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Garcia-Doval I.,Complexo Hospitalario de Pontevedra CHOP | Cabo F.,Complexo Hospitalario de Ourense CHOU | Monteagudo B.,Hospital Arquitecto Marcide Novoa Santos | Alvarez J.,Complexo Hospitalario de Ourense CHOU | And 12 more authors.
British Journal of Dermatology | Year: 2010

SummaryBackground Suspected toenail onychomycosis is a frequent problem. Clinical diagnosis has been considered inadequate. Objectives To assess the diagnostic accuracy of clinical findings for detecting fungi in toenails, and to develop and validate a clinical diagnostic rule aimed at improving dermatologists' diagnosis of onychomycosis. Methods A cross-sectional diagnostic study was performed including a total of 277 patients seen by 12 dermatologists. The gold standard was the presence of dermatophytes on culture or a positive nail plate biopsy. For each sign we described prevalence, sensitivity, specificity, positive and negative predictive values, and likelihood ratios for positive and negative results. We developed a diagnostic clinical rule and validated it in a subsample. Results Helpful findings to predict the presence of fungi are: previous diagnosis of fungal disease; abnormal plantar desquamation (affecting > 25% of the sole); onychomycosis considered the most probable diagnosis by a dermatologist; and presence of interdigital tinea. When dermatologists considered onychomycosis the most probable diagnosis and plantar desquamation was present (13% of patients), the positive predictive value for presence of fungi was 81%. When both signs were absent (34% of patients), the positive predictive value for absence of fungi was 71%. In other situations, clinical diagnosis might not give enough information to decide on therapy. Conclusions In 13% of the patients (a large number in absolute terms), when dermatologists consider onychomycosis the most probable diagnosis and plantar desquamation is present, therapy should be started without any further test, as clinical diagnosis is at least as accurate as laboratory tests. In other situations, an optimal management strategy should be defined. © 2010 British Association of Dermatologists.

Nunez L.,University of La Coruna | Gimeno-Blanes J.R.,Hospital Universitario Virgen Of La Arrixaca | Rodriguez-Garcia M.I.,University of La Coruna | Monserrat L.,University of La Coruna | And 6 more authors.
Circulation Journal | Year: 2013

Background: Hypertrophic cardiomyopathy (HCM) is a clinically heterogeneous genetic heart disease characterized by left ventricular hypertrophy in the absence of another disease that could explain the wall thickening. Elucidation of the genetic basis of HCM lead to the identification of several genes encoding sarcomeric proteins, such as MYH7, MYBPC3, TPM1, TNNT2, and TNNI3. Sarcomeric genes are mutated in approximately 40% of HCM patients and a possible explanation for the incomplete yield of mutation-positive HCM may be somatic mutations.Methods and Results: We studied 104 unrelated patients with non-familial HCM. Patients underwent clinical evaluation and mutation screening of 5 genes implicated in HCM (MYH7, MYBPC3, TPM1, TNNT2, and TNNI3) in genomic DNA isolated from resected cardiac tissue; 41 of 104 were found to carry a mutation, but as several patients carried the same mutations, the total amount of different mutations was 37; 20 of these mutations have been previously described, and pathogenicity has been assessed. To determine the effect of the 17 new mutations an in silico assay was performed and it predicted that 4 variants were damaging mutations. All identified variants were also seen in the DNA isolated from the corresponding blood, which demonstrated the absence of somatic mutations. Conclusions: Somatic mutations in MYH7, MYBPC3, TPM1, TNNT2, and TNNI3 do not represent an important etiologic pathway in HCM.

Soto-Hermida A.,University of La Coruna | Fernandez-Moreno M.,University of La Coruna | Pertega-Diaz S.,University of La Coruna | Pertega-Diaz S.,Complexo Hospitalario Universitario Of runa Chuac | And 5 more authors.
Rheumatology International | Year: 2014

Not all patients with osteoarthritis (OA) show the same disease progression, as some of them remain relatively stable over time, while others progress to severe structural deterioration of the joint. In this sense, the main goal of both genetic and protein biomarkers in OA is to predict not only the risk of OA at an earlier stage of the disease but also which OA patients are more likely to progress to severe disease. Taking into account the incidence of the mitochondria and the mtDNA haplogroups in the pathogenesis of OA, the main objective of this work was to evaluate the incidence of the mtDNA haplogroups in the radiographic progression of the OA disease in a well-characterized follow-up cohort of Spanish patients. DNA from 281 OA patients from Hospital Universitario A Coruña was isolated to determine the European mtDNA haplogroups. Knee or hip radiographs from all affected joints were obtained at two time points with at least 36 months apart. Radiographs were evaluated using the Kellgren/Lawrence (K/L) scale; radiographic OA progression was defined as any radiographic worsening of the K/L joint score. Statistical analyses included Kaplan–Meier survival curves and Cox regression models. Patients belonging to the cluster TJ showed a slower radiographic OA progression than patients in the cluster KU (p = 0.036). Moreover, patients carrying the most common mtDNA haplogroup H are more apt to require total joint replacement surgery than non-H patients (p = 0.049). The inherited mitochondrial variants influence the radiographic progression of OA and could be considered among the genetic variants taken into account when the radiographic progression of OA is analyzed. © 2014, Springer-Verlag Berlin Heidelberg.

