The highest frequency of c.3700_3704del detected among Albanians from Kosovo.

BACKGROUND The spectrum of and mutations varies among populations; however, some mutations may be frequent in particular ethnic groups due to the "founder" effect. The c.3700_3704del mutation was previously described as a recurrent variant in Eastern European countries. This study aimed to investigate the frequency of c.3700_3704del mutation in Albanian breast and ovarian cancer patients from North Macedonia and Kosovo. MATERIALS AND METHODS A total of 327 patients with invasive breast and/or ovarian cancer (111 Albanian women from North Macedonia and 216 from Kosovo) were screened for 13 recurrent mutations. Targeted NGS with a panel of 94 cancer-associated genes including and was performed in a selected group of 118 patients. RESULTS We have identified 21 /2 pathogenic variants, 17 (14 and 3 ) in patients from Kosovo (7.9%) and 4 (1 and 3 ) in patients from North Macedonia (3.6%). All mutations were found in one patient each, except for c.3700_3704del mutation which was observed in 14 unrelated families, all except one originating from Kosovo. The c.3700_3704del mutation accounts for 93% of mutation positive cases and is present with a frequency of 6% among breast cancer patients from Kosovo. CONCLUSIONS This is the first report of mutations among breast and ovarian cancer patients from Kosovo. The finding that c.3700_3704del represents a founder mutation in Kosovo with the highest worldwide reported frequency supports the implementation of fast and low-cost screening protocol, regardless of the family history and even a pilot population-based screening in at-risk population

Correlative Valuesof Body Weight (Body Mass Index) And Dental Caries In Examinees With Primary Dentition

The purpose of the examination was to determine the effects of the BMI on the onset of dental caries in children with primary dentition, and their interdependent correlation with the intensity of the dental caries. Material and methodology: For the realization of our study, we randomly selected 74 pre-school children (35 female and 39 male) which were at the age of 4-6 years and were enrolled in the primary schools in the city of Stip, and then they were divided into two groups: an experimental and a control group. In all examinees the BMI values were calculated .The calculation of the body mass(BMI) in % was done using a scheme according to gender, using the scale given by the CDC (Center for Disease Control and Prevention) and clinical trials were also carried out (dmf and intensity of dental caries). Results: The results of the study indicated that between the body weight of the children and the presence of dental caries for Pearson Chi-square = 2.80 and p> 0.05 there is no significant correlation. In the determination of the significance of the contribution of each component toward the presence of dental caries, it was found that malnutrition had the greatest influence (Wald = 2.06 / p> 0.05 (p = 0.15), then being overweight (Wald = 0.89 / p> 0.05 (p = 0.35) and the weakest influence was seen by the normal weight (Wald = 0.39 / p> 0.05 (p = 0.53).As a conclusion, we would say that decades of research focused on the identification of children with a high risk for development of dental caries and the detection of their cause is of paramount importance, and it has been proven that BMI is one of the most seriou

Процена на ризични фактори за кариес со користење на вкупен и редуциран Cariogram кај училишни деца на возраст од 10-12 години

Кратака содржина Кариограмот претставува графичка слика којашто на интерактивен начин го прикажува ризикот од развој на нов ка- риес во иднина кај пациентот, а притоа придонесува за утврдување до кој степен различни етиолошки фактори на кариес го предизвикуваат ризикот од кариес кај одреден пациент. Цел на трудот да се направи проценка на кариес ризик фактори и прираст на ка- риес во временскиот период од 2 години кај испитаници со трајни заби со корис- тење на редуцираниот кариограм. Дистрибуцијата на кариес ризик (%) утвр ден со кариограм во првата година (I) од испитувањето, редуцираниот кариог- рамбез саливарни тестови и streptococcus mutans од вкупно 88 деца на возраст од 10- 12 години, кај 44,32% деца утврден беше многу висок ризик за кариес, кај 21,59%бе- ше висок ризик за кариес, умерен ризик за кариес имаа 25,00% деца, кај 4,55% деца утврден беше низок ризик за кариес, а многу низок ризик за кариес регистриран е кај 4,55% од децата и, шансата да се од- бегне кариес кај овие деца изнесуваше 81 – 100 %. Кариес ризикот утврден со кари- ограм во втората година од испитување- то (редуцираниот кариограм) без сали- варни тестови и Streptococcus mutans, кај 4,32% деца беше утврден многу висок ри- зик за кариес, кај 20,45% утврден беше ви- сок ризик за кариес, а умерен ризик за ка- риес имаа 25,00% деца, а кај 10,23% деца утврден беше низок ризик за кариес и шансата да се одбегне кариес кај овие де- ца изнесуваше 81 – 100 %. Клучни зборови: Кариесот ризик фак- тори, reducirancariogram, DMF

The highest frequency of BRCA1 c.3700_3704del detected among Albanians from Kosovo

Background: The spectrum of BRCA1 and BRCA2 mutations varies among populations; however, some mutations may be frequent in particular ethnic groups due to the “founder” effect. The c.3700_3704del mutation was previously described as a recurrent BRCA1 variant in Eastern European countries. This study aimed to investigate the frequency of c.3700_3704del BRCA1 mutation in Albanian breast and ovarian cancer patients from North Macedonia and Kosovo. Materials and methods: A total of 327 patients with invasive breast and/or ovarian cancer (111 Albanian women from North Macedonia and 216 from Kosovo) were screened for 13 recurrent BRCA1/2 mutations. Targeted NGS with a panel of 94 cancer-associated genes including BRCA1 and BRCA2 was performed in a selected group of 118 patients. Results: We have identified 21 BRCA1/2 pathogenic variants, 17 (14 BRCA1 and 3 BRCA2) in patients from Kosovo (7.9%) and 4 (1 BRCA1 and 3 BRCA2) in patients from North Macedonia (3.6%). All BRCA1/2 mutations were found in one patient each, except for c.3700_3704del BRCA1 mutation which was observed in 14 unrelated families, all except one originating from Kosovo. The c.3700_3704del mutation accounts for 93% of BRCA1 mutation positive cases and is present with a frequency of 6% among breast cancer patients from Kosovo. Conclusions: This is the first report of BRCA1/2 mutations among breast and ovarian cancer patients from Kosovo. The finding that BRCA1 c.3700_3704del represents a founder mutation in Kosovo with the highest worldwide reported frequency supports the implementation of fast and low-cost screening protocol, regardless of the family history and even a pilot population-based screening in at-risk population. Key words: BRCA1; c.3700_3704del; founder mutation; breast cancer; Kosov