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Biomedical subjects

S Puig

Publications and source records attributed to S Puig.

At least 19 recordsLinked to original sources

[Evidence-based radiology: a new approach to evaluate the clinical practice of radiology].

Over the last several years, the concept and methodology of Evidence-Based Medicine (EBM) have received significant attention in the scientific community. However, compared to therapeutic medical disciplines, EBM-based radiological publications are still underrepresented. This article summarizes the principles of EBM and discusses the possibilities of their application in radiology. The presented topics include the critical appraisal of studies on the basis on EBM principles, the explanation of EBM-relevant statistical outcome parameters (e. g., "likelihood ratio" for diagnostic and "number needed to treat" for interventional procedures), as well as the problems facing evidence-based radiology. Evidence-based evaluation of radiological procedures does not only address aspects of cost-effectiveness, but is also particularly helpful in identifying patient-specific usefulness. Therefore it should become an integral part of radiologist training.

Clinical Trials as Topic↗

Dermoscopic findings of haemosiderotic and aneurysmal dermatofibroma: report of six patients.

BACKGROUND: The clinical diagnosis of dermatofibroma is commonly easy. However, the differentiation of dermatofibroma from other cutaneous tumours is difficult in some instances, primarily in atypical cases and rare variants. Haemosiderotic dermatofibroma is a variant composed of numerous small vessels, extravasated erythrocytes and intra- and extracellular haemosiderin deposits. Aneurysmal dermatofibroma is a variant composed of large, blood-filled spaces without endothelial lining. Some authors consider that haemosiderotic dermatofibroma is an early stage in the development of aneurysmal dermatofibroma. The clinical differential diagnosis of haemosiderotic or aneurysmal dermatofibroma must include melanoma and other melanocytic tumours, vascular neoplasms, adnexal tumours and nonspecific cysts. Dermoscopy improves the diagnostic accuracy in pigmented and nonpigmented skin lesions. OBJECTIVES: To evaluate specific dermoscopic criteria. METHODS: Dermoscopic examination (using the DermLite Foto; 3Gen, LLC, Dana Point, CA, U.S.A.) of six patients with haemosiderotic or aneurysmal dermatofibromas was performed to evaluate specific dermoscopic criteria. RESULTS: A multicomponent pattern with a central bluish or reddish homogeneous area in combination with white structures and a peripheral delicate pigment network along with vascular structures was noted in five of six lesions. CONCLUSIONS: This dermoscopic pattern yielded the diagnosis of haemosiderotic or aneurysmal dermatofibroma in most cases. However, this multicomponent pattern may present in some melanomas and although it is useful in determining a clinical diagnosis of aneurysmal dermatofibroma, it may not be specific to this entity.

Adult↗

Dermoscopic findings in pyogenic granuloma.

BACKGROUND: To the best of our knowledge, no specific dermoscopic criteria have been described in the medical literature for the diagnosis of pyogenic granuloma. OBJECTIVES: To evaluate the morphological findings of pyogenic granuloma under dermoscopic observation. METHODS: Dermoscopic examination (using the DermLite Foto; 3Gen, LLC, Dana Point, CA, U.S.A.) of 13 patients with pyogenic granulomas was performed to evaluate specific dermoscopic criteria. RESULTS: The most frequently occurring dermoscopic features were found to be: reddish homogeneous area (92%), white collarette (85%), "white rail" lines that intersect the lesion (31%) and ulceration (46%). The results of our study reveal that the absence of specific dermoscopic criteria for other skin tumours and a reddish homogeneous area surrounded by a white collarette are the most frequent dermoscopic pattern in pyogenic granulomas (85%). CONCLUSIONS: Dermoscopy is a useful tool for improving the recognition of pyogenic granuloma.

Adolescent↗

Mutation of the tumour suppressor p33ING1b is rare in melanoma.

