214 Cystic fibrosis and cirrhosis in Russia

Kondratyeva, E.I.; Kapranov, N.; Kashirskaya, N.; Sherman, V.D.; Belmer, V.

doi:10.1016/s1569-1993(15)30390-8

Cited by 8 publications

(24 citation statements)

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“…Chronic lower respiratory tract infection is a key symptom in CF patients [ 1 , 2 ], and is a leading factor in determining the severity and prognosis of the disease. When studying the microflora of the lower respiratory tract in different age groups of CF children, researchers from different countries found that the main pathogens of lung infection in CF patients are Pseudomonas aeruginosa , Staphylococcus aureus , and Haemophilus influenzae.…”

Section: Discussionmentioning

confidence: 99%

“…The diagnosis of CF was proven by typical pulmonary or gastrointestinal symptoms or positive neonatal screening, or the diagnosis of CF in a sibling, as well as at least one of the following: two positive chloride sweat tests, or the identification of two CFTR pathologic variants in trans [ 2 , 6 ].…”

Section: Methodsmentioning

confidence: 99%

“…Initially, we examined the 34 most common CFTR variants utilized for the diagnosis of CF within the multiethnic RF, which account for over 85% of all CF-causing variants [ 1 ]. In-house molecular genetic methods that have been previously described [ 2 ], including amplified fragment length (AFLP) and restriction fragment length (RFLP) polymorphism techniques, were utilized to detect insertion/deletion variants and nucleotide substitutions, respectively. For the cases when one or both CFTR pathogenic variants remained unidentified, we carried out direct Sanger DNA sequencing of the entire CFTR coding region, including adjacent splice sites and the 3′-untranslated CFTR region [ 2 ].…”

Section: Methodsmentioning

confidence: 99%

“…As a result of pathogenic variants of the CFTR gene (cystic fibrosis transmembrane conductance regulator), the protein that acts as the chloride channel in the body does not function, or its function is disordered in such a way that the viscosity of all of the secretions of the exocrine glands increase significantly, primarily secretions of bronchial mucus, the paranasal sinuses, the pancreas, and the liver. Hence, there is diversity in the disease’s clinical presentation, thus defining the polyorganic nature of the disease [ 1 , 2 ]. The degree of protein function disorder is determined by the type of gene pathogenic variant.…”

Section: Introductionmentioning

confidence: 99%

“…Before the era of newborn screening, the diagnosis of CF was primarily based on clinical symptoms, such as the combination of respiratory and gastro-intestinal syndromes together with a delay in physical development. Thanks to the introduction of newborn screening, the diagnosis of CF can and should be established in the first months of life [ 2 , 6 , 7 , 8 ]. The detection of CF at the preclinical stage is the main goal of the newborn screening program, as it allows for the prescription of adequate basic therapy after an integrated assessment of the child’s condition, thereby preventing or delaying the development of complications.…”

Section: Introductionmentioning

confidence: 99%

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Newborn Screening for Cystic Fibrosis in Russia: A Catalyst for Improved Care

Шерман

Kondratyeva

Kashirskaya

et al. 2020

IJNS

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In order to assess the effectiveness of the detection of cystic fibrosis (CF) patients by screening compared with diagnoses based on clinical manifestations, the data of the National CF Patient Registry (NCFPR) from the year 2012 (group I: children aged 6–9 years, diagnosed prior to the start of screening) were compared with the data in the NCFPR from the year 2015 (group II: children 6–9 years after the start of screening) for CF patients from the Moscow region. Homozygotes for c.1521_1523delCTT (F508del) were separately compared in both groups. The average diagnosis age, genotype, body mass index, spirometry data, pulmonary infection, medications, and presence of complications were analyzed. This study demonstrated that in the c.1521_1523delCTT (F508del) homozygote group, the patients diagnosed by screening had significant advantages over the patients born before the start of newborn screening in the diagnosis age, the number of patients with chronic Pseudomonas aeruginosa infection, the pulmonary function, and the growth in the percentiles. Newborn screening (NBS) detects nearly twice as many CF patients as the diagnostics based on clinical symptoms during the same time period. Importantly, patients will benefit from the early diagnosis of the disease and the early start of therapy.

