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1.
J Eur Acad Dermatol Venereol ; 38(7): 1251-1280, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38456584

RESUMEN

The term 'sclerosing diseases of the skin' comprises specific dermatological entities, which have fibrotic changes of the skin in common. These diseases mostly manifest in different clinical subtypes according to cutaneous and extracutaneous involvement and can sometimes be difficult to distinguish from each other. The present consensus provides an update to the 2017 European Dermatology Forum Guidelines, focusing on characteristic clinical and histopathological features, diagnostic scores and the serum autoantibodies most useful for differential diagnosis. In addition, updated strategies for the first- and advanced-line therapy of sclerosing skin diseases are addressed in detail. Part 1 of this consensus provides clinicians with an overview of the diagnosis and treatment of localized scleroderma (morphea), and systemic sclerosis including overlap syndromes.


Asunto(s)
Consenso , Esclerodermia Localizada , Esclerodermia Sistémica , Humanos , Esclerodermia Sistémica/diagnóstico , Esclerodermia Sistémica/terapia , Esclerodermia Localizada/diagnóstico , Esclerodermia Localizada/terapia , Diagnóstico Diferencial
2.
J Eur Acad Dermatol Venereol ; 38(4): 687-694, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38169088

RESUMEN

Alopecia areata is an autoimmune form of non-scarring hair loss. It is usually characterized by limited areas of hair loss. However, the disease may progress to complete scalp and body hair loss (alopecia totalis, alopecia universalis). In patients with alopecia areata hair loss significantly impacts the quality of life. Children and adolescents with alopecia areata often experience bullying, including physical aggression. The disease severity evaluation tools used in clinical practice are: the Severity of Alopecia Tool (SALT) score and the Alopecia Areata Scale (AAS). A SALT score equal to or greater than 20 constitutes a commonly accepted indication for systemic therapy in alopecia areata. When using the AAS, moderate to severe alopecia areata should be considered a medical indication for systemic treatment. Currently, the only two EMA-approved medications for alopecia areata are baricitinib (JAK 1/2 inhibitor) for adults and ritlecitinib (JAK 3/TEC inhibitor) for individuals aged 12 and older. Both are EMA-approved for patients with severe alopecia areata. Other systemic medications used off-label in alopecia areata include glucocorticosteroids, cyclosporine, methotrexate and azathioprine. Oral minoxidil is considered an adjuvant therapy with limited data confirming its possible efficacy. This consensus statement is to outline a systemic treatment algorithm for alopecia areata, indications for systemic treatment, available therapeutic options, their efficacy and safety, as well as the duration of the therapy.


Asunto(s)
Alopecia Areata , Inhibidores de las Cinasas Janus , Adulto , Adolescente , Niño , Humanos , Alopecia Areata/tratamiento farmacológico , Calidad de Vida , Alopecia/tratamiento farmacológico , Minoxidil/uso terapéutico , Azatioprina/uso terapéutico , Inhibidores de las Cinasas Janus/uso terapéutico
3.
J Assist Reprod Genet ; 39(9): 2103-2114, 2022 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-35849255

RESUMEN

PURPOSE: To identify clinically significant genomic copy number (CNV) and single nucleotide variants (SNV) in males with unexplained spermatogenic failure (SPGF). MATERIALS AND METHODS: Peripheral blood DNA from 97/102 study participants diagnosed with oligozoospermia, severe oligozoospermia, or non-obstructive azoospermia (NOA) was analyzed for CNVs via array comparative genomic hybridization (aCGH) and SNVs using whole-exome sequencing (WES). RESULTS: Of the 2544 CNVs identified in individuals with SPGF, > 90% were small, ranging from 0.6 to 75 kb. Thirty, clinically relevant genomic aberrations, were detected in 28 patients (~ 29%). These included likely diagnostic CNVs in 3/41 NOA patients (~ 7%): 1 hemizygous, intragenic TEX11 deletion, 1 hemizygous DDX53 full gene deletion, and 1 homozygous, intragenic STK11 deletion. High-level mosaicism for X chromosome disomy (~ 10% 46,XY and ~ 90% 47,XXY) was also identified in 3 of 41 NOA patients who previously tested normal with conventional karyotyping. The remaining 24 CNVs detected were heterozygous, autosomal recessive carrier variants. Follow-up WES analysis confirmed 8 of 27 (30%) CNVs (X chromosome disomy excluded). WES analysis additionally identified 13 significant SNVs and/or indels in 9 patients (~ 9%) including X-linked AR, KAL1, and NR0B1 variants. CONCLUSION: Using a combined genome-wide aCGH/WES approach, we identified pathogenic and likely pathogenic SNVs and CNVs in 15 patients (15%) with unexplained SPGF. This value equals the detection rate of conventional testing for aneuploidies and is considerably higher than the prevalence of Y chromosome microdeletions. Our results underscore the importance of comprehensive genomic analysis in emerging diagnostic testing of complex conditions like male infertility.


