PIMA: A population informative multiplex for the Americas.

We describe an ancestry-informative autosomal SNP multiplex designed to be a small-scale, flexible panel that can complement uniparental markers in assessing the American variability (i.e. pre-Colombian) found in contemporary indigenous American populations. This study centered on choosing SNPs with the specific characteristics of: 1) extreme allele frequency differences between indigenous Americans and the African, European and East Asian population groups that contribute to present-day population variation in the Americas; 2) high informativeness-for-assignment In values; and 3) well-spaced genomic distribution and chromosomal separation from existing small-scale forensic ancestry marker sets. The resulting capillary electrophoresis SNaPshot single base extension test was named: PIMA (Population Informative Multiplex for the Americas), comprising 26 autosomal SNPs, a single X-chromosome SNP plus the amelogenin sex marker adapted for SNaPshot. PIMA complements the established 34plex forensic ancestry panel to provide a powerful and simple tool for the analysis of American populations, including those with admixed histories, commonly encountered in America. Comparing the results obtained with the combined marker panels of PIMA and 34plex to SNP data from a much larger ancestry panel allowed us to gauge their relative efficiency. PIMA+34plex gives equivalent power to the 314-SNP 'LACE' genomic ancestry control panel, while requiring a much smaller genotyping effort. The ancestry profiles and genetic structure of 22 populations spread across the American continent were estimated using PIMA+34plex data, and those estimates were contrasted with information provided by uniparental markers (mtDNA and Y-chromosome loci) for a small set of admixed individuals from Venezuela. Our results indicate that an American genetic component is efficiently detected in contemporary American populations using a small set of ancestry informative SNPs, and these co-ancestry estimates are consistent with the known history and demography of the Americas. The small scale and high population differentiation power of PIMA, particularly when combined with 34plex, provides a practical and powerful tool for genetic studies of American populations as well as forensic DNA analyses.

Tenodesis vs. tunelización del tendón flexor largo de los dedos en el tratamiento de la disfunción del tendón tibial posterior en estadio II / Tenodesis Vs. Tunneling of Flexor tendon length of the fingers in the treatment of Posterior Tibial Tendon Dysfunction Stage II

El tratamiento , en el estadio II de disfunción del tendón tibial posterior (DTTP) consiste en la transferencia del tendón Flexor Largo de los dedos (FLD) para suplir al tendón tibial posterior insuficiente y un procedimiento óseo para corregir la deformidad adquirida del retropié. En este estudio, evaluamos la función y eficacia de la transferencia del FLD tunelizado en el escafoide tarsiano vs la tenodesis del mismo al muñón distal del tendón tibial posterior. Material y método: Se realizó un estudio retrospectivo y comparativo de los pacientes intervenidos por esta patología en la Unidad de Pie y Tobillo del HCC, entre los años 2005 y 2012. En 27 pacientes se realizó tunelización del FLD en el escafoides tarsiano y en 49 pacientes se realizó tenodesis del FLD al muñón distal del tendón tibial posterior; en todos los pacientes se realizó un procedimiento óseo para corregir la deformidad adquirida del retropié. Se midió goniometricamente, inversión y flexión plantar del pie al año de postoperatorio en todos los pacientes y se comparó con el pie sano. Se evaluó pérdida de función ó dolor en zona de la transferencia. El análisis estadístico se realizó con t-student. Resultados: 6 pacientes presentaron DTTP bilateral y fueron descartados de este estudio. Los pacientes con tunelización del FLD en el escafoides tarsiano, presentaron una media de 62% de inversión y 86% de flexión plantar, los pacientes con tenodesis de FLD, presentaron una media de 86% de inversión y 89% de flexión plantar. Perdieron función del tendón, 1 paciente con tendón tunelizado, y 2 con tenodesis; presentaron dolor en la zona de la transferencia 2 pacientes con tenodesis del FLD. Conclusión: De nuestro estudio podemos concluir, que la tenodesis del FLD al muñón distal del tendón Tibial posterior, produce una mejor inversión del pie que la tunelización del FLD en el escafoides tarsiano(AU)

