Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 26
Filter
Add more filters










Publication year range
1.
Sci Total Environ ; 912: 168804, 2024 Feb 20.
Article in English | MEDLINE | ID: mdl-38036117

ABSTRACT

Brine pools in deep-sea environments provide unique perspectives into planetary and geological processes, extremophile microbial communities, and sedimentary records. The NEOM Brine Pool Complex was the first deep-sea brine pool system found in the Gulf of Aqaba, representing a significant extension of the geographical range and depositional setting of Red Sea brine pools. Here, we use a combination of brine pool samples collected via cast using a conductivity, temperature, depth instrument (CTD), as well as interstitial porewaters extracted from a sediment core collected in the NEOM Brine Pool to characterize the chemical composition and subsurface evolution of the brine. New results indicate that the NEOM brines and the subsurface porewaters may originate from different sources. Elemental concentrations suggest the brines in the NEOM pool are likely derived from dissolution of sub-seabed evaporites. In contrast, the sedimentary porewaters appear to have been influenced by periodic turbidite flows, generated either by earthquakes, submarine landslides, or flash floods, in which normal marine waters from the overlying Red Sea became entrained, periodically disturbing the chemistry of the brine pool. Thus, sediment porewaters beneath brine pools may record transient and dynamic changes in these deep marine depositional environments, reflecting the interplay between climate, tectonics, and sedimentation patterns along a rapidly urbanizing coastline. In concert, new results from NEOM extend the range and chemical constraints on Red Sea Brine Pools and highlight the dynamic interplay between Red Sea Deep water, dissolving evaporites, turbidites, and subsurface fluids that produce these unique depositional environments which host microbial life at the edge of habitability. In concert with sedimentological indicators, the chemistry of porewaters beneath deep-sea brine pools may present detailed records of natural hazards arising from interactions between the atmosphere, lithosphere, hydrosphere, and anthroposphere.

2.
Waste Manag ; 171: 545-556, 2023 Oct 06.
Article in English | MEDLINE | ID: mdl-37806162

ABSTRACT

Sargassum spp. (specifically Sargassum fluitans and S. natans), one of the dominant forms of marine macroalgae (seaweed) found on the beaches of Florida, is washing up on the shores throughout the Caribbean in record quantities. Currently, a common management option is to haul and dispose of beached Sargassum in local landfills, potentially wasting a valuable renewable resource. The objective of this study was to determine whether composting represents a feasible alternative to managing Sargassum inundations through measurements and comparisons to eleven guidelines. Specifically, we assessed the characteristics of the compost [physical-chemical parameters (temperature, moisture content, pH, and conductivity), nutrient ratios (C:N), elemental composition, bacteria levels, and ability to sustain plant growth] in both small- and large scale experiments. Results show that although nutrient concentration ratios were not within the standards outlined by the U.S. Composting Council (USCC), the Sargassum compost was able to sustain the growth of radishes (Raphanus sativus L., var. Champion). Trace metal concentrations in the compost product were within five regulatory guidelines evaluated, except for arsenic (As) (6.64-26.5 mg/kg), which exceeded one of the five (the Florida Soil Cleanup Target Level for residential use). Bacteria levels were consistent with regulatory guidelines for compost produced in large-scale outdoor experiments but not for the small-scale set conducted in enclosed tumblers. Overall results support that Sargassum compost can be beneficially used for fill and some farming applications.

