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1.
Healthcare (Basel) ; 11(17)2023 Sep 01.
Artículo en Inglés | MEDLINE | ID: mdl-37685483

RESUMEN

Familicide, an extreme form of domestic violence where one family member kills another, is a complex criminological issue. We analyzed autopsy files from the Institute of Legal Medicine, University of Rome Tor Vergata (1995-2022), to understand familicide better. The study focused on victim profiles, offender characteristics, and case dynamics. From 29 analyzed cases, 31 victims emerged, with 2 instances of double homicide. The perpetrators were mostly male (79.31%) and the victims were primarily female (54.84%). The familial ties ranged from parent-child to siblings and spouses. A significant number of crimes happened at private residences (70.97%) using bladed weapons (48.39%), with the injuries being concentrated on the head and chest. Half of the cases showed struggle signs, and 24.14% of the perpetrators had identifiable psychiatric disorders, which often served as the motive. Post-crime actions included self-reporting, suicide attempts, and successful suicides. A comparison with literature confirmed the typical familicide offender as a middle-aged male with potential social stressors and a history of domestic violence, with the victims often being female family members. Mental health conditions including depression, bipolar disorder, and schizophrenia significantly impacted these events. These findings underline the need for customized approaches to comprehending and preventing familicide.

2.
Epidemiol Prev ; 46(3): 168-172, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35775294

RESUMEN

BACKGROUND: obesity is one of the most prevalent diseases all over the world. Because of its high social impact, the broadest possible approach on several levels - and not limited only to clinical aspect - is needed to better understand and face the challenges obesity poses to public health. OBJECTIVES: to analyse, through the main evidence, the social impact of weight excess in the general population and the actions aimed at mitigating its negative effects. DESIGN: narrative review. SETTING: data obtained from the sources included in the study were gathered and analyzed in five macroareas: Health Inequality, Society, Work, Impact on Social Medicine (focused on the Italian model), and Social Costs. RESULTS: each category showed a bilateral relationship with obesity having a significant impact for the community. CONCLUSIONS: for each field, various actions should be taken at institutional level. Many recommendations and actions have already been taken worldwide, but they alone seem to be not enough. This work points out that, in order to combat obesity and bring about a slowdown of this pandemic, the entire scientific community and institutions must work together to identify and design programmes that are truly effective.


Asunto(s)
Disparidades en el Estado de Salud , Obesidad , Humanos , Italia/epidemiología , Obesidad/epidemiología , Salud Pública
3.
Healthcare (Basel) ; 10(2)2022 Jan 31.
Artículo en Inglés | MEDLINE | ID: mdl-35206896

RESUMEN

The SARS-CoV-2 spread is a threatening and challenging issue for correctional systems worldwide because of many factors, particularly overcrowding and of the intrinsic characteristics of the population. The prevention measures adopted by the Italian Government were aimed to protect and preserve both inmates' and prison workers' health. The present study aimed to evaluate the efficacy of the adopted strategies. METHODS: Data regarding Italian prisons' occupation and prisoners' population from January 2019 to June 2021, as well as the cumulative weekly increase of confirmed cases and the number of doses of vaccine administered among the population of inmates, the prison workers, and Italian population from November 2020 to the end of June 2021, were collected. RESULTS: Prisons' occupation dropped from 120% to 106% after the beginning of the pandemics. The confirmed cases between inmates were consistently lower than among the Italian population and prison workers. A time-series chart showed a time lag of one week between the peaks of the different population. CONCLUSIONS: The containing strategies adopted by the Italian correctional system have proved their effectiveness in terms of the prevention and protection of both inmate and staff health.

4.
J Forensic Sci ; 67(1): 404-407, 2022 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-34346506

RESUMEN

Initial evidence exists on a subtype of matricide committed by subjects suffering from severe mental disorders. Matricide perpetrators often undergo a forensic psychiatric evaluation during the subsequent criminal trial because of supposed legal insanity. The few studies on matricide by mentally disordered perpetrators suggested a possible association between such extreme form of violence and schizophrenia spectrum disorders, especially in case of active delusions or hallucinations. METHODS: we analyze a case of a young male with a recent diagnosis of psychotic disorder who committed matricide by inflicting multiple injuries and beheading. Data emerging from the forensic pathological analysis of the victim, as well as the forensic psychiatric analysis of the matricide perpetrator are discussed within an interdisciplinary perspective. RESULTS: the autopsy revealed multiple stab wounds in the regions of the upper limbs, abdomen, chest, and neck, the latter determining beheading. The forensic psychiatric evaluation yielded a diagnosis of schizophrenia and clarified the causal role in the homicidal behavioral of active psychotic symptoms. CONCLUSION: the specific type of delusional content, and perpetrator-victim relationship might contribute explaining a subtype of extremely violent homicide in recent onset schizophrenia.


