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R243W Mutation in Thyroid Hormone Resistance Syndrome Beta: A Case Report.
J ASEAN Fed Endocr Soc
December 2024
Department of Pediatrics, School of Medical Sciences, Universiti Sains Malaysia.
A three-year-old girl with a history of recurrent tonsillitis was investigated for failure to thrive and global developmental delay. Clinically, she had a triangular face with low-set ears and intermittent tachycardia. She had growth failure with her weight under the third centile while her height was within normal limits.
View Article and Find Full Text PDFViral Myositis in a Pediatric Patient Following Influenza Infection: A Case Report.
Cureus
October 2024
Department of Pediatrics, University of Kentucky Children's Hospital, Lexington, USA.
Viral myositis is an uncommon sequela associated with influenza virus infection, more common in children. We report a case of a three-year-old girl who developed viral myositis after suffering from influenza A infection. The patient was found to have leg pain associated with difficulty in walking.
View Article and Find Full Text PDFUncovering Deletion/Insertion Mutations in Veno-Occlusive Disease with Immunodeficiency Syndrome in An Iranian Family: A Case Report.
Cell J
October 2024
Department of Genetics, Faculty of Advanced Science and Technology, Tehran Medical Sciences, Islamic Azad University, Tehran, Iran.
Article Synopsis
- - Veno-occlusive disease with immunodeficiency (VODI) syndrome is a rare genetic disorder with immune system issues and high mortality, linked to mutations on chromosome 2q37.1, particularly concerning tuberculosis.
- - A case study of a three-year-old girl with suspected immunodeficiency utilized whole-exome sequencing (WES) to find and confirm pathogenic mutations, revealing a novel deletion-insertion mutation affecting the SP110 protein.
- - This research aims to improve the diagnosis of VODI syndrome by identifying various mutations in the SP110 gene, which could lead to targeted therapies and better treatment options.
Associations of BMI growth rates and body composition with cardiometabolic risks in Chinese preschool children.
J Clin Endocrinol Metab
August 2024
Capital Institute of Pediatrics, Beijing, China.
Objective: To examine the relationship between body mass index (BMI) growth rates, body composition, and cardiometabolic markers in preschool children.
Methods: Three-year-old children were recruited for this cohort study. BMI and body composition measurements were obtained at enrollment, with multiple BMI measurements spanning ages 1 month to 3 years extracted from medical records.
Clinical Implications of Temporomandibular Condyle Agenesis in a Toddler.
J Dent Child (Chic)
May 2024
Associate Professor, Graduate Program Director and Chief of the Division of Pediatric Dentistry, College of Dentistry, University of Kentucky, Lexington, KY, USA.
Agenesis of the temporomandibular condyle is a congenital/developmental disorder that can present with the absence of the condyle and an incomplete development of the articular fossa and eminence, resulting in facial asymmetry as well as masticatory dysfunction. The purpose of this report is to present the case of a three-year-old girl with absence of the left temporomandibular condyle. The patient presented with pain and dysfunction in the left masseter muscle, pre-auricular area and ear as well as mild chin deviation to the left.
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