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1.
Medicina (Kaunas) ; 59(10)2023 Oct 17.
Artigo em Inglês | MEDLINE | ID: mdl-37893565

RESUMO

Background and Objectives: mechanical restraint (MR) is a controversial issue in emergency psychiatry and should be better studied to implement other alternative therapeutic interventions. The aim of this study was to estimate the prevalence of MR in an Italian psychiatric unit and identify the sociodemographic and clinical characteristics as well as the pharmacological pattern associated with MR. Materials and Methods: all subjects (N = 799) consecutively admitted to an Italian psychiatric inpatient unit were recruited. Several sociodemographic and clinical characteristics were recorded. Results: The prevalence of MR was 14.1%. Males, a younger age, and a single and migrant status were associated with the MR phenomenon. MR was more prevalent in patients affected by other diagnoses and comorbid illicit substance use, in patients with aggressive behaviors, and those that were involuntary admitted, leading significantly to hospitalization over 21 days. Furthermore, the patients that underwent MR were taking a lower number of psychiatric medications. Conclusions: Unfortunately, MR is still used in emergency psychiatry. Future research should focus on the dynamics of MR development in psychiatry, specifically considering ward- and staff-related factors that could help identify a more precise prevention and alternative intervention strategies.


Assuntos
Transtornos Mentais , Masculino , Humanos , Transtornos Mentais/terapia , Pacientes Internados , Prevalência , Hospitalização , Agressão
2.
Anal Chem ; 90(9): 5627-5636, 2018 05 01.
Artigo em Inglês | MEDLINE | ID: mdl-29579379

RESUMO

Knowledge of the nature of biofluids at a crime scene is just as important as DNA test to link the nature of the biofluid, the criminal act, and the dynamics of the crime. Identification of methods currently used for each biological fluid (blood, semen, saliva, urine) suffer from several limitations including instability of assayed biomolecules, and low selectivity and specificity; as an example of the latter issue, it is not possible to discriminate between alpha-amylase 1 (present in saliva) and alpha-amylase 2 (present in semen and vaginal secretion. In this context, the aim of the work has been to provide a predictive protein signature characteristic of each biofluid by the recognition of specific peptides unique for each protein in a single analysis. A panel of four protein biomarkers for blood, four for saliva, five for semen, and two for urine has been monitored has been monitored by using a single multiple reaction monitoring (MRM)-based method targeting concomitantly 46 different peptides. Then, The optimized method allows four biological matrices to be identified when present on their own or in 50:50 mixture with another biofluid. Finally, a valid strategy combining both DNA analysis and liquid chromatographic-tandem mass spectrometric multiple reaction monitoring (LC-MS-MRM) identification of biofluids on the same sample has been demonstrated to be particularly effective in forensic investigation of real trace evidence collected at a crime scene.


Assuntos
Líquidos Corporais/química , Crime , Ciências Forenses/métodos , Espectrometria de Massas em Tandem/métodos , Apolipoproteínas/análise , Biomarcadores/análise , Glicoproteínas/análise , Humanos , Cadeias kappa de Imunoglobulina , Albumina Sérica Humana/análise , alfa 1-Antitripsina/análise
3.
Am J Hum Biol ; 30(5): e23139, 2018 09.
Artigo em Inglês | MEDLINE | ID: mdl-30099799

RESUMO

OBJECTIVES: This work aimed to describe the genetic landscape of the Balkan Peninsula, as revealed by STR markers commonly used in forensics and spatial methods specifically developed for genetic data. METHODS: We generated and analyzed 16 short tandem repeats (STRs) autosomal genotypes in 287 subjects from ten administrative/geographical regions of Eastern Europe (Romania and the Republic of Moldova). We report estimates of the allele frequencies in these sub-populations, their fixation indexes, and use these results to complement previous spatial analyses of Southern Europe. RESULTS: In seven out of ten analyzed regional samples the heterozygosity, averaged across loci, was lower than expected. The average Fis was 0.011. Among the 16 loci, five returned a significant fixation index Fst. The composite Fst across the 16 loci, among the 10 regional samples, was 0.00417, a figure twice as large as that obtained with the same markers across the entire Northern Mediterranean. The first spatial principal component (sPC1) returned the picture of a Central-European pattern of frequencies for the Carpathians, which extended to the Southern boundary of the Balkan Peninsula. However, the 8 alleles extracted by sPC1 returned a picture of a strong reduction of the migration rate in the Carpathian region, mostly between the inner locations. CONCLUSIONS: Our results revealed an unexpected heterogeneity in the area. We believe that populations from some regions will require treatment as distinct entities when considered in forensic applications.


