This report documents the first known cases of lepromatous leprosy in patients with chronic mucocutaneous candidiasis (CMC) linked to a gain-of-function mutation in the STAT1 gene. Two related patients, a mother and daughter, who both suffer from CMC and lepromatous leprosy, carry a heterozygous STAT1 mutation (c.821G>A; p.
View Article and Find Full Text PDFObjectives: Mycobacterium leprae is able to infect Schwann cells leading to neural damage. Neurotrophins are involved in nervous system plasticity and impact neural integrity during diseases. Investigate the association between single nucleotide polymorphisms in neurotrophin genes and leprosy phenotypes, especially neural damage.
View Article and Find Full Text PDFNeglected tropical diseases encompass a group of chronic and debilitating infectious diseases that primarily affect marginalized populations. Among these diseases, leprosy and leishmaniasis are endemic in numerous countries and can result in severe and disfiguring manifestations. Although there have been reports indicating a higher incidence of leprosy and leishmaniasis in males, the underlying factors contributing to this observation remain unclear.
View Article and Find Full Text PDFLeprosy reaction (LR) and physical disability (PD) are the most significant clinical complications of leprosy. Herein, we assessed the circulating serum-sTREM-1 and TNF-α levels and their genetic polymorphisms in leprosy. Serum-sTREM-1 and TNF-α levels were measured in leprosy patients (LP) before treatment ( = 51) and from their household contacts (HHCs; = 25).
View Article and Find Full Text PDFBackground Considering the cross-regulation of Th1 and Th2 responses, we hypothesised that atopic diseases (Th2) inhibit the protective Th1 immune response to Mycobacterium leprae and exacerbates leprosy. Objective In this study, we aimed to evaluate the association between leprosy and atopic diseases. Methods To evaluate the association of atopic diseases with leprosy, we conducted a case-control study that included leprosy patients (n = 333) and their household contacts (n = 93).
View Article and Find Full Text PDFThis is a case series study to evaluate immunological markers associated with schistosomiasis advanced fibrosis, including 69 patients from an endemic area from the State of Sergipe and from the Hepatology Service of the University Hospital in Sergipe, Brazil. Hepatic fibrosis was classified based on Niamey protocol for ultrasonography (US). Immune response to antigens was evaluated by stimulating peripheral blood mononuclear cells (PBMCs) from these patients with either adult worm (SWAP-10 μg/ml) or egg (SEA-10 μg/ml) antigens or purified protein derivative of turberculin (PPD-10 μg/ml) or phytohemagglutinin (PHA-1 μg/ml) for 72 h.
View Article and Find Full Text PDFIntroduction: Leprosy is an infectious disease caused by Mycobacterium leprae. This study aimed to understand the distribution and impact of Hansen's disease in different regions of Brazil and the outcome of cases in recent years.
Methodology: An ecological study was conducted throughout the Brazilian territory for 11 years (2008-2018).
The APSES family, comprising of the transcriptional regulators Asm1p, Phd1p, Sok2p, Efg1p, and StuA, is found exclusively in fungi and has been reported to control several cellular processes in these organisms. However, its function in dermatophytes has not yet been completely understood. Here, we generated two null mutant strains by deleting the stuA gene in the dermatophyte Trichophyton rubrum, the most common clinical isolate obtained from human skin and nail mycoses.
View Article and Find Full Text PDFIsolated growth hormone (GH) deficiency (IGHD) affects approximately 1 in 4,000 to 1 in 10,000 individuals worldwide. We have previously described a large cohort of subjects with IGHD due to a homozygous mutation in the GH releasing hormone (GHRH) receptor gene. These subjects exhibit throughout the life very low levels of GH and its principal mediator, the Insulin Growth Factor-I (IGF-I).
View Article and Find Full Text PDFCongenital Zika syndrome (CZS) is a cluster of malformation, and the mechanisms that lead it are still unclear. Using hypothesis-driven candidate genes and their function in viral infections, single-nucleotide polymorphisms (SNPs) were genotyped by quantitative polymerase chain reaction in a sample population from Sergipe State, Brazil. This study shows that rs3775291 SNP at Toll-like receptor 3, which triggers type I interferon antiviral responses in mothers infected by Zika virus during pregnancy, is associated with CZS occurrence (odds ratio [OR], 2.
View Article and Find Full Text PDFThe integration of floating a PV plant (FPV) with a Hydroelectric Power plant (HPP) is studied and it is shown that several advantages come from this hybridization. The FPV power potential is analysed for the first 20 largest HPPs in the world and it is shown that when covering 10% of the HPP basin surfaces the HPP energy production is increased by 65%. The experience of China Longyangxa basin and of its connected PV power plant is examined together with the suggestion to install a FPV whose rated power is equal to HPP rated power.
View Article and Find Full Text PDFLeprosy is a chronic disease caused by infection that can cause severe neurological complications and physical disabilities. A leprosy-specific vaccine would be an important component within control programs but is still lacking. Given that multifunctional CD4 T cells [i.
