Archivio Istituzionale della Ricerca- Università degli Studi di Foggia
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A prime editing strategy to rewrite the γ-globin promoters and reactivate fetal hemoglobin for sickle cell disease
No full text: Fetal hemoglobin (HbF) reactivation is a promising therapy for β-hemoglobinopathies. We developed a prime-editing strategy that introduces multiple mutations in the fetal γ-globin promoters that are expected to increase their activity. We tested multiple targets and optimized a variety of parameters to achieve ~50% of precise edits in a hematopoietic cell line, with minimal off-targets effects. This work improved our understanding of the complex DNA repair mechanisms involved in prime editing. We tested this strategy in patients' hematopoietic stem/progenitor cells (HSPCs). Although the editing efficiency was variable amongst donors, erythroid clones carrying multiple mutations express a significantly higher γ-globin level compared to cells carrying individual mutations, confirming the potential therapeutic benefit of our combined strategy for patients with β-hemoglobinopathies
Toxoplasma gondii infection in goats in Pakistan: risk factors and public health significance
No full textBackground
Toxoplasma gondii is an intracellular protozoan parasite infecting warm-blooded animals,
including humans. Infection can be associated with fetal mortality and a spectrum of other
symptoms. Infection in humans mainly occurs through ingesting undercooked or raw animal
products (meat and potentially milk) from infected animals, harbouring cysts or tachyzoites, or
water or raw fresh produce contaminated with oocysts shed in feline feces.
The South Punjab, Pakistan hosts intensive caprine population for meat and milk production,
where goats are bred in very poor conditions, with unknown abortion history and milk is consumed
raw. This study aimed to investigate the seroprevalence, risk factors, molecular detection, and
genotyping of T. gondii in goats from an unexplored study area (Layyah District).
Material and methods
The prevalence of T. gondii infection was estimated using a two-stage sample design. All caprine
farms in the study area were stratified by size, and from these 110 were randomly selected. Twelve
goats (>1-year-old) were selected from each farm and a total of 1320 serum samples were collected
and tested by ELISA. A questionnaire on the conditions and management practices of each farm
was administered to 110 farmers. For molecular study, from three farms, previously identified
highly seropositive, milk samples were collected from 40 goats at three different lactation
intervals: 15-30, 90, and >120 days after parturition (360 samples in total). Foetal brain and
placenta tissue samples were also collected from three aborted goats. A 162 bp fragment of the
529-bp repeat element was used to detect Toxoplasma DNA by real-time PCR. Positive samples
were further genotyped using nested-PCR targeting four genetic markers (GRA6, SAG1, 5’-
SAG2, CS3).
Results
Four hundred and sixteen out of 1320 sera samples (31.5%) were found positive and 89% of the
flock had at least one seropositive goat. The proportion of seropositive goats tested within each
flock ranged from 8.3% to 83.3%. with several factors contributing to this heterogeneity. Goat age
played a significant role in the presence of cats. Significant interactions were related to goat farms
having floor of dirt and kitten presence. Moreover, age class, abortion history and water source
supply were modulated by owner education levels. T. gondii DNA was detected in 14 milk samples
(3.9%), with higher detection in samples >120 days lactation stage (6.7%). Farm-wise detection
was 5.8%, 2.5%, and 3.3%. All aborted tissues were positive, except one foetal brain tissue
(83.3%). DNA isolates revealed type II in all samples, except one milk sample, and four aborted
tissues, with either type I or III.
