Mucinous cystadenocarcinomas of the pancreas

BACKGROUND/AIMS: The purpose of this study was to evaluate the clinicopathologic characteristics, diagnosis and treatment of mucinous cystadenocarcinomas (MCACs) of the pancreas. METHODOLOGY: This is a retrospective review of 6 patients who underwent curative resection for MCACs of the pancreas in the Department of General Endocrine and Transplantation Surgery, Medical University of Gdańsk from 1994-2004. Clinical presentation, radiological evaluation and surgical procedures were analyzed. RESULTS: There were 4 women and 2 men. Median age was 59 years. Patients complained of abdominal pain, nausea, vomiting and weigh loss, 2 of them had jaundice and 1 gastrointestinal (GI) bleeding. Ultrasonography and computed tomography showed cystic lesions. Solid component was found in 3 cases. Three endoscopic retrograde cholangiopancreatographys (ERCPs) were unhelpful in differentiating between malignant tumor and benign lesion. All patients underwent resection. In 3 cases Whipple resection, in 1 case Traverso - Longmire resection and in 2 cases distal pancreatectomy was performed. Histopathologically, all tumors were mucinous cystadenocarcinomas. CONCLUSIONS: Diagnostic accuracy for cystic pancreatic neoplasm is still limited. Surgical resection is recommended in all cystic tumors that are not clearly defined.     

First case of Trichinella nativa infection in wild boar in Central Europe—molecular characterization of the parasite

The examination of wild boars gained in Poland shows for the first time occurrence of Trichinella nativa, freeze-resistant species of Trichinella in this host from the central Europe region. This finding is not only one of several cases of T. nativa invasion in wild boars all over the world but also one of the very few cases of T. nativa detected so far beyond the known boundary of occurrence of this species. The molecular characterization of discovered larvae based on analysis of partial genes: 5s rDNA-ISR and CO1 confirm the findings. Moreover, the analyzed DNA sequences of both genes present new haplotypes of T. nativa in comparison to that described previously.

     

Which Dimensions of Human Sexuality Are Related to Compulsive Sexual Behavior Disorder (CSBD)? Study Using a Multidimensional Sexuality Questionnaire on a Sample of Polish Males

IntroductionHuman sexuality is a multidimensional phenomenon related to several factors, such as self-esteem, awareness of sexual needs, and ability to communicate them to others.AimTo examine the sexual characteristics of patients seeking treatment for compulsive sexual behavior disorder (CSBD)—a clinical diagnosis recently included in the 11th edition of the International Classification of Diseases classification.MethodsWe have investigated the sexual characteristics of 72 Polish men seeking treatment for CSBD compared with 208 men from the Polish general population.Main Outcome MeasuresThe Multidimensional Sexual Questionnaire–PL was used to examine 12 sexual aspects of human sexuality. The severity of CSBD symptoms was assessed using Sexual Addiction Screening Test–PL, and the severity of problematic pornography use was measured by Brief Pornography Screener.ResultsResults show that CSBD patients (when compared with the general population) exhibit higher sexual anxiety, sexual depression, external sexual control, and fear of sexual relationship. Furthermore, CSBD severity is negatively related to sexual esteem, internal sexual control, sexual consciousness, sexual assertiveness, and sexual satisfaction.Clinical ImplicationsOur findings suggest that the impairment of the abovementioned dimensions warrant attention during clinical work and future studies on CSBD.Strengths & LimitationsThis study was limited to men, most of whom self-identified as heterosexual. Future research should include women and non-heterosexual identified individuals.ConclusionSexual esteem, consciousness, assertiveness, satisfaction and internal sexual control are commonly affected among CSBD individuals and should be properly addressed during the clinical interview and treatment intervention.Kowalewska E, Kraus SW, Lew-Starowicz M, et al. Which Dimensions of Human Sexuality Are Related to Compulsive Sexual Behavior Disorder (CSBD)? Study Using a Multidimensional Sexuality Questionnaire on a Sample of Polish Males. J Sex Med 2019;16:1264–1273.     