Assuntos
Frequência do Gene , Variação Genética , Repetições de Microssatélites , Genótipo , Humanos , Moldávia , Romênia
4.
Sci Justice ; 58(6): 469-478, 2018 11.
Artigo em Inglês | MEDLINE | ID: mdl-30446077

RESUMO

During the Second World War, on 24th March 1944, 335 Italians were massacred near Rome by the occupying forces of Nazi Germany. Four months later forensic examination led to the identification of 323 out of 335 victims. After approximately 60 years, the identification of the remaining unidentified twelve victims began with anthropological and genetic analysis carried out by a team of Italian forensic experts. Anthropological analysis was performed in field in order to confirm the sex of each victim and verify the presence of only one individual in each grave for a correct sampling. Selected bone fragments for each individual were then collected and transferred to the laboratory for genetic analysis. Although the anthropological ante mortem information was limited, morphological and metrical data was collected for a possible future identification of the victims. Subsequently, the typing of autosomal loci, Y-STR and mtDNA D-loop region of all bone and available reference samples was conducted. LR and cumulative LRs obtained from autosomal STR and Y-STR results confirmed the alleged relationship between three victims and their relatives with values over 104 (one sample) and 106 (two samples). Therefore, the genetic analysis offered the families the possibility of replacing the number of the grave with the name of the victim.


Assuntos
Osso e Ossos/química , Impressões Digitais de DNA/métodos , Antropologia Forense/métodos , Vítimas de Crime , Exumação , Homicídio , Humanos , Itália , II Guerra Mundial
5.
Am J Hum Biol ; 28(6): 846-856, 2016 11.
Artigo em Inglês | MEDLINE | ID: mdl-27245361

RESUMO

OBJECTIVES: The aim of this study was to explore the mitochondrial variability in the Yanomami population to reconstruct its demographic history and explore its genetic composition in relation to its cultural and linguistic features. METHODS: A total of 174 human head hair shafts -collected in 1958- belonging to individuals from a Yanomami group living in Santa Isabel, Brazil, were analyzed. Automated extraction of the hairs was performed, and several methods were applied to optimize the analysis of the degraded DNA. The mtDNA hypervariable segments I-II, along with the 9-bp COII-tRNALys deletion, were investigated. Using published data from the Yanomami and other Amazonian populations, several statistical analyses were carried out to explore the genetic variability within the study population. RESULTS: Ninety eight percent of the mitochondrial DNA (mtDNA) sequences analyzed belonged to Native American haplogroups, while 2% belonged to African haplogroups. Compared with the Yanomami groups previously studied, the Santa Isabel sample seemed more genetically similar to other Amazonian populations. CONCLUSIONS: Among the Yanomami samples studied to date, the Santa Isabel Yanomami show a higher genetic heterogeneity. This could be due to gene flow with non-Yanomami populations, as well as to the introduction of new mitochondrial haplotypes by gold miners. In both cases, the geographic location of Santa Isabel might have made this Yanomami village less isolated than the others, suggesting that the Rio Negro played a central role in increasing its genetic variability. On the whole, the Yanomami were quite genetically diversified, probably mirroring their great linguistic heterogeneity. Am. J. Hum. Biol. 28:846-856, 2016. © 2016Wiley Periodicals, Inc.


