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Polyconnectomic scoring of functional connectivity patterns across eight neuropsychiatric and three neurodegenerative disorders.
Biol Psychiatry
October 2024
Department of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands; Department of Child and Adolescent Psychiatry and Psychology, Amsterdam UMC location Vrije Universiteit Amsterdam, Amsterdam, The Netherlands. Electronic address:
Background: Neuropsychiatric and neurodegenerative disorders involve diverse changes in brain functional connectivity. As an alternative to approaches searching for specific mosaic patterns of affected connections and networks, we used polyconnectomic scoring to quantify disorder-related whole-brain connectivity signatures into interpretable, personalized scores.
Methods: The polyconnectomic score (PCS) measures the extent to which an individual's functional connectivity (FC) mirrors the whole-brain circuitry characteristics of a trait.
Phenotypic variability and management of patients with mosaic monosomy X and Y chromosome material: a case series.
Ital J Pediatr
May 2024
University of Monastir Faculty of Medicine of Monastir, Université de Monastir faculté de medicine de Monastir, Monastir, Tunisia.
Background: we aim to discuss the origin and the differences of the phenotypic features and the management care of rare form of disorder of sex development due to Mosaic monosomy X and Y chromosome materiel.
Methods: We report our experience with patients harboring mosaic monosomy X and Y chromosome material diagnosed by blood cells karyotypes and cared for in our department from 2005 to 2022.
Results: We have included five infants in our study.
Comparison of the performance of NIPT and NIPT-plus for fetal chromosomal aneuploidy and high Z-score increases the positive predictive value.
Int J Gynaecol Obstet
October 2024
Department of Obstetrics and Gynecology, Nanfang Hospital, Southern Medical University, Guangzhou, China.
Objective: To evaluate non-invasive prenatal testing (NIPT) and expanded non-invasive prenatal testing (NIPT-plus) for detecting aneuploidies at different sequencing depths and assess Z-score accuracy in predicting trisomies 21, 18, 13, 45X, and 47XXX.
Methods: Pregnancies with positive NIPT or NIPT-plus results detected at the prenatal diagnosis center of Nanfang Hospital were included in this retrospective study, between January 2017 and December 2022. Invasive prenatal diagnostic results were collected.
Clinical characteristics and surgical treatment of children with 45, X/46, XY differences of sex development.
J Pediatr Urol
August 2024
Department of Urology, College of Pediatrics, University of South China, Hunan Children's Hospital, No.86 Ziyuan Road, Yuhua District, Changsha, Hunan 410007, China. Electronic address:
Article Synopsis
- This study analyzed the medical data of 18 children with 45,X/46,XY differences in sexual development (DSD) to summarize their clinical characteristics and evaluate surgical options for treatment.
- The research involved various diagnostic methods, including HCG stimulation tests and laparoscopic surgeries, with a focus on determining the appropriate surgical interventions following multidisciplinary team discussions.
- The findings revealed a range of gender assignments among participants, details of gonadal dysgenesis types, and varied outcomes for those undergoing surgery, highlighting the complexity of managing DSD in pediatric patients.
Challenges in the management of Turner syndrome with Y chromosome material: a case report of prophylactic gonadectomy revealing dysgerminoma.
Int Cancer Conf J
April 2024
Department of Pediatrics, Shiga University of Medical Science, Seta Tsukinowa-cho, Otsu, Shiga 520-2192 Japan.
Turner syndrome (TS) patients with Y chromosome material face an increased risk of gonadal germ cell tumors (GCTs). This case report discusses the challenges in decision-making regarding prophylactic gonadectomy, considering the risk of malignancy and the desire to preserve fertility. We report a case of a 12-year-old female with mosaic TS and Y chromosome material who initially presented with short stature and obesity.
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