scholarly journals Diagnosis of familial hypercholesterolemia in children: cascade screening from theory to practice

2020 ◽  
Vol 19 (3) ◽  
pp. 2348
Author(s):  
L. F. Galimova ◽  
D. I. Sadykova ◽  
E. S. Slastnikova ◽  
N. E. Usova
Keyword(s):  
Familial Hypercholesterolemia ◽  
Cascade Screening ◽  
Clinical Hospital ◽  
Lipid Clinic ◽  
Targeted Screening ◽  
Adults And Children ◽  
The Republic ◽  
The City ◽  
Rule Out ◽  
Second Degree

Aim. To conduct a cascade screening and to assess its effectiveness in the diagnosis of familial hypercholesterolemia (FH) in children.Material and methods. The study was conducted from January 2017 to August 2018 on the basis of the City Clinical Hospital № 7 and the Children’s Republican Clinical Hospital (Kazan, the Republic of Tatarstan). It consisted of identifying index cases — primary patients with FH with further examination of first- and second-degree relatives <18 years old. In adults, the diagnosis was established according to Dutch Lipid Clinic Network (DLCN) criteria): FH was diagnosed with a score of ≥6. In children and adolescents <6 years of age, the Simon Broome Registry criteria were used.Results. During this period, 2542 case histories of patients with cardiovascular diseases were analyzed, of which 1220 people with a total cholesterol >5 mmol/L were selected. Next, a targeted screening was carried out aimed at the diagnosis of FH, as a result of which 61 index patients were identified. At the next stage, as a part of cascade screening, 87 first- and second-degree relatives <18 years old were examined. In 43 (49,4%) children, heterozygous HF was diagnosed, of which in 4 patients the disease was detected by re-examination after 1 year.Conclusion. Cascade screening is a necessary and effective method for the diagnosis of АР in first- and second-degree relatives <18 years old. All children of the index patients should be monitored or genetic testing necessary to rule out FH. Today, it is important to increase awareness among clinicians about the diagnosis of FH in adults and children.

scholarly journals Improving Familial Hypercholesterolemia Index Case Detection: Sequential Active Screening from Centralized Analytical Data

2021 ◽  
Vol 10 (4) ◽  
pp. 749
Author(s):  
Fernando Sabatel-Pérez ◽  
Joaquín Sánchez-Prieto ◽  
Víctor Manuel Becerra-Muñoz ◽  
Juan Horacio Alonso-Briales ◽  
Pedro Mata ◽  
...  
Keyword(s):  
Familial Hypercholesterolemia ◽  
Diagnostic Yield ◽  
Low Density Lipoprotein ◽  
Analytical Data ◽  
Genetic Diagnosis ◽  
Density Lipoprotein ◽  
Screening Strategy ◽  
Cascade Screening ◽  
Active Screening ◽  
Lipid Clinic

The majority of familial hypercholesterolemia index cases (FH-IC) remain underdiagnosed and undertreated because there are no well-defined strategies for the universal detection of FH. The aim of this study was to evaluate the diagnostic yield of an active screening for FH-IC based on centralized analytical data. From 2016 to 2019, a clinical screening of FH was performed on 469 subjects with severe hypercholesterolemia (low-density lipoprotein cholesterol ≥220 mg/dL), applying the Dutch Lipid Clinic Network (DLCN) criteria. All patients with a DLCN ≥ 6 were genetically tested, as were 10 patients with a DLCN of 3–5 points to compare the diagnostic yield between the two groups. FH was genetically confirmed in 57 of the 84 patients with DLCN ≥ 6, with a genetic diagnosis rate of 67.9% and an overall prevalence of 12.2% (95% confidence interval: 9.3% to 15.5%). Before inclusion in the study, only 36.8% (n = 21) of the patients with the FH mutation had been clinically diagnosed with FH; after genetic screening, FH detection increased 2.3-fold (p < 0.001). The sequential, active screening strategy for FH-IC increases the diagnostic yield for FH with a rational use of the available resources, which may facilitate the implementation of FH universal and family-based cascade screening strategies.

scholarly journals Children’s republican clinical hospital - a 40-year-long path in the history of pediatric healthcare in Tatarstan

