European Federation of Societies for Ultrasound in Medicine and Biology (EFSUMB): An Update on the Pediatric CEUS Registry on Behalf of the "EFSUMB Pediatric CEUS Registry Working Group".

The European Federation of Ultrasound in Medicine and Biology (EFSUMB) created the "EFSUMB Pediatric Registry" (EFSUMB EPR) with the purpose of collecting data regarding the intravenous application of pediatric contrast-enhanced ultrasound (CEUS). The primary aim was to document the current clinical practice and usefulness of the technique and secondarily to assess CEUS safety in children. We issue the preliminary results of this database and examine the overall practice of CEUS in children in Europe.

In search for the grave of 100 Poles executed on March 20, 1942 in Zgierz, Poland - research by SIGO (Network for Genetic Identification of Victims).

It can be reasonably assumed that remains exhumed in 2012 and 2013 during archaeological explorations conducted in the Lucmierz Forest, an important area on the map of the German Nazi terror in the region of Lodz (Poland), are in fact the remains of a hundred Poles murdered by the Nazis in Zgierz on March 20, 1942. By virtue of a decision of the Polish Institute of National Remembrance's Commission for the Prosecution of Crimes Against the Polish Nation, the verification of this research hypothesis was entrusted to SIGO (Network for Genetic Identification of Victims) Consortium appointed by virtue of an agreement of December 11, 2015. The Consortium is an extension of the PBGOT (Polish Genetic Database of Totalitarianisms Victims). So far, the researchers have retrieved 14 DNA profiles from among the examined remains, including 12 male and 2 female profiles. Furthermore, 12 DNA profiles of the victims' family members have been collected. Due to the fact that next-of-kin relatives of the victims of the Zgierz massacre are of advanced age, it is of key importance to collect genetic material as soon as possible from the other surviving family members, identified on the basis of a list of victims that has been nearly completely compiled by the Polish Institute of National Remembrance (IPN) and is presented in this paper.

Population database on: D1S1656, D2S441, D2S1338, D3S1358, D8S1179, D10S1248, D22S1045, D12S391, D16S539, D18S51, D19S433, D21S11, FGA, TH01, vWA loci included in NGM system based on one thousand unrelated individuals from Lodz region of Central Poland

A population data obtained on the basis of sample of 1000 unrelated individuals of Polish ancestry living in Lodz region of Central Poland with use of fluorescent multiplex-PCR and capillary electrophoresis were presented. Evaluation included 15 polymorphic loci DNA - STR from NGM multiplex-PCR set, ie. D1S1656, D2S441, D2S1338, D3S1358, D8S1179, D10S1248, D12S391, D16S539, D18S51, D19S433, D21S11, D22S1045, FGA, TH01, vWA. The allele frequency distribution and crucial statistical parameters for the investigated markers and the whole set were calculated. The compliance of the studied population with Hardy-Weinberg equilibrium, independence of inheritance and high parameters of the usefulness in forensic genetics have been demonstrated. The interpopulation comparison performed by the "neighbor-joining" method as well as multidimensional scaling depicted the genetic distances dividing the examined Polish population from other populations of Poland, Europe and the world.

Polymorphism of 12 STR loci included in the Investigator HD-plex kit in Polish population of Lodz region.

In this study Polish population data as well as efficiency parameters of 12 STR loci included in the Investigator HDplex set were presented. This set contains 9 systems not available in any other commercial multiplexes, ie.: D2S1360, D3S1744, D4S2366, D5S2500, D6S474, D7S1517, D8S1132, D10S2325 and D21S2055. The evaluation was preformed based on DNA samples derived from 303 unrelated individuals living in Lodz region, central part of Poland. The obtained distribution of the genotypes is consistent with the assumptions of the Hardy and Weinberg equilibrium (HWE). It reflects properly genetic structure of the studied population compared with other populations of Europe and the world. It indicates the linkage equilibrium within the pairs of investigated loci, as well as with regard to other syntenic loci. The total value of the power of exclusion (PE) and the random match probability (MP) were respectively 0.99999988 and 5.2 × 10-18. Therefore the polymorphism of examined genetic markers within the Investigator HD-plex multiplex allows for a significant increase of the evidence value. Thus it constitutes an excellent tool for resolving difficult cases in the field of forensic genetics.

The Utility of Contrast-Enhanced Ultrasound (CEUS) in Assessing the Risk of Malignancy in Thyroid Nodules.

