Association of the superior semicircular canal and tegmen tympani dehiscences and its relationship with the pneumatisation of the temporal bone.

PURPOSE: To analyse the degree of pneumatisation of the temporal bone when there is an association between dehiscence of the superior semicircular canal and dehiscence of the tegmen tympani. MATERIALS AND METHODS: We analysed a retrospective CT study of 124 selected cases. A single inclusion criterion was applied: the presence of a dehiscence of the tegmen tympani. On the other hand, the degree of temporal pneumatisation was assessed by axial and coronal planes, and has been divided into the following grades O, I, II and III, according to the status and relationship of the mastoid, the bony labyrinth, the petrous segment of the carotid canal and sigmoid sinus. RESULTS: Of the 124 cases studied, 35 (28.2%) presented both dehiscences. In 26 of the 35 (47.3%), grade II pneumatisation, 4 (14,8%), grade I, and 5 (11,9%) grade III was observed, with a statistically significant relationship (p < 0.001). On the other hand, we did not find a significant relationship when relating both dehiscences in any age or sex group. However, when relating the degree of pneumatisation to sex, among those with grade III pneumatisation, the proportion of men (52.4%) was significantly higher than that of women (47.6%) (p = 0.017). CONCLUSION: We have detected a statistically significant relationship between the coexistence of grade II pneumatisation and the presence of both dehiscences in the temporal bone.

Virulence of entomopathogenic nematodes and their symbiotic bacteria, under laboratory conditions, aiming controlling Saccharicoccus sacchari (Cockerell, 1895) (Hemiptera: Pseudococcidae) on sugarcane / Virulência de nematoides entomopatogênicos e suas bactérias simbióticas, sob condições de laboratório, visando controlar Saccharicoccus sacchari (Cockerell, 1895) (Hemiptera: Pseudococcidae) na cana-de-açúcar

Sugarcane crops Saccharum spp. (Poales: Poaceae) produces different derivatives to the world: sugar, ethanol and bioenergy. Despite the application of pesticides, insect pests still cause economic losses, among these the pink sugarcane mealybug Saccharicoccus sacchari (Cockerell, 1895) (Hemiptera: Pseudococcidae) causing direct and indirect damage to the plant. This study assess the virulence of three entomopathogenic nematodes (EPNs) species and their symbiont bacteria against the pink sugarcane mealybug, under laboratory conditions. Fourteen treatments represented by control (distilled water), Heterorhabditis bacteriophora Poinar, 1976 (HB EN01) (Rhabditida: Heterorhabditidae), Steinernema rarum (Doucet, 1986) (PAM25) and Steinernema carpocapsae Weiser, 1955 (All) (Rhabditida: Steinermatidae) at concentrations of 25, 50, 75 and 100 infective juveniles (IJs)/insect, and the standard chemical product, thiamethoxam, were assayed. In a second experiment, the bacteria Photorhabdus luminescens (Thomas and Poinar, 1979), Xenorhabdus szentirmaii Lengyel, 2005 and Xenorhabdus nematophila (Poinar and Thomas, 1965) (Enterobacterales: Morganellaceae) at 3.0 x 109 cells/ml were assessed for each treatment. Ten replications were stablished, each one counting ten females/mealybugs inside a 10 cm Petri dish, amounting 100 individuals/treatment. All treatments were kept under stable conditions (25±1 ºC, H 70±10%, in the dark). All nematodes species infected S. sacchari. Steinerma rarum (PAM25) provided the highest mortality against the pink sugarcane mealybug (79.25%), followed by H. bacteriophora (HB EN01) (58.25%) and S. carpocapsae (All) (42.50%) (P<0.001). The mortality rate caused by X. szentirmaii, P. luminescens and X. nematophila were 40, 45 and 20%, respectively. Steinerma rarum (PAM25) has conditions to be a potential agent to be incorporate into the integrated pest management in sugarcane.

