First record of mercury concentrations and stable isotopes (13C & 15N) in albacore (Thunnus alalunga) from the Western Equatorial Atlantic Ocean.

This paper reports the first record of total mercury (THg) concentrations in albacore (Thunnus alalunga), one of the main tuna species caught from the Western Equatorial Atlantic Ocean and presents a preliminary comparison with other regions and tuna species. Mean, standard deviation and range of concentrations in T. alalunga (515 ± 145 ng g-1 ww; 294-930 ng g-1 ww) with 92 % being of methyl-Hg, are higher than in albacore from other Atlantic Ocean subregions despite their smaller body size. These concentrations are similar to those from the Pacific and Indian oceans, but lower than in the Mediterranean. Compared to other sympatric tuna species, concentrations are higher than those in T. albacares and similar to T. obesus. These results are discussed considering the potential differences in stable isotope values (13C and 15N) of T. alalunga populations from multiple oceanic areas and compared to other tuna species worldwide.

A 35-Year Record (1987-2022) of Hg Concentrations in Two of the Fish Species Most Consumed by People Living in the Upper Madeira River Basin, Brazilian Amazon Region.

This study presents a 35-year record of total mercury (Hg) concentrations in the detritivore fish Prochilodus nigricans (Curimatã) and the carnivore Cichla pleiozona (Tucunaré), two of the most widely distributed, ecologically important and consumed fish species in the upper Madeira River Basin in the Western Brazilian Amazon. Fish samples from the major Madeira River and marginal lakes and tributaries were compared. Irrespective of site, Hg concentrations were higher in the carnivore fish compared to the detritivore. Hg concentrations increased 5-fold in C. pleiozona in the past three decades, whereas they remained relatively constant in P. nigricans when analyzing the entire 35-year period. When analyzed separately, fish in the main river and marginal lake and tributaries presented the same pattern of Hg variation, with a significant increase in Hg concentrations in the carnivore and in the detritivore in marginal lakes and tributaries but not in the main river. This was in line with the increase in methyl-Hg production in tributaries, mostly associated with deforestation in the past decade in the basin. Although an increase in direct emissions from artisanal gold mining also occurred in the past decade, this caused virtually no impact on fish Hg concentrations, suggesting atmospheric emission and deposition in forests and further export to water systems as an intermediate link with fish Hg concentrations.

Cerebral Cortical Thickness Morphometry and Neurocognitive Correlations in Adolescents With Congenital Hypothyroidism.

CONTEXT: Subtle cognitive impairments have been described in children with congenital hypothyroidism (CH) detected by neonatal screening (NS), even with early and adequate treatment. Patients with CH may present with brain cortical thickness (CT) abnormalities, which may be associated with neurocognitive impairments. OBJECTIVE: This work aimed to evaluate the CT in adolescents with CH detected by the NS Program (Paraná, Brazil), and to correlate possible abnormalities with cognitive level and variables of neurocognitive prognosis. METHODS: A review was conducted of medical records followed by psychometric evaluation of adolescents with CH. Brain magnetic resonance imaging with analysis of 33 brain areas of each hemisphere was performed in 41 patients (29 girls) and in a control group of 20 healthy adolescents. CT values were correlated with Full-scale Intelligence Quotient (FSIQ) scores, age at start of treatment, pretreatment thyroxine levels, and maternal schooling. RESULTS: No significant difference in CT between patients and controls were found. However, there was a trend toward thinning in the right lateral orbitofrontal cortex among patients and in the right postcentral gyrus cortex among controls. CT correlated significantly with FSIQ scores and with age at start of treatment in 1 area, and with hypothyroidism severity in 5 brain areas. Maternal schooling level did not correlate with CT but was significantly correlated with FSIQ. Cognitive level was within average in 44.7% of patients (13.2% had intellectual deficiency). CONCLUSION: There was a trend toward morphometric alterations in the cerebral cortex of adolescents with CH compared with healthy controls. The correlations between CT and variables of neurocognitive prognosis emphasize the influence of hypothyroidism on cortical development. Socioeconomic status exerts a limiting factor on cognitive outcome.