3.
Open Forum Infect Dis ; 10(9): ofad356, 2023 Sep.
Article in English | MEDLINE | ID: mdl-37674633

ABSTRACT

Background: Invasive Group B Streptococcus (GBS) is a common cause of early-onset neonatal sepsis and is also associated with stillbirth. This study aimed to determine the proportion of stillborn infants and infants who died between 0 and 90 days attributable to GBS using postmortem minimally invasive tissue sampling (MITS) in 7 low- and middle-income countries (LMICs) participating in Child Health and Mortality Prevention Surveillance (CHAMPS). Methods: Deaths that occurred between December 2016 and December 2021 were investigated with MITS, including culture for bacteria of blood and cerebrospinal fluid (CSF), multipathogen polymerase chain reaction on blood, CSF, and lung tissue and histopathology of lung, liver, and brain. Data collection included clinical record review and verbal autopsy. Expert panels reviewed all information and assigned causes of death. Results: We evaluated 2966 deaths, including stillborn infants (n = 1322), infants who died during first day of life (0 to <24 hours, n = 597), early neonatal deaths (END) (1 day to <7 days; END; n = 593), and deaths from 7 to 90 days (n = 454). Group B Streptococcus was determined to be in the causal pathway of death for 2.7% of infants (79 of 2, 966; range, 0.3% in Sierra Leone to 7.2% in South Africa), including 2.3% (31 of 1322) of stillbirths, 4.7% (28 of 597) 0 to <24 hours, 1.9% (11 of 593) END, and 2.0% (9 of 454) of deaths from 7 to 90 days of age. Among deaths attributed to GBS with birth weight data available, 61.9% (39 of 63) of decedents weighed <2500 grams at birth. Group B Streptococcus sepsis was the postmortem diagnosis for 100% (31 of 31) of stillbirths. For deaths <90 days, postmortem diagnoses included GBS sepsis (83.3%, 40 of 48), GBS meningitis (4.2%, 2 of 48), and GBS pneumonia (2.1%, 1 of 48). Conclusions: Our study reveals significant heterogeneity in the contribution of invasive GBS disease to infant mortality across different countries, emphasizing the need for tailored prevention strategies. Moreover, our findings highlight the substantial impact of GBS on stillbirths, shedding light on a previously underestimated aspect in LMICs.

4.
Sci Rep ; 12(1): 9278, 2022 Jun 03.
Article in English | MEDLINE | ID: mdl-35661773

ABSTRACT

Diagenetic boundaries are paleo-reaction fronts, which have the potential to archive the termination of metasomatic processes in sedimentary rocks. They have not been extensively studied, perhaps because they appear simple in outcrop. Recent work has demonstrated the significance of paleo-reaction fronts to decipher multiphase recrystallization processes and provide high porosity zones. This paper provides a detailed documentation of reaction front evolution in a tectonically active salt basin and reveals a high level of complexity, associated with multiple fluid flow and tectonic events. Here, consistent patterns of increasing dolomite stoichiometry and ordering, along with a change from seawater-derived, fabric-retentive dolomite to fracture-controlled, fabric-destructive hydrothermal dolomite are observed vertically across the stratabound dolomite bodies. These patterns, coupled with a decrease in porosity, increase in ∆47 temperature and δ18Owater values indicate multiphase recrystallization and stabilization by warm, Mg-rich fluids. The stratabound dolomite bodies apparently terminated at a fracture-bound contact, but the presence of dolomite fragments within the fracture corridor suggests that fracturing post-dated the first dolomitization event. The termination of dolomite formation is therefore interpreted to be associated with a decrease in the capacity of the magnesium-rich fluids to dolomitize the rock, as indicated by the presence of non-stoichiometric and poorly ordered dolomite at the reaction fronts. The fracture corridors are interpreted to exploit dolostone-limestone boundaries, forming prior to a later, higher temperature, hydrothermal dolomitization event, which coincided with the formation and growth of the anticline. Karstification subsequently exploited these fracture corridors, widening fractures and leading to localized collapse and brecciation. The results demonstrate that an apparently simple reaction front can have a complex history, governed by the inheritance of prior diagenetic events. These events modified rock properties in such a way that fluid flow was repeatedly focused along the original dolomite-limestone boundary, overprinting much of its original signature. These findings have implications to the prediction of structurally controlled diagenetic processes and the exploration of naturally fractured carbonate reservoirs for energy exploration globally.

