Two novel frame shift, recurrent and de novo mutations in the ITGB2 (CD18) gene causing leukocyte adhesion deficiency in a highly inbred North African population

We have identified four different mutations causing leukocyte adhesion deficiency (LAD) in the ITGB2 gene of patients from a highly inbred population. Two were novel single-bp deletions (1497delG and 1920delG) causing frame shift and the two others were the missense mutations G284S and R593C. In our study, the G284S was a recurrent mutation while the R593C occurred de novo. We have also characterized a novel Xba1 polymorphic site located at the 5′ end of the ITGB2 locus. Family studies showed that the 1497delG mutation segregated with this marker and the intragenic AvaII polymorphic marker, suggesting the presence of a founder effect. The observation of a heterogeneous spectrum including de novo and recurrent mutations causing LAD in a highly inbred population is rather unexpected. In view of the literature published on the molecular genetics of LAD and considering the ethnic origin of the patients studied, our findings confirm the heterogeneity of the mutations causing LAD and point out potential mutational hot spots in the ITGB2 gene

Hereditary sensory neuropathy type I

Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterised by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset. The exact prevalence is unknown, but is estimated as very low. Disease onset varies between the 2nd and 5th decade of life. The main clinical feature of HSN I is the reduction of sensation sense mainly distributed to the distal parts of the upper and lower limbs. Variable distal muscle weakness and wasting, and chronic skin ulcers are characteristic. Autonomic features (usually sweating disturbances) are invariably observed. Serious and common complications are spontaneous fractures, osteomyelitis and necrosis, as well as neuropathic arthropathy which may even necessitate amputations. Some patients suffer from severe pain attacks. Hypacusis or deafness, or cough and gastrooesophageal reflux have been observed in rare cases. HSN I is a genetically heterogenous condition with three loci and mutations in two genes (SPTLC1 and RAB7) identified so far. Diagnosis is based on the clinical observation and is supported by a family history. Nerve conduction studies confirm a sensory and motor neuropathy predominantly affecting the lower limbs. Radiological studies, including magnetic resonance imaging, are useful when bone infections or necrosis are suspected. Definitive diagnosis is based on the detection of mutations by direct sequencing of the SPTLC1 and RAB7 genes. Correct clinical assessment and genetic confirmation of the diagnosis are important for appropriate genetic counselling and prognosis. Differential diagnosis includes the other hereditary sensory and autonomic neuropathies (HSAN), especially HSAN II, as well as diabetic foot syndrome, alcoholic neuropathy, neuropathies caused by other neurotoxins/drugs, immune mediated neuropathy, amyloidosis, spinal cord diseases, tabes dorsalis, lepra neuropathy, or decaying skin tumours like amelanotic melanoma. Management of HSN I follows the guidelines given for diabetic foot care (removal of pressure to the ulcer and eradication of infection, followed by the use of specific protective footwear) and starts with early and accurate counselling of patients about risk factors for developing foot ulcerations. The disorder is slowly progressive and does not influence life expectancy but is often severely disabling after a long duration of the disease

¿En qué medida la grasa de la merluza y la calidad de su aceite están influenciados por el parásito Lernaeocera lusci?