Asunto(s)
Criminales , Homicidio , Trastornos Psicóticos , Esquizofrenia , Alucinaciones , Humanos , Masculino
5.
Intern Emerg Med ; 17(2): 349-358, 2022 03.
Artículo en Inglés | MEDLINE | ID: mdl-34176039

RESUMEN

Small bowel capsule endoscopy (SBCE) visualizes the small bowel (SB) mucosa. Gastrointestinal (GI) bleeding from SB accounts for the majority of SBCE indications. We aimed to assess, in a "real-world" prospective study, the diagnostic yield of SBCE in a cohort of consecutive patients with obscure gastrointestinal bleeding (OGIB). Secondary end point was to assess the frequency of adverse events and the role of SBCE in determining the diagnostic work-up and clinical outcome. From 2016 to 2018, all patients referred for SBCE examination were enrolled. Indication for SBCE was re-assessed by 2 dedicated gastroenterologists. Inclusion criteria: (1) age ≥ 18 and ≤ 85 years; (2) diagnosis of OGIB; 3) non-diagnostic standard bidirectional endoscopy; (4) informed consent. Exclusion criteria: (1) deglutition impairment; (2) SBCE contraindications; (3) pregnancy. The cohort included 50 patients [males 18 (36%), age 68 (27-83)]. SBCE indication: patients with ongoing overt OGIB (Group A) (n = 11; 22%), previous overt OGIB (Group B) (n = 14; 28%), occult bleeding (with Iron Deficiency Anaemia) (Group C) (n = 25; 50%). SBCE detected clinically relevant lesions in 46 (92%) cases. Clinically relevant lesions were more frequent in Group C (24/25; 96%), followed by Group A (10/11; 91%) and Group B (12/14; 85.5%). After SBCE, treatment was medical (60%); endoscopic (14%), surgical (36%) or conservative (18%). Clinical follow-up showed complete resolution in 63.2%, partial/absent resolution in 18.4% of cases. In a prospective study, the high diagnostic yield of SBCE supports its role as first-line investigation in patients with OGIB. However, this achievement requires an accurate and timely assessment by dedicated gastroenterologists.


Asunto(s)
Endoscopía Capsular , Anciano , Anciano de 80 o más Años , Hemorragia Gastrointestinal/diagnóstico , Hemorragia Gastrointestinal/terapia , Humanos , Intestino Delgado , Masculino , Estudios Prospectivos , Estudios Retrospectivos
6.
Forensic Sci Int ; 325: 110893, 2021 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-34273605

RESUMEN

Toxicology investigation on human's buried dead bodies is a rare and challenging task in the forensic field. As requested by the Judicial Authority, this work aimed to verify testimonial evidence that emerged during a criminal investigation involving multiple murder cases. The statements indicated an improper medical administration of one or more alleged drugs (propofol, morphine, diazepam, and midazolam) which presumably caused the deaths. Since the supposed crimes took place several years before, the task of the present work was to obtain results to support the charges. The analyses involved 18 biological samples taken from four exhumed bodies, three of which were female and one male, each buried in a different date and mode. Each sample was treated with specific purification and extraction techniques (LLE - SPE) after the addition of the deuterated analogs of the searched analytes (propofol-d17, morphine-d3, diazepam-d5, midazolam-d4) as internal standards. Afterwards, the extracts were subjected to qualitative analysis by gas chromatography-mass spectrometry-Electron Impact (GC/MS - EI), both in full scan and SIM mode. Propofol, morphine, and diazepam were identified in the corpses. It supports testimonials that were administered just before the deaths occurred.


