61 results on '"Brena M"'
Search Results
52. Allergic contact dermatitis caused by topical antiacne drugs.
- Author
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Veraldi S, Brena M, and Barbareschi M
- Subjects
- Administration, Topical, Humans, Acne Vulgaris drug therapy, Anti-Bacterial Agents adverse effects, Benzoyl Peroxide adverse effects, Dermatitis, Allergic Contact pathology, Retinoids adverse effects
- Abstract
Acne is a chronic inflammatory disease for which a long-lasting therapy, very often with topical drugs, is necessary. Despite the fact that several topical antiacne drugs (in particular, tretinoin, benzoyl peroxide, clindamycin and erythromycin) are used for many years, often on broad skin surfaces and for long periods of time, their potential for contact sensitization is low. Their potential for phototoxic and photoallergic reactions is also low. Much more frequent is irritant contact dermatitis caused by some of these drugs, in particular, retinoids and benzoyl peroxide, for which the short contact therapy has been recently suggested.
- Published
- 2015
- Full Text
- View/download PDF
53. The phenotypic and genotypic spectra of ichthyosis with confetti plus novel genetic variation in the 3' end of KRT10: from disease to a syndrome.
- Author
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Spoerri I, Brena M, De Mesmaeker J, Schlipf N, Fischer J, Tadini G, Itin PH, and Burger B
- Subjects
- Adult, Child, Exons genetics, Female, Genotype, Humans, Ichthyosiform Erythroderma, Congenital diagnosis, Ichthyosiform Erythroderma, Congenital genetics, Introns genetics, Male, Mutation, Phenotype, Polymorphism, Genetic, Syndrome, Young Adult, Genetic Variation, Ichthyosiform Erythroderma, Congenital physiopathology, Ichthyosis genetics, Keratin-10 genetics
- Abstract
Importance: Ichthyosis with confetti (IWC) is a genodermatosis caused by dominant negative mutations in the gene encoding keratin 10 (KRT10). We investigated clinical and genetic details of a substantial number of patients with IWC in order to define major and minor criteria for diagnosis of this rare disorder., Observations: Parallel clinical investigation of 6 patients with IWC revealed a novel spectrum of phenotypes. We found several features that qualify as major criteria for diagnosis, which are clearly and consistently associated with the condition. These included malformation of ears, hypoplasia of mammillae, and dorsal acral hypertrichosis. Genetic analysis of patients revealed several different frameshift mutations in intron 6 or exon 7 of KRT10. Analysis of this locus in 17 unrelated control individuals revealed 2 novel polymorphisms of KRT10., Conclusions and Relevance: We present for the first time to our knowledge the spectrum of clinical variability of IWC in 6 patients with confirmed mutations in KRT10. From this, we have extracted major and minor criteria to aid early and correct clinical diagnosis. Ectodermal malformations, present in all patients, suggest a novel classification of IWC as a syndrome. There is remarkable genetic variation at the IWC disease locus within control individuals from the general population.
- Published
- 2015
- Full Text
- View/download PDF
54. Infection-interactions in Ethiopian village chickens.
- Author
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Bettridge JM, Lynch SE, Brena MC, Melese K, Dessie T, Terfa ZG, Desta TT, Rushton S, Hanotte O, Kaiser P, Wigley P, and Christley RM
- Subjects
- Animals, Antibodies, Bacterial blood, Antibodies, Viral blood, Bacterial Infections epidemiology, Bacterial Infections microbiology, Coinfection epidemiology, Coinfection microbiology, Coinfection virology, Cross-Sectional Studies, Ethiopia epidemiology, Female, Male, Poultry Diseases epidemiology, Principal Component Analysis, Risk Factors, Virus Diseases epidemiology, Virus Diseases virology, Bacterial Infections veterinary, Chickens, Coinfection veterinary, Ecosystem, Poultry Diseases microbiology, Poultry Diseases virology, Virus Diseases veterinary
- Abstract
Chickens raised under village production systems are exposed to a wide variety of pathogens, and current or previous infections may affect their susceptibility to further infections with another parasite, and/or can alter the manifestation of each infection. It is possible that co-infections may be as important as environmental risk factors. However, in cross-sectional studies, where the timing of infection is unknown, apparent associations between infections may be observed due to parasites sharing common risk factors. This study measured antibody titres to 3 viral (Newcastle disease, Marek's disease and infectious bursal disease) and 2 bacterial (Pasteurella multocida and Salmonella) diseases, and the infection prevalence of 3 families of endo- and ecto-parasites (Ascaridida, Eimeria and lice) in 1056 village chickens from two geographically distinct populations in Ethiopia. Samples were collected during 4 cross-sectional surveys, each approximately 6 months apart. Constrained ordination, a technique for analysis of ecological community data, was used to explore this complex dataset and enabled potential relationships to be uncovered and tested despite the different measurements used for the different parasites. It was found that only a small proportion of variation in the data could be explained by the risk factors measured. Very few birds (9/1280) were found to be seropositive to Newcastle disease. Positive relationships were identified between Pasteurella and Salmonella titres; and between Marek's disease and parasitic infections, and these two groups of diseases were correlated with females and males, respectively. This may suggest differences in the way that the immune systems of male and female chickens interact with these parasites. In conclusion, we find that a number of infectious pathogens and their interactions are likely to impact village chicken health and production. Control of these infections is likely to be of importance in future development planning., (Copyright © 2014 The Authors. Published by Elsevier B.V. All rights reserved.)
