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A novel variant associated with NEDDFSA and new ocular features: case report and review of literature.
Ophthalmic Genet
December 2024
Department of Ophthalmology, Université de Montréal, Montreal, Québec, Canada.
Introduction: Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies (NEDDFSA) is a recently described syndromic disease linked to genetic variants. We present a novel variant associated with a phenotype of NEDDFSA in a pediatric patient presenting with multiple anomalies including bilateral congenital ptosis and blepharophimosis, floppy eyelids, telecanthus, downward palpebral slants, myopia, cryptorchidism, hallux valgus and developmental delay.
Methods: Genetic testing performed on a large panel revealed a likely pathogenic variant in the gene (heterozygous, c.
[Clinical features and genetic analysis of two children with Mowat-Wilson syndrome due to variants of ZEB2 gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
December 2024
Ningbo Key Laboratory for the Prevention and Treatment of Embryogenic Diseases, Central Laboratory of Birth Defects Prevention and Control, the Affiliated Women and Children's Hospital of Ningbo University, Ningbo, Zhejiang 315012, China.
Objective: To explore the clinical features and genetic variants in two children with Mowat-Wilson syndrome (MWS).
Methods: Two children admitted to the Affiliated Women and Children's Hospital of Ningbo University respectively in May and October 2022 were selected as the study subjects. Clinical data of the patients were collected.
Peripheral straightness leads to shape diversification during formations of entire leaves.
J Theor Biol
January 2025
International Research Organization for Advanced Science and Technology (IROAST), Kumamoto University, Kumamoto, Japan; Meiji Institute for Advanced Study of Mathematical Science (MIMS), Meiji University, Tokyo, Japan. Electronic address:
The ways to read out positional information are essential to determine final shapes in developmental processes. Relative shaping to different sizes of positional information enables robust morphogenesis; however, the same difference sometimes causes diversity. Different responses to a positional information will enable such switching of identical/diverse shapes, though detail mechanisms remain unknown.
View Article and Find Full Text PDFNumerical study on a facing electrode configuration dielectrophoresis microfluidic system for efficient biological cell separation.
Sci Rep
November 2024
University of Science, Vietnam National University, Hanoi, Vietnam.
Circulating tumor cell separation has been the focus of numerous studies owing to its importance in the diagnosis, prognosis, and therapy of cancer. This study reports a highly efficient microfluidic device that integrates a specialized dielectrophoresis configuration, namely the facing-electrode configuration dielectrophoresis (FEC-DEP) structure, to isolate circulating tumor cells (CTCs) from various blood components, including red blood cells, white blood cells, and platelets. The FEC-DEP design features a bottom-slanted electrode array positioned parallel to a basic rectangular top electrode.
View Article and Find Full Text PDFA customized syringe for separating ingrown toe nail from the gutter.
J Cutan Aesthet Surg
December 2022
Mukhtar Skin Centre, KMCH Road, Katihar, Bihar, India.
Ingrown toenails is a painful foot problem seen in primary care among young men. To provide immediate pain relief, some types of splints are placed in the gutter to separate it from the ingrown lateral nail. There are time-consuming and effort-intensive procedures that use available nail separators and elevators to separate the nail plate.
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