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Human mitochondrial diseases are a group of heterogeneous diseases caused by defects in oxidative phosphorylation, due to mutations in mitochondrial (mtDNA) or nuclear DNA. The diagnosis of mitochondrial disease is challenging since mutations in multiple genes can affect mitochondrial function, there is considerable clinical variability and a poor correlation between genotype and phenotype. Herein we assessed mitochondrial function in peripheral blood mononuclear cells (PBMCs) and platelets from volunteers without known metabolic pathology and patients with mitochondrial disease. Oxygen consumption rates were evaluated and respiratory parameters indicative of mitochondrial function were obtained. A negative correlation between age and respiratory parameters of PBMCs from control individuals was observed. Surprisingly, respiratory parameters of PBMCs normalized by cell number were similar in patients and young controls. Considering possible compensatory mechanisms, mtDNA copy number in PBMCs was quantified and an increase was found in patients with respect to controls. Hence, respiratory parameters normalized by mtDNA copy number were determined, and in these conditions a decrease in maximum respiration rate and spare respiratory capacity was observed in patients relative to control individuals. In platelets no decay was seen in mitochondrial function with age, while a reduction in basal, ATP-independent and ATP-dependent respiration normalized by cell number was detected in patients compared to control subjects. In summary, our results offer promising perspectives regarding the assessment of mitochondrial function in blood cells for the diagnosis of mitochondrial disease, minimizing the need for invasive procedures such as muscle biopsies, and for following disease progression and response to treatments.

Background Infective endocarditis (IE) is an important cause of morbidity and mortality. In recent years there have been changes in the epidemiology of this disease. Aim To describe epidemiological, clinical and microbiological characteristics of patients with a diagnosis of IE admitted to a pediatric hospital from 2011 to 2018. Methods Observational, descriptive, retrospective study. Children under 15 years of age hospitalized with IE in a reference pediatric hospital in Uruguay were included. Calculations of measures of central tendency and dispersion were used, as well as absolute and percentage frequencies. Results 11 children were identified, mean age 4 years 6 months (range 5 months - 13 years). Five without risk factors, 6 with risk factors: 5 congenital heart disease (2 with cardiac surgery) and 1 central venous catheter. In 11 blood cultures were obtained prior to antibiotics, 10 a single sample, 1 with two samples. In 9 cases a microorganism was isolated. The most frequent was Staphylococcus aureus 4 children (2 methicillin resistant), followed by group viridans Streptococcus 3 children. In 10 children vegetations were found in the echocardiogram, 6 valvular. The most frequent empirical treatment was ceftriaxone and vancomycin. Complications were heart failure and septic emboli. 5 children required heart surgery. One patient died. Conclusions An increase of IE in children without heart disease has been observed, then, it is necessary to have high clinical suspicion in febrile patients. It is important to perform blood cultures prior to the start of antibiotics and to consider coverage against Staphylococcus aureus in empirical initial treatment.

Background: Primary meningococcal arthritis (PMA) is defined as the presence of acute septic arthritis with the identification of Neisseria meningitidis in synovial fluid or blood cultures but no clinical evidence of sepsis or meningitis. This report aimed to describe a clinical case of PMA caused by serogroup W, an uncommon etiology of this disease in Uruguay, and review the available literature. Case report: We report the case of a 5-year-old female, with no past medical history, admitted to the emergency department with a 12-hour history of fever of 39 °C and a limp. The patient was hemodynamically stable and had no clinical evidence of meningitis. Hip ultrasound showed an increase in synovial fluid. Arthrocentesis showed purulent exudate and synovial fluid culture showed no growth after five days. The blood culture showed isolates of N. meningitidis, serogroup W. The patient received treatment with ceftriaxone, and drainage of the affected joint was performed with excellent clinical response. Conclusions: Primary meningococcal arthritis is a rare presentation of meningococcal disease. Systematic arthrocentesis and the adequacy of antibiotic therapy when septic arthritis is clinically suspected are essential for confirming the diagnosis and decompressive drainage of the involved joint. This report is the first of PMA caused by serogroup W in Uruguay. Although the most common serogroup involved in meningococcal arthritis is serogroup B in Uruguay, an increase in serogroup W-related diseases has been reported in Chile and Argentina, emphasizing the need for epidemiological surveillance.

