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1.
Folia Med (Plovdiv) ; 66(3): 386-394, 2024 Jun 30.
Artículo en Inglés | MEDLINE | ID: mdl-39365624

RESUMEN

INTRODUCTION: The failure of closure of the dorsal wall of the sacral canal (SC) has been known since the eve of modern osteology, appearing in prehistoric times. Variants include partial or complete absence of the dorsal wall of the SC. SC presents a pathway for minimally invasive therapeutic and diagnostic procedures for spinal diseases and for ensuring analgesia and anesthesia in operations, including labor and genitourinary surgery.


Asunto(s)
Sacro , Humanos , Sacro/anomalías , Grecia , Canal Medular/anomalías , Masculino , Femenino
2.
PeerJ ; 12: e17918, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39221262

RESUMEN

The evolution of a population by means of genetic drift and natural selection operating on a gene regulatory network (GRN) of an individual has not been scrutinized in depth. Thus, the relative importance of various evolutionary forces and processes on shaping genetic variability in GRNs is understudied. In this study, we implemented a simulation framework, called EvoNET, that simulates forward-in-time the evolution of GRNs in a population. The fitness effect of mutations is not constant, rather fitness of each individual is evaluated on the phenotypic level, by measuring its distance from an optimal phenotype. Each individual goes through a maturation period, where its GRN may reach an equilibrium, thus deciding its phenotype. Afterwards, individuals compete to produce the next generation. We examine properties of the GRN evolution, such as robustness against the deleterious effect of mutations and the role of genetic drift. We are able to confirm previous hypotheses regarding the effect of mutations and we provide new insights on the interplay between random genetic drift and natural selection.


Asunto(s)
Redes Reguladoras de Genes , Flujo Genético , Modelos Genéticos , Selección Genética , Redes Reguladoras de Genes/genética , Mutación , Evolución Molecular , Fenotipo , Simulación por Computador , Humanos
3.
Genome Biol Evol ; 16(9)2024 Sep 03.
Artículo en Inglés | MEDLINE | ID: mdl-39224065

RESUMEN

Sand flies infect more than 1 million people annually with Leishmania parasites and other bacterial and viral pathogens. Progress in understanding sand fly adaptations to xenobiotics has been hampered by the limited availability of genomic resources. To address this gap, we sequenced, assembled, and annotated the transcriptomes of 11 phlebotomine sand fly species. Subsequently, we leveraged these genomic resources to generate novel evolutionary insights pertaining to their adaptations to xenobiotics, including those contributing to insecticide resistance. Specifically, we annotated over 2,700 sand fly detoxification genes and conducted large-scale phylogenetic comparisons to uncover the evolutionary dynamics of the five major detoxification gene families: cytochrome P450s (CYPs), glutathione-S-transferases (GSTs), UDP-glycosyltransferases (UGTs), carboxyl/cholinesterases (CCEs), and ATP-binding cassette (ABC) transporters. Using this comparative approach, we show that sand flies have evolved diverse CYP and GST gene repertoires, with notable lineage-specific expansions in gene groups evolutionarily related to known xenobiotic metabolizers. Furthermore, we show that sand flies have conserved orthologs of (i) CYP4G genes involved in cuticular hydrocarbon biosynthesis, (ii) ABCB genes involved in xenobiotic toxicity, and (iii) two primary insecticide targets, acetylcholinesterase-1 (Ace1) and voltage gated sodium channel (VGSC). The biological insights and genomic resources produced in this study provide a foundation for generating and testing hypotheses regarding the molecular mechanisms underlying sand fly adaptations to xenobiotics.


