Publications by authors named "I A Chugunov"
Congenital hyperinsulinism (CHI) is a rare hereditary disease characterized by the development of hypoglycemia in both infants and adult patients. CHI may be induced by activating mutations in the () gene, which encodes the human glucokinase enzyme. This form of the disease is characterized by considerable phenotypic heterogeneity and may vary in severity of its course.
View Article and Find Full Text PDF[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
Objectives: Our study aimed to assess the safety and efficacy of cardiac contractility modulation (CCM) therapy in patients with heart failure with reduced ejection fraction (HFrEF) depending on HF etiology.
Methods: We enrolled 166 patients with optimal medical therapy-resistant HFrEF (median age 59 years, 83.7% males, median NYHA class - 2, median left ventricular ejection fraction (LVEF) - 29.
Article Synopsis
- Left atrial appendage (LAA) occluder embolization is a rare but critical complication occurring mostly within the first 24 hours after the procedure, with data collected from 67 centers on 108 patients.
- The management strategies included attempting percutaneous retrieval in 75% of cases, while 21.3% of patients underwent surgery without prior attempts, highlighting significant mortality rates associated with multiple retrieval attempts.
- Overall, a major adverse event rate of 43.5% was observed, underscoring the serious risks, including death, particularly following unsuccessful retrievals.
Peutz-Jeghers Syndrome (Peutz-Jeghers Syndrome, PJS) refers to syndromes of hereditary tumor predisposition and is caused by pathological variants of the STK11 gene, leading to a defect in the synthesis of serine/threonine kinase 11 protein, which acts as a tumor suppressor.Clinical symptoms of the syndrome are combination of hamartomatous polyposis of the gastrointestinal tract and specific skin-mucosal hyperpigmentation. Also, this disease is characterized by a high risk of developing gastrointestinal and extra-intestinal tumors, including benign or malignant tumors of the reproductive system.
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