PopAffiliator: online calculator for individual affiliation to a major population group based on 17 autosomal short tandem repeat genotype profile.

Because of their sensitivity and high level of discrimination, short tandem repeat (STR) maker systems are currently the method of choice in routine forensic casework and data banking, usually in multiplexes up to 15-17 loci. Constraints related to sample amount and quality, frequently encountered in forensic casework, will not allow to change this picture in the near future, notwithstanding the technological developments. In this study, we present a free online calculator named PopAffiliator ( http://cracs.fc.up.pt/popaffiliator ) for individual population affiliation in the three main population groups, Eurasian, East Asian and sub-Saharan African, based on genotype profiles for the common set of STRs used in forensics. This calculator performs affiliation based on a model constructed using machine learning techniques. The model was constructed using a data set of approximately fifteen thousand individuals collected for this work. The accuracy of individual population affiliation is approximately 86%, showing that the common set of STRs routinely used in forensics provide a considerable amount of information for population assignment, in addition to being excellent for individual identification.

A GEP-ISFG collaborative study on the optimization of an X-STR decaplex: data on 15 Iberian and Latin American populations.

In a collaborative work carried out by the Spanish and Portuguese ISFG Working Group (GEP-ISFG), a polymerase chain reaction multiplex was optimized in order to type ten X-chromosome short tandem repeats (STRs) in a single reaction, including: DXS8378, DXS9902, DXS7132, DXS9898, DXS6809, DXS6789, DXS7133, GATA172D05, GATA31E08, and DXS7423. Using this X-decaplex, each 17 of the participating laboratories typed a population sample of approximately 200 unrelated individuals (100 males and 100 females). In this work, we report the allele frequencies for the ten X-STRs in 15 samples from Argentina (Buenos Aires, Córdoba, Río Negro, Entre Ríos, and Misiones), Brazil (São Paulo, Rio de Janeiro, Paraná, and Mato Grosso do Sul), Colombia (Antioquia), Costa Rica, Portugal (Northern and Central regions), and Spain (Galicia and Cantabria). Gene diversities were calculated for the ten markers in each population and all values were above 56%. The average diversity per locus varied between 66%, for DXS7133, and 82%, for DXS6809. For this set of STRs, a high discrimination power was obtained in all populations, both in males (> or =1 in 5 x 10(5)) and females (> or =1 in 3 x 10(9)), as well as high mean exclusion chance in father/daughter duos (> or =99.953%) and in father/mother/daughter trios (> or =99.999%). Genetic distance analysis showed no significant differences between northern and central Portugal or between the two Spanish samples from Galicia and Cantabria. Inside Brazil, significant differences were found between Rio de Janeiro and the other three populations, as well as between São Paulo and Paraná. For the five Argentinean samples, significant distances were only observed when comparing Misiones with Entre Ríos and with Río Negro, the only two samples that do not differ significantly from Costa Rica. Antioquia differed from all other samples, except the one from Río Negro.

Results of the 2003-2004 GEP-ISFG collaborative study on mitochondrial DNA: focus on the mtDNA profile of a mixed semen-saliva stain.

We report here a review of the seventh mitochondrial DNA (mtDNA) exercise undertaken by the Spanish and Portuguese working group (GEP) of the International Society for Forensic Genetics (ISFG) corresponding to the period 2003-2004. Five reference bloodstains from five donors (M1-M5), a mixed stain of saliva and semen (M6), and a hair sample (M7) were submitted to each participating laboratory for nuclear DNA (nDNA; autosomal STR and Y-STR) and mtDNA analysis. Laboratories were asked to investigate the contributors of samples M6 and M7 among the reference donors (M1-M5). A total of 34 laboratories reported total or partial mtDNA sequence data from both, the reference bloodstains (M1-M5) and the hair sample (M7) concluding a match between mtDNA profiles of M5 and M7. Autosomal STR and Y-STR profiling was the preferred strategy to investigate the contributors of the semen/saliva mixture (M6). Nuclear DNA profiles were consistent with a mixture of saliva from the donor (female) of M4 and semen from donor M5, being the semen (XY) profile the dominant component of the mixture. Strikingly, and in contradiction to the nuclear DNA analysis, mtDNA sequencing results yield a more simple result: only the saliva contribution (M4) was detected, either after preferential lysis or after complete DNA digestion. Some labs provided with several explanations for this finding and carried out additional experiments to explain this apparent contradictory result. The results pointed to the existence of different relative amounts of nuclear and mtDNAs in saliva and semen. We conclude that this circumstance could strongly influence the interpretation of the mtDNA evidence in unbalanced mixtures and in consequence lead to false exclusions. During the GEP-ISFG annual conference a validation study was planned to progress in the interpretation of mtDNA from different mixtures.

Mitochondrial DNA error prophylaxis: assessing the causes of errors in the GEP'02-03 proficiency testing trial.