Assuntos
DNA Mitocondrial/genética , Variação Genética , Indígenas Sul-Americanos/genética , Brasil , Feminino , Haplótipos/genética , Humanos , Masculino , Filogenia , Análise de Sequência de DNA
6.
J Craniofac Surg ; 27(8): e776-e779, 2016 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-28005822

RESUMO

Aim of this work is to present the evolution of an innovative technique for tooth/implant supported bone distraction, leading to proper oral rehabilitation in patients with atrophic alveolar bone, even when a complete premaxilla expansion is needed, or in patients in whom implants were already present, but inserted in wrong position.Distraction osteogenesis was selected because of its moderate invasiveness, the few surgical steps needed, and the proper cost/benefits balance. This procedure is particularly suited for young patients with remarkable aesthetic demands related to active social and working life, as for elderly patients expecting lower surgical stress and risks.


Assuntos
Perda do Osso Alveolar/cirurgia , Regeneração Óssea , Implantação Dentária Endóssea/métodos , Implantes Dentários , Doenças Maxilares/cirurgia , Osteogênese por Distração/métodos , Adulto , Implantação Dentária Endóssea/instrumentação , Feminino , Humanos , Osteogênese por Distração/instrumentação , Adulto Jovem
7.
Am J Hum Biol ; 27(4): 508-19, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25728801

RESUMO

OBJECTIVES: Analysis of human genetic variation in mountain communities can shed light on the peopling of mountainous regions, perhaps revealing whether the remote geographic location spared them from outside invasion and preserved their gene pool from admixture. In this study, we created a model to assess genetic traces of historical events by reconstructing the paternal and maternal genetic history of seven small mountain villages in inland valleys of Central Italy. METHODS: The communities were selected for their geographic isolation, attested biodemographic stability, and documented history prior to the Roman conquest. We studied the genetic structure by analyzing two hypervariable segments (HVS-I and HVS-II) of the mtDNA D-loop and several informative single nucleotide polymorphisms (SNPs) of the mtDNA coding region in 346 individuals, in addition to 17 short tandem repeats (STRs) and Y-chromosome SNPs in 237 male individuals. RESULTS: For both uniparental markers, most of the haplogroups originated in Western Europe while some Near Eastern haplogroups were identified at low frequencies. However, there was an evident genetic similarity between the Central Italian samples and Near Eastern populations mainly in the male genetic pool. CONCLUSIONS: The samples highlight an overall European genetic pattern both for mtDNA and Y chromosome. Notwithstanding this scenario, Y chromosome haplogroup Q, a common paternal lineage in Central/Western Asia but almost Europe-wide absent, was found, suggesting that Central Italy could have hosted a settlement from Anatolia that might be supported by cultural, topographic and genetic evidence.


Assuntos
Cromossomos Humanos Y/genética , DNA Mitocondrial/genética , Variação Genética , Repetições de Microssatélites , Adulto , Idoso , Ásia Ocidental , Europa (Continente) , Feminino , Humanos , Itália , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único , Adulto Jovem
8.
Forensic Sci Int Genet ; 73: 103123, 2024 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-39173341

RESUMO

Cannabis sativa, a globally commercialized plant used for medicinal, food, fiber production, and recreation, necessitates effective identification to distinguish legal and illegal varieties in forensic contexts. This research utilizes multivariate statistical models and Machine Learning approaches to establish correlations between specific genotypes and tetrahydrocannabinol (Δ9-THC) content (%) in C. sativa samples. 132 cannabis leaves samples were obtained from legal growers in Piedmont, Italy, and illegal drug seizures in Turin. Samples were genetically profiled using a 13-loci STR multiplex and their Δ9-THC content was detected through quantitative GC-MS analysis. This study aims to assess the use of supervised classification modelling on genetic data to distinguish cannabis samples into legal and illegal categories, revealing distinct clusters characterized by unique allele profiles and THC content. t-distributed Stochastic Neighbor Embedding (t-SNE), Random Forest (RF) and Partial Least Squares Regression (PLS-R) were executed for the machine learning modelling. All the tested models resulted effective discriminating between legal samples and illegal. Although further validation is necessary, this study presents a novel forensic investigative approach, potentially aiding law enforcement in significant marijuana seizures or tracking illicit drug trafficking routes.


