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Prevalence and genotypic distribution of non-epidermolytic ichthyosis in Italian Golden Retrievers

by Maria Grazia De Iorio, Michele Polli, Sara Ghilardi, Stefano Frattini, Mara Bagardi, Alessandra Paganelli, Maria Cristina Cozzi, Kenza Seghrouchni, Paola Giuseppina Brambilla, Giulietta Minozzi

Non-epidermolytic ichthyosis (NEI) is a hereditary skin disorder affecting several dog breeds, most notably the Golden Retriever. It is primarily caused by a loss-of-function variant in the PNPLA1 gene, while a second, less common form is associated with a deletion in the ABHD5 gene. This retrospective study aimed to assess the prevalence and temporal trends of both mutations in Golden Retrievers tested in Italy between 2017 and September 2025. A total of 508 genetic tests were analyzed, including 463 dogs tested for the PNPLA1 mutation, 42 for the ABHD5 deletion, and 3 for both variants. DNA was extracted from blood or buccal samples and analyzed by real-time PCR followed by confirmatory Sanger sequencing. Among the PNPLA1 tested dogs, 42% were clears (wt/wt), 37% carriers (wt/mut), and 21% affected (mut/mut), with calculated allele frequencies of 60% wild-type and 40% mutant. A significant temporal decline in mutant allele frequency was observed, accompanied by an increasing number of animals tested over time, suggesting growing interest in genetic screening and its impact on selective breeding. Conversely, all dogs tested for the ABHD5 deletion were wild-type, supporting its rarity in the breed. Overall, these findings confirm that PNPLA1-related ichthyosis remains one of the most prevalent hereditary disorders in Golden Retrievers, although its frequency is decreasing. The results emphasize the effectiveness of genetic testing in disease prevention and highlight the importance of continued monitoring to maintain genetic health within the breed.

Monitoring the health of wolves (<i>Canis lupus</i>): Integrating conservation and public health

by Elisabetta Ferraro, Graziana Da Rold, Roberto Celva, Elisa Dalla Libera, Stefania Leopardi, Giulia Simonato, Paola De Benedictis, Nadia Cappai, Arianna Dissegna, Carlo Vittorio Citterio, Rudi Cassini, Federica Obber

The grey wolf (Canis lupus) population is expanding in parts of Europe due to legal protection and favorable ecological conditions. As wolves increasingly move into urban and suburban areas, interactions with domestic dogs become more frequent, raising the risk of pathogen transmission and posing potential threats to both wolf conservation and public health. This study investigated the health status of wolves in the Foreste Casentinesi National Park (Italy) using non-invasive fecal sampling conducted between May 2019 and March 2020. Samples were genetically analyzed to identify individuals and then screened for viral pathogens, Canine Coronavirus and Parvovirus, using PCR, Sanger sequencing, and phylogenetic analysis. Parasitological examinations were performed using flotation techniques on whole samples, and real-time PCR targeting Echinococcus granulosus and E. multilocularis was conducted on selected samples. Of the 260 samples collected, genetic analysis identified 80 individual wolves belonging to 8 packs. Only one sample tested positive for Coronavirus (1.2%), and none for Parvovirus. The detected sequence clustered with strains previously reported in wolves and foxes in Italy. Copromicroscopy revealed a high prevalence of veterinary-relevant endoparasites, including Eucoleus spp. (90.0%), Sarcocystis spp. (42.5%), Taeniids (28.7%), and Ancylostomatids (26.2%). Trichuris vulpis, Toxocara canis, and coccidia showed prevalence rates below 2%. All 104 samples tested for E. granulosus or E. multilocularis were negative. These findings suggest that while wolves in the FCNP commonly harbor several canine parasites, their role in the transmission of zoonotic pathogens appears limited. Although phylogenetic data suggest that coronavirus strains tend to cluster within wildlife species, molecular data on domestic dogs remain scarce. Nonetheless, the high prevalence of shared parasites highlights the need for ongoing surveillance in both wild canids and domestic carnivores. As wolves increasingly inhabit human-dominated landscapes, understanding disease dynamics at the wildlife–domestic interface is essential for effective conservation and public health strategies.