Asunto(s)
Variaciones en el Número de Copia de ADN , Oligospermia , Azoospermia , Hibridación Genómica Comparativa , Variaciones en el Número de Copia de ADN/genética , Pruebas Genéticas/métodos , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Masculino , Nucleótidos , Oligospermia/diagnóstico , Oligospermia/genética
4.
J Eur Acad Dermatol Venereol ; 35(6): 1299-1308, 2021 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-33630354

RESUMEN

Alopecia areata is the third most common cause of dermatology consultations in children but the treatment of paediatric alopecia areata remains challenging. A systematic review of the literature about the treatment of alopecia areata in children (≤18 years old) was performed on 11 May 2020 by searching the PubMed, Scopus and EBSCO databases. The terms used for the search were: 'alopecia areata', 'alopecia totalis' or 'alopecia universalis' combined with 'paediatric', 'children' or 'childhood'. A total of 89 articles were included in final evaluation. The most commonly assessed treatment options in paediatric alopecia areata were topical immunotherapy (response rate in monotherapy: 54%; 187/345) intralesional glucocorticosteroids (75%; 211/280), systemic glucocorticosteroids (73%; 102/140), and anthralin (42%; 31/74). Topical glucocorticosteroids (81%; 35/43), systemic Janus kinase (JAK) inhibitors (90%; 27/30), topical calcineurin inhibitors (42%; 8/19), topical JAK inhibitors (65%; 11/17), PUVA therapy (56%; 9/16) and 308-nm excimer laser (77%; 10/13) were also evaluated. Additionally, evaluation in smaller numbers of paediatric patients included methotrexate (100%; 10/10), topical minoxidil (44%; 4/9) and cyclosporine (83%; 5/6). There were limited data considering children with alopecia areata treated with azathioprine, hydroxychloroquine, topical sildenafil, topical prostaglandin analogues, fractional carbon dioxide laser, leflunomide, mesalazine, apremilast, dupilumab, ustekinumab, efalizumab, botulinum toxin, and compound glycyrrhizin. On the basis of the limited data available glucocorticosteroids (systemic, intralesional or topical) and JAK inhibitors (systemic or topical) may be considered the best documented and most effective treatment options in alopecia areata in children. There are no sufficient paediatric data to compare treatment safety and relapse rates in these therapeutic modalities.


Asunto(s)
Alopecia Areata , Inhibidores de las Cinasas Janus , Adolescente , Alopecia , Alopecia Areata/tratamiento farmacológico , Niño , Humanos , Leflunamida , Minoxidil , Resultado del Tratamiento
5.
J Eur Acad Dermatol Venereol ; 33(10): 1907-1912, 2019 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-31120609

RESUMEN

BACKGROUND: Gut dysbiosis and increased intestinal permeability play a significant role in the pathogenesis of psoriasis and its comorbidities. Claudin-3 is a key component of tight junctions, which may serve as marker of gut barrier integrity. OBJECTIVES: The aim of the study was to investigate circulating plasma claudin-3 in patients with psoriasis and to evaluate clinical and metabolic factors, which determine its concentration. METHODS: This cross-sectional study included 60 patients with psoriasis (39 men and 21 women, mean age: 45.6 ± 12.1 years) and 30 healthy controls (18 men and 12 women, mean age: 46.3 ± 15.5 years) age, sex and body mass index-matched. Plasma claudin-3 concentration was measured using an enzyme-linked immunosorbent assay. RESULTS: Plasma claudin-3 concentration was significantly higher in patients with psoriasis in comparison with healthy control [median (interquartile range), 50.7 ng/mL (47.3-54.2) vs. 43.3 ng/mL (42.3-44.2), P < 0.001]. Patients who achieved ΔPASI90 response after 16 weeks of treatment showed tendency to decrease in circulating claudin-3 plasma concentration. Positive correlations between claudin-3 concentration and the PASI score (r = 0.828; P < 0.001) as well as claudin-3 and neutrophil-to-lymphocyte ratio (r = 0.847; P < 0.001) were found. A multivariable linear regression analysis confirmed association of claudin-3 with the PASI score (P < 0.001), neutrophil-to-lymphocyte ratio (P < 0.01) and active smoking (P < 0.05). CONCLUSION: Claudin-3, a biomarker for gut permeability, is increased in psoriasis and correlates with disease severity and smoking. Further investigations are needed to determine whether reinforcing intestinal barrier may be a new therapeutic target in psoriasis.