We report the results of the Spanish and Portuguese working group (GEP) of the International Society for Forensic Genetics (ISFG) Collaborative Exercise 2002-2003 on mitochondrial DNA (mtDNA) analysis. Six different samples were submitted to the participating laboratories: four blood stains (M1-M2-M3-M4), one mixture blood sample (M5), and two hair shaft fragments (M6). Most of the labs reported consensus results for the blood stains, slightly improving the results of previous collaborative exercises. Although hair shaft analysis is still carried out by a small number of laboratories, this analysis yielded a high rate of success. On the contrary, the analysis of the mixture blood stain (M5) yielded a lower rate of success; in spite of this, the whole results on M5 typing demonstrated the suitability of mtDNA analysis in mixture samples. We have found that edition errors are among the most common mistakes reported by the different labs. In addition, we have detected contamination events as well as other minor problems, i.e. lack of standarization in nomenclature for punctual and length heteroplasmies, and indels. In the present edition of the GEP-ISFG exercise we have paid special attention to the visual phylogenetic inspection for detecting common sequencing errors.

[Comparison of three methods for DNA extraction from bone remains]. / Comparación de tres métodos de extracción de ADN a partir de restos óseos.

Extraction of amplifiable DNA is a frequent problem when working with degraded specimens like bone samples. The possibility of obtaining as much information as possible from these samples has a particular significance in many forensic investigations. The present investigation was aimed to assess the efficiency of three organic extraction methods for purifying amplifiable DNA from bone samples. The amount of nucleic acids obtained, the success rate in the amplification of DNA microsatellite (STR) markers and amelogenin by PCR, the influence of PCR inhibitors and environmental conditions, and where the samples were found before their processing in the laboratory, were all evaluated in this investigation for the three methods. Results showed that method A (a modification of FBI method for DNA extraction) performed better in producing not a higher amount but a better quality amplifiable DNA, in comparison with the other two methods evaluated. It was also demonstrated that the quality of the DNA to be amplified by PCR was influenced by the presence of inhibitors and/or contaminants and the environmental conditions where the bone sample was taken from. The worst conditions were observed from aquatic environments. The results suggest that the implementation of some specific modifications in the method A (use of purification columns, reliable quantification methods and different dilutions) would help to obtain better DNA extracts intended to be used in different molecular identification tests.

Epidemiology of rapes in Costa Rica: characterization of victims, perpetrators and circumstances surrounding forced intercourse.

Since the year 2000, the number of rapes in Costa Rica has increased at a rate of 42 cases per year. In 2011, 1786 rape cases were reported to the prosecution offices throughout the country, but only 1081 reports continued through the investigation process by the Judicial Investigation Agency. A randomly collected sample of 272 reports received by Judicial Investigation Agency, between July 2012 and June 2013, were prospectively studied. The analysis was limited to cases reported within 30 days following the rape. Results indicate that most of the provinces in the country show an incidence of about 38 cases/100,000 inhabitants. Ninety-six percent of the victims were women, 50% of which were between 10 and 19 years old. More than 99.5% of violators were men. The rape was perpetrated by a single aggressor in 85% of the cases. It was found that 48% of the victims were within the first 11 days of their menstrual cycle at the time of the attack. Twenty-nine percent of rapes occurred in "high rape-risk" circumstances--e.g., victims attacked by strangers in public outdoors or indoors. Twenty-five percent of rapes occur in "moderate rape-risk" circumstances--e.g., victims attacked indoors at public locations or at the home other than the victim's by relatives, sentimental partners or acquaintances. Fifteen percent of rapes occurred in "low rape-risk" circumstances--e.g., victims attacked in their homes by relatives or sentimental partners. In 67% of the cases the perpetrator was an acquaintance of the victim. Eleven percent of the cases corresponded to rapes in which the perpetrator was a partner or ex-partner of the victim. Fourteen percent and 25% of rapes could be classified as "proactive drug-facilitated rapes" or "opportunistic drug-facilitated rapes", respectively. Semen in the vaginal fluid of victims and the genetic profile of the alleged perpetrator were detected in 55% and 33% of the cases, respectively.