Resumen Introducción: La tuberculosis es un problema de salud pública de alta prevalencia. Los niños constituyen una población de riesgo de enfermar y evolucionar a formas graves. Objetivo: Describir la frecuencia, características epidemiológicas, clínicas y evolutivas de los pacientes bajo 15 años de edad, internados por tuberculosis extra-pulmonar (TBCEP) en el Centro Hospitalario Pereira Rossell-Uruguay, durante 2009 a 2019. Pacientes y Métodos: Estudio descriptivo, retrospectivo, revisión de historias clínicas y registros de la Comisión Honoraria para la Lucha Antituberculosa. Variables: edad, sexo, nexo epidemiológico, clínica, confirmación diagnóstica, tratamiento y complicaciones. Resultados: Se registraron 77 casos de TBCEP, fueron hospitalizados en este centro 45 (58%). Media de edad 7 años, varones 25 (56%). Todos recibieron vacuna BCG. Se identificó nexo epidemiológico en 28 (62%). Las formas de TBCEP fueron: pleural 26 (58%), sistema nervioso central (SNC) 9 (20%), linfoganglionar 4 (9%), cutánea 2 (5%), ósea 1 (2%), peritoneal 1 (2%), pleural-peritoneal 1 (2%), ósea-SNC 1 (2%). Confirmación etiológica hubo en 23 (51%): mediante cultivo 16, GeneXpert 5, por ambos 2. Completaron tratamiento 36 (80%). Presentaron complicaciones 4 (9%): status convulsivo 2, hemorragia cerebral 1, fallo orgánico múltiple 1. Conclusiones: La TBCEP ocurrió en niños previamente sanos. El diagnóstico requiere alto índice de sospecha y la confirmación el empleo simultáneo de varias técnicas diagnósticas.

Infective endocarditis (IE) is an important cause of morbidity and mortality. In recent years there have been changes in the epidemiology of this disease.To describe epidemiological, clinical and microbiological characteristics of patients with a diagnosis of IE admitted to a pediatric hospital from 2011 to 2018.Observational, descriptive, retrospective study. Children under 15 years of age hospitalized with IE in a reference pediatric hospital in Uruguay were included. Calculations of measures of central tendency and dispersion were used, as well as absolute and percentage frequencies.11 children were identified, mean age 4 years 6 months (range 5 months - 13 years). Five without risk factors, 6 with risk factors: 5 congenital heart disease (2 with cardiac surgery) and 1 central venous catheter. In 11 blood cultures were obtained prior to antibiotics, 10 a single sample, 1 with two samples. In 9 cases a microorganism was isolated. The most frequent was Staphylococcus aureus 4 children (2 methicillin resistant), followed by group viridans Streptococcus 3 children. In 10 children vegetations were found in the echocardiogram, 6 valvular. The most frequent empirical treatment was ceftriaxone and vancomycin. Complications were heart failure and septic emboli. 5 children required heart surgery. One patient died.An increase of IE in children without heart disease has been observed, then, it is necessary to have high clinical suspicion in febrile patients. It is important to perform blood cultures prior to the start of antibiotics and to consider coverage against Staphylococcus aureus in empirical initial treatment.

Early development of the Adriatic sturgeon Acipenser naccarii from its free embryo after hatching (stage 36), until late embryo stage, when the transition to exogenous feeding starts (stage 45) is described. Special emphasis is given to morphological development and description of the different structures that are formed at each life stage. After hatching, free embryos still present embryonic characteristics, little pigmentation and an ovoid yolk sac. The mouth begins to open on the second day post hatch (dph) and is fully open at 3 dph. The head begins to separate from the body at 4 dph and straightens at 6 dph. The first fins to appear are the pectoral fins on the yolk sac and an embryological fin fold that extends from behind the head to the posterior part of the yolk sac. All other fins will develop from this fold. At 7 dph the caudal fin begins to take a heterocercal form and dorsal scutes are observed. This study provides information that will assist aquaculturists by establishing a reference for the normal development of A. naccarii, which may be useful for evaluating the suitability and quality of fish produced for restocking.

