Search results for "Repo"
showing 10 items of 2753 documents
Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis.
2022
Abstract Background Congenital ichthyosis (CI) is a heterogeneous group of genetic disorders characterized by generalized dry skin, scaling and hyperkeratosis, often associated to erythroderma. They are rare diseases, with overall incidence of 6.7 in 100,000. Clinical manifestations are due to mutations in genes mostly involved in skin barrier formation. Based on clinical presentation, CI is distinguished in non-syndromic and syndromic forms. To date, mutations of more than 50 genes have been associated to different types of CI. Cases presentation We report on three Italian unrelated newborns showing clinical signs compatible with different forms of CI of variable severity, namely Harlequin…
A Rare Presentation of Mycosis Fungoides Mimicking Psoriasis Vulgaris
2009
Mycosis fungoides (MF) is an uncommon primary cutaneous lymphoma with a wide spectrum of clinicopathological manifestations. Diagnosis can be difficult in its early stages given the considerable overlap with more common benign dermatoses. We report an unusual case of MF in a 52-year-old male presenting with psoriasiform plaques on the palms and the soles who rapidly developed additional lesions on the scalp, limps and trunk. Punch biopsy of the face was obtained for routine histology and immunohistochemical stains. Chest X-ray, total body computed tomography scanning and excisional biopsy of the inguinal lymph node were performed. Review of the face biopsy revealed a diffuse dermal infiltra…
Report of the IVth Workshop of the Spanish National Network on Mycotoxins and Toxigenic Fungi and Their Decontamination Processes (MICOFOOD), Held in…
2019
Ensiling is a practice commonly employed worldwide to preserve different kinds of crops for long periods of storage with similar nutritional values to the fresh materials. Since silages are one of the major components of the ruminant diet, these materials represent a potential source of mycotoxins as a consequence of the growth of filamentous fungi. The aim of this study was to analyse the presence of aflatoxins and Fusarium mycotoxins in different types of silages (maize, grass, alfalfa, sugar beet pulp, immature corn and ryegrass) collected in dairy farms located in four Spanish regions. Fungal populations, lactic acid bacteria, pH and water activity of the samples were also evaluated. Pe…
Tetracycline-controlled transgenic targeting from the SCL locus directs conditional expression to erythrocytes, megakaryocytes, granulocytes, and c-k…
2006
The stem cell leukemia gene SCL, also known as TAL-1, encodes a basic helix-loop-helix transcription factor expressed in erythroid, myeloid, megakaryocytic, and hematopoietic stem cells. To be able to make use of the unique tissue-restricted and spatio-temporal expression pattern of the SCL gene, we have generated a knock-in mouse line containing the tTA-2S tetracycline transactivator under the control of SCL regulatory elements. Analysis of this mouse using different tetracycline-dependent reporter strains demonstrated that switchable transgene expression was restricted to erythrocytes, megakaryocytes, granulocytes, and, importantly, to the c-kit-expressing and lineage-negative cell fracti…
Treatment of chronic pain associated with bruxism through Myofunctional therapy
2017
<p> </p><p><span> </span>Temporomandibular disorders such as bruxism may cause painful clinical conditions and over time lead to chronic facial pain. A combination of therapeutic strategies that are usually undertaken by dentists and gnathologists to reduce bruxism episodes and consequently pain, are myofunctional therapy, pharmacological treatment, intraoral interventions and behavioural treatments. The aim of this work was to understand if myofuntional therapy alone can be a useful therapy for the reduction of chronic facial pain. 24 patients, 9 male and 15 female, age ranging between 25 and 45, were treated with a myofunctional therapy for 9 month. Each pati…
Non syndromic synchronous multiple odontogenic keratocysts in a western Indian population : a series of four cases
2018
Odontogenic keratocysts (OKCs) are developmental odontogenic cysts affecting the maxillofacial region and their association with a syndrome especially Naevoid basal cell carcinoma syndrome (NBCCS) is a common occurrence in comparison to non syndromic multiple OKCs. In a first, we present a series of four non syndromic cases with multiple OKCs in western Indian population. The presence of multiple OKC in our present case series may be because of the multifocal nature of the lesion rather than its association with any syndrome. Thus, a comprehensive evaluation of any patients reporting with multiple cysts/OKCs always has to be undertaken and the dental practitioner may be the play a key role …
Accidental migration of dental implant into the nasal cavity: Spontaneous expulsion through the nose
2021
Implant migration into the nasal fossa is a rare complication and it requires extraction by anterior rhinoscopy. We report a clinical case of placement of short dental implants, fixed or intruded in the nasal fossa floor, which was aspirated by the patient and spontaneously expelled a few days later. To the best of our knowledge, there have been no reports of spontaneously expulsion through the nasal cavity. Key words:Dental implant, nasal cavity, accidental migration.
Recurrence in a patient with a 10-year history of sinonasal mucosal melanoma manifesting as facial swelling
2017
Sinonasal mucosal melanoma is a rare tumor that develops slowly and may manifest with non specific signs and symptoms, causing significant delay in diagnosis. Local recurrence is common and usually occurs within the first two years after the initial treatment. Prognosis of recurrent lesions is poor and 5-year survival ranges between 10-47%. We report the clinical, radiographic, histopathological and immunohistochemical findings of a recurrent sinonasal mucosal melanoma which was diagnosed 10 years after the initial treatment, in a patient who presented with unilateral facial swelling and one-sided difficulty in breathing of two years duration. We discuss the causes of late diagnosis and rev…
Expression of Drosophila Cabut during early embryogenesis, dorsal closure and nervous system development.
2010
cabut (cbt) encodes a transcription factor involved in Drosophila dorsal closure (DC), and it is expressed in embryonic epithelial sheets and yolk cell during this process upon activation of the Jun N-terminal kinase (JNK) signaling pathway. Additional studies suggest that cbt may have a role in multiple developmental processes. To analyze Cbt localization through embryogenesis, we generated a Cbt specific antibody that has allowed detecting new Cbt expression patterns. Immunohistochemical analyses on syncytial embryos and S2 cells reveal that Cbt is localized on the surface of mitotic chromosomes at all mitotic phases. During DC, Cbt is expressed in the yolk cell, in epidermal cells and in…
Investigating the Role of Guanosine on Human Neuroblastoma Cell Differentiation and the Underlying Molecular Mechanisms
2021
Neuroblastoma arises from neural crest cell precursors failing to complete the process of differentiation. Thus, agents helping tumor cells to differentiate into normal cells can represent a valid therapeutic strategy. Here, we evaluated whether guanosine (GUO), a natural purine nucleoside, which is able to induce differentiation of many cell types, may cause the differentiation of human neuroblastoma SH-SY5Y cells and the molecular mechanisms involved. We found that GUO, added to the cell culture medium, promoted neuron-like cell differentiation in a time- and concentration-dependent manner. This effect was mainly due to an extracellular GUO action since nucleoside transporter inhibitors r…