A Pilot Study of Mercury Distribution in the Carapace of Four Species of Sea Turtles from Northeastern Brazil.

Scutes present very complex morphologies with different growth rates at different areas of the carapace that can change the accumulation process of essential and non-essential metals. To infer the effects of morphology and growth on Hg concentrations in scutes, we mapped them in the carapace of one individual of four species of sea turtles sampled along the Brazilian coast. The results showed that Hg concentrations were higher in the vertebral scutes of Chelonia mydas and Eretmochelys imbricata suggesting variation in growth rates of different carapace areas since the vertebral area is the first to develop prior to costal areas. Caretta caretta and Lepidochelys olivacea did not show differences between carapace areas. The preliminary data from this pilot study indicate that vertebral scutes may be suitable for monitoring Hg in C. mydas and E. imbricata, since they reflect longer exposure period. A species-to-species comparison of Hg concentrations is not possible due to the small number of sampled individuals, nevertheless, E. imbricata showed remarkably lower Hg concentrations compared to the other three species. Further studies are required for all four species, with a larger number of individuals, preferentially of varying life stages, due to the unknown effects of different diets, Hg exposure, and migration histories.

Cognitive outcome of 458 children over 25 years of neonatal screening for congenital hypothyroidism.

OBJECTIVES: To describe the neurocognitive profile of 458 children with congenital hypothyroidism detected by neonatal screening, followed under the same treatment protocol over 25 years. To correlate estimated full-scale IQ (FSIQ) scores with age at the start of treatment, disease severity, and maternal education. METHODS: Observational, analytical, retrospective, and longitudinal cohort study, that evaluated children detected between 1991 and 2014, who underwent at least one psychometric assessment (WPPSI- R and/or WISC-III). Estimated FSIQ scores are described and correlated with prognosis determinants. RESULTS: Median T4 at diagnosis was 2.8 µg/dL (0.0-16.5), the median age at the start of treatment was 18.5 days (3-309). Maternal education (n = 445): 2.7% of illiteracy, 59.8% with basic education. Estimated FSIQ scores were 88.0 (±11.8) in WPPSI-R (age 5.6 ± 0.5 years) and 84.1 (±13.0) in WISC-III (age 9.1 ± 1.4 years). The intellectual deficit was identified in 11.6%. Correlation between age at the start of treatment and estimated FSIQ was found only in the WPPSI-R test (p = 0.02). Initial T4 and maternal education significantly correlated with estimated FSIQ scores in both tests, with the latter being the most important determining factor. CONCLUSIONS: In this large cohort of mainly low socioeconomic status children, most children achieved normal cognitive levels; however, a significant percentage presented with below-average estimated FSIQ scores and intellectual deficits. Maternal education was the main determining factor in cognitive level followed by hypothyroidism severity.

Mercury Sources, Emissions, Distribution and Bioavailability along an Estuarine Gradient under Semiarid Conditions in Northeast Brazil.

In the semiarid coast of northeast Brazil, climate change and changes in land use in drainage basins affect river hydrodynamics and hydrochemistry, modifying the estuarine environment and its biogeochemistry and increasing the mobilization of mercury (Hg). This is particularly relevant to the largest semiarid-encroached basin of the region, the Jaguaribe River. Major Hg sources to the Jaguaribe estuary are solid waste disposal, sewage and shrimp farming, the latter emitting effluents directly into the estuary. Total annual emission reaches 300 kg. In that estuary, the distribution of Hg in sediment and suspended particulate matter decreases seaward, whereas dissolved Hg concentrations increase sharply seaward, suggesting higher mobilization at the marine-influenced, mangrove-dominated portion of the estuary, mostly in the dry season. Concentrations of Hg in rooted macrophytes respond to Hg concentrations in sediment, being higher in the fluvial endmember of the estuary, whereas in floating aquatic macrophytes, Hg concentrations followed dissolved Hg concentrations in water and were also higher in the dry season. Animals (fish and crustaceans) also showed higher concentrations and bioaccumulation in the marine-influenced portion of the estuary. The variability of Hg concentrations in plants and sediments agrees with continental sources of Hg. However, Hg fractionation in water and contents in the animals respond to higher Hg availability in the marine-dominated end of the estuary. The results suggest that the impact of anthropogenic sources on Hg bioavailability is modulated by regional and global environmental changes and results from a conjunction of biological, ecological and hydrological characteristics. Finally, increasing aridity due to global warming, observed in northeast Brazil, as well as in other semiarid littorals worldwide, in addition to increased water overuse, augment Hg bioavailability and environmental risk and exposure of the local biota and the tradition of human populations exploiting the estuary's biological resources.