Assuntos
Cannabis , Dronabinol , Cromatografia Gasosa-Espectrometria de Massas , Aprendizado de Máquina , Cannabis/genética , Cannabis/química , Marcadores Genéticos , Humanos , Repetições de Microssatélites , Folhas de Planta/química , Folhas de Planta/genética , Genótipo , Análise dos Mínimos Quadrados , Itália
9.
Phys Med ; 120: 103329, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38492331

RESUMO

GOAL: In-beam Positron Emission Tomography (PET) is a technique for in-vivo non-invasive treatment monitoring for proton therapy. To detect anatomical changes in patients with PET, various analysis methods exist, but their clinical interpretation is problematic. The goal of this work is to investigate whether the gamma-index analysis, widely used for dose comparisons, is an appropriate tool for comparing in-beam PET distributions. Focusing on a head-and-neck patient, we investigate whether the gamma-index map and the passing rate are sensitive to progressive anatomical changes. METHODS/MATERIALS: We simulated a treatment course of a proton therapy patient using FLUKA Monte Carlo simulations. Gradual emptying of the sinonasal cavity was modeled through a series of artificially modified CT scans. The in-beam PET activity distributions from three fields were evaluated, simulating a planar dual head geometry. We applied the 3D-gamma evaluation method to compare the PET images with a reference image without changes. Various tolerance criteria and parameters were tested, and results were compared to the CT-scans. RESULTS: Based on 210 MC simulations we identified appropriate parameters for the gamma-index analysis. Tolerance values of 3 mm/3% and 2 mm/2% were suited for comparison of simulated in-beam PET distributions. The gamma passing rate decreased with increasing volume change for all fields. CONCLUSION: The gamma-index analysis was found to be a useful tool for comparing simulated in-beam PET images, sensitive to sinonasal cavity emptying. Monitoring the gamma passing rate behavior over the treatment course is useful to detect anatomical changes occurring during the treatment course.


Assuntos
Terapia com Prótons , Humanos , Terapia com Prótons/métodos , Método de Monte Carlo , Tomografia por Emissão de Pósitrons/métodos , Tomografia Computadorizada por Raios X/métodos , Simulação por Computador , Etoposídeo , Dosagem Radioterapêutica , Planejamento da Radioterapia Assistida por Computador/métodos
10.
Phys Med Biol ; 69(6)2024 Mar 13.
Artigo em Inglês | MEDLINE | ID: mdl-38373343

RESUMO

Objective.This study addresses a fundamental limitation of in-beam positron emission tomography (IB-PET) in proton therapy: the lack of direct anatomical representation in the images it produces. We aim to overcome this shortcoming by pioneering the application of deep learning techniques to create synthetic control CT images (sCT) from combining IB-PET and planning CT scan data.Approach.We conducted simulations involving six patients who underwent irradiation with proton beams. Leveraging the architecture of a visual transformer (ViT) neural network, we developed a model to generate sCT images of these patients using the planning CT scans and the inter-fractional simulated PET activity maps during irradiation. To evaluate the model's performance, a comparison was conducted between the sCT images produced by the ViT model and the authentic control CT images-serving as the benchmark.Main results.The structural similarity index was computed at a mean value across all patients of 0.91, while the mean absolute error measured 22 Hounsfield Units (HU). Root mean squared error and peak signal-to-noise ratio values were 56 HU and 30 dB, respectively. The Dice similarity coefficient exhibited a value of 0.98. These values are comparable to or exceed those found in the literature. More than 70% of the synthetic morphological changes were found to be geometrically compatible with the ones reported in the real control CT scan.Significance.Our study presents an innovative approach to surface the hidden anatomical information of IB-PET in proton therapy. Our ViT-based model successfully generates sCT images from inter-fractional PET data and planning CT scans. Our model's performance stands on par with existing models relying on input from cone beam CT or magnetic resonance imaging, which contain more anatomical information than activity maps.


