Comparison of drought stress response and gene expression between a GM maize variety and a near-isogenic non-GM variety

Maize MON810, grown and commercialised worldwide, is the only cultivated GM event in the EU. Maize MON810, variety DKC6575, and the corresponding near-isogenic line Tietar were studied in different growth conditions, to compare their behaviour in response to drought. Main photosynthetic parameters were significantly affected by water stress in both GM and non –GM varieties to a similar extents. Though DKC6575 (GM) had a greater sensitivity in the early phase of stress response as compared with Tietar (non GM), after six days of stress they behaved similarly, and both varieties recovered from stress damage. Profiling gene expression in water deficit regimes and in a generalised water stress condition showed an up-regulation of many stress- responsive genes, but a greater number of differentially expressed genes was observed in Tietar, with genes belonging to transcription factor families and genes encoding HSPs, LEAs and detoxification enzymes. Since induction of these genes have been indicated from the literature as typical of stress responses, their activation in Tietar rather than in DKC6575 may be reminiscent of a more efficient response to drought. DKC6575 was also analysed for the expression of the transgene CryIAb (encoding the delta-endotoxin insecticidal protein) in water deficit conditions. In all the experiments, the CryIAb transcript was not influenced by water stress, but was expressed at a constant level.. This suggests that though possessing a different pattern of sensitivity to stress, the GM variety maintains the same expression level for the transgene

Skin Surface Reconstruction and 3D Vessels Segmentation in Speckle Variance Optical Coherence Tomography

In this paper we present a method for in vivo surface reconstruction and 3D vessels segmentation from Speckle-Variance Optical Coherence Tomography imaging, applied to dermatology. This novel technology allows to capture motion underneath the skin surface revealing the presence of blood vessels. Standard OCT visualization techniques are inappropriate for this new source of information, that is crucial in early skin cancer diagnosis. We investigate 3D reconstruction techniques for better visualization of both the external and internal structure of skin lesions, as a tool to help clinicians in the task of qualitative tumor evaluation

Role of microsatellite instability, immunohistochemistry and Mismatch Repair germline aberrations in immunosuppressed transplant patients: a phenocopy dilemma in Muir-Torre Syndrome.

Sebaceous tumours and keratoacanthomas are uncommon neoplasms that constitute important clinical criteria for Muir-Torre Syndrome (MTS) diagnosis. In MTS patients, the increased risk of developing synchronous or metachronous visceral malignancies is characterized by autosomal dominant inheritance. However, there are further conditions, other than MTS, that increase the risk of sebaceous neoplasms, e.g. iatrogenic immunosuppression. In this latter scenario, the sebaceous tumours can present Microsatellite instability (MSI) and loss of Mismatch-Repair (MMR) proteins, characteristic of hereditary syndromes, even in the absence of MMR germline mutations. In this paper we examine transplant probands in which the immunosuppressive therapies unmask the MTS cutaneous phenotypes, showing microsatellite instability (MSI) and loss of MMR protein expression, as demonstrated by immunohistochemistry (IHC). Furthermore, mismatch repair genes (MMR) sequencing analysis identified the presence of germline mutations in MTS-suspected individuals, in the absence of a visceral MTS phenotype. It is well known that immunosuppression plays a central role in the development of sebaceous tumours in both MTS and in non-syndromic settings. Sebaceous skin tumours MSI status and IHC profiles can be influenced by epigenetic or iatrogenic factors, however they constitute valuable tools and a cost-effective approach to screen individuals who otherways should undergo MMR genes direct sequencing in the context of immunosuppression. In this complex setting, the choice of the immunosuppressive drug becomes a critical decision for the management of both MTS and sporadic transplant patients, that may benefit from the administration of immunosuppressive drugs, resulting in a low impact on skin cancerogenesis

Microsatellite instability, immunohistochemistry and germline mismatch repair gene mutations for the diagnosis of Muir-Torre syndrome in immunosuppressed patients

Although rare sebaceous tumors and keratoacanthomas are clinical criteria for Muir-Torre syndrome (MTS), they can also be found in the context of immunosuppression. We present here two patients who underwent organ transplantation in which immunosuppression unmasked MTS through the early appearance of the cutaneous sebaceous neoplasms. In all of their sebaceous tumors we detected microsatellite instability (MSI) e loss of mutS protein homolog 2 (MSH2) and 6 (MSH6) expression at immunohistochemistry (IHC). Although in the absence of visceral MTS phenotype, we performed the sequencing analysis for mismatch repair genes (MMR) identifying two novel MSH2 and MSH6 germline mutations. The combination of MSI and IHC status can therefore be considered useful for the recognition of MTS, even in case of incomplete MTS phenotype and/or in immunosuppressed patients. It would allow a costeffective approach to identify individuals who should undergo MMR genes direct sequencing

High-Definition Optical Coherence Tomography for the in vivo Detection of Demodex Mites