Vocal Characteristics of Children With Short Stature Before and After Growth Hormone Treatment.

OBJECTIVE: To evaluate the vocal characteristics of children with short stature before and 12 months after growth hormone treatment. MATERIAL AND METHODS: This analytical, observational cohort study included 23 children (age 5-11 years) diagnosed with short stature. Children in the short stature group (SSG) were matched (1:1) for age and sex with children with normal growth (normal stature group; NSG). Participants in the SSG underwent assessments before and 12 months after growth hormone treatment, while those in the NSG underwent the same assessments at baseline and 12 months. The assessments included evaluation of (A) vocal characteristics (history, vocal self-assessment, auditory-perceptual evaluation, and acoustic analysis), (B) anthropometry, (C) bone age, and (D) measurement of insulin-like growth factor-1 (IGF-1) levels. RESULTS: Children in the SSG had more vocal complaints (P = 0.026) than those in the NSG. The groups were similar in terms of vocal self-assessment and auditory-perceptual evaluation (P = nonsignificant). Results of acoustic analysis were also similar for fundamental frequency (F 0) and perturbation measures (P for both = nonsignificant). F 0 and speech frequency decreased significantly at 12 months in both groups. F1 values were higher at 12 months in the NSG, while F2 values were significantly higher in the baseline evaluation in boys in the SSG. Children in the SSG compared with those in the NSG presented a greater increase in height measurements at 12 months, although the anthropometric means were lower in both evaluations (P < 0.001). CONCLUSION: Vocal characteristics in children with short stature before and after treatment with growth hormone are comparable to those in children with normal growth.

Chronological Trends and Mercury Bioaccumulation in an Aquatic Semiarid Ecosystem under a Global Climate Change Scenario in the Northeastern Coast of Brazil.

Due to global warming, in the northeastern semiarid coastal regions of Brazil, regional and global drivers are responsible for decreasing continental runoff and increasing estuarine water residence time, which promotes a greater mobilization of bioavailable mercury (Hg) and allows increasing fluxes and/or bioavailability of this toxic trace element and an acceleration of biogeochemical transformation of Hg. In this work, an application of dendrochemistry analysis (annular tree rings analysis) was developed for the reconstruction of the historical pattern of mercury contamination in a contaminated area, quantifying chronological Hg contamination trends in a tropical semiarid ecosystem (Ceará River Estuary, northeastern coast of Brazil) through registration of mercury concentration on growth rings in specimens of Rhizophora mangle L. and using the assessment in sediments as a support for the comparison of profiles of contamination. The comparison with sediments from the same place lends credibility to this type of analysis, as well as the relationship to the historical profile of contamination in the region, when compared with local data about industries and ecological situation of sampling sites. In order to evaluate the consequences of the described increase in Hg bioavailability and bioaccumulation in aquatic biota, and to assess the biological significance of Hg concentrations in sediments to fish and wildlife, muscle and liver from a bioindicator fish species, S. testudineus, were also analyzed. The results of this work reinforce the indicators previously described in the semiarid NE region of Brazil, which showed that global climate change and some anthropogenic factors are key drivers of Hg exposure and biomagnification for wildlife and humans. Considering the Hg concentration present in the top layers of sediment (~20 cm around 15 to 20 years) with the outer layers in the tree ring cores and in the sediment's cores from Pacoti estuary and the Ceará estuary, overall the data indicate an increase in mercury in recent years in the Hg surface sediments, especially associated with the fine sediment fraction, mainly due to the increased capacity of small particles to adsorb Hg. There was revealed a positive and significant correlation (p < 0.05) between Hg trends in sediments and Hg trends in annular tree rings. This shared Hg pattern reflects local environmental conditions. The Hg concentration values in S. testudineus from both study areas are not restrictive to human consumption, being below the legislated European limit for Hg in foodstuffs. The results from S. testudineus muscles analysis suggest a significant and linear increase in Hg burden with increasing fish length, indicating that the specimens are accumulating Hg as they grow. The results from both rivers show an increase in BSAF with fish growth. The [Hg] liver/[Hg] muscles ratio >1, which indicates that the S. testudineus from both study areas are experiencing an increase in Hg bioavailability. Possible climate-induced shifts in these aquatic systems processes are inducing a greater mobilization of bioavailable Hg, which could allow an acceleration of the biogeochemical transformation of Hg.