Assuntos
Processamento de Imagem Assistida por Computador , Terapia com Prótons , Humanos , Processamento de Imagem Assistida por Computador/métodos , Terapia com Prótons/métodos , Tomografia Computadorizada por Raios X/métodos , Redes Neurais de Computação , Imageamento por Ressonância Magnética/métodos , Tomografia por Emissão de Pósitrons , Planejamento da Radioterapia Assistida por Computador/métodos
11.
Diagnostics (Basel) ; 13(3)2023 Jan 25.
Artigo em Inglês | MEDLINE | ID: mdl-36766535

RESUMO

BACKGROUND: The aim of the present study is to identify the main sociodemographic and clinical correlates associated with frequent service users (FSUs) in an Italian psychiatric emergency department. METHODS: This study is an observational and prospective clinical investigation. All subjects (N = 549) consecutively admitted to the Psychiatric Inpatient Unit of the IRCCS Ospedale Policlinico San Martino ((Genoa, Italy) were recruited over a period of 18 months. RESULTS: On average, FSUs were more likely to be single (75.0% vs. 64.0, p = 0.001), younger (38.79 years ± 14.68 vs. 45.94 years ± 16.94, p = 0.028), with an earlier onset (20.15 years ± 7.22 vs. 29.33 years ± 15.96, p < 0.001), and longer length of hospitalisation (13.65 days ± 12.40 vs. 9.89 ± 10.15, p = 0.006) compared to non-FSUs. While bipolar disorder was the most common primary diagnosis in both FSUs and non-FSUs, cluster B personality disorder was particularly elevated in FSUs (30.3% vs. 10.4%, p < 0.001). Furthermore, FSUs were more prone to substance use disorder (63.6% vs. 40.0%, p < 0.001), particularly cannabis (45.5% vs. 15.3%, p < 0.001), cocaine (33.3% vs. 10.4%, p < 0.001), and heroin (19.7% vs. 5.8%, p < 0.001), and were more likely to have non-suicidal self-injuries (21.2% vs. 6.8%, p < 0.001). FSUs were significantly more likely to be discharged against medical advice (18.2% vs. 5.6%, p < 0.001) or to have at least one escape attempt from the psychiatric ward (12.1% vs. 0.8%, p < 0.001). CONCLUSIONS: Specific clinical and social profiles of patients who repeatedly utilised the services of a psychiatric emergency department have been identified. Our findings can be used to develop suitable structures to support and reintegrate FSUs into society and work life.

12.
Sci Justice ; 62(1): 1-9, 2022 01.
Artigo em Inglês | MEDLINE | ID: mdl-35033321

RESUMO

Kinship recognition between anonymous DNA samples is becoming a relevant issue in forensics, more so with the increasing number of DNA profiles in databanks. Also, NGS-based genotyping is being increasingly used in routine personal identification, to simultaneously type large numbers of markers of different kind. In the present work, we explored computationally and experimentally the performance of the ForenSeq™ DNA Signature Prep Kit in identifying the true relationship between two anonymous samples, distinguishing it from other possible relationships. We analyzed with Familias R series of 10,000 pairs with 9 different simulated relationships, corresponding to different degrees of autosomal sharing. For each pair we obtained likelihood ratios for five kinship hypotheses vs. unrelatedness, and used their ranking to identify the preferred relationship. We also typed 21 subjects from two pedigrees, representing from parent-child to 4th cousins relationships. As expected, the power for identifying the true relationship decays in the order of autosomal sharing. Parent-child and full siblings can be robustly identified against other relationships. For half-siblings the chance of reaching a significant conclusion is already small. For more distant relationships the proportion of cases correctly and significantly identified is 10% or less. Bidirectional errors in kinship attribution include the suggestion of relatedness when this does not exist (10-50%), and the suggestion of independence in pairs of individuals more than 4 generations apart (25-60%). The real cases revealed a relevant effect of genotype miscalling at some loci, which could only be partly avoided by modulating the analysis parameters. In conclusion, with the exception of first degree relatives, the kit can be useful to inform additional investigations, but does not usually provide probatory results.


