Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature.

This study aimed to elucidate the observed variable phenotypic expressivity associated with NRXN1 (Neurexin 1) haploinsufficiency by analyses of the largest cohort of patients with NRXN1 exonic deletions described to date and by comprehensively reviewing all comparable copy number variants in all disease cohorts that have been published in the peer reviewed literature (30 separate papers in all). Assessment of the clinical details in 25 previously undescribed individuals with NRXN1 exonic deletions demonstrated recurrent phenotypic features consisting of moderate to severe intellectual disability (91%), severe language delay (81%), autism spectrum disorder (65%), seizures (43%), and hypotonia (38%). These showed considerable overlap with previously reported NRXN1-deletion associated phenotypes in terms of both spectrum and frequency. However, we did not find evidence for an association between deletions involving the β-isoform of neurexin-1 and increased head size, as was recently published in four cases with a deletion involving the C-terminus of NRXN1. We identified additional rare copy number variants in 20% of cases. This study supports a pathogenic role for heterozygous exonic deletions of NRXN1 in neurodevelopmental disorders. The additional rare copy number variants identified may act as possible phenotypic modifiers as suggested in a recent digenic model of neurodevelopmental disorders. © 2013 Wiley Periodicals, Inc.

Accuracy of mucocutaneous leishmaniasis diagnosis using polymerase chain reaction: systematic literature review and meta-analysis

The diagnosis of mucocutaneous leishmaniasis (MCL) is hampered by the absence of a gold standard. An accurate diagnosis is essential because of the high toxicity of the medications for the disease. This study aimed to assess the ability of polymerase chain reaction (PCR) to identify MCL and to compare these results with clinical research recently published by the authors. A systematic literature review based on the Preferred Reporting Items for Systematic Reviews and Meta-Analyses: the PRISMA Statement was performed using comprehensive search criteria and communication with the authors. A meta-analysis considering the estimates of the univariate and bivariate models was performed. Specificity near 100% was common among the papers. The primary reason for accuracy differences was sensitivity. The meta-analysis, which was only possible for PCR samples of lesion fragments, revealed a sensitivity of 71% [95% confidence interval (CI) = 0.59; 0.81] and a specificity of 93% (95% CI = 0.83; 0.98) in the bivariate model. The search for measures that could increase the sensitivity of PCR should be encouraged. The quality of the collected material and the optimisation of the amplification of genetic material should be prioritised.

Superficial Acral Fibromyxoma involving the nail's apparatus. Case report and literature review.

Superficial Acral Fibromyxoma is a rare tumor of soft tissues. It is a relatively new entity described in 2001 by Fetsch et al. It probably represents a fibrohistiocytic tumor with less than 170 described cases. We bring a new case of SAF on the 5th toe of the right foot, in a 43-year-old woman. After surgical excision with safety margins which included the nail apparatus, it has not recurred (22 months of follow up). We carried out a review of the location of all SAF published up to the present day.

The Euromelanoma skin cancer prevention campaign in Europe: characteristics and results of 2009 and 2010.

Background  Euromelanoma is a skin cancer education and prevention campaign that started in 1999 in Belgium as 'Melanoma day'. Since 2000, it is active in a large and growing number of European countries under the name Euromelanoma. Objective  To evaluate results of Euromelanoma in 2009 and 2010 in 20 countries, describing characteristics of screenees, rates of clinically suspicious lesions for skin cancer and detection rates of melanomas. Methods  Euromelanoma questionnaires were used by 20 countries providing their data in a standardized database (Belgium, Croatia, Cyprus, Czech Republic, FYRO Macedonia, Germany, Greece, Hungary, Italy, Lithuania, Luxembourg, Malta, Moldavia, Portugal, Serbia, Slovenia, Spain, Sweden, Switzerland and Ukraine). Results  In total, 59 858 subjects were screened in 20 countries. Most screenees were female (64%), median ages were 43 (female) and 46 (male) and 33% had phototype I or II. The suspicion rates ranged from 1.1% to 19.4% for melanoma (average 2.8%), from 0.0% to 10.7% for basal cell carcinoma (average 3.1%) and from 0.0% to 1.8% for squamous cell carcinoma (average 0.4%). The overall positive predictive value of countries where (estimation of) positive predictive value could be determined was 13.0%, melanoma detection rates varied from 0.1% to 1.9%. Dermoscopy was used in 78% of examinations with clinically suspected melanoma; full body skin examination was performed in 72% of the screenees. Conclusion  Although the population screened during Euromelanoma was relatively young, high rates of clinically suspected melanoma were found. The efficacy of Euromelanoma could be improved by targeting high-risk populations and by better use of dermoscopy and full body skin examination.

