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  • 1
    In: Pediatric pharmacology, Paediatrician Publishers LLC, Vol. 20, No. 4 ( 2023-08-22), p. 337-354
    Abstract: Lysosomal acid lipase deficiency is s a rare hereditary enzymopathy. The article presents epidemiological data and features of etiopathogenesis of two phenotypic forms of lysosomal acid lipase deficiency — Wolman disease and cholesterol ester storage disease. Special attention has been given to the key issues of differential diagnostic search, clinical guidelines based on the principles of evidence-based medicine have been given.
    Type of Medium: Online Resource
    ISSN: 2500-3089 , 1727-5776
    Language: Unknown
    Publisher: Paediatrician Publishers LLC
    Publication Date: 2023
    detail.hit.zdb_id: 3072851-4
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  • 2
    In: JIMD Reports, Wiley, Vol. 53, No. 1 ( 2020-05), p. 39-44
    Abstract: Glycogen storage disease type 0 (GSD 0) is an autosomal recessive disorder of glycogen metabolism caused by mutations in the GYS2 gene manifesting in infancy or early childhood and characterized by ketotic hypoglycemia after prolonged fasting, and postprandial hyperglycemia and hyperlactatemia. GSD 0 is a rare form of hepatic glycogen storage disease with less than 30 reported patients in the literature so far. DNA samples of 93 Russian patients with clinical diagnoses of hepatic GSDs were collected and analyzed by next‐generation sequencing custom target panel and by direct sequencing. Seven new GSD 0 patients with variable phenotypes were found showing 10 variants. Seven variants are novel. We present seven new GSD 0 patients with variable phenotypes. Overall, 10 different mutant alleles of the GYS2 gene were found. Seven of them are novel: c.214delC, c.845delT, c.1644C 〉 A, c.205T 〉 A, c.929G 〉 T, c.1169G 〉 C and c.1703C 〉 A. Three of the novel variants were annotated as pathogenic and likely pathogenic; four other variants have an uncertain significance. The current results expand the spectrum of known mutations in GYS2 and suggest that phenotypes of GSD 0 are more variable and less specific than the reported ones. Synopsis Seven new patients with glycogen storage disease type 0 were found using next‐generation sequencing and seven novel variants of GYS2 gene were annotated.
    Type of Medium: Online Resource
    ISSN: 2192-8312 , 2192-8312
    URL: Issue
    Language: English
    Publisher: Wiley
    Publication Date: 2020
    detail.hit.zdb_id: 2672872-2
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  • 3
    In: Genes, MDPI AG, Vol. 13, No. 6 ( 2022-06-14), p. 1062-
    Abstract: Background: Hypertriglyceridemia (HTG) is one of the most common forms of lipid metabolism disorders. The leading clinical manifestations are pancreatitis, atherosclerotic vascular lesions, and the formation of eruptive xanthomas. The most severe type of HTG is primary (or hereditary) hypertriglyceridemia, linked to pathogenic genetic variants in LPL, APOC2, LMF1, and APOA5 genes. Case: We present a clinical case of severe primary hypertriglyceridemia (TG level 〉 55 mmol/L in a 4-year-old boy) in a consanguineous family. The disease developed due to a previously undescribed homozygous deletion in the APOA5 gene (NM_052968: c.579_592delATACGCCGAGAGCC p.Tyr194Gly*68). We also evaluate the clinical significance of a genetic variant in the LPL gene (NM_000237.2: c.106G 〉 A (rs1801177) p.Asp36Asn), which was previously described as a polymorphism. In one family, we also present a different clinical significance even in heterozygous carriers: from hypertriglyceridemia to normotriglyceridemia. We provide evidence that this heterogeneity has developed due to polymorphism in the LPL gene, which plays the role of an additional trigger. Conclusions: The homozygous deletion of the APOA5 gene is responsible for the severe hypertriglyceridemia, and another SNP in the LPL gene worsens the course of the disease.