Assuntos
Impressões Digitais de DNA , Repetições de Microssatélites , Impressões Digitais de DNA/métodos , Genótipo , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Humanos , Linhagem , Polimorfismo de Nucleotídeo Único
13.
Talanta ; 245: 123472, 2022 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-35462136

RESUMO

From a criminalistic point of view, the accurate dating of biological traces found at the crime scene, together with its compatibility with the estimated crime perpetration timeframe, enables to limit the number of suspects by assessing their alibis and clarifying the sequence of events. The present study delineates, for the first time, the possibility of dating biological fluids such as semen and urine, as well as blood traces, by using a novel non-destructive analytical strategy based on hyperspectral imaging in the near infared region (HSI-NIR), coupled with multivariate regression methods. Investigated aspects of the present study include not only the progressive degradation of the biological trace itself, but also the effects of its interactions with the support on which it is absorbed, in particular the hydrophilic vs. hydrophobic character of fabric tissues. Results are critically discussed, highlighting potential and limitations of the proposed approach for a practical implementation.


Assuntos
Líquidos Corporais , Imageamento Hiperespectral , Análise dos Mínimos Quadrados , Análise de Regressão , Sêmen , Espectroscopia de Luz Próxima ao Infravermelho
14.
Forensic Sci Int Genet ; 61: 102755, 2022 11.
Artigo em Inglês | MEDLINE | ID: mdl-35985094

RESUMO

Y chromosome short tandem repeats (Y-STRs) typing is becoming increasingly popular in forensic casework mainly because it allows the recovery of male-specific genetic information from severely unbalanced male-female DNA mixtures. The relatively low discrimination power of conventional Y-STR multiplexes, due to linkage disequilibrium among polymorphic loci, has been partially overcome by the introduction of rapidly mutating Y microsatellites (RM Y-STRs) with mutation rates exceeding 1 × 10-2/generation. In previous works, we reported an unexpectedly high level of haplotype sharing among African males using the Yfiler Plus PCR Amplification kit, the most powerful commercially available system, including 19 conventional Y-STRs and 6 RM Y-STRs. In particular, analyzing 1370 males from northern, eastern and central Africa, 240 subjects were found to share 100 Y-STR haplotypes. We attributed the relatively low discrimination capacity to several factors including patrilocality, endogamy, sampling bias and degree of urbanization. In the present study, using a blind search analysis based on 16 autosomal STRs, we first investigated the kinship between pairs of African males previously found to share the Yfiler Plus haplotype; then, we evaluated the improvement in identification capacity allowed by a PCR multiplex assay (RM-YPlex) based on 13 "first generation" RM Y-STR, seven of which are not included in the Yfiler Plus multiplex. Among 228 pairs of males sharing a Yfiler Plus haplotype, we detected 134 related (cousins or closer) and 94 unrelated (or distantly related) pairs of subjects. By using the RM-YPlex, we observed a full genotype concordance for the six loci shared with the Yfiler Plus, while the additional seven RM Y-STRs allowed the discrimination among 58.2 % related pairs and 84.0 % unrelated pairs. The discrimination capacity increased from 0.898 to 0.958, while the proportion of males sharing a haplotype decreased from 17.5 % to 8.0 %. These findings further highlight the capability of RM Y-STRs to distinguish males even in close kinship scenarios and in sub-structured populations as African ones, but at the same time call for the discovery and testing of additional RM Y-STRs to fully differentiate male relatives.


Assuntos
Cromossomos Humanos Y , Impressões Digitais de DNA , Humanos , Masculino , Feminino , Repetições de Microssatélites , Haplótipos , DNA/análise , Genética Populacional
15.
Front Oncol ; 12: 929949, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36226070

