A GHEP-ISFG collaborative study on the genetic variation of 38 autosomal indels for human identification in different continental populations.

A collaborative effort was carried out by the Spanish and Portuguese Speaking Working Group of the International Society for Forensic Genetics (GHEP-ISFG) to promote knowledge exchange between associate laboratories interested in the implementation of indel-based methodologies and build allele frequency databases of 38 indels for forensic applications. These databases include populations from different countries that are relevant for identification and kinship investigations undertaken by the participating laboratories. Before compiling population data, participants were asked to type the 38 indels in blind samples from annual GHEP-ISFG proficiency tests, using an amplification protocol previously described. Only laboratories that reported correct results contributed with population data to this study. A total of 5839 samples were genotyped from 45 different populations from Africa, America, East Asia, Europe and Middle East. Population differentiation analysis showed significant differences between most populations studied from Africa and America, as well as between two Asian populations from China and East Timor. Low FST values were detected among most European populations. Overall diversities and parameters of forensic efficiency were high in populations from all continents.

Cáncer testicular y criptorquidia. Mito o realidad / Testicular cancer and cryptorchidism: myth or reality

OBJETIVO: Valorar el antecedente de criptorquidia en pacientes con cáncer testicular. MATERIAL Y MÉTODO: Realizamos un estudio retrospectivo de 175 pacientes diagnosticados de tumoraciones malignas, en nuestro hospi-tal, desde 1999 a 2010. Analizamos el antecedente de criptorquidia y características de la misma, localización testicular, histología y edad de intervención. RESULTADOS: De los 175 pacientes con cáncer testicular, 5 pacientes presentaron antecedente de criptorquidia (2,8%). Sólo en 2 pacientes se había efectuado una orquidopexia. La edad media de presentación del tumor fue de 31 años y el tipo histológico fue diferente según el tratamiento aplicado a la criptorquidia. En 2 pacientes el tumor se de-sarrolló en el testículo contralateral. La odds ratio de presentación de degeneración maligna es de 1,9. CONCLUSIONES: Nuestros resultados reflejan que la asociación criptorquidia-cáncer testicular es menor que la descrita en el pasado. Un manejo adecuado y protocolizado de la criptorquidia previene la malignización, presentando estos pacientes una incidencia casi similar al resto de la población

OBJECTIVE: To evaluate the previous history of cryptorchidism in patients with testicular cancer. MATERIALS AND METHODS: We carried out a study using 175 patients diagnosed with testicular cancer, in our hospital, from 1999 to 2010. We analyzed the previous history of cryptorchidism and its characteristics, testicular placing, histology and intervention age. RESULTS: 5 out of the 175 patients (2,8%) with testicular neoplasm presented a history of cryptorchidism, The average age was 31 years old, an orchidopexy was only carried out in 2 patients. The histology was different depending on the treatment chosen to battle cryptorchi-dism and in 2 cases it developed in the adjoining testicle. The average ratio was of 1,9. CONCLUSIONS: Our results reflect that the association of cryptor-chidism with testicular neoplasm is in fact lower than in the past. A good and proper handling of cryptorchidism can prevent it from turning malignant, presenting these patients similar incidences to the rest of the population

Genetic characterization, at the mitochondrial and nuclear DNA levels, of five Canary Island dog breeds.

Many studies presenting genetic analysis of dog breeds have been conducted without the inclusion of island dog breeds, although isolation can be one of the main factors in their origin. Here we report the genetic analysis at the nuclear and mitochondrial DNA levels of five Canary Island dog breeds (Canarian Warren Hound, Canary Island Mastiff, Garafiano Shepherd, La Palma Rat-Hunter and El Hierro Wolfhound) to fill this gap and, at the same time, genetically characterize these breeds. We identified 168 alleles in autosomal microsatellites and 16 mitochondrial haplotypes. Observed and expected heterozygosities ranged from 0.556 to 0.783 and from 0.737 to 0.943 respectively. Furthermore, three haplotypes were newly described and exclusive to a particular breed (A17+ in the Canary Island Mastiff; A33+ in the Canarian Warren Hound; Bi in the La Palma Rat-Hunter). The outcome of our analyses also revealed different breed histories consistent with historical documents and hypothetical origin designations. Although mtDNA haplotypes showed poor breed discriminating power, autosomal markers allowed a clear clustering of each single population. We expect that our results, together with further analyses, will help to make the population histories of island dog breeds clearer.

GHEP-ISFG proficiency test 2011: Paper challenge on evaluation of mitochondrial DNA results.

The GHEP-ISFG Working Group performed a collaborative exercise to monitor the current practice of mitochondrial (mt)DNA reporting. The participating laboratories were invited to evaluate a hypothetical case example and assess the statistical significance of a match between the haplotypes of a case (hair) sample and a suspect. A total of 31 forensic laboratories participated of which all but one used the EMPOP database. Nevertheless, we observed a tenfold range of reported LR values (32-333.4), which was mainly due to the selection of different reference datasets in EMPOP but also due to different applied formulae. The results suggest the need for more standardization as well as additional research to harmonize the reporting of mtDNA evidence.