High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles

Biallelic loss‐of‐function mutations in SPG11 cause a wide spectrum of recessively inherited, neurodegenerative disorders including hereditary spastic paraplegia (HSP), amyotrophic lateral sclerosis, and Charcot‐Marie‐Tooth disease. By comprehensive screening of three large cohorts of HSP index patients, we identified 83 alleles with “small” mutations and 13 alleles that carry large genomic rearrangements. Including relevant data from previous studies, we estimate that copy number variants (CNVs) account for ～19% of pathogenic SPG11 alleles. The breakpoints for all novel and some previously reported CNVs were determined by long‐range PCR and sequencing. This revealed several Alu‐associated recombination hotspots. We also found evidence for additional mutational mechanisms, including for a two‐step event in which an Alu retrotransposition preceded the actual rearrangement. Apparently independent samples with identical breakpoints were analyzed by microsatellite PCRs. The resulting haplotypes suggested the existence of two rearrangement founder alleles. Our findings widen the spectra of mutations and mutational mechanisms in SPG11, underscore the pivotal role played by Alus, and are of high diagnostic relevance for a wide spectrum of clinical phenotypes including the most frequent form of recessive HSP.     

Prediction of eye color in the Slovenian population using the IrisPlex SNPs

Aim

To evaluate the accuracy of eye color prediction based on six IrisPlex single nucleotide polymorphisms (SNP) in a Slovenian population sample.

Methods

Six IrisPlex predictor SNPs (HERC2 – rs12913832, OCA2 – rs1800407, SLC45A2 – rs16891982 and TYR – rs1393350, SLC24A4 – rs12896399, and IRF4 – rs12203592) of 105 individuals were analyzed using single base extension approach and SNaPshot chemistry. The IrisPlex multinomial regression prediction model was used to infer eye color probabilities. The accuracy of the IrisPlex was assessed through the calculation of sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), and the area under the receiver characteristic operating curves (AUC).

Results

Blue eye color was observed in 44.7%, brown in 29.6%, and intermediate in 25.7% participants. Prediction accuracy expressed by the AUC was 0.966 for blue, 0.913 for brown, and 0.796 for intermediate eye color. Sensitivity was 93.6% for blue, 58.1% for brown, and 0% for intermediate eye color. Specificity was 93.1% for blue, 89.2% for brown, and 100% for intermediate eye color. PPV was 91.7% for blue and 69.2% for brown color. NPV was 94.7% for blue and 83.5% for brown eye color. These values indicate prediction accuracy comparable to that established in other studies.

Conclusion

Blue and brown eye color can be reliably predicted from DNA samples using only six polymorphisms, while intermediate eye color defies prediction, indicating that more research is needed to genetically predict the whole variation of eye color in humans.Prediction of human visible characteristics by genotyping informative polymorphisms in DNA opens up a new perspective in the forensic field. Multiple genes including HERC2, OCA2, MC1R, SLC24A5, SLC45A2, TYR, TYRP1, ASIP, SLC24A4, TPCN2, KITLG, and IRF4 have been associated with eye, hair, and skin color in European populations and they have been used in studies dealing with eye color prediction (1-14). Variation of iris color depends on the content of eumelanine, a brown light-absorbing biopolymer, which is present in higher concentrations in brown-eyed individuals (15,16). Although eye color is evidently a continuous variable, it has been often classified into three categories – blue, brown, and intermediate (4,14). Eye color variability is particularly striking in European populations, constituting a highly differentiating trait of potential use in forensic investigations (7,14,17). Recent studies have shown that a significant fraction of human iris color variation can be explained by polymorphisms within a single region in the human genome, comprising the evolutionary conserved HERC2 gene and the neighboring OCA2 gene located on the chromosome 15. It is assumed that the level of expression of the known pigmentation gene – OCA2 – is controlled by polymorphism rs12913832 on HERC2 locus (18,19). The remaining genes that have been shown to contribute to eye color variation are SLC24A4, SLC45A2, TYR, and IRF4 (4,20,21). However, their impact on eye color prediction is lower and it seems to vary between populations (8,14,22,23). Since such differences may potentially affect accuracy of prediction in various populations, we further addressed this issue and analyzed a population sample of individuals with defined eye color from Slovenia.Several prediction models have already been proposed to be useful in eye color prediction (4,8,9,17,23,24). Here we used six IrisPlex predictors, which were selected by Liu et al (4) from a larger set of polymorphisms potentially influencing pigmentation in humans and included into the IrisPlex prediction system (4,13,17). The IrisPlex prediction model is based on a multinomial logistic regression method and uses phenotype and genotype data from 3804 Dutch individuals. Based on these data the model gives three probabilities for blue, brown, and intermediate eye color (13). From the obtained probabilities, the most probable iris color is predicted based on recommendations given in Walsh et al (13).     

