Publications by authors named "O B Bezlepkina"
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.
Background: Type 1 diabetes mellitus (T1DM) is the most common form of diabetes mellitus in childhood, where, unlike in adults, it accounts for more than 90% of all cases of diabetes. The constant change in the epidemiology of T1DM with significant differences in populations and regions requires systematic data collection and analysis for timely monitoring of T1DM trends.
Aim: Analysis of the main epidemiological indicators of T1DM in children in the Russian Federation over the past 10 years - from 2014 to 2023.
[Adrenal insufficiency as part of X-linked adrenoleukodystrophy].
Probl Endokrinol (Mosk)
December 2023
Article Synopsis
- - X-linked adrenoleukodystrophy (X-ALD) is a serious genetic disorder affecting one in 17,000 newborn boys, often leading to adrenal insufficiency (AI), which can be life-threatening if not treated promptly.
- - A study of 66 male patients diagnosed with primary AI due to X-ALD was conducted in Moscow from 2014 to 2022 to understand the diagnostic and treatment aspects of this condition.
- - The research found that the average age for the first signs of X-ALD was 6.6 years, with AI often detected as early as 1.5 years, showing variations in disease manifestation and age of diagnosis among different forms of X-AL
Article Synopsis
- Primary hyperparathyroidism (PHPT) is a rare endocrine disorder in children, characterized by excessive parathyroid hormone secretion, leading to elevated blood calcium levels, and may remain undiagnosed due to non-specific symptoms like nausea and abdominal pain.
- A study of 49 children diagnosed with PHPT revealed common initial symptoms including fatigue and pain, with diagnosis occurring around age 15, and high levels of parathyroid hormone and calcium being prevalent among patients.
- Genetic analysis found mutations in about 32.7% of cases, with MEN1 mutations being most common, and many patients also presented with various forms of thyroid adenomas upon surgical examination.
[The clinical case of IgG4-related thyroid disease in a 6-year-old child].
Probl Endokrinol (Mosk)
October 2023
IgG4-related disease is a rare chronic pathology manifested by lymphoplasmacytic infiltration of one or more organs, the formation of storiform fibrosis, tissue edema, and an increase of IgG4 in the blood. This disease was singled out as an independent nosological unit only in 2001. The incidence is less than 1 in 100,000 people per year.
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