5.
Eur J Case Rep Intern Med ; 9(1): 003115, 2022.
Article in English | MEDLINE | ID: mdl-35169575

ABSTRACT

Paradoxical immune reconstitution inflammatory syndrome (IRIS) in human immunodeficiency virus (HIV)-positive patients initiating antiretroviral treatment (ART) is caused by restored immunity to specific antigens, resulting in worsening of a pre-existing infection. Molluscum contagiosum (MC) is commonly noted in HIV-positive individuals but ART alone is usually sufficient to bring about resolution. We present a rare case of severe MC-IRIS that worsened despite immune reconstitution. LEARNING POINTS: Molluscum contagiosum is a common opportunistic infection which can have severe manifestations in immunocompromised individuals.Antiretroviral treatment alone is usually sufficient to clear the infection, however refractory cases can persist despite immune reconstitution.Failure to improve or worsening immune reconstitution inflammatory syndrome should raise suspicion for additional immunological dysfunction.Surgery, cytodestructive therapies and chemotherapeutic agents can be considered in extensive, persistent disease.

6.
Childs Nerv Syst ; 38(7): 1381-1384, 2022 07.
Article in English | MEDLINE | ID: mdl-34665306

ABSTRACT

Arachnoid cysts (ACs) are malformations that account for about 1% of all intracranial lesions. The aetiology and progression of these lesions have been debated, with one possible explanation being the production of cerebro-spinal fluid (CSF) by ectopic choroid plexus (CP). To our knowledge, only seven cases of ACs incorporating CP have been reported, and we believe this to be the first reported case of a suprasellar AC containing ectopic CP. A 1-year-old boy presented with developmental delay and macrocephaly. MRI scan revealed hydrocephalus due to a suprasellar AC. An endoscopic ventriculocisternostomy was undertaken. Intra-operatively, intra-cystic, pink frond-like tissue resembling choroid plexus was identified. Histologically, the cyst wall was composed of fibrous tissue, with layered arachnoid cells, while the frond-like tissue was composed of papillary structures in keeping with normal choroid plexus tissue. We postulate that the rest of the ectopic CP may have been trapped within the double layered arachnoid fold of the diencephalic leaf of Liliequist's membrane which may drive the formation and development of certain suprasellar ACs.


Subject(s)
Arachnoid Cysts , Hydrocephalus , Arachnoid Cysts/complications , Arachnoid Cysts/diagnostic imaging , Arachnoid Cysts/surgery , Choroid Plexus/diagnostic imaging , Choroid Plexus/surgery , Humans , Hydrocephalus/surgery , Infant , Magnetic Resonance Imaging/adverse effects , Male , Ventriculostomy/adverse effects
7.
Sci Total Environ ; 806(Pt 2): 150565, 2022 Feb 01.
Article in English | MEDLINE | ID: mdl-34582867

ABSTRACT

The distribution of cadmium (Cd) within the oceans strongly suggests that it is used as a nutrient by marine phytoplankton. Biologically induced removal of Cd from modern surface waters is accompanied by an isotopic fractionation leaving surface-waters enriched in isotopically heavy Cd. This first study focusses on tying the Cd isotopic record preserved in modern shallow platform carbonates of the Great Bahama Bank (GBB) to conditions in the upper water column, and provides a base for future studies aiming at reconstructing past bioproductivity levels in ancient ocean/basin surface waters. In addition, we compare δ114Cd values with previously published chromium (Cr) isotope values and link signals of bioproductivity with redox conditions in the surface waters. The GBB core samples yield [Cd] (21-188 µg/kg), which increases with depth alongside changes in carbonate mineralogy related to sediment supply and diagenesis. The δ114Cd values of these carbonates are mainly positively fractionated with an average of 0.11‰ ± 0.17 (2σ; n = 17) relative to the NIST 3108 reference standard. Unlike previously observed for Cr isotopes, there is no control of δ114Cd values by relative abundances of the carbonate polymorphs aragonite and calcite in the studied profile. Likewise, δ114Cd values are not correlated to major and trace element (e.g. Ca, Mg, Mn and Sr) contents. We postulate that the burial and diagenetic processes of carbonate cannot modify the Cd isotope signals. Using the experimental fractionation factor for Cd into calcite (-0.45‰), calculated seawater δ114Cd of +0.56 ± 0.17‰ is in agreement with values for modern North Atlantic Surface Seawater. This study's results suggest that δ114Cd values in carbonates are a reliable tool for reconstruction of bioproductivity levels in past surface seawaters, and open new possibilities in combination with Cr isotopes to link these with past ocean redox.


