Podłoże genetyczne i diagnostyka nefropatii IgA

Nefropatia IgA należy do najczęściej występujących pierwotnych chorób kłębuszków nerkowych. W Europie stanowi do 30% wszystkich pierwotnych glomerulopatii. Chorobę Bergera cechuje różne tempo rozwoju; w niektórych przypadkach doprowadza ona do skrajnej niewydolności nerek. Nefropatia IgA ma podłoże wieloczynnikowe, pewną rolę w jej powstawaniu przypisuje się różnym genom. Obecnie do ustalenia rozpoznania konieczne jest wykonanie badania histopatologicznego bioptatu nerki. W niniejszym artykule omówiono podłoże genetyczne oraz diagnostykę nefropatii IgA

Results of Polish Adult Leukemia Study Group (PALG) project assessing TP53 mutations with next-generation sequencing technology in relapsed and refractory chronic lymphocytic leukemia patients — an 18-month update

Indtroduction and methods: In chronic lymphocytic leukemia (CLL), molecular and cytogenetic diagnostics are crucial for the determination of accurate prognosis and treatment choice. Among different genetic aberrations, del(17p13) or TP53 mutations constitute high-risk factors, and early identification of such defects is a high priority for CLL patients. While cytogenetic diagnostics is well-established and accessible for the majority of CLL patients in Poland, molecular diagnostics of TP53 mutations is performed only in a few ERIC-certified centers (eight as of September 2020), and only two of these employ next-generation sequencing (NGS) for routine analysis of TP53 status in CLL patients. Here we report the interim results of a project assessing TP53 mutations with NGS technology in relapsed or refractory CLL patients with confirmed negative del(17p13) status. 249 patients from 32 clinical centers were included in the study. Results: NGS analysis revealed TP53 mutations in 42/249 (17%) patients, half of whom (21/249, 8.5%) had subclonal mutations (VAF ≤10%). These results are in line with published data in relapsed/refractory CLL patients. Conclusions: The results of the project demonstrated the feasibility and accuracy of NGS testing in CLL patients despite several initial logistical and technical obstacles. Our study also proved that, with appropriate funding, CLL patients from any hematological center in Poland can have access to state-of-the-art molecular diagnostic

The role of rs1137100 LEPR in pathogenesis of overweight and obesity among study population

INTRODUCTION: Overweight and obesity have become serious public health problems. They are associated with leptin and the leptin receptor (LEPR). LEPR is one of the gp130 family proteins, which plays a great role in the human body. A number of studies have evaluated many LEPR polymorphisms. MATERIAL AND METHODS: The study included a group of 510 patients residing in the Upper Silesian Agglomeration (divided into healthy, overweight and obesity groups). The LEPR gene polymorphism was investigated using the Applied Biosystems 7300 Real-Time PCR System. The analysis was carried out with fluorescent-labeled probes by means of ready-to-use assay kits for single nucleotide polymorphism detection. RESULTS: There were no statistically significant differences in the distribution of genotypes in the healthy and overweight and obese subjects either in the whole group or in the male and female groups (p > 0.05). The incidence of allele A was 76.73% and allele G 23.27%. CONCLUSIONS: There were no significant differences in the distribution of the rs1137100 LEPR polymorphism for the development of overweight and obesity pathogenesis.WSTĘP: Nadwaga i otyłość stały się w obecnych czasach poważnym problemem zdrowia publicznego. Patogenezę tych schorzeń można wiązać m.in. z hormonem tkankowym – leptyną, a także jej receptorem kodowanym przez gen LEPR. Receptor leptyny, należący do rodziny białek gp130, odgrywa ogromną rolę w ludzkim organizmie m.in. w patogenezie nadwagi i otyłości. MATERIAŁ I METODY: Badaniem objęto 510 osób. Grupę badaną podzielono na trzy grupy: kontrolną – zdrowych, z nadwagą oraz otyłością. Polimorfizm genu dla receptora leptyny K109R (rs1137100) zbadano w reakcji łańcuchowej polimerazy za pomocą aparatu 7300 Real Time PCR System (Applied Biosystems). Do genotypowania wykorzystano komplementarne do badanych alleli, fluorescencyjnie znakowane sondy TaqMan Predesigned SNP Genotyping Assay (Applied Biosystems). WYNIKI: Nie wykazano znamiennych statystycznie różnic w rozkładzie genotypów między pacjentami zdrowymi a badanymi z nadwagą i z otyłością zarówno w całej grupie, jak i w grupach kobiet i mężczyzn (p > 0,05). Częstość występowania allelu A wynosiła 76,73%, allelu G 23,27%. WNIOSKI: Brak znamiennych różnic w rozkładzie polimorfizmu rs1137100 LEPR w patogenezie nadwagi i otyłości

Willingness to Oppose Smoking among Pregnant Women

Even though smoking causes numerous threats to the developing foetus, it is the most common addiction in Polish women of reproductive age. Most studies undertake to examine the subject of opposing second-hand smoking or creating tools to reprimand pregnant women more effectively using a qualitative methodology. The study aimed to determine the profile of a pregnant woman who is willing to oppose the smoking of another pregnant woman. The research was conducted using an original multiple-choice questionnaire. The survey was shared on websites for expecting parents. Completed questionnaires were collected from 11,448 pregnant women. The Wald test for logistic regression was used for statistical analysis. Predictors of whether someone would draw another pregnant women’s attention to the fact that smoking is harmful were: intellectual work (OR 1.136; p-value 0.020) and currently being a student (OR 1.363; p-value 0.004), involvement of the child’s father (OR 1.377; p-value < 0.001), contact with social campaigns (OR 1.150; p-value 0.005) and knowledge about the consequences of smoking, as well as talking to the midwife about the harmfulness of cigarettes during pregnancy (OR 1.655; p-value < 0.001). Interpersonal relationships leave scope for public health interventions. It is worth enhancing criticism against smoking by specialists through information and education campaigns