Emmonsiellopsis, a new genus related to the thermally dimorphic fungi of the family Ajellomycetaceae.

Two interesting fungi were isolated from fluvial sediments collected in the North of Spain. They were morphologically related to the thermally dimorphic fungi of the family Ajellomycetaceae, but the analysis of the internal transcribed spacer region of the rDNA, and the domains D1 and D2 of the 28S rRNA gene sequences confirmed that they were different from all the species described in that family. They were accommodated in the new genus Emmonsiellopsis as E. coralliformis sp. nov. and E. terrestris sp. nov. The two species are distinguished mainly by the maximum temper-ature of growth (up to 33 °C for E. coralliformis and to 42 °C for E. terrestris), the dendritic mycelium of E. coralliformis and the conidial ornamentation (verrucose in E. coralliformis and spinulose in E. terrestris). In addition, the phylogenetic data demonstrated that Ajellomyces griseus also represents a new genus within the Ajellomycetaceae, namely Helicocarpus. This new genus is easily distinguished by the lack of asexual morph, the production of brownish gymnothecial ascomata and oblate to lenticular, sparingly pitted ascospores. The proposal of both new genera was confirmed by the analysis of actin gene sequences.

Cryotherapy for primary treatment of prostate cancer: intermediate term results of a prospective study from a single institution.

Purpose. Published data about cryotherapy for prostate cancer (PC) treatment are based on case series with a lack of clinical trials and the inexistence of a validated definition of biochemical failure. A prospective study with standardized followup protocol was conducted in our institution. Material and Methods. Prospective study of a series of cases including 108 patients diagnosed with localized PC at clinical stage T1c-T2c treated by primary cryoablation and median followup of 61 months. Criteria of biochemical recurrence were unified according to the American Society for Therapeutic Radiology and Oncology (ASTRO). End points were biochemical progression-free survival (BPFS), cancer-specific survival, and overall survival. Rate of complications was reported. Results. The BPFS for low-, medium-, and high-risk patients was 96.4%, 91.2%, and 62.2%, respectively. Cancer-specific survival was 98.1%. Overall survival reached 94.4%. Complications included incontinence in 5.6%, urinary tract obstruction in 1.9%, urethral sloughing in 5.6%, haematuria in 1.9%, perineal pain in 11.1%, and prostatorectal fistula in 0.9%. Erectile disfunction was found in 98.1%. Conclusions. Cryotherapy is an effective and minimally invasive treatment for primary PC in well-selected cases, with low surgical risk and good results in terms of BPFS, cancer-specific survival, and overall survival.

Nerve compression syndromes of the hand and forearm associated with tumours of non-neural origin and tumour-like lesions.

Nerve compression syndromes caused by non-neural tumours or tumour-like lesions are rare. We retrospectively reviewed 541 consecutive patients operated on by the same surgeon to study nerve compression syndromes in the forearm and hand. There were 414 due to nerve compression and 127 caused by tumours. Twenty-two patients showed compression neuropathy associated with 17 tumours and six tumour-like lesions, with 13 different pathological types. The most common types were fatty and vascular tumours. Twenty-one tumours were extraneural and one was intraneural. The median nerve was affected in nine cases, the ulnar nerve or the dorsal sensory branch of the ulnar nerve in five cases, the posterior interosseous nerve or the superficial radial branch in four cases and the common digital nerves in two cases. There was a concomitant involvement of the median and ulnar nerves in two other patients. Clinically, there were eight different compression neuropathies, of which the most frequent was the carpal tunnel syndrome. The postoperative histology was consistent with preoperative magnetic resonance imaging findings in the vascular and fatty tumours. Pain disappeared completely in 15 out of 16 patients with preoperative pain. All patients had preoperative paraesthesia, which persisted after tumour excision in three patients: attenuated in two patients and unchanged in one. In three patients, we did not observe any change in paresis or amyotrophy. The mean postoperative follow-up was 31 months, without tumour recurrence. The quick Disabilities of the Arm, Shoulder and Hand (DASH) score went from 49.9 points preoperatively to 10.2 points after surgery.

