Recurrent Non-Hodgkin’s lymphoma in the uterine cervix: a case report and a review of the literature

Background. Lymphomas are a heterogeneous group of malignant lymphoproliferative diseases. As primary localization, the most common histological subtype of female genital lymphomas is a Non-Hodgkin Lymphoma (NHL), the diffuse large B-cell type. However cervical relapse of NHL is a very rare condition (0.3%). Case presentation. A 42-year-old Peruvian woman experienced relapse of NHL with uterine localization. She complained at first of abnormal vaginal bleeding and stranguria. The cervical biopsy performed showed a diffuse large B-cell lymphoma in the uterine cervix. The lack of clinical studies on this topic and its rarity make this type of recurrence very difficult to treat. Conclusions. In case of a woman with vaginal bleeding and history of NHL, a disease relapse should always be considered, and a biopsy should be performed to confirm the diagnosis. © 2023, EDRA S.p.A. All rights reserved

Oral manifestations in a boy with X-linked reticulate pigmentary disorder

X-linked reticulate pigmentary disorder (XLPDR) is a rare, multi-systemic disease with only a limited number of families described in the literature. XLPDR has a genetic origin and the gene has been mapped to Zp22p21. Dental features resemble those of hypohidrotic ectodermal dysplasia. A case of a 3-years-old boy is described

Oral manifestation of Goltz-Gorlin syndrome in a young girl

Introduction Focal dermal hypoplasia (Goltz-Gorlin syndrome) is a multi-system disorder characterized by involvement of skin, skeletal system, eyes and face. It is caused by loss-of-function mutations in the PORCN gene. We report the case of a young female, focusing on the dental features. Aim To describe the oral manifestation of a rare disorder that resembles ectodermal dysplasia (ED). Case report Clinical, radiological and genetic findings revealed common features of Goltz-Gorlin syndrome and pure ED. Oro-dental characteristics of the patient mostly corresponded to those described in the literature. However, previously unreported oro-dental findings such as taurodontism, peg-shaped teeth and microdontia are considered unusual for Goltz-Gorlin syndrome, but similar to the dental features of hypohidrotic ED. Clinical characterization of the patient by a multidisciplinary approach is described and a comprehensive review of the literature is presented

Effect of the irrigation method and genotype on the bioaccumulation of toxic and trace elements in rice

The total concentration of three toxic elements (As, Cd and Pb) and five oligoelements (Cu, Mn, Mo, Ni and Se) has been determined using an original and completely validated ICP-MS method. This was applied to rice grains from 26 different genotypes cultivated in the same soil and irrigated with the same water in three different ways: by the traditional continuous flooding (CF) and by two intermittent methods, the sprinkler irrigation (SP) and the periodical saturation of the soil (SA). The adoption of SP hugely minimizes the average amounts of almost all elements in kernels (−98% for As, −90% for Se and Mn, −60% for Mo, −50% for Cd and Pb), with the only exception of Ni, whose concentration increases the average amount found in the CF rice by 7.5 times. Also SA irrigation is able to reduce the amounts of As, Mo and Pb in kernels but it significantly increases the amounts of Mn, Ni and – mainly - Cd. Also the nature of the genotype determined a wide variability of data within each irrigation method. Genotypes belonging to Indica subspecies are the best bioaccumulators of elements in both CF and SP methods and, never, the worst bioaccumulators for any element/irrigation method combination. In the principal component analysis, PC1 can differentiate samples irrigated by SP by those irrigated by CF and SA, whereas PC2 provides differentiation of CF samples by SA samples. When looking at the loading plot Ni is negatively correlated to the majority of the other elements, except Cu and Cd having negative loadings on PC2. These results allow to envisage that a proper combination of the irrigation method and the nature of rice genotype might be a very valuable tool in order to successfully achieve specific objectives of food safety or the attainment of functional properties

Effects of Dietary Zn/Se and α-Tocopherol Supplementation on Metabolic Milieu, Haemogram and Semen Traits of Breeding Stallions

Trace element status and metabolic milieu are sometimes overlooked in common veterinary clinical practice across animal species. The evaluation of requirements of trace elements, in fact, may be useful to prevent the perturbation of tissue-specific metabolic impair. In particular, essential trace elements in the diet play key roles within sub-cellular metabolic patterns with macro effects at the systemic level, like blood cell stability and semen quality. This effect was studied in breeding stallions, in which semen quality and haemogram are important for reproduction. A case-control feeding trial involved 40 stallions (age: 8–21 years; body weight, BW: 510–531 kg) of one stud centre, allotted to two experimental groups (n = 20 control, CON vs. n = 20 supplemented, SUPPL100), following a matched-pairs approach based on age. Supplemented stallions (SUPPL100) received a mixed mineral and vitamin supplement of Zn/Se and α-tocopherol (α-TOH) (100 g/day stallion) to compound feed, fed as control diet to horses of the control group (CON). Horses resulted deficient in circulating α-TOH and Zn at the start, though clinically healthy. After supplementation, different plasmatic levels of α-TOH, Zn and Se were found between groups. Circulating basophils (BASO) and mean cell haemoglobin concentration (MCHC) were affected by the dietary treatment (p < 0.05). Plasmatic Se affected monocyte count, haematocrit, mean cell volume and mean cell haemoglobin concentration. Semen traits were not affected by the dietary treatment per se, except for mobile/progressive sperm cells (%) of stallions aged > 13 years marginal circulating levels of α-TOH (p = 0.04). Ameliorating the micromineral status showed to improve the haemogram of stallions in view of circulating levels of Cu. Semen quality appeared to be strongly dependent on animal effects