BACKGROUND: The p33ING1b gene is involved in the p53-dependent response to DNA damage following exposure to ultraviolet radiation, and has recently been reported to be mutated in 20% of melanoma tumours. OBJECTIVES: We sought to assess the p33ING1b mutation rate in our large panels of fresh melanomas and melanoma cell lines. METHODS: We screened 83 primary melanomas and 55 melanoma cell lines for mutations in p33ING1b by single-strand conformational polymorphism analysis and by direct sequencing. RESULTS: In contrast to previous reports, we found no somatic p33ING1b mutations in our panel of melanomas. We found that some of the discrepancy between our results and previously published studies may be due to inadvertent amplification of the ING1 pseudogene (INGX), and/or contamination of some samples with murine Ing1. CONCLUSIONS: p33ING1b mutations in melanoma are rare. We have highlighted the importance of allele-specific primer design to avoid pseudogene amplification, and also the necessity to confirm the genetic identity and species of origin of individual cell lines. Further studies are needed to clarify the possible role of p33ING1b in melanoma tumorigenesis.

Animals↗

Genetic studies in variegate porphyria in Spain. Identification of gene mutations and family study for carrier detection.

BACKGROUND: First, to establish the mutations of the protoporphyrinogen-oxidase (PPOX) gene in four Spanish patients with variegate porphyria (VP). Second, study of carrier status detection in the families, including a four-generation Balearic family. Third, evaluation of the results of carrier detection screening methods. DESIGN: Blood samples of four patients and of 139 members belonging to four families, including four generations of a Balearic family were processed for mutation analysis of the 13 exons of PPOX gene. Biochemical studies were performed together (blood and faecal porphyrin analysis) and plasma fluorescence scanning for 626 nm peak emission detection. A questionnaire regarding clinical manifestations was submitted to all family members studied. RESULTS: Single strand conformational analysis (SSCP) of DNA allowed the detection of the following mutations: W224R, 746delT: exon 7, 1077-1082insC: exon 10, and IVS6+2T-->A. Mutation was present in 19 of the 139 members of the families studied. Clinical manifestations or biochemical alterations were checked in the carriers detected and found as not relevant or not present. Only 11 members of the 19 mutation-bearing individuals showed plasma fluorescence PV peak positivity. CONCLUSION: Demonstration of gene mutation is the most reliable means of detecting carriers in studies of variegate porphyria families. DNA analysis is the most sensitive carrier detection method and also allows transmission behaviour of the genetic defect to be established in successive generations of the affected families.

Adult↗

Dermoscopy in Gorlin-Goltz syndrome.

BACKGROUND: Gorlin-Goltz syndrome (GGS) is an autosomal dominant disorder mainly characterized by the presence of multiple basal cell carcinomas (BCC), odontogenic keratocysts of the jaw, and volar pits. This syndrome is associated with a wide spectrum of developmental anomalies and neoplasms. OBJECTIVE: To describe dermoscopic characteristics of cutaneous GGS lesions performing histopathologic correlation. MATERIALS AND METHODS: Cutaneous lesions and tumors from five patients affected by GGS were included. Clinical and dermoscopy images were obtained and excision with ulterior histopathology performed in suspicious tumors. RESULTS: With dermoscopy, BCCs can be detected in early stages by the presence of blue-gray globules in lesions less than 3 mm in diameter. In larger lesions, arborizing telangiectasia may also be present. Acral pits that are often overlooked during physical examination have a characteristic dermoscopy with red globules that are mainly distributed in parallel lines inside flesh-colored, irregular-shaped, and slightly depressed lesions. Dermoscopy improves the visualization of these pits. CONCLUSION: Dermoscopy can help in the diagnosis of the GGS as well as in the management of affected patients.

Adult↗

Tumour lymphangiogenesis is a possible predictor of sentinel lymph node status in cutaneous melanoma: a case-control study.

BACKGROUND: Cutaneous melanoma spreads preferentially through the lymphatic route and sentinel lymph node (SLN) status is regarded as the most important predictor of survival. AIMS: To evaluate whether tumour lymphangiogenesis and the expression of vascular endothelial growth factor C (VEGF-C) is related to the risk of SLN metastasis and to clinical outcome in a case-control series of patients with melanoma. METHODS: Forty five invasive melanoma specimens (15 cases and 30 matched controls) were investigated by immunostaining for the lymphatic endothelial marker D2-40 and for VEGF-C. Lymphangiogenesis was measured using computer assisted morphometric analysis. RESULTS: Peritumorous lymphatic vessels were more numerous, had larger average size, and greater relative area than intratumorous lymphatics. The number and area of peritumorous and intratumorous lymphatics was significantly higher in melanomas associated with SLN metastasis than in non-metastatic melanomas. No significant difference in VEGF-C expression by neoplastic cells was shown between metastatic and non-metastatic melanomas. Using logistic regression analysis, intratumorous lymphatic vessel (LV) area was the most significant predictor of SLN metastasis (p = 0.04). Using multivariate analysis, peritumorous LV density was an independent variable affecting overall survival, whereas the intratumorous LV area approached significance (p = 0.07). CONCLUSIONS: This study provides evidence that the presence of high peritumorous and intratumorous lymphatic microvessel density is associated with SLN metastasis and shorter survival. The intratumorous lymphatic vessel area is the most significant factor predicting SLN metastasis. The tumour associated lymphatic network constitutes a potential criterion in the selection of high risk patients for complementary treatment and a new target for antimelanoma therapeutic strategies.

