Publications by authors named "E A Nagaeva"
Context: Pathogenic variants in the TBCE gene, encoding tubulin-specific chaperone E crucial for tubulin folding, are linked to three severe neurodevelopmental disorders: Hypoparathyroidism-retardation-dysmorphism (HRD) syndrome, Kenny-Caffey syndrome type 1, and progressive encephalopathy with amyotrophy and optic atrophy.
Objective: We identified patients with a novel, milder TBCE-associated phenotype and aimed to characterize it at the clinical and molecular levels.
Materials And Methods: We conducted splicing analysis using deep NGS sequencing of RT-PCR products and detected TBCE through Western blotting.
Article Synopsis
- - Cowden syndrome, caused by mutations in the PTEN gene, increases the risk of various tumors due to disrupted cell cycle regulation, leading to unchecked cell growth throughout a person's life.
- - A clinical case presented discusses a 7-year-old patient with typical features of Cowden syndrome, including macrocephaly and skin manifestations like trichilemmomas and keratosis, alongside benign and malignant tumors.
- - Common malignancies associated with Cowden syndrome are breast, thyroid, colorectal, renal cell, and endometrial cancers, with thyroid cancer often developing early in childhood, necessitating regular screenings for affected individuals.
[Growth hormone - 30 years of clinical practice: past, present, future].
Probl Endokrinol (Mosk)
February 2024
Article Synopsis
- * This advancement led to extensive research on the efficacy and safety of rGH, focusing on optimal usage and dosing strategies.
- * Long-term clinical experience with somatropin has provided valuable insights into its effectiveness for children with somatotropic insufficiency and its effects on different organs and systems, broadening its potential applications.
[A promising approach for therapy control in congenital adrenal hyperplasia. Problems of Endocrinology].
Probl Endokrinol (Mosk)
January 2024
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders requiring lifelong glucocorticoid replacement (GC) therapy. Lack of GC therapy leads to precocious puberty in boys, heterosexual development in girls, accelerated bone maturation and short final height in both sexes. In adolescence, the lack of GC therapy is the cause of menstrual disorders in girls and the development of TART in boys, as a result reducing the reproductive potential in both sexes.
View Article and Find Full Text PDFGraves' disease (GD) is the leading cause of hyperthyroidism in pediatric patients. Radioactive iodine therapy (RAIT) is widely used to treat GD. However, it is still unclear exactly what determines the efficacy of RAIT in childhood and adolescence.
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