Microsatellite loci isolation in the Canarian common chaffinch (Fringilla coelebs) and their utility in other Canarian finches.

The taxonomic classification of the common chaffinch (Fringilla coelebs) that inhabits the Canary Islands has been under debate for decades, mainly due to the absence of nuclear DNA analyses. In this study we describe the isolation and characterization of ten microsatellite loci (AAAG, AAAT and GT) from a La Palma specimen using an enrichment protocol. Two loci were monomorphic in the populations analysed (La Gomera and La Palma), but the remaining ones presented 2 or more alleles, with an average of 11.63 alleles per locus and an average observed heterozygosity of 0.735 (n = 44). All loci were tested for their utility in other Canarian populations and other finch species.

Vasculitis leucocitoclástica secundaria a ciprofloxacino / Ciprofloxacin-induced leukocytoclastic vasculitis

La vasculitis leucocitoclástica, también denominada predominantemente cutánea, es la manifestación cutánea a la presencia en el organismo de un antígeno, generalmente exógeno, y de gran variabilidad etiopatogénica. Que ocasione una afectación casi exclusivamente cutánea y no de otros órganos, con frecuencia afectados en otros tipos de vasculitis, da lugar a que se trate de un proceso por lo general leve y reversible tras la identificación del antígeno responsable, hecho que, por otra parte, supone todo un reto diagnóstico para el clínico. Se presenta el caso de un varón de 84 años diagnosticado de vasculitis leucocitoclástica secundaria a tratamiento con ciprofloxacino. Realizamos una revisión de las causas de esta enfermedad así como de su diagnóstico y tratamiento, que en el caso que nos ocupa suele ser reversible tras la supresión del tratamiento antibiótico (AU)

Occlusal stabilization appliances. Evidence of their efficacy.

BACKGROUND: There is substantial controversy regarding the value of occlusal appliances for managing temporomandibular joint disorders. This article specifically assesses whether the evidence is sufficient to judge occlusal appliances as being efficacious for the management of localized masticatory myalgia, arthralgia or both. A major confounder is that few studies have measured or evaluated whether subjects had strong, ongoing parafunctional activity (such as clenching or grinding) and whether appliances influenced this behavior. LITERATURE REVIEWED: The authors evaluated four placebo-controlled studies, several randomized wait-list controlled studies and several random-assignment treatment-comparison studies. Data from the wait-list condition studies vs. those from the occlusal appliance condition studies consistently suggested that the latter treatment's effect on patient symptom level is far more than that of no treatment on a wait-list group's condition. In contrast, the studies on placebo-controlled vs. occlusal appliance studies yielded a mix of data: two showed a positive benefit of occlusal vs. nonoccluding appliances, and two showed a null effect or no difference. CONCLUSIONS: Considering all of the available data (pro and con), the authors conclude that the use of occlusal appliances in managing localized masticatory myalgia, arthralgia or both is sufficiently supported by evidence in the literature. CLINICAL IMPLICATIONS: The mechanism of action by which occlusal appliances affect localized myalgia and arthralgia probably is behavioral modification of jaw clenching. However, if the behavior continues unabated, even the best splint will not work.

[Human acquired immunodeficiency syndrome (AIDS)]. / Síndrome de inmunodeficiencia humana adquirida (SIDA).

PIP: This work, intended primarily for dentists, provides detailed information on the mechanism of action of the AIDS virus, its epidemiology and most common routes of infection, the clinical manifestations of HIV infection, and related oral lesions of relevance to the dentist. The work also recommends ways in which dentists can aid in diagnosis, avoid contaminating patients, and avoid being infected themselves by seropositive patients. The article begins by describing retroviruses and their mode of action and then focuses on the pathogenic mechanism of the HIV virus, which preferentially attacks T4 helper lymphocytes. The lymphocytes are destroyed by the viruses multiplying in their interiors. The decline in the number of T4 lymphocytes results in diminished capacity of the immune system to respond, favoring in turn the appearance of certain tumors and opportunistic infections that eventually prove fatal. The virus may also affect cells of the central nervous system, producing dementia and other disorders. Although AIDS was initially observed primarily in male homosexuals and drug addicts in the US and Europe, it has had a relatively even sex ratio in Africa, where few victims have been homosexuals or drug addicts. The virus is now found in most of the world's countries and is known to be spread primarily through sexual contact. Other routes of transmission are by contaminated hypodermic needles, prenatal infection, and infected blood transfusions. There is still no good evidence that saliva can be a route of contamination. Lesions of the oral cavity that indicate immune deficiency include Candidiasis, gingivostomatitis, necrosing ulcer, Histoplasmosis, Herpes simplex, papillomas and condylomas, Leukoplasia vellosa, Kaposi's sarcoma, some cancers, and non-Hodgkin's lymphoma. European and American studies indicate that 75% of AIDS patients have oral or oral-esophageal candidiasis, which can occur in 3 forms. Most of these oral manifestations are very rare in the general population. The dentist should wear protective clothing to prevent direct transmission and should carefully discard or disinfect used materials and supplies. Tools and the work area should be carefully decontaminated after each patient is seen.^ieng