High-resolution study of planktic foraminifera from the eastern Mediterranean over the last 13 cal ka BP

A unique high-resolution record from the Nile prodelta has been investigated in order to study past hydrological and climatic changes in the southeastern Levantine region over the last 13 cal ka BP. To this end, we used planktic foraminifera (accumulation rates, diversity, assemblages and size properties) as bioindicators of the ecological characteristics of the water column (temperature, salinity, primary production and hydrology). These characteristics were mainly connected to Nile discharges and thermohaline circulation which in turn were controlled by various global and regional climatic forcing factors (e.g., orbital forcing, African and Indian Monsoon, North Atlantic Oscillation (NAO)). Our data showed seven main climatic periods: 1) from 13.0 to 11.5 cal ka BP encompassing the Younger Dryas and characterized by rather cold productive and mixed waters; 2) from 11.5 to 10.1 cal ka BP matching the start of the Holocene and the onset of the African Humid Period (AHP). This period was defined by surface water warming and increasing stratification due to increased river outflow; 3) from 10.1 to 6.4 cal ka BP encompassing the Sapropel deposit (S1) and matching the maximum of the AHP with drastic ecological conditions and maximum water stratification. During this period, the dominant warm taxon Globigerinoides ruber increased significantly in size and accumulation rate marking an opportunistic behavior and a total adaptation to the less saline and stratified waters. After 8.8 cal ka BP, the increase in diversity marked a progressive return to normal conditions; 4) from 6.4 to 2.9 cal ka BP, a progressive aridification period was recorded and the planktic ecosystem returned progressively to equilibrium conditions due to the recovery of thermohaline circulation after S1 and the decrease in Nile runoff; 5) from 2.9 to 1.1 cal ka BP, particular dry conditions were recorded leading to a severe drop in planktic diversity. These conditions seemed to be connected to a negative state of the NAO marking the Roman Humid Period in the western Mediterranean and being anti-phased with the southeastern Mediterranean; 6) from 1.1 to 0.54 cal ka BP, a humid period was recorded matching the Medieval Warm Anomaly and this time connected to a positive NAO. The highest foraminiferal diversity was recorded and the increase in proportions of deep dwellers and eutrophic taxa marked highly productive and mixed waters; 7) from 0.54 cal ka BP to modern time encompassing the Little Ice Age and recorded in our data by a general aridity and surface water warming

Cocos (Keeling) Corals Reveal 200 Years of Multidecadal Modulation of Southeast Indian Ocean Hydrology by Indonesian Throughflow

The only low latitude pathway of heat and salt from the Pacific Ocean to the Indian Ocean, known as Indonesian Throughflow (ITF), has been suggested to modulate Global Mean Surface Temperature (GMST) warming through redistribution of surface Pacific Ocean heat. ITF observations are only available since ~1990s, and thus, its multidecadal variability on longer time scales has remained elusive. Here we present a 200 year bimonthly record of geochemical parameters (d 18 O-Sr/Ca) measured on Cocos (Keeling) corals tracking sea surface temperature (SST; Sr/Ca) and sea surface salinity (SSS; seawater-d 18 O-d 18 O sw ) in the southeastern tropical Indian Ocean (SETIO). Our results show that SETIO SSS and d 18 O sw were impacted by ITF transport over the past 60 years, and therefore, reconstructions of Cocos d 18 O sw hold information on past ITF variability on longer time spans. Over the past 200 years ITF leakage into SETIO is dominated by the interannual climate modes of the Pacific Ocean (El Niño—Southern Oscillation) and Indian Ocean (Indian Ocean Dipole). Pacific decadal climate variability (represented by the Pacific Decadal Oscillation) significantly impacted ITF strength over the past 200 years determining the spatiotemporal SST and SSS advection into the Indian Ocean on multidecadal time scales. A comparison of our SETIO d 18 O sw record to GMST shows that ITF transport varied in synchrony with global warming rate, being predominantly high/low during GMST warming slowdown/acceleration, respectively. This hints toward an important role for the ITF in global warming rate modulation

Intellectual disability, unusual facial morphology and hand anomalies in sibs

Here we report on a Portuguese family with three sisters who shared moderate intellectual disability, unusual facial morphology (short palpebral fissures; broad nasal tip; thin upper and lower vermillion; broad and pointed chin) and hand anomalies in two of them (short left third and fifth right metacarpals in one case; marked syndactyly between the third and fourth fingers in another). One of the sisters had microcephaly and short stature, and the other two were obese. Obesity and somewhat similar facial features were also present in the otherwise healthy mother. Despite the overlap with several known syndromes (Albright osteodystrophy; Filippi syndrome; Rubinstein-Taybi syndrome; microdeletion 2q37), we suggest this condition is previously unreported, and most likely displays an autosomal recessive pattern of inheritance

Thirteen thousand years of southeastern Mediterranean climate variability inferred from an integrative planktic foraminiferal-based approach

