Flavonoids analysis of Vicia species of Narbonensis complex: V. kalakhensis Khatt., Maxt. & Bisby and V. eristalioides Maxt.

A qualitative and quantitative analysis of flavonoids has been carried out for first time in Vicia eristalioides Maxt. and in Vicia kalakhensis Khatt., Maxt. & Bisby. Free agly- cones were consistently absent from both species while kaempferol derivatives were pre dominant in V. kalakhensis; a more complex mixture of flavonoid glycosides,(kaempferol and quercetin glycosides) was present in V. eristalioides. Therer was no evidence of flavones glycosides.The flavonoid patterns of V. kalakhensis and V. eristalioides were compared with that of V. narbonensis which is considered to be the ancestor of the Narbonensis complex. The results indicate that qualitative and quantitative flavonoid data may be used in the study of the organization and evolution of the Narbonensis complex

gender and quality of life in laryngectomized patients

Background: the aim of this study was to investigate possible correlations between the perception of postoperative quality of life and gender. Methods: the questionnaires “the Brief illness Perception Questionnaire” (B-iPQ) and “Voice handicap index” (Vhi) were administered to 94 patients divided into two groups according to gender group a: 73 men, group B: 21 women. RESULTS: The results showed that gender should be considered a factor influencing perceived quality of life in laryngectomized patients. Specifically, women showed greater concern towards the disease, its evolution, and the consequences on their lives, compared to men. CONCLUSIONS: the care of the laryngectomized woman should consider the impact that loss of voice has on the perception of her femininity, and the physical, functional, and above all emotional issues that such surgeries may lead to for women

Insulinoma in pediatric tuberous sclerosis complex: a case report

BackgroundTuberous sclerosis complex (TSC) is a rare multisystemic disorder. This genetically determined disease is characterized by highly variable clinical expression, including epilepsy as a common feature. Seizures can also occur as a manifestation of symptomatic hypoglycemia. The latter could be caused by an insulinoma, whose association to TSC has already been debated. In TSC-associated tumors, dysregulation of the mTOR pathway is believed to be present, leading to significant impacts on cellular metabolism, growht, and proliferation. To date, the association between TSC and insulinoma has been reported in 11 adults. Here, we present the first case of a pediatric patient with TSC diagnosed with an insulinoma and review the existing literature on this topic.Case presentationA 11-year-old female with TSC presented with seizures unresponsive to standard therapy. Further investigation revealed that these seizures were caused by hypoglycemia. Subsequent evaluation led to the diagnosis of a pancreatic insulinoma, which was surgically removed. Following the procedure, the patient was free from seizures.ConclusionsIn individuals with TSC, the recurrence of epileptiform episodes throughout their lifetime, especially if previously well controlled with antiepileptic therapy, should raise suspicion for hypoglycemic events. These events may potentially be associated with the presence of an insulinoma. Further research and increased awareness are necessary to gain a better understanding of the association between TSC and insulinomas, and to guide clinical management strategies

Integrative analysis of hereditary nonpolyposis colorectal cancer: The contribution of allele-specific expression and other assays to diagnostic algorithms

The identification of germline variants predisposing to hereditary nonpolyposis colorectal cancer (HNPCC) is crucial for clinical management of carriers, but several probands remain negative for such variants or bear variants of uncertain significance (VUS). Here we describe the results of integrative molecular analyses in 132 HNPCC patients providing evidences for improved genetic testing of HNPCC with traditional or next generation methods. Patients were screened for: germline allele-specific expression (ASE), nucleotide variants, rearrangements and promoter methylation of mismatch repair (MMR) genes; germline EPCAM rearrangements; tumor microsatellite instability (MSI) and immunohistochemical (IHC) MMR protein expression. Probands negative for pathogenic variants of MMR genes were screened for germline APC and MUTYH sequence variants. Most germline defects identified were sequence variants and rearrangements of MMR genes. Remarkably, altered germline ASE of MMR genes was detected in 8/22 (36.5%) probands analyzed, including 3 cases negative at other screenings. Moreover, ASE provided evidence for the pathogenic role and guided the characterization of a VUS shared by 2 additional probands. No germline MMR gene promoter methylation was observed and only one EPCAM rearrangement was detected. In several cases, tumor IHC and MSI diverged from germline screening results. Notably, APC or biallelic MUTYH germline defects were identified in 2/19 probands negative for pathogenic variants of MMR genes. Our results show that ASE complements gDNA-based analyses in the identification of MMR defects and in the characterization of VUS affecting gene expression, increasing the number of germline alterations detected. An appreciable fraction of probands negative for MMR gene variants harbors APC or MUTYH variants. These results indicate that germline ASE analysis and screening for APC and MUTYH defects should be included in HNPCC diagnostic algorithms