Dredging impacts on the toxicity and development of sediment quality values in a semi-arid region (Ceará state, NE Brazil).

Sediment dredging impacts coastal environments by promoting the resuspension of fine particles and remobilization of contaminants that may trigger toxic effects. In this study, we evaluated the sediment quality in harbor areas of Mucuripe bay, a semi-arid ecosystem located in Ceará state (Brazil), which is subject to dredging activities. A sampling survey was conducted right after dredging operations and data compared to another survey performed prior dredging. Sediments were analyzed for fine particles, organic carbon, nutrients, metals, hydrocarbons, and tributyltin (TBT). Toxicity of whole-sediment and liquid phase exposures were also determined. The concentrations of Cd, Cr, Cu, and Zn decreased after dredging, which was confirmed by the geoaccumulation index. Levels of TBT dropped while phosphorus, aliphatic and polycyclic aromatic hydrocarbons increased. Toxic effects persisted, indicating a post-dredging recontamination combined with other sources such as urban runoff, wastewater discharges, harbor activities, and antifouling particles. Data from Mucuripe and Pecém harbors were compiled and site-specific sediment quality values (SQVs) were developed by using multivariate methods. The threshold values proposed by our study were lower and more effective to predict toxicity compared to international guidelines, indicating levels of contamination for this tropical region in which toxic effects may occur. Considering the large geographic area with different sediment characteristics of the Brazilian coast, this study represents a significant contribution to sediment toxicity assessment of dredging activities in semi-arid environments.

Pubertal development and adult height in patients with congenital hypothyroidism detected by neonatal screening in southern Brazil.

Objectives Adequate treatment of congenital hypothyroidism (CH) is required for normal growth and sexual development. To evaluate pubertal development in patients with permanent CH detected by a statewide Neonatal Screening Program of Paraná and, secondly, to evaluate adult height (AH) in a subgroup of patients. Methods Clinical, laboratory, and auxological data obtained from medical records of 174 patients (123 girls). Results Median chronological age (CA) at treatment initiation was 24 days, and mean initial levothyroxine dose was 11.7 ± 1.9 µg/kg/day; mean CA at puberty onset was 11.5 ± 1.3 years (boys) and 9.7 ± 1.2 years (girls); mean CA in girls who underwent menarche (n=81) was 12.1 ± 1.1 years. Thyroid-stimulating hormone (TSH) values above the normal range were observed in 36.4% of the boys and 32.7% of the girls on puberty onset, and in 44.6% around menarche. Among 15 boys and 66 girls who had reached the AH, the median height z-score value was significantly greater than the target height (TH) z-score value in boys (p=0.01) and in girls (p<0.001). Boys with normal TSH values at puberty onset had greater mean AH z-score compared with boys with TSH values above the normal range (p=0.04). Conclusions In this group, pubertal development in girls with CH was not different from that reported in healthy girls in the general Brazilian population. Boys with higher TSH at puberty onset may have an increased risk of not reaching their potential height compared with those with normal TSH during this period. In a subgroup who attained AH, the median AH z-score was greater than the median TH z-score.

