RENAL HEREDITARY TUBULOPATHIES: PHOSPHATE DIABETES (Two clinical cases) DOI Open Access

OKSANA V. DAVYDOVA,

A. A. Antonova,

LARISA I. DERBENEVA

et al.

The Bulletin of Contemporary Clinical Medicine, Journal Year: 2024, Volume and Issue: 17(2), P. 124 - 129

Published: April 1, 2024

Introduction. Phosphate diabetes is a representative of group diseases known as tubulopathies. It more often hereditary nature. The disease manifests at an early age with symptoms similar to alimentary rickets, which creates problems for diagnosing and prescribing adequate therapy. In this case, the current situation leads development bone deformities disability, delayed physical development, need surgical treatment, reduces quality life patients long time. Aim: To consider two clinical cases phosphate typical symptoms, demonstrate challenges, analyze treatment effects. Materials Methods. Two are presented. first patient: 16 years old, observed from 2, takes vitamin D inorganic phosphates diagnosis date. geneticist found autosomal dominant pathology. girl underwent surgeries her leg deformity. second patient, 10 was diagnosed 4 years. DNA diagnostics detected mutation in COL9A3 gene. They refused complete exome sequencing. From date, patient treated active metabolite phosphates. Results Discussion. Clinician-observed: Patient 1 had deformities, painful legs, disharmonious caused by growth retardation. Blood concentrations calcium phosphorus within normal, there hypocalciuria urine, while normal. patient’s kidney function not impaired. 2 physically retarded, varus foot pes planovalgus feet. Kidney impaired, level alkaline phosphatase increased, total blood levels decreased indicating normal values, urine phosphaturia ranges. Due detected, Stickler syndrome excluded. Orthopedic surgeon recommended deformities. Conclusions. examination showed that therapy allows keeping under control avoiding side effects taking D.

Language: Английский

Unravelling the molecular interplay: SUMOylation, PML nuclear bodies and vascular cell activity in health and disease DOI Creative Commons
Janine Berkholz,

Weronika Karle

Cellular Signalling, Journal Year: 2024, Volume and Issue: 119, P. 111156 - 111156

Published: April 2, 2024

In the seemingly well-researched field of vascular research, there are still many underestimated factors and molecular mechanisms. recent years, SUMOylation has become increasingly important. is a post-translational modification in which small ubiquitin-related modifiers (SUMO) covalently attached to target proteins. Sites where these SUMO processes take place cell nucleus PML nuclear bodies (PML-NBs) - multiprotein complexes with their essential main component organizer, protein. SUMO, either alone or as partners, influence variety cellular processes, including regulation transcription, senescence, DNA damage response defence against microorganisms, involved innate immunity inflammatory responses. They also play an important role maintaining homeostasis system pathological leading development progression cardiovascular diseases. This review summarizes information about function SUMO(ylation) PML(-NBs) human vasculature from angiogenesis disease highlights clinical potential drug targets.

Language: Английский

Citations

0

ADJUSTING THE DRUG THERAPY IN PATIENTS AFTER BARIATRIC SURGERY DOI Open Access

VIOLETTA A. KOSOVA,

EKATERINA A. MESHKOVA,

AMATUNI A. BADOIAN

et al.

The Bulletin of Contemporary Clinical Medicine, Journal Year: 2024, Volume and Issue: 17(2), P. 104 - 111

Published: April 1, 2024

Introduction. Obesity is classified as a long-term condition with various causes and manifestations represents disproportionate accumulation of fat deposits in human body. It shown that overweight reduces the life expectancy increases likelihood multiple diseases, even young people. especially important to pay attention people suffering from extreme obesity. This term refers which body mass index exceeds 40 kg/m2. One methods combat this may be bariatric intervention. Procedures for adjusting drug therapy patients after surgery are common have already proven their effectiveness. Medication management techniques help improve patient care throughout entire treatment process, preparatory phase time ready leave hospital. The aim our study was systematize approaches who undergone surgery. Materials Methods. object Methodology based on scientific medical publications field statistical studies. 50 electronic libraries were studied analyzed, such eLibrary, Pubmed, Cyberlenika, Google Scholar 2010 2020 present. Results Discussion. In had taken vitamins minerals basis, there an improvement quality life, integrated approach obesity developed, reduction found concomitant risks. Conclusions. paper describes practical characteristics surgery, makes it possible more clearly determine strategy rehabilitation future lifestyle.

Language: Английский

Citations

0

LIFE QUALITY OF MYOCARDIAL INFARCTION PATIENTS ACCORDING TO THE PRESENCE OF TYPE D PERSONALITY DOI Open Access

Э. Г. Муталова,

VELENA R. GALYAUTDINOVA,

GULNARA J. KAMALTDINOVA

et al.