Asunto(s)
Claudina-3/sangre , Mucosa Intestinal/metabolismo , Neutrófilos , Psoriasis/sangre , Adulto , Biomarcadores/sangre , Estudios Transversales , Femenino , Humanos , Recuento de Linfocitos , Masculino , Persona de Mediana Edad , Permeabilidad , Índice de Severidad de la Enfermedad
6.
J Appl Microbiol ; 126(4): 1070-1080, 2019 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-30664312

RESUMEN

AIMS: The assessment of the bacterial viability of chlorine- and quaternary ammonium compounds (QACs)-treated Lactobacillus cells by culture-dependent and -independent methods. METHODS AND RESULTS: Lactobacillus isolates (Lactobacillus plantarum G1, Lactobacillus plantarum B1, Lactobacillus brevis S1 and Lactobacillus paracasei W1) in biofilm and planktonic cell suspensions were treated with chlorine-based (0·018 and 0·18%) and QACs-based (0·2 and 2·0%) disinfectants for 5 min and then analysed by plate counting, flow cytometry (FCM) and fluorescence activated cell sorting (FACS). The reaction of sessile cells to disinfectants was assessed with the confocal laser scanning microscopy (CLSM). Plate counts revealed L. paracasei W1 to be substantially inactivated by both disinfectants, while counts of the other isolates to be significantly reduced only by QACs, with L. plantarum B1 and L. brevis S1 showing a greater difference between QACs concentrations and cell types. In several cases, the disinfectants caused slightly higher inactivation of planktonic than biofilm cells, with L. plantarum B1 being significantly less sensitive to QACs in biofilm cells (P < 0·05). Following FCM with a Syto® 9/PI assay, which addresses cell membrane integrity, the emergence of damaged (Syto® 9- PI+ ) and injured (Syto® 9+ PI+ ) subpopulations was often observed in cells when they were treated with QACs, whereas intact (Syto® 9+ PI- ) and unstained (Syto® 9- PI- ) subpopulations were mostly encountered in chlorine-treated cells. Except Syto® 9- PI+ , all subpopulations were recovered on agar plates following FACS, with biofilm cells showing higher culturability irrespective of conditions, probably because of the residues of the biofilm matrix which serve as a protective cover for the bacteria. The CLSM revealed a substantial cell membrane damage within the QACs-treated biofilms, however, some cells deep in the biofilm were still intact and thus remained protected against this disinfectant. CONCLUSION: We found that FCM/FACS proved useful in the analysis of lactobacilli membrane integrity in disinfection experiments as well as in recovery evaluation of planktonic-biofilm cell subpopulations. In turn, CLSM was particularly useful in investigating the resistance mechanism when Lactobacillus cells were embedded in biofilms. SIGNIFICANCE AND IMPACT OF THE STUDY: This study highlights the need for treatment optimization on a case-by-case basis to avoid the emergence of cells in intermediate states with recovery potential and to reach and, thus, kill all bacteria in already developed lactobacilli biofilms.


Asunto(s)
Cloro/farmacología , Desinfectantes/farmacología , Lactobacillus/efectos de los fármacos , Viabilidad Microbiana/efectos de los fármacos , Compuestos de Amonio Cuaternario/farmacología , Biopelículas/efectos de los fármacos , Biopelículas/crecimiento & desarrollo , Membrana Celular/efectos de los fármacos , Recuento de Colonia Microbiana , Citometría de Flujo , Lactobacillus/crecimiento & desarrollo , Lactobacillus/aislamiento & purificación , Microscopía Confocal
7.
J Physiol Pharmacol ; 70(6)2019 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-32084647

RESUMEN

The aim of the research was to assess the effect of nesfatin-1 on the structure, flexibility parameters, and expression of adropin, nesfatin-1, and angiotensin II receptor type 1 (AT1R) in the abdominal aorta in ovariectomized rats. Fragments of aortas were collected after euthanasia of female sham-operated (CONT) and ovariectomized Wistar rats (EXP), which were administered intraperitoneal injection of physiological saline (CONT, n = 7; EXP-O, n = 7) or nesfatin-1 (EXP-N, n = 7) in an amount of 2 µg/kg b.w. once a day for 8 weeks. The samples of aortas were collected for measurement of elasticity as well as histomorphometric, immunohistochemical, FTIR, and Raman spectroscopy analysis. The ovariectomy caused a significant increase in the thickness of the total wall and its particular layers in the aorta, in comparison to the CONT and EXP-N groups. However, the ovariectomy led to a decrease in the amount of elastin, collagen (mature, immature collagen, collagen maturity ratio 1660 - 1690 cm-1), and amides, with a simultaneous increase in lipids, especially in the tunica intima-media of the abdominal aorta compared to the other groups. The use of nesfatin-1 significantly increased the amount of collagen, elastin and amides with a simultaneous decrease in the amount of lipids and the expression of AT1R, adropin and nesfatin-1 in the abdominal aorta of ovariectomized rats. In conclusion, our study showed that the ovariectomy surgery induced changes in the abdominal aorta wall characteristic for aging females. Application of nesfatin-1 may prevent the negative consequences in the vessel wall structure in females in conditions of estrogen deficiency and prevent atherosclerotic changes in the cardiovascular system.


