Tissue-Welding Device: Considerable Advantages for Spleen Surgery Based on Histological and Cardiorespiratory Investigation.

During splenic surgery, it is important to control blood loss and the potential risk of cardiac arrhythmia. The best way to prevent complications from surgery is to use the appropriate surgical devices; however, there is no guideline for the use of specific surgical devices for spleen incision. Therefore, the aim of this research was to compare the interactions of various surgical devices with spleen tissue, their cardiorespiratory effects during incision, and subsequent spleen surgical wound healing. A total of 75 rabbits were included in the study. CO2 laser (n = 15), radiofrequency device (n = 15), electrocoagulator (n = 15), tissue-welding device (n = 15), and scalpel (n = 15) were used to make incisions in rabbits' spleens. Spleen biopsies of the incision area were taken from each animal at the day 0, 7, and 14 after surgery. Contactless thermography was performed during surgery. Suturing was not used after incision with the tissue-welding device, but incisions made by other surgical devices were sutured. The results showed that the width of spleen necrosis differed significantly between the various surgical devices used on spleen tissues. There was a positive, strong, and linear association between necrosis width and the tissue temperature of cutting edges. Significant increases in the heart rate were observed during spleen surgery performed with laser, scalpel, and radiofrequency devices. In conclusion, the tissue-welding device confers a significant advantage in spleen surgery, as there is neither a need for sutures nor a significant deviation in the heart rate.

The outcomes after transfers of embryos with chromosomal mosaicism: a single reproductive medicine center experience at iVF Riga clinic.

Aim: The aim of this study is to summarize the outcomes of transfers of mosaic embryos, which were classified according to guidelines and in strong collaboration of reproductologists, clinical geneticists and patients approved as suitable for transfer. Material and Methods: Retrospective data were collected from 70 patients from a private IVF center to whom embryos with mosaic changes in chromosomal material were transferred from 2015 to 2019. Results and Conclusion: Implantation outcomes and continuing pregnancies showed slight differences, when compared to fully normal embryos. Artifacts have to be differentiated from undeniable aberrations, and correct interpretation of results must be done with following patient counselling and prenatal testing if necessary.

Case of Inherited Partial AZFa Deletion without Impact on Male Fertility.

Male factor infertility accounts for 40-50% of all infertility cases. Deletions of one or more AZF region parts in chromosome Y are one of the most common genetic causes of male infertility. Usually full or partial AZF deletions, including genes involved in spermatogenesis, are associated with spermatogenic failure. Here we report a case of a Caucasian man with partial AZFa region deletion from a couple with secondary infertility. Partial AZFa deletion, involving part of USP9Y gene appears to be benign, as we proved transmission from father to son. According to our results, it is recommended to revise guidelines on markers selected for testing of AZFa region deletion, to be more selective against DDX3Y gene and exclude probably benign microdeletions involving only USP9Y gene.

Pathogenic APC Variants in Latvian Familial Adenomatous Polyposis Patients.

Background and objectives: Familial adenomatous polyposis is one of the APC-associated polyposis conditions described as genetically predetermined colorectal polyposis syndrome with a variety of symptoms. The purpose of this study was to determine sequence variants of the APC gene in patients with familial adenomatous polyposis (FAP) phenotype and positive or negative family history. Materials and Methods: Eight families with defined criteria of adenomatous polyposis underwent molecular genetic testing. Coding regions and flanking intron regions of the APC gene were analyzed by Sanger sequencing. Results: Eight allelic variants of the APC gene coding sequence were detected. All allelic variants of the APC gene were predicted to be pathogenic based on criteria according to the "Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology" (2015), four of them c.1586_1587insAT, c.2336delT, c.3066_3067insGA, and c.4303_4304insC, were considered novel. Conclusions: The timely molecular genetic analysis of APC germline variants and standardized interpretation of the pathogenicity of novel allelic variants has a high impact on choice for treatment, cancer prevention, and family genetic counseling.

HLA II class alleles in juvenile idiopathic arthritis patients with and without temporomandibular joint arthritis.

