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ОСНОВЫ МЕДИКО-ГЕНЕТИЧЕСКОГО КОНСУЛЬТИРОВАНИЯ И ПРИНЦИПЫ ЛЕЧЕНИЯ ПАЦИЕНТОВ С НАСЛЕДСТВЕННЫМИ НАРУШЕНИЯМИ ЛИПИДНОГО ОБМЕНА, 2022
Owing to identifying genes that determine the development of lipid metabolism disorders, the prer... more Owing to identifying genes that determine the development of lipid metabolism disorders, the prerequisites for the use of medical
genetic counseling in general medical practice have appeared.
Purpose. To analyze and summarize the literature data on the basics of medical genetic counseling and identify the possibilities
of its use for the diagnosis genetic dyslipidemia and their pharmacological correction.
Materials and methods. In selecting material for writing a review article, we used databases like PubMed, Google Scholar,
ScienceDirect, UptoDate, Science Research Portal, CiteSeer, ResearchIndex, and other resources. The following words and phrases
were chosen as the parameters for selecting literature: medical genetic counseling, genetic disorders, hypercholesterolemia,
genetic dyslipidemias, treatment of dyslipidemias.
Results and discussion. In determining the genetic predisposition to ASCVD, the family history should include a standard
pedigree with three generations, taking into account the age and sex of each relative, the age of manifestation of the disease, the
age of death, and its cause, the degree of consanguinity and other parameters.
If we want to realize the potential of family history as a tool, we need a systematic approach. We write the pedigree has identified
history data of instrumental and biochemical studies. Genetic testing begins with a family member who already has signs of a
family illness.
Before providing information to the counselee about the disease, it is necessary to formulate a counseling program, compose the
examination results into a working diagnosis, and develop a plan for working with the patient.
For treatment and primary prevention in patients with genetic dyslipidemia and a very high risk of CVD, the international
cardiological association recommends conducting targeted therapy depending on the nature of the genetic defect.
Conclusion. The use of medical genetic counseling and timely diagnosis of hereditary dyslipidemia helps to identify patients and
their families at increased risk of developing ASCVD. Modern prevention and treatment of patients improve prognosis and life
expectancy.
РОЛЬ СЕМЕЙНОГО АНАМНЕЗА И ГЕНЕТИЧЕСКОЙ ПРЕДРАСПОЛОЖЕННОСТИ В ВЫЯВЛЕНИИ ИШЕМИЧЕСКОЙ БОЛЕЗНИ СЕРДЦА У ЛИЦ МОЛОДОГО ВОЗРАСТА. ЛИТЕРАТУРНЫЙ ОБЗОР, 2022
Сердечно-сосудистые заболевания (ССЗ) являются основной причиной смертности во всем мире, среди к... more Сердечно-сосудистые заболевания (ССЗ) являются основной причиной смертности во всем мире, среди которых ишемическая болезнь сердца (ИБС) является самой распространенной. Поэтому так важно не только заниматься диагностикой и лечением ССЗ и ИБС, но и профилактикой, одним из этапов которой должно быть выявление лиц молодого поколения, находящихся в высокой зоне риска. Результаты эпидемиологических и клинических исследований показывают, что семейный анамнез, как показатель наследуемости, является важным фактором риска неинфекционных хронических заболеваний. Чтобы обезопасить молодых людей необходимо собрать подробный семейный анамнез с целью выявления предикторов ИБС у родителей и ближайших родственников, поскольку контроль расширенного липидного уровня в обязательном порядке у них не проводится в период диспансеризации. В связи с этим доктора могут пропустить генетические нарушения липидного обмена. Понимание наследственных причин ИБС потенциально способно существенно улучшить профилактику, прогнозирование и терапию ИБС.
Clinical Journal of Oncology Nursing, 2012
Chronic obstructive pulmonary disease (COPD) is a progressing disease accompanied by rapid disabi... more Chronic obstructive pulmonary disease (COPD) is a progressing disease accompanied by rapid disability and high mortality. COPD is a worldwide problem and the third leading cause of death. According to an epidemiological study conducted with the participation of 12 research centers in the Russian Federation, the prevalence of COPD among people with respiratory symptoms was 21.8%, and among people in the general population – 15.3%. This article discusses the issues of
COPD diagnosis optimization during the medical examination of a young and middle-aged population (from 18 to 60 years old) and subsequent monitoring. The article presents an analysis of questionnaires and rating
scales, approved by regulatory documents, for early diagnosis of the disease with subsequent diagnosing, monitoring of treatment, and the quality of life of patients throughout the entire time.