Asunto(s)
Aorta Abdominal/patología , Proteínas Sanguíneas/genética , Nucleobindinas/genética , Péptidos/genética , Receptores de Angiotensina/genética , Envejecimiento/fisiología , Animales , Colágeno/metabolismo , Elastina/metabolismo , Femenino , Nucleobindinas/administración & dosificación , Ovariectomía , Ratas , Ratas Wistar
8.
J Eur Acad Dermatol Venereol ; 33(1): 213-219, 2019 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-30290016

RESUMEN

INTRODUCTION: Alopecia areata and frontal fibrosing alopecia are common causes of eyebrow loss (madarosis). OBJECTIVE: Assessment of trichoscopic markers of eyebrow loss in alopecia areata and frontal fibrosing alopecia. MATERIALS AND METHODS: The analysis included 50 patients with scalp alopecia areata with madarosis, 50 patients with scalp frontal fibrosing alopecia with madarosis and 50 healthy controls. In every case, trichoscopy of the eyebrow area was performed. RESULTS: Empty follicular and eccrine duct openings were observed in all patients and presented predominantly as yellow dots. Exclamation mark hairs were only detected in patients with alopecia areata (30%). Tapered hairs, broken hair, black dots and Pohl-Pinkus constrictions were observed in 14%, 36%, 26% and 4% of patients with alopecia areata, respectively, 4%, 16%, 2% and 0% of patients with frontal fibrosing alopecia, respectively, and they were not present in healthy controls. Dystrophic hairs and whitish areas were observed only in patients with frontal fibrosing alopecia (28% and 32%, respectively). Eyebrow regrowth in distinct directions was present in 32% of patients with frontal fibrosing alopecia, 8% of patients with alopecia areata and 4% of healthy controls. Diffuse erythema was detected in 60% of patients with alopecia areata and frontal fibrosing alopecia and 56% of healthy controls. Vellus hairs and upright regrowing hairs were observed in patients with alopecia areata (62% and 58%, respectively), frontal fibrosing alopecia (60% and 84%, respectively) and healthy controls (100% and 100%, respectively). CONCLUSION: Trichoscopy of the eyebrow area is useful in diagnosing patients with isolated eyebrow loss. The most characteristic trichoscopic features of eyebrow loss in alopecia areata include exclamation mark hairs, tapered hairs, broken hairs and black dots. Frontal fibrosing alopecia of the eyebrows is characterized by the presence of dystrophic hairs, white areas and eyebrow regrowth in distinct directions.


Asunto(s)
Alopecia Areata/diagnóstico por imagen , Dermoscopía , Glándulas Ecrinas/diagnóstico por imagen , Cejas/diagnóstico por imagen , Folículo Piloso/diagnóstico por imagen , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Alopecia Areata/complicaciones , Estudios de Casos y Controles , Niño , Preescolar , Glándulas Ecrinas/patología , Eritema/complicaciones , Cejas/crecimiento & desarrollo , Cejas/patología , Femenino , Fibrosis , Folículo Piloso/patología , Humanos , Masculino , Persona de Mediana Edad , Adulto Joven
9.
Clin Exp Dermatol ; 44(4): e73-e80, 2019 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-30251415