BACKGROUND: Temporomandibular joint (TMJ) arthritis is seen very often (38-87 %) in children with juvenile idiopathic arthritis (JIA). With contrast enhanced magnetic resonance imaging (MRI) we can detect more cases of TMJ arthritis than ever before. Previous studies show that HLA II class alleles may have protective or risk importance in JIA subtypes. Our objective is to identify HLA II class alleles of risk and protection in JIA patients with TMJ arthritis. METHODS: During the period from 2010 to 2015 MRI for TMJ was performed in 85 JIA patients who were genotyped for HLA- DRB1; DQB1 and DQA1 using RT-PCR with sequence-specific primers. As a control group, data of 100 individuals were taken from the genetic bank of RSU Joint Laboratory of Clinical Immunology and Immunogenetics. Associations of DRB1; DQB1; DQA1 alleles in patients were examined individually using the χ (2) test. P-value (<0.05) and odds ratio were calculated using EPI INFO 6.0 software. RESULTS: Out of 85 JIA patients with mean age of 13.7 ± 3.0 years (range 6.9-17.9 years), 59 (69 %) were girls and 26 (31 %) were boys. The mean duration of the disease was 3.07 ± 2.35 years (range 0.2-11.0 year). JIA subtypes were as follows: seronegative polyarthritis 51 (60 %), seropositive polyarthritis 6(7 %), oligoarthritis extended 7(8 %), oligoarthritis persistent 2 (2 %) arthritis with enthesitis 14 (17 %), undifferentiated 3 (4 %) and 2 (2 %) systemic arthritis. Two groups where separated after TMJ MRI exam: first with at least two signs of active inflammation and/or any structural damage (n = 62); second with no pathologic signs or with slight contrast enhancement (n = 23). We discovered that there are risk alleles that are found in all JIA patient's groups (MRI positive and negative groups) versus controls such as DRB1*07:01, DQB1*03:03; DQB1*05:01. Also some protective alleles as DRB1*18:01, DQB1*06:02-8 were found in overall JIA group. Alleles DRB1*12:01, DQB1*03:01; DQA1*05:01 were found to be protective for TMJ arthrits. CONCLUSION: In our study there were no convincing risk alleles, but there are alleles that probably are protective for TMJ arthritis like DRB1*12:01, DQB1*03:01; DQA1*05:01.

Telomere length in Chernobyl accident recovery workers in the late period after the disaster.

The outcome of the Chernobyl nuclear power plant (CNPP) accident was that a huge number of people were exposed to ionizing radiation. Previous studies of CNPP clean-up workers from Latvia revealed a high occurrence of age-associated degenerative diseases and cancer in young adults, as well as a high mortality as a result of cardiovascular disorders at age 45-54 years. DNA tandem repeats that cap chromosome ends, known as telomeres, are sensitive to oxidative damage and exposure to ionizing radiation. Telomeres are important in aging processes and carcinogenesis. The aim of this study was to investigate the long-term effect of protracted ionizing radiation exposure on telomere length in CNPP clean-up workers. Relative telomere length (RTL) was measured in peripheral blood leukocytes of 595 CNPP clean-up workers and 236 gender- and age-matched controls using real-time quantitative polymerase chain reaction (q-PCR). Close attention was paid to participation year and tasks performed during the worker's stay in Chernobyl, health status, and RTL differences between subgroups. Telomere shortening was not found in CNPP clean-up workers; on the contrary, their RTL was slightly greater than in controls (P = 0.001). Longer telomeres were found in people who worked during 1986, in those undertaking 'dirty' tasks (digging and deactivation), and in people with cancer. Shorter telomeres appeared frequently in those with cataract, osteoporosis, atherosclerosis, or coronary heart disease. We conclude that the longer telomeres revealed in people more heavily exposed to ionizing radiation probably indicate activation of telomerase as a chromosome healing mechanism following damage, and reflect defects in telomerase regulation that could potentiate carcinogenesis.

Epidemiological analysis of hereditary endometrial cancer in a large study population.