A cultura da cana-de-açúcar Saccharum spp. (Poales: Poaceae) produz diferentes derivados para o mundo: açúcar, etanol e bioenergia. Apesar da aplicação de pesticidas, os insetos-praga ainda causam prejuízos econômicos, dentre eles a cochonilha rosada da cana-de-açúcar Saccharicoccus sacchari (Cockerell, 1895) (Hemiptera: Pseudococcidae) causando danos diretos e indiretos à planta. Este estudo avaliou a virulência de três espécies de nematoides entomopatogênicos (NEPs) e suas bactérias simbiontes contra a cochonilha rosada da cana-de-açúcar, em condições de laboratório. Quatorze tratamentos representados pelo controle (água destilada), Heterorhabditis bacteriophora Poinar, 1976 (HB EN01) (Rhabditida: Heterorhabditidae), Steinernema rarum (Doucet, 1986) (PAM25) e Steinernema carpocapsae Weiser, 1955 (All) (Rhabditida: Steinermatidae) nas concentrações de 25, 50, 75 e 100 juvenis infectantes (JIs)/inseto, e o produto químico padrão, tiametoxam, foram testados. Em um segundo experimento, a bactéria Photorhabdus luminescens (Thomas e Poinar, 1979), Xenorhabdus szentirmaii Lengyel, 2005 e Xenorhabdus nematophila (Poinar e Thomas, 1965) (Enterobacterales: Morganellaceae) em 3,0 x 109 células/ml foram avaliadas para cada tratamento. Dez repetições foram estabelecidas, cada uma contendo dez fêmeas/cochonilhas dentro de uma placa de Petri de 10 cm, totalizando 100 indivíduos/tratamento. Todos os tratamentos foram mantidos em condições estáveis (25±1 ºC, U 70±10%, no escuro). Todas as espécies de nematoides infectaram S. sacchari. Steinerma rarum (PAM25) proporcionou a maior mortalidade contra a cochonilha rosada da cana-de-açúcar (79,25%), seguida por H. bacteriophora (HB EN01) (58,25%) e S. carpocapsae (All) (42,50%) (P<0,001). As taxas de mortalidade causada por X. szentirmaii, P. luminescens e X. nematophila foram de 40, 45 e 20%, respectivamente. Steinerma rarum (PAM25) tem condições de ser um agente potencial a ser incorporado ao manejo integrado de pragas da cana-de-açúcar.

Virulence of entomopathogenic nematodes and their symbiotic bacteria, under laboratory conditions, aiming controlling Saccharicoccus sacchari (Cockerell, 1895) (Hemiptera: Pseudococcidae) on sugarcane

Abstract Sugarcane crops Saccharum spp. (Poales: Poaceae) produces different derivatives to the world: sugar, ethanol and bioenergy. Despite the application of pesticides, insect pests still cause economic losses, among these the pink sugarcane mealybug Saccharicoccus sacchari (Cockerell, 1895) (Hemiptera: Pseudococcidae) causing direct and indirect damage to the plant. This study assess the virulence of three entomopathogenic nematodes (EPNs) species and their symbiont bacteria against the pink sugarcane mealybug, under laboratory conditions. Fourteen treatments represented by control (distilled water), Heterorhabditis bacteriophora Poinar, 1976 (HB EN01) (Rhabditida: Heterorhabditidae), Steinernema rarum (Doucet, 1986) (PAM25) and Steinernema carpocapsae Weiser, 1955 (All) (Rhabditida: Steinermatidae) at concentrations of 25, 50, 75 and 100 infective juveniles (IJs)/insect, and the standard chemical product, thiamethoxam, were assayed. In a second experiment, the bacteria Photorhabdus luminescens (Thomas and Poinar, 1979), Xenorhabdus szentirmaii Lengyel, 2005 and Xenorhabdus nematophila (Poinar and Thomas, 1965) (Enterobacterales: Morganellaceae) at 3.0 x 109 cells/ml were assessed for each treatment. Ten replications were stablished, each one counting ten females/mealybugs inside a 10 cm Petri dish, amounting 100 individuals/treatment. All treatments were kept under stable conditions (25±1 ºC, H 70±10%, in the dark). All nematodes species infected S. sacchari. Steinerma rarum (PAM25) provided the highest mortality against the pink sugarcane mealybug (79.25%), followed by H. bacteriophora (HB EN01) (58.25%) and S. carpocapsae (All) (42.50%) (P 0.001). The mortality rate caused by X. szentirmaii, P. luminescens and X. nematophila were 40, 45 and 20%, respectively. Steinerma rarum (PAM25) has conditions to be a potential agent to be incorporate into the integrated pest management in sugarcane.