Tumor lysis syndrome is a condition that debuts within 48–72 hours after the start of chemotherap... more Tumor lysis syndrome is a condition that debuts within 48–72 hours after the start of chemotherapy and is accompanied by the breakdown of tumor cells with subsequent metabolic disorders. For their early
detection at the outpatient stage, the patient should be under the dynamic supervision of specialists so that the developing metabolic changes do not lead to complications in the form of acute kidney damage, multiple organ failure, and death. This article discusses
step-by-step questions about the prevention of tumor lysis syndrome, observation with the aim of verification of patients with moderate and high risk of complications during chemotherapy followed by the oppointment of basic treatment. Issues related to risk factors, epidemiology, pathogenesis, classification and clinical manifestations of the syndrome itself are also considered.
Cervical cancer is one of the most common types of cancer. Human papillomavirus (HPV) infection i... more Cervical cancer is one of the most common types of cancer. Human papillomavirus (HPV) infection is a proven cause of cervical cancer, and there is growing evidence that oncogenic HPV types cause most cervical, penile, vulvar, vaginal, anal. Oropharyngeal cancers
and precancerous conditions, whereas non-oncogenic, low-risk HPV infection, causes genital warts and recurrent respiratory papillomatosis. New promising methods for detection and typing of HPV appear daily:
mass spectrometry genotyping of human papillomavirus based on nanomaterials high-efficiency selective enrichment, next-generation sequencing, CRISPR / Cas9, and others. Nevertheless, currently, quantitative PCR is still better than the newest methods because of the following advantages: it is relatively easy to use, there are many reliable, tested, and registered plans based on it, it is a relatively cheap method (inexpensive reagents and instruments), a large number of laboratories is equipped with instrumentation and trained personnel
for real-time PCR. It is all combined with the high sensitivity and specificity of this method.
G. S. Katinas (6 October 1925 – 4 September 2014), 2015
ОСНОВЫ МЕДИКО-ГЕНЕТИЧЕСКОГО КОНСУЛЬТИРОВАНИЯ И ПРИНЦИПЫ ЛЕЧЕНИЯ ПАЦИЕНТОВ С НАСЛЕДСТВЕННЫМИ НАРУШЕНИЯМИ ЛИПИДНОГО ОБМЕНА, 2022
Owing to identifying genes that determine the development of lipid metabolism disorders, the prer... more Owing to identifying genes that determine the development of lipid metabolism disorders, the prerequisites for the use of medical
genetic counseling in general medical practice have appeared.
Purpose. To analyze and summarize the literature data on the basics of medical genetic counseling and identify the possibilities
of its use for the diagnosis genetic dyslipidemia and their pharmacological correction.
Materials and methods. In selecting material for writing a review article, we used databases like PubMed, Google Scholar,
ScienceDirect, UptoDate, Science Research Portal, CiteSeer, ResearchIndex, and other resources. The following words and phrases
were chosen as the parameters for selecting literature: medical genetic counseling, genetic disorders, hypercholesterolemia,
genetic dyslipidemias, treatment of dyslipidemias.
Results and discussion. In determining the genetic predisposition to ASCVD, the family history should include a standard
pedigree with three generations, taking into account the age and sex of each relative, the age of manifestation of the disease, the
age of death, and its cause, the degree of consanguinity and other parameters.
If we want to realize the potential of family history as a tool, we need a systematic approach. We write the pedigree has identified
history data of instrumental and biochemical studies. Genetic testing begins with a family member who already has signs of a
family illness.
Before providing information to the counselee about the disease, it is necessary to formulate a counseling program, compose the
examination results into a working diagnosis, and develop a plan for working with the patient.
For treatment and primary prevention in patients with genetic dyslipidemia and a very high risk of CVD, the international
cardiological association recommends conducting targeted therapy depending on the nature of the genetic defect.
Conclusion. The use of medical genetic counseling and timely diagnosis of hereditary dyslipidemia helps to identify patients and
their families at increased risk of developing ASCVD. Modern prevention and treatment of patients improve prognosis and life
expectancy.