Matrix solid-phase dispersion (MSPD) in chromatographic analysis of essential oils in herbs

Matrix solid-phase dispersion (MSPD) is a simple and cheap sample preparation procedure allowing for the reduction of organic solvent consumption, exclusion of sample component degradation, improvement of extraction efficiency and selectivity, elimination of additional sample clean-up and pre-concentration step before chromatographic analysis.     

Identification of a new familial case of 3q29 deletion syndrome associated with cleft lip and palate via whole-exome sequencing

Many unbalanced large copy number variants reviewed in the paper are associated with syndromic orofacial clefts, including a 1.6 Mb deletion on chromosome 3q29. The current report presents a new family with this recurrent deletion identified via whole-exome sequencing and confirmed by array comparative genomic hybridization. The proband exhibited a more severe clinical phenotype than his affected mother, comprising right-sided cleft lip/alveolus and cleft palate, advanced dental caries, heart defect, hypospadias, psychomotor, and speech delay, and an intellectual disability. Data analysis from the 3q29 registry revealed that the 3q29 deletion increases the risk of clefting by nearly 30-fold. No additional rare and pathogenic nucleotide variants were identified that could explain the clefting phenotype and observed intrafamilial phenotypic heterogeneity. These data suggest that the 3q29 deletion may be the primary risk factor for clefting, with additional genomic variants located outside the coding sequences, methylation changes, or environmental exposure serving as modifiers of this risk. Additional studies, including whole-genome sequencing or methylation analyses, should be performed to identify genetic factors underlying the phenotypic variation associated with the recurrent 3q29 deletion.     

Inequalities in the psychological well-being of employed, single and partnered mothers: the role of psychosocial work quality and work-family conflict

Background  

A large body of international research reveals that single mothers experience poorer mental health than their partnered counterparts, with socioeconomic disadvantage identified as an important contributory factor in understanding this health disparity. Much less research, however, has focused specifically on the psychological well-being of single mothers who are employed, despite their growing presence in the labor force. Of the research which has considered employment, the focus has been on employment status per se rather than on other important work-related factors which may impact psychological health, such as psychosocial work quality and work-family conflict. The aim of this study was to: (1) compare employed single mothers and employed partnered mothers on measures of psychological distress, psychosocial work quality and work-family conflict; and (2) explore the potential role of work-family conflict and psychosocial work quality as explanations for any observed differences in psychological distress based on partner status.     

The height-, weight-, and BMI-for-age of Polish school-aged children and adolescents relative to international and local growth references

Background  

The growth of children is an indicator of health and society's wellbeing. Growth references are useful in monitoring a child's growth, which is a very important part of child care. Poland's growth references are not updated regularly. Although several growth reference ranges have been developed in Poland over recent years, sampling was restricted to urban populations of major cities. The aim of this study was to assess how well Polish children match with, or diverge from, regional charts and to compare them with international growth references.     

Biopharmaceutical assessment of eye drops containing aloe (Aloe arborescens Mill.) and neomycin sulphate

The subject of the studies was eye drops made of aloe, containing the group of aloe chemical substances of anti-inflammatory use and neomycin sulphate. The aim of the studies was to evaluate the permeability of biologically active aloe substances, determined as aloenin, through synthetic lipophilic and hydrophilic membranes in a standard perfusion apparatus and in vitro verification of the transport possibilities of these substances through the isolated cornea of pig's eye. The permeability process of biologically active aloe substances determined as aloenin, through synthetic lipophilic and hydrophilic membranes, was analyzed using the first-order kinetics. Estimated quotas of permeability rate constant show that the investigated chemical compounds of aloe, included in the eye drops, diffused through the applied membranes. The studies of permeability through isolated pig's cornea proved that biologically active aloe substances could not overcome this biological barrier. On the basis of biopharmaceutical studies it can be concluded that the eye drops containing aloe and neomycin sulphate, due to the lack of permeating abilities through the eye cornea, should be particularly useful in the treatment of inflammations and infections of external parts of the eye, such as conjuctiva, eyelid edges, lacrimal sac and cornea.