Dyadic Patterns of Patient and Caregiver Engagement in Type 2 Diabetes Mellitus Care: A Multicenter Observational Study

ABSTRACT

Aim

To identify patterns of dyadic engagement in type 2 diabetes care, describe their characteristics, and explore their association with glycated haemoglobin.

Background

In chronic conditions, patient self-care and caregiver contribution should be considered a dyadic phenomenon. However, patterns of dyadic engagement in type 2 diabetes care have not yet been identified.

Design

Multicentre observational cross-sectional study.

Methods

Patient self-care and caregiver contribution were assessed using the Self-Care of Diabetes Inventory and the Caregiver Contribution to Self-Care of Diabetes Inventory. Patterns of dyadic engagement in type 2 diabetes care were identified by latent class analysis. Associations between patient-caregiver characteristics and class membership were estimated using multinomial regression. The association between classes and glycated haemoglobin levels was assessed using linear regression.

Results

251 dyads of patients with type 2 diabetes and their primary informal caregivers were enrolled. Patients were mostly male (55%, median age 72) and caregivers mostly female (71%, median age 64). Three patterns of dyadic engagement were identified: ‘equally engaged-low care’ (14%), ‘mostly patient engaged-middling care’ (25%), and ‘equally engaged-high care’ (61%). Patient characteristics (sex, education, self-efficacy) and caregiver characteristics (burden, chronic diseases) were associated with pattern membership. Membership in the ‘mostly patient engaged-middling care’ and ‘equally engaged-high care’ patterns was associated with decreased glycated haemoglobin compared to ‘equally engaged-low care’.

Conclusion

The three identified patterns of dyadic engagement in type 2 diabetes showed differences in patient and caregiver characteristics and were associated with glycated haemoglobin.

Impact

The study identified and described patterns of dyadic engagement in type 2 diabetes care. The three identified patterns showed differences in characteristics and in patient glycemic control. Healthcare professionals should consider these patterns for tailoring interventions focused on both dyad members.

Reporting Method

STROBE checklist was followed.

Patient Contribution

Patients and their informal caregivers were recruited to participate in the study.

Association between prenatal Zika virus exposure and neurodevelopmental outcomes in offspring: a protocol for a systematic review and meta-analysis of observational studies

Por: Nagata · A. · Swe · T. M. · Iwabuchi · T. · Haque · M. · Razia · S. · Tsuchiya · K. J. · Senju · A. · Rahman · M. S.
Introduction

Zika virus (ZIKV) infection during pregnancy has been associated with adverse birth outcomes, including congenital Zika syndrome, characterised by features such as microcephaly. However, the broader neurodevelopmental influence of prenatal ZIKV exposure, especially among offspring without congenital anomalies at birth, remains poorly understood. While previous studies, including a review, have explored neurodevelopment in ZIKV-exposed children, comparative pooled estimates between exposed and unexposed groups remain scarce. This systematic review and meta-analysis aims to evaluate the association between prenatal ZIKV exposure and neurodevelopmental outcomes in offspring without congenital anomalies at birth, using data from observational studies with defined control groups.

Methods and analysis

We will systematically search multiple databases, including PubMed, EMBASE, Scopus, CINAHL, PsycINFO, Cochrane Library and Web of Science, alongside grey literature sources such as Google Scholar and conference proceedings. Eligible studies will include observational designs (cohort and case-control) comparing neurodevelopmental outcomes between children with and without prenatal ZIKV exposure. Primary outcomes will include gross motor, fine motor, communication, problem-solving, social-emotional and cognitive development assessed with validated tools. Three reviewers will independently screen studies, extract data and assess methodological quality using the Newcastle-Ottawa Scale and the Grading of Recommendations, Assessment, Development and Evaluation approach. A meta-analysis will be conducted where appropriate, with heterogeneity assessed using the I² statistic and further explored through subgroup and meta-regression analyses.

Ethics and dissemination

Ethical approval is not required, as the study involves secondary analysis of publicly available data. Findings will be disseminated through peer-reviewed publications and conference presentations.

PROSPERO registration number

CRD420251011184.

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