2017 ◽  
Vol 98 (3) ◽  
pp. 468-475
Author(s):  
S A Valiullina ◽  
L A Doronina
Keyword(s):  
Hospital Staff ◽  
High Tech ◽  
Clinical Hospital ◽  
Chief Physician ◽  
History Of ◽  
The Republic ◽  
Pediatric Healthcare ◽  
The City ◽  
Modern Technologies

Children’s republican clinical hospital of the Republic of Tatarstan has undergone a forty-year-long path in its development. Today it is a modern medical institution uniting a high-tech hospital, an emergency hospital and an organizational and methodological center. It is also a coordinator of pediatric healthcare in Tatarstan. However, it all began with the Government’s decision to build a modern pediatric republican center on the outskirts of the city. The article describes in detail how the hospital was built, how surgical and pediatric services were created and developed, how the staff was trained, how modern technologies were introduced, how the hospital was modernized to solve strategic tasks, what role the Departments of pediatrics and pediatric surgery have played and still play. History is made by people, so the article contains the detailed description of formation of the hospital staff and reflects the role of its first Chief physician E.V. Karpukhin who took an active part in hospital’s construction, in creation of its services and headed this hospital for 33 years. The efforts of the large team have made the Children’s republican clinical hospital one of the best among children’s hospitals in Russia.

scholarly journals Turning of the uterine appendices in children

2020 ◽  
Vol 10 (1) ◽  
pp. 69-74
Author(s):  
Nikolay A. Okunev ◽  
Alexandra I. Okuneva ◽  
Elena G. Begoulova ◽  
Svetlana V. Kuptsova ◽  
Anna V. Kotelnikova ◽  
...  
Keyword(s):  
Emergency Room ◽  
Diagnostic Criteria ◽  
Conservative Management ◽  
Clinical Picture ◽  
Rural Areas ◽  
Positive Symptom ◽  
Clinical Hospital ◽  
The Republic ◽  
The Right ◽  
The City

Purpose. To analyze the clinical picture of the disease, diagnostic criteria and treatment tactics for girls with torsion of the uterus for 20162018 in the Childrens Republican Clinical Hospital in Saransk. Materials and methods of the research: the study included 16 girls who were examined and treated at the state budgetary health institution of the Republic of Mordovia, the Saransk Childrens Republican Clinical Hospital. Results. The largest number of torsions was found in patients aged 8 to 12 years. In 69% of cases, girls with this pathology lived in the city, 31% in rural areas. In the first 12 hours from the onset of the disease, most patients, namely 9 patients who were worried about nausea, vomiting, fever, pain on the side of the lesion, came to the emergency room. On examination, 5 patients showed a positive symptom of peritoneal irritation, in 2 it was doubtful, and in 6 negative. During the diagnosis, it was revealed that the right appendage is affected more often than the left. The possibility of preserving obviously unviable uterine appendages on the basis of ultrasound and intraoperative data is described, as well as further tactics of conservative management of girls with torsions are presented. Conclusion. Removal of the uterine appendages was performed in cases of congenital torsions with necrosis, torsions with anomalies of development and necrosis of the appendages, as well as with a duration of torsion and necrosis of more than 5 days. In other cases, even with severe signs of malnutrition, organ-preserving operations were performed

Referral Patterns and Cascade Screening for Familial Hypercholesterolemia in a Pediatric Lipid Clinic

2016 ◽  
Vol 178 ◽  
pp. 285-287 ◽  
Author(s):  
Hilary Stempel ◽  
Ann Dodge ◽  
Erin Marriott ◽  
Amy L. Peterson
Keyword(s):  
Familial Hypercholesterolemia ◽  
Cascade Screening ◽  
Referral Patterns ◽  
Lipid Clinic

scholarly journals Familial Hypercholesterolemia (FH) in Iran: Findings from the Four-Year FH Registry