RESUMEN

BACKGROUND: Pemphigus-associated alopecia is considered rare, and has not been studied in detail. AIM: To evaluate the clinical and immunological characteristics of patients with pemphigus-associated alopecia. METHODS: This prospective observational study included 80 consecutive patients with histopathologically and immunopathologically confirmed pemphigus, of whom 11 (13.8%) were found to have pemphigus-associated alopecia. Alopecia was observed in 11/52 patients with pemphigus and scalp involvement: [0/28 (35.7%) with pemphigus vulgaris and 1/24 (4.2%) with pemphigus foliaceus. The clinical and immunological characteristics of these patients were analysed. RESULTS: Patients with pemphigus-associated alopecia had a significantly higher Pemphigus Disease Area Index total activity score compared with patients who had no pemphigus-associated alopecia (21.8 ± 18.6 and 11.0 ± 20.5, respectively; P = 0.02). Mean serum anti-desmoglein (Dsg)1 antibody concentration was 141.8 ± 66.9 U/mL and 60.0 ± 52.6 U/mL, respectively (P = 0.03), and mean serum anti-Dsg3 concentration was 126.6 ± 36.7 U/mL and 67.4 ± 52.5 U/mL, respectively (P = 0.03). The values for achieving serological remission were 10% and 70%, respectively (P = 0.02). CONCLUSIONS: Pemphigus-associated alopecia is a marker of severe disease and a treatment-resistant disease course.


Asunto(s)
Alopecia/inmunología , Desmogleína 1/inmunología , Pénfigo/inmunología , Anciano , Alopecia/etiología , Alopecia/patología , Biomarcadores/metabolismo , Desmogleína 3/inmunología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Pénfigo/complicaciones , Pénfigo/epidemiología , Pénfigo/patología , Prevalencia , Estudios Prospectivos , Factores de Riesgo , Índice de Severidad de la Enfermedad
10.
J Physiol Pharmacol ; 69(3)2018 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-30149371

RESUMEN

Reduced sperm motility, defined as asthenozoospermia, is a frequent cause of male infertility, and is mainly connected with the dysfunction of sperm mitochondria. The aim of this study was to identify the proteins, and thereby the metabolic pathways, responsible for asthenozoospermia, using 2-DE and MALDI-TOF MS, and correlate the results obtained with those of two mitochondrial tests: JC-1 and MitoSox Red. The JC-1 test was performed to test sperm mitochondrial activity, and the MitoSox Red test was performed to check whether the observed sperm poor motility is associated with mitochondrial reactive oxygen species (ROS) production. To identify proteins strictly connected with reduced sperm motility, men with isolated asthenozoospermia (n = 4 versus 10 normozoospermic controls) alone were included in the study. The proteomic analyses resulted in the identification of 25 sperm proteins that are differentially expressed in asthenozoospermic individuals. Most of the identified proteins were downregulated and were involved in energy production; however, we have also identified structural sperm proteins and proteins secreted by the epididymis. The latter, together with the results from MitoSox Red assay, may provide insights into the pathophysiological basis of asthenozoospermia.


Asunto(s)
Astenozoospermia/metabolismo , Mitocondrias/metabolismo , Estrés Oxidativo , Espermatozoides/metabolismo , Adulto , Humanos , Masculino , Proteómica , Adulto Joven
11.
J Physiol Pharmacol ; 69(1): 109-116, 2018 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-29769427

RESUMEN

The aim of the research was to examine the influence of orchidectomy on the elasticity and wall structure of the abdominal aorta in male rats and to check whether camelina oil treatment has an effect on aorta wall characteristics in orchidectomized rats. Forty 2-month-old male Wistar rats were used in the experiment: 10 animals underwent a sham testis repositioning operation (SHO) and 30 rats were orchidectomized (ORX). After the convalescence period, the SHO and ORX1 rats were given physiological saline intragastrically for 8 weeks; simultaneously, the other rats received camelina oil at the dose of 5 g/kg/b.w. (ORX2) or 9 g/kg/b.w. (ORX3) once a day. At the end of experiment, the animals were euthanized and fragments of the aorta were sampled for elasticity measurement and for histomorphometric and immunohistochemistry analysis. Orchidectomy caused a significant increase in the thickness of the total wall and its particular layers, mean intensity of elastin fluorescence in the tunica intima-media, and the volume of collagen I in tunica adventitia of the abdominal aorta in comparison to the other groups. The mean intensity of collagen I fluorescence in the tunica adventitia and tunica intima-media was significantly lower in the aorta of the orchidectomized rats. The values of the histomorphometric parameters of animals receiving camelina oil were lower than in the ORX1 group and higher than in the SHO rats. The values of the other parameters analyzed after the camelina oil treatment were similar to those in the SHO rats. In conclusion, our study showed that orchidectomy induced changes in the abdominal aorta wall characteristic for aging. Supplementation with camelina oil prevents negative consequences in the vessel wall structure in males with impaired endocrine function.