Resumo A cultura da cana-de-açúcar Saccharum spp. (Poales: Poaceae) produz diferentes derivados para o mundo: açúcar, etanol e bioenergia. Apesar da aplicação de pesticidas, os insetos-praga ainda causam prejuízos econômicos, dentre eles a cochonilha rosada da cana-de-açúcar Saccharicoccus sacchari (Cockerell, 1895) (Hemiptera: Pseudococcidae) causando danos diretos e indiretos à planta. Este estudo avaliou a virulência de três espécies de nematoides entomopatogênicos (NEPs) e suas bactérias simbiontes contra a cochonilha rosada da cana-de-açúcar, em condições de laboratório. Quatorze tratamentos representados pelo controle (água destilada), Heterorhabditis bacteriophora Poinar, 1976 (HB EN01) (Rhabditida: Heterorhabditidae), Steinernema rarum (Doucet, 1986) (PAM25) e Steinernema carpocapsae Weiser, 1955 (All) (Rhabditida: Steinermatidae) nas concentrações de 25, 50, 75 e 100 juvenis infectantes (JIs)/inseto, e o produto químico padrão, tiametoxam, foram testados. Em um segundo experimento, a bactéria Photorhabdus luminescens (Thomas e Poinar, 1979), Xenorhabdus szentirmaii Lengyel, 2005 e Xenorhabdus nematophila (Poinar e Thomas, 1965) (Enterobacterales: Morganellaceae) em 3,0 x 109 células/ml foram avaliadas para cada tratamento. Dez repetições foram estabelecidas, cada uma contendo dez fêmeas/cochonilhas dentro de uma placa de Petri de 10 cm, totalizando 100 indivíduos/tratamento. Todos os tratamentos foram mantidos em condições estáveis (25±1 ºC, U 70±10%, no escuro). Todas as espécies de nematoides infectaram S. sacchari. Steinerma rarum (PAM25) proporcionou a maior mortalidade contra a cochonilha rosada da cana-de-açúcar (79,25%), seguida por H. bacteriophora (HB EN01) (58,25%) e S. carpocapsae (All) (42,50%) (P 0,001). As taxas de mortalidade causada por X. szentirmaii, P. luminescens e X. nematophila foram de 40, 45 e 20%, respectivamente. Steinerma rarum (PAM25) tem condições de ser um agente potencial a ser incorporado ao manejo integrado de pragas da cana-de-açúcar.

Optical Properties in a ZnS/CdS/ZnS Core/Shell/Shell Spherical Quantum Dot: Electric and Magnetic Field and Donor Impurity Effects.

A theoretical analysis of optical properties in a ZnS/CdS/ZnS core/shell/shell spherical quantum dot was carried out within the effective mass approximation. The corresponding Schrödinger equation was solved using the finite element method via the 2D axis-symmetric module of COMSOL-Multiphysics software. Calculations included variations of internal dot radius, the application of electric and magnetic fields (both oriented along z-direction), as well as the presence of on-center donor impurity. Reported optical properties are the absorption and relative refractive index change coefficients. These quantities are related to transitions between the ground and first excited states, with linearly polarized incident radiation along the z-axis. It is found that transition energy decreases with the growth of internal radius, thus causing the red-shift of resonant peaks. The same happens when the external magnetic field increases. When the strength of applied electric field is increased, the opposite effect is observed, since there is a blue-shift of resonances. However, dipole matrix moments decrease drastically with the increase of the electric field, leading to a reduction in amplitude of optical responses. At the moment impurity effects are activated, a decrease in the value of the energies is noted, significantly affecting the ground state, which is more evident for small internal radius. This is reflected in an increase in transition energies.

Virulence of entomopathogenic nematodes and their symbiotic bacteria, under laboratory conditions, aiming controlling Saccharicoccus sacchari (Cockerell, 1895) (Hemiptera: Pseudococcidae) on sugarcane.

Sugarcane crops Saccharum spp. (Poales: Poaceae) produces different derivatives to the world: sugar, ethanol and bioenergy. Despite the application of pesticides, insect pests still cause economic losses, among these the pink sugarcane mealybug Saccharicoccus sacchari (Cockerell, 1895) (Hemiptera: Pseudococcidae) causing direct and indirect damage to the plant. This study assess the virulence of three entomopathogenic nematodes (EPNs) species and their symbiont bacteria against the pink sugarcane mealybug, under laboratory conditions. Fourteen treatments represented by control (distilled water), Heterorhabditis bacteriophora Poinar, 1976 (HB EN01) (Rhabditida: Heterorhabditidae), Steinernema rarum (Doucet, 1986) (PAM25) and Steinernema carpocapsae Weiser, 1955 (All) (Rhabditida: Steinermatidae) at concentrations of 25, 50, 75 and 100 infective juveniles (IJs)/insect, and the standard chemical product, thiamethoxam, were assayed. In a second experiment, the bacteria Photorhabdus luminescens (Thomas and Poinar, 1979), Xenorhabdus szentirmaii Lengyel, 2005 and Xenorhabdus nematophila (Poinar and Thomas, 1965) (Enterobacterales: Morganellaceae) at 3.0 x 109 cells/ml were assessed for each treatment. Ten replications were stablished, each one counting ten females/mealybugs inside a 10 cm Petri dish, amounting 100 individuals/treatment. All treatments were kept under stable conditions (25±1 ºC, H 70±10%, in the dark). All nematodes species infected S. sacchari. Steinerma rarum (PAM25) provided the highest mortality against the pink sugarcane mealybug (79.25%), followed by H. bacteriophora (HB EN01) (58.25%) and S. carpocapsae (All) (42.50%) (P<0.001). The mortality rate caused by X. szentirmaii, P. luminescens and X. nematophila were 40, 45 and 20%, respectively. Steinerma rarum (PAM25) has conditions to be a potential agent to be incorporate into the integrated pest management in sugarcane.