Subject(s)
Cadmium , Water , Bahamas , Cadmium/analysis , Carbon Isotopes , Carbonates , Chromium Isotopes/analysis , Isotopes
8.
Pediatr Infect Dis J ; 40(9): e323-e332, 2021 09 01.
Article in English | MEDLINE | ID: mdl-34397776

ABSTRACT

BACKGROUND: Globally, very few childhood deaths have been attributed to coronavirus disease 2019 (COVID-19). We evaluated clinical, microbiologic and postmortem histopathologic findings in childhood deaths in whom severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) was identified antemortem or postmortem. METHODS: Surveillance of childhood deaths was ongoing during the initial COVID-19 outbreak in South Africa from April 14, 2020, to August 31, 2020. All children hospitalized during this time had a SARS-CoV-2 test done as part of standard of care. Postmortem sampling included minimally invasive tissue sampling (MITS) of lung, liver and heart tissue; blood and lung samples for bacterial culture and molecular detection of viruses (including SARS-CoV-2) and bacteria. The cause of death attribution was undertaken by a multidisciplinary team and reported using World Health Organization framework for cause of death attribution. RESULTS: SARS-CoV-2 was identified on antemortem and/or postmortem sampling in 11.7% (20/171) of deceased children, including 13.2% (12/91) in whom MITS was done. Eighteen (90%) of 20 deaths with SARS-CoV-2 infection were <12 months age. COVID-19 was attributed in the causal pathway to death in 91.7% (11/12) and 87.5% (7/8) cases with and without MITS, respectively. Lung histopathologic features in COVID-19-related deaths included diffuse alveolar damage (n = 6, 54.5%), type 2 pneumocyte proliferation (n = 6, 54.5%) and hyaline membrane formation (n = 5, 36.4%). Culture-confirmed invasive bacterial disease was evident in 54.5% (6/11) of COVID-19 attributed deaths investigated with MITS. CONCLUSIONS: COVID-19 was in the causal pathway of 10.5% (18/171) of all childhood deaths under surveillance. The postmortem histopathologic features in fatal COVID-19 cases in children were consistent with reports on COVID-19 deaths in adults; although there was a high prevalence of invasive bacterial disease in the children.


Subject(s)
COVID-19/mortality , SARS-CoV-2/isolation & purification , Adolescent , COVID-19/complications , COVID-19/pathology , COVID-19/therapy , Child , Child, Preschool , Female , Gastroenteritis/complications , Humans , Infant , Infant, Newborn , Male , Respiration, Artificial , Respiratory Tract Diseases/complications , Seizures/complications , South Africa/epidemiology
9.
Rapid Commun Mass Spectrom ; 35(17): e9147, 2021 Sep 15.
Article in English | MEDLINE | ID: mdl-34145645

ABSTRACT

RATIONALE: Information on the temperature of formation or alteration of carbonate minerals can be obtained by measuring the abundance of the isotopologues 47 and 48 (Δ47 and Δ48 values) of CO2 released during acid dissolution. The combination of these two proxies can potentially provide a greater insight into the temperature of formation, particularly if the carbonate minerals form by non-equilibrium processes. METHODS: We have precipitated calcium carbonates at seven temperatures between 5 and 65°C and measured their δ48 values using a Thermo-253 plus isotope ratio mass spectrometer. The values were transformed to Δ48 values in the conventional manner and then converted to the carbon dioxide equilibrium scale. RESULTS: Using the Δ48 values, we have established an empirical calibration between temperature and Δ48 values: [Formula: see text] CONCLUSIONS: The calibration line produced allows the determination of the temperature of natural carbonates using the Δ48 values and agrees with the measurements of the Δ47 and Δ48 values of some carbonates assumed to have formed under equilibrium conditions.