Adult↗

Model-based evaluation of an on-line control strategy for SBRs based on OUR and ORP measurements.

Application of control strategies for existing wastewater treatment technologies becomes necessary to meet ever-stricter effluent legislations and reduce the associated treatment costs. In the case of SBR technology, controlling the phase scheduling is one of the key aspects of SBR operation. In this study a calibrated mechanistic model based on the ASM1 was used to evaluate an on-line control strategy for the SBR phase-scheduling and compare it with the SBR's performance using no control strategy. To evaluate the performance, reference indices relating to the effluent quality, the required energy for aeration and the treated wastewater volume were used. The results showed that it is possible to maintain optimal SBR performance in the studied system at minimal costs by on-line control of the length of the aerobic and anoxic phases.

Bioreactors↗

An on-line optimisation of a SBR cycle for carbon and nitrogen removal based on on-line pH and Our: the role of dissolved oxygen control.

A pilot plant sequencing batch reactor (SBR) was applied in a wastewater treatment plant treating urban wastewater focused on carbon and nitrogen removal. From an initial predefined step-feed cycle definition, the evolution of the on-line monitored pH and calculated oxygen uptake rate (OUR) were analysed in terms of knowledge extraction. First, the aerobic phases of the SBR cycle were operated using an On/Off dissolved oxygen (DO) control strategy that concluded with a sinusoidal pH profile that made detecting the "ammonia valley" difficult. After changing to fuzzy logic control of the dissolved oxygen and by adding an air flow meter to the pilot plant, the pH evolution and on-line calculated OUR showed a clearer trend during the aerobic phases. Finally, a proposed algorithm for adjusting the aerobic phases of the SBR for carbon and ammonia removal is presented and discussed.

Aerobiosis↗

Serum protein s-100 predicts clinical outcome in patients with melanoma treated with adjuvant interferon--comparison with tyrosinase rt-PCR.

OBJECTIVE: To study the clinical value of the determination of serum S-100 protein as a single tumor marker or in combination with tyrosinase RT-PCR in patients with melanoma receiving adjuvant interferon. PATIENTS AND METHODS: Patients were tested for serum S-100 protein luminoimmunometric assay and for blood tyrosinase mRNA (RT-PCR), before starting interferon and every 2-3 months thereafter. RESULTS: One hundred and six patients (stage IIA, 27; IIB, 19; III, 49; and IV, 11) were included in the study. Median follow-up was 51 months (range 2-76). In the univariate analysis, under treatment S-100 > or =0.15 microg/l and a positive RT-PCR correlated with a lower disease-free survival and overall survival (OS). In the multivariate analysis, clinical stage, under therapy positive RT-PCR and S-100 levels > or =0.15 mug/ml, were independent prognostic factors for OS. The hazard ratio for OS was 3.9 (95% CI, 1.67-9.15; p = 0.004) and 2.2 (95% CI, 1.05-4.6; p = 0.016) for S-100 > or =0.15 microg/l and positive RT-PCR, respectively. When both techniques where combined, a positive RT-PCR indicated a poorer clinical outcome only in patients with S-100 <0.15 microg/l. CONCLUSIONS: S-100 > or =0.15 microg/l and a positive RT-PCR during adjuvant interferon therapy indicate a high risk of death in resected melanoma patients. S-100 determination has a higher positive predictive value than RT-PCR, while tyrosinase RT-PCR adds prognostic information in patients with S-100 <0.15 microg/l.

Adolescent↗

Dermoscopy of skin lesions in two patients with xeroderma pigmentosum.