Asunto(s)
Diazepam/análisis , Homicidio , Midazolam/análisis , Morfina/análisis , Propofol/análisis , Anciano , Anciano de 80 o más Años , Cadáver , Diazepam/envenenamiento , Exhumación , Femenino , Cromatografía de Gases y Espectrometría de Masas , Humanos , Riñón/química , Hígado/química , Masculino , Midazolam/envenenamiento , Morfina/envenenamiento , Propofol/envenenamiento , Vejiga Urinaria/química
7.
Med Leg J ; : 258172211010377, 2021 Jul 20.
Artículo en Inglés | MEDLINE | ID: mdl-34284661

RESUMEN

The use of helium in plastic bag suffocation is a suicide method recently found in forensic cases. Although it is not common practice, there has been a strong increase in its use during the past 20 years, thanks to the accessibility of information on the web and materials needed to implement it. From a pathophysiological point of view, there are various theories on how helium can change the timing and, also, the cause of death when the head is inside a plastic bag. We report two cases where we believe that the action of helium, whose unequivocal use is demonstrated by the circumstantial data, has unfolded in a different way. In the first case, the discovery of an intense cyanosis of the face, blood leakage from the respiratory orifices and the destruction of numerous alveolar septa with histologically demonstrated blood extravasation, was left for a longer agonic period and a no negligible rate of pulmonary barotrauma in determination of death. In the second case, the total absence of external pathological phenomena, internal and histological, allows us to hypothesise an onset of death that is faster and catalysed by helium and explained by the known sympathetic hyperactivation and consequent cardiac arrhythmic death described in similar plastic bag suffocation cases.

8.
Front Neurol ; 12: 626066, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34135841

RESUMEN

Age-related macular degeneration (AMD) showed several processes and risk factors in common with neurodegenerative disorders (NDDs). The present work explored the existence of genetic determinants associated with AMD, which may provide insightful clues concerning its relationship with NDDs and their possible application into the clinical practice. In this study, 400 AMD patients were subjected to the genotyping analysis of 120 genetic variants by OpenArray technology. As the reference group, 503 samples representative of the European general population were utilized. Statistical analysis revealed the association of 23 single-nucleotide polymorphisms (SNPs) with AMD risk. The analysis of epistatic effects revealed that ARMS2, IL6, APOE, and IL2RA could contribute to AMD and neurodegenerative processes by synergistic modulation of the expression of disease-relevant genes. In addition, the bioinformatic analysis of the associated miRNA variants highlighted miR-196a, miR-6796, miR-6499, miR-6810, miR-499, and miR-7854 as potential candidates for counteracting AMD and neurodegenerative processes. Finally, this work highlighted the existence of shared disease mechanisms (oxidative stress, immune-inflammatory response, mitochondrial dysfunction, axonal guidance pathway, and synaptogenesis) between AMD and NDDs and described the associated SNPs as candidate biomarkers for developing novel strategies for early diagnosis, monitoring, and treatment of such disorders in a progressive aging population.

9.
Genes (Basel) ; 12(2)2021 02 03.
Artículo en Inglés | MEDLINE | ID: mdl-33546406

RESUMEN

A custom plate of OpenArray™ technology was evaluated to test 60 single-nucleotide polymorphisms (SNPs) validated for the prediction of eye color, hair color, and skin pigmentation, and for personal identification. The SNPs were selected from already validated subsets (Hirisplex-s, Precision ID Identity SNP Panel, and ForenSeq DNA Signature Prep Kit). The concordance rate and call rate for every SNP were calculated by analyzing 314 sequenced DNA samples. The sensitivity of the assay was assessed by preparing a dilution series of 10.0, 5.0, 1.0, and 0.5 ng. The OpenArray™ platform obtained an average call rate of 96.9% and a concordance rate near 99.8%. Sensitivity testing performed on serial dilutions demonstrated that a sample with 0.5 ng of total input DNA can be correctly typed. The profiles of the 19 SNPs selected for human identification reached a random match probability (RMP) of, on average, 10-8. An analysis of 21 examples of biological evidence from 8 individuals, that generated single short tandem repeat profiles during the routine workflow, demonstrated the applicability of this technology in real cases. Seventeen samples were correctly typed, revealing a call rate higher than 90%. Accordingly, the phenotype prediction revealed the same accuracy described in the corresponding validation data. Despite the reduced discrimination power of this system compared to STR based kits, the OpenArray™ System can be used to exclude suspects and prioritize samples for downstream analyses, providing well-established information about the prediction of eye color, hair color, and skin pigmentation. More studies will be needed for further validation of this technology and to consider the opportunity to implement this custom array with more SNPs to obtain a lower RMP and to include markers for studies of ancestry and lineage.