The surgical treatment of stage II posterior tibial tendon dysfunction (PTTD) is the transfer of the flexor digitorum longus tendon (FDL) to supply the posterior tibial tendon and a bone procedure to correct the acquired deformity of the hindfoot. In this study we evaluated the role and effectiveness of the FDL transfer to a tarsal scaphoid tunnel vs tenodesis of the distal stump of the posterior tibial tendon. Materials and methods: We performed a retrospective comparative study of patients with this disease in the Foot and Ankle Unit of HCC between 2005 and 2012, in 27 patients FDL tunnel was performed in the tarsal navicular and in 49 patients FDL tenodesis was performed to the distal posterior tibial tendon stump; in all patients a bone procedure was performed to correct acquired deformity of the hindfoot. Goniometrical measure was performed for forefoot inversion and plantar flexion at 12 months postop and compared with the healthy foot. Pain or loss of function in the transfer zone was evaluated. Statistical analysis was performed using T-student. Results: 6 patients had bilateral and PTTD and were excluded from this study. Patients with tarsal scaphoid FDL tunnel showed a mean of 62% forefoot inversion and 86% of plantar flexion, patients with FDL tenodesis, showed an average of 86% forefoot inversion and 89% of plantar flexion. One tendon tunnel patient lost tendon function and 2 tenodesis patient lost tendon function. 2 patients with FDL tenodesis had pain in the transfer area. Conclusion: From our study we can conclude that FDL tenodesis to the distal posterior tibial tendon stump produces a better forefoot inversion than the FDL tarsal navicular tunnel(AU)

Genetic variability of the SNPforID 52-plex identification-SNP panel in Central West Colombia.

A set of autosomal single nucleotide polymorphism (SNP) loci was analyzed using the 52-plex assay previously described by Sanchez et al. [J.J. Sanchez, C. Phillips, C. Borsting, K. Balogh, M. Bogus, M. Fondevila, C.D. Harrison, E. Musgrave-Brown, A. Salas, D. Syndercombe-Court, P.M. Schneider, A. Carracedo, N. Morling, A multiplex assay with 52 single nucleotide polymorphisms for human identification, Electrophoresis 27 (2006) 1713-1724] in 140 samples of unrelated individuals born in the Colombian regions of, Risaralda, Caldas, Quindio, Antioquia, Tolima and Valle, and 164 samples of unrelated individuals with declared Native American ancestry from Colombia. Allele frequencies and statistical parameters of forensic interest are presented for the 52 SNPs. All loci were in agreement with Hardy-Weinberg equilibrium while comparisons with population samples of Argentina, Portugal, Spain, Mozambique, and Taiwan revealed significant differences in allele frequency distributions.

D9S1120, a simple STR with a common Native American-specific allele: forensic optimization, locus characterization and allele frequency studies.

The simple tetrameric STR D9S1120 exhibits a common population-specific allele of 9 repeats (9RA) reported to have an average frequency of 0.36 in Native Americans from both North and South of the continent. Apart from the presence of 9RA in two northeast Siberian populations, D9S1120 shows variability exclusive to, and universal in all American populations studied to date. This STR therefore provides an informative forensic marker applicable in countries with significant proportions of Native American populations or ancestry. We have re-designed PCR primers that reduce the amplified product sizes reported in NCBI UniSTS by more than a third and have characterized the repeat structure of D9S1120. The 9RA allele shares the same repeat structure as the majority of other D9S1120 alleles and so originates from a slippage-diminution mutation rather than an independent deletion. We confirm the previously reported allele frequencies from a range of populations indicating a global heterozygosity range for D9S1120 of 66-75% and estimate the proportion of Native American-diagnostic genotypes to average 53%, underlining the potential usefulness of this STR in both forensic identification and in population genetics studies of the Americas.

Cross-sectional serological study of canine Leishmania infection in Fortaleza, Ceará state, Brazil.

Visceral leishmaniasis (VL) is one of the most important reemerging parasitic disease in the world. The domestic dog is the main reservoir in urban environments. The aim of this work was to extend the knowledge on canine Leishmania infection in the city of Fortaleza in northeastern Brazil, identifying the risk factors inherent in dog susceptibility to the infection. Two populations were analyzed, domestic dogs from clinics and the Veterinary Hospital Unit of Ceará State University and stray dogs captured by the Center for Zoonosis Control in Fortaleza. Blood samples were collected and centrifuged and the sera were stored at -20 degrees C. ELISA, with soluble crude Leishmania chagasi antigens (LTCC - WDCM731) was used for diagnosis. A total of 1,381 samples were tested, 750 from domestic and 631 from stray dogs. The seroprevalence of canine VL was 21.4% (135/631) in stray dogs and 26.2% (197/750) in domestic dogs. The seroprevalence of Leishmania infection in the six administrative regions of the city (Secretarias Executivas Regionais, or SER) among stray dogs was highest in SER V, representing 31.4% of the cases, with large dogs more infected (27.7%). Among domestic dogs Leishmania infection was most prevalent in SER V (38.5%) and VI (37.6%). The dogs' age (1-6 years), large size, environment with dense vegetation and presence of clinical signs compatible with Leishmania infection were associated with the illness in domestic dogs. The frequency of the infection varied seasonally. The seroprevalence was greatest in July and December. These results confirm Fortaleza is an endemic area for canine VL and suggest some variables associated with increasing infection risk in dog populations.