Influence of size on total mercury (THg), methyl mercury (MeHg), and stable isotopes of N and C in green turtles (Chelonia mydas) from NE Brazil.

The green turtle (Chelonia mydas) is known to present an herbivorous diet as an adult; however, juveniles may have an omnivore habit, and these changes in food preference may affect the uptake and accumulation of pollutants, such as mercury (Hg). In order to better understand the influence of this ontogenetic shift on Hg accumulation, this study evaluates the concentrations of total mercury (THg), methyl mercury (MeHg), and stable isotopes of carbon and nitrogen (δ13C and δ15N) in a group of juveniles of the green turtle. Tissue samples (liver, kidney, muscle, and scutes) were sampled from 47 turtles stranded dead on the coast of Bahia, NE, Brazil, between 2009 and 2013. The turtles analyzed showed a size range of 24.9-62.0 cm and an average of 36.4 ± 7.2 cm of curved carapace length. The scutes showed to be a viable method for Hg monitoring in the green turtles. The concentrations of THg and MeHg decreased with increasing size. The isotope values of δ15N and δ13C did not show a clear relationship with the size, suggesting that the green turtles used in our work would be occupying similar trophic levels, and foraging habitat.

Static and Dynamic Evaluation of a Winding Deformation FBG Sensor for Power Transformer Applications.

Power transformer is the most important and expensive equipment used in the electric power industry. Fiber Bragg grating (FBG) sensors has stood out as a flexible and particularly suitable tool for power transformer monitoring being a passive and dielectric sensor element. In this work we evaluated the performance of FBG pressure sensors developed to monitor the static and dynamic pressure in high voltage winding transformers during events such as short-circuit and inrush current. Two types of sensors packaging materials were evaluated in laboratory: polyether ether ketone (PEEK) and transformerboard (TB). The sensors have been tested for high intensity and short duration impacts similar to those occurring in short circuits. In addition, we evaluated the time response of sensors using an interrogation system with a 5 kHz sweep in order to analyze the short circuit response time properly. The results pointed that FBG pressure sensors using PEEK and TB are suitable for transformer winding monitoring. The static sensitivity obtained to PEEK based sensors was 0.911 pm/N, in the range of 800 N to 1500 N. This sensitivity is 4.47 higher than TB based sensors sensitivity. Dynamical tests performance showed an excellent repeatability for both sensors, in agreement with static observation.

Assessment of a coastal lagoon metal distribution through natural and anthropogenic processes (SE, Brazil).

The present study intends to assess the metal pollution of a eutrophic coastal lagoon, analyzing the long-term and actual metal content in surface sediments, suspended particles, aquatic macrophyte and fish species, and the loads emitted from natural processes and anthropogenic sources, including the relative emission of domestic untreated sewage. Distribution indicated contamination of suspended particles with Cd and the predominance of Pb in the bioavailable form in surface sediments which may explain Cd and Pb contamination in fish. Domestic untreated sewage was an important source of Cu and due to the lagoon's management, this source may be increasing the metal content in the lagoon's surface sediments. Soil loss, atmospheric deposition and solid waste disposal also contributed to metal inputs to the lagoon. Extensive contamination has been prevented by the lagoon's management such as sandbar opening. Metal retention within the watershed soils reduce the effective metal transference and lagoon pollution.

Decadal and spatial variation of Hg concentrations in sediments of a multi-stressor impacted estuary.

The present study has evaluated temporal and spatial mercury trends based on surficial sediment samples and 210Pb-dated sediment profiles. The obtained results show that there are areas close to the main bay's tributary rivers where the Hg content has doubled during the last 15 years and regions where it has decreased by a factor of 2, mainly the area close to the navigation channel, which is submitted to periodic dredging. In the inner part of the bay, the most contaminated region, mercury shows a strong association with sulfide. In the same region, based on the 210Pb results, it was possible to calculate the yearly increment on the Hg concentration in the surface sediment, 0.62 µg kg-1 y-1 to 0.29 µg kg-1 y-1, according to the distance to the bay's main tributary rivers.

