Objective: To evaluate neurocognitive performance in first-episode schizophrenic patients and unaffected first-degree relatives of different patients samples.
Methods: A total of 42 patients with first-episode schizophrenia, 24 unaffected first-degree relatives and 40 healthy individuals, matched with age, gender and years of education, were recruited from both outpatients and inpatients after being diagnosed with structured tool (SCID-I/P). Subjects' cognitive performance was evaluated by a set of neuropsychological test battery, which assessed four cognitive domains including learning and memory, motor skills, speed of processing and executive function.
Results: Healthy individuals performed better than first-episode schizophrenic patients in nearly all cognitive domains (ES=0.63-1.54) with exception of inhibition sub-domain. first-degree relatives showed moderate impairment in verbal learning (ES=0.62), digital symbol (ES=1.05), symbol search (ES=1.18), animal category (ES=0.80) and WCST perseverate errors (ES=0.68). Degree of impairment in first-degree relatives was less than that in the patients.
Conclusion: Patients with first-episode schizophrenia have global neurocognitive deficits. Independent first-degree relatives also have deficits in some neurocognitive domains, with a moderate degree between patients and normal controls. Our results indicate that neurocognitive performance may be viewed as a biomarker for candidates reflecting genetic liability for schizophrenia.
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BJS Open
December 2024
Department of Cardiology, Thorax Centre, Cardiovascular Institute, Erasmus MC, Rotterdam, The Netherlands.
Background: Contrary to the impact of screening, the effect of long-term surveillance on the quality of life of patients with an abdominal aortic aneurysm is not well known. Therefore, the aim of this study was to describe patient-reported outcomes of patients with an abdominal aortic aneurysm approaching the surgical threshold.
Methods: This multicentre, observational cohort study included patients with an abdominal aortic aneurysm with a maximum aneurysm diameter of greater than or equal to 40 mm.
Eur J Case Rep Intern Med
December 2024
Internal Medicine, Holy Family Hospital, Rawalpindi, Pakistan.
Background: Andersen-Tawil syndrome (ATS) is a rare autosomal dominant disorder caused by variants in the gene. It is associated with periodic paralysis, dysmorphic features and cardiac arrhythmias. The syndrome exhibits incomplete penetrance, leading to a broad spectrum of clinical manifestations, making diagnosis challenging.
View Article and Find Full Text PDFInt J Mol Sci
December 2024
Sathyamoorthy Laboratory, Department of Medicine, Burnett School of Medicine at TCU, Fort Worth, TX 76104, USA.
After reporting the first known clinical case associating compound heterozygous single-nucleotide variants in Exon 2 of to aortic aneurysmal and iliac dissection, we began prospective surveillance in our vascular genetic practice for similar cases. Herein, we present nine (9) subjects from a total cohort of 135 with arterial aneurysms or dissections who revealed single-nucleotide variants in with no other alterations in a panel of 35 genes associated with aneurysmal and dissection disorders. Five out of nine (5/9) single-nucleotide variants were in Exon 1, and four out of nine (4/9) mutations were in Exon 2, both of which are principal coding exons for this gene.
View Article and Find Full Text PDFGenes (Basel)
December 2024
Department of Clinical Genetics, Medical University of Lodz, Pomorska Str. 251, 92-213 Lodz, Poland.
-spectrum disorders are caused by a mutation in the gene. The term includes a wide range of rare disorders, from the most severe Wolfram syndrome with autosomal recessive inheritance to milder clinical manifestations with a single causative variant in the gene, such as Wolfram-like syndrome, low-frequency sensorineural hearing loss (LFSNHL), isolated diabetes mellitus (DM), nonsyndromic optic atrophy (OA), and isolated congenital cataracts. The aim of this study was to evaluate genotype-phenotype correlations in Polish patients with -spectrum disorders.
View Article and Find Full Text PDFRev Med Chil
June 2024
Departamento de endocrinología, Hospital Clínico San Borja Arriarán, Santiago, Chile.
Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant disease with an estimated prevalence of 2 per 100,000. This disease is caused by a mutation in the tumor suppressor gene MEN1, which is located on chromosome 11 and codifies the menin protein. It is characterized by a predisposition of parathyroids, enteropancreatic, and anterior pituitary tumors, affecting the quality of life and lifespan of those who have the disease.
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