10.
PLoS One ; 16(4): e0249309, 2021.
Article in English | MEDLINE | ID: mdl-33793618

ABSTRACT

Two experiments tested whether the Dutch possessive pronoun zijn 'his' gives rise to a gender inference and thus causes a male bias when used generically in sentences such as Everyone was putting on his shoes. Experiment 1 (N = 120, 48 male) was a conceptual replication of a previous eye-tracking study that had not found evidence of a male bias. The results of the current eye-tracking experiment showed the generically-intended masculine pronoun to trigger a gender inference and cause a male bias, but for male participants and in stereotypically neutral stereotype contexts only. No evidence for a male bias was thus found in stereotypically female and male context nor for female participants altogether. Experiment 2 (N = 80, 40 male) used the same stimuli as Experiment 1, but employed the sentence evaluation paradigm. No evidence of a male bias was found in Experiment 2. Taken together, the results suggest that the generically-intended masculine pronoun zijn 'his' can cause a male bias for male participants even when the referents are previously introduced by inclusive and grammatically gender-unmarked iedereen 'everyone'. This male bias surfaces with eye-tracking, which taps directly into early language processing, but not in offline sentence evaluations. Furthermore, the results suggest that the intended generic reading of the masculine possessive pronoun zijn 'his' is more readily available for women than for men.


Subject(s)
Eye-Tracking Technology , Prejudice , Adolescent , Adult , Female , Humans , Language , Male , Stereotyping , Surveys and Questionnaires , Young Adult
11.
Data Brief ; 27: 104666, 2019 Dec.
Article in English | MEDLINE | ID: mdl-31700961

ABSTRACT

This data article describes data of magnetic stratigraphy and anisotropy of isothermal remanent magnetization (AIRM) from "Magnetic properties of early Pliocene sediments from IODP Site U1467 (Maldives platform) reveal changes in the monsoon system" [1]. Acquisition of isothermal magnetization on pilot samples and anisotropy of isothermal remanent magnetization are reported as raw data; magnetostratigraphic data are reported as characteristic magnetization (ChRM).

12.
Sci Adv ; 5(11): eaaw5447, 2019 11.
Article in English | MEDLINE | ID: mdl-31976365

ABSTRACT

Cooking technique reflects a combination of cultural and technological factors; here, we attempt to constrain bivalve cooking temperatures for a pre-Columbian Puerto Rican native population using carbonate clumped isotopes. Analyses of 24 bivalve specimens (Phacoides pectinatus) from a shell midden in Cabo Rojo, Puerto Rico, suggest that samples were heated up to 200°C, indicating that roasting rather than boiling may have been the preferred cooking technique. More than half of analyzed samples exhibited a distinct change from modern uncooked shells, possibly reflecting different cooking techniques or the use of a single method wherein shells are unevenly heated, such as when placed on a heated surface. Roasting bivalves would not necessitate the use of ceramic technologies, an observation concurrent with the absence of such artifacts at this site.


Subject(s)
Bivalvia , Cooking , Isotopes , Algorithms , Animals , Carbon Isotopes , Cooking/methods , Humans , Models, Theoretical , Puerto Rico
13.
Sci Rep ; 7(1): 3555, 2017 06 15.
Article in English | MEDLINE | ID: mdl-28620203

