
Department of Pharmacology and Toxicology, Faculty of Pharmacy, King Abdulaziz University, Jeddah, Saudi Arabia.
: Major Depressive Disorder (MDD) is a prevalent and debilitating mental disorder that has been linked to hyperhomocysteinemia and folate deficiency. These conditions are influenced by the methylenetetrahydrofolate reductase () gene, which plays a crucial role in converting homocysteine to methionine and is essential for folate metabolism and neurotransmitter synthesis, including serotonin. : This study explored the association between and polymorphisms among Saudi MDD patients attending the Erada Complex for Mental Health and Erada Services outpatient clinic in Jeddah, Saudi Arabia.
View Article and Find Full Text PDFOral Radiol
January 2025
Faculty of Dentistry, Department of Oral and Maxillofacial Radiology, Istanbul University, Istanbul, Turkey.
Objectives: This study evaluates the potential of pulp volume/total tooth-volume measurements of canine teeth in relation to chronologic age in patients with cleft lip and palate (CLP). The significance of this study lies in its exploration of the usability of these measurements for age determination in CLP patients, providing a novel perspective to the existing literature.
Methods: Cone beam computed tomography images of 33 patients (16 females, 17 males) with unilateral CLP aged 14-45 years and 33 age- and sex-matched healthy individuals (16 females, 17 males) were retrospectively evaluated.
J Urban Health
January 2025
Department of Geography, Florida State University, Bellamy Building, Room 323, 113 Collegiate Loop, PO Box 3062190, Tallahassee, FL, 32306-2190, USA.
Understanding when and where heat adversely influences health outcomes is critical for targeting interventions and adaptations. However, few studies have analyzed the role of indoor heat exposures on acute health outcomes. To address this research gap, the study partnered with the New York City Fire Department Emergency Medical Services.
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