Sangiao-Alvarellos S.,University of La Coruna | Sangiao-Alvarellos S.,Institute Investigacion Biomedica Of A Coruna | Pena-Bello L.,University of La Coruna | Pena-Bello L.,Institute Investigacion Biomedica Of A Coruna | And 6 more authors.
Endocrinology | Year: 2014

The hypothalamus plays a crucial role in body weight homeostasis through an intricate network of neuronal circuits that are under the precise regulation of peripheral hormones and central transmitters. Although deregulated function of such circuits might be a major contributing factor in obesity, the molecular mechanisms responsible for the hypothalamic control of energy balance remain partially unknown. MicroRNAs (miRNAs) have been recognized as key regulators of different biological processes, including insulin sensitivity and glucose metabolism. However, the roles of miRNA pathways in the control of metabolism have been mostly addressed in peripheral tissues, whereas the potential deregulation ofmiRNAexpression in the hypothalamus in conditions of metabolic distress remains as yet unexplored. In this work, we used high-throughput screening to define to what extent the hypothalamic profiles of miRNA expression are perturbed in two extreme conditions of nutritional stress in male rats, namely chronic caloric restriction and high-fat diet-induced obesity. Our analyses allowed the identification of sets of miRNAs, including let-7a, mir-9, mir-30e, mir-132, mir-145, mir-200a, and mir-218, whose expression patterns in the hypothalamus were jointly altered by caloric restriction and/or a high-fat diet. The predicted targets of these miRNAs include several elements of key inflammatory and metabolic pathways, including insulin and leptin. Our study is the first to disclose the impact of nutritional challenges on the hypothalamicmiRNAexpression profiles. These data will help to characterize the molecularmiRNA signature of the hypothalamus in extreme metabolic conditions and pave the way for targeted mechanistic analyses of the involvement of deregulated central miRNAs pathways in the pathogenesis of obesity and related disorders. © 2014 by the Endocrine Society.

Ribeiro M.,Complexo Hospitalario Universitario Of runa Chuac | Ribeiro M.,University of Coimbra | Lopez de Figueroa P.,Complexo Hospitalario Universitario Of runa Chuac | Nogueira-Recalde U.,Complexo Hospitalario Universitario Of runa Chuac | And 3 more authors.
Osteoarthritis and Cartilage | Year: 2016

Objective: Type 2 Diabetes (T2D) is a risk factor for osteoarthritis (OA). Autophagy, an essential homeostasis mechanism in articular cartilage, is defective in T2D and OA. However, how T2D may influence OA progression is still unknown. We aimed to determine how diabetes affects cartilage integrity and whether pharmacological activation of autophagy has efficacy in diabetic mice (db/db mice) with OA. Design: Experimental OA was performed in the right knee of 9 weeks-old C57Bl/6J male mice (Lean group, . N = 8) and of 9 weeks-old B6.BKS (D)-Leprdb male mice (db/db group, . N = 16) by transection of medial meniscotibial and medial collateral ligaments. Left knee was employed as control knee. Rapamycin (2 mg/kg weight/day) or Vehicle (dimethyl sulfoxide) were administered intraperitoneally three times a week for 10 weeks. Histopathology of articular cartilage and synovium was evaluated by using semiquantitative scoring and synovitis grading systems, respectively. Immunohistochemistry was employed to evaluate the effect of diabetes and Rapamycin on cartilage integrity and OA biomarkers. Results: Cartilage damage was increased in db/db mice compared to Lean mice after experimental OA, while no differences are observed in the control knee. Cartilage damage and synovium inflammation were reduced by Rapamycin treatment of OA-db/db mice. This protection was accompanied with a decrease in MMP-13 expression and decreased interleukin 12 (IL-12) levels. Furthermore, autophagy was increased and cartilage cellularity was maintained, suggesting that mammalian target of rapamycin (mTOR) targeting prevents joint physical harm. Conclusion: Our findings indicate that diabetic mice exhibit increased joint damage after experimental OA, and that autophagy activation might be an effective therapy for diabetes-accelerated OA. © 2016 Osteoarthritis Research Society International.

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