Biperiodic superlattices and transparent states in graphene.

The transmission and transport properties of biperiodic graphene superlattices are studied theoretically. Special attention is paid to the so-called transparent states of biperiodic superlattices. A Dirac-like Hamiltonian is used to describe the charge carriers in graphene. The transfer matrix method and the Landauer-Büttiker formalism are implemented to obtain the transmittance and conductance, respectively. Similar results to those reported for Schrödinger electrons are obtained. However, in the case of Dirac electrons the splitted bands and the transparent states associated to the biperiodicity depend strongly on the angle of incidence as well as the character of the charge carriers. In fact, the dynamic of the splitted bands and transparent states is inverted for holes. The origin of transparent states is unveiled by obtaining an analytic expression for the transmittance. It is found that resonant transmission through single and double barriers gives rise to transparent states. Regarding the transport properties, it is possible to identify the fundamental changes caused by the biperiodicity. In particular, it is found a splitting, shifting, and diminishment of the conductance peaks with respect to the case of regular periodicity. This opens the door to corroborate experimentally the fundamental characteristics of biperiodic gated graphene superlattices through transport measurements.

SARS-CoV-2 contact tracing among disadvantaged populations during epidemic intervals should be a priority strategy: results from a pilot experiment in Barcelona.

OBJECTIVES: The aim of this study was to trace contacts of coronavirus disease 2019 (COVID-19) hospitalised patients and determine the risk factors of infection in urban areas. STUDY DESIGN: Longitudinal analysis of contacts identified from index cases. METHODS: A contact tracing study was carried out in the Northern Metropolitan area of Barcelona, Spain, during the inter-epidemic lapse of May to July 2020, a period of low SARS-CoV-2 incidence. Index cases were notified from the referral hospital. Contacts were traced and followed up for 14 days. Reverse transcription polymerase chain reaction was performed on day 0 and day 14 for contacts. RESULTS: In total, 368 contacts were identified from 81 index cases (median of seven contacts per index case), from which 308 were traced successfully. The median age of contacts was 28 years, 62% (223 of 368) were men. During the follow-up period, 100 contacts tested positive for COVID-19 (32.5% [95% confidence interval {CI} = 27.3-38.0]), with a secondary infection rate of 48.3% (95% CI = 40.8-55.9) among housemates. Clusters of index and respective contacts tended to aggregate within disadvantaged neighbourhoods (P < 0.001), and non-national index cases (N = 28, 34.1%) resulted in higher secondary infection rates compared with nationals (51.0% [95% CI = 41.0-60.9] vs 22.3% [95% CI = 16.8-28.8]; P < 0.001). CONCLUSIONS: Disadvantaged communities experience a disproportionate burden of COVID-19 and may act as infection reservoirs. Contact tracing with a cross-cutting approach among these communities is required, especially during inter-epidemic periods.

Optical and thermal properties of edible coatings for application in solar drying.

Solar drying is a sustainable process that may impact the quality of dried food. This is because, pigments contained in food are sensitive to sunlight, and exposure to ultraviolet radiation can affect them. We applied biopolymer-based coatings on strawberry, from hydro-colloidal solutions of Opuntia ficus indica-mucilage, fenugreek, xanthan gum, gum Arabic, and guar gum to evaluate their potential use as UV filters for solar drying of food. Thermal properties and the optical transmittance, absorbance and reflectance of the coatings were measured to assess their influence on food-sunlight interaction. During the drying experiments, the moisture content, total anthocyanins (TA), and total phenolic compounds (TPC) were measured. Optical and thermal properties are influenced by the biopolymer-based coatings. Also, the optical properties are influenced by the coating thickness. The differences in optical and thermal properties influence the drying process. Differences exist in the drying rate for strawberry slices with coating, compared with those without the coatings. In general, the TA and TPC content in the product are better preserved under solar drying than in control experiments done in a drying oven. A partial transmittance of solar UV radiation is recommended to obtain increased TA and TPC contents in the dried product.

