Publications by authors named "D L Brovin"
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.
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
Article Synopsis
- IgG4-related disease is a rare chronic condition characterized by infiltration of tissues, fibrosis, and elevated IgG4 levels, affecting less than 1 in 100,000 people annually.
- It was recognized as a distinct disease in 2001 and can impact various organs, including its association with Riedel's thyroiditis established in 2010.
- Riedel's thyroiditis is an exceptionally rare inflammatory thyroid disease with complex diagnosis, and there have been fewer than 300 reported cases globally, including only two in children.
Multiple endocrine neoplasia type 2B (MEN 2B) is a rare variant of hereditary tumor syndromes caused by germinal mutations in the proto-oncogene RET. One of the components of the syndrome is multiple neurinomas, the early detection of which is not always given due attention. We present a description of the case of MEN 2B, manifested in the first months of life by intestinal ganglioneuromatosis.
View Article and Find Full Text PDFBackground: Hyperthyreoidism due to Graves' disease is a rare disorder in pediatric practice. There is 2 treatment options in Graves' disease: medical treatment and definitive treatment, including surgery and radioactive iodine. Each method has its advantages and disadvantages.
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