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| http://dx.doi.org/10.3760/cma.j.issn.0253-2727.2023.06.017 | DOI Listing |
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Identification of copy-number variants in patients with overgrowth disorders.
Clin Genet
November 2024
CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.
Overgrowth syndromes (OGS) comprise a heterogeneous group of disorders whose main characteristic is that the weight, height or the head circumference are above the 97th centile or 2-3 standard deviations above the mean for age, gender, and ethnic group. Several copy-number variants (CNVs) have been associated with the development of OGS, such as the 5q35 microdeletion or the duplication of the 15q26.1-qter, among many others.
View Article and Find Full Text PDFClinical and Genetic Characterization of a Cohort of Small-for-Gestational-Age Patients: Cost-Effectiveness of Whole-Exome Sequencing and Effectiveness of Treatment with GH.
J Clin Med
July 2024
Department of Pediatric Endocrinology, University Hospital of Málaga, 29010 Málaga, Spain.
Develop a clinical and genetic characterization, in a group of small-for-gestational-age (SGA) patients who did not experience catch-up growth In an ambispective cohort study with (SGA) patients. These patients received one treatment with growth hormone (GH) over 14 years. This study analyzes their response to treatment and conducts a genetic analysis in order to identify cases with specific phenotypic and auxological characteristics, defined as presenting two or more dysmorphic traits and/or a stature below -3 SDS (standard deviation score).
View Article and Find Full Text PDFSpecial clinical entity with 15q26 deletion: a novel case report.
J Genet
June 2024
Department of Pediatrics, Affiliated Hospital of Guizhou Medical University, Guiyang 550004, People’s Republic of China.
In the past, there were no easily distinct and recognizable features as a guide for precise clinical and genetic diagnosis of cases with chromosome microdeletions involving 15q26 including . The present study analysed the clinical data and collected venous blood samples from a pediatric patient and his healthy family members for DNA testing. The whole-exome sequencing was performed by the next-generation sequencing (NGS).
View Article and Find Full Text PDFClinical characteristics of and growth hormone treatment effects on short stature with type 1 insulin-like growth factor receptor (IGF1R) gene alteration.
Endocr J
July 2024
Department of Pediatrics, Shimane University Faculty of Medicine, Shimane 693-8501, Japan.
Article Synopsis
- Short stature linked to IGF-1 receptor (IGF1R) gene alterations, identified as small-for-gestational-age (SGA) short stature, is not well understood in terms of prevalence and clinical traits, with no dedicated treatments in Japan.
- An analysis of 13 patients revealed that cases with chromosome 15q26.3 deletions presented more severe growth issues, while those with IGF1R gene variants showed no distinct symptoms; only a few had elevated serum IGF1 levels.
- Six patients receiving growth hormone (GH) therapy had improved growth without side effects or increased IGF1 levels, highlighting the importance of genetic testing and more research on GH treatment for this condition.
Genomics of severe and treatment-resistant obsessive-compulsive disorder treated with deep brain stimulation: A preliminary investigation.
Am J Med Genet B Neuropsychiatr Genet
December 2024
Centre for Psychiatry Research, Department of Clinical Neuroscience, Karolinska Institutet & Stockholm Health Care Services, Stockholm, Sweden.
Individuals with severe and treatment-resistant obsessive-compulsive disorder (trOCD) represent a small but severely disabled group of patients. Since trOCD cases eligible for deep brain stimulation (DBS) probably comprise the most severe end of the OCD spectrum, we hypothesize that they may be more likely to have a strong genetic contribution to their disorder. Therefore, while the worldwide population of DBS-treated cases may be small (~300), screening these individuals with modern genomic methods may accelerate gene discovery in OCD.
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