Search results for " geni"
showing 10 items of 1026 documents
Interferon-beta: a therapeutic for autoimmune lupus in MRL-Faslpr mice.
2005
Type I interferons are associated with lupus. Genes that are regulated by IFN-alpha are upregulated in pediatric lupus patients. Gene deletion of the IFN-alpha/beta receptor in experimental lupus-like NZB mice results in reduced disease activity. Conversely, IFN-beta is a well-established treatment in multiple sclerosis, another autoimmune disease. For determining whether IFN-beta treatment is harmful or beneficial in lupus, MRL-Fas(lpr) mice were injected with this type I IFN. Treatment was initiated in MRL-Fas(lpr) mice with mild and advanced disease. IFN-beta was highly effective in prolonging survival and ameliorating the clinical (renal function, proteinuria, splenomegaly, and skin les…
An Anti-Ubiquitin Antibody Response in Transitional Cell Carcinoma of the Urinary Bladder
2015
BackgroundTo use combinatorial epitope mapping ("fingerprinting") of the antibody response to identify targets of the humoral immune response in patients with transitional cell carcinoma (TCC) of the bladder.MethodsA combinatorial random peptide library was screened on the circulating pool of immunoglobulins purified from an index patient with a high risk TCC (pTa high grade plus carcinoma in situ) to identify corresponding target antigens. A patient cohort was investigated for antibody titers against ubiquitin.ResultsWe selected, isolated, and validated an immunogenic peptide motif from ubiquitin as a dominant epitope of the humoral response. Patients with TCC had significantly higher anti…
A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma
2011
International audience; So far, no common environmental and/or phenotypic factor has been associated with melanoma and renal cell carcinoma (RCC). The known risk factors for melanoma include sun exposure, pigmentation and nevus phenotypes; risk factors associated with RCC include smoking, obesity and hypertension. A recent study of coexisting melanoma and RCC in the same patients supports a genetic predisposition underlying the association between these two cancers. The microphthalmia-associated transcription factor (MITF) has been proposed to act as a melanoma oncogene; it also stimulates the transcription of hypoxia inducible factor (HIF1A), the pathway of which is targeted by kidney canc…
Fertility in McCune Albright syndrome female: A case study focusing on AMH as a marker of ovarian dysfunction and a literature review.
2021
Abstract Background The molecular basis of McCune Albright syndrome (MAS) is a recurrent GNAS Postzygotic gain of function sporadic mutation, resulting in a mosaic disease. Most of girls present precocious puberty, caused by the development of recurrent ovarian cysts with autonomous Hyperestrogenic stimulation. After menarche, the majority of patients with ovarian GNAS mutation have menstrual disturbances and infertility. Objectives We wanted to focus on the fertility of MAS females and propose an appropriate management, by a detailed case report and an exhaustive review of the literature on fertility and pregnancy in MAS females. Results We present the case of a 29-year-old MAS female, who…
Expression of 60-kD Heat Shock Protein Increases during Carcinogenesis in the Uterine Exocervix
2002
<i>Objectives:</i> The aim of the present study was to determine the presence and expression of the 60-kD heat shock protein (HSP60) in the dysplasia-carcinoma sequence in the uterine exocervix and to evaluate its diagnostic and prognostic significance. <i>Methods and Results:</i> We performed Western blot and immunohistochemical analyses on biopsies from 40 cases, consisting of 10 normal exocervical biopsies, 10 low-grade squamous intraepithelial lesions (L-SIL), 10 high-grade squamous intraepithelial lesions (H-SIL) and 10 cancerous exocervices (G2 grade). The immunohistochemical results were quantified by computer-assisted image analysis. Western blot analysis sho…
Hypokalemic rhabdomyolysis associated with Bartter's syndrome.
1983
Severe potassium deficiency is an uncommon cause of rhabdomyolysis. We recently treated a 45-year-old patient with myalgia, serious generalized weakness, increased serum creatine kinase and myoglobin level as well as excessive hypokalemia. Histological examination of deltoid muscle biopsy showed rhabdomyolysis. After complete recovery of muscle damage by potassium substitution Bartter's syndrome proved to be the cause of initial and persistent hypokalemia.
PREPARAZIONE E CARATTERIZZAZIONE DI NANOSISTEMI LIPIDICI PER IL DIREZIONAMENTO E IL RILASCIO MODIFICATO DI FARMACI E ACIDI NUCLEICI IN TERAPIA ONCOLO…
2016
sono stati sviluppati sistemi nanoparticellari in grado di intrappolare elevate quantità di farmaci e di legare materiale genico. I sistemi preparati sono stati caratterizzati da un punto di vista chimico-fisico e tecnologico farmaceutico. Sono stati infine utilizzati per prove in vitro e i risultati ottenuti hanno mostrato che essi possiedono le caratteristiche per potere essere considerati dei validi carrier per farmaci e materiale genico nel trattamento oncologico.
Macroscytus raunoi, a new burrower bug species from Papua New Guinea (Hemiptera: Heteroptera: Cydnidae: Cydninae)
2016
Abstract Macroscytus raunoi, a new species of the genus Macroscytus Fieber, 1860, is described from the Morobe Province on the northern coast of Papua New Guinea. The new species is similar in its morphological characters to Australian M. arnhemicus J. A. Lis, 1999. Differences in morphology and male genitalia which enable separation of both species are provided.
Impact of Obesity in Kidney Diseases.
2021
The clinical consequences of obesity on the kidneys, with or without metabolic abnormalities, involve both renal function and structures. The mechanisms linking obesity and renal damage are well understood, including several effector mechanisms with interconnected pathways. Higher prevalence of urinary albumin excretion, sub-nephrotic syndrome, nephrolithiasis, increased risk of developing CKD, and progression to ESKD have been identified as being associated with obesity and having a relevant clinical impact. Moreover, renal replacement therapy and kidney transplantation are also influenced by obesity. Losing weight is key in limiting the impact that obesity produces on the kidneys by reduc…
Nuovi scenari familiari e omoparentalità: autopercezioni e relazioni sociali
2015
Le trasformazioni strutturali e relazionali che hanno coinvolto l'asse coniugale e quello genitoriale, rappresentano mutamenti che hanno messo in discussione il tradizionale modello di famiglia costituita da una coppia eterosessuale coniugata e dai figli biologici (Garro, Salerno, 2014).