Strongly structured populations and reproductive habitat fragmentation increase the vulnerability of the Mediterranean starry ray Raja asterias (Elasmobranchii, Rajidae)

The Mediterranean starry ray (Raja asterias) populations within the Mediterranean Sea are susceptible to high rates of bycatch in the multispecies trawl fisheries. Understanding its population structure and identifying critical habitats are crucial for assessing species vulnerability and setting the groundwork for specific management measures to prevent population decline. To assess the population structure of R. asterias in the Mediterranean, the genetic variation in nine population samples at one mitochondrial marker and eight nuclear microsatellite loci was analysed. Moreover, 172 egg cases collected in the Strait of Sicily were identified at species level using integrated molecular and morphological approaches. Genetic analyses revealed that the Mediterranean starry ray comprises three distinct units inhabiting the western, the central-western, and the central-eastern areas of the Mediterranean. An admixture zone occurs in the Strait of Sicily and the Ionian Sea, where individuals of the central-western and central-eastern population units intermingle. The joint morphometric–genetic analyses of rajid egg cases confirmed the presence of more than one species in the admixture area, with a predominance of egg cases laid by R. asterias. DNA barcoding revealed that egg cases and embryos of R. asterias shared several haplotypes with adult individuals from the central-western and central-eastern Mediterranean Sea, revealing that females of both populations laid numerous eggs in this area. According to these findings, detailed taxonomic determination of egg cases, when combined with seasonal migration studies, could improve the capability to identify important spawning or nursery areas for the Mediterranean starry ray, particularly in those admixture zones relevant to maintaining genetic diversity. Finally, these new insights should be considered to update the Action Plan for the Conservation of Cartilaginous Fishes in the Mediterranean Sea with effective measures to reduce the impact of skate bycatch in trawling and safeguard egg cases in nursery areas

Strongly structured populations and reproductive habitat fragmentation increase the vulnerability of the Mediterranean starry ray Raja asterias (Elasmobranchii, Rajidae)

1. The Mediterranean starry ray (Raja asterias) populations within the Mediterranean Sea are susceptible to high rates of bycatch in the multispecies trawl fisheries. Understanding its population structure and identifying critical habitats are crucial for assessing species vulnerability and setting the groundwork for specific management measures to prevent population decline. 2. To assess the population structure of R. asterias in the Mediterranean, the genetic variation in nine population samples at one mitochondrial marker and eight nuclear microsatellite loci was analysed. Moreover, 172 egg cases collected in the Strait of Sicily were identified at species level using integrated molecular and morphological approaches. 3. Genetic analyses revealed that the Mediterranean starry ray comprises three distinct units inhabiting the western, the central-western, and the central-eastern areas of the Mediterranean. An admixture zone occurs in the Strait of Sicily and the Ionian Sea, where individuals of the central-western and central-eastern population units intermingle. 4. The joint morphometric–genetic analyses of rajid egg cases confirmed the presence of more than one species in the admixture area, with a predominance of egg cases laid by R. asterias. DNA barcoding revealed that egg cases and embryos of R. asterias shared several haplotypes with adult individuals from the centralwestern and central-eastern Mediterranean Sea, revealing that females of both populations laid numerous eggs in this area. 5. According to these findings, detailed taxonomic determination of egg cases, when combined with seasonal migration studies, could improve the capability to identify important spawning or nursery areas for the Mediterranean starry ray, particularly in those admixture zones relevant to maintaining genetic diversity. 6. Finally, these new insights should be considered to update the Action Plan for the Conservation of Cartilaginous Fishes in the Mediterranean Sea with effective measures to reduce the impact of skate bycatch in trawling and safeguard egg cases in nursery areas

Low Laser Therapy Plus Non-surgical Periodontal Treatment Reduces Interleukin-1 Beta Serum Levels

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Exploring mobility in Italian Neolithic and Copper Age communities

As a means for investigating human mobility during late the Neolithic to the Copper Age in central and southern Italy, this study presents a novel dataset of enamel oxygen and carbon isotope values (δ18Oca and δ13Cca) from the carbonate fraction of biogenic apatite for one hundred and twenty-six individual teeth coming from two Neolithic and eight Copper Age communities. The measured δ18Oca values suggest a significant role of local sources in the water inputs to the body water, whereas δ13Cca values indicate food resources, principally based on C3 plants. Both δ13Cca and δ18Oca ranges vary substantially when samples are broken down into local populations. Statistically defined thresholds, accounting for intra-site variability, allow the identification of only a few outliers in the eight Copper Age communities, suggesting that sedentary lifestyle rather than extensive mobility characterized the investigated populations. This seems to be also typical of the two studied Neolithic communities. Overall, this research shows that the investigated periods in peninsular Italy differed in mobility pattern from the following Bronze Age communities from more northern areas