Asunto(s)
Evolución Molecular , Resistencia a los Insecticidas , Insecticidas , Filogenia , Psychodidae , Animales , Psychodidae/genética , Resistencia a los Insecticidas/genética , Insecticidas/farmacología , Sistema Enzimático del Citocromo P-450/genética , Sistema Enzimático del Citocromo P-450/metabolismo , Glutatión Transferasa/genética , Glutatión Transferasa/metabolismo , Genómica , Inactivación Metabólica/genética , Xenobióticos/metabolismo
4.
Indian J Otolaryngol Head Neck Surg ; 76(3): 2464-2473, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38883494

RESUMEN

Οur aim was to test whether amikacin's well-known cochleotoxic effects could be suppressed, depending on whether an NMDA-antagonist (memantine) was administered simultaneously with or after amikacin treatment. Forty Wistar rats were used in this experiment. Ten rats acted as controls and received no medication (group A). Amikacin (200 mg/kg) was administered intraperitoneally (i.p.) once daily for 14 days to 10 animals in group B; amikacin (200 mg/kg) was administered concurrently with memantine (10 mg/kg, i.p., once daily) to the same 10 animals in group C. Group D was given intraperitoneal memantine (10 mg/kg, once daily) for 14 days following a 2-week amikacin treatment. The cochlear activity of the right ear was tested using DPOAE in conscious animals. All animals were sacrificed at the conclusion of the experiment and both cochleae were collected for histological and immunohistochemical analysis. All groups treated with amikacin showed decreased cochlear activity, as testified by decreased DPOAE-amplitudes compared to the pre-treatment state. In the rats of group B, the DPOAE reduction was more pronounced. On histologic exam, the cochlear structures of group C rats and, although to a lesser extent, group D rats showed less severe cochlea damage. Memantine plays a protective role, resulting in restoring partially cochlear structures when administered either simultaneously with or after completion of amikacin i.p. treatment in rats.

5.
J Interpers Violence ; : 8862605241247552, 2024 May 20.
Artículo en Inglés | MEDLINE | ID: mdl-38769870

RESUMEN

Intimate partner or marital/spousal rape is a phenomenon with unique characteristics and dynamics. Furthermore, it is an under-explored, under-defined, under-reported, and widely tolerated phenomenon. Gender-based violence and intimate partner violence are the main topics of the present study. The study aimed at exploring the trends in reported intimate partner and marital/spousal rape, within the wider context of reported domestic violence during the years 2020 and 2021 in Greece. Statistical analysis has not indicated positive correlation between the rate of reported domestic violence per year and the rate of reported domestic rape per year, with the former following an upward trend and the latter maintaining an almost steady course. Similarly, the rate of reported victims of intimate partner rape per year remained almost stable within in the 2 years. Importantly however, in 2021, the rate of reported victims of marital rape per year increased remarkably compared to 2020. In 2021, the rates of reported domestic violence per month and reported domestic rape per month indicated remarkable increase over the period May to December 2021. Notwithstanding, the rates mentioned above remained almost stable over the year 2020, showing an upward trend during the summer months. In August 2020 and 2021 the abovementioned rates reached their peak. In both years, the vast majority of victims of domestic rape were females, mostly between 30 and 45 years of age. The present study indicated an increase in rates of reported domestic violence and reported domestic rape per month after the lockdowns, especially after the second long-lasting lockdown that ended in May 2021. This increase, however, might be only apparent. Further research is needed to study the epidemiology of intimate partner and marital rape over a much longer timespan to provide further insight into the dynamics surrounding a public health concern.

6.
Forensic Sci Int Genet ; 71: 103060, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38796876

RESUMEN

In the Battle of Crete during the World War II occupation of Greece, the German forces faced substantial civilian resistance. To retribute the numerous German losses, a series of mass executions took place in numerous places in Crete; a common practice reported from Greece and elsewhere. In Adele, a village in the regional unit of Rethymnon, 18 male civilians were executed and buried in a burial pit at the Sarakina site. In this study, the first one conducted for a conflict that occurred in Greece, we identified for humanitarian purposes the 18 skulls of the Sarakina victims, following a request from the local community of Adele. The molecular identification of historical human remains via ancient DNA approaches and low coverage whole genome sequencing has only recently been introduced. Here, we performed genome skimming on the living relatives of the victims, as well as high throughput historical DNA analysis on the skulls to infer the kinship degrees among the victims via genetic relatedness analyses. We also conducted targeted anthropological analysis to successfully complete the identification of all Sarakina victims. We demonstrate that our methodological approach constitutes a potentially highly informative forensic tool to identify war victims. It can hence be applied to analogous studies on degraded DNA, thus, paving the path for systematic war victim identification in Greece and beyond.