Comprehensive Evaluation of Plasma 7-Ketocholesterol and Cholestan-3β,5α,6β-Triol in an Italian Cohort of Patients Affected by Niemann-Pick Disease due to NPC1 and SMPD1 Mutations

: Niemann-Pick C disease (NPCD) is a rare autosomal recessive neurovisceral disorder with a heterogeneous clinical presentation. Cholestan-3β,5α,6β-triol and 7-ketocholesterol have been proposed as biomarkers for the screening of NPCD. In this work, we assessed oxysterols levels in a cohort of Italian patients affected by NPCD and analyzed the obtained results in the context of the clinical, biochemical and molecular data. In addition, a group of patients affected by Niemann-Pick B disease (NPBD) were also analyzed. NPC patients presented levels of both oxysterols way above the cut off value, except for 5 siblings presenting the variant biochemical phenotype who displayed levels of 3β,5α,6β-triol below or just above the cut-off value; 2 of them presented also normal levels of 7-KC. Both oxysterols were extremely high in a patient presenting the neonatal systemic lethal phenotype. All NPB patients showed increased oxysterols levels. In conclusion, the reported LC-MS/MS assay provides a robust non-invasive screening tool for NPCD. However, false negative results can be obtained in patients expressing the variant biochemical phenotype. These data strengthen the concept that the results should always be interpreted in the context of the patients' clinical picture and filipin staining and/or genetic studies might still be undertaken in patients with normal levels of oxysterols if symptoms are highly suggestive of NPCD. Both oxysterols are significantly elevated in NPB patients; thus a differential diagnosis should always be performed in patients presenting isolated hepatosplenomegaly, a common clinical sign of both NPCD and NPBD

Structured activity and multiple group memberships as mechanisms of increased depression among young people not in employment, education or training

Aims Young people Not in Employment, Education and Training (NEET) are at increased risk of depression, yet mechanisms of this association are poorly understood. We hypothesised that being NEET has both behavioural and social identity consequences and that reductions in structured activity and multiple group memberships underlie increased depression in this group. Our purpose was to assess first whether depression was greater for NEET compared to non‐NEET young people from the same geographical locality, and secondly, whether a loss of structured activity leading to a reduction in multiple group memberships explains the NEET‐depression association. Methods The present study was a cross‐sectional between‐groups design using convenience sampling. Measures of depression, structured activity and multiple group memberships were obtained from 45 NEET young people and 190 university students (non‐NEET). Results The NEET group reported significantly more depression symptoms compared to the non‐NEET student control group. A path model specifying NEET status as a predictor of depression, with this association mediated by a reduction in structured activity and fewer multiple group memberships (standardised indirect = 0.03, unstandardised indirect = 0.62, P = 0.052, 95% bias corrected confidence intervals [0.21,1.44]), provided excellent fit to our data: χ2(3) = 0.26, P = 0.968, comparative fit index (CFI) = 1.00, root mean square error of approximation (RMSEA)<0.01, standardized root mean square residual (SRMR) = 0.01). Conclusions Our findings suggest that depression is elevated amongst NEET young people compared to non‐NEET students from the same locality. The association between NEET status and depression was partially mediated by reduced structured activity and its association with reduced multiple group memberships. Although using cross‐sectional data, our findings suggest social interventions may be a key resource in ameliorating depression amongst NEET young people; through preserving engagement in structured activity and the wellbeing benefits derived from arising multiple group memberships. Methods: The present study was a cross-sectional between-groups design using convenience sampling. Measures of depression, structured activity and multiple group memberships were obtained from 45 ‘NEET’ young people and 190 university students (Non-‘NEET’). Results: The NEET group reported significantly more depression symptoms compared to the Non-NEET student control group. A path model specifying NEET status as a predictor of depression, with this association mediated by a reduction in structured activity and fewer multiple group memberships (standardised indirect = 0.03, unstandardised indirect= 0.62, p= .052, 95% Bias Corrected CIs [0.21; 1.44]), provided excellent fit to our data χ2(3)= 0.26, p= .968, CFI= 1.00, RMSEA< .01, SRMR= .01, AIC= 2,792.75, BIC= 2,818.20). Conclusions: Our findings suggest depression is elevated amongst NEET young people compared to Non-NEET students from the same locality. The association between NEET status and depression was partially mediated by reduced structured activity and its association with reduced multiple group memberships. Although cross-sectional, our findings suggest social interventions may be a key resource in ameliorating depression amongst NEET young people; through preserving engagement in structured activity and the wellbeing benefits derived from arising multiple group memberships