Asunto(s)
Color del Ojo/genética , Antropología Forense/métodos , Técnicas de Genotipaje , Color del Cabello/genética , Pigmentación de la Piel/genética , Dermatoglifia del ADN , Genética Forense/tendencias , Genotipo , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Polimorfismo de Nucleótido Simple/genética
10.
Anticancer Res ; 41(1): 307-316, 2021 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-33419825

RESUMEN

BACKGROUND/AIM: Knowledge of Coronavirus 19 (COVID19) pathogenetic mechanisms is necessary to provide new treatment strategies. This study aims to assess how oncological disease impacts on the clinical course of COVID-19 patients. PATIENTS AND METHODS: From 1st March to 30th April 2020, 96 COVID-19 patients were classified according to clinical outcome as severe (n=67) and moderate (n=29). Demographic data, medical history, admission lymphocytes, procalcitonin (PCT), c-reactive-protein (CRP), D-dimer, and Interleukin-6 (IL-6) were collected. RESULTS: A statistically significant association was found between hypertension (p=0.007) and three or more comorbidities with severe outcomes (p=0.034). No statistical differences were found between the severe and moderate groups with regards to the rate of patients with past oncological history. However, no patient allocated in the moderate group had received oncological treatment within 12 months. Higher values of CRP, IL-6, D-Dimer and lower values of lymphocytes were reported in the severe group (p=0.0007, p=0.00386, p=0.041, and p=0.007, respectively). Using binary logistic regression, higher values of CRP (OR=8.861; p=0.012) and PCT were associated with a higher risk of severe outcome (OR=21.075; p=0.008). Within the oncological population, D-Dimer and IL-6 did not confirm their prognostic significance as in the general population (p>0.05). CONCLUSION: Specific prognostic factors for oncological patients should be designed for COVID-19 clinical practice.


Asunto(s)
Infecciones por Coronavirus/complicaciones , Coronavirus , Productos de Degradación de Fibrina-Fibrinógeno , Interleucina-6/sangre , Linfocitos , Neoplasias/sangre , Neoplasias/complicaciones , Anciano , Biomarcadores/sangre , COVID-19/complicaciones , Femenino , Humanos , Recuento de Linfocitos , Masculino , Persona de Mediana Edad , Análisis Multivariante , Neoplasias/mortalidad , Pronóstico
11.
Ig Sanita Pubbl ; 74(3): 249-263, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-30235466

RESUMEN

This paper describes the results of a retrospective study that analyzed the extent and role of diagnostic delays on the development and prognosis of oral cancer. We consulted the digital archives of the Anatomy and Pathology Department of the University Hospital of Modena and Reggio Emilia for the period from 2000 to 2016, to identify all patients with oral cavity lesions according to the SNOMED coding system. In total, 645 reports of squamous cell carcinoma of the oral cavity were retrieved. Data collected from the reports was supplemented with clinical information, with particular reference to the time of onset of the first signs and/or symptoms and the time elapsed between biopsy and definitive histological diagnosis following surgery. The average delay of patients from onset of signs and/or symptoms and seeking medical care was 112 days, or about 4 months. A longer delay was found for male with respect to female patients (151 days versus 82 days respectively; p < 0.015). An average delay of 40 days was observed between the first biopsy and the postoperative histological diagnosis. Results indicate that diagnostic delays occur frequently in oral tumours and can due to both the patient's wait-and-see conduct upon appearance of the first signs and/or symptoms, and to the organizational and communicative deficiencies among the different medical specialties. In light of these results, we make the recommendation to organize information campaigns through the Public Health Departments and specific screening programs, and to introduce an operational protocol for the prevention and early diagnosis of oral cancer, involving general medicine practitioners and dentists as the main promoters.


Asunto(s)
Diagnóstico Tardío , Neoplasias de la Boca , Femenino , Humanos , Masculino , Neoplasias de la Boca/diagnóstico , Estudios Retrospectivos , Factores de Tiempo
12.
Ann Ist Super Sanita ; 54(2): 96-103, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-29916413

RESUMEN

INTRODUCTION: Health care in prisons represents an important part of public health due to the interaction between prisons and society. Women prisoners have needs that distinguish them from male prisoners, however little is known about how those needs are met. The aim of the study was to gather information about the needs of women in prison and to identify which of their needs are the most or the least met. METHODS: This study investigated the needs of detained women using a newly developed Questionnaire based on Gordon's model. In this descriptive study, data were collected from a convenient sample of women recruited from two Italian prisons. Data analysis used descriptive statistics. RESULTS: Fifty-five women (response rate = 92%) completed the self-reported questionnaire. Our findings showed that physical needs are met worse than psychological and social needs. The majority of physical needs were related to the inability to meet food preferences and the difficulty in respecting food requirements related to disease and by religion. The women experienced a loss of privacy, and they need more time for improving the quality of their relationships. The majority of the participants (65%) declared that they suffer from psychological disorders with an alarming percentage (29%) stating that they had thoughts of self-harm. They commonly consume tobacco (87.3%), and abuse substances (20%). DISCUSSION AND CONCLUSIONS: The recognition of multi-dimensional women's needs is of primary importance to create opportunities to support incarcerated women and to build health-promoting gender-sensitive interventions.