Asunto(s)
Dermatoglifia del ADN , ADN Antiguo , Segunda Guerra Mundial , Humanos , ADN Antiguo/análisis , Masculino , Grecia , Cráneo , Genoma Humano , Antropología Forense , Secuenciación Completa del Genoma
7.
J Neurol ; 271(7): 3754-3763, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38801432

RESUMEN

INTRODUCTION: Loss of dorsolateral nigral hyperintensity (DNH) on iron-sensitive brain MRI is useful for Parkinson's disease detection. DNH loss could also be of diagnostic value in dementia with Lewy bodies (DLB), an a-synuclein-related pathology. We aim to quantitatively synthesize evidence, investigating the role of MRI, a first-line imaging modality, in early DLB detection and differentiation from other dementias. METHODS: Our study was conducted according to the PRISMA statement. MEDLINE, Scopus, Web of Science, and Cochrane Library were searched using the terms like "dementia with Lewy bodies", "dorsolateral nigral hyperintensity", and "MRI". Only English-written peer-reviewed diagnostic accuracy studies were included. We used QUADAS-2 for quality assessment. RESULTS: Our search yielded 363 search results. Three studies were eligible, all with satisfying, high quality. The total population of 227 patients included 63 with DLB and 164 with other diseases (Alzheimer disease, frontotemporal dementia, mild cognitive impairment). Using a univariate random-effects logistic regression model, our meta-analysis resulted in pooled sensitivity, specificity and DOR of 0.82 [0.62; 0.92], 0.79 [0.70; 0.86] and 16.26 ([3.3276; 79.4702], p = 0.0006), respectively, for scans with mixed field strength (1.5 and 3 T). Subgroup analysis of 3 T scans showed pooled sensitivity, specificity and DOR of 0.82 [0.61; 0.93], 0.82 [0.72; 0.89] and 18.36 ([4.24; 79.46], p < 0.0001), respectively. DISCUSSION: DNH loss on iron-sensitive MRI might comprise a supportive biomarker for DLB detection, that could augment the value of the DLB diagnostic criteria. Further evaluation using standardized protocols is needed, as well as direct comparison to other supportive and indicative biomarkers.


Asunto(s)
Enfermedad por Cuerpos de Lewy , Imagen por Resonancia Magnética , Humanos , Enfermedad por Cuerpos de Lewy/diagnóstico por imagen , Enfermedad por Cuerpos de Lewy/diagnóstico , Imagen por Resonancia Magnética/normas , Sustancia Negra/diagnóstico por imagen , Sustancia Negra/patología
8.
Indian J Otolaryngol Head Neck Surg ; 76(1): 462-468, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-38440476