Resistance exercise alone improves muscle strength in growth hormone deficient males in the transition phase.

Background During the transition phase (TP), patients with growth hormone deficiency (GHD) exhibit decreased muscle strength. Studies assessing the effects of resistance exercise alone on muscle strength in these individuals are scarce. The objective of this study was to evaluate the effects of a program of resistance exercise (PRE) on parameters of muscle strength in subjects in the TP and with childhood-onset GHD treated with recombinant GH (rGH). Methods Sixteen male patients were enrolled and divided into two groups: GHD (n=9) and GH sufficiency (GHS, n=7). Patients with GHD underwent a 12-week PRE followed by another 12-week PRE plus rGH, while GHS patients underwent a 12-week PRE alone. Dynamic knee muscle strength was evaluated using an isokinetic dynamometer. Results Before PRE, there were significant differences between the groups regarding the results of flexor peak torque (FPT) normalized to body weight (BW-FPT) in the dominant (DO, p=0.008) and non-dominant (ND, p=0.01) limbs, and in the agonist/antagonist (A/A) ratio in the DO (p=0.02) and ND (p=0.006) limbs. After PRE in the GHD group, values of FPT and BW-FPT in both limbs increased significantly (p<0.001) and independently of rGH, while the A/A ratio value improved significantly (p<0.001) in the ND limb. Conclusions A short period of PRE alone was sufficient to improve parameters of muscle strength in young male adults with childhood-onset GHD.

Contrasting Mercury Bioavailability in the Marine and Fluvial Dominated Areas of the Jaguaribe River Basin, Ceará, Brazil.

This study evaluates the influence of environmental and biological factors upon the mercury (Hg) concentrations in the aquatic fauna in the Lower Jaguaribe River Basin (LJRB) - NE, Brazil. Two campaigns conducted in 2015 in the fluvial (FDA) and in the marine-dominated (MDA) areas resulted in 830 organisms from 16 species collected (nine of finfish and seven of invertebrates). Among the invertebrates, the highest Hg concentration occurred in the crab Callinectes bocourti (201 ng g-1), while among the finfish the highest concentration was found in the ladyfish Elops saurus (109 ng g-1), both carnivorous and of high trophic level (TL). Intra-specific comparison showed significant higher Hg concentrations in individuals captured in the MDA. Also, Hg bioaccumulation rate in the shrimp Litopenaeus vannamei was much higher in the MDA. These results, point to a concomitant control of Hg bioavailability by physical-chemical variables along the estuarine gradient of the LJRB.

Vocal Evaluation of Children with Congenital Hypothyroidism.

OBJECTIVE: To evaluate the vocal characteristics of a group of children with congenital hypothyroidism (CH) and the association of these characteristics with the children's clinical, laboratory, and therapeutic profiles. MATHERIAL AND METHODS: Observational, analytical, cross-sectional study including 200 prepubertal children, of whom 100 had CH (study group [SG]) and 100 had no CH (control group [CG]). The following parameters were evaluated: 1) history (identification, complaints, and interfering variables), 2) auditory-perceptual and acoustic evaluation (samples analyzed by a group of specialists, and objectively by a computer program), 3) self-assessment scores in the Pediatric Voice-Related Quality-of-Life (PVRQoL) survey, 4) laryngological evaluation (presence or absence of laryngeal lesions and data regarding glottal closure), and 5) medical records (CH etiology, age at treatment initiation, disease severity at diagnosis, treatment quality, and thyroid function tests on the day of the examination). RESULTS: In the perceptual assessment, 62.6% of the SG children passed, whereas 37.4% failed in the voice screening, but these results were comparable with those in the CG (P = 0.45). Both groups had mean/median acoustic measurements within the normal limits. The mean PVRQoL in the SG (99.3 ± 2.4) and CG (99.5 ± 1.7) were comparable (P = 1.00). Both SG (16.7%) and CG (15%) presented vocal cord lesions (P = 1.00). There was no association between voice/larynx characteristics and endocrinological data. CONCLUSION: Prepubescent children diagnosed with CH during neonatal screening and who have a lifelong history of adequate treatment of CH showed similar vocal and laryngeal characteristics compared with children without CH.