Estudio preliminar del efecto del consumo de metales pesados en el desarrollo e histología testicular del macho cabrío (Capra hircus) / Preliminary study of the effect of heavy metal consumption on the development and testicular histology of the male goat (Capra hircus)

El objetivo de este estudio fue evaluar el desarrollo testicular y describir la calidad del parénquima testicular de machos cabríos alimentados con pasto, maíz molido y agua obtenidos de campos contaminados con residuos de minería. Se evaluó la concentración de plomo, arsénico y cadmio en sangre y tejido testicular, así como otros indicadores como testosterona, el parénquima testicular, la concentración espermática y porcentaje de espermatozoides malformados. Se encontró mayor concentración de cadmio (Cd) en el parénquima testicular, posiblemente debido a la mayor capacidad de bioacumulación de este metal. El promedio de concentración de testosterona fue de 0.16 mg/dL. El parénquima testicular presentó vacuolización del citoplasma, degeneración del epitelio germinativo con escasas células de Sertoli y Leydig, así como ausencia de espermatogénesis y espermatozoides. La concentración espermática estuvo por debajo de lo reportado como normal. La concentración de espermatozoides y testosterona pudo variar debido a un bajo conteo de células de Leydig y Sertoli. El consumo de alimento y agua contaminados con residuos de minería, permiten que metales pesados como cadmio y arsénico se acumulen en los testículos afectando negativamente el parénquima testicular, pero no el tamaño testicular. (AU)

The aim is to evaluate the testicular development and described the quality of the testicular parenchyma of male goats consuming grass, ground corn and water obtained from fields contaminated with mining residues. The concentration of lead, arsenic and cadmium in blood and testicular tissue was evaluated as well as other indicators such as testosterone concentration, testicular parenchyma, sperm concentration and abnormalities sperm. A higher concentration of cadmium (Cd) were found in the testicular parenchyma, possibly due to the increased bioaccumulation capacity of this metal. The average testosterone concentration was 0.16 mg/dL. The testicular parenchyma presented vacuolization of the cytoplasm degeneration of the germinative epithelium with few Sertoli and Leydig cells, as well as absence of spermatogenesis and spermatozoa. The sperm concentration was below that was reported as normal. The concentration of sperm and testosterone could vary due to a low number of Sertoli and Leydig cells. The intake of food and water contaminated with mining residues, allow heavy metals such as cadmium and arsenic to accumulate in the testicles negatively affect testicular parenchyma, but not testicular size in male goats. (AU)

Pyramidal core-shell quantum dot under applied electric and magnetic fields.

We have theoretically investigated the electronic states in a core/shell pyramidal quantum dot with GaAs core embedded in AlGaAs matrix. This system has a quite similar recent experimental realization through a cone/shell structure [Phys. Status Solidi-RRL 13, 1800245 (2018)]. The research has been performed within the effective mass approximation taking into account position-dependent effective masses and the presence of external electric and magnetic fields. For the numerical solution of the resulting three-dimensional partial differential equation we have used a finite element method. A detailed study of the conduction band states wave functions and their associated energy levels is presented, with the analysis of the effect of the geometry and the external probes. The calculation of the non-permanent electric polarization via the off-diagonal intraband dipole moment matrix elements allows to consider the related optical response by evaluating the coefficients of light absorption and relative refractive index changes, under different applied magnetic field configurations.

A comprehensive district-level laboratory intervention after the Ebola epidemic in Sierra Leone.

BACKGROUND: The 2014-2016 Ebola outbreak exposed the poor laboratory systems in Sierra Leone. Immense needs were recognised across all areas, from facilities, diagnostic capacity, supplies, trained personnel to quality assurance mechanisms. OBJECTIVE: We aimed to describe the first year of a comprehensive intervention, which started in 2015, in a public hospital's general laboratory serving a population of over 500 000 in a rural district. METHODS: The intervention focused on (1) supporting local authorities and healthcare workers in policy implementation and developing procedures to enhance access to services, (2) addressing gaps by investing in infrastructure, supplies, and equipment, (3) development of quality assurance mechanisms via mentorship, bench-side training, and the introduction of quality control and information systems. All work was performed alongside counterparts from the Ministry of Health and Sanitation. RESULTS: We observed a strong increase in patient visits and inpatient and outpatient testing volumes. Novel techniques and procedures were taken up well by staff, leading to improved and expanded service and safety, laying foundations for further improvements. CONCLUSION: This comprehensive approach was successful and the results suggest an increase in trust from patients and healthcare workers.