2021 ◽  
Vol 2021 ◽  
pp. 1-6
Author(s):  
Golnaz Vaseghi ◽  
Marzieh Taheri ◽  
Kiyan Heshmat-Ghahdarijani ◽  
Mohammad Rayati ◽  
Sonia Zarfeshani ◽  
...  
Keyword(s):  
Cardiovascular Disease ◽  
Familial Hypercholesterolemia ◽  
Low Density Lipoprotein ◽  
Density Lipoprotein ◽  
Degree Relative ◽  
Cascade Screening ◽  
Lipid Clinic ◽  
Premature Cardiovascular Disease ◽  
Dominant Disease ◽  
Laboratory Group

Background. Familial hypercholesterolemia (FH) is a common autosomal dominant disease. Its diagnosis in Iran was uncommon. Iran registry of FH (IRFH) has been started from 2017 from Isfahan. In this study, we report the four-year FH registry. Methods. The Iran FH registry is an ongoing study which is followed by a dynamic cohort. It has been started from 2017. The patients are selected from laboratories due to high cholesterol level and who have history of premature cardiovascular disease. The Dutch Lipid Clinic Network (DLCN) criteria are used for the detection of FH. Cascade screening is performed for detection of first-degree relative of patients. Results. Among the 997 individuals included in this registry, they were 522 (mean age 51.41 ± 12.91 year), 141 (mean age 51.66 ± 8.3 year), and 129 (mean age 41 ± 16.5 year) patients from laboratories, premature cardiovascular disease, and relatives, respectively. In total, 263 patients were diagnosed with probable or definite FH, and others were in the possible group. Low-density lipoprotein cholesterol (LDL) level was 141.42 ± 45.27   mg / dl in the laboratory group and 54.9% of patients were on LLT treatment. In patients with premature cardiovascular disease and FH, the LDL level was 91.93 ± 32.58 and was on LLT treatment. The LDL concentration in the first relative of FH patients was 152.88 ± 70.77 and 45.7% of them are on LLT therapy. Conclusions. Most of FH patients were underdiagnosed and undertreated before their inclusion in the IRFH. Cascade screening helps in the improvement of diagnosis.

Hygienic assessment of learning environment conditions (by the example of higher educational institutions of the city of Ufa)

2020 ◽  
Vol 99 (4) ◽  
pp. 405-411
Author(s):  
Elena Ju. Gorbatkova
Keyword(s):  
Ionizing Radiation ◽  
Educational Institutions ◽  
Higher Educational Institutions ◽  
Factors Affecting ◽  
Republic Of Bashkortostan ◽  
Average Relative Humidity ◽  
Higher Educational ◽  
The Republic ◽  
And Performance ◽  
The City

Introduction. The important factors affecting health and performance of young people are the conditions of education, in particular, a comfortable microclimate in the classrooms of higher educational institutions. Materials and methods. In view of the urgency of this problem, an analysis was made of the microclimate parameters of educational organizations of different profiles (Ufa city, the Republic of Bashkortostan). 294 classrooms were studied in 22 buildings of 4 leading universities in Ufa. A total of 3,822 measurements were taken to determine the parameters of the microclimate. The analysis of ionizing radiation in the aerial environment of classrooms. There was performed determination of radon and its affiliated products content. In order to assess the conditions and lifestyle of students of 4 higher educational institutions of the city of Ufa, we conducted an anonymous survey of 1,820 students of I and IV years of education. Results. The average temperature in the classrooms of all universities studied was 23.9±0.09 C. The average relative humidity in all classrooms was 34.2 ± 0.42%. Analysis of ionizing radiation (radon and its daughter products decay) in the aerial environment of the classrooms and sports halls located in the basement determined that the average annual equivalent equilibrium volumetric activity of the radon daughter products (EROA ± Δ222Rn) ranged from 28 ± 14 to 69 ± 34.5 meter, which meets the requirements established by SanPiN. Conclusion. The hygienic assessment of the microclimate parameters of educational institutions of various profile revealed a number of deviations from the regulated norms. The results indicate the need to control the parameters of the microclimate, both from the administration of universities, and from the professors. According to the results of the study, recommendations were prepared for the management of higher educational institutions in Ufa.

