Explore the vast range of titles available.

Background and Clinical Significance: Neural tube defects (NTDs) represent a group of malformations, typically arising from a complex interplay between genetic susceptibility and environmental influences. Increasing evidence points to the contribution of rare pathogenic variants in genes involved in embryonic development in selected cases. To date, two families with NTDs carrying biallelic variants in TRIM36 and NUAK2 have been described. Specifically, germline homozygous pathogenic variants in NUAK2 were identified in three fetuses with anencephaly, thus implicating this gene as a critical regulator of neural tube closure. Case Presentation: We describe a family in which five individuals presented with sacral dimples, a subtle midline defect considered a minor malformation. Exome sequencing revealed a heterozygous missense variant, c.487G>A in NUAK2, segregating with the phenotype. Although sacral dimples are often clinically silent and do not typically cause functional impairment, their presence in multiple relatives highlights a possible shared genetic etiology. Careful phenotypic recognition of such findings can therefore provide valuable insights into underlying molecular mechanisms. Conclusions: This report extends the clinical spectrum of NUAK2-related anomalies by demonstrating a novel genotype–phenotype correlation. Our findings suggest that variants in this gene may follow a semi-dominant inheritance pattern, with heterozygous carriers manifesting milder phenotypes, such as sacral dimples, while biallelic pathogenic variants lead to severe NTDs. This observation reinforces the association between NUAK2 loss-of-function variants and NTDs and emphasizes the importance of genetic investigations in families where such dysmorphic traits recur. Ultimately, these results contribute to clarifying the molecular basis of NTDs and may inform both genetic counseling and risk stratification in affected families.

Priming is basically a water-based technique inducing controlled seed rehydration to trigger the metabolic processes normally activated during the early phase of germination. It is regarded as an ecofriendly approach alternative to fertilizers in traditional agriculture, but also a method to synchronize off-field crops and resume stored seeds, improving vigor, and allowing for a rapid, uniform seedling emergence. In this work we tested several methods of seed priming ( i.e ., hydro-priming, halopriming by KNO 3 , and acid priming with HCl) in four ancient and neglected cultivars of Capsicum annuum L., a crop species belonging to Solanaceae family cultivated worldwide. We followed germination performance, seedling growth and selected morphological traits, antioxidant production in the leaves, and protein content of the seeds. Apart from acid priming, which inhibited root emergence, both hydropriming and halopriming decreased the mean germination time in all cultivars. The best treatments were KNO 3 6% for 96 h > KNO 3 4% for 48 h > hydropriming for 24 h. In particular, KNO 3 6% for 96 h in all four cultivars significantly increased plant growth, simple vigor index, development germination index, leaf antioxidant concentration and protein content in the seeds, in comparison to control and other priming treatments, indicating the prompt activation of pre-germinative processes.

Calcifications of muscular origin are rare findings in dental panoramic radiographs and can pose diagnostic challenges if not properly identified. This case report describes the incidental discovery of bilateral calcifications within the sternocleidomastoid (SCM) muscle on a routine dental panoramic radiograph. A comprehensive differential diagnosis was considered, including trauma, inflammation, metabolic disorders, and idiopathic conditions. The absence of systemic disorders or recent trauma supported a diagnosis of dystrophic calcifications of the SCM muscle. This case underscores the importance of evaluating anatomical structures beyond the dental and bony regions in panoramic radiography to avoid misdiagnosis.

Purpose To investigate the clinical impact of three available antivirals for early COVID-19 treatment in a large real-life cohort. Methods Between January and October 2022 all outpatients tested positive for SARS-CoV-2 referring to IRCCS S. Orsola hospital treated with an early antiviral therapy were enrolled. A comparison between patients treated with nirmatrelvir/ritonavir (NTV/r), molnupiravir (MPV) and remdesivir (RDV) was conducted in term of indications and outcome. To account for differences between treatment groups a propensity score analysis was performed. After estimating the weights, we fitted a survey-weighted Cox regression model with inverse-probability weighting with hospital admission/death versus clinical recovery as the primary outcome. Results Overall 1342 patients were enrolled, 775 (57.8%), 360 (26.8%) and 207 (15.4%) in MPV, NTV/r and RDV group, respectively. Median age was 73 (59–82) years, male sex was 53.4%. Primary indication was immunosuppression (438, 32.6%), the median time from symptom onset to drug administration was 3 [ 2 , 3 – 4 ] days. Overall, clinical recovery was reached in 96.9% of patients, with hospital admission rate of 2.6%. No significant differences were found in clinical recovery nor hospitalization. Cox regression showed a decreased probability of hospital admission/ death among prior vaccinated patients compared with unvaccinated (HR 0.31 [95%CI 0.14–0.70], p = 0.005]). No difference in hospitalization rates in early treatment compared to late treatment were found. Conclusions No differences among MPV, NTV/r and RDV in terms of clinical recovery or hospitalization were found. Patients not vaccinated had a significant increased risk of hospitalization.

High-grade gliomas are the main cause of death in children with brain tumours. Despite recent advances in cancer therapy, their prognosis remains poor and the treatment is still challenging. To date, surgery followed by radiotherapy and temozolomide is the standard therapy. However, increasing knowledge of glioma biology is starting to impact drug development towards targeted therapies. The identification of agents directed against molecular targets aims at going beyond the traditional therapeutic approach in order to develop a personalized therapy and improve the outcome of pediatric high-grade gliomas. In this paper, we critically review the literature regarding the genetic abnormalities implicated in the pathogenesis of pediatric malignant gliomas and the current development of molecularly targeted therapies. In particular, we analyse the impact of molecular biology on the prognosis and treatment of pediatric high-grade glioma, comparing it to that of adult gliomas.