Asunto(s)
Aorta Abdominal/efectos de los fármacos , Brassicaceae , Orquiectomía , Aceites de Plantas/farmacología , Animales , Aorta Abdominal/patología , Elasticidad/efectos de los fármacos , Ácidos Grasos/análisis , Ácidos Grasos/farmacología , Masculino , Aceites de Plantas/análisis , Ratas Wistar
12.
Clin Exp Dermatol ; 43(2): 168-170, 2018 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-28994133

RESUMEN

The scalp is a common location for pemphigus vulgaris (PV), and scalp lesions may be resistant to standard treatment. Perilesional/intralesional triamcinolone acetonide (TA) injections have been used successfully to treat oropharyngeal and ocular involvement in PV. Data on the efficacy of perilesional and intralesional triamcinolone acetonide injections in scalp lesions in PV are lacking. We report two patients with immunopathologically and histopathologically confirmed PV and residual scalp lesions resistant to standard treatment, who were treated with perilesional and intralesional injections of TA 10 mg/mL. Clearance of scalp lesions was achieved after one after, respectively, one and two perilesional and intralesional injections. Perilesional and intralesional TA injections may serve as an effective and safe treatment for recalcitrant scalp lesions in pemphigus.


Asunto(s)
Pénfigo/tratamiento farmacológico , Dermatosis del Cuero Cabelludo/tratamiento farmacológico , Triamcinolona Acetonida/administración & dosificación , Adulto , Femenino , Humanos , Inyecciones Intradérmicas , Inyecciones Intralesiones , Masculino , Persona de Mediana Edad , Pénfigo/patología , Dermatosis del Cuero Cabelludo/patología
13.
J Physiol Sci ; 68(3): 293-305, 2018 May.
Artículo en Inglés | MEDLINE | ID: mdl-28432611

RESUMEN

This study aimed at evaluating the concentration of erythrocyte purine nucleotides (ATP, ADP, AMP, IMP) in trained and sedentary subjects before and after maximal physical exercise together with measuring the activity of purine metabolism enzymes as well as the concentration of purine (hypoxanthine, xanthine, uric acid) and pyrimidine (uridine) degradation products in blood. The study included 15 male elite rowers [mean age 24.3 ± 2.56 years; maximal oxygen uptake (VO2max) 52.8 ± 4.54 mL/kg/min; endurance and strength training 8.2 ± 0.33 h per week for 6.4 ± 2.52 years] and 15 sedentary control subjects (mean age 23.1 ± 3.41 years; VO2max 43.2 ± 5.20 mL/kg/min). Progressive incremental exercise testing until refusal to continue exercising was conducted on a bicycle ergometer. The concentrations of ATP, ADP, AMP, IMP and the activities of adenine phosphoribosyltransferase (APRT), hypoxanthine-guanine phosphoribosyltransferase (HGPRT) and phosphoribosyl pyrophosphate synthetase (PRPP-S) were determined in erythrocytes. The concentrations of hypoxanthine, xanthine, uric acid and uridine were determined in the whole blood before exercise, after exercise, and 30 min after exercise testing. The study demonstrated a significantly higher concentration of ATP in the erythrocytes of trained subjects which, in part, may be explained by higher metabolic activity on the purine re-synthesis pathway (significantly higher PRPP-S, APRT and HGPRT activities). The ATP concentration, just as the ATP/ADP ratio, as well as an exercise-induced increase in this ratio, correlates with the VO2max level in these subjects which allows them to be considered as the important factors characterising physical capacity and exercise tolerance. Maximal physical exercise in the group of trained subjects results not only in a lower post-exercise increase in the concentration of hypoxanthine, xanthine and uric acid but also in that of uridine. This indicates the possibility of performing high-intensity work with a lower loss of not only purine but also pyrimidine.


Asunto(s)
Eritrocitos/metabolismo , Ejercicio Físico/fisiología , Nucleótidos de Purina/metabolismo , Purinas/sangre , Pirimidinas/sangre , Adulto , Humanos , Hipoxantina/metabolismo , Hipoxantina Fosforribosiltransferasa/metabolismo , Masculino , Purinas/metabolismo , Pirimidinas/metabolismo , Ácido Úrico/metabolismo , Xantina/metabolismo , Adulto Joven
14.
J Eur Acad Dermatol Venereol ; 31(10): 1581-1594, 2017 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-28786499

RESUMEN

The term 'sclerosing diseases of the skin' comprises specific dermatological entities which have fibrotic changes of the skin in common. These diseases mostly manifest in different clinical subtypes according to cutaneous and extracutaneous involvement and can sometimes be difficult to distinguish from each other. The present guideline focuses on characteristic clinical and histopathological features, diagnostic scores and the serum autoantibodies most useful for differential diagnosis. In addition, current strategies in the first- and advanced-line therapy of sclerosing skin diseases are addressed in detail. Part 2 of this guideline provides clinicians with an overview of the diagnosis and treatment of scleromyxedema, scleredema (of Buschke) and nephrogenic systemic sclerosis (nephrogenic fibrosing dermopathy).