Empleo de la toxina botulínica tipo a en el tratamiento del espasmo hemifacial

Los trastornos neuromusculares son afecciones que alteran la vida de cualquier persona, movimientos musculares incontrolados que causan molestias e interfieren en la rutina diaria. Esta revisión bibliográfica se ha llevado a cabo con la finalidad de relacionar uno de los agentes químicos más populares en la actualidad para uso estético, la Toxina Botulínica (Botox), con el tratamiento de una entidad que necesita ser tratada más allá de las banalidades de la belleza, como lo es el Espasmo Hemifacial (EHF). Son las mujeres de la 5 década de la vida quienes tienen el mayor riesgo de sufrir esta enfermedad que afecta a los músculos inervados por el nervio facial, con una incidencia de 7.4 a 14.5 casos por cada 100.000 habitantes. Estos pueden ser tratados con varias alternativas terapéuticas, pero es la Toxina Botulínica una de las más usadas, produciendo relajación en el punto exacto del músculo donde se inyecta, con el beneficio de no interferir en la trasmisión de los impulsos nerviosos, sin embargo uno de sus efectos colaterales más destacados es el botulismo, si se administra a altas dosis. Las opciones para tratar una patología pueden ser innumerables, lo importante es analizar la severidad del caso, el factor riesgo-beneficio, las condiciones sistémicas del paciente y la efectividad, duración y costo del tratamiento.

The neuromuscular disorders are a group of conditions that affect the nerves that control the voluntary muscles and can interfere with the activities of daily living of any given person. One of these disorders is a condition known as Hemifacial Spam (HFS) which is characterized by frequent involuntary contractions of the ipsilateral muscles innervated by the facial nerve (seventh cranial nerve). This condition more frequently affects women in the fifth decade of life and its incidence among the general population is 7.4 to 14.5 cases per 100.000 person/years. One of the most common therapeutic approaches for this condition is the use of Botulinum toxin (commonly known as Botox). This toxin works by causing the relaxation of the injected muscle reducing the abnormal contractions, though if administered in higher doses than recommended, this therapy could cause a form of botulism.: This toxin produces the paralysis of the myoneural junction causing a neuromuscular blocking effect and reducing abnormal muscle contraction. The purpose of this review is to evaluate the effects of the Botulinum toxin in the treatment of FHS, its effectiveness, side effects, duration and the risk benefits of this therapy.

Comparación de tres métodos de extracción de ADN a partir de restos óseos / Comparison of three methods for DNA extraction from bone remains

Extraction of amplifiable DNA is a frequent problem when working with degraded specimens like bone samples. The possibility of obtaining as much information as possible from these samples has a particular significance in many forensic investigations. The present investigation was aimed to assess the efficiency of three organic extraction methods for purifying amplifiable DNA from bone samples. The amount of nucleic acids obtained, the success rate in the amplification of DNA microsatellite (STR) markers and amelogenin by PCR, the influence of PCR inhibitors and environmental conditions, and where the samples were found before their processing in the laboratory, were all evaluated in this investigation for the three methods. Results showed that method A (a modification of FBI method for DNA extraction) performed better in producing not a higher amount but a better quality amplifiable DNA, in comparison with the other two methods evaluated. It was also demonstrated that the quality of the DNA to be amplified by PCR was influenced by the presence of inhibitors and/or contaminants and the environmental conditions where the bone sample was taken from. The worst conditions were observed from aquatic environments. The results suggest that the implementation of some specific modifications in the method A (use of purification columns, reliable quantification methods and different dilutions) would help to obtain better DNA extracts intended to be used in different molecular identification tests.

Reconstrucción de la articulación temporomandibular con injertos costocondrales / Surgical corectiom of temporomandibular joint with costocondral transplanted

El presente artículo trata de dar a conocer, primero una revisión bibliográfica acerca de los estudios, investigaciones y observaciones clínicas reportadas en la literatura, sobre las reconstrucciones de la ATM con injertos costocondrales y posteriormente la presentación de un caso que fue atendido por consulta externa en el servicio de Cirugía Maxilofacial en el Hospital Dr. Jose Gregorio Hernandez ubicado en los Magallanes de Catia. En dicho hospital han sido tratados seis casos de reconstrucción de la ATM con injertos costocondrales de los cuales: Dos han sido por anquilosis en la ATM. Tres por fracturas condilares no tratadas a tiempo. Y este último por osteoartritis deformante de la ATM derecha por hipertrofia condilar. El primero de los casos tiene 6 años de evolución el cual se encuentra en perfectas condiciones y el penultimo tiene dos años de evolución y también con resultados satisfactorios

Proceso terapéutico en departamento judicial servicio B del Instituto Psiquiátrico "Dr. José Horwitz Barak" / Therapeutic process in the judicial departament of Psychiatric Institute Dr. José Horwitz Barak

Luego de una breve reseña histórica del Departamento Judicial, se describen las actividades terapéuticas que se realizan actualmente, dando cuenta del funcionamiento de la Unidad en el período comprendido entre los meses de octubre de 1989 y agosto de 1990

Infecciones Odontogénicas ceulitis / Odontogenic infections ceulitis

De la revisión de la literatura se deduce, que existen diversos tipos y grados de infección en el organismo; específicamente en el medio bucal, siendo la celulitis una entidad patológica importante dentro de estas infecciones. Se analiza sus diferentes estadios y distintos tipos de terapia quirúrgica y farmacológico de acuerdo a los últimos adelantos de la ciencia.