РОЛЬ СЕМЕЙНОГО АНАМНЕЗА И ГЕНЕТИЧЕСКОЙ ПРЕДРАСПОЛОЖЕННОСТИ В ВЫЯВЛЕНИИ ИШЕМИЧЕСКОЙ БОЛЕЗНИ СЕРДЦА У ЛИЦ МОЛОДОГО ВОЗРАСТА. ЛИТЕРАТУРНЫЙ ОБЗОР, 2022
Сердечно-сосудистые заболевания (ССЗ) являются основной причиной смертности во всем мире, среди к... more Сердечно-сосудистые заболевания (ССЗ) являются основной причиной смертности во всем мире, среди которых ишемическая болезнь сердца (ИБС) является самой распространенной. Поэтому так важно не только заниматься диагностикой и лечением ССЗ и ИБС, но и профилактикой, одним из этапов которой должно быть выявление лиц молодого поколения, находящихся в высокой зоне риска. Результаты эпидемиологических и клинических исследований показывают, что семейный анамнез, как показатель наследуемости, является важным фактором риска неинфекционных хронических заболеваний. Чтобы обезопасить молодых людей необходимо собрать подробный семейный анамнез с целью выявления предикторов ИБС у родителей и ближайших родственников, поскольку контроль расширенного липидного уровня в обязательном порядке у них не проводится в период диспансеризации. В связи с этим доктора могут пропустить генетические нарушения липидного обмена. Понимание наследственных причин ИБС потенциально способно существенно улучшить профилактику, прогнозирование и терапию ИБС.
Clinical Journal of Oncology Nursing, 2012
Chronic obstructive pulmonary disease (COPD) is a progressing disease accompanied by rapid disabi... more Chronic obstructive pulmonary disease (COPD) is a progressing disease accompanied by rapid disability and high mortality. COPD is a worldwide problem and the third leading cause of death. According to an epidemiological study conducted with the participation of 12 research centers in the Russian Federation, the prevalence of COPD among people with respiratory symptoms was 21.8%, and among people in the general population – 15.3%. This article discusses the issues of
COPD diagnosis optimization during the medical examination of a young and middle-aged population (from 18 to 60 years old) and subsequent monitoring. The article presents an analysis of questionnaires and rating
scales, approved by regulatory documents, for early diagnosis of the disease with subsequent diagnosing, monitoring of treatment, and the quality of life of patients throughout the entire time.
Tumor lysis syndrome is a condition that debuts within 48–72 hours after the start of chemotherap... more Tumor lysis syndrome is a condition that debuts within 48–72 hours after the start of chemotherapy and is accompanied by the breakdown of tumor cells with subsequent metabolic disorders. For their early
detection at the outpatient stage, the patient should be under the dynamic supervision of specialists so that the developing metabolic changes do not lead to complications in the form of acute kidney damage, multiple organ failure, and death. This article discusses
step-by-step questions about the prevention of tumor lysis syndrome, observation with the aim of verification of patients with moderate and high risk of complications during chemotherapy followed by the oppointment of basic treatment. Issues related to risk factors, epidemiology, pathogenesis, classification and clinical manifestations of the syndrome itself are also considered.
Cervical cancer is one of the most common types of cancer. Human papillomavirus (HPV) infection i... more Cervical cancer is one of the most common types of cancer. Human papillomavirus (HPV) infection is a proven cause of cervical cancer, and there is growing evidence that oncogenic HPV types cause most cervical, penile, vulvar, vaginal, anal. Oropharyngeal cancers
and precancerous conditions, whereas non-oncogenic, low-risk HPV infection, causes genital warts and recurrent respiratory papillomatosis. New promising methods for detection and typing of HPV appear daily:
mass spectrometry genotyping of human papillomavirus based on nanomaterials high-efficiency selective enrichment, next-generation sequencing, CRISPR / Cas9, and others. Nevertheless, currently, quantitative PCR is still better than the newest methods because of the following advantages: it is relatively easy to use, there are many reliable, tested, and registered plans based on it, it is a relatively cheap method (inexpensive reagents and instruments), a large number of laboratories is equipped with instrumentation and trained personnel
for real-time PCR. It is all combined with the high sensitivity and specificity of this method.
G. S. Katinas (6 October 1925 – 4 September 2014), 2015