Asunto(s)
Dermopatía Fibrosante Nefrogénica/diagnóstico , Dermopatía Fibrosante Nefrogénica/terapia , Escleredema del Adulto/diagnóstico , Escleredema del Adulto/terapia , Escleromixedema/diagnóstico , Escleromixedema/terapia , Diagnóstico Diferencial , Humanos , Dermopatía Fibrosante Nefrogénica/patología , Escleredema del Adulto/patología , Escleromixedema/patología
15.
J Eur Acad Dermatol Venereol ; 31(9): 1401-1424, 2017 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-28792092

RESUMEN

The term 'sclerosing diseases of the skin' comprises specific dermatological entities, which have fibrotic changes of the skin in common. These diseases mostly manifest in different clinical subtypes according to cutaneous and extracutaneous involvement and can sometimes be difficult to distinguish from each other. The present guideline focuses on characteristic clinical and histopathological features, diagnostic scores and the serum autoantibodies most useful for differential diagnosis. In addition, current strategies in the first- and advanced-line therapy of sclerosing skin diseases are addressed in detail. Part 1 of this guideline provides clinicians with an overview of the diagnosis and treatment of localized scleroderma (morphea), and systemic sclerosis including overlap syndromes of systemic sclerosis with diseases of the rheumatological spectrum.


Asunto(s)
Esclerodermia Localizada , Esclerodermia Sistémica , Enfermedades Indiferenciadas del Tejido Conectivo , Humanos , Diagnóstico Diferencial , Europa (Continente) , Examen Físico , Pronóstico , Esclerodermia Localizada/diagnóstico , Esclerodermia Localizada/patología , Esclerodermia Localizada/terapia , Esclerodermia Sistémica/diagnóstico , Esclerodermia Sistémica/patología , Esclerodermia Sistémica/terapia , Enfermedades Indiferenciadas del Tejido Conectivo/diagnóstico , Enfermedades Indiferenciadas del Tejido Conectivo/patología , Enfermedades Indiferenciadas del Tejido Conectivo/terapia
16.
G Ital Dermatol Venereol ; 150(5): 595-601, 2015 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-26333555

RESUMEN

AIM: The aim of our study was to assess the usefulness of high frequency ultrasonography in the diagnosis of melanoma. METHODS: We examined 84 patients with suspicious melanocytic skin lesions, including 19 cases of melanoma. In vivo high-resolution ultrasonography (30 MHz) was performed prior to excision. RESULTS: In ultrasound scans early melanomas presented as flat oval or fusiform shaped structures and were clearly demarcated, while advanced melanomas were characterized by a roundish shape with less distinct borders. The ultrasonographic thickness of in situ melanomas ranged from 0.02 to 0.85 mm. In the case of invasive tumors, the mean thickness evaluated by high frequency ultrasonography was 10.7% higher compared to the Breslow Score (1.44±0.8 mm and 1.3±0.88 mm, respectively). In all melanomas of Breslow Score of 1 mm or more ultrasound also indicated a Breslow Score of 1 mm or more. CONCLUSION: High frequency ultrasound examination has limited value in differential diagnosis of melanoma, but it gives a clear picture of the size and depth of the tumor. The method should be used as a complementary method (after dermoscopy and, where applicable, reflectance confocal microscopy) in preoperative evaluation of the tumor. In some cases of locally advanced melanoma, ultrasound examination may allow to reduce the number of surgical procedures and favor the decision of a one-time surgical treatment (removal of primary tumor and sentinel lymph node biopsy at the same time).


Asunto(s)
Dermoscopía/métodos , Melanoma/diagnóstico por imagen , Neoplasias Cutáneas/diagnóstico por imagen , Diagnóstico Diferencial , Humanos , Melanoma/patología , Microscopía Confocal/métodos , Invasividad Neoplásica , Neoplasias Cutáneas/patología , Ultrasonografía
17.
Skin Res Technol ; 20(4): 503-9, 2014 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-24528151

RESUMEN

BACKGROUND/PURPOSE: Reflectance confocal microscopy (RCM) is a non-invasive method for high-resolution, in vivo imaging of the epidermis and upper dermis. The purpose of the study was to evaluate the potential usefulness of RCM as a non-invasive diagnostic tool for Hailey-Hailey disease (familial benign chronic pemphigus). METHODS: Four patients with Hailey-Hailey disease were examined by RCM. Subsequently, punch biopsies were taken to compare RCM images with corresponding histopathologic findings. RESULTS: On RCM images, the most sticking feature was acantholysis at the level of the granular and spinous layer, resembling a 'dilapidated brick wall'. We suggest the term 'dilapidated brick wall RCM sign' to describe this feature and to distinguish from the corresponding histopathology finding. Other RCM features included: epidermal disarray, intraepidermal clefts, inflammatory cells in the epidermis and in the superficial dermis. These RCM abnormalities correlated with analogous histopathology findings. CONCLUSION: Reflectance confocal microscopy is a promising non-invasive diagnostic tool for Hailey-Hailey disease. The method may also be considered useful for choosing the best site for biopsy, which may aid pathology evaluation and spare time needed to establish the diagnosis.