Phosphorus partitioning in sediments from a tropical reservoir during a strong period of drought.

Monitoring phosphorus (P) concentration in water and sediments in the Castanhão reservoir, under intensive aquaculture, in Northeastern Brazil showed internal process to dominate P cycling following a reduction of reservoir volume due to an extended drought period. A strong negative correlation between soluble reactive phosphorus in surface waters (SRPs) with the reservoir volume results from diminishing dilution capacity; bottom water SRP showed no significant correlation with volume and imply SRP remobilization to surface layers. Total suspended solids (TSS) showed a significant correlation with chlorophyll-a, suggesting change primary productivity following SRP enrichment of surface waters and living cells dominating the TSS. As a result, eutrophication, as established by a trophic state index, was triggered in the reservoir probably enforced by intensive fish farming effluents, whose nutrients accumulated in bottom waters and which became available due to breaking of the thermocline. Since low rainfall periods are typical of the semiarid region and tend to be more frequent and stronger due to climate change, multiple use of reservoirs in NE Brazil should be reevaluated.

An Intron 9 CYP19 Gene Variant (IVS9+5G>A), Present in an Aromatase-Deficient Girl, Affects Normal Splicing and Is Also Present in Normal Human Steroidogenic Tissues.

BACKGROUND/AIMS: Splicing CYP19 gene variants causing aromatase deficiency in 46,XX disorder of sexual development (DSD) patients have been reported in a few cases. A misbalance between normal and aberrant splicing variants was proposed to explain spontaneous pubertal breast development but an incomplete sex maturation progress. The aim of this study was to functionally characterize a novel CYP19A1 intronic homozygote mutation (IVS9+5G>A) in a 46,XX DSD girl presenting spontaneous breast development and primary amenorrhea, and to evaluate similar splicing variant expression in normal steroidogenic tissues. METHODS: Genomic DNA analysis, splicing prediction programs, splicing assays, and in vitro protein expression and enzyme activity analyses were carried out. CYP19A1 mRNA expression in human steroidogenic tissues was also studied. RESULTS: A novel IVS9+5G>A homozygote mutation was found. In silico analysis predicts the disappearance of the splicing donor site in intron 9, confirmed by patient peripheral leukocyte cP450arom and in vitro studies. Protein analysis showed a shorter and inactive protein. The intron 9 transcript variant was also found in human steroidogenic tissues. CONCLUSIONS: The mutation IVS9+5G>A generates a splicing variant that includes intron 9 which is also present in normal human steroidogenic tissues, suggesting that a misbalance between normal and aberrant splicing variants might occur in target tissues, explaining the clinical phenotype in the affected patient.

Mangroves Response to Climate Change: A Review of Recent Findings on Mangrove Extension and Distribution.

Mangroves function as a natural coastline protection for erosion and inundation, providing important environmental services. Due to their geographical distribution at the continent-ocean interface, the mangrove habitat may suffer heavy impacts from global climate change, maximized by local human activities occurring in a given coastal region. This review analyzed the literature published over the last 25 years, on the documented response of mangroves to environmental change caused by global climate change, taking into consideration 104 case studies and predictive modeling, worldwide. Most studies appeared after the year 2000, as a response to the 1997 IPCC report. Although many reports showed that the world's mangrove area is decreasing due to direct anthropogenic pressure, several others, however, showed that in a variety of habitats mangroves are expanding as a response to global climate change. Worldwide, pole ward migration is extending the latitudinal limits of mangroves due to warmer winters and decreasing the frequency of extreme low temperatures, whereas in low-lying coastal plains, mangroves are migrating landward due to sea level rise, as demonstrated for the NE Brazilian coast. Taking into consideration climate change alone, mangroves in most areas will display a positive response. In some areas however, such as low-lying oceanic islands, such as in the Pacific and the Caribbean, and constrained coastlines, such as the SE Brazilian coast, mangroves will most probably not survive.