BACKGROUND: Ultrasonography is a primary method used in the evaluation of thyroid nodules, but no single feature of this method predicts malignancy with high accuracy. Therefore, this paper aims to assess the utility of contrast-enhanced ultrasound (CEUS) in the differential diagnosis of thyroid nodules. METHODS: The study group comprised 188 adult patients (155 women and 33 men) who preoperatively underwent CEUS of a thyroid nodule classified as Bethesda categories II-VI after fine-needle aspiration biopsy. During the CEUS examination, 1.5 mL of SonoVue contrast was injected intravenously, after which 15 qualitative CEUS enhancement patterns were analysed. RESULTS: The histopathologic results comprised 65 benign thyroid nodules and 123 thyroid carcinomas. The dominant malignant CEUS features, such as hypo- and heterogeneous enhancement and slow wash-in phase, were evaluated, whereas high enhancement, ring enhancement, and a slow wash-out phase were assessed as predictors of benign lesions. Two significant combinations of B-mode and CEUS patterns were noted, namely, hypoechogenicity with heterogeneous enhancement and non-smooth margins with hypo- or iso-enhancement. CONCLUSIONS: The preliminary results indicate that CEUS is a useful tool in assessing the risk of malignancy of thyroid lesions. The combination of the qualitative enhancement parameters and B-mode sonographic features significantly increases the method's usefulness.

Ultrasound and cytopathological characteristics of thyroid tumours of uncertain malignant potential - from diagnosis to treatment.

INTRODUCTION: The latest World Health Organization (WHO) classification from 2022 distinguishes the division of low-risk thyroid neoplasms such as non-invasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP), follicular tumour of uncertain malignant potential (FT-UMP), and well-differentiated tumour of uncertain malignant potential (WDT-UMP). The final diagnosis is made postoperatively according to histopathologic results. The aim of the study was the assessment of ultrasonographic and cytopathological features of borderline lesions to predict low-risk tumours preoperatively and plan the optimal treatment for that group of patients. MATERIAL AND METHODS: A total of 35 patients (30 women; 5 men), aged 20-81 years with a mean age of 49 years, were enrolled in the study. The study evaluated 35 focal lesions of the thyroid gland, classified as low-risk neoplasms according to the WHO 2022 classification: FT-UMP (n = 21), NIFTP (n = 7), and WDT-UMP (n = 7). Ultrasonographic features of nodules including contrast-enhanced ultrasound (CEUS) and elastography were assessed by 2 specialists, and the risk of malignancy was evaluated according to EU-TIRADS-PL classification. RESULTS: Of the 35 focal thyroid lesions, most were categorised as low or intermediate risk of malignancy according to EU-TIRADS-PL, with dominant category 3 [n = 13 (37.2%)] and category 4 [n = 15 (42.8%)]. High-risk category 5 was assessed in 7 lesions (20%). In cytopathology nodules were categorised as follows (Bethesda System TBSRTC 2023): Bethesda II (n = 4), Bethesda III (n = 2), Bethesda IV (n = 25), Bethesda V (n = 3), and Bethesda VI (n = 1). In the CEUS study, contrasting patterns dominated compared to the surrounding parenchyma, such as enhancement equal to the parenchyma (66.6%) or intense (28.5%), heterogeneous (61.9%), centripetal (42.8%), or diffuse (57.1%) with fast (33.3%) or compared to parenchyma contrast wash-in (42.8%) and its fast (33.3%) or comparable to thyroid parenchyma wash-out (52.3%). CONCLUSIONS: The study indicates that lesions with uncertain malignant potential typically present features suggesting low to intermediate risk of malignancy based on EU-TIRADS-PL classification, with dominant cytopathologic Bethesda IV category. However, 20% of lesions were assessed tas EU-TIRADS-PL category 5. Low-risk tumours, including NIFTP, FT-UMP, and WDT-UMP, require careful observation and monitoring post surgical treatment due to their potential for recurrence and metastasis. The preoperatively prediction of borderline tumour may play an important role in proper treatment and follow-up.

Forensic evaluation of the AmpFlSTR® NGM™ loci in Lodz region of Poland population sample.

The paper is focused on population data for 15 polymorphic STR loci included in the NGM(TM) amplification kit, obtained from a sample of 800 individuals from the Lodz region of Poland. Main statistical parameters of forensic interest were calculated and Hardy-Weinberg equilibrium was verified for each locus. Departure from HWE was not significant after applying Bonferroni corrected significance level for multiple testing (p = 0.0033). Comparative analysis between chosen populations was performed and some significant differences were found among investigated populations. Obtained values of parameters for NGM™ multiplex amplification kit point to wide range of possible applications of investigated STR markers to forensic genetics.