AIMS: To determine the prevalence of hereditary endometrial cancer and the clinical and molecular characteristics of hereditary endometrial cancer patients. METHODS: Standardized oncological family histories were collected from 704 consecutive patients with endometrial cancer from January 2006 to April 2012 and analyzed using internationally approved and modified diagnostic criteria based on the Amsterdam I and II criteria. Blood samples were collected from 648 patients. Paraffin embedded tissues for immunohistochemical examination were gathered from 109 patients. All patients were split into two main groups corresponding to hereditary and sporadic endometrial cancer. RESULTS: The prevalence of hereditary endometrial cancer was established as 2.7 % (95 % CI 1.7-4.2 %) or 19/704 patients. 15/19 (78.9 %; 95 % CI 56.7-91.5 %) patients were diagnosed in stage I. Grade 2 tumors were the most common ones with 11/19 (57.9 %; 95 % CI 36.3-76.9 %) patients. In the MLH1 gene, two patients were carrying the missense mutations P640S (rs63749792) and I219V (rs1799977) each. In the MSH2 gene, one had the splice site mutation IV5+3A>T while another had the missense mutation G322D (rs4987188). In the MSH6 gene, two were carrying the frameshift mutations 2150TCAG (rs63750159) and 1050delC each. No clinically putative significant mutations were found in two patients. CONCLUSIONS: No significant survival, stage and grade of differentiation differences were observed between the hereditary group and the sporadic group. Clinical and molecular investigations promote an earlier diagnosis of endometrial cancer in families where at least three first-degree relatives have endometrial cancer.

BRCA1/2 mutation screening in high-risk breast/ovarian cancer families and sporadic cancer patient surveilling for hidden high-risk families.

BACKGROUND: The estimated ratio of hereditary breast/ovarian cancer (HBOC) based on family history is 1.5% in Latvia. This is significantly lower than the European average of 5-10%. Molecular markers like mutations and SNPs can help distinguish HBOC patients in the sporadic breast and ovarian cancer group. METHODS: 50 patients diagnosed with HBOC in the Latvian Cancer Registry from January 2005 to December 2008 were screened for BRCA1 founder mutation-negatives and subjected to targeted resequencing of BRCA1 and BRCA2 genes. The newly found mutations were screened for in the breast and ovarian cancer group of 1075 patients by Real Time-PCR/HRM analysis and RFLP. RESULTS: Four BRCA2 mutations including three novel BRCA2 frameshift mutations and one previously known BRCA2 frameshift mutation and one BRCA1 splicing mutation were identified. Two of the BRCA2 mutations were found in a group of consecutive breast cancer patients with a frequency of 0.51% and 0.38%. CONCLUSIONS: Molecular screening of sequential cancer patients is an important tool to identify HBOC families.

Challenges in the management of a patient with Cowden syndrome: case report and literature review.

We would like to present a patient with a classical phenotype of a rare disorder - Cowden syndrome, its diagnostics and management challenges. A breast surgeon has to be aware of this rare condition when treating a patient with breast manifestations of Cowden syndrome and has to refer the patient to a clinical geneticist for further evaluation. Sequencing of the PTEN gene showed the Asp24Gly mutation. According to the latest literature data, the lifetime risk of breast cancer for Cowden syndrome patients is 81% and surgery is a justified option to reduce the risk of breast cancer. Bilateral risk-reducing mastectomy with immediate reconstruction was performed to eliminate further risk of breast cancer. 3 years after the risk-reducing breast surgery the patient is satisfied with the outcome. This is to our best knowledge the first reported Cowden syndrome case with follow-up data after risk-reducing measures have been taken.

Macrolide resistance in group A beta haemolytic Streptococcus isolated from outpatient children in Latvia.

Group A streptococci (GAS) are responsible for up to 30% of cases of pharyngitis in children, and such children do not benefit from treatment with antibiotics. During the last decade, increased resistance to macrolides has emerged as a critical issue in the treatment of GAS pharyngitis. The objective of this study was to determine the antimicrobial resistance of group A beta haemolytic Streptococcus isolated from outpatient children. From 2002 to 2006, 96 GAS strains were obtained from the pharynx of outpatients having symptoms of acute pharyngitis. Antibiotic resistance was determined by disc susceptibility tests according to CLSI standards. The presence of ermA, ermB and mefA was established by the amplification of streptococcal DNA with specific primers. Antimicrobial susceptibility tests revealed that all the strains tested were sensitive to vancomycin, linezolid, penicillin and ceftriaxone. Simultaneously, high levels of resistance to macrolides were evident; 78% of the isolates were resistant to clindamycin and erythromycin. No significant change in the yearly or seasonal incidence of resistance was observed. We describe high antimicrobial resistance of GAS to macrolides in outpatient children (78%), which can be explained by the frequent use of macrolides in the treatment of such individuals. Therefore, macrolides should not be the first drug of choice.