Pulsatile tinnitus caused by an aneurysm of the transverse-sigmoid sinus: a new case report and review of literature.

A 28-year-old woman consulted for disabling pulsatile tinnitus. Clinical examination suggested a venous etiology. An aneurysm of the transverse-sigmoid sinus was identified on computed tomography angiography (CTA) and confirmed by digital subtraction angiography. Endovascular occlusion of the aneurysm with detachable coils permanently eliminated the bruit. Thus, this report is of a new case of pulsatile tinnitus caused by an aneurysm of the transverse-sigmoid sinus, with a focus on a literature review and etiopathophysiology. Embryological studies suggest that these aneurysms represent a partial remnant of the petrosquamous sinus.

Euromelanoma: a dermatology-led European campaign against nonmelanoma skin cancer and cutaneous melanoma: past, present and future.

Euromelanoma is a dermatologist-led skin cancer prevention programme conducting an annual screening and public education campaign in over 20 European countries. Within its 10-year history, Euromelanoma has screened over 260,000 individuals across Europe, detecting a significant number of cutaneous melanomas and nonmelanoma skin cancers, identifying high-risk individuals for further surveillance and promoting awareness on the suspicious features of melanoma and the hazardous effects of ultraviolet exposure. In this review article, we summarize the history of the Euromelanoma campaign, present its organizational structure and discuss the results of the campaign in individual countries and on a European scale. Euromelanoma has had a significant impact on melanoma prevention and early diagnosis in participating countries and, despite many challenges, has positively influenced public health attitudes towards regular mole examination and the implementation of preventive measures against skin cancer.

Iowa Ethics and Campaign Disclosure Board, Agency Performance Plan

Annual Report, Agency Performance Plan

Giant extra-hepatic thrombosed portal vein aneurysm: a case report and review of the literature.

BACKGROUND: Extrahepatic Portal vein aneurysm (EPVA) is a rare finding that may be associated with different complications, e.g. thrombosis, rupture, portal hypertension and compression of adjacent structures. It is being diagnosed more frequently with the advent of modern cross-sectional imaging. Our review of the English literature disclosed 13 cases of thrombosed EPVA. CASE PRESENTATION: A 50-years-old woman presented with acute abdominal pain but no other symptom. She had no relevant medical history. Palpation of the right upper quadrant showed tenderness. Laboratory tests were unremarkable. A computed tomography showed portal vein aneurysm measuring 88 × 65 mm with thrombosis extending to the superior mesenteric and splenic vein. The patient was treated conservatively with anticoagulation therapy. She was released after two weeks and followed on an outpatient basis. At two months, she reported decreased abdominal pain and her physical examination was normal. A computed tomography was performed showing a decreased thrombosis size and extent, measuring 80 × 55 mm. CONCLUSIONS: Although rare, surgeons should be made aware of this entity. Complications are various. Conservative therapy should be chosen in first intent in most cases. We reported the case of the second largest thrombosed extra-hepatic PVA described in the literature, treated by anticoagulation therapy with a good clinical and radiological response.

Advance care planning for institutionalised older people: an integrative review of the literature.

BACKGROUND: This integrative review of the literature describes the evolution in knowledge and the paradigm shift that is necessary to switch from advance directives to advance care planning. AIMS AND OBJECTIVES: It presents an analysis of concepts, trends, models and experiments that enables identification of the best treatment strategies, particularly for older people living in nursing homes. DESIGN: Based on 23 articles published between 1999 and 2012, this review distinguishes theoretical from empirical research and presents a classification of studies based on their methodological robustness (descriptive, qualitative, associative or experimental). RESULTS: It thus provides nursing professionals with evidence-based information in the form of a synthetic vision and conceptual framework to support the development of innovative care practices in the end-of-life context. While theoretical work places particular emphasis on the impact of changes in practice on the quality of care received by residents, empirical research highlights the importance of communication between the different persons involved about care preferences at the end of life and the need for agreement between them. CONCLUSIONS: The concept of quality of life and the dimensions and factors that compose it form the basis of Advance care planning (ACP) and enable the identification of the similarities and differences between various actors. They inform professionals of the need to ease off the biomedical approach to consider the attributes prioritised by those concerned, whether patients or families, so as to improve the quality of care at the end of life. IMPLICATIONS FOR PRACTICE: It is particularly recommended that all professionals involved take into account key stakeholders' expectations concerning what is essential at the end of life, to enable enhanced communication and decision-making when faced with this difficult subject.