Genetic investigation of biological materials from patients after stem cell transplantation based on autosomal as well as Y-chromosomal markers.

The authors presented the results of DNA polymorphism investigation of blood, buccal swabs and hair follicles originating from patients after allogeneic hematopoietic stem cell transplantation. The real-time and multiplex assays based on polymerase chain reaction within the range of autosomal as well as Y-chromosomal markers were applied to assess the possible dangers arising from investigation of these materials in forensic genetics. The results revealed that not only post-transplant blood and buccal swab, but also recipient hair, up to now regarded as devoid of any donor's cells, do not constitute entirely safe material for forensic purposes. Their analysis can lead to the false identification of gender or male haplotype. The investigation of sex-determining region Y and Y-chromosome short tandem repeats performed in female recipients with male donors resulted in the designation of donor's DNA in hair cells as well as in blood and buccal swabs. Therefore, biological stains gathered from crime scenes should not be analysed exclusively based on the investigation of male-specific markers.

[Genetic analysis of human remains exhumed during archaeological excavations on former military training ground Brus in Lodz]. / Analiza genetyczna szczatków ludzkich ekshumowanych podczas badan archeologicznych na terenie bylego poligonu na Brusie w Lodzi.

The aim of this study was the genetic identification of Nazi repression victims. Human remains were found in 2011 in the area of former military training ground BRUS in Lodz. Genetic tests were performed upon the request of the Departmental Commission for the Prosecution of Crimes against the Polish Nation of the Institute of National Remembrance in Lodz. The research material was provided by the Institute of Archaeology (University of Lodz). It consisted of bones and teeth which were exhumed from mass Grave No 7. As a reference material we used a buccal swab collected from the putative son of one of the victims. Genomic DNA was extracted from the skeletal samples using the PrepFiler BTA Forensic DNA Extraction Kit. DNA was amplified using the AmpFlSTR Identifiler Plus PCR Amplification Kit and analyzed using an AB 3500 genetic analyzer. The obtained results showed 12 male genetic profiles. The analysis excluded paternity of 10 investigated victims. The genetic data of the remaining samples did not allow for paternity settlement.

[Y-STR Poland--a database for evaluation of evidence value in forensic genetics]. / Y-STR Polska--baza danych do oceny wartosci dowodowej w genetyce sadowej.

The "Y-STR Poland" is a multicenter project, the aim of which is the construction of a widely available database of Y chromosome haplotypes determined in the Polish population in a range of sixteen loci in AmpFISTR Y-filer system. The database will be regularly updated and it will be used in assessment of evidence value in forensic genetics. The starting base "Y-STR Poland" contains 1600 Y-STR haplotypes and encompasses data collected in Lodz (two independent centers), Warsaw and Szczecin regions. The present report contains as an attachment the data in an Excel-type file, which serves as a tool in frequency determination of a given Y haplotype in the Polish population. The file will be updated on a regular basis along with updating the database, and will be freely available from www.genetyka-sadowa.pl.

Incidental Findings and How to Manage Them: Testis- A WFUMB Position Paper.

Testicular incidentalomas are non-palpable, asymptomatic lesions, most frequently detected on ultrasound examinations. Each incidentaloma should undergo a standardized diagnostic workup to exclude malignancy and recognize other potentially significant non-malignant conditions that may first present with an incidental finding on scrotal ultrasound. This position statement of the World Federation of Ultrasound in Medicine and Biology (WFUMB) summarizes the available evidence on management of testicular incidentalomas and describes efficient management strategies with particular reference to the role of ultrasound techniques.

[Application of the QIAamp DNA Investigator Kit and Prepfiler Forensic DNA Extraction Kit in genomic DNA extraction from skeletal remains]. / Wykorzystanie zestawów QIAamp DNA Investigator Kit oraz PrepFiler Forensic DNA Extraction Kit w procesie izolacji genomowego DNA z materialu kostnego.

The report presents an application of the QIAamp DNA Investigator Kit and PrepFiler Forensic DNA Extraction Kit in genomic DNA extraction from post-mortem highly degraded skeletal remains. The analysis included 25 bone samples collected on autopsy. DNA extraction was performed in accordance with the QIAamp DNA Investigator Kit and PrepFiler Forensic DNA Extraction Kit manufacturer's isolation protocols. Amplification was performed on a Biometra termocycler using the AmpFISTR Identifiler PCR Amplification Kit according to the manufacturer's protocol. Typing of PCR products was carried out on an ABI Prism 377 DNA sequencer. The recommended parameters for GeneScan analysis and Genotyper software were followed. The authors demonstrated that the QIAamp DNA Investigator Kit was more effective, convenient and statistically significantly better method which may be employed in DNA extraction from bone specimens.