Erosive arthropathy: clinical variance in lupus erythematosus and association with anti-CCP case series and review of the literature.

OBJECTIVE: To describe the occurrence of erosive arthropathy in systemic lupus erythematosus (SLE) and its relationship to anti-CCP antibodies. METHODS: Retrospective medical record review of a case series of five female patients with SLE and erosive arthropathies. RESULTS: The initial disease presentation in all patients was a polyarthritis. Anti-CCP antibodies were detected in 4 out of 5 (80%) patients, 2 of whom had a positive rheumatoid factor. CONCLUSION: Erosive arthritis was strongly associated with the presence of anti-CCP antibodies in these patients with SLE, who presented with polyarthritis. Anti-CCP in patients with SLE may be a marker of a more severe joint disease.

The susceptibility of domestic cats (Felis catus) to experimental infection with Leishmania braziliensis.

Over the last few years, several cases of feline leishmaniasis (FL) with cutaneous and visceral forms have been reported around the world. Nonetheless, the real susceptibility of cats to infection with Leishmania spp. and the outcome of leishmaniasis in these animals are poorly understood. Experimental studies on feline models will contribute to the knowledge of natural FL. Thus, in order to determine the susceptibility of domestic cats (Felis catus) to experimental infection with Leishmania braziliensis, 13 stray cats were infected with 10(7) promastigotes by the intradermal route in the ear and nose simultaneously and followed up for 72 weeks. Soon after infection, the earliest indication of a lesion was a papule on the ear at 2 weeks post-infection (w.p.i.). The emergence of satellite papules around the primary lesion was observed about 4 w.p.i. Two weeks later these papules coalesced and formed a huge and irregular nodule. Thereafter, there was lesion dissemination to the external and marginal surface of the ipsilateral ear, and later to the contralateral ear. At 10 w.p.i., some nodules became ulcerated. Nose lesions presented a similar evolution. At both sites, the largest lesion sizes occurred at 10 w.p.i. and started to decrease 15 days later. Ear and nose nodules healed at 32 and 40 w.p.i., respectively. Specific L. braziliensis IgG antibody titers (optical density> or = 0.01 as positive result) were detected as early as 2 w.p.i. (0.09 +/- 0.02) in only three animals (23%), and all cats had positive titers at 20 w.p.i. (0.34 +/- 0.06). Only three animals (38%) continued to show positive serology at 72 w.p.i. (0.08 +/- 0.02). Up to that time, none of the cats had lesion recurrence. In a feline model of cutaneous leishmaniasis, it seems that there is no correlation between active lesions and positive serology. The implications of these data are discussed.

Polyarticular Sporothrix schenckii Infection In an Immunocompetent Host.

Septic arthritis is an unusual complication of Sporothrix schenckii infection. Its diagnosis can be very difficult, mainly because of low clinical suspicion, special media needed for its culture, and low density of the organism in biopsy specimens. We present a case of a woman with disseminated Sporothrix schenckii infection and polyarthritis. Although rare, this wide dissemination of fungus and polyarthritis occurred in an initially immunocompetent patient. Steroid therapy given for suspected vasculitis might have worsened her condition.

Turner's Syndrome and Psoriatic Arthritis.

Gonadal dysgenesis, or Turner's syndrome, is a common X chromosome genetic disorder with characteristic clinical and radiological features. Psoriasis is a common skin disorder that can be associated with arthritis. This report describes a 34-year-old woman with both diseases. Radiological features of Turner's syndrome are described with illustrations of how some changes might be confused with those of rheumatic disease. Although psoriatic arthritis has not been previously reported, other autoimmune diseases have been associated with Turner's syndrome.