Comparison of different diluents based on liposomes and egg yolk for ram semen cooling and cryopreservation.

BACKGROUND: Sperm cryopreservation is an important tool for breed improvement, nonetheless, spermatozoids of rams are extremely sensitive to cryopreservation. AIMS: The present research was to compare a liposome-based (OptiXcell: OX) diluent, a commercial TRIS-egg yolk (Optidyl: OP) and a citrate egg yolk-based (CY) diluent on ovine semen quality through the cryopreservation process. METHODS: Semen was collected from four sexually mature Dorper rams during the natural breeding season. After collection, semen was evaluated and diluted in OX, OP or CY diluent and was cooled from 37°C to 4°C for 2 h (refrigerated semen, RS), after that semen-filled straws were placed in liquid nitrogen (LN) vapour for 10 min, then immersed into LN at -196°C (cryopreserved semen, CS) and stored until evaluation. RESULTS: For fresh semen (FS), similar values (P>0.05) were obtained from the 3 diluents [motility (4.2 ± 0.3), viability (75.4 ± 3.2), hypo-osmotic swelling test (HOST) (59.2 ± 2.1), and normality (84.7 ± 3.5)]. The motility values were higher for RS with OX and CY (4.0 ± 0.2 and 3.6 ± 0.3, respectively) compared to OP (3.0 ± 0.21; P<0.05). The viability was reduced after refrigeration and freezing (P<0.05). Refrigerated semen viability was similar for OX (65%), CY (63%) and OP diluents (60%; P>0.05), but for frozen semen, viability was lower in the CY diluent (P<0.05). Membrane integrity (HOST) in OX (53.6 ± 1.7) was similar to that in OP (50.7 ± 1.5; P>0.05) but higher than in CY (48.7 ± 1.5; P<0.05). CONCLUSION: No difference was found between the OX diluents and those made with egg yolk in terms of sperm parameters; however, the OX diluent was more efficient in protecting the integrity of membrane in freezing/thawing semen.

Reporte de Caso. Epidermolisis Bullosa distrófica hereditaria en gemelas. Medellín, Colombia / Case Report. Hereditary dystrophic Epidermolysis Bullosa in newborn twins. Medellín, Colombia

Resumen: Este es un caso de dos pacientes femeninas fruto de un embarazo gemelar bicorial y biamniótico, con diagnóstico de epidermólisis bullosa congénita tipo distrófica, que se confirmó genéticamente con la mutación patogénica en el gen COL7A, una variante previamente no reportada y también llamada la variante Hallopeau-Siemens. Las pacientes fueron manejadas por un grupo médico interdisciplinario, enfocando el manejo en prevenir la aparición de nuevas lesiones y complicaciones, y en el manejo del dolor. Debido a la gravedad de las lesiones y las complicaciones asociadas, una de los pacientes murió. La otra está viva a los 8 meses de edad, sin complicaciones graves y con buen estado nutricional. En estos pacientes el tratamiento de las lesiones cutáneas es el pilar del manejo para reducir la morbimortalidad. El objetivo principal de este texto es proporcionar información para que los profesionales de la salud conozcan la enfermedad, pueda ser diagnosticada oportunamente y así brindar un tratamiento de apoyo a los pacientes y sus familias; y sensibilizar sobre una de las enfermedades clasificadas como huérfanas o raras en nuestro país.

Abstract: We present the case of two female patients from a dichorionic diamniotic twin pregnancy with diagnosis of congenital dystrophic epidermolysis bullosa at Clinica Universitaria Bolivariana, Medellín, Colombia. Molecular genetic testing confirmed a pathogenic mutation in the gene COL7A, a variant previously not reported and also called the Hallopeau-Siemens variant. Patients were followed by an interdisciplinary medical team focusing on prevention of new lesions, complications, and pain management. Because of the severity of the lesions and associated complications one of the patients died, the other one is 8-months-old without severe complications and well nutritional status. In these patients, treatment of skin lesions is the mainstay to reduce morbidity and mortality. The main purpose of this report is to provide information so that health professionals know the disease and it can be diagnosed opportunely and thus provide supportive treatment to patients and their families; and also sensitize health providers about one of the diseases listed as orphan or rare in our country.

