COVID-19 module in SRWE system - application and use in epidemiological surveillance and reporting to international institutions.

The new SARS-CoV-2 (Severe Acute Respiratory Syndrome Coronavirus-2) coronavirus causing acute respiratory disease COVID-19 (2019 coronavirus disease) detected in China in 2019 very quickly revealed its epidemic potential and was recognized as a global health problem. The situation caused by the rapidly increasing number of new cases and deaths due to COVID-19 required the rapid development of international recommendations and procedures to limit the spread of infections and ongoing monitoring of the epidemiological situation. In the field of epidemiological surveillance of COVID-19 cases, international organizations - WHO and regionally ECDC, have developed basic requirements for reporting data on newly detected cases of infection. In order to ensure the possibility of reporting new cases and activities undertaken by sanitary-epidemiological services in the country and to fulfill the obligation to report data to the European surveillance network, it was necessary to adapt the electronic system supporting epidemiological surveillance operations, for registration of suspected and confirmed cases of SARS-CoV-2 infections. This work presents the characteristics of the new COVID-19 module created as part of the central Epidemiological Case Reporting System and a preliminary evaluation of its usefulness for the purposes of combating COVID-19. CONCLUSIONS. The Epidemiological Case Reporting System is an efficient and adequate tool that can be adapted to newly emerging threats. In order to use the module to monitor the current epidemiological situation, it is necessary to integrate it with other systems collecting data about COVID-19 patients - ie. EWP and the clinical patient register.

Evaluation of susceptibility of polymer and rubber materials intended into contact with drinking water on biofilm formation

Background: Plumbing materials in water distribution networks and indoor installations are constantly evolving. The application of new, more economical solutions with plastic materials eliminates the corrosion problems, however, do not fully protect the consumer against secondary microbial contamination of water intended for human consumption caused by the presence of a biofilm on the inner surface of materials applied. National Institute of Public Health - National Institute of Hygiene conducts research aimed at a comprehensive assessment of this type of materials, resulting their further marketing authorization in Poland. Objectives: Evaluation and comparison of polymer and rubber materials intended to contact with water for the susceptibility to biofilm formation. Materials and Methods: Plastic materials (polyethylene, polypropylene, polyvinyl chloride) and rubber compounds (EPDM, NBR), from different manufacturers were evaluated. The study was carried out on 37 samples, which were divided into groups according to the material of which they were made. The testing was conducted according to the method based on conditions of dynamic flow of tap water. The level of bioluminescence in swabs taken from the surface of the tested materials was investigated with a luminometer. Results: Evaluation of plastic materials does not show major objections in terms of hygienic assessment. All materials met the evaluation criteria established for methodology used. In case of rubber compounds, a substantial part clearly exceeded the limit values, which resulted in their negative assessment and elimination of these materials from domestic market. Conclusions: High susceptibility to the formation of biofilm in the group of products made of rubber compounds has been demonstrated. Examined plastic materials, except for several cases, do not revealed susceptibility to biofilm formation, but application of plastics for distribution of water intended for human consumption does not fully protect water from secondary, microbiological contamination. Complete verification of plumbing materials including biofilm formation test before their introduction into the domestic market should be continued.

Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3.