The copepod Lernaeosera lusci is a common ectoparasite of the hake Merluccius merluccius, which constitutes its definitive host. The present study is the first to investigate the impact of L. lusci and its infection intensity on the fatty acid (FA) composition and oil quality of its host. The results revealed a substantial decrease in the total FA content, which dropped by 50, 70 and 83% when fish was infected by one (L1), two (L2) and three (L3) parasites, respectively. The lipid profile showed a tendency for a significant decrease in the saturated fatty acid (SFA), monounsaturated fatty acid (MUFA) and polyunsaturated fatty acid (PUFA) levels in all parasitized groups and in a parasite load dependant manner (p < 0.05). The same tendency was observed for the most commonly analysed FA and in particular for essential FA, such as e arachidonic (ARA), eicosapentaenoic (EPA) and docosahexaenoic (DHA) acids, which showed smaller amounts associated with L. lusci co-infection. From a nutritional standpoint, our findings revealed that L. lusci is able to cause severe deterioration in the nutritional quality of its host oil. In addition to the increase in the thrombogenicity index (IT) and the high atherogenicity index (IA) values, the low hypocholesterolemic / hypercholesterolemic fatty acid ratio (H/H) and the modest amount of DHA+EPA (20 and 10 mg/100g) recorded at heavy infection levels make the parasitized fish inadequate sources of these PUFA and unsuitable for consumers with special dietary needs.El copépodo Lernaeosera lusci es un ectoparásito común de la merluza Merluccius merluccius que constituye su huésped definitivo. El presente estudio es el primero en investigar el impacto de L. lusci, considerando la intensidad de la infección, la composición de ácidos grasos (FA) y la calidad del aceite de su huésped. Los resultados mostraron una disminución sustancial en el contenido total de FA que se redujo en 50, 70 y 83% cuando el pez se infecta con uno (L1), dos (L2) y tres (L3) parásitos, respectivamente. El perfil lipídico mostró una tendencia a una disminución significativa en los niveles de ácidos grasos saturados (SFA), ácidos grasos monoinsaturados (MUFA) y ácidos grasos poliinsaturados (PUFA) en todos los grupos parasitados y de una manera dependiente de la carga parasitaria (p < 0.05). Se observó la misma tendencia para la mayoría de los FA y, en particular, para los FA esenciales como los ácidos araquidónico (ARA), eicosapentaenoico (EPA) y docosahexaenoico (DHA), que mostraron cantidades reducidas asociadas con la coinfección por L. lusci. Desde un punto de vista nutricional, nuestro descubrimiento reveló que L. lusci es capaz de causar un deterioro severo de la calidad nutricional de su aceite huésped. Además del aumento del índice de trombogenicidad (IT) y valores de índice de aterogenicidad (IA) alto, una relación hipocolesterolemia/hipercolesterolemia (H/H) baja y una cantidad modesta de DHA + EPA (20 y 10 mg)/100 g) registrados en infecciones graves hacen que los peces parasitados sean fuentes inadecuadas de PUFA y no sean adecuados para consumidores con necesidades dietéticas especiales

Primera investigación sobre el perfil de ácidos grasos de Mactra corallina (Bivalvia, Mactridae) de la costa norte de Túnez

This study reveals information for the first time about the total lipid (TL) content and fatty acid composition (FA) of Mactra stultorum (M. corallina). Three edible organs (foot, mantle and adductor muscle) were the subjects of this research in order to determine the most favorable periods for their consumption in relation to seasonal variability. The results showed lower lipid content in the adductor muscles in summer (12.73 ± 2.55 mg/g dry matter); while a higher content was observed in winter (28.97 ± 3.50 mg/g dry matter). However, similar lipid contents were observed in the mantle and foot tissues among the seasons. The fatty acid composition of Mactra stultorum adductor muscles, mantle and foot was dominated by saturated fatty acids (SFA) and polyunsaturated fatty acids (PUFA). Palmitic acid (16:0) was the major saturated fatty acid (SFA) and reached higher levels during summer in the foot (26%), mantle (21%) and adductor muscles (25%). Among PUFA, eicosapentaenoic acid (EPA, 20:5n-3) and docosahexaenoic acid (DHA, 22:6n-3) showed significant variation among seasons with high levels recorded during winter and spring. Monounsaturated fatty acids (MUFA) did not show any remarkable variation among seasons for the three studied tissues. Seasonal changes in fatty acids were observed for all samples, reaching a maximum level in winter or spring.Este estudio proporcionó información por primera vez sobre el contenido total de lípidos (TL) y la composición de ácidos grasos (AG) Mactra stultorum (M. corallina). Tres órganos comestibles (pie, manto y músculo aductor) son el objeto de esta investigación para determinar los períodos más favorables para su consumo en relación con la variabilidad estacional. Los resultados mostraron niveles más bajos de lípidos en los músculos aductores en verano (12,73 ± 2,55 mg/g de materia seca), mientras que en invierno se observó un mayor contenido (28,97 ± 3,50 mg/g de materia seca). Sin embargo, se observaron contenidos similares de lípidos en los tejidos del manto y el pie entre las estaciones. La composición grasa de los músculos aductores Mactra stultorum, el manto y el pie estuvo dominada por ácidos grasos saturados (AGS) y ácidos grasos poliinsaturados (AGPI). El ácido palmítico (16:0) fue el principal ácido graso saturado (AGS) alcanzando niveles más altos durante el verano en pie (26%), el manto (21%) y los músculos aductores (25%). Entre los ácidos grasos poliinsaturados (AGPI), el ácido eicosapentaenoico (EPA, 20:5n-3) y ácido docosahexaenoico (DHA, 22:6n-3), han mostrado una variación significativa entre las estaciones, con niveles altos registrados durante el invierno y la primavera. Mientras que, los ácidos grasos monoinsaturados (AGMI) no mostraron ninguna variación notable entre las estaciones para los tres tejidos estudiados. Se pueden observar cambios estacionales de los ácidos grasos para todas las muestras que alcanzan un nivel máximo en invierno o primavera