Mulching is a common practice for improving crop yield and obtaining an out-of-season production, but when made using plastic materials it can bring environmental problems due to the management and the disposal of films at the end of the cropping seasons. To increase the sustainability of this practice, recently, mulching films made with biodegradable organic materials have become more widely used. Our aim was to evaluate the effect of a biodegradable mulching film on yield and qualitative traits of the San Marzano tomato fruits over two years (2014 and 2015). Two different types of mulching were tested: (i) black biodegradable film (MB12) and (ii) black low-density polyethylene (LDPE) were compared to bare soil (BS). Both mulching films elicited a 25% increase in yield, mainly due to the significantly higher number of fruits per square meter, compared to BS. Both mulching films also elicited a 9.9% increase in total soluble solids and a 57% increase in carotenoid content, while firmness showed the highest value in BS fruits. MB12 determined the highest value of the Hunter color ratio a/b of tomato fruits, followed by LDPE, while the lowest value was recorded in BS fruits. Both mulching films elicited an increase of 9.6%, 26.0%, and 11.7% for flavonoids, polyphenols, and AsA, respectively. In 2014, the MB12 degradation started at 71 days after transplant (DAT); in 2015, at 104 DAT. Therefore, replacing polyethylene with biodegradable film would seem to be an agronomically efficient and environmentally sustainable practice.

Bioactive compounds of different Campania native sweet pepper varieties were evaluated. Polyphenols ranged between 1.37 mmol g−1 and 3.42 mmol g−1, β-carotene was abundant in the red variety “Cazzone” (7.05 μg g−1). Yellow and red varieties showed a content of ascorbic acid not inferior to 0.82 mg g−1, while in some green varieties the presence of ascorbic acid was almost inconsistent. Interrelationships between the parameters analyzed and the varieties showed that ascorbic acid could represent the factor mostly influencing the antioxidant activity. Polyphenol profile was different among the varieties, with a general prevalence of acidic phenols in yellow varieties and of flavonoids in red varieties. Principal Component Analysis, applied to ascorbic acid, total polyphenols and β-carotene, revealed that two of the green varieties (“Friariello napoletano” and “Friariello Sigaretta”) were well clustered and that the yellow variety “Corno di capra” showed similarity with the green varieties, in particular with “Friariello Nocerese”. This was confirmed by the interrelationships applied to polyphenol composition, which let us to light on a clustering of several red and yellow varieties, and that mainly the yellow ”Corno di capra” was closer to the green varieties of “Friariello”.

The aim of the present study is to investigate the effect of differently colored low-density polyethylene mulching films (black, silver/brown, and yellow/brown) in comparison with bare soil (BS) on soil temperatures, yield and yield components (number of fruit and average fruit weight), and fruit quality traits (color, firmness, total soluble solids content, polyphenols, flavonoids, ascorbic acid, carotenoids, and antioxidant activity) of a ‘San Marzano’ tomato crop grown in Southern Italy over two years (2014 and 2015). The warmer season (2015) shortened the cropping cycle (124 vs. 178 days, 2015 vs. 2014), thereby accelerating fruit ripening and improving firmness and redness (on average, the color parameter a/b was greater than in 2014). It determined the best yield response (53 vs. 44 Mg ha−1) by increasing the number of commercial fruits per unit land area despite the lower average fresh weight (AFW) than the first year. Regardless of the different plastic films, in both years, soil heat storage produced by mulching improved yield as compared to BS and showed a positive and significant effect on the contents of total soluble solids, polyphenols, flavonoids, and carotenoids without affecting the antioxidant activity. The highest values of quality traits were reached in the second year with silver and yellow mulches. Therefore, since the colored mulching films (yellow and silver) had a contradictory effect on yield and quality in the two years, further investigation is desirable.

Our study aimed to analyze some qualitative aspects of five landraces of the tomato “Piennolo,” typical of the Vesuvian area, Italy, and determine the in vitro antioxidant activity. All samples showed a high °Brix value and acidity, as well as a discrete amount of reducing sugars, indicating their good quality as fresh products. They showed a high content of lycopene (up to 218 μg g−1 of fresh product) and ascorbic acid (up to 238 μg g−1 of fresh product). The content of total polyphenols was never less than 278 μg g−1 of fresh product. Hyperoside, chlorogenic and gallic acids were the most abundant polyphenols. The interrelationships between the parameters analyzed and the different landraces showed that total polyphenols could have mostly affected (ρ = 0.76) the antioxidant activity more than lycopene (ρ = −0.96). The interrelationships between the most abundant polyphenols and antioxidant activity showed that hyperoside, although the most abundant, negatively affected (ρ = −0.93) the antioxidant activity. Due to the high content of lycopene, ascorbic acid, and hyperoside, the five landraces of the tomato “Piennolo” could be considered promising in terms of their potential healthy characteristics.

Hemophagocytic lymphohistiocytosis is a potentially fatal disorder resulting from excessive activation and non-malignant proliferation of T lymphocytes and macrophages. Neoplasms, autoimmune disorders and systemic infections can cause secondary hemophagocytic syndrome. The association of hemophagocytic syndrome and visceral leishmaniasis is rarely found in childhood.  We report a case of an infant affected by hemophagocytic lymphohistiocytosis secondary to visceral leishamniasis and describe all cases of hemophagocytic syndrome associated with visceral leishamniasis in childhood reported in literature, focusing on clinical manifestation, diagnosis and treatment.