ABSTRACT

The reconstruction of pre-depositional cooking treatments used by prehistoric coastal populations for processing aquatic faunal resources is often difficult in archaeological shell midden assemblages. Besides limiting our knowledge of various social, cultural, economic and technological aspects of shell midden formation, unknown pre-depositional cooking techniques can also introduce large errors in palaeoclimate reconstructions as they can considerably alter the geochemical proxy signatures in calcareous skeletal structures such as bivalve shells or fish otoliths. Based on experimental and archaeological data, we show that carbonate clumped-isotope thermometry can be used to detect and reconstruct prehistoric processing methods in skeletal aragonite from archaeological shell midden assemblages. Given the temperature-dependent re-equilibration of clumped isotopes in aragonitic carbonates, this allows specific processing, cooking or trash dispersal strategies such as boiling, roasting, or burning to be differentiated. Besides permitting the detailed reconstruction of cultural or technological aspects of shell midden formation, this also allows erroneous palaeoclimate reconstructions to be avoided as all aragonitic shells subjected to pre-historic cooking methods show a clear alteration of their initial oxygen isotopic composition.

14.
Glob Chang Biol ; 23(3): 1023-1035, 2017 03.
Article in English | MEDLINE | ID: mdl-27561209

ABSTRACT

Anthropogenic climate change compromises reef growth as a result of increasing temperatures and ocean acidification. Scleractinian corals vary in their sensitivity to these variables, suggesting species composition will influence how reef communities respond to future climate change. Because data are lacking for many species, most studies that model future reef growth rely on uniform scleractinian calcification sensitivities to temperature and ocean acidification. To address this knowledge gap, calcification of twelve common and understudied Caribbean coral species was measured for two months under crossed temperatures (27, 30.3 °C) and CO2 partial pressures (pCO2 ) (400, 900, 1300 µatm). Mixed-effects models of calcification for each species were then used to project community-level scleractinian calcification using Florida Keys reef composition data and IPCC AR5 ensemble climate model data. Three of the four most abundant species, Orbicella faveolata, Montastraea cavernosa, and Porites astreoides, had negative calcification responses to both elevated temperature and pCO2 . In the business-as-usual CO2 emissions scenario, reefs with high abundances of these species had projected end-of-century declines in scleractinian calcification of >50% relative to present-day rates. Siderastrea siderea, the other most common species, was insensitive to both temperature and pCO2 within the levels tested here. Reefs dominated by this species had the most stable end-of-century growth. Under more optimistic scenarios of reduced CO2 emissions, calcification rates throughout the Florida Keys declined <20% by 2100. Under the most extreme emissions scenario, projected declines were highly variable among reefs, ranging 10-100%. Without considering bleaching, reef growth will likely decline on most reefs, especially where resistant species like S. siderea are not already dominant. This study demonstrates how species composition influences reef community responses to climate change and how reduced CO2 emissions can limit future declines in reef calcification.


Subject(s)
Climate Change , Coral Reefs , Animals , Anthozoa , Caribbean Region , Florida , Population Dynamics , Seawater
15.
Sci Rep ; 6: 39380, 2016 12 21.
Article in English | MEDLINE | ID: mdl-28000717

ABSTRACT

X-ray-based 3D-imaging techniques have gained fundamental significance in research areas ranging from taxonomy to bioengineering. There is demand for the characterisation of species-specific morphological adaptations, micro-CT (µCT) being the method of choice in small-scale animals. This has driven the development of suitable staining techniques to improve absorption-based tissue contrast. A quantitative account on the limits of current staining protocols for preparing µCT specimen, however, is still missing. Here we present a study that quantifies results obtained by combining a variety of different contrast agents and fixative treatments that provides general guidance for µCT applications, particularly suitable for insect species. Using a blowfly model system (Calliphora), we enhanced effective spatial resolution and, in particular, optimised tissue contrast enabling semi-automated segmentation of soft and hard tissue from µCT data. We introduce a novel probabilistic measure of the contrast between tissues: PTC. Our results show that a strong iodine solution provides the greatest overall increase in tissue contrast, however phosphotungstic acid offers better inter-tissue discriminability. We further show that using paraformaldehyde as a fixative as opposed to ethanol, slows down the uptake of a staining solution by approximately a factor of two.