Duplicated inferior vena cava with coexisting multiple vascular anomalies and their clinical implications: a case report.

The paper presents the case of a 23-year-old man with multiple venous anomalies. The abnormalities were asymptomatic, and they were detected accidentally on routine abdominal ultrasound examination. The anomalies were found in the inferior vena cava, right testicular vein, left renal vein, and hepatic veins. Familiarity with different developmental variants within the inferior vena cava and other venous vessels plays a crucial role in ultrasound imaging. Vascular anomalies, although rare, should be taken into account in the differential diagnosis of focal lesions within the abdominal cavity. Also, variation in vascular anatomy may be a precipitating factor for blood flow disorders, and hence predispose patients to deep vein thrombosis and other pathological conditions. The reported case serves as a valuable addition to the knowledge of the vascular system that radiologists use in their everyday practice when performing diagnostic ultrasound examinations.

Potential value of three-dimensional ultrasonography in diagnosing muscle injuries in comparison to two-dimensional examination--preliminary results.

BACKGROUND: Two-dimensional ultrasonography (2D-US) has become a widely used and accepted diagnostic tool in musculoskeletal disorders. Its utility in the evaluation of muscle injury and pathology is generally recognised. In contrast, the place and role of three-dimensional US imaging (3D-US) in the diagnostic work-up of musculoskeletal conditions are still not recognised even though 3D-US is a well-established technique in, for example, obstetrics. The aim of this study was to find out if it is possible to assess lesions of muscles more accurately and with more detail using the 3D technique in comparison to 2D imaging. MATERIAL AND METHODS: The study involved 14 patients aged 16-39 years (mean age 24.8 yrs) with muscle injuries and 2 volunteers to determine the best technique of performing the examination and acquiring images that can best visualise the structure of muscles. The 2D and 3D images were compared with respect to visualisation of lesions and their size. It was also investigated whether the additional third "Z" plane could furnish relevant information regarding the visible lesion. RESULTS: The results of evaluation of features and size of the lesions in the muscles were very similar and reliable with both modalities. For small lesions, measurements of their size differed slightly. The differences were bigger for bigger lesions. Additional information leading to re-classification of the type of the lesion or more precise delineation of its margins was obtained in 6 of the 14 cases (42.8%). The duration of a 3D study was usually longer with bigger lesions. The 3D-reconstructed model helped in better visualising and understanding the anatomical relations of the injured muscle with surrounding tissues. Recording data as volume scans made possible later re-assessment of images and their independent verification by a consultant at any desired time. CONCLUSIONS: 1. 3D US imaging is as reliable and accurate as the 2D technique in the assessment of muscle injuries. In some cases, especially with smaller lesions, the borders and type of the lesion are better visualized with the additional third plane. Additional information regarding the location of the lesions in the frontal plane can be obtained with 3D imaging. It is more difficult to assess whole lesions of greater size requiring two or more volume scans. The acquisition of volume data enables the reading of images at any desired time and also makes it possible to ask a consultant to verify the findings.

Potential value of contrast-enhanced gray-scale ultrasonography in diagnosis of acute muscle injury--preliminary results.

BACKGROUND: Ultrasonography performed shortly after a direct or indirect muscle trauma may be confusing. The extent of a muscular tear can be difficult to assess because of oedema, intramuscular haematomas and red infarct. The aim of this study was to find out if it is possible to assess the extent of muscular lesions shortly (6 to 48 hours) after a trauma with improved accuracy using contrast-enhanced gray-scale ultrasonography. MATERIALS AND METHODS: Ultrasonograp[hic examinations were carried out in 7 male football players 8 to 48 hours following a direct (4) and indirect (3) trauma, and one female dancer with an indirect muscle trauma. Standard B-mode US examinations and gray-scale contrast-enhanced US after administration of Sonovue (Altana Pharma, Konstanz, Germany) were performed in all patients to evaluate the margins and size of the posttraumatic lesions. In contrast-enhanced studies, the size of the structural lesion in the muscle and space that might correspond to the muscle tear were measured. RESULTS: In all 8 cases, the borders of the muscular lesions were better delineated following administration of the contrast agent as a poorly and irregularly enhanced or non-enhancing areas. In 3 cases of direct and 2 cases of indirect trauma, the lesions were bigger in the contrast-enhanced study, and in one case of direct trauma and 2 indirect lesions, they were smaller following contrast-enhancement. CONCLUSION: These preliminary results indicate that gray-scale contrast-enhanced US of muscle can be helpful in the assessment of the extent of muscular trauma in dubious cases during the early post-injury period.

