Mitochondrial Diabetes in Children: Seek and You Will Find It

Maternally Inherited Diabetes and Deafness (MIDD) is a rare form of diabetes due to defects in mitochondrial DNA (mtDNA). 3243 A>G is the mutation most frequently associated with this condition, but other mtDNA variants have been linked with a diabetic phenotype suggestive of MIDD. From 1989 to 2009, we clinically diagnosed mitochondrial diabetes in 11 diabetic children. Diagnosis was based on the presence of one or more of the following criteria: 1) maculopathy; 2) hearing impairment; 3) maternal heritability of diabetes/impaired fasting glucose and/or hearing impairment and/or maculopathy in three consecutive generations (or in two generations if 2 or 3 members of a family were affected). We sequenced the mtDNA in the 11 probands, in their mothers and in 80 controls. We identified 33 diabetes-suspected mutations, 1/33 was 3243A>G. Most patients (91%) and their mothers had mutations in complex I and/or IV of the respiratory chain. We measured the activity of these two enzymes and found that they were less active in mutated patients and their mothers than in the healthy control pool. The prevalence of hearing loss (36% vs 75–98%) and macular dystrophy (54% vs 86%) was lower in our mitochondrial diabetic adolescents than reported in adults. Moreover, we found a hitherto unknown association between mitochondrial diabetes and celiac disease. In conclusion, mitochondrial diabetes should be considered a complex syndrome with several phenotypic variants. Moreover, deafness is not an essential component of the disease in children. The whole mtDNA should be screened because the 3243A>G variant is not as frequent in children as in adults. In fact, 91% of our patients were mutated in the complex I and/or IV genes. The enzymatic assay may be a useful tool with which to confirm the pathogenic significance of detected variants

The caribbean coastal marine productivity program (CARICOMP)

CARICOMP is a regional scientific program to study land-sea interaction processes in the Caribbean coastal zone. It has been collecting data since 1992, when a Data Management Centre was established at the University of the West Indies in Jamaica. Initially it focuses on documenting the structure and productivity of major coastal communities (mangrove forests, seagrass meadows and coral reefs) at relatively undisturbed sites in diverse physical settings. Second, by regular recording of physical and biological parameters, it monitors for change, seeking to distinguish natural from anthropogenic disturbance. Third, it constitutes a regional network of observers, able to collaborate on studies of region-wide events. Examples are presented of the diverse data sets collected by the Program.Fil: Alcolado, Pedro M.. Instituto de Oceanología; CubaFil: Alleng, Gerard. No especifíca;Fil: Bonair, Kurt. No especifíca;Fil: Bone, David. Universidad Simón Bolívar; VenezuelaFil: Buchan, Kenneth. No especifíca;Fil: Bush, Phillippe G.. Protection and Conservation Unit; Islas CaimánFil: De Meyer, Kalli. No especifíca;Fil: Garcia, Jorge R.. Universidad de Puerto Rico; Puerto RicoFil: Garzón Ferreira, Jaime. Instituto de Investigaciones Marinas y Costeras; ColombiaFil: Gayle, Peter M. H.. Discovery Bay Marine Laboratory; JamaicaFil: Gerace, Donald T.. Bahamian Field Station; BahamasFil: Geraldes, Francisco X.. Universidad Autonoma de Santo Domingo.; República DominicanaFil: Dahlgren, Eric Jordán. Universidad Nacional Autónoma de México; MéxicoFil: Kjferve, Björn. University of South Carolina; Estados UnidosFil: Klein, Eduardo. Universidad Simón Bolívar; VenezuelaFil: Koltes, Karen. Smithsonian Institution; Estados UnidosFil: Laydoo, Richard S.. No especifíca;Fil: Linton, Dulcie M.. University of the West Indies ; JamaicaFil: Ogden, John C.. Florida Institute of Oceanography; Estados UnidosFil: Oxenford, Hazel A.. McGill University; BarbadosFil: Parker, Christoph. McGill University; BarbadosFil: Penchaszadeh, Pablo Enrique. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Museo Argentino de Ciencias Naturales "Bernardino Rivadavia"; ArgentinaFil: Pors, Leon P. P. J.. Universidad Simón Bolívar; VenezuelaFil: Ramírez Ramírez, Javier. Instituto Politécnico Nacional. Centro de Investigación y de Estudios Avanzados. Departamento de Física; MéxicoFil: Ruiz Rentería, Francisco. Universidad Nacional Autónoma de México; MéxicoFil: Ryan, Joseph D.. Centro de Investigación y Documentación de la Costa Atlántica; NicaraguaFil: Smith, Struan R.. Bermuda Biological Station for Research; BermudasFil: Tschirky, John. Latin American and Caribbean Division; Estados UnidosFil: Varela, Ramon. Estación de Investigaciones Marinas de Margarita; VenezuelaFil: Walker, Susan. No especifíca;Fil: Weil, Ernesto. Universidad de Puerto Rico; Puerto RicoFil: Wiebe, William J.. University of Georgia; Estados UnidosFil: Woodley, Jeremy D.. University of the West Indies; JamaicaFil: Zieman, Joseph C.. University of Virginia; Estados Unido