BACKGROUND: A partial duplication of the distal long arm of chromosome 5 (5q35-->qter) is known to be associated with a distinct phenotype referred to as Hunter-McAlpine syndrome. Clinical spectrum of this disorder mainly consists of mental retardation, microcephaly, short stature, skeletal anomalies, and craniofacial dysmorphism featuring flat facies, micrognathia, large, low-set dysplastic ears, hypertelorism, almond-shaped, down-slanted palpebral fissures, epicanthal folds, small nose, long philtrum, small mouth, and thin upper lip. Less frequent remarkable findings include craniosynostosis, heart defect, hypoplastic phalanges, preaxial polydactyly, hypospadias, cryptorchidism, and inguinal hernia. In most patients with a partial duplication of 5q the aberration occurred due to an inherited unbalanced translocation, therefore the phenotype was not reflective of pure trisomy 5q. CASE PRESENTATION: We report on a 9.5-year-old boy with some feature of Hunter-McAlpine syndrome including short stature, complex heart defect (dextrocardia, dextroversion, PFO), bilateral cryptorchidism, hypothyroidism, and craniofacial dysmorphism. Additionally, bilateral radial agenesis with complete absence of Ist digital rays, ulnar hypoplasia with bowing, choroidal and retinal coloboma, abnormal biliary vesicle were identified, which have never been noted in 5q trisomy patients. Karyotype analysis, sequencing and MLPA for TBX5 and SALL4 genes were unremarkable. Array comparative genomic hybridization detected a duplication on 5q35.2-5q35.3, resulting from a de novo chromosomal rearrangement. Our proband carried the smallest of all previously reported pure distal 5q trisomies encompassing terminal 5.4-5.6 Mb and presented with the most severe limb malformation attributed to the increased number of distal 5q copies. CONCLUSIONS: We postulate that a terminal distal trisomy of 5q35.2-5q35.3, which maps 1.1 Mb telomeric to the MSX2 gene is causative for both radial agenesis and complex heart defect in our proband. A potential candidate gene causative for limb malformation in our proband could be FGFR4, which maps relatively in the closest position to the chromosomal breakage site (about 1.3 Mb) from all known 5q duplications. Since the limb malformation as well as the underlying genetic defect are distinct from other 5q trisomy patient we propose that a position effect resulting in altered long-range regulation of the FGFR4 (alternatively MSX2) may be responsible for the limb malformation in our proband.

[New rules of the bathing water quality management]. / Nowe zasady zarzadzania jakoscia wody w kapieliskach.

Directive 2006/7/EC concerning the management of bathing water quality and repealing directive 76/160/ EEC, adopted in 2006, resulted in changes polish laws and regulations of this topic, which were necessary to comply with the new Directive. These included Water Act and three regulations: on bathing water quality surveillance, on bathing waters register and on bathing water profile. The main changes in the sanitary surveillance on bathing waters quality and their consequences for bathers has been discussed in the article. According to new regulations conducting bathing water quality monitoring was handed over to organizers of bathing sites and local government. Bathing water supervision and water quality assessment is in Polish Sanitary Inspection competence. Unique solution of polish law is division of bathing places into two categories: bathing sites and places used for bathing. In a consequence regulations "create" another category of such objects like places used according to custom for bathing by neighbourhood people, which will be left without any supervision. There is significant threat that new formal aspects combined with organisers burdened with supervision and finance responsibilities, will lead to decrease number of bathing sites in favour of growing number of places used for bathing. This can in consequence diminish bathers health safety.

Expanded mutational spectrum of the GLI3 gene substantiates genotype-phenotype correlations.

Greig cephalopolysyndactyly syndrome (GCPS) and isolated preaxial polydactyly type IV (PPD-IV) are rare autosomal dominant disorders, both caused by mutations in the GLI3 gene. GCPS is mainly characterised by craniofacial abnormalities (macrocephaly/prominent forehead, hypertelorism) and limb malformations, such as PPD-IV, syndactyly and postaxial polydactyly type A or B (PAPA/B). Mutations in the GLI3 gene can also lead to Pallister-Hall syndrome (PHS) and isolated PAPA/B. In this study, we investigated 16 unrelated probands with the clinical diagnosis of GCPS/PPD-IV and found GLI3 mutations in 12 (75%) of them (nine familial and three sporadic cases). We also performed a detailed clinical evaluation of all 12 GLI3-positive families, with a total of 27 patients. The hallmark triad of GCPS (preaxial polydactyly, macrocephaly/prominent forehead, hypertelorism) was present in 14 cases (52%), whereas at least one typical dysmorphic feature was manifested in 17 patients (63%). Upon sequencing of the GLI3 gene, we demonstrated eight novel and two previously reported heterozygous point mutations. We also performed multiplex ligation-dependent probe amplification (MLPA) to screen for intragenic copy number changes and identified heterozygous deletions in the two remaining cases (16.7%). Our findings fully support previous genotype-phenotype correlations, showing that exonic deletions, missense mutations, as well as truncating variants localised out of the middle third of the GLI3 gene result in GCPS/PPD-IV and not PHS. Additionally, our study shows that intragenic GLI3 deletions may account for a significant proportion of GCPS/PPD-IV causative mutations. Therefore, we propose that MLPA or quantitative polymerase chain reaction (qPCR) should be implemented into routine molecular diagnostic of the GLI3 gene.