Background Uruguay incorporated the conjugate vaccine against Haemophilus influenzae b (Hib) in 1994. In 2008, the vaccine was changed from one with natural conjugated capsular polysaccharide to one with a synthetic polysaccharide component. We describe the frequency and characteristics of invasive Hib infections in children hospitalized in a Pediatric Reference Hospital (PRH) between January 1st, 2000 and December 31st, 2017. Methods Sterile site Hib isolations from hospitalized children were included. Clinical and microbiological characteristics were analyzed. Favorable conditions for the infection were considered: incomplete immunization, immunodeficiencies and associated pathologies. Two periods are described: 1, prior to vaccine change (1/1 st/2000- 12/31/08) and 2, post-change (1/1 st/09- 12/31st/17). Results 45 children were hospitalized: 5 in the first period and 40 in the second. The hospitalization rate per 10,000 discharges was 0.41 (95% CI 0.05–0.77) and 4.2/10,000 (95% CI 2.89–5.48), respectively (p < 0.01). The diagnoses at discharge were: meningitis/ventriculitis (20), pneumonia (16), bacteremia (3), epiglottitis (1), arthritis (1), cellulitis (3) and obstruction of the upper airway (1). Four children presented comorbidities. Twenty seven received less than 3 doses of anti-Hib vaccination and 18 were properly vaccinated (2 were immunodeficient). The median hospitalization was 14 days, 18 children required intensive therapy. Conclusions Observed change may be due to: incomplete primary series, inhomogeneous vaccine coverage and immunogenicity of the synthetic polysaccharide. To reduce this public health problem, epidemiological surveillance., Immunology; Microbiology; Epidemiology; Infectious disease; Pediatrics; Vaccinal failures; Vaccination coverage; Haemophilus influenzae type b; Immunogenicity

The Strait of Gibraltar is a geographic region between the south of Europe and the north of Africa. On the basis of the geological, geographical and ecological evidence, this is considered a historical region. Prehistoric societies that lived during the Pleistocene and Holocene on both sides of the Strait left behind very similar archaeological records. Marine resource exploitation is recorded in the African zone of the Strait, where malacofauna is found in the Middle Pleistocene levels at Benzú rock shelter dated at 254 ka. To the north of the strait, the Cadiz coast has shell midden sites associated with Mousterian technology. Continuity in the technological records related to the Upper Palaeolithic is present in this area and on both slopes of the Strait, as in Nerja Cave (Spain), Gibraltar caves (UK) and the caves in the Tangier area (Morocco). Although some variability in the technological and cultural sequences has been observed on both sides of the strait the marine resources exploitation suggests similar ways of life. During the Holocene, continuity appears among agricultural groups. An increase in the fishing and shellfish collection by the Neolithic societies is a further interesting aspect of this region, as is shown in Tetouan Caves (Gar Cahal and Kaf That el Ghar) and Benzú Cave (Ceuta) on the southern side of the Strait, and Embarcadero Rio Palmones and Retamar (Cádiz) on the north side. The new data collected during recent years demonstrates a deeper antiquity of the shell midden deposits and in the exploitation of marine resources in this area for hunter-gatherer societies with Mousterian technology. A new vision also emerged for the economy of the Neolithic societies of the Strait of Gibraltar, with marine resources exploitation representing as a very important activity., This work has been financially supported by the Benzú Project (Spanish Ministry of Culture and Ceuta Government158/08 – PV/BENZU/CV), the Project DGES HAR2008-06477-C03-02. The AECID Hispanic-Moroccan projects PCI A/2893/05, A/6317/06 and A/010823/07, and Junta de Andalucía project P07-HUM-03015. Authors are grateful to Carol and Paul Beven and Ana Durante for their editorial assistance and to the anonymous referees for their helpful suggestions. Also, we are grateful to Ivan Briz and Marco Madella for the corrections and suggestions.

Analysing historical citations and the specimens preserved in museums, as well as zoological collections in France, Portugal, Spain, and Italy, the historical and current distributions of sturgeons in southern Europe have been studied, using morphological and genetic techniques. Errors were found in the classification of specimens of non-Adriatic origin, and 13 specimens were found to be classified as Acipenser sturio when they were in fact Acipenser naccarii. Of the 86 specimens considered valid, 44 had been captured in the Adriatic and 42 from other parts of the study area (Spain, France, Mediterranean Italy, Portugal, and Sweden). A. sturio is considered to have been present throughout Europe and currently is an endangered population in the Gironde-Garonne-Dordogne basin (France), while A. naccarii is considered endemic to the Adriatic. However, the data gathered show that it had a much broader distribution than the current one, extending at least from the French Atlantic to the Adriatic Sea.