RESUMO

Morphological changes that may arise through a treatment course are probably one of the most significant sources of range uncertainty in proton therapy. Non-invasive in-vivo treatment monitoring is useful to increase treatment quality. The INSIDE in-beam Positron Emission Tomography (PET) scanner performs in-vivo range monitoring in proton and carbon therapy treatments at the National Center of Oncological Hadrontherapy (CNAO). It is currently in a clinical trial (ID: NCT03662373) and has acquired in-beam PET data during the treatment of various patients. In this work we analyze the in-beam PET (IB-PET) data of eight patients treated with proton therapy at CNAO. The goal of the analysis is twofold. First, we assess the level of experimental fluctuations in inter-fractional range differences (sensitivity) of the INSIDE PET system by studying patients without morphological changes. Second, we use the obtained results to see whether we can observe anomalously large range variations in patients where morphological changes have occurred. The sensitivity of the INSIDE IB-PET scanner was quantified as the standard deviation of the range difference distributions observed for six patients that did not show morphological changes. Inter-fractional range variations with respect to a reference distribution were estimated using the Most-Likely-Shift (MLS) method. To establish the efficacy of this method, we made a comparison with the Beam's Eye View (BEV) method. For patients showing no morphological changes in the control CT the average range variation standard deviation was found to be 2.5 mm with the MLS method and 2.3 mm with the BEV method. On the other hand, for patients where some small anatomical changes occurred, we found larger standard deviation values. In these patients we evaluated where anomalous range differences were found and compared them with the CT. We found that the identified regions were mostly in agreement with the morphological changes seen in the CT scan.

16.
Med Phys ; 49(1): 23-40, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34813083

RESUMO

PURPOSE: In-beam positron emission tomography (PET) is one of the modalities that can be used for in vivo noninvasive treatment monitoring in proton therapy. Although PET monitoring has been frequently applied for this purpose, there is still no straightforward method to translate the information obtained from the PET images into easy-to-interpret information for clinical personnel. The purpose of this work is to propose a statistical method for analyzing in-beam PET monitoring images that can be used to locate, quantify, and visualize regions with possible morphological changes occurring over the course of treatment. METHODS: We selected a patient treated for squamous cell carcinoma (SCC) with proton therapy, to perform multiple Monte Carlo (MC) simulations of the expected PET signal at the start of treatment, and to study how the PET signal may change along the treatment course due to morphological changes. We performed voxel-wise two-tailed statistical tests of the simulated PET images, resembling the voxel-based morphometry (VBM) method commonly used in neuroimaging data analysis, to locate regions with significant morphological changes and to quantify the change. RESULTS: The VBM resembling method has been successfully applied to the simulated in-beam PET images, despite the fact that such images suffer from image artifacts and limited statistics. Three dimensional probability maps were obtained, that allowed to identify interfractional morphological changes and to visualize them superimposed on the computed tomography (CT) scan. In particular, the characteristic color patterns resulting from the two-tailed statistical tests lend themselves to trigger alarms in case of morphological changes along the course of treatment. CONCLUSIONS: The statistical method presented in this work is a promising method to apply to PET monitoring data to reveal interfractional morphological changes in patients, occurring over the course of treatment. Based on simulated in-beam PET treatment monitoring images, we showed that with our method it was possible to correctly identify the regions that changed. Moreover we could quantify the changes, and visualize them superimposed on the CT scan. The proposed method can possibly help clinical personnel in the replanning procedure in adaptive proton therapy treatments.


Assuntos
Terapia com Prótons , Humanos , Método de Monte Carlo , Tomografia por Emissão de Pósitrons , Tomografia Computadorizada por Raios X
17.
Front Genet ; 12: 669405, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33936180

RESUMO

The azoospermia factor c region (AZFc), located in the long arm of the human Y chromosome, is frequently involved in chromosome rearrangements, mainly due to non-allelic homologous recombination events that occur between the nearly identical sequences (amplicon) that comprises it. These rearrangements may have major phenotypic effects like spermatogenic failure or other pathologies linked to male infertility. Moreover, they may also be relevant in forensic genetics, since some of the Y chromosome short tandem repeats (Y-STRs) commonly used in forensic analysis are located in amplicons or in inter-amplicon sequences of the AZFc. In a previous study, we identified four phylogenetically related samples with a null allele at DYS448 and a tetrallelic pattern at DYF387S1, two Y-STRs located in the AZFc. Through NGS read depth analysis, we found that the unusual Y-STR pattern may be due to a 1.6 Mb deletion arising concurrently or after a 3.5 Mb duplication event. The observed large genomic rearrangement results in copy number reduction for the RBMY gene family as well as duplication of other AZFc genes. Based on the diversity of 16 additional Y-STRs, we estimated that the duplication/deletion event occurred at least twenty generations ago, suggesting that it has not been affected by negative selection.