Variación geográfica en la composición de ácidos grasos y fuente de alimento de la almeja comercial (Venerupis decussata, Linnaeus, 1758), de las costas tunecinas: cadenas tróficas

Lake and coastal Tunisian areas are rich biodiversity habitats, although little information is available about the distribution of food sources for the inhabitant species. In this study, a fatty acid analysis was used to study the trophic ecology of Venerupis decussatac ommunities from 10 sites located along the Tunisian Coast. The richest population in fatty acids was found in S4 followed by S5 and S8, while that of S1, S3 and S10 were the least rich. Results from multivariate analysis confirmed the ecological position of the studied population based on their fatty acid composition. Our results divided the ten studied populations into three similar groups according to their ecological and geographical positions in relation to environmental parameters and food and trophic links. A principal component analysis revealed that diatoms and dinoflagellates were the predominate diets in all the sampling stations. Bacteria and urban discharge dominated the dietary source of clams from S10 and S9. Zooplankton were the preferred diet of V. decussata harvested from the two S2 and S3 lakes; although green algae, phytoplankton and detritus were absent from the dietary source of the two previous populations. Despite spatial differences, clams from the north and the south could be easily distinguished from each other, which indicates the utility of this method in the dietary analysis of different food chain links. This study proves that geographic, ecologic and abiotic factors as well as their mutual interaction should be properly investigated in studies focusing on the trophic chains of aquatic ecosystems.Los lagos y las zonas costeras de Túnez son ricos en hábitats de biodiversidad. Sin embargo, hay poca información disponible sobre la distribución de las fuentes de alimentos para las especies residentes. En este trabajo se utilizó el análisis de ácidos grasos para estudiar la ecología trófica de las comunidades de Venerupis decussata de 10 localizaciones a lo largo de las costas tunecinas. La población más rica en ácidos grasos se encontró en S4 seguida de S5 y S8, mientras que la de S1, S3 y S10 fueron las menos ricas. Los resultados del análisis multivariante confirmaron la posición ecológica de la población estudiada en función de su composición de ácidos grasos. Nuestros resultados dividieron las diez poblaciones estudiadas en tres grupos similares según sus posiciones ecológicas y geográficas en relación con los parámetros ambientales y con los enlaces tróficos y alimentarios. El análisis de los componentes principales reveló que las dietas predominantes eran las diatomeas y los dinoflagelados en todas las estaciones de muestreo. Mientras que, las bacterias y la descarga urbana dominaron la fuente dietética de almejas de S10 y S9. Sin embargo, el zooplancton fue la dieta preferida de V. decussata cosechada de los dos lagos S2 y S3; las algas verdes, el fitoplancton y los detritos estaban ausentes en la fuente dietética de las dos poblaciones anteriores. A pesar de las diferencias espaciales, las almejas del norte y del sur se pueden distinguir fácilmente entre sí, lo que indica la utilidad de este método en el análisis dietético de los diferentes enlaces de la cadena alimentaria. Este estudio demuestra que los factores geográficos, ecológicos y abióticos, así como su interacción mutua deben investigarse adecuadamente en estudios centrados en las cadenas tróficas de los ecosistemas acuáticos

