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.
Background.
Familial hypercholesterolemia (FH) is the genetic disease characterized by an increase in the levels of total cholesterol and low density lipoproteins since childhood.
The aim of the ...study
was to assess arterial stiffness in children with heterozygous FH by measuring pulse wave velocity (PWV) in the aorta.
Design
and methods.
The study involved 118 children. Of these, 60 healthy children were in the control group and 58 children with the diagnosis of heterozygous FH were included in the main group. Both groups were divided into 3 age subgroups: from 5 to 7 years old, from 8 to 12 years old and from 13 to 17 years old. The diagnosis of FH was made according to the British criteria by Simon Broome. The lipid profile was determined for all children, blood pressure was monitored daily with the estimate of the minimum, average and maximum PWV (PWVmin, PWVav, PWVmax) in aorta using oscillometric method.
Results.
In the younger age subgroup (5–7 years), there were no significant differences in PWV between main and control groups. In children aged 8–12 years, the main group was characterized by significantly higher values of maximum PWV compared to healthy peers — 5,1 4,7–5,8 and 4,6 4,45–5,05 m/s, respectively (p = 0,041). In group of children with FH aged 13–17 years, compared to the control group, a significant increase in the minimum PWV was observed — 4,7 4,1–5,1 and 3,9 3,5–4,1 m/s, respectively (p = 0,009), average PWV — 5,5 4,8–6,4 and 4,5 4,2–4,9 m/s, respectively (p = 0,009), and maximum PWV — 6,2 5,7–7,55 and 5,4 5,05–5,6 m/s, respectively (p = 0,007). Correlation analysis in patients with FH showed direct correlation between PWVmin, PWVav and PWVmax with total cholesterol (r = 0,46, r = 0,46 and r = 0,464, respectively, p < 0,001).
Conclusions.
Our study demonstrates an increase in the PWV in the aorta in children with FH compared with healthy peers from 8–12 years of age. There is a further progression of arterial stiffness with an increase in the minimum, average and maximum PWV most significant in the group of 13–17 years.
Ethylene ketal of the Michael adduct of levoglucosenone and 2-(ethoxycarbonyl)cyclo-dodecanone brominated with the system Br
2
—CCl
4
in CHCl
3
gave three types of products, namely, mono- and dibromo ...derivatives, as well as deprotected bromo diketone. The bromination occurred in the levoglucosenone moiety and in the cyclododecanone fragment, with the ketal protection being partially removed. Reductive debromination of difficult-to-separate di- and monobromo derivatives under the action of Zn—Bu
4
NI in EtOAc—EtOH and ultrasound led to the opening of the protective group dioxolane ring to give the corresponding enol ether. Treatment of the mixture of di- and monobromo derivatives with the system NaOH—EtOH or NaHCO
3
—DMSO triggered a stereoselective intramolecular cyclization to result in the cyclopropane and tetrahydrofuran derivatives, respectively.
Aim
of the study was to evaluate the antiradical and immunomodulatory effects of gynecological capsules (ovules) developed for the complex treatment of diseases of the female reproductive system.
...Material and methods
. Antiradical activity of gynecological capsules (ovuli) was evaluated in cell-free model systems by the ability to suppress the hyperproduction of free radical agents caused by the introduction of iron sulfate. Immunomodulatory activity was determined in the whole blood by their effect on the ability of phagocytic cells to generate reactive oxygen species.
Results.
In cell-free model systems, the studied drug composition suppressed the activation of free radical oxidative processes induced by the iron sulfate, while at the same time enhancing the production of reactive oxygen species by leukocytes.
Conclusions.
The results obtained may indicate that the developed gynecological capsules have antiradical and immunomodulatory activity, which allows us to consider them as a promising tool for the treatment of diseases of the female reproductive system.
4-(2-hydroxy-2-methylpropan-2-yl) derivative of levoglucosenone was synthesized and subjected to dehydration and enzymatic reduction to unsaturated (2
S
)-hydroxy derivative. The latter was found to ...exhibit fungicidal activity against the microscopic fungus
Rhizoctonia solani
, which is similar to the activity of L-menthone.
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