A comprehensive district-level laboratory intervention after the ebola epidemic in Sierra Leone

Background: The 2014­2016 Ebola outbreak exposed the poor laboratory systems in Sierra Leone. Immense needs were recognised across all areas, from facilities, diagnostic capacity, supplies, trained personnel to quality assurance mechanisms.Objective: We aimed to describe the first year of a comprehensive intervention, which started in 2015, in a public hospital's general laboratory serving a population of over 500 000 in a rural district.Methods: The intervention focused on (1)supporting local authorities and healthcare workers in policy implementation and developing procedures to enhance access to services, (2) addressing gaps by investing in infrastructure, supplies, and equipment, (3) development of quality assurance mechanisms via mentorship, bench-side training, and the introduction of quality control and information systems. All work was performed alongside counterparts from the Ministry of Health and Sanitation.Results: We observed a strong increase in patient visits and inpatient and outpatient testing volumes. Novel techniques and procedures were taken up well by staff, leading to improved and expanded service and safety, laying foundations for further improvements.Conclusion: This comprehensive approach was successful and the results suggest an increase in trust from patients and healthcare workers

[The importance of semiology and biochemistry in the diagnostic management of a peroxisomal biogenesis disorder]. / Importancia de la semiologia y la bioquimica en el abordaje diagnostico de un trastorno de la biogenesis peroxisomica.

INTRODUCTION: Peroxisomal biogenesis disorders are due to mutations in the PEX genes, which code for peroxins that are required for peroxisomal biogenesis. Clinically, they are expressed as a Zellweger syndrome spectrum, and there is a wide phenotypic variety. They are diagnosed biochemically, and confirmation is molecular. The aim of this illustrative case is to highlight the importance of the clinical features and biochemical testing in the management of a peroxisomal disease. CASE REPORT: A 3-year-old boy with neonatal hypotonia, overall developmental delay and failure to thrive and a pattern of hypomyelinating leukodystrophy in brain resonance. The suspected diagnosis was a disorder affecting the biogenesis of the peroxisomes due to having found a variant with an uncertain meaning in PEX5. The clinical features, the biochemical studies and critical analysis, however, made this diagnosis unlikely. Emphasis is placed on the management that must be applied when a Zellweger syndrome spectrum is suspected. CONCLUSION: In the case reported here, a peroxisomal biogenesis disorder was suspected owing to an exome sequencing which, on being critically analysed together with the clinical features and the biochemical findings, made a peroxisomal disease very unlikely. In cases of clinical suspicion, backed up by neuroimaging, the main diagnostic management must be based on the biochemistry analysis. Although confirmation is molecular, these tests must be interpreted with caution.

TITLE: Importancia de la semiologia y la bioquimica en el abordaje diagnostico de un trastorno de la biogenesis peroxisomica.Introduccion. Los trastornos de la biogenesis de los peroxisomas se deben a mutaciones en los genes PEX, que codifican peroxinas requeridas para la biogenesis peroxisomica. Clinicamente se expresan como un espectro del sindrome de Zellweger, y hay una amplia variedad fenotipica. Su diagnostico se realiza bioquimicamente y la confirmacion es molecular. El objetivo de este caso ilustrativo es resaltar la importancia de la clinica y de las pruebas bioquimicas en el abordaje de una enfermedad peroxisomica. Caso clinico. Niño de 3 años con hipotonia neonatal, retraso global del desarrollo y fallo de medro, con un patron en resonancia cerebral de leucodistrofia hipomielinizante, en quien se habia sospechado un trastorno de la biogenesis de los peroxisomas por encontrarse una variante de significado incierto en PEX5, pero su clinica, los estudios bioquimicos y el analisis critico de las pruebas moleculares hacian improbable este diagnostico. Se hace enfasis en el abordaje que deberia tenerse cuando se sospecha un trastorno del espectro del sindrome de Zellweger. Conclusion. En el caso descrito se sospecho un trastorno de la biogenesis de los peroxisomas por una secuenciacion exomica que, al analizarse criticamente junto con la clinica y los hallazgos bioquimicos, hacia muy poco probable una enfermedad peroxisomica. Cuando se tiene sospecha clinica y por neuroimagenes, el abordaje diagnostico principal debe partir del analisis bioquimico. Aunque la confirmacion es molecular, estas pruebas deben interpretarse con precaucion.

Haemodynamic response and effectiveness of tracheal intubation with Airtraq® versus Macintosh laryngoscope in paediatric patient undergoing elective surgery: Prospective, randomised and blind clinical trial. / Respuesta hemodinámica y efectividad de la intubación orotraqueal con Airtraq® versus laringoscopio Macintosh en pacientes pediátricos sometidos a cirugía electiva: estudio prospectivo, aleatorizado y ciego.