Erratum to: Donor age and C1orf132/MIR29B2C determine age-related methylation signature of blood after allogeneic hematopoietic stem cell transplantation.

[This corrects the article DOI: 10.1186/s13148-016-0257-7.].

Donor age and C1orf132/MIR29B2C determine age-related methylation signature of blood after allogeneic hematopoietic stem cell transplantation.

BACKGROUND: Our recent study demonstrated that DNA methylation status in a set of CpGs located in ELOVL2, C1orf132, TRIM59, KLF14, and FHL2 can accurately predict calendar age in blood. In the present work, we used these markers to evaluate the effect of allogeneic hematopoietic stem cell transplantation (HSCT) on the age-related methylation signature of human blood. METHODS: DNA methylation in 32 CpGs was investigated in 16 donor-recipient pairs using pyrosequencing. DNA was isolated from the whole blood collected from recipients 27-360 days (mean 126) after HSCT and from the donors shortly before the HSCT. RESULTS: It was found that in the recipients, the predicted age did not correlate with their calendar age but was correlated with the calendar age (r = 0.94, p = 4 × 10(-8)) and predicted age (r = 0.97, p = 5 × 10(-10)) of a respective donor. Despite this strong correlation, the predicted age of a recipient was consistently lower than the predicted age of a donor by 3.7 years (p = 7.8 × 10(-4)). This shift was caused by hypermethylation of the C1orf132 CpGs, for C1orf132 CpG_1. Intriguingly, the recipient-donor methylation difference correlated with calendar age of the donor (r = 0.76, p = 6 × 10(-4)). This finding could not trivially be explained by shifts of the major cellular factions of blood. CONCLUSIONS: We confirm the single previous report that after HSCT, the age of the donor is the major determinant of age-specific methylation signature in recipient's blood. A novel finding is the unique methylation dynamics of C1orf132 which encodes MIR29B2C implicated in the self-renewing of hematopoietic stem cells. This observation suggests that C1orf132 could influence graft function after HSCT.

Vascular phases in imaging and their role in focal liver lesions assessment.

The incidental finding of a liver lesion with basic ultrasound is one of the most common clinical issues. Some of the liver lesions which present typical morphological B-mode features (e.g. cysts, typically localized focal fatty sparing/accumulations, hyperechoic hemangiomas) can be easily diagnosed by conventional ultrasound without the need of further diagnostic procedures. Others frequently necessitate further investigation with contrast-enhanced imaging techniques or biopsy in order to differentiate benign from malignant lesions and obtain a final diagnosis. This paper will discuss differences between vascular phases of different cross-sectional contrast-enhanced methods, as well as their subsequent benefits for focal liver lesions (FLLs) assessment, adding also a particular emphasis on small FLLs detection and characterization.

Contrast enhanced ultrasound of sentinel lymph nodes.

Sentinel lymph nodes are the first lymph nodes in the region that receive lymphatic drainage from a primary tumor. The detection or exclusion of sentinel lymph node micrometastases is critical in the staging of cancer, especially breast cancer and melanoma because it directly affects patient's prognosis and surgical management. Currently, intraoperative sentinel lymph node biopsies using blue dye and radioisotopes are the method of choice for the detection of sentinel lymph node with high identification rate. In contrast, conventional ultrasound is not capable of detecting sentinel lymph nodes in most cases. Contrast enhanced ultrasound with contrast specific imaging modes has been used for the evaluation and diagnostic work-up of peripherally located suspected lymphadenopathy. The method allows for real-time analysis of all vascular phases and the visualization of intranodal focal "avascular" areas that represent necrosis or deposits of neoplastic cells. In recent years, a number of animal and human studies showed that contrast enhanced ultrasound can be also used for the detection of sentinel lymph node, and may become a potential application in clinical routine. Several contrast agents have been used in those studies, including albumin solution, hydroxyethylated starch, SonoVue(®), Sonazoid(®) and Definity(®). This review summarizes the current knowledge about the use of ultrasound techniques in detection and evaluation of sentinel lymph node.