18.
J Clin Med ; 10(23)2021 Nov 26.
Artigo em Inglês | MEDLINE | ID: mdl-34884255

RESUMO

Age-related muscle loss is a phenomenon that has been extensively studied in recent decades. Sarcopenia is a multisystem disease, which predisposes to muscle weakness and frailty. At around 50 years of age, an individual begins to lose muscle strength, although this becomes more evident after 70. Sarcopenia is a condition typically found in older adults but can also affect younger people. Sarcopenia is a preventable and treatable condition. In past years, methods and tools to recognize the condition early have been researched. For the development of therapeutic interventions, agreement on diagnosis is fundamental. In recent years, a possible role of ultrasonography in the diagnosis of sarcopenia has been evaluated, compared with the best-known techniques.

19.
Genome Biol Evol ; 12(9): 1579-1590, 2020 09 01.
Artigo em Inglês | MEDLINE | ID: mdl-32835369

RESUMO

The Dominican Republic is one of the two countries on the Hispaniola island, which is part of the Antilles. Hispaniola was affected by the European colonization and massive deportation of African slaves since the XVI century and these events heavily shaped the genetic composition of the present-day population. To shed light about the effect of the European rules, we analyzed 92 single nucleotide polymorphisms on the Y chromosome in 182 Dominican individuals from three different locations. The Dominican Y haplogroup composition was characterized by an excess of northern African/European lineages (59%), followed by the African clades (38%), whereas the Native-American lineages were rare (3%). The comparison with the mitochondrial DNA variability, dominated by African clades, revealed a sex-biased admixture pattern, in line with the colonial society dominated by European men. When other Caribbean and non-Caribbean former colonies were also considered, we noted a difference between territories under a Spanish rule (like the Dominican Republic) and British/French rule, with the former characterized by an excess of European Y lineages reflecting the more permissive Iberian legislation about mixed people and slavery. Finally, we analyzed the distribution in Africa of the Dominican lineages with a putative African origin, mainly focusing on central and western Africa, which were the main sources of African slaves. We found that most (83%) of the African lineages observed in Santo Domingo have a central African ancestry, suggesting that most of the slaves were deported from regions.


Assuntos
Cromossomos Humanos Y , Migração Humana , Grupos Raciais/genética , República Dominicana , Variação Genética , Haplótipos , Humanos , Masculino
20.
Talanta ; 215: 120911, 2020 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-32312455

RESUMO

The importance of detecting minute biological traces in forensic evidences feeds the continuous interest towards the development of new dedicated technologies both sensitive and reliable. The present study describes the opportunity to combine chemical properties derived from NIR signals with spatial features typical of RGB images by means of hyperspectral imaging (HSI). An analytical procedure based on HSI data collection and their multivariate processing followed by normalized difference images (NDI) is proposed as a screening method to highlight otherwise invisible traces of biological fluids on different supports in view of their collection for DNA analysis. The pattern features identified inside the NDI provided insight into the nature of the biological trace, on the basis of the wavelength at which the stain is highlighted and irrespective of the support on which the stain is deposited. In particular, the procedure allowed to detect and distinguish traces (i.e., 10 and 20 µL volumes) of dehydrated blood, urine, and semen on glass, paper, cotton, denim and polyblend fabric. Beside the simulated specimens used to develop and test the protocol, its robustness was demonstrated also on real and unknown validation samples, confirming its feasibility in some real case studies. An interesting evolution of the proposed strategy is to lay the scientific foundations for the development of a handheld device directly applicable in field.


Assuntos
Líquidos Corporais/química , DNA/análise , Medicina Legal , Imagem Óptica , Humanos , Raios Infravermelhos , Análise Multivariada , Tamanho da Partícula , Propriedades de Superfície
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