Prevalence, and associated risk factors, of self-reported diabetes mellitus in a sample of adult urban population in Greece: MEDICAL Exit Poll Research in Salamis (MEDICAL EXPRESS 2002)

BACKGROUND: The continuous monitoring and future prediction of the growing epidemic of diabetes mellitus worldwide presuppose consistent information about the extent of the problem. The aim of this study was to determine the prevalence of diagnosed diabetes and to identify associated risk factors in a sample of adult urban Greek population. METHODS: A cross-sectional population-based survey was conducted in municipality of Salamis, Greece, during an election day (2002). The study sample consisted of 2805 participants, aged 20–94 years. Data were collected using a standardized short questionnaire that was completed by a face-to-face interview. Multiple regression analyses were performed to evaluate the association of diabetes with potential risk factors. RESULTS: The overall prevalence of diagnosed diabetes was 8.7% (95% CI 7.7–9.8%). After age adjustment for the current adult population (2001 census) of Greece, the projection prevalence was calculated to 8.2%. Multivariate logistic regression analysis identified as independent risk factors: increasing age (odds ratio, OR = 1.07, 95% CI 1.06–1.08), male sex (OR = 1.43, 95% CI 1.04–1.95), overweight and obesity (OR = 1.97, 95% CI 1.29–3.01 and OR = 3.76, 95% CI 2.41–5.86, respectively), family history of diabetes (OR = 6.91, 95% CI 5.11–9.34), hypertension (OR = 2.19, 95% CI 1.60–2.99) and, among women, lower educational level (OR = 2.62, 95% CI 1.22–5.63). The prevalence of overweight and obesity, based on self-reported BMI, were 44.2% and 18.4%, respectively. Moreover, the odds for diabetes in obese subjects with family history were 25-fold higher than those with normal weight and without family history of diabetes, while the odds in overweight subjects with family history of diabetes were 15-fold higher. CONCLUSIONS: Our findings indicated that the prevalence of diabetes is high in Greek population. It is suggested that the main modifiable contributing factor is obesity, whose effect is extremely increased upon positive heredity presence

Environmental Shaping of Sponge Associated Archaeal Communities

Archaea are ubiquitous symbionts of marine sponges but their ecological roles and the influence of environmental factors on these associations are still poorly understood.We compared the diversity and composition of archaea associated with seawater and with the sponges Hymeniacidon heliophila, Paraleucilla magna and Petromica citrina in two distinct environments: Guanabara Bay, a highly impacted estuary in Rio de Janeiro, Brazil, and the nearby Cagarras Archipelago. For this we used metagenomic analyses of 16S rRNA and ammonia monooxygenase (amoA) gene libraries. Hymeniacidon heliophila was more abundant inside the bay, while P. magna was more abundant outside and P. citrina was only recorded at the Cagarras Archipelago. Principal Component Analysis plots (PCA) generated using pairwise unweighted UniFrac distances showed that the archaeal community structure of inner bay seawater and sponges was different from that of coastal Cagarras Archipelago. Rarefaction analyses showed that inner bay archaeaoplankton were more diverse than those from the Cagarras Archipelago. Only members of Crenarchaeota were found in sponge libraries, while in seawater both Crenarchaeota and Euryarchaeota were observed. Although most amoA archaeal genes detected in this study seem to be novel, some clones were affiliated to known ammonia oxidizers such as Nitrosopumilus maritimus and Cenarchaeum symbiosum.The composition and diversity of archaeal communities associated with pollution-tolerant sponge species can change in a range of few kilometers, probably influenced by eutrophication. The presence of archaeal amoA genes in Porifera suggests that Archaea are involved in the nitrogen cycle within the sponge holobiont, possibly increasing its resistance to anthropogenic impacts. The higher diversity of Crenarchaeota in the polluted area suggests that some marine sponges are able to change the composition of their associated archaeal communities, thereby improving their fitness in impacted environments

Tolerance of sponge assemblages to temperature anomalies: resilience and proliferation of sponges following the 1997-8 El-Niño southern oscillation.