Asunto(s)
Necesidades y Demandas de Servicios de Salud/estadística & datos numéricos , Prisioneros/estadística & datos numéricos , Mujeres , Adulto , Femenino , Humanos , Italia , Trastornos Mentales/epidemiología , Salud Mental , Persona de Mediana Edad , Prisiones , Encuestas y Cuestionarios
13.
Ann Ital Chir ; 89: 70-74, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-29629889

RESUMEN

Necrotizing fasciitis is one of the most dangerous complication of an abscess and it is still a disease with a high mortality. In this work, we decided to consider two cases: the first one concerns a male subject, aged 66, deceased because of a fatal necrotizing fasciitis associated to a cervical descending mediastinitis, which evolved from a primary peritonsillar abscess; the second is about a 50-year-old woman with a perineal abscess, then evolved into necrotizing fasciitis associated to a fatal septis shock. After a systematic consideration of necrotizing fasciitis as pathology and an analysis of the possible related risks to a diagnostic or therapeutic delay, we analyzed the particular history of both cases to underline the possible critical issues in professional behavior of the medical staff intervened. KEY WORDS: Abscess, Medical malpractice, Mortality, Necrotizing fasciitis, Professional liability.


Asunto(s)
Diagnóstico Tardío , Fascitis Necrotizante , Responsabilidad Legal , Mala Praxis , Tiempo de Tratamiento , Absceso/complicaciones , Absceso/cirugía , Antibacterianos/uso terapéutico , Celulitis (Flemón)/etiología , Celulitis (Flemón)/terapia , Terapia Combinada , Complicaciones de la Diabetes , Drenaje , Fascitis Necrotizante/etiología , Resultado Fatal , Femenino , Humanos , Oxigenoterapia Hiperbárica , Masculino , Mediastinitis/etiología , Persona de Mediana Edad , Absceso Peritonsilar/complicaciones , Absceso Peritonsilar/tratamiento farmacológico , Absceso Peritonsilar/cirugía , Complicaciones Posoperatorias/etiología , Choque Séptico/etiología , Enfisema Subcutáneo/etiología , Enfermedades de la Vulva/complicaciones , Enfermedades de la Vulva/cirugía
14.
Med Leg J ; 86(3): 150-152, 2018 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-29299947

RESUMEN

As suicide by ligature strangulation is rare, the correct medico-legal diagnosis may be difficult to establish if there is no clear supporting circumstantial evidence. We report an unusual case of suicide by strangulation with a double ligature. Investigation of the scene of death and pathological findings at autopsy are reported and discussed. We emphasise the importance of an external examination and an on-the-spot investigation.


Asunto(s)
Ligadura/efectos adversos , Traumatismos del Cuello/complicaciones , Suicidio/psicología , Anciano , Asfixia/mortalidad , Autopsia/métodos , Femenino , Patologia Forense/métodos , Humanos , Ligadura/métodos , Traumatismos del Cuello/patología
15.
Prog Retin Eye Res ; 63: 132-146, 2018 03.
Artículo en Inglés | MEDLINE | ID: mdl-29197628

RESUMEN

The review essentially describes genetic and non-genetic variables contributing to the onset and progression of exudative Age-related Macular Degeneration (AMD) in Italian population. In particular, AMD susceptibility within Italian population is contributed to by genetic variants, accounting for 23% of disease and non-genetic variants, accounting for 10% of AMD. Our data highlighted prominent differences concerning genetic and non-genetic contributors to AMD in our cohort with respect to worldwide populations. Among genetic variables, SNPs of CFH, ARMS2, IL-8, TIMP3, SLC16A8, RAD51B, VEGFA and COL8A1 were significantly associated with the risk of AMD in the Italian cohort. Surprisingly, other susceptibility variants described in European, American and Asiatic populations, did not reach the significance threshold in our cohort. As expected, advanced age, smoking and dietary habits were associated with the disease. In addition, we also describe a number of gene-gene and gene-phenotype interactions. In fact, AMD-associated genes may be involved in the alteration of Bruch's membrane and induction of angiogenesis, contributing to exacerbate the damage caused by aging and environmental factors. Our review provides an overview of genetic and non-genetic factors characterizing AMD susceptibility in Italian population, outlining the differences with respect to the worldwide populations. Altogether, these data reflect historical, geographic, demographic and lifestyle peculiarities of Italian population. The role of epigenetics, pharmacogenetics, comorbities and genetic counseling in the management of AMD patients have been described, in the perspective of the application of a "population-specific precision medicine" approach addressed to prevent AMD onset and improve patients' quality of life.