Virulence of Sporothrix luriei in a murine model of disseminated infection.

Sporothrix luriei is a rare fungus causing sporotrichosis in humans. The virulence of this fungus was evaluated in a murine model of disseminated infection. Mice were challenged intravenously with two different inocula (2 × 10(5) and 2 × 10(7) CFU/animals) but only the highest one was able to kill the animals. Infected mice died between days 12 and 16, liver and spleen being the most affected organs. In the infected tissues, a massive infiltration of fungal cells and phagocytes were observed, but not the typical "eyeglass" cells described in infected human tissue.

Duodenal metastasis of alveolar soft part sarcoma.

Aveolar soft part sarcoma is a rare tumor responsible for about 1% of all soft tissue sarcomas, affecting mostly adolescents and young adults. ASPS has curious patterns of metastatic spread, with seldom lymph node involvement. Lung, bone and brain are the most common metastatic places. Small bowel metastasis are infrequent, having found reported only one case of duodenal metastasis with polypous appearance. We describe a case of duodenal metastasis presenting as abdominal mass five years after initial diagnosis of alveolar soft part sarcoma.

Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development.

BACKGROUND: Androgen receptor (AR) gene mutations are the most frequent cause of 46,XY disorders of sex development (DSD) and are associated with a variety of phenotypes, ranging from phenotypic women [complete androgen insensitivity syndrome (CAIS)] to milder degrees of undervirilization (partial form or PAIS) or men with only infertility (mild form or MAIS). OBJECTIVE: The aim of the study was to characterize the contribution of the AR gene to the molecular cause of 46,XY DSD in a series of Spanish patients. SETTING: We studied a series of 133 index patients with 46,XY DSD in whom gonads were differentiated as testes, with phenotypes including varying degrees of undervirilization, and in whom the AR gene was the first candidate for a molecular analysis. METHODS: The AR gene was sequenced (exons 1 to 8 with intronic flanking regions) in all patients and in family members of 61% of AR-mutated gene patients. RESULTS: AR gene mutations were found in 59 individuals (44.4% of index patients), of whom 46 (78%) were CAIS and 13 (22%) PAIS. Fifty-seven different mutations were found: 21.0% located in exon 1, 15.8% in exons 2 and 3, 57.9% in exons 4-8, and 5.3% intronic. Twenty-three mutations (40.4%) had been previously described and 34 (59.6%) were novel. CONCLUSIONS: AR gene mutation is the most frequent cause of 46,XY DSD, with a clearly higher frequency in the complete phenotype. Mutations spread along the whole coding sequence, including exon 1. This series shows that 60% of mutations detected during the period 2002-2009 were novel.

Different virulence levels of the species of Sporothrix in a murine model.

A comparative study on the experimental pathogenicity of five species of Sporothrix of clinical interest, Sporothrix albicans, Sporothrix brasiliensis, Sporothrix globosa, Sporothrix mexicana, and Sporothrix schenckii sensu stricto, was performed using an immunocompetent murine model. Two strains of each species and two levels of inoculum for each strain (2x10(7) and 2x10(4) conidia/animal) were tested by intravenous inoculation of mice (ten per group). Mortality was caused by the low inoculum of one strain of S. brasiliensis only, and the high inocula of S. brasiliensis and S. schenckii strains. Other inocula and other species tested did not kill any of the experimental animals. Tissue burden studies showed fungal spread to kidneys, lungs, spleen, brain, and testicles. S. brasiliensis was recovered extensively from all of the studied organs, and S. schenckii and S. globosa were recovered in lower amounts. Histopathological studies revealed differences in the lesions, which ranged from local inflammation with a low number of fungal cells at the injection site in mice infected with S. globosa, to massive infiltration of fungal cells in organs of those infected with S. brasiliensis. Our findings showed that S. brasiliensis and S. schenckii were the most virulent species, and suggest that lesional mechanisms could be species-specific.

CYP2A6 activity in a healthy Spanish population: effect of age, sex, smoking, and oral contraceptives.

This study was performed to assess the influence of age, sex, smoking, and contraceptive use on CYP2A6 activity. In the metabolism of caffeine, the conversion of 1,7 dimethylxanthine (17X) to 1,7 dimethiylurate (17U) is catalyzed primarily by CYP2A6. CYP2A6 phenotype was determined by the urinary ratio 17U:17X in the interval of 4-5 h after caffeine intake in 179 healthy white Spaniards (102 women and 76 men). There were 99 non-smokers and 80 smokers. Among women, 26 were taking oral contraceptives. The age was the most important predictive factor of CYP2A6 activity (P < 0.001) with older subjects having higher activity. The influence of the gender was more modest (P = 0.07) with women exhibiting borderline increased values of the CYP2A6 marker than men. Tobacco smoking did not affect CYP2A6 activity. However, the CYP2A6 marker resulted to be strongly related to the use of oral contraceptives. The women users of oral contraceptives had higher values of CYP2A6 marker than both women not taking oral contraceptives and men (P < 0.001 in both comparisons). The results indicate that age, oral contraceptive use, and possibly gender should be controlled in epidemiological studies dealing with CYP2A6 activity and its relationship with xenobiotics exposure and genetic or pathological factor.

Inyección directa de líquido de silicona: hallazgos mamográficos y ecográficos / No disponible

La inyección directa de silicona para aumentar el tamañode las mamas se asocia a importantes efectos adversos. Sepresenta un caso de una paciente de 47 años que había recibidomúltiples inyecciones de líquido de silicona 13 años antes yque acudió a la consulta de mamografía para el estudio descreening mamario. Los hallazgos en la mamografía y en laecografía fueron típicos de granulomas de silicona. El diagnósticoprecoz de cáncer de mama en estos pacientes es complicadodebido a que los cambios asociados a la inyección de siliconapueden simular el aspecto de la neoplasia e interfir en lacorrecta interpretación de los estudios radiológicos

Injection of liquid silicone for breast augmentation is associated to development of important adverse effects. We present a case of a 47-year-old woman with a history of liquid silicone injection 13 years before who underwent screening study. Mammographic and sonographic appearances were classic of silicone granulomas. Early detection of breast cancer in these patients is difficult due to architectural distortion associated to silicone injection that mimics neoplasm and interfere in the correct interpretation of radiological studies(AU)

[Prognostic significance of PIN and Atypical Small Acinar Proliferation on transrectal ultrasound-guided prostate biopsy]. / Significación pronóstica del PIN y la atípia glandular focal en la Biopsia Transrectal Ecodirigida de Próstata.

OBJECTIVE: To review the incidence of PIN and Atypical Small Acinar Proliferation (ASAP) on first biopsy, the risk to find cancer on following biopsies and what is the importance given to this findings, analizing how frequently and how long after the initial finding this patients are rebiopsied. METHOD: We selected 6000 patients who underwent TRUS biopsy between 1994 and 2002. Patients with prior cancer diagnosis were not included. 861 of them underwent more than one biopsy, adding up to a total of 7127 biopsies. A descriptive study has been done including percentages and percentiles for qualitative variables, mean and median for continuous variables. RESULTS: Incidence of cancer on the first biopsy was 39,1%. PIN and ASAP are stable or slightly increase from 2 and 2,1% respectively on the first biopsy to more than 6% on the fourth and fifth ones. Mean time between biopsies when ASAP or PIN are the initial findings is 180 +/- 221,6 and 264 +/- 213,8 days respectively. Just 42 and 40% of patients with prior PIN or ASAP diagnose are rebiopsied. On subsequent biopsies 45 and 40% of cancers were respectively found. CONCLUSIONS: Presence of PIN or ASAP implies a higher cancer risk on subsequent biopsies; in spite of that, less than half of them are biopsied again. Performing two more biopsies or an amplified biopsy can find most of the tumors associated.

Significación pronóstica del PIN y la atípia glandular focal en la Biopsia Transrectal Ecodirigida de Próstata / Prognostic significance of pin and atypical small acinar proliferation on transrectal ultrasound guided prostate biopsy

Objetivo: Revisar la incidencia de Neoplasia Intraepitelial Prostática (PIN) y Atípia Glandular Focal (AGF) en primera biopsia, el riesgo de estos pacientes de padecer cáncer en biopsias sucesivas y qué importancia se concede a estos hallazgos analizando con qué frecuencia son rebiopsiados estos pacientes y cuánto tiempo después del hallazgo inicial. Método: Estudio retrospectivo sobre 6.000 pacientes biopsiados entre 1994 y 2002. No se han incluido pacientes con diagnóstico previo de cáncer. De los 6.000 pacientes 861 se han rebiopsiado en alguna ocasión sumando en conjunto 7.127 biopsias. Se ha realizado un estudio descriptivo que incluye los porcentajes y percentiles para variables cualitativas y medidas de tendencia central para las variables cuantitativas continuas. Resultados: La incidencia de cáncer en la primera biopsia fué del 39,1%. Las cifras de PIN o AGF se mantienen estables o aumentan progresivamente desde un 2 y 2,1% respectivamente en la primera biopsia hasta más del 6% en la cuarta y quinta biopsia. La media de tiempo entre biopsias en el caso de encontrar AGF o PIN en el diagnóstico inicial es de180 ± 221,6 y 264 ± 213,8 días respectivamente. Sólo el 42 y el 40% de pacientes con diagnóstico inicial de PIN o AGF se rebiopsian, encontrando finalmente un 45 y un 40% de tumores en las posteriores biopsias respectivamente. Conclusión: La presencia de PIN o AGF implica un mayor riesgo de cáncer en biopsias posteriores; a pesar de ello menos de la mitad vuelven a biopsiarse. La realización de dos biopsias posteriores o una biopsia ampliada localiza la mayoría de los tumores asociados

Objective: To review the incidence of PIN and Atypical Small Acinar Proliferation (ASAP) on first biopsy, the risk tofind cancer on following biopsies and what is the importance given to this findings, analizing how frequently and how long after the initial finding this patients are rebiopsied. Method: We selected 6000 patients who underwent TRUS biopsy between 1994 and 2002. Patients with prior cancer diagnosis were not included. 861 of them underwent more than one biopsy, adding up to a total of 7127 biopsies. A descriptive study h as been done including percentages and percentiles for qualitative variables, mean and median for continuous variables. Results: Incidence of cancer on the first biopsy was 39,1% .PIN and ASAP are stable or slightly increase from 2 and 2,1% respectively on the first biopsy to more than 6% on the fourth and fifth ones. Mean time between biopsies when ASAP or PIN are the initial findings is 180 ± 221,6 and 264 ± 213,8 days respectively. Just 42 and 40% of patients with prior PIN or ASAP diagnose are rebiopsied. On subsequent biopsies 45 and 40% of cancers were respectively found. Conclusions: Presence of PIN or ASAP implies a higher cancer risk on subsequent biopsies; in spite of that, less than half of them are biopsied again. Performing two more biopsies or an amplified biopsy can find most of the tumors associated

Adenocarcinoma gástrico pobremente diferenciado con rasgos rabdoides vimentinanegativo y colonizado por candidas / Poor differentiated gastric adenocarcinoma with rhabdoid features vimentin-negative and colonized by candidas

No disponible

[Renal synchronous tumor: association of renal adenocarcinoma and transitional tumor of renal pelvis, in the same kidney, an exceptional discovery]. / Tumor sincrónico renal: asociación de adenocarcinoma renal y tumor transicional de pelvis renal, en el mismo riñón, un hallazgo excepcional.