Coral reefs across the world are under threat from a range of stressors, and while there has been considerable focus on the impacts of these stressors on corals, far less is known about their effect on other reef organisms. The 1997-8 El-Niño Southern Oscillation (ENSO) had notable and severe impacts on coral reefs worldwide, but not all reef organisms were negatively impacted by this large-scale event. Here we describe how the sponge fauna at Bahia, Brazil was influenced by the 1997-8 ENSO event. Sponge assemblages from three contrasting reef habitats (reef tops, walls and shallow banks) at four sites were assessed annually from 1995 to 2011. The within-habitat sponge diversity did not vary significantly across the study period; however, there was a significant increase in density in all habitats. Multivariate analyses revealed no significant difference in sponge assemblage composition (ANOSIM) between pre- and post-ENSO years for any of the habitats, suggesting that neither the 1997-8 nor any subsequent smaller ENSO events have had any measurable impact on the reef sponge assemblage. Importantly, this is in marked contrast to the results previously reported for a suite of other taxa (including corals, echinoderms, bryozoans, and ascidians), which all suffered mass mortalities as a result of the ENSO event. Our results suggest that of all reef taxa, sponges have the potential to be resilient to large-scale thermal stress events and we hypothesize that sponges might be less affected by projected increases in sea surface temperature compared to other major groups of reef organisms

Marine Biodiversity in the Caribbean: Regional Estimates and Distribution Patterns

This paper provides an analysis of the distribution patterns of marine biodiversity and summarizes the major activities of the Census of Marine Life program in the Caribbean region. The coastal Caribbean region is a large marine ecosystem (LME) characterized by coral reefs, mangroves, and seagrasses, but including other environments, such as sandy beaches and rocky shores. These tropical ecosystems incorporate a high diversity of associated flora and fauna, and the nations that border the Caribbean collectively encompass a major global marine biodiversity hot spot. We analyze the state of knowledge of marine biodiversity based on the geographic distribution of georeferenced species records and regional taxonomic lists. A total of 12,046 marine species are reported in this paper for the Caribbean region. These include representatives from 31 animal phyla, two plant phyla, one group of Chromista, and three groups of Protoctista. Sampling effort has been greatest in shallow, nearshore waters, where there is relatively good coverage of species records; offshore and deep environments have been less studied. Additionally, we found that the currently accepted classification of marine ecoregions of the Caribbean did not apply for the benthic distributions of five relatively well known taxonomic groups. Coastal species richness tends to concentrate along the Antillean arc (Cuba to the southernmost Antilles) and the northern coast of South America (Venezuela – Colombia), while no pattern can be observed in the deep sea with the available data. Several factors make it impossible to determine the extent to which these distribution patterns accurately reflect the true situation for marine biodiversity in general: (1) highly localized concentrations of collecting effort and a lack of collecting in many areas and ecosystems, (2) high variability among collecting methods, (3) limited taxonomic expertise for many groups, and (4) differing levels of activity in the study of different taxa

Lymphatic Clearance of the Brain: Perivascular, Paravascular and Significance for Neurodegenerative Diseases

The lymphatic clearance pathways of the brain are different compared to the other organs of the body and have been the subject of heated debates. Drainage of brain extracellular fluids, particularly interstitial fluid (ISF) and cerebrospinal fluid (CSF), is not only important for volume regulation, but also for removal of waste products such as amyloid beta (A?). CSF plays a special role in clinical medicine, as it is available for analysis of biomarkers for Alzheimer’s disease. Despite the lack of a complete anatomical and physiological picture of the communications between the subarachnoid space (SAS) and the brain parenchyma, it is often assumed that A? is cleared from the cerebral ISF into the CSF. Recent work suggests that clearance of the brain mainly occurs during sleep, with a specific role for peri- and para-vascular spaces as drainage pathways from the brain parenchyma. However, the direction of flow, the anatomical structures involved and the driving forces remain elusive, with partially conflicting data in literature. The presence of A? in the glia limitans in Alzheimer’s disease suggests a direct communication of ISF with CSF. Nonetheless, there is also the well-described pathology of cerebral amyloid angiopathy associated with the failure of perivascular drainage of A?. Herein, we review the role of the vasculature and the impact of vascular pathology on the peri- and para-vascular clearance pathways of the brain. The different views on the possible routes for ISF drainage of the brain are discussed in the context of pathological significance