Asunto(s)
Dermoscopía/métodos , Microscopía Confocal/métodos , Microscopía de Interferencia/métodos , Pénfigo Familiar Benigno/patología , Piel/patología , Estudios de Factibilidad , Femenino , Humanos , Masculino , Persona de Mediana Edad , Reproducibilidad de los Resultados , Sensibilidad y Especificidad
18.
Arch Med Sadowej Kryminol ; 64(4): 199-211, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-25909916

RESUMEN

The authors made an attempt to verify if a coconut can be used as a model of human skull to determine the homicide weapon. During our experiment 27 strike attempts were performed with the use of 9 different tools. Among them there were authentic murder weapons and instruments which had been used in similar experiments conducted on human skulls in 1955. Depending on the size of an area in contact with a coconut, weapons caused dents corresponding to the shape of a weapon, irregular fractures or long linear cracks. Our results have shown that coconut can be used as an inexpensive screening model of human skull, but only to determine fractures made by tools with small striking surface.


Asunto(s)
Cocos , Patologia Forense/métodos , Homicidio , Modelos Anatómicos , Fracturas Craneales , Heridas por Arma de Fuego , Traumatismos Cerrados de la Cabeza , Humanos , Cráneo/lesiones
19.
Vet Microbiol ; 163(3-4): 235-41, 2013 May 03.
Artículo en Inglés | MEDLINE | ID: mdl-23465470

RESUMEN

Eighteen-day-old domestic geese (Anser anser f. domestica) and 3-week-old Canada geese (Branta canadensis) were experimentally infected with 10(6) EID50/bird of H5N1 high pathogenicity avian influenza (HPAI) virus isolates belonging to clades 1 and 2.2. Clinical signs were observed in all of the groups and included listlessness, inappetence, marked incoordination, torticollis, paralysis and lethargy. Mortality reached 100% (Canada geese) and 40-50% (domestic geese). During necropsy, congestion and hemorrhagic lesions were most often observed. Histopathological lesions were located in multiple organs and included inflammatory and hemorrhagic changes and, in later stages, occurrences of necrosis. All of the tested organ samples collected between 3 and 8 days PI were found positive in rRT-PCR, but the highest concentration of RNA was found in the brain. The observed delayed onset of mortality and prolonged duration of the disease in young domestic geese may be related to numerous host and virus factors.


Asunto(s)
Subtipo H5N1 del Virus de la Influenza A/fisiología , Gripe Aviar/patología , Gripe Aviar/virología , Animales , Encéfalo/patología , Gansos , Subtipo H5N1 del Virus de la Influenza A/patogenicidad , Gripe Aviar/mortalidad
20.
Pol J Vet Sci ; 15(2): 323-8, 2012.
Artículo en Inglés | MEDLINE | ID: mdl-22844711

RESUMEN

During a 3-year surveillance study for avian influenza virus (AIV) infections at the Jeziorsko reservoir in central Poland, 549 oropharyngeal or cloacal swabs from 366 birds of 14 species belonging to 3 orders (Anseriformes, Charadriiformes and Gruiformes) were tested. AIV was detected in 14 birds (3.8%): Common Teals (12x), Mallard (1x) and Garganey (1x). Three potentially dangerous H5 AIV were detected in Common Teals (2x) and Garganey (1x) but all of them revealed a low pathogenic pathotype. A unique cleavage site amino acid motif PQREIR*GLF was found in one H5 isolate from a Garganey.


Asunto(s)
Gripe Aviar/virología , Orthomyxoviridae/aislamiento & purificación , Secuencia de Aminoácidos , Animales , Secuencia de Bases , Aves , Regulación Viral de la Expresión Génica/fisiología , Hemaglutininas Virales/química , Hemaglutininas Virales/genética , Hemaglutininas Virales/metabolismo , Gripe Aviar/epidemiología , Orthomyxoviridae/clasificación , Orthomyxoviridae/genética , Filogenia , Polonia/epidemiología , Conformación Proteica
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