Cambios en la composición de los ácidos grasos y evaluación de la oxidación de lípidos y proteínas en almejas comerciales (Ruditapes decussatus) cocinadas

This study aimed to provide information about the changes in fatty acid composition and quality in Ruditapes decussatus tissue after four culinary treatments (steamed, baked, grilled and fried). All treated samples showed a significant decrease in moisture and protein. In contrast, a significant increase in fat content resulted from the grilled and fried treatments. Saturated fatty acid was significantly higher in fresh clams than all cooking processes, except in fried ones. Monounsaturated fatty acid and polyunsaturated fatty acid varied significantly between fresh and cooked clams with high values recorded for fried clams. The n-3/n-6 ratio, peroxide index, EPA+DHA and atherogenicity index decreased significantly after the cooking processes particularly in fried clams. The mineral levels (Mg, Ca and Mn) of cooked clams decreased considerably with grilled and fried treatments. The impacts of cooking on the fatty acid composition and protein content in clam tissue was evaluated by lipid peroxidation (TBARS, PV, FFA, TOR) and protein oxidation (AOPP and PCO), which varied statistically in fried, steamed, grilled and baked samples; indicating alterations in cooked clam tissues structure. Based on our results, steaming is recommended for the preparation of clams because it preserves the most nutritional tissue quality.El presente estudio tuvo como objetivo proporcionar información innovadora sobre los cambios en la composición y calidad de los ácidos grasos presentes en el tejido de Ruditapes decussatus tras cuatro tratamientos culinarios distintos (vapor, horno, parrilla y fritura). Todas las muestras tratadas mostraron una disminución significativa en el contenido de humedad y proteínas. Por el contrario, los tratamientos a la parrilla y frito resultaron en un aumento significativo de la cantidad de grasa. El contenido en ácidos grasos saturados fue significativamente mayor en las almejas frescas comparado con todas las almejas cocinadas, a excepción de las fritas. Los ácidos grasos mono- y poliinsaturados variaron significativamente entre las almejas frescas y cocinadas, mostrando el valor más alto en las almejas fritas. La relación n-3/n-6, el índice de peróxidos, el contenido de EPA + DHA y el índice de aterogenicidad disminuyeron significativamente después de todos los procesos de cocción, especialmente en las almejas fritas. Los niveles de minerales (Mg, Ca y Mn) de las almejas cocinadas disminuyeron considerablemente tras los tratamientos a la parrilla y frito. El impacto del cocinado sobre la calidad de los ácidos grasos y las proteínas se evaluó mediante la medida de la peroxidación de lípidos (TBARS, PV, FFA, TOR) y la oxidación de proteínas (AOPP y PCO), valores que variaron significativamente en las muestras fritas, al vapor, a la parrilla y al horno, indicando una alteración de la estructura de los tejidos de la almeja cocinada. De acuerdo a los resultados obtenidos, se recomienda la cocción al vapor para la preparación de las almejas, ya que es el tratamiento que mejor preserva calidad nutricional de los tejidos

How early can myocardial iron overload occur in Beta thalassemia major?

BACKGROUND: Myocardial siderosis is the most common cause of death in patients with beta thalassemia major(TM). This study aimed at investigating the occurrence, prevalence and severity of cardiac iron overload in a young Chinese population with beta TM. METHODS AND RESULTS: We analyzed T2* cardiac magnetic resonance (CMR), left ventricular ejection fraction (LVEF) and serum ferritin (SF) in 201 beta TM patients. The median age was 9 years old. Patients received an average of 13 units of blood per year. The median SF level was 4536 ng/ml and 165 patients (82.1%) had SF>2500 ng/ml. Myocardial iron overload was detected in 68 patients (33.8%) and severe myocardial iron overload was detected in 26 patients (12.6%). Twenty-two patients ≤10 years old had myocardial iron overload, three of whom were only 6 years old. No myocardial iron overload was detected under the age of 6 years. Median LVEF was 64% (measured by CMR in 175 patients). Five of 6 patients with a LVEF<56% and 8 of 10 patients with cardiac disease had myocardial iron overload. CONCLUSIONS: The TM patients under follow-up at this regional centre in China patients are younger than other reported cohorts, more poorly-chelated, and have a high burden of iron overload. Myocardial siderosis occurred in patients younger than previously reported, and was strongly associated with impaired LVEF and cardiac disease. For such poorly-chelated TM patients, our data shows that the first assessment of cardiac T2* should be performed as early as 6 years old