Mixed medullary-papillary carcinoma of the thyroid: report of a case and review of the literature.

BACKGROUND: Mixed medullary-follicular thyroid carcinoma denotes a rare and heterogeneous group of tumors displaying morphological and immunophenotypical features of both origins within the same lesion. METHOD: We report a case of a 41-year-old woman with a lump in the right side of the neck, increasing in pain and size over several weeks. Serum levels of calcitonine (1140 ng/L) and carcinoembryonic antigen (288 microg/L) were very high. Fine-needle aspiration cytology suggested a diagnosis of medullary thyroid carcinoma. Total thyroidectomy, along with bilateral functional neck and mediastinal lymph-node dissection, were performed. RESULTS: The histopathological examination yielded a diagnosis of medullary carcinoma in the right thyroid lobe, closely intermingled with a nonencapsulated classical papillary carcinoma. One ipsilateral lymph node showed micrometastasis of the medullary counterpart. CONCLUSION: When compared with other cases reported in literature, this particular presentation should be recognized, if required, morphologic and functional criteria are used. The treatment is mostly surgical, driven by the medullary component. The presence of micrometastasis in 1 ipsilateral cervical lymph-node underlines the importance of cervicomediastinal lymph-node dissection and careful searching for metastatic disease.

Producción y Productividad Agrícolas en la Isla de Mallorca, 1590-1860

This paper proposes a detailed measurement of the agricultural development of the island of Majorca from the late sixteenth century to the midnineteenth century, with an emphasis on the products which made up the bulk of the island’s agricultural production. The authors have organized most of the existing databases in the island’s archives and have also incorporated quantitative and qualitative material from their own research and that of other colleagues. Due to their quality and regularity, the data are among the richest known for pre-industrial Europe. These sources lead to some conclusions which link with recent debates in European economic history concerning the calculation of economic growth in economies for periods before statistics were kept. The text presents a methodological analysis covering almost 80 per cent of agricultural production of the island of Majorca and leaves conclusions to be supplemented by further studies of the manufacturing and service sectors

Infection prothétique de hanche à Listeria monocytogenes [Prosthetic hip infection due to Listeria monocytogenes: review of the literature and case report].

With the ageing of the population, articular prosthetic replacements are becoming more and more frequent. One of the most feared complications is prosthetic infection, mostly due to bacteria of the cutaneous flora. Listeria monocytogenes is rarely the cause. This paper describes the management of a hip prosthetic infection due to Listeria monocytogenes. The patient was cured with antimicrobial therapy and a two-stage exchange. This case report creates an opportunity to review the literature in the aim of determining the risk factors and the optimal care.

Clinical results of enzyme replacement therapy in Fabry disease: a comprehensive review of literature.

Enzyme replacement therapy (ERT) has been used to treat Fabry disease - a progressive lysosomal storage disorder - since 2001. Two preparations of the enzyme alpha-galactosidase A are available in Europe: agalsidase alpha, produced in a human cell line, and agalsidase beta, produced in Chinese hamster ovary cells. To review critically the published evidence for the clinical efficacy of these two enzyme preparations. A systematic literature search was undertaken to identify open or randomised controlled trials published on Fabry disease since 2001. Eleven trials fulfilled the criteria for inclusion in this review, of a total of 586 references on Fabry disease. To date, no direct comparisons exists between the two available enzyme preparations. Significant clinical benefits compared with placebo, however, have been demonstrated with ERT, with positive effects on the heart, kidneys, nervous system and quality of life. The quality of most of these publications was less than optimal. Further prospective studies are required to confirm the long-term clinical benefits of ERT. More studies are also needed on the effects of ERT in women and on the use of ERT early in the course of Fabry disease, to prevent organ damage. Large national and international outcomes databases will also be invaluable in evaluating treatment effects and safety.