Background: Demodex mites are involved in different skin diseases and are commonly detected by skin scrape tests or superficial biopsies. A new high-definition optical coherence tomography (HD-OCT) with high lateral and axial resolution in a horizontal (en-face) and vertical (slice) imaging mode might offer the possibility of noninvasive and fast in vivo examination of demodex mites. Methods: Twenty patients with demodex-related skin diseases and 20 age- and gender-matched healthy controls were examined by HD-OCT. Mites per follicle and follicles per field of view were counted and compared to skin scrape tests. Results: HD-OCT images depicted mites in the en-face mode as bright round dots in groups of 3-5 mites per hair follicle. In the patients with demodex-related disease, a mean number of 3.4 mites per follicle were detected with a mean number of 2.9 infested follicles per area of view compared to a mean of 0.6 mites in 0.4 infested follicles in the controls. The skin scrape tests were negative in 21% of the patients. Conclusion: The innovative HD-OCT enables fast and noninvasive in vivo recognition of demodex mites and might become a useful tool in the diagnosis and treatment monitoring of demodex-related skin diseases. Copyright (C) 2012 S. Karger AG, Base

Skeletal stigmata as keys to access to the composite and ancient Gorlin-Goltz syndrome history: The Egypt, Pompeii and Herculaneum lessons

There are several genetic diseases with a wide spectrum of congenital bone stigmata in association to cutaneous and visceral benign and malignant neoplasms. Gorlin-Goltz syndrome, also named nevoid basal cell carcinoma syndrome, is an autosomal dominant systemic disease with almost complete penetrance and high intra-familial phenotypic variability, caused by germline mutations of the gene PTCH1. The syndrome is characterized by unusual skeletal changes and high predisposition to the development of multiple basal cell carcinomas, odontogenic keratocysts tumors and other visceral tumors. The Gorlin syndrome, clinically defined as distinct syndrome in 1963, existed during Dynastic Egyptian times, as revealed by a costellation of skeletal findings compatible with the syndrome in mummies dating back to 3000years ago and, most likely, in the ancient population of Pompeii. These paleogenetic and historical evidences, together with the clinical and biomolecular modern evidences, confirm the quite benign behavior of the syndrome and the critical value of the multiple and synchronous skeletal anomalies in the recognition of these rare and complex genetic disease

Fibroepithelioma of Pinkus: Solitary tumor or sign of a complex gastrointestinal syndrome

Fibroepithelioma of Pinkus (FEP), which is considered to be an uncommon variant of basal cell carcinoma, has been described in association with other systemic diseases. However, no specific studies are currently available on this subject. The aim of our study was to evaluate the clinical and morphological characteristics of FEP and investigate whether this rare tumor is a single entity or seen in the context of a more complex syndrome. We retrospectively analyzed 49 cases of FEP diagnosed and excised in a single academic institution from 1995 to 2011. The tumors were mainly located on the trunk (77.55%), followed by the lower extremities (12.20%) and the head and neck (10.20%). In 9 of the 49 cases (18%), FEP was associated with gastrointestinal tumors. The abovementioned cases are presented in an attempt to make clinicians more aware of a possible association between FEP and gastrointestinal cancer. Although a possible underlying common genetic background between FEP and gastrointestinal tumors was not provided, our study suggests that patients with FEP should be screened for the occurrence of gastrointestinal tumors

Annually recurring erythema annulare centrifugum: a case report

Introduction: Erythema annulare centrifugum is a rare cutaneous disease characterized by erythematous and violaceous annular plaques that usually involved the thighs and the legs. The eruption may be associated with an underlying disease and its accompanying characteristic symptoms. For these reasons, a full physical examination should be conducted to exclude underlying disorders. Annually recurring erythema annulare centrifugum is a rare and peculiar variant of erythema annulare centrifugum with the same clinical and histopathological characteristics. The lesions of annually recurring erythema annulare centrifugum tend to regress spontaneously after a variable period of days to months with yearly recurrence for many years. Case presentation: We present the case of a 46-year-old caucasian woman affected by annually recurring erythema annulare centrifugum, which is a peculiar form of superficial erythema annulare centrifugum. The lesions have the same clinical and histopathological characteristics of the classical superficial form of erythema annulare centrifugum and tend to regress spontaneously after a variable period of days to months. In our case, no precipitating factors were identified and no underlying diseases were found. Every year for the last 12 years the lesions started to appear in the summer months and regressed spontaneously in autumn. Conclusions: Cases of annually recurring erythema annulare centrifugum are rarely reported in the literature and generally no causative agent can be detected. The main feature of annually recurring erythema annulare centrifugum is the constant annual and seasonal recurrence of the lesions for many years

Pseudoxanthoma elasticum and reflectance confocal microscopy: report of two affected young sisters

Pseudoxanthoma elasticum (PXE) is a rare inherited multisystem disorder that mainly affects skin, eyes and cardiovascular system. The associated clinical signs are due to progressive calcification of elastic fibres and blood vessels, despite normal levels of calcium and phosphorus in blood and urine. The first clinical description of the disease was done in 1881 by Rigal, and in 1896 it was named PXE by Darier. Transmission of the disease is autosomal recessive. PXE is caused by homozygous or compound heterozygous mutations in the ATP-binding cassette subfamily C member 6 (ABCC6) gene, which encodes a transmembrane transport ADP-dependent protein (MRP6). The gene is expressed predominantly in the liver and kidney, and found in low level in the tissue involved by PXE. The clinical expression of PXE is heterogeneous with considerable variation in age of onset, progression and severity of the disease, even in individuals of the same family with identical mutations. We present the case of two young sisters affected by PXE and the correlation between the histopathology and the reflectance confocal microscopy (RCM). Parents and brother carry one copy of the mutated gene, without showing signs and symptoms of the disorder. We report the main clinical aspects of PXE and we highlight the importance of early diagnosis of the disease for adequate therapeutical management of associated complications