Subject(s)
Diptera/anatomy & histology , X-Ray Microtomography/methods , Animals , Contrast Media/chemistry , Formaldehyde , Imaging, Three-Dimensional/methods , Iodine/chemistry , Polymers , Staining and Labeling/methods
16.
Sci Rep ; 6: 29838, 2016 07 20.
Article in English | MEDLINE | ID: mdl-27436574

ABSTRACT

The South Asian Monson (SAM) is one of the most intense climatic elements yet its initiation and variations are not well established. Dating the deposits of SAM wind-driven currents in IODP cores from the Maldives yields an age of 12. 9 Ma indicating an abrupt SAM onset, over a short period of 300 kyrs. This coincided with the Indian Ocean Oxygen Minimum Zone expansion as revealed by geochemical tracers and the onset of upwelling reflected by the sediment's content of particulate organic matter. A weaker 'proto-monsoon' existed between 12.9 and 25 Ma, as mirrored by the sedimentary signature of dust influx. Abrupt SAM initiation favors a strong influence of climate in addition to the tectonic control, and we propose that the post Miocene Climate Optimum cooling, together with increased continentalization and establishment of the bipolar ocean circulation, i.e. the beginning of the modern world, shifted the monsoon over a threshold towards the modern system.

17.
BMC Med Genet ; 17(1): 47, 2016 07 20.
Article in English | MEDLINE | ID: mdl-27439461

ABSTRACT

BACKGROUND: Macular corneal dystrophy (MCD) is a rare autosomal recessive disorder that is characterized by progressive corneal opacity that starts in early childhood and ultimately progresses to blindness in early adulthood. The aim of this study was to identify the cause of MCD in a black South African family with two affected sisters. METHODS: A multigenerational South African Sotho-speaking family with type I MCD was studied using whole exome sequencing. Variant filtering to identify the MCD-causal mutation included the disease inheritance pattern, variant minor allele frequency and potential functional impact. RESULTS: Ophthalmologic evaluation of the cases revealed a typical MCD phenotype and none of the other family members were affected. An average of 127 713 variants per individual was identified following exome sequencing and approximately 1.2 % were not present in any of the investigated public databases. Variant filtering identified a homozygous E71Q mutation in CHST6, a known MCD-causing gene encoding corneal N-acetyl glucosamine-6-O-sulfotransferase. This E71Q mutation results in a non-conservative amino acid change in a highly conserved functional domain of the human CHST6 that is essential for enzyme activity. CONCLUSION: We identified a novel E71Q mutation in CHST6 as the MCD-causal mutation in a black South African family with type I MCD. This is the first description of MCD in a black Sub-Saharan African family and therefore contributes valuable insights into the genetic aetiology of this disease, while improving genetic counselling for this and potentially other MCD families.


Subject(s)
Corneal Dystrophies, Hereditary/genetics , Mutation , Sulfotransferases/genetics , Adult , Cornea/pathology , Corneal Dystrophies, Hereditary/pathology , Female , High-Throughput Nucleotide Sequencing , Homozygote , Humans , Male , Pedigree , Phenotype , Polymorphism, Single Nucleotide , South Africa , Carbohydrate Sulfotransferases
18.
Rapid Commun Mass Spectrom ; 29(10): 955-64, 2015 May 30.
Article in English | MEDLINE | ID: mdl-26407310

ABSTRACT

RATIONALE: Understanding changes in Earth's oceans and climate requires the reliable application of paleo-proxies. However, inconsistencies between individual δ(18) O records within biogenic specimens commonly have significant impacts on environmental reconstructions. This study addresses the stable isotope variability associated with sample milling from aragonitic organisms commonly used for paleoclimate studies. METHODS: Aragonite samples were hand-ground and milled from sclerosponge, coral, and mollusc specimens using a computerized micromill. An X-ray diffractometer was used to analyze sample mineralogy prior to measurement of δ(18) O and δ(13) C values via isotope ratio mass spectrometry of CO2 gases provided from the samples by a Kiel III device. Possible influences on the Sr/Ca ratios were assessed on a sclerosponge through paired elemental analysis by inductively coupled plasma optical emission spectrometry. RESULTS: Analyses revealed up to 36% inversion to calcite in milled samples that correlated with a decrease in the δ(18) O value of 0.02 ‰ per 1% inversion. Replicate sclerosponge transects yielded similar trends in δ(13) C values and Sr/Ca ratios, although the δ(18) O values showed irregular variations consistent with those measured for the inversion of individual organisms during milling. CONCLUSIONS: While the δ(13) C values and Sr/Ca ratios of milled samples were largely consistent, the δ(18) O values co-varied with the inversion of aragonite to calcite suggesting significant implications for the resulting temperature and salinity reconstructions from aragonitic archives. The effect appears to be density-driven and, given that the skeletal density tends to vary seasonally in organisms such as corals, would subsequently mask temperature-induced changes in skeletal δ(18) O values.