Parvovirus B19 infection in Tunisian patients with sickle-cell anemia and acute erythroblastopenia

<p>Abstract</p> <p>Background</p> <p>Human parvovirus B19 is the etiologic agent of erythema infectiosum in children. It is also associated with other clinical manifestations in different target groups. Patients with chronic hemolytic anemia are at high risk of developing acute erythroblastopenia following infection by the virus. They usually become highly viremic and pose an increased risk of virus transmission. Close monitoring of such high risk groups is required for epidemiologic surveillance and disease prevention activities. Here we report a molecular epidemiological study on B19 virus infection in Tunisian patients with chronic hemolytic anemia.</p> <p>Methods</p> <p>This study was conducted on 92 young chronic hemolytic anemia patients who attended the same ward at the National Bone Marrow Transplantation Center of Tunis and 46 controls from a different hospital. Screening for IgM and IgG anti-B19 antibodies was performed using commercially available enzyme immunoassays and B19 DNA was detected by nested PCR in the overlapping <it>VP1/VP2 </it>region. DNA was sequenced using dideoxy-terminator cycle sequencing technology.</p> <p>Results</p> <p>Anti-parvovirus B19 IgG antibodies were detected in 26 of 46 sickle-cell anemia patients, 18 of 46 β-thalassemia and 7 of 46 controls. Anti-parvovirus B19 IgM antibodies were detected only in 4 of the sickle-cell anemia patients: two siblings and two unrelated who presented with acute erythroblastopenia at the time of blood collection for this study and had no history of past transfusion. B19 DNA was detected only in sera of these four patients and the corresponding 288 bp nested DNA amplicons were sequenced. The sequences obtained were all identical and phylogenetic analysis showed that they belonged to a new B19 virus strain of Genotype1.</p> <p>Conclusion</p> <p>A new parvovirus B19 strain of genotype1 was detected in four Tunisian patients with sickle-cell anemia. Virus transmission appeared to be nosocomial and resulted in acute erythroblastopenia in the four patients. The possibility of independent transmission of this B19 variant to the patients is unlikely in light of the present epidemiological data. However this possibility cannot be ruled out because of the low genetic variability of the virus.</p

Anthropogenic, Direct Pressures On Coastal Wetlands

Coastal wetlands, such as saltmarshes and mangroves that fringe transitional waters, deliver important ecosystem services that support human development. Coastal wetlands are complex social-ecological systems that occur at all latitudes, from polar regions to the tropics. This overview covers wetlands in five continents. The wetlands are of varying size, catchment size, human population and stages of economic development. Economic sectors and activities in and around the coastal wetlands and their catchments exert multiple, direct pressures. These pressures affect the state of the wetland environment, ecology and valuable ecosystem services. All the coastal wetlands were found to be affected in some ways, irrespective of the conservation status. The main economic sectors were agriculture, animal rearing including aquaculture, fisheries, tourism, urbanization, shipping, industrial development and mining. Specific human activities include land reclamation, damming, draining and water extraction, construction of ponds for aquaculture and salt extraction, construction of ports and marinas, dredging, discharge of effluents from urban and industrial areas and logging, in the case of mangroves, subsistence hunting and oil and gas extraction. The main pressures were loss of wetland habitat, changes in connectivity affecting hydrology and sedimentology, as well as contamination and pollution. These pressures lead to changes in environmental state, such as erosion, subsidence and hypoxia that threaten the sustainability of the wetlands. There are also changes in the state of the ecology, such as loss of saltmarsh plants and seagrasses, and mangrove trees, in tropical wetlands. Changes in the structure and function of the wetland ecosystems affect ecosystem services that are often underestimated. The loss of ecosystem services impacts human welfare as well as the regulation of climate change by coastal wetlands. These cumulative impacts and multi-stressors are further aggravated by indirect pressures, such as sea-level rise