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Section: Discussionmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Newborn Screening for Cystic Fibrosis in Russia: A Catalyst for Improved Care

Шерман

Kondratyeva

Kashirskaya

et al. 2020

IJNS

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Ribosomal, Satellite III (1q12) and Telomere Repeat Copy Number Variations in Cystic Fibrosis Patients Used as a Model of Permanent Stress and Survivability

Ershova,

Kondratyeva,

Porokhovnik

et al. 2024

Preprint

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Introduction: Ribosomal (rDNA), satellite III (f-SatIII) and telomere (TR) tandem repeats perform a variety of functions in the human cell. Copy number variations (CNVs) of these repeats contributes to the global chromatin architecture and genome expression changes in response to stress or pathology. An elevated rDNA abundance and lowered contents of f-SatIII and TR were found in blood leukocytes of patients with schizophrenia. The main question of the study was: are the CNVs of the three repeat types in blood leukocytes a universal phenomenon linked to a pathology associated with chronic oxidative stress? Cystic fibrosis (CF), a monogenic disease was chosen as an object of the study. Materials and Methods: We determined the rDNA, f-SatIII and TR content in the blood leukocyte genomes of 545 subjects aged 0.2 to 50 years. The subjects were divided into three groups: Control (HC-group, N = 267), CF group (N= 186) and CF(d) group (severe patients, who died after some time upon sampling, aged 17 to 40 years, N = 92). For each patient, the type of the mutation in CFTR gene had been determined earlier. Non-radioactive quantitative hybridization technique was applied to quantify the repeats. Results: the rDNA abundance was elevated in the DNA of CF and CF(d) groups (565+/-105 copies per genome, N=278) compared to HC group (445+/-112 copies, N=267). A patient's age 3 to 16 years was associated with "severe" mutations in CFTR (98% of cases), increased f-SatIII repeat counts and decreased telomere repeat (TR) contents in genome DNA compared to the age-matched controls. The genomes of deceased patients from CF(d) group also harbored increased numbers of f-SatIII and decreased numbers of TR. Patients above 16 years with a milder course of the disease and relatively low content of "severe" CFTR mutations contained less f-SatIII and more TR in their genomic DNA. A parameter rDNA*(f-SatIII/TR) showed a maximum difference between patients with relatively mild (age 17 to 40) and severe (age 17 to 40) forms of the pathology according to ROC analysis data (AUC = 0.86). Conclusion: Cystic fibrosis was associated with an increase in rDNA abundance and altered f-SatIII and TR contents in the DNA of cases compared to the controls. The severe course of the disease was characterized with high f-SatIII contents and shortened telomeres, whereas mild CF cases were associated with low contents of f-SatIII and normal or slightly reduced telomere length. The index rDNA*(f-SatIII/TR) might be a predictor of the patient's life expectancy.

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Enteral formulas for nutritional support of patients with cystic fibrosis

Maksimycheva,

Krysanov,

Kurkin

et al. 2024

APPS

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Cystic fibrosis (CF) is a hereditary disease characterized by impaired functioning of the glands of external secretion, the phenomena of maldigestion, malabsorption, chronic inflammation in the bronchopulmonary system, which negatively affects the nutritional status. Among patients with CF, regardless of age, there is a high prevalence of malnutrition, which has a multifactorial nature and leads to somatic and psychological consequences, significantly worsens the course and prognosis of the disease, and reduces the quality of life. The high-risk group consists of adolescent children due to the increased energy needs of the body during this period and the progression of the severity of the disease with age. A good nutritional status (NS) is an important parameter for successful control of the CF flow. General dietary recommendations for CF include an increased energy value of food (up to 200% of the target values of kca /day for healthy individuals) while taking pancreatic enzymes. An increased intake of protein, fat, salt, and fat-soluble vitamins is recommended. Important nutritional factors are polyunsaturated fatty acids, fiber, pre-probiotics, trace elements, and antioxidants. It is necessary to take preventive measures to prevent the development of malnutrition and timely correct existing deficiencies, taking into account the individual characteristics of the patient. For this purpose, specialized therapeutic nutrition is used. A wide range of such products in the form of ready-made (drinks, yoghurts, creamy products) or dry mixes to increase the energy and biological value of the actual diet is the best option for correcting the nutritional needs of patients with CF. They have proven clinical efficacy and safety, are well absorbed and tolerated, convenient and easy to use for patients, which significantly increases compliance and improves the result of treatment. The available assortment allows you to choose a personalized approach to each patient, taking into account the general condition, age, existing complications, and associated diseases. The review highlights the causes of nutritional deficiency, changes in approaches to diet therapy against the background of targeted therapy, enteral nutrition products recommended for patients with MV in the territory of the Russian Federation and indications for their appointment.

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214 Cystic fibrosis and cirrhosis in Russia

Cited by 8 publications

References 0 publications

Newborn Screening for Cystic Fibrosis in Russia: A Catalyst for Improved Care

Newborn Screening for Cystic Fibrosis in Russia: A Catalyst for Improved Care

Ribosomal, Satellite III (1q12) and Telomere Repeat Copy Number Variations in Cystic Fibrosis Patients Used as a Model of Permanent Stress and Survivability

Enteral formulas for nutritional support of patients with cystic fibrosis

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