Conclusions
This is the first and most extensive study in Pakistan to report both serological and molecular
prevalence of T. gondii in goats, including genotype analysis from milk. The findings highlight a
significant public health risk and reproductive impact on goat herds, underscoring the need for
improved farm hygiene, water management, and education-based control strategies
Ellipsoid zone reflectivity changes after idiopathic epiretinal membrane peeling: a pilot study
No full textObjective: This pilot study aimed to evaluate changes in ellipsoid zone (EZ) reflectivity and best-corrected visual acuity (BCVA) following epiretinal membrane (ERM) peeling surgery in patients with stage 2 and 3 ERM. Methods: Thirty-five patients with stage 2 and 3 ERM underwent surgical intervention. Preoperative and three-month postoperative measurements of BCVA and EZ reflectivity were taken using spectral-domain optical coherence tomography (SD-OCT). The correlation between changes in BCVA and EZ reflectivity was analyzed. Results: BCVA significantly improved from baseline (0.67 ± 0.23 LogMAR) to three months post-surgery (0.20 ± 0.20 LogMAR) (p < 0.0001). EZ reflectivity also showed a significant increase from baseline (0.62 ± 0.18) to the follow-up visit (0.99 ± 0.30) (p < 0.0001). A significant negative correlation was observed between BCVA (logMAR) and EZ reflectivity (r = - 0.758, p = 0.001). Conclusions: This pilot study provides preliminary evidence that EZ reflectivity correlates with visual recovery after ERM peeling surgery and suggests potential utility as a biomarker for assessing photoreceptor health. Despite the small sample size, the significant correlation between improved BCVA and increased EZ reflectivity warrants further investigation in larger, longitudinal studies
GENDER STEREOTYPES AND LINGUISTIC VARIATIONS IN THE CLINICAL DESCRIPTION OF MENTAL HEALTH: A STUDY OF MEDICAL RECORDS FROM THE PSYCHIATRIC HOSPITAL OF GIRIFALCO (ITALY)
No full textHunter-Schreger Bands: Clinical Implications and Future Directions, Scoping Review
No full textThis scoping review aims to examine and identify the potential clinical implications and future research directions concerning Hunter–Schreger bands (HSBs) through an analysis of the scientific medical literature. The scoping review was conducted following the PRISMA Extension for Scoping Reviews (PRISMA-ScR) guidelines, utilising electronic databases such as PubMed, Scopus, the Cochrane Central Register of Trials and ScienceDirect, employing keyword combinations for database search. During the selection process, 327 records were identified, of which only 10 studies fully met the inclusion criteria and were included in the review. The extracted data were summarised in tables. Current evidence suggests that HSB play a crucial role in strengthening enamel by dissipating energy and preventing crack propagation. The use of imaging technologies, optical microscopy and diffraction studies has enabled a detailed characterisation of their structure, distribution and function, opening new avenues for future diagnostic and therapeutic applications in dentistry. However, the predominance of in vitro studies highlights the need for further in vivo clinical research to confirm and translate these findings into innovative dental practices
LCA exercise on different packages for cherry tomatoes. Effect of considering packaging performance regarding air ventilation
No full textUn decennio di cambiamenti nella cardiochirurgia convenzionata italiana: analisi geografica e di genere
No full textBackground. Numerous speculations have been made in recent years about the future of cardiac surgery, seen by some as an “obsolete” discipline and reserved for complex/emerging cases. Methods. From the central database of the private-affiliated group GVM Care & Research with the National Health System, data from 2014 to 2023 relating to elective cardiac surgery (57736 patients) were extracted from 12 cardiac surgery centers located throughout the country, with specific reference to isolated coronary and valvular surgery. Results. The number of elective interventions performed from 2014 to 2023 has progressively increased with a slowdown in 2020 caused by the COVID-19 pandemic. The increase in the number of interventions is mainly linked to an increase in interventions in central-southern Italy which, starting from 2016, has led to equalizing the data in the two geographical areas. Women, throughout the country, have a higher average age at surgery than men and a higher surgical risk than men, especially if operated in northern Italy. Coronary artery bypass grafting has increased especially in southern Italy, and remains more frequent in males throughout the country. As for isolated valve interventions, there has been an increase in the total number, more significant in central and southern Italy, and a significant increase in the use of biological prostheses. Thirty-day mortality has not undergone significant changes in the last 10 years. Conclusions. Our results demonstrate that cardiac surgery is a specialty that has not reduced its activity over the years in the elective field despite a significant transformation of the branch with a shift towards transcatheter approaches. The observation of a possible diagnostic delay (and consequently of intervention) in the female sex remains, with an increase in the predicted risk in women