    Type of Medium: Online Resource
    ISSN: 2073-4425
    Language: English
    Publisher: MDPI AG
    Publication Date: 2022
    detail.hit.zdb_id: 2527218-4
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  • 4
    In: Terapevticheskii arkhiv, Consilium Medicum, Vol. 93, No. 8 ( 2021-08-15), p. 916-922
    Abstract: Aim. To study the efficacy and safety of a two-week bismuth-based quadruple of Helicobacter pylori (Hp) infection with the inclusion of a probiotic Bifiform. Materials and methods. An open prospective comparative randomized study included 68 Hp-positive patients: 22 with a confirmed diagnosis of peptic ulcer disease, 46 with chronic gastritis, gastroduodenitis and erosions in the pylorobulbar zone. The diagnosis and Hp infection were verified by the results of endoscopic and morphological studies, as well as using the 13C-urease breath test and determination of the Hp antigen in the feces. Depending on the therapy, the patients were randomized into 2 groups: the main group was taken 2 times a day for 14 days omeprazole 20 mg + amoxicillin 1000 mg + clarithromycin 500 mg + bismuth tripotassium dicitrate 240 mg + Bifiform 2 capsules 2 times a day; control similar therapy was carried out, but without the inclusion of Bifiform. Repeated testing for Нр was carried out one month after the termination of the course of treatment. Results. When using bismuth-containing quadruple, a high frequency of Hp eradication was noted, which in the ITT analysis was 86.1 and 68.8% (p0.05) and in the PP analysis it was 93.9 and 95.7% (p0.05) in patients of the main and control groups, respectively. Side effects of drug therapy were detected in 16.7 and 43.8% (p0.05), which was the reason for the early termination of therapy as a result of their development in 5.6 and 28% (p0.05) in patients of the main and control groups, respectively. The inclusion of the probiotic Bifiform in the eradication triple therapy of Hp infection reduced the frequency of detection of colonic dysbiosis from 27.8 to 3.6% and had a positive effect on the indices of local immunity (increased content of plasma cells in the inflammatory infiltrate and a stable level of secretory immunoglobulin A in coprofiltrate). Conclusion. A prospective, comparative, randomized study has shown that when using a two-week bismuth-based quadruple the eradication rate exceeds 90%. The inclusion of Bifiform in the eradication scheme dramatically reduces the frequency of adverse events and increases patient compliance, and also maintains the protective factors of the gastrointestinal mucosa at a higher level.
    Type of Medium: Online Resource
    ISSN: 2309-5342 , 0040-3660
    Language: Unknown
    Publisher: Consilium Medicum
    Publication Date: 2021
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  • 5
    In: Terapevticheskii arkhiv, Consilium Medicum, Vol. 94, No. 2 ( 2022-02-15), p. 180-187
    Abstract: Background. In the treatment of post-infectious irritable bowel syndrome (PI-IBS), the leading role belongs to the normalization of the composition of the intestinal microbiome, the disturbances of which are associated with previous intestinal infections. Aim. To study the effectiveness of the drug Bifiform in the treatment of PI-IBS. Materials and methods. An open, prospective, comparative, randomized study included 62 patients with PI-IBS. The diagnosis was confirmed by the results of clinical, laboratory and endoscopic examination of the intestine and met the diagnostic criteria for IBS of the Rome Consensus IV. The patients were randomized into 2 groups depending on the therapy. The patients of the main group received an antispasmodic drug (mebeverin 200 mg 2 times a day or trimebutin 200 mg 3 times a day for 4 weeks), an antibiotic (rifaximin 400 mg 3 times a day or nifuroxazide 400 mg 2 once a day for 1 week), a drug that normalizes the consistency of feces (dioctahedral smectite or macrogol 4000) and Bifiform 2 capsules 2 times a day for 2 weeks. For patients of control group similar therapy was performed without the Bifiform. Evaluation of the effectiveness of treatment was carried out at the end of the course of therapy and 6 months after its termination. Results. All included patients with PI-IBS had abdominal pain, flatulence and tenderness to palpation along the bowel, most of them had diarrhea. Disorders of the intestinal microbiota were detected in 77.4% of patients, while excessive bacterial growth in the small intestine occurred in 72.6%, disorders of the colon microbiocenosis with the presence of opportunistic bacteria in 62.9% of patients. A significant part of the patients had a combination of small and large intestinal dysbiosis. Histological examination of the colon mucosa showed signs of low degree of inflammation activity in all patients. The moderate increase in the level of fecal calprotectin was found in 62.2% of patients with colonic dysbiosis. The majority of patients in the main group showed a pronounced positive dynamics of clinical manifestations of the disease, restoration of the normal composition of the intestinal microbiota and normalization of the content of fecal calprotectin at the end of the course therapy. The good result was observed much more often in the main group at the end of the course of treatment and 6 months after its termination. Conclusion. The inclusion of Bifiform in the complex therapy of PI-IBS significantly increases its effectiveness both in arresting the clinical manifestations of the disease, and in restoring the normal composition of the intestinal microbiome and reducing the inflammatory process in the intestinal mucosa. In the majority of patients receiving Bifiform, the remission of the disease achieved at the end of the course of treatment and persisted even 6 months after its termination.
    Type of Medium: Online Resource
    ISSN: 2309-5342 , 0040-3660
    Language: Unknown
    Publisher: Consilium Medicum
    Publication Date: 2022
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