OBJECTIVE: To compare the haemodynamic response and effectiveness of tracheal intubation with Airtraq® device and Macintosh laryngoscope, for airway management of patients between 2 and 8 years undergoing elective surgery. METHODS: A prospective, comparative, randomised and blind clinical trial where the effectiveness of tracheal intubation in 80 paediatric patients undergoing elective surgery was determined. Patients were divided into 2 groups of 40 subjects each: group A, intubated with Airtraq® optical laryngoscope; and group M, intubated with Macintosh laryngoscope. Haemodynamic changes, time and number of attempts at intubation and its complications were evaluated in both. RESULTS: Heart rate was higher in group M from minute 1 to 5 with statistically significant difference (p: .001). The mean, systolic and diastolic blood pressure and EtCO2 values were higher in group M. There were no statistically significant differences in SO2. There was a statistically significant difference in time (group A: 18 ± 4seconds, group M: 27 ± 7seconds) and the number of attempts for intubation were lower for group A (p: .001). Seven patients in group M had post-intubation complications while only one subject had in group A. CONCLUSION: Intubation with Airtraq® device is more effective than Macintosh laryngoscope in terms of reduction of haemodynamic changes, SO2, EtCO2, time and number of attempts for intubation and complications in paediatric patients undergoing elective surgery.

[Heparan sulphates, amyloidosis and neurodegeneration]. / Heparan sulfatos, amiloidosis y neurodegeneracion.

INTRODUCTION: A number of neurodegenerative disorders have been linked directly to the accumulation of amyloid fibres. These fibres are made up of proteins or peptides with altered structures and which join together in vivo in association with heparan sulphate-type polysaccharides. AIMS: To examine the most recent concepts in the biology of heparan sulphates and their role in the aggregation of the peptide Abeta, of tau protein, of alpha-synuclein and of prions. The study also seeks to analyse their implications in neurodegenerative disorders such as Alzheimer's and Parkinson's disease and prion diseases. DEVELOPMENT: In vitro, heparan sulphates have played an important role in the process of oligomerisation and fibrillation of amyloidogenic proteins or peptides, in the stabilisation of these bodies and their resistance to proteolysis, thereby participating in the formation of a wide range of amyloid fibres. Heparan sulphates have also been related to the internalisation of pro-amyloid fibres during the process of intercellular propagation (spreading), which is considered to be crucial in the development of proteinopathies, the best example of which is Alzheimer's disease. CONCLUSION: This study suggests that the fine structures of heparan sulphates, their localisation in cells and tissues, together with their local concentration, may regulate the amyloidosis processes. The advances made in the understanding of this area of glyconeurobiology will make it possible to improve the understanding of the cell and molecular mechanisms underlying the neurodegenerative process.

TITLE: Heparan sulfatos, amiloidosis y neurodegeneracion.Introduccion. Numerosos trastornos neurodegenerativos se han asociado directamente a la acumulacion de fibras amiloides. Estas fibras estan formadas por proteinas o peptidos con conformaciones alteradas y que se agregan in vivo en asociacion con polisacaridos de tipo heparan sulfatos. Objetivos. Examinar los conceptos mas recientes sobre la biologia de los heparan sulfatos y su papel en la agregacion del peptido Abeta, de la proteina tau, de la alfa-sinucleina y de los priones, y analizar sus implicaciones en trastornos neurodegenerativos como las enfermedades de Alzheimer y de Parkinson y las enfermedades prionicas. Desarrollo. In vitro, los heparan sulfatos han desempeñado un papel importante en el proceso de oligomerizacion y fibrilacion de proteinas o peptidos amiloidogenos, en la estabilizacion de estos cuerpos y su resistencia a la proteolisis, participando asi en la formacion de una gran variedad de fibras amiloides. Los heparan sulfatos se han relacionado tambien con el proceso de internalizacion de fibras proamiloides durante el proceso de propagacion intercelular (spreading) considerado como central en la evolucion de las proteinopatias, cuyo mejor ejemplo es la enfermedad de Alzheimer. Conclusion. Este trabajo sugiere que las estructuras finas de los heparan sulfatos, sus localizaciones celulares y tisulares, asi como sus concentraciones locales, pueden regular los procesos de amiloidosis. Avances en la comprension de esta area de la gliconeurobiologia permitiran mejorar la comprension de los mecanismos celulares y moleculares del proceso neurodegenerativo.