Asunto(s)
Degeneración Macular/genética , Degeneración Macular/terapia , Medicina de Precisión , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Farmacogenética , Fenotipo , Factores de Riesgo
16.
Oncotarget ; 8(56): 95401-95411, 2017 Nov 10.
Artículo en Inglés | MEDLINE | ID: mdl-29221136

RESUMEN

To date, the genes associated with Psoriatic Arthritis (PsA) are principally involved in inflammation, immune response and epidermal differentiation, without any information about the relationship between disease and bone metabolism genes. Our work was focused on 5q31 locus, which contains several genetic variants significantly associated with PsA. The study involved 1526 subjects (500 PsA, 426 PsV, 600 controls). The region was evaluated by selecting and genotyping the SNPs of interest by Real Time PCR and direct sequencing. The results were subjected to biostatistic and bioinformatic analysis. The case-control study highlighted a significant association between KIF3A/IL-4 and PsA, but not with PsV (Psoriasis Vulgaris) patients. In addition, the haplotype analysis revealed two haplotypes significantly associated with PsA susceptibility. The Linkage Disequilibrium (LD) study showed the presence of a specific block in high LD within 132,692,628-132,737,638 bp of 5q31, giving additional evidence of specific association of the 5q31 region in PsA patients. Moreover, KIF3A expression was assessed by immunohistochemistry assays which showed a marked and significant difference of KIF3A expression between pathological and normal tissues. Our analysis described KIF3A and IL-4 as novel susceptibility genes for PsA, suggesting a clear implication of bone metabolism genes in the disease etiopathogenesis.

17.
Ann Ist Super Sanita ; 53(2): 167-169, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-28617265

RESUMEN

The neurologic sequelae post-measles are less common than other complications measles-related and can lead to severe disability or death: primary measles encephalitis (PME), acute post-infectious measles encephalomyelitis (APME), measles inclusion body encephalitis (MIBE), and subacute sclerosing panencephalitis (SSPE). SSPE syndrome can affect people years from the acute measles virus infection, as result of the persistence of defective viral particles in brain cells. Clinical onset typically manifests with progressive intellectual deterioration, behavioral changes, and myoclonic jerks. The course of SSPE in the majority of affected children is that of a progressive worsening with fatal outcome within two years. This report described an Italian case of fulminant SSPE syndrome that led to death within few months from the initial onset.


Asunto(s)
Epilepsias Mioclónicas/etiología , Panencefalitis Esclerosante Subaguda/complicaciones , Preescolar , Diagnóstico Diferencial , Epilepsias Mioclónicas/diagnóstico , Epilepsias Mioclónicas/diagnóstico por imagen , Resultado Fatal , Femenino , Humanos , Imagen por Resonancia Magnética , Panencefalitis Esclerosante Subaguda/diagnóstico , Panencefalitis Esclerosante Subaguda/diagnóstico por imagen
18.
Forensic Sci Int Genet ; 4(5): e131-3, 2010 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-20457086

RESUMEN

Allele and genotype frequencies of 25 SNPs previously selected and validated for forensic purposes were assessed in 250 unrelated individuals originating from five different countries of Europe (Spain, Croatia, Bulgaria, Turkey and Serbia). All the SNPs generated extremely low F(st) values confirming our previous results on Italian, African (Benin) and Asian (Mongolian) populations. As a consequence of such F(st) values we observed similar values of random match probability across the populations: 2.26 x 10(-10) in the Spanish population, 2.13 x 10(-10) in the Croatian population, 4.21 x 10(-10) in the Bulgarian population, 2.52 x 10(-10) in the Serbian population and 1.46 x 10(-10) in the Turkish population.


Asunto(s)
Genética de Población , Polimorfismo de Nucleótido Simple , Secuencia de Bases , Cartilla de ADN , Genética Forense , Humanos , Probabilidad
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