Community acquired bacterial pneumonia represents 8.7% of overall discharges of children under 15 years old in the Pediatric Hospital of the Centro Hospitalario Pereira Rossell; since 1997 treatment guidelines are being applied. Changes in etiology of this disease in children hospitalized in our institution from 1998 to 2004 were studied. Streptococcus pneumoniae was the most frequent agent in every year of the period, 91.4 +/- 2.3%; its susceptibility to penicillin has remained stable; serotypes 14, 1 and 5 were the most frequent isolated. In 2002 the first case of community acquired methicillin resistant S. aureus was identified; isolations of this microorganism were 5.8% in 2003 and 6.3% in 2004. Surveillance of etiology of community acquired pneumonia is mandatory in order to adjust guidelines to changes in agents and their antimicrobial susceptibility.

La neumonía bacteriana adquirida en la comunidad representa en promedio 8,7% de los egresos de niños bajo 15 años de edad asistidos en el Hospital Pediátrico del Centro Hospitalario Pereira Rossell; desde 1997 se aplican guías para su diagnóstico y tratamiento. Se estudió la evolución de la etiología de esta enfermedad en los niños hospitalizados en dicho hospital en el período 1998-2004. Streptococcus pneumoniae fue el agente más frecuente todos los años, 91,4 ± 2,3%. Su susceptibilidad a penicilina permaneció sin cambios; los serotipos más frecuentes fueron: 14, 1 y 5. En el año 2002 se identificó el primer caso de Staphylococcus aureus resistente a meticilina adquirido en comunidad; este agente representó 5,8% de los aislados en 2003 y 6,3% en 2004. Es necesario mantener la vigilancia de la etiología de la neumonía bacteriana adquirida en la comunidad para adecuar las guías de diagnóstico y tratamiento a los cambios en los agentes y su susceptibilidad a los antimicrobianos

We identified and quantified the effect of season, depth, and inner and outer panel mesh size on the trammel net catch species composition and catch rates in four southern European areas (Northeast Atlantic: Basque Country, Spain; Algarve, Portugal; Gulf of Cadiz, Spain; Mediterranean: Cyclades, Greece), all of which are characterised by important trammel net fisheries. In each area, we conducted, in 1999-2000, seasonal, experimental fishing trials at various depths with trammel nets of six different inner/outer panel mesh combinations (i.e., two large outer panel meshes and three small inner panel meshes). Overall, our study covered some of the most commonly used inner panel mesh sizes, ranging from 40 to 140 mm (stretched). We analysed the species composition and catch rates of the different inner/outer panel combinations with regression, multivariate analysis (cluster analysis and multidimensional scaling) and other 'community' techniques (number of species, dominance curves). All our analyses indicated that the outer panel mesh sizes used in the present study did not significantly affect the catch characteristics in terms of number of species, catch rates and species composition. Multivariate analyses and seasonal dominance plots indicated that in Basque, Algarve and Cyclades waters, where sampling covered wide depth ranges, both season and depth strongly affected catch species compositions. For the Gulf of Cadiz, where sampling was restricted to depths 10-30 m, season was the only factor affecting catch species composition and thus group formation. In contrast, the inner panel mesh size did not generally affect multidimensional group formation in all areas but affected the dominance of the species caught in the Algarve and the Gulf of Cadiz. Multivariate analyses also revealed 11 different metiers (i.e., season-depth-species-inner panel mesh size combinations) in the four areas. This clearly indicated the existence of trammel net 'hot spots', which represent essential habitats (e.g., spawning, nursery or wintering grounds) of the life history of the targeted and associated species. The number of specimens caught declined significantly with inner panel mesh size in all areas. We attributed this to the exponential decline in abundance with size, both within- and between-species. In contrast, the number of species caught in each area was not related to the inner mesh size. This was unexpected and might be a consequence of the wide size-selective range of trammel nets. (c) 2006 Elsevier B.V All rights reserved.