Over the past 13 ka, the hydrology for the southeastern Mediterranean was mainly regulated by Nile River runoff, which in turn was controlled by climate forcing. Being affected by orbital forcing, and the position of the Intertropical Convergence Zone (ITCZ), planktic foraminiferal data (assemblages, stable isotopes, and size properties) indicate three major periods. (1) From 13.0 to 11.5 ka, the upper water column was well-mixed, cold, and productive. (2) From 11.5 to 6.4 ka, hydrology and foraminifers were affected by intensified monsoonal circulation. The enhanced size of Globigerinoides ruber is interpreted as a response to environmental stress caused by low-saline waters. (3) After 6.4 ka, the southward retreat of the ITCZ caused a decrease in freshwater discharge and hence a return to ecological equilibrium. A drop in foraminifer diversity from 2.9 to 1.1 ka was related to more arid conditions, and limited supply of nutrients from the Nile River. We suggest a link to a negative North Atlantic Oscillation (NAO) marking the Roman Humid Period in the western Mediterranean, and in anti-phase with the southeastern Mediterranean aridity. Because Nile River runoff exerted major control on surface hydrology, a connection to Indian and Pacific climate systems partially controlling precipitation over the Nile catchment area is hypothesized. From 1.1 to 0.54 ka, high foraminifer diversity indicates humid conditions synchronous to the Medieval Climate Anomaly under a positive NAO state. Over the past 0.54 ka encompassing the Little Ice Age, another arid period is indicated by a drop in foraminifer diversity

Rubinstein-Taybi syndrome with scoliosis

<p>Abstract</p> <p>Study Design</p> <p>Case report.</p> <p>Objective</p> <p>The authors present the case of a 14-year-old boy with Rubinstein-Taybi syndrome (RSTS) presenting scoliosis.</p> <p>Summary of Background Data</p> <p>There have been no reports on surgery for RSTS presenting scoliosis.</p> <p>Methods</p> <p>The patient was referred to our hospital for evaluation of a progressive spinal curvature. A standing anteroposterior spine radiograph at presentation to our hospital revealed an 84-degree right thoracic curve from T6 to T12, along with a 63-degree left lumbar compensatory curve from T12 to L4. We planned a two-staged surgery and decided to fuse from T4 to L4. The first operation was front-back surgery because of the rigidity of the right thoracic curve. The second operation of lumbar anterior discectomy and fusion was arranged 9 months after the first surgery to prevent the crankshaft phenomenon due to his natural course of adolescent growth. To avoid respiratory complications, the patient was put on a respirator in the ICU for several days after both surgeries.</p> <p>Results</p> <p>Full-length spine radiographs after the first surgery revealed no instrumentation failure and showed that the right thoracic curve was corrected to 31 degrees and the left lumbar curve was corrected to 34 degrees. No postoperative complications occurred after both surgeries.</p> <p>Conclusions</p> <p>We succeeded in treating the patient without complications. Full-length spine standing radiographs at one year after the second operation demonstrated a stable bony arthrodesis with no loss of initial correction.</p

Craniofacial dysmorphology in 22q11.2 deletion syndrome by 3D laser surface imaging and geometric morphometrics: illuminating the developmental relationship to risk for psychosis

Persons with 22q11.2 deletion syndrome (22q11.2DS) are characterized inter alia by facial dysmorphology and greatly increased risk for psychotic illness. Recent studies indicate facial dysmorphology in adults with schizophrenia. This study evaluates the extent to which the facial dysmorphology of 22q11.2DS is similar to or different from that evident in schizophrenia. Twenty-one 22q11.2DS-sibling control pairs were assessed using 3D laser surface imaging. Geometric morphometrics was applied to 30 anatomical landmarks, 480 geometrically homologous semi-landmarks on curves and 1720 semi-landmarks interpolated on each 3D facial surface. Principal component (PC) analysis of overall shape space indicated PC2 to strongly distinguish 22q11.2DS from controls. Visualization of PC2 indicated 22q11.2DS and schizophrenia to be similar in terms of overall widening of the upper face, lateral displacement of the eyes/orbits, prominence of the cheeks, narrowing of the lower face, narrowing of nasal prominences and posterior displacement of the chin; they differed in terms of facial length (increased in 22q11.2DS, decreased in schizophrenia), mid-face and nasal prominences (displaced upwards and outwards in 22q11.2DS, less prominent in schizophrenia); lips (more prominent in 22q11.2DS; less prominent in schizophrenia) and mouth (open mouth posture in 22q11.2DS; closed mouth posture in schizophrenia). These findings directly implicate dysmorphogenesis in a cerebral-craniofacial domain that is common to 22q11.2DS and schizophrenia and which may repay further clinical and genetic interrogation in relation to the developmental origins of psychotic illness

Cancer-prone syndrome of mosaic variegated aneuploidy and total premature chromatid separation: Report of five infants

Five infants (two girls and three boys) from four families all had severe pre- and post-natal growth retardation, profound developmental delay, microcephaly, hypoplasia of the brain with Dandy-Walker complex or other posterior fossa malformations, and developed uncontrollable clonic seizures. Four infants developed Wilms tumors, and one showed cystic lesions in bilateral kidneys. All five infants showed variegated mosaic aneuploidy in cultured lymphocytes. In two infants whose chromosomes were prepared by us, 48.5%-83.2% lymphocytes showