[Unexpected diagnosis of nephronopthisis in the genetic study of hypertension due to histological diagnosis of benign nephroangioesclerosis evolved in a young caucasian patient]. / Diagnóstico inesperado de nefronoptisis en estudio genético de hipertensión por diagnóstico histológico de nefroangioesclerosis benigna evolucionada en paciente joven caucásico.

We present the case of a young Caucasian patient with renal disease of unclear cause, with a final diagnosis of advanced benign nephroangiosclerosis established by renal biopsy. Due to the possibility of having hypertension in pediatric age (without study or treatment), with the renal biopsy findings, the genetic study showed polymorphisms risk in the APOL1 and MYH9, and also an unexpected diagnosis of a complete deletion of the NPHP1 gene in homozygosis, associated with the development of nephronophthisis. In conclusion, this case illustrates the importance of carrying out a genetic study in youngs patients with renal disease unclear cause, even having a histological diagnosis of nephroangiosclerosis.

Surgery in a Patient with Haemophilia A and Lymphoma.

An increased incidence of haematologic malignancies and other cancer types among patients with haemophilia compared with matched controls has been reported in several longitudinal studies. Tumours initially misdiagnosed as haematomas and conversely haematomas mistaken for tumours have been reported. Here, we describe the case of a 43-year-old man with severe haemophilia A and a diffuse large B-cell lymphoma, originally diagnosed as a haematoma, who underwent a splenectomy and several associated surgeries as part of his lymphoma treatment. Perioperative treatment with octanate® (human coagulation factor VIII) enabled the successful performance of all surgical interventions required in the context of lymphoma treatment. Nevertheless, differential diagnosis of posttraumatic haematoma in patients with haemophilia should include the consideration of malignancy.

Posterior microphthalmos, retinitis pigmentosa and optic disc drusen with white dots. A case report. / Síndrome del microftalmos posterior-drusas papilares-retinosis pigmentaria asociado a puntos blancos. Caso clínico.

OBJECTIVE: To present the case of a patient with a posterior microphthalmos-optic disc drusen-retinitis pigmentosa syndrome associated, for the first time, with white dots in the posterior pole. METHODOLOGY: The posterior microphthalmos, retinitis pigmentosa and optic disc drusen syndrome was described for the first time in literature in 1991. Later, it was associated with a pattern of foveal thickening and/or foveoschisis. Different forms of mutations on chromosomes 11 and 14 have been identified as being responsible for the appearance of this syndrome, but the inheritance pattern is unknown. DISCUSSION: The case is reported of a 37 year-old man, with no personal or family history of interest, diagnosed with this syndrome in association with white dots in the posterior pole. Such a morphological association has never been published before in literature. CONCLUSION: The posterior microphthalmos, retinitis pigmentosa and optic disc drusen syndrome is a very rare entity, and has never been described associated with white dots in the posterior pole. More case reports are needed to establish clear patterns of both the disease and inheritance.

Experimental murine model of renal cancer. / Modelo murino experimental de cáncer renal.

INTRODUCTION: The objective of this study was to determine the reproducibility in a murine model of renal tumours of various histological strains that could be useful for investigating the response to target drugs. MATERIAL AND METHODS: Development and analysis of the "in vivo" model: tumour xenograft of renal cell carcinomas with Balb/c nude athymic mice. Nontumourous human renal tissue was implanted in the interscapular region of 5 mice, chromophobe renal cell carcinoma was implanted in 5 mice (which, after checking its growth, was prepared for implantation in another 10 mice) and Fuhrman grade 2 clear cell renal cell carcinoma (CCRCC) was implanted in 5 mice (which was also subsequently implanted in 10 mice). We monitored the tumour size, onset of metastases and increase in size and number of tumours. When the size had reached a point greater than or equal to locally advanced or metastatic carcinoma, the animals were euthanised for a pathological and immunohistochemical study and a second phase of implantation. RESULTS: The subcutaneous xenograft of the healthy tissue did not grow. The animals were euthanised at 6 months and no renal tissue was found. The chromophobe renal cell carcinoma cells grew in the initial phase (100%); however, in the second phase, we observed a chronic lymphomonocyte inflammatory reaction and a foreign body reaction. The CCRCC grew at 5-8 months both in the first and second phase (100%), maintaining the tumour type and grade. CONCLUSIONS: The model with athymic Balb/c nude mice is useful for reproducing CCRCC, with the same histological characteristics and aggressiveness as native human tumours, promoting the development of the second experimental phase.

Plurihormonal Cosecretion by a Case of Adrenocortical Oncocytic Neoplasm.

Adrenocortical oncocytic neoplasms (oncocytomas) are extremely rare; only approximately 159 cases have been described so far. The majority are nonfunctional and benign. We describe an unusual case of a functional oncocytoma secreting an excess of glucocorticoids (cortisol) and androgens (androstenedione and DHEAS), a pattern of plurihormonal cosecretion previously not reported in men, presenting with endocrine manifestations of Cushing's syndrome. The neoplasm was considered to be of uncertain malignant potential (borderline) according to the Lin-Weiss-Bisceglia criteria.

Diazepam and Jacobson's progressive relaxation show similar attenuating short-term effects on stress-related brain glucose consumption.

A non-pharmacological method to reduce anxiety is "progressive relaxation" (PR). The aim of the method is to reduce mental stress and associated mental processes by means of progressive suppression of muscle tension. The study was addressed to evaluate changes in brain glucose metabolism induced by PR in patients under a stressing state generated by a diagnostic medical intervention. The effect of PR was compared to a dose of sublingual diazepam, with the prediction that both interventions would be associated with a reduction in brain metabolism. Eighty-four oncological patients were assessed with 18F-fluorodeoxyglucose-positron emission tomography. Maps of brain glucose distribution from 28 patients receiving PR were compared with maps from 28 patients receiving sublingual diazepam and with 28 patients with no treatment intervention. Compared to reference control subjects, the PR and diazepam groups showed a statistically significant, bilateral and generalized cortical hypometabolism. Regions showing the most prominent changes were the prefrontal cortex and anterior cingulate cortex. No significant differences were identified in the direct comparison between relaxation technique and sublingual diazepam. Our findings suggest that relaxation induced by a physical/psychological procedure can be as effective as a reference anxiolytic in reducing brain activity during a stressful state.

Optimization of packaging and storage conditions of a freeze-dried Pantoea agglomerans formulation for controlling postharvest diseases in fruit.

AIMS: This study aimed to evaluate different packaging strategies to extend the shelf life of a freeze-dried formulation of the biocontrol agent Pantoea agglomerans strain CPA-2. METHODS AND RESULTS: Different materials and atmosphere packaging conditions (vacuum and air) were analysed on formulated P. agglomerans cells stored at 25, 5 and -20°C. Results showed the viability of CPA-2 cells stored at 5 or -20°C was significantly higher than when stored at 25°C. The highest viabilities were observed with the plastic material designated as Bottle 1, in nonvacuum packaging in all storage temperatures: 50% after 3 months at 25°C, 100% after 8 months at 5°C and 100 and 74% after 12 and 18 months, respectively, at -20°C; the final concentration was 10(12) CFU g(-1), a good concentration for a commercial product. The efficacy to control blue and green mould on apples and oranges, respectively, of these packed and stored cells was similar to fresh CPA-2 cells. CONCLUSIONS: This work showed a suitable packaging strategy for a freeze-dried formulation of the CPA-2, providing a good shelf life and efficacy against the major postharvest diseases of apples and citrus based on a plastic bottle stored at cold or frozen storage conditions. SIGNIFICANCE AND IMPACT OF THE STUDY: The last phase of the commercial development process for biocontrol agents is presented in this work. A bacterium-based product that ensures the efficacy, stability and easy application of the antagonist to control postharvest fungal diseases on fruit was successfully obtained.

[Post-dural (post-lumbar) puncture syndrome. Review and retrospective study at an emergency headache centre]. / Le syndrome post-ponction lombaire. Revue de la littérature et expérience des urgences céphalées.

Post-lumbar puncture headache (PLPH) is a well-known syndrome resulting from spinal fluid leakage and delayed closure of a dural defect. The main symptom of PLPH is headache in upright posture relieved by lying down. Outcome is usually benign and complications are uncommon. The functional impact can however be important, leading to delayed discharge, sick leave and, if information delivery is ineffective, iterative consultations. Preventive measures have been published, but the prevalence of PLPH remains high (15 to 40% after diagnostic lumbar puncture). Needle size and type are probably the most important factors for reducing the risk of PLPH. Recovery can be rapid, within a few days. If PLPH persists after four days, an epidural blood patch should be discussed. The objective of this review is to summarize the literature on PLPH, and share the experience of our emergency headache center with an atraumatic 25-gauge needle (pencan, 0.5×90mm or 0.5×103mm, Braun, Germany).

Clinical profile and epidemiological changes of clear cell renal carcinoma during 12 years in our health area.

OBJECTIVES: To investigate changes in the epidemiology and clinical profile of patients diagnosed with renal clear cell carcinoma in a community health area over 12 years. METHODS: Retrospective analysis of epidemiological characteristics and clinical profile of patients diagnosed with renal clear cell carcinoma in a health area composed of a population of 353.619 inhabitants from January 1999 to December 2010. Descriptive statistical and multivariate analysis, Fisher exact test and Chi-Square were utilized. p<0.05 was accepted as significant. RESULTS: 349 diagnoses of renal mass were reported; 165 of them were clear renal cell carcinoma. Median age was 70.41 years, and the Female/Male rate was 28% and 72%, respectively. 4% women and 30% men smoked ≥20 cigarettes/day, more frequently during the period 1999-2001. 52% women and 30% men had hypertension. Hematuria was the most frequent symptom (23%), more frequent in the period 2007-2010, followed by abdominal pain (16%) and renal colic(13%). Weight loss (12%) was more frequent between 1999-2000. Asthenia appeared as the first symptom in 8% of cases. The tumor was incidentally diagnosed in 20% of cases, more frequently in the period between 2007-2010. Diagnosis was established in the Urology Department in 36% of the cases. Stages T1-2 N0 were more frequent between 2007-2010, and M1 between 1999-2000. G3 was more frequent in the entire series. The relative cancer specific mortality of patients who were surgically treated was less in the last 2 years of the period. CONCLUSIONS: Clear renal cell carcinoma is the most frequent renal cancer and its incidence is increasing in our environment. It affects more frequently males than females, and at an earlier age. The last few years are showing a decrease in the habitual smoker males and an increase in HTN in females. A tendency has been detected to the early stage clinical diagnosis but with a higher histopathological grade. It is most frequent diagnosed by a non-Urology speciality.

Paraganglioma of prostatic origin.

INTRODUCTION: Paragangliomas are usually benign tumors arising from chromaffin cells located outside the adrenal gland. Prostatic paraganglioma is an unusual entity in adult patients, with only 10 cases reported in the medical literature. CASE REPORT: A 34-year-old male with a history of chronic prostatitis consulted for perineal pain. On digital rectal examination the prostate was enlarged and firm, without nodules. The PSA level was 0.8 ng/mL and the catecholamines in the urine were elevated. On ultrasound a retrovesical 9 cm mass of undetermined origin measuring was present. A PET-CT scan showed a pelvic lesion measuring 9 cm with moderate increase in glucidic metabolism localized in the area of the prostate. A biopsy of the prostate revealed a neuroendocrine tumor, possibly a prostatic paraganglioma. A body scintigraphy with MIBG I-123 ruled out the presence of metastases or multifocal tumor. A radical prostatectomy with excision of the pelvic mass was performed under adrenergic blockade. One year after surgery the patient is asymptomatic and disease free. DISCUSSION/CONCLUSIONS: Prostatic paraganglioma is a rare, usually benign tumor, which should be considered in the differential diagnosis of prostate tumors in young males. Its diagnosis is based on the determination of catecholamine in blood and 24-hour urine and in imaging studies principally scintigraphy with MIBG I-123. Diagnostic confirmation is by histopathological study. The treatment consists of radical resection under adrenergic blockade and volume expansion. Given the limited number of cases reported, it is difficult to establish prognostic factors. Malignancy is defined by clinical criteria, and requires life long follow-up.

[Diagnostic imaging studies: do they create anxiety?]. / Pruebas de diagnóstico por la imagen: ¿generan ansiedad?

UNLABELLED: Cancer is one of the main health problems in western countries. In 2008, it represented the first cause of death in men and the second one in women. When there is a diagnosis or suspicion of cancer, performing diagnostic imaging studies has an important role in the clinical activity and may have an elevated psychological impact. OBJECTIVE: The purpose of this study was to evaluate the level of anxiety in oncology patients during the performance of a nuclear medicine study (PET-CT) in a Nuclear Medicine Service, by means of the State Trait Anxiety Inventory (STAI). MATERIAL AND METHODS: A total of 200 cancer patients who underwent a PET-CT study in a Nuclear Medicine Service were administered the STAI to evaluate the level of anxiety generated during this test. The STAI is a validated questionnaire developed as a research tool on anxiety in healthy adults. RESULTS: Of the 200 patients, two thirds (n=135) (67%) of the patients evaluated had anxiety. Of the 133, 93 (70%) of the patients who underwent PET-CT study for the first time were anxious whereas 42 (62.7%) of the patients who had undergone the study on previous occasions were anxious. Those patients with the greatest anxiety were those in whom the study was performed to initially stage the disease. CONCLUSION: Performing the PET-CT study as an initial staging method and/or to evaluate tumor recurrence is an important and statistically significant generator of anxiety. There is a high emotional and cognitive impact associated to the participation of the diagnostic tests.

Chemosensory event-related potentials in early blind humans.

While the effects of early visual deprivation on auditory and tactile functions have been widely studied, little is known about olfactory function in early blind subjects. The present study investigated the potential effect of early blindness on the electrophysiological correlates of passive odour perception. Event-related potentials (ERPs) were recorded in eight early blind humans and eight sighted controls matched for age, sex and handedness during olfactory stimulation with 2-phenyl ethyl alcohol and trigeminal stimulation with CO2 Latencies, amplitudes and topographical distributions were analysed. As expected, the olfactory and trigeminal ERP components showed normal latencies, amplitudes and topography in both groups. Olfactory stimuli generated responses of smaller amplitude than those observed in response to trigeminal stimulation. In addition, ERP analyses did not reveal any major difference in electrocortical responses in occipital areas in early blind and sighted subjects. These results suggest that passive olfactory and trigeminal stimulation elicit the same electrophysiological responses in both groups, confirming that the neurophysiological correlates of the cross-modal compensatory mechanisms in early blind subjects do not appear during passive olfactory and trigeminal perception.

Steady-state and femtosecond photoinduced processes of blepharismins bound to alpha-crystallin.

The interaction of blepharismin (BP) and oxyblepharismin (OxyBP) with bovine alpha-crystallin (BAC) has been studied both by steady-state and femtosecond spectroscopy, with the aim of assessing the possible phototoxicity of these compounds toward the eye tissues. We showed that these pigments form with BAC potentially harmful ground-state complexes, the dissociation constants of which have been estimated to be 6 +/- 2 micromol L(-1) for OxyBP and 9 +/- 4 micromol L(-1) for BP. Irradiation with steady-state visible light of solutions of blepharismins in the presence of BAC proved to induce a quenching of both the pigment and the intrinsic protein fluorescences. These effects were tentatively rationalized in terms of structural changes of alpha-crystallin. On the other hand, femtosecond transient absorption spectroscopy was used to check the occurrence of any type I photoactivity of oxyblepharismin bound to alpha-crystallin. The existence of a particular type of fast photoinduced reaction, not observed in former studies with human serum albumin but present in the natural oxyblepharismin-binding protein, could here be evidenced but no specific reaction was observed during the first few nanoseconds after excitation. Partial denaturation of alpha-crystallin was however found to alter the excited-state behaviour of its complex with oxyblepharismin, making it partly resemble that of free oxyblepharismin in solution.

[Assessment of a neuroendocrine tumour by 111In-pentetreotid scintigraphy and PET with 18FFDOPA and 18F-FDG]. / Valoración de un tumor neuroendocrino mediante gammagrafía con 111In-pentetreótido y PET con 18F-FDOPA y 18F-FDG.

We present the case of a 67 year old patient diagnosed of a neuroendocrine carcinoid tumour of the small intestine. The tumour and subsequent metastases were resected previously by surgery, but a new recurrence was suspected. CT showed left adrenal enlargement. 18F-FDG PET was normal and 111In pentetreotide scintigraphy showed liver and left diaphragmatic uptake. 18F-FDOPA PET showed uptake foci in liver and left diaphragm and also in left adrenal gland, retro urinary bladder area and multiple foci in abdominopelvic region, suggesting a peritoneal carcinomatosis. 18F-FDOPA PET was the first imaging modality to assess the extensiveness of the disease that was confirmed six month later by CT. Neuroendocrine tumors are a heterogeneous group of neoplasia. They are studied by conventional radiologic and functional techniques of nuclear medicine. This case illustrates the need to use the different techniques and tracers according to the characteristics of the tumor to be studied to thus improve the diagnostic and prognostic performance.

[Extramedullary plasmacytoma of the head and neck. Report of 3 clinical cases]. / Plasmocitoma extramedular de cabeza y cuello. Presentación de 3 casos clínicos.

Plasmocytomas are neoplasic disorders arising from plasma cells that include Multiple Myeloma (MM) Solitary Plasmocytoma of the bone and Extramedullary Plasmacytoma (EMP). EMP are solitary tumours consisting of plasma cell proliferation that occurs in locations other than bone. A variable percentage may be associated at a later date with the development of MM. EMP represent up to 4% of nonepithelial tumours of the upper respiratory tract. They generally occur in the submucosal tissue of the upper airways (80% of cases), with a predilection for nasopharynx, nasal cavity, paranasal sinuses and tonsils. We report 3 cases of Extramedullary Plasmocytoma located one in the upper respiratory tract. All the patients underwent surgical resection or biopsy of the lesion that allowed the histological study, which showed a plasma cell proliferation. Serum and bone marrow studies conclude the diagnosis of Extramedullary Plasmocytoma. The treatment was radiotherapy, with or without previously surgery. Three patients are currently under close follow-up and no evidence of recurrence has been found. We review the clinic, diagnostic, therapeutic and prognostic aspects of this kind of tumours.

Effect of water activity and temperature on germination and growth of Penicillium digitatum, P. italicum and Geotrichum candidum.

AIMS: This study compares the effect of temperature (4-37 degrees C) and water activity (aw: 0.99-0.87) and their interactions on the germination rates, lag times prior to germination and mycelial growth 'in vitro' of Penicillium digitatum, P. italicum and Geotrichum candidum, the main postharvest pathogens affecting citrus fruits. METHODS AND RESULTS: Germination and growth were markedly influenced by temperature and aw. Generally, lag times were longer and germination and growth rates were slower when conditions of temperature and aw were far from optimum. All the studied species were able to germinate over a range of 4-30 degrees C at 0.995 aw, although in non-optimal conditions P. digitatum only reached 40-60% of germinated conidia. At low temperatures, P. italicum germinated and grew faster than P. digitatum and G. candidum, particularly at 0.95 aw. Penicillium italicum was also able to germinate and grow in the driest studied conditions (0.87 aw), while G. candidum did not germinate under 0.95 aw. CONCLUSIONS: Knowledge of the ecological requirements of these fungi is important in order to understand their behaviour in natural situations and to predict fungal spoilage on citrus fruits.

Assessment of inflammatory bowel disease by using two different (99m)Tc leucocyte labelling methods.

The aim of this study was to retrospectively compare the diagnostic accuracy of (99m)Tc hexamethylpropyleneamine oxime (HMPAO) white blood cell scintigraphy in patients with a suspicion of active inflammatory bowel disease by using two different cell suspension media: leukocyte poor plasma (LPP) and Hanks' balanced salt solution (HBSS). Leukocytes from 30 patients were labelled using LPP and in 28 cases using HBSS. In the LPP method the leukocytes were resuspended in 0.5 ml cell-free plasma while in the HBSS method the cells were resuspended in 0.5 ml HBSS. Scintigraphic images were obtained at 30 min and 2 h after injection of 185-200 MBq (99m)Tc-HMPAO leukocytes. The leukocyte labelling efficiency was 65.5% and 89.0%, respectively, for the LPP and HBSS methods. There were 22 true positive, seven true negative and one false negative result in the LPP group, while in the HBSS group results were 18, nine and one, respectively. Diagnostic accuracy was similar with both methods although sensitivity was slightly higher in the HBSS group. In summary, these date indicate that leukocyte scintigraphy labelling using HBSS as the resuspension medium should be used as a first option for white blood cell labelling and diagnosis of inflammatory bowel disease.

Diagnosis of pulmonary sequestration by spiral CT angiography.

The diagnosis of pulmonary sequestration traditionally requires arteriography to identify abnormal systemic vessels feeding the abnormal portion of the lung. Non-invasive imaging techniques have recently been used to replace arteriography. Conventional computed tomographic (CT) scanning is, however, at a disadvantage because of its inability to obtain multiplanar images. The combination of slip ring CT scanning and computerised three-dimensional reconstruction (spiral CT angiography) can be used to visualise the anatomical detail of a wide range of vessels within the lung. Four cases of pulmonary sequestration are reported which were successfully diagnosed using spiral CT angiography. Spiral CT scanning allows simultaneous imaging of anomalous vessels and lung parenchyma in a single examination and is particularly useful in the diagnosis and assessment of pulmonary sequestration.