- Published
- 2014
- Full Text
- View/download PDF
55. Familial papular epidermal nevus with "skyline" basal cell layer.
- Author
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Brena M, Besagni F, Boneschi V, and Tadini G
- Subjects
- Biopsy, Family, Female, Humans, Infant, Male, Nevus, Young Adult, Epidermis pathology, Keratinocytes pathology, Nevus, Pigmented genetics, Nevus, Pigmented pathology, Skin Neoplasms genetics, Skin Neoplasms pathology
- Abstract
Papular epidermal nevus with "skyline" basal cell layer (PENS), a novel keratinocytic nevus, has recently been described as a mosaic condition with varying presentations. We herein describe typical PENS lesions, which usually occur sporadically, affecting two members of the same family. The concept of paradominant inheritance is proposed to explain the paradox of occasional transmission of normally sporadically occurring traits., (© 2013 Wiley Periodicals, Inc.)
- Published
- 2014
- Full Text
- View/download PDF
56. Papular epidermal nevus with "skyline" basal cell layer (PENS) following a Blaschko linear pattern.
- Author
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Faure E, Tadini G, Brena M, and Cassulini LR
- Subjects
- Adolescent, Biopsy, Humans, Male, Nevus pathology, Shoulder, Epidermis pathology, Skin Neoplasms pathology
- Abstract
Papular epidermal nevus with "skyline" basal cell layer (PENS), a variant of epidermal nevi, has recently been described as a small, round or polygonal papule, visible at birth or shortly thereafter, with characteristic histopathologic features. It has been considered a separate entity from keratinocytic nevi because no lesion observed thus far has followed any of the known archetypical mosaic patterns. Here we describe for the first time a PENS lesion following a linear distribution pattern along Blaschko's lines., (© 2013 Wiley Periodicals, Inc.)
- Published
- 2013
- Full Text
- View/download PDF
57. Nevoid follicular mucinosis: a new type of hair follicle nevus.
- Author
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Tadini G, Boldrini MP, Brena M, Pezzani L, Marchesi L, and Rongioletti F
- Subjects
- Child, Female, Humans, Keratinocytes metabolism, Keratinocytes pathology, Mucins metabolism, Hair Follicle metabolism, Hair Follicle pathology, Mucinosis, Follicular metabolism, Mucinosis, Follicular pathology, Nevus metabolism, Nevus pathology, Skin metabolism, Skin pathology, Skin Neoplasms metabolism, Skin Neoplasms pathology
- Abstract
Follicular mucinosis represents a term for a histopathologic reaction pattern in follicular epithelium. It is a characteristic of alopecia mucinosa. However, it may also occur in a variety of unrelated conditions. Epidermal nevi are considered to be hamartomatous disorders and they can show a predominant component of non-organoid (keratinocytes) and/or organoid nevi. All the cases of epidermal nevi described with mucin deposits until now are reported as mucinous nevus or mucinous eccrine nevus; in the first type of disorder, diffuse mucin deposition is only seen in the papillary dermis, and in the second type, the mucin is found around the proliferation of eccrine structures. We believe this is the first reported case of epidermal nevus along Blaschko's lines exhibiting typical microscopic findings of mucinosis exclusively distributed inside the follicular epithelia., (© 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)