BACKGROUND: Xeroderma pigmentosum (XP) is a rare disorder produced by a genetic defect in the repair of DNA damage caused by ultraviolet radiation. The early diagnosis of malignant skin tumours is crucial in the survival of patients with XP, but this is not easy even for experienced dermatologists due to the presence of a high number of actinic lesions. Dermoscopy is a new diagnostic method that increases the diagnostic accuracy for skin tumours. OBJECTIVES: To describe the clinical and dermoscopic features of different benign and malignant lesions [focusing on malignant melanoma, basal cell carcinoma (BCC) and benign melanocytic naevi] in two patients with XP. METHODS: Three dermatologists with experience in pigmented skin lesions and dermoscopy examined two siblings with XP over a period of 54 months. Diagnosis of skin tumours was obtained using clinical examination and dermoscopy with 10-fold magnification and digital images. All the tumours with criteria of malignancy were excised for further histopathological analyses. RESULTS: Multiple skin tumours showing some degree of pigmentation were detected in the patients. Clinical and dermoscopic examination allowed the discrimination of four melanomas (three of them in situ), 26 BCCs and five dysplastic naevi from other pigmented skin lesions. The features and parameters previously described for dermoscopy were shown to be appropriate for the recognition of tumours in our patients with XP. Generalized actinic lentigos were distinguished from BCCs by the presence of a delicate brown pigmented network. Fine vessels from poikiloderma were differentiated from the arborizing telangiectasia of BCC. CONCLUSIONS: The dermoscopic findings in the tumours were similar to those previously described in patients not affected by XP. Diagnosis by dermoscopic pattern analyses allowed a correct classification of malignant tumours in these cases.

Adolescent↗

Dermoscopy is useful for the recognition of benign-malignant compound tumours.

The association of two different neoplasms in the same lesion is uncommon and has been reported as collision or compound tumours in the medical literature. In cases where a malignant neoplasm exists in association with a benign lesion it is important to make an accurate diagnosis in order to treat the lesions correctly. Dermoscopy is an in vivo, noninvasive technique that improves the clinical accuracy in diagnosing melanoma and other pigmented skin lesions. We describe the dermoscopic characteristics of various collision or compound tumours that were composed of benign and malignant neoplasms: two cases of seborrhoeic keratosis associated with basal cell carcinoma, two cases of melanocytic naevus and basal cell carcinoma and one case of dermatofibroma associated with basal cell carcinoma. We conclude that dermoscopy is a useful tool for improving the recognition of these kinds of tumours.

Adult↗

Pilot study of treatment of biochemotherapy-refractory stage IV melanoma patients with autologous dendritic cells pulsed with a heterologous melanoma cell line lysate.

Eleven AJCC stage IV melanoma patients with progressive disease after treatment with biochemotherapy were treated with autologous dendritic cells pulsed with heterologous tumor cell lysates. The vaccine used mature DCs (CD1a+++, CD40++, CD80++, CD83+, and CD86+++) generated from peripheral blood monocytes in the presence of GM-CSF and IL-4. After 7 days, DCs were matured with a defined cocktail of cytokines (IL-1+IL-6+TNF-alpha+PGE2) and simultaneously pulsed with lysates of heterologous melanoma cell lines, for 2 days. A total of 4 x 10(6) DCs was injected monthly under ultrasound control in an inguinal lymph node of normal appearance. The study was closed when all patients died as a consequence of tumor progression. No sign of toxicity was observed during the study. One patient experienced a partial response lasting 5 months, and two patients showed a mixed response which lasted 3 months. The median survival of the whole group was 7.3 months (range 3-14 months). This vaccination program had specific antitumoral activity in highly pretreated and large tumor burden stage IV melanoma patients and was well tolerated. The clinical responses and the median survival of the group of patients, together with the low toxicity of our DC vaccine, suggest that this approach could be applied to earlier AJCC stage IV melanoma patients.

Adult↗

[Me-too pharmaceuticals -- marketing-strategies of drug producers and drug purchasers. Example: non-ionic contrast media].