Indicators of permanent teeth eruption in children of Tashkent city and comparative assessment with the data of peers of different Russian cities

2020 ◽  
Vol 20 (3) ◽  
pp. 223-229
Author(s):  
R. T. Kamilova ◽  
J. A. Kamilov
Keyword(s):  
Comparative Assessment ◽  
Permanent Dentition ◽  
Permanent Teeth ◽  
Age And Gender ◽  
Left Handed ◽  
Regional Features ◽  
Initial Stage ◽  
The Republic ◽  
And Gender ◽  
The City

Relevance. Characteristics of eruption of secondary teeth is of diagnostic and prognostic interest, is the basis for implementation of targeted therapeutic and preventive measures among children. No research has ever been carried out in Uzbekistan to study an age and gender regional features of secondary teeth eruption. The aim is to determine the timing and symmetry of secondary teeth eruption in children of the city of Tashkent of the Republic of Uzbekistan and comparative assessment with the children of different cities of Russia.Materials and methods. 3,834 children between 3 and 17 years were conducted dental examination. A comparative analysis was made of the initial, intermediate and final periods of eruption of secondary teeth for children of Uzbekistan (Tashkent city) and Russia (Saratov, Izhevsk and Sergach).Results. In Tashkent children of both gender, in most cases, lower teeth were erupted before than their antagonists. In girls, teeth were erupted earlier than their male counterparts. At the initial stage of eruption, asymmetry was more pronounced in boys than in girls, while in the middle and final stages it was more pronounced in the opposite direction. Observed asymmetry of antimere’s teeth were indicated left-handed permanent dentition in boys and right-handed in girls. Children of Tashkent city were observed permanent dentition in one group of teeth 1-16 months earlier, and in others – 1-24 months later than their peers in Russian cities. Revealed differences were more pronounced among boys than among girls. Children in Tashkent differed more from their peers in Sergach and less from those in Izhevsk. Conclusions. Regional peculiarities of permanent dentition in children of Tashkent city and revealed expressed differences with indicators of Russian children are the basis for development of separate age and  gender normative assessment permanent dentition tables for children of Uzbekistan. 

Population-Based Screening in Children For Early Diagnosis and Treatment of Familial Hypercholesterolemia: Design of The VRONI Study

2021 ◽  
Author(s):  
Veronika Sanin ◽  
Raphael Schmieder ◽  
Sara Ates ◽  
Lea Dewi Schlieben ◽  
Jens Wiehler ◽  
...  
Keyword(s):  
Familial Hypercholesterolemia ◽  
Screening Program ◽  
Molecular Genetic ◽  
Population Based ◽  
Molecular Genetic Analysis ◽  
Cascade Screening ◽  
Screening Programs ◽  
Pathogenic Variants ◽  
Risk Indices ◽  
Training Courses

Abstract Background: Heterozygous Familial Hypercholesterolemia (FH) represents the most frequent monogenic disorder with an estimated prevalence of 1:250 in the general population. Diagnosis during childhood enables early initiation of preventive measures, reducing the risk of severe consecutive atherosclerotic manifestations. Nevertheless, population-based screening programs for FH are scarce.Methods: In the VRONI study children aged 5 to 14 years in Bavaria are invited to participate in a FH screening program during regular pediatric visits. The screening is based on LDL-C measurements from capillary blood. If exceeding 130 mg/dl (3.34 mmol/l), i.e. the expected 95th percentile in this age group, subsequent molecular genetic analysis for FH is performed. Children with FH pathogenic variants enter a registry and are treated by specialized pediatricians. Furthermore, qualified training centers offer FH-focused training courses to affected families. For first degree relatives, reverse cascade screening is recommended to identify and treat affected family members.Results: Implementation of VRONI required intensive prearrangements for addressing ethical, educational, data-safety, legal and organisational aspects, which will be outlined in this paper. Recruitment started in January of 2021, within two months more than 280 pediatricians screened over 1,150 children. Approximately 60,000 children are expected to be enrolled in the VRONI study until 2024. Conclusion: VRONI aims to test the feasibility of a population-based screening for FH in children in Bavaria, intending to set the stage for a nation-wide FH screening infrastructure. Further we aim to validate genetic variants of unclear significance, detect novel causative mutations, and contribute to polygenic risk indices. (German Clinical Trials Register: DRKS00022140; registered August 21st2020.)

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