- Published
- 2013
- Full Text
- View/download PDF
58. X-linked reticulate pigmentary disorder with systemic manifestations: a new family and review of the literature.
- Author
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Pezzani L, Brena M, Callea M, Colombi M, and Tadini G
- Subjects
- Child, Preschool, Diagnosis, Differential, Female, Genetic Diseases, X-Linked complications, Genetic Diseases, X-Linked diagnosis, Genetic Linkage, Heterozygote, Humans, Hyperpigmentation complications, Hyperpigmentation diagnosis, Incontinentia Pigmenti complications, Male, Genes, X-Linked genetics, Genetic Diseases, X-Linked genetics, Hyperpigmentation genetics, Incontinentia Pigmenti genetics, Skin pathology
- Abstract
X-linked reticulate pigmentation disorder with systemic manifestations (XLPDR) is an extremely rare genodermatosis with recessive X-linked inheritance but unknown molecular basis. In males, cutaneous involvement is characterized by reticulate hyperpigmentation of the skin that is associated with a typical facies and severe systemic involvement. In the carrier females, manifestations are apparently limited to the skin with patchy linear hyperpigmentation following the lines of Blaschko that are similar to stage III incontinentia pigmenti. Thus far, only five families affected by this disorder have been described. We report on a new family with clinical features of XLPDR and compare it with those reported in the literature., (Copyright © 2013 Wiley Periodicals, Inc.)
- Published
- 2013
- Full Text
- View/download PDF
59. Ectodermal dysplasias: the p63 tail.
- Author
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Tadini G, Santagada F, Brena M, Pezzani L, and Nannini P
- Subjects
- Humans, Phenotype, Ectodermal Dysplasia diagnosis, Ectodermal Dysplasia genetics, Transcription Factors genetics, Tumor Suppressor Proteins genetics
- Abstract
Various combinations of limb anomalies, ectodermal dysplasias and orofacial clefts characterize heterozygous mutations in the transcription factor gene p63. The causative gene is crucial during embryonic ontogenesis, mostly in the development of limbs and other ectodermal derived tissues. The pattern of mutations in six different p63-related syndromes (EEC syndrome, AEC syndrome, ADULT syndrome, LMS syndrome, RHS syndrome, SHFM syndrome) shows genotype-phenotype correlations. The most frequent p63 mutation syndrome is the EEC syndrome, characterized by ectrodactyly, ectodermal dysplasia and cleft lip/palate. Ectodermal dysplasia is characterized by ectrodactyly often associated with syndactyly, sparse hair, dry skin, hypo-anodontia, dysplastic nails and alterations in sebaceous glands, mammary glands and nipples. The third hallmark of the EEC syndrome is orofacial clefting, in particular lip and palate. p63 mutations also cause the other five inherited syndromes: symptoms are overlapping, but each of these diseases has its own characteristic phenotypic features: for instance AEC syndrome (ankyloblepharon-ectodermal defects-cleft lip/palate) has as distinctive feature ankyloblepharon, while mammary glands and nipples hypoplasia are frequent findings in LMS syndrome and in ADULT syndrome (acro-dermato-ungual-lacrimal-tooth syndrome). The latter can be distinguished from other p63 syndromes by the absence of orofacial clefting and by prominent ectodermal signs. The narrowest genotype-phenotype correlation is in the EEC and AEC syndromes. All EEC missense mutations are clustered in the DNA binding domain and do not bind to DNA; in contrast, all missens mutations reported in AEC syndrome are localized in the α-motif domain, and it has been demonstrated that they disrupt interaction with other proteins. LMS and ADULT syndrome have their own unique mutated amino-acid residues. Only two amino-acid residues are known to be mutated amongst ADULT syndrome: asparagines 6 and arginine 298. Although R298 is in the DNA binding domain, it is functionally different from the EEC mutations, because its substitution by glutamine does not lead to a loss of DNA binding, but to a gain of transactivation activity of the ∆Np63γ isoform. In this paper we discuss the consistent phenotypic features associated with these gain of function mutations.
- Published
- 2013
60. Unraveling the mystery of the disorder of keratinization: the path of syndromic ichthyoses.
- Author
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Pezzani L, Brena M, Santagada F, Faure E, and Tadini G
- Subjects
- Humans, Keratins metabolism, Syndrome, Ichthyosis complications, Ichthyosis diagnosis, Ichthyosis etiology, Ichthyosis therapy
- Abstract
In the last few years the progresses in molecular analysis allow better definitions of ichthyoses and lead to the necessity of a new classification and a review of nomenclature of inherited ichthyoses. So, in 2007 the First Consensus Conference on Ichthyoses was performed. We present here a short review of the new classification of syndromic ichthyoses together with clinical and molecular features.
- Published
- 2013
61. [Observations on glycometry in pleural effusions].
- Author
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Italia R, Cogo L, Berni F, and Brena M
- Subjects
- Heart Failure complications, Humans, Lung Neoplasms complications, Pleural Effusion etiology, Pleurisy complications, Tuberculosis, Pulmonary complications, Glucose analysis, Pleural Effusion analysis
- Published
- 1967
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