19.
Nat Commun ; 5: 4672, 2014 Aug 19.
Article in English | MEDLINE | ID: mdl-25135457

ABSTRACT

Many negative δ(13)C excursions in marine carbonates from the geological record are interpreted to record significant biogeochemical events in early Earth history. The assumption that no post-depositional processes can simultaneously alter carbonate and organic δ(13)C values towards more negative values is the cornerstone of this approach. However, the effects of post-depositional alteration on the relationship between carbonate and organic δ(13)C values have not been directly evaluated. Here we present paired carbonate and organic δ(13)C records that exhibit a coupled negative excursion resulting from multiple periods of meteoric alteration of the carbonate δ(13)C record, and consequent contributions of isotopically negative terrestrial organic matter to the sedimentary record. The possibility that carbonate and organic δ(13)C records can be simultaneously shifted towards lower δ(13)C values during periods of subaerial exposure may necessitate the reappraisal of some of the δ(13)C anomalies associated with noteworthy biogeochemical events throughout Earth history.


Subject(s)
Carbon Isotopes/analysis , Carbonates/analysis , Earth, Planet , Geologic Sediments/chemistry , Bahamas , Biochemistry , Geology , Time Factors
20.
Rapid Commun Mass Spectrom ; 27(23): 2616-24, 2013 Dec 15.
Article in English | MEDLINE | ID: mdl-24591022

ABSTRACT

RATIONALE: The hydrogen and oxygen isotopic analyses (δ(2)H and δ(18)O values) of water trapped within speleothem carbonate (fluid inclusions) have traditionally been conducted utilizing dual-inlet isotope ratio mass spectrometry (IRMS) or continuous-flow (CF)-IRMS methods. The application of cavity ring-down spectroscopy (CRDS) to the δ(2)H and δ(18)O analysis of water in fluid inclusions has been investigated at the University of Miami as an alternative method to CF-IRMS. METHODS: An extraction line was developed to recover water from the fluid inclusions consisting of a crusher, sample injection port and an expansion volume (either 100 or 50 cm(3)) directly connected to the CRDS instrument. Tests were conducted to determine the reproducibility of standard water injections and crushes. In order to compare results with conventional analytical methods, samples were analyzed both at the University of Miami (CRDS method) and at the Vrije Universiteit Amsterdam (CF-IRMS method). RESULTS: The analytical reproducibility of speleothem samples crushed on the Miami Device demonstrates an average external standard deviation of 0.5 and 2.0 ‰ for δ(18)O and δ(2)H values, respectively. Sample data are shown to fall near the global meteoric water line, supporting the validity of the method. Three different samples were analyzed at Vrije Universiteit Amsterdam and the University of Miami in order to compare the performance of each laboratory. The average offset between the two laboratories is 0.7 ‰ for δ(18)O and 2.5 ‰ for δ(2)H. CONCLUSIONS: The advantage of CRDS is that the system is a low-cost alternative to CF-IRMS for fluid inclusion isotope analysis. The CRDS method demonstrates acceptable precision and good agreement with results from the CF-IRMS method. These are promising results for the future application of CRDS to fluid inclusion isotope analysis.

SELECTION OF CITATIONS
SEARCH DETAIL
...