RESUMEN

Purpose Leukoplakia is a macroscopic morphological term for thick white or grey mucosal patches that can represent various histologic diagnostic entities ranging from hyperplasia to malignancy. Aim was the study morphology of the superficial mucosa and microvascular network of the vocal cords in patients with suspected glottic squamous cell carcinoma (SCC) using contact endoscopy (CE). Material and Methods Seventy-nine patients (21 female, 58 male), with a mean age of 57.5 years ± 7.12 (range, 32-73 years), were prospectively enrolled and evaluated. Of these patients, 58 had leukoplakia (Group A/41 males and 17 females, with a mean age of 53.7 years ± 6.65), and 21 (Group B/ 17males and 4 females/ with a mean age of 60.5 years ± 6.04) had malignant lesions (pT1, n = 6; p T2, n = 8; pT3, n = 8; Group B), as proven by the results of the histological examination. Further, 79 non-smokers (control group-group C) were studied. CE imaging findings were classified into five types (I to V) based on the features of the mucosal intra-epithelial capillary loops. CE findings were correlated to the histologic findings. A separate analysis involving smoking status was done. Results The CE-based intraepithelial papillary capillary loop classification score was strongly correlated with the histological findings. Age was strongly associated with both malignancy and bilateral involvement. Smoking habits didn't significantly differ between patients with unilateral and bilateral SCC. Conclusions CE imaging of the vocal cord mucosal capillaries may be useful for the early detection of glottic SCC and pre-cancerous lesions.

9.
Lupus Sci Med ; 11(1)2024 Mar 11.
Artículo en Inglés | MEDLINE | ID: mdl-38471723

RESUMEN

OBJECTIVES: In SLE, deregulation of haematopoiesis is characterised by inflammatory priming and myeloid skewing of haematopoietic stem and progenitor cells (HSPCs). We sought to investigate the role of extramedullary haematopoiesis (EMH) as a key player for tissue injury in systemic autoimmune disorders. METHODS: Transcriptomic analysis of bone marrow (BM)-derived HSPCs from patients with SLE and NZBW/F1 lupus-prone mice was performed in combination with DNA methylation profile. Trained immunity (TI) was induced through ß-glucan administration to the NZBW/F1 lupus-prone model. Disease activity was assessed through lupus nephritis (LN) histological grading. Colony-forming unit assay and adoptive cell transfer were used to assess HSPCs functionalities. RESULTS: Transcriptomic analysis shows that splenic HSPCs carry a higher inflammatory potential compared with their BM counterparts. Further induction of TI, through ß-glucan administration, exacerbates splenic EMH, accentuates myeloid skewing and worsens LN. Methylomic analysis of BM-derived HSPCs demonstrates myeloid skewing which is in part driven by epigenetic tinkering. Importantly, transcriptomic analysis of human SLE BM-derived HSPCs demonstrates similar findings to those observed in diseased mice. CONCLUSIONS: These data support a key role of granulocytes derived from primed HSPCs both at medullary and extramedullary sites in the pathogenesis of LN. EMH and TI contribute to SLE by sustaining the systemic inflammatory response and increasing the risk for flare.


Asunto(s)
Lupus Eritematoso Sistémico , Nefritis Lúpica , beta-Glucanos , Humanos , Animales , Ratones , Hematopoyesis , Células Madre Hematopoyéticas
10.
Disasters ; 48(3): e12620, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38146792

RESUMEN

This study presents an update of forensic accounting of the numbers and demographics of migrants found deceased in the Evros region of Greece in the years from 2015-22. Compared to data from 2000-14, this update reflects the mounting number of border-related deaths in the region, as well as the changing demographic trends associated with the migrants who perish crossing the Greek-Turkish border. Specifically, the paper documents a broadening of locations from which migrants originate, the increasing diversity of migrant death locations, and a shift in the leading causes of death. It contains important forensic accounting of the unique humanitarian crisis occurring along the Greek-Turkish land border while also providing an additional context for the global migration crisis. The data presented here offer insights into other forensic stakeholders impacted by the global migration crisis, with respect to what factors contribute to and detract from identification rates, and can help stakeholders make informed policy decisions.


Asunto(s)
Migrantes , Humanos , Grecia , Femenino , Migrantes/estadística & datos numéricos , Masculino , Adulto , Persona de Mediana Edad , Estudios Retrospectivos , Anciano , Adulto Joven , Adolescente , Niño , Causas de Muerte , Preescolar , Lactante , Emigración e Inmigración , Mortalidad/tendencias , Anciano de 80 o más Años , Recién Nacido
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