The Bulletin of Contemporary Clinical Medicine, Journal Year: 2024, Volume and Issue: 17(2), P. 64 - 70

Published: April 1, 2024

Introduction. Type D personality, or distress i. e., a combination of negative affectivity and social inhibition, as well poor life quality, are considered the predictors cardiovascular morbidity mortality. However, there is insufficient data on role personality determinant quality in myocardial infarction patients. Aim to assess Q-positive patients’ its association with personality. Materials Methods. The study included 158 patients aged 58.2±2.5 years, who were admitted hospital for ST-segment elevation infarction. was diagnosed accordance Clinical Guidelines Russian Society Cardiology, 2020. Пациентам анализируемых групп проведено определение общеклинических параметров, психологическое тестирование с применением оценочных шкал тревоги и депрессии, опросников DS-14 SF-36. Patients groups studied tested general clinical parameters psychological characteristics using anxiety depression rating scales, SF-36 questionnaires. Individuals without identified group Results Discussion. detected 29.1% In this group, an unfavorable profile noted: Their excitability, suppression, depression, personal/situational levels higher than lower decrease integral indicators physical psychologic components. Conclusions. proven provide adverse effect Cardiac rehabilitation programs should include interventions reduce traits, especially inhibition.

Language: Английский

Citations

0

ROLE OF THE GALECTIN-3 MARKER IN CHRONIC HEART FAILURE DOI Open Access

В. И. Шевцова,

А.А. Пашкова,

M. G. Kolpacheva

et al.

The Bulletin of Contemporary Clinical Medicine, Journal Year: 2024, Volume and Issue: 17(2), P. 118 - 123

Published: April 1, 2024

Introduction. Over decades, chronic heart failure has remained one of the most pressing health problems in developed countries, including Russian Federation. New methods are being actively and implemented to enable early diagnosis stratification risk. A particular importance is attached search for markers that allow very accurately predicting course disease. In recent years, galectin-3 a novel heart-failure biomarker. Aim. This study was aimed at analyzing modern scientific research publications dealing with role pathogenesis possibility using it as Material Methods. foreign literary sources were analyzed, related issues under over years 2002-2023. Results Discussion. Galectin-3 beta-galactoside-binding lectin secreted human tissue by macrophages. an important factor pathophysiology, mainly because its remodeling ventricles, due activation fibroblasts collagen secretion, which excessively deposited around cardiomyocytes. Various studies conducted had demonstrated positive correlation between level damage degree, particularly left ventricle. Studying patients frailty also showed relationship severity. Sarcopenic obesity suffering from significantly worsens their prognosis. Conclusions. Analysis available literature data allows us consider structurally unique functionally compound expressed various tissues cells body. plasma positively correlates severity changes structure functions. Thus, may be promising biomarker occurrence progression.

Language: Английский

Citations

0

RENAL HEREDITARY TUBULOPATHIES: PHOSPHATE DIABETES (Two clinical cases) DOI Open Access

OKSANA V. DAVYDOVA,

A. A. Antonova,

LARISA I. DERBENEVA

et al.

The Bulletin of Contemporary Clinical Medicine, Journal Year: 2024, Volume and Issue: 17(2), P. 124 - 129

Published: April 1, 2024

Introduction. Phosphate diabetes is a representative of group diseases known as tubulopathies. It more often hereditary nature. The disease manifests at an early age with symptoms similar to alimentary rickets, which creates problems for diagnosing and prescribing adequate therapy. In this case, the current situation leads development bone deformities disability, delayed physical development, need surgical treatment, reduces quality life patients long time. Aim: To consider two clinical cases phosphate typical symptoms, demonstrate challenges, analyze treatment effects. Materials Methods. Two are presented. first patient: 16 years old, observed from 2, takes vitamin D inorganic phosphates diagnosis date. geneticist found autosomal dominant pathology. girl underwent surgeries her leg deformity. second patient, 10 was diagnosed 4 years. DNA diagnostics detected mutation in COL9A3 gene. They refused complete exome sequencing. From date, patient treated active metabolite phosphates. Results Discussion. Clinician-observed: Patient 1 had deformities, painful legs, disharmonious caused by growth retardation. Blood concentrations calcium phosphorus within normal, there hypocalciuria urine, while normal. patient’s kidney function not impaired. 2 physically retarded, varus foot pes planovalgus feet. Kidney impaired, level alkaline phosphatase increased, total blood levels decreased indicating normal values, urine phosphaturia ranges. Due detected, Stickler syndrome excluded. Orthopedic surgeon recommended deformities. Conclusions. examination showed that therapy allows keeping under control avoiding side effects taking D.

Language: Английский

Citations

0