The renal cell tumour supposes 1% of the adult's tumors, while the transitional carcinoma has an incidence of 7%. The simultaneous appearance of a carcinoma of renal cells, and a transitional tumour of pelvis in the same kidney, they suppose an exceptional fact not existing but of 30 cases published in the world, presenting an approximate incidence of 0.14% of the pathology renal tumoral. We present a new case of this unusual association that supposes the 4 case indexed in the literature in Spanish.

Tumor sincrónico renal: asociación de adenocarcinoma renal y tumor transicional de pelvis renal, en el mismo riñón, un hallazgo excepcional / Renal synchronous tumor: association of renal adenocarcinoma and transitional tumor of renal pelvis, in the same kidney, an exceptional discovery

El tumor de células renales supone el 1% de los tumores del adulto, mientras que el carcinoma transicional tiene una incidencia del 7%. La aparición simultánea de un carcinoma de células renales, y un tumor transicional de pelvis en el mismo riñón, suponen un hecho excepcional no existiendo más de 30 casos publicados en el mundo, presentando una incidencia aproximada del 0,14% de la patología tumoral renal. Presentamos un nuevo caso de esta inusual asociación que supone el 4caso referenciado en la literatura en español (AU)

The renal cell tumour supposes 1% of the adult’s tumors, while the transitional carcinoma has an incidence of 7%. The simultaneous appearance of a carcinoma of renal cells, and a transitional tumour of pelvis in the same kidney, they suppose an exceptional fact not existing but of 30 cases published in the world, presenting an approximate incidence of 0.14% of the pathology renal tumoral. We present a new case of this unusual association that supposes the 4 case indexed in the literature in Spanish (AU)

[Benign retroperitoneal schwannoma. Incidental diagnostic in patient with hematuria of the percusionist]. / Schwannoma retroperitoneal benigno. Diagnostico incidental en paciente con hematuria del percusionista.

The incidence of retroperitoneal primitive tumour varies from the 0.3 to 3%. The sarcomas suppose the group but it frequents of retroperitoneal tumour, being the Schwannoma an unusual tumour with an incidence from 1% to 50% of the retroperitoneal primary tumours. The schwannoma also denominated neurinoma or neurolenoma, it is a derived tumour of the cells of Schwann of the outlying nerves. It is characterized by their clinical and radiological inespecify, being the diagnose pathological, with intense positive inmunohistoquimics to the protein S-100. The election treatment is the surgical remove, with wide margins; not being described cases of malignización neither of metastasis at distance, but if the recurrence existence at probably secondary local level to incomplete resection.

Radiofrequency-induced carcinogenesis: cellular calcium homeostasis changes as a triggering factor.

The aim was to study the effects of radiofrequency (Rf) in a mice strain characterized by age-determined carcinogenesis of lymphatic tissues. Mice were treated with a 1?h/week Rf exposure for 4 months. A group submitted to sham exposure was used as control animals. The evolution of carcinogenesis was followed up to 18 months. The maximal life span of control mice was about 24 months. All dead animals were clinically and histologically examined to give an age-determined comparative quantification of the evolving carcinogenesis. A radiocalcium tracer method permitted the evaluation of Rf effects on transmembrane transport of extracellular calcium at 1 and 24 h after exposure. The determination of induced lipid peroxidation completed this second study. The findings show that Rf provoked an earlier general lymphocyte cell infiltration, formation of lymphoblastic ascites and extranodal tumours of different histological types, as well as an increased early mortality. The results suggest that in Rf-exposed mice, carcinogenesis may be induced earlier and with different pathological forms than in control animals. The modifications in cellular calcium homeostasis and the age-determined thymus involution appear to be important factors involved in this carcinogenesis process.