Review
Pediatrics
Junxian Fu, Ting Wang, Zhuo Fu, Tianxia Li, Xiaomeng Zhang, Jingjing Zhao, Guanglu Yang
Summary: This study aimed to explore the clinical and genetic characteristics of 3p deletion syndrome. Most patients with the syndrome exhibit intellectual and motor development disabilities and abnormal facial features, with specific gene deletions depending on the size and location of the 3p deletion.
FRONTIERS IN PEDIATRICS
(2021)
Editorial Material
Medicine, General & Internal
Steve Kisely, Jeffrey C. L. Looi
Summary: Despite the government's significant investment in youth mental health, there is still room for improvement in outcomes.
MEDICAL JOURNAL OF AUSTRALIA
(2022)
Review
Pediatrics
Yingxiao Shen, Xiaoqin Xu, Jiansong Chen, Jingjing Wang, Guanping Dong, Ke Huang, Junfen Fu, Dingwen Wu, Wei Wu
Summary: In this study, whole exome sequencing, copy number variation sequencing, and mitochondrial gene detection were used to identify a microdeletion of 11q13.3q13.4 in a child with facial dysmorphia, developmental delay, intellectual disability, Fanconi renotubular syndrome, and Chiari malformations. The SHANK2 gene may be responsible for the intellectual disability phenotype, while the ANO1 gene may be associated with the renal manifestation of Fanconi renotubular syndrome. This case adds a new phenotype to the deletion of this region.
FRONTIERS IN PEDIATRICS
(2023)
Article
Medicine, General & Internal
Shuang-Zhu Lin, Xin-Yu Zhou, Wan-Qi Wang, Kai Jiang
Summary: This study reports the characteristic features of autism with dysphasia accompanied by mental retardation caused by FOXP1 exon deletion. It provides a molecular basis for etiological diagnosis and treatment of the child, as well as for genetic counseling for the pedigree.
WORLD JOURNAL OF CLINICAL CASES
(2021)
Article
Genetics & Heredity
Yu Liu, Ying Yang, Liming Chu, Shuai Ren, Ying Li, Aimin Gao, Jing Wen, Wanling Deng, Yan Lu, Lingyin Kong, Bo Liang, Xiaoshan Shao
Summary: This article presents a case of a Chinese boy with a rare interstitial deletion in the long arm of chromosome 20, containing the GNAS locus. The patient's clinical symptoms and treatment outcomes are described, providing valuable information for the diagnosis and treatment of similar cases.
FRONTIERS IN GENETICS
(2022)
Review
Clinical Neurology
Adriana Colar Ferreira, Flavia de Lima Osorio
Summary: This study provides a systematic review and meta-analysis on the relationship between peripheral oxytocin levels and psychiatric disorders. The findings suggest that lower oxytocin concentrations are associated with certain disorders, while higher levels are found in bipolar disorder and obsessive disorder. However, caution is needed in interpreting the results due to the heterogeneity among studies. Further research is needed to understand the oxytocin levels in disorders such as body dysmorphic disorder, posttraumatic stress disorder, and trichotillomania.
PROGRESS IN NEURO-PSYCHOPHARMACOLOGY & BIOLOGICAL PSYCHIATRY
(2022)
Article
Pediatrics
Sebastian Giraldo-Ocampo, Harry Pachajoa
Summary: This article describes a 3-year-old Colombian patient with 2q37 deletion syndrome. The diagnosis was made through genetic testing using microarray-based comparative genomic hybridization. The study provides information for expanding the phenotypical and genetic characterization of 2q37 deletion syndrome.
Article
Medicine, Research & Experimental
Baolin Wang, Hang Yin, Hongmei Zhang, Tiantian Wang
Summary: The study demonstrates that circNRIP1 contributes to keloid progression by aiding in pre-miR-503 maturation through stabilizing FXR1 and impeding its degradation. High expression of circNRIP1 in keloid tissue and fibroblasts suggests its potential as a therapeutic target for keloid treatment.
INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
(2021)
Article
Biochemistry & Molecular Biology
Josefin Johansson, Sarah Lideus, Carina Frykholm, Cecilia Gunnarsson, Filip Mihalic, Sanna Gudmundsson, Sara Ekvall, Anna-Maja Molin, Mai Pham, Mauno Vihinen, Kristina Lagerstedt-Robinson, Ann Nordgren, Per Jemth, Adam Ameur, Goeran Anneren, Maria Wilbe, Marie-Louise Bondeson
Summary: This study reveals the genetic and molecular factors underlying Gustavson syndrome, and identifies a novel in-frame deletion in the RBMX gene associated with this syndrome, leading to disrupted RNA polymerase II transcription and potentially reduced SH3 binding. These findings provide new insights into the pathogenesis of RBMX-related intellectual disabilities.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Medicine, Research & Experimental
Steven Arild Wuyts Andersen, Brad Hittle, Maria Vaerendh, Julian Lee, Varun Varadarajan, Kimerly A. Powell, Gregory J. Wiet
Summary: The study aims to gather evidence for the validity of patient-specific virtual reality simulation in cochlear implant surgery through analysis and comparison with postoperative imaging. Differences in performance between trainees and attendings were found in the simulation, and the approach of volume comparison could be used for further validation.
Article
Endocrinology & Metabolism
Anna-Pauliina Iivonen, Juho Karkinen, Venkatram Yellapragada, Virpi Sidoroff, Henrikki Almusa, Kirsi Vaaralahti, Taneli Raivio
Summary: This report describes a patient with Weiss-Kruszka syndrome and Kallmann syndrome, who has a de novo 2.38 Mb heterozygous deletion in the chromosome 9q31.2 region. The deletion involves the loss of six protein-coding genes, with ZNF462 haploinsufficiency possibly contributing to the patient's phenotype but not explaining the Kallmann syndrome. Further analyses did not identify rare sequence variants in known Kallmann syndrome genes or aberrant splicing in expressed KS genes, suggesting a complex genetic mechanism underlying the patient's condition.
EUROPEAN JOURNAL OF ENDOCRINOLOGY
(2021)
Article
Multidisciplinary Sciences
Annunziata D'Elia, Sara Schiavi, Antonia Manduca, Alessandro Rava, Valeria Buzzelli, Fabrizio Ascone, Tiziana Orsini, Sabrina Putti, Andrea Soluri, Filippo Galli, Alessandro Soluri, Maurizio Mattei, Rosella Cicconi, Roberto Massari, Viviana Trezza
Summary: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by social interaction difficulties, communication impairments, and repetitive behaviors. This study used Fmr1(Delta)exon 8 rats as a genetic model of ASD to investigate the association between striatal dopamine transporter (DAT) availability and repetitive behaviors. The findings showed that Fmr1(Delta)exon 8 rats displayed hyperactivity but no repetitive behaviors in the open field test.
SCIENTIFIC REPORTS
(2022)
Article
Behavioral Sciences
Eric T. Greenlee, Patricia R. DeLucia, Tiffany G. Lui
Summary: This study aimed to investigate whether depletion of modality-specific resources contributes to the vigilance decrement. The results suggest that supramodal resource depletion is the most likely explanation for the vigilance decrement. Modality changes are not likely to counteract the vigilance decrement and may actually increase false alarm errors.
Article
Psychiatry
Naomi Launders, Laura Scolamiero, David P. J. Osborn, Joseph F. Hayes
Summary: This study found that patients with schizophrenia have lower rates of cancer diagnosis but higher all-cause and cancer-specific mortality rates following diagnosis. Premature mortality does not explain these differences, suggesting the presence of barriers to cancer diagnosis and treatment.
SCHIZOPHRENIA RESEARCH
(2022)
Article
Biochemistry & Molecular Biology
Rebekah Tillotson, Keqin Yan, Julie Ruston, Taylor DeYoung, Alex Cordova, Valerie Turcotte-Cardin, Yohan Yee, Christine Taylor, Shagana Visuvanathan, Christian Babbs, Evgueni A. Ivakine, John G. Sled, Brian J. Nieman, David J. Picketts, Monica J. Justice
Summary: ATRX is a chromatin remodelling ATPase that plays a role in transcriptional regulation, DNA damage repair and heterochromatin maintenance. Mutations in the ATRX gene cause ATR-X syndrome, a rare disorder characterized by intellectual disability and various physical abnormalities. The development of a patient-relevant knock-in mouse model carrying the R246C mutation has provided insights into the molecular mechanisms of ATR-X syndrome and offers a platform for testing potential therapies.
HUMAN MOLECULAR GENETICS
(2023)