UNLABELLED: In the context of increasing economic pressure upon on hospital budgets, it is inevitable that central and standardized purchasing of pharmaceuticals must be considered. It was the aim of this assessment to analyse the many different non-ionic contrast media/CM products on the actual "clinical relevance of the differences" in order to give advice for a more concerted purchasing of CM. The assessment was commissioned by a large scale Austrian hospital cooperation; it can be regarded as the beginning of a broad strategy against the many new, only rarely innovative, but nevertheless patent-protected pharmaceuticals. Eight different non-ionic contrast media - used in routine care - were compared for their physico-chemical characteristics: osmolality, nephrotoxicity, viscosity, hydrophilicity and electric charge. In a systematic review 193 publications were analysed. RESULT: The examined CM show similar pharmacokinetic and -dynamic attributes, and no differences of clinical relevance. An optimisation of purchasing pharmaceuticals by standardisation of the range of products takes place in the context of common strategies of producers and buying agents in marketing-economies. The strategies of the pharmaceutical industry (patent protection of me-too drugs, high-price-policy, extensive marketing of up to 40 % of revenue) and the counter-strategies of the central hospital purchasers (market concentration, drug commissions, institutional measures to disentangle interests) are presented - exemplified by contrast media - in this article.

Austria↗

A novel technique to measure position-dependent resistance changes in the vertebral arteries postmortem: new insights into the aetiology of SIDS?

AIM: A central respiratory regulation disturbance--triggered by impaired oxygen supply to the brainstem--is being discussed as an aetiological factor in sudden infant death syndrome. In this experimental study, further insight was sought into how far cervical spine movements may induce critical narrowing of the vertebral arteries. METHODS: In 10 infant bodies, the vertebral arteries were cannulated close to their origin and perfused with a fluid bolus of 5 ml in 2 s. The intravascular peak pressure created was memorized. Individual resistance indices were computed for every vertebral artery by relating the average pressure maximum from 10 measurements each with maximal rotation of the neck to either side alone and then with additional hyperextension of the cervical spine to the average peak pressure in neutral head position. RESULTS: Alterations of position-induced pressure changes occurred in the vertebral arteries of all children. Considering exclusively the combined movements of rotation plus extension, resistance increased ipsi- and contralaterally--no matter which side the head was turned--in three infants. A further three reacted with resistance surges only contralateral to the direction of rotation, and one only ipsilateral. Double contralateral associated with only one-directional ipsilateral rise was observed twice, and vice versa once. CONCLUSION: The presented method enables crude quantification of postmortem dynamic resistance alterations in the vertebral arteries. How far such measurements reflect authentic circulatory conditions during life remains to be assessed.

Autopsy↗

Clinically equivocal melanocytic skin lesions with features of regression: a dermoscopic-pathological study.

BACKGROUND: Benign melanocytic skin lesions may be difficult to differentiate from melanoma both clinically and dermoscopically. One of the most confounding dermoscopic features, commonly seen in melanoma but in our experience also in melanocytic naevi, is represented by the so-called blue-white structures (BWS). OBJECTIVES: To evaluate diagnostic significance and histopathological correlates of BWS seen by dermoscopy in a series of clinically equivocal melanocytic skin lesions that were excised. METHODS: Patients were recruited from six specialized pigmented lesion clinics in Austria, Italy and Spain over a period of 9 months. All consecutive patients showing one or more melanocytic lesions with BWS, but not classified as melanoma dermoscopically, were included. Each lesion was photographed clinically and dermoscopically. All images were reviewed by one of us and the degree, type and location of BWS evaluated for each lesion. A panel of four experienced dermatopathologists independently reviewed all specimens for diagnosis and one of them evaluated presence and degree of melanosis and/or fibrosis. The main outcome measures were the percentage and histopathological correlates of lesions with different degree, type and location of BWS. RESULTS: All included lesions with BWS (n = 158) showed partial or focal regression histopathologically. One hundred and thirty-five (85.4%) lesions were diagnosed as melanocytic naevi (complete histopathological interobserver agreement), whereas 23 (14.6%) were defined as equivocal because at least one of four pathologists diagnosed the given lesion as melanoma. Only one lesion was diagnosed as melanoma by all four pathologists. The majority of naevi exhibited blue areas (84.4%) with a central distribution (57%) and involving < 50% of the lesion surface (89.6%). By contrast, 78.3% of equivocal lesions revealed a combination of white and blue areas with an irregular distribution (60.9%) and involving > 50% of the lesion surface (47.8%). CONCLUSIONS: Using degree and type of BWS, an algorithm was constructed that can be applied for the management of lesions exhibiting dermoscopic features of regression.

Adolescent↗