View Article and Find Full Text PDFIt is well established that helper T cell responses influence resistance or susceptibility to Mycobacterium leprae infection, but the role of more recently described helper T cell subsets in determining severity is less clear. To investigate the involvement of Th17 cells in the pathogenesis of leprosy, we determined the immune profile with variant presentations of leprosy. Firstly, IL-17A, IFN-γ and IL-10 were evaluated in conjunction with CD4 T cell staining by confocal microscopy of lesion biopsies from tuberculoid (TT) and lepromatous leprosy (LL) patients.
View Article and Find Full Text PDFBackground: CD163, receptor for the haptoglobin-hemoglobin complex, is expressed on monocytes/macrophages and neutrophils. A soluble form of CD163 (sCD163) has been associated with the M2 macrophage phenotype, and M2 macrophages have been shown to down-modulate inflammatory responses. In particular, previous studies have shown that M2 is closely associated with the most severe clinical presentation of leprosy (i.
View Article and Find Full Text PDFLeprosy is a chronic infectious disease caused by Mycobacterium leprae. According to official reports from 121 countries across five WHO regions, there were 213 899 newly diagnosed cases in 2014. Although leprosy affects the skin and peripheral nerves, it can present across a spectrum of clinical and histopathological forms that are strongly influenced by the immune response of the infected individuals.
View Article and Find Full Text PDFRev Inst Med Trop Sao Paulo
September 2016
Cryptococcosis is a leading invasive fungal infection in immunocompromised patients. Considering the high prevalence and severity of these infections in immunocompromised patients attended at HC-FMRP-USP, the present research aimed to characterize the clinical isolates of Cryptococcus strains by biochemical and molecular methods and evaluate antifungal susceptibility of clinical isolates. Fifty isolates from 32 HIV-positive patients were obtained at HC-FMRP-USP.
View Article and Find Full Text PDFOssifying fibromyxoid tumor of soft tissues (OFMT) is considered a rare mesenchymal neoplasm. Its main histological features are sheets and ill-defined lobules of rounded bland cells within a fibromyxoid background and a thick collagenous capsule with an incomplete rim of lamellar bone. This lesion occurs mostly in the soft tissues of the lower extremities and limb girdles.
View Article and Find Full Text PDFBackground: Cutaneous mycoses are common human infections among healthy and immunocompromised hosts, and the anthropophilic fungus Trichophyton rubrum is the most prevalent microorganism isolated from such clinical cases worldwide. The aim of this study was to determine the transcriptional profile of T. rubrum exposed to various stimuli in order to obtain insights into the responses of this pathogen to different environmental challenges.
View Article and Find Full Text PDFTrichophyton rubrum is a dermatophyte that infects human skin and nails. Its growth on keratin as its carbon source shifts the ambient pH from acidic to alkaline, which may be an efficient strategy for its successful infection and maintenance in the host. In this study, we used suppression subtractive hybridization to identify genes preferentially expressed in T.
View Article and Find Full Text PDFThis study investigated the predictive value of the early progression rate of Alzheimer's disease on that of the later stages. We retrospectively evaluated 91 patients affected by possible Alzheimer's disease; the patients had been examined twice with the Milan overall dementia assessment (MODA) scale at an interval of 12 months (53 patients) or 24 months (38 patients). At the first assessment, speed of progression was calculated for each patient dividing the MODA difference from the normality threshold by the time elapsed from the cognitive decline onset.
View Article and Find Full Text PDFThe aim of the present study was to provide a statistically sound way of reciprocally converting scores of the mini-mental state examination (MMSE) and the Milan overall dementia assessment (MODA). A consecutive series of 182 patients with "probable" Alzheimer's disease patients was examined with both tests. MODA and MMSE scores proved to be highly correlated.
View Article and Find Full Text PDFOf the therapeutic aids currently available for the treatment of liver metastases, surgical treatment, when possible, has acquired an irreplaceable role. The exact criteria needed to establish a correct indication still have to be established. Various factors have been examined so far: number, site, dimensions of the metastases and features of the primary tumour whose prognostic importance does not lend itself to unequivocable interpretation.
View Article and Find Full Text PDFThirteen cases of acute IIIrd degree pancreatitis and 5 homogeneous cases of IInd degree, treated surgically during the first 48 hours from onset of the symptomatology, are described. The importance of careful cardiorespiratory, haemodynamic and metabolic monitoring to establish the most appropriate moment for intervention after a period of intensive therapy designed to restore the basic parameters is stressed. In the present series, total mortality was 44%.
View Article and Find Full Text PDFOccupational psoriasis accounts for about 1.2% of all cutaneous pathologic conditions due to work. It is especially important for subjects with slight signs of psoriasis, since patients already suffering from clear illness spontaneously avoid traumatic activities.
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