Hemophilia B Leyden: Literature and Our Data

Beskorovainaya, T. S.; Забненкова, В. В.; Зинченко, Р. А.; Щагина, О. А.; Polyakov, A. V.

doi:10.1134/s1022795421100033

Cited by 3 publications

(3 citation statements)

References 56 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Except for one child, all children diagnosed after the rst year of life had mild HB. The most common mutation was c.-17 A > G. It is reported that individuals carrying this mutation will experience an increase in FIX: C levels as they grow, which is consistent with our results except for one patient [9,38]. The presence of this point mutation interferes with the binding of C/EBPa to its proper site, and previous studies have con rmed that this factor plays a crucial role in regulating gene expression [39].…”

Section: Discussionsupporting

confidence: 90%

“…It is discovered that point mutations in the proximal promoter region which contains binding sites for hepatic nuclear factor 4α (HNF4α), one cut homebox (ONECUT1/2), and CCAAT enhancer-binding protein α (C/EBPα) cause HB Leyden [9]. Seventeen cases were identi ed in the current study.…”

Section: Discussionmentioning

confidence: 91%

“…This mutation causes severe FIX de ciency in childhood. There is a signi cant increase in FIX levels when a child reaches puberty, along with the resolution of bleeding symptoms [8,9].…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Genotype-phenotype analyses of Iranian patients with and without hemophilia B Leyden: A single-center study

Moghadam,

Manafzadeh,

Dajliry

et al. 2024

Preprint

View full text Add to dashboard Cite

Background There is a high prevalence of inherited bleeding disorders in Iran, such as hemophilia A (HA) and hemophilia B (HB). This study aimed to analyze the molecular and clinical profiles of patients with HB.Methods A single-center study was conducted among patients with severe HB between March 20, 2000, and June 31, 2023. The polymerase chain reaction (PCR) amplification was used for all of the major regions, such as the promoter, the exons, the adjacent intronic regions, and the untranslated regions of the F9 gene. Finally, Sanger sequencing was performed on the PCR products.Results A total of 111 HB patients (17 with HB Leyden and 94 without HB Leyden) were enrolled in this study. The median age of the patients at the time of diagnosis was 12 months (IQR: 6 months to 60 months). A family history of hemophilia was reported in 64 (57.7%) of patients. The most common bleeding manifestations were hemarthrosis, bruising, and oral cavity bleeding. Among 94 patients without HB Leyden, 59 (62.8%) had missense, 21 (22.3%) had nonsense, and 8 (8.5%) had frameshift mutations. Moreover, the most frequent mutation in HB Leyden was c.-17 A > G in this study. Finally, two novel mutations (c. -14 T > C and c. -56 T > A) were identified in the promotor region.Conclusion The results of this study confirm that HB is caused by a wide range of molecular defects in Iran. Thus, by knowing the genotypes and phenotypes, we would be able to stratify the patients which is important in terms of their management and outcome.

show abstract

Section: Discussionsupporting

confidence: 90%

Section: Discussionmentioning

confidence: 91%

See 1 more Smart Citation

Genotype-phenotype analyses of Iranian patients with and without hemophilia B Leyden: A single-center study

Moghadam,

Manafzadeh,

Dajliry

et al. 2024

Preprint

View full text Add to dashboard Cite

show abstract

Genotype-phenotype analyses of Iranian patients with hemophilia B (Leyden -) and hemophilia B (Leyden +): A single-center study

Moghadam,

Manafzadeh,

Dajliry

et al. 2024

Transfusion and Apheresis Science

View full text Add to dashboard Cite

Principle of signal-to-noise ratio direct measurement

Zenkovich

2024

jour

View full text Add to dashboard Cite

The sensitivity of radio receivers and other systems used in all fields of practical applications of electronics is carried out at certain signal-to-noise ratio value. Examples of systems, for which this ratio is one of the important qualitative indicators, are given. The aim of the investigation is to solve the actual problem of signal-to-noise ratio measurement in a wide range of frequencies, simplify instruments and improve their technical and metrological parameters. A principle of signal-to-noise ratio measurement has been proposed, its theoretical foundation has been given. Precise relationship between the signal-to-noise ratio and the parameters of noise amplitude, phase and frequency modulation has been established, thus modulation meters can measure signal-to-noise ratio. There are three options for implementing the developed measurement principle. All of them use one existing industrial modulation meter and provide direct signal-to-noise ratio. For two options there are no restrictions on the origin and type of noise, it may be arbitrary. A pilot test of the measurement principle was conducted, and three implementation options were actually tested. Their discrepancies with the original data of the signal and noise generator lie within error limits of the instrumentation of the former. Mathematical modeling of the principle of signal-to-noise ratio measurement in Mathcad software package was also carried out. Recommendations on the use of the principle are given. The fundamental advantages of the developed principle consist of simple implementation by a single industrial instrument and solving the problem of metrological ensuring of signal-to-noise measuring instruments using the existing state verification plans. The main technical and metrological characteristics obtained by using the principle are determined by parameters of existing modulation meters and are proven to be high, the frequency range is till 26,5 GHz and the measurement error is as low as 8 %.

show abstract

Hemophilia B Leyden: Literature and Our Data

Cited by 3 publications

References 56 publications

Genotype-phenotype analyses of Iranian patients with and without hemophilia B Leyden: A single-center study

Genotype-phenotype analyses of Iranian patients with and without hemophilia B Leyden: A single-center study

Genotype-phenotype analyses of Iranian patients with hemophilia B (Leyden -) and hemophilia B (Leyden +): A single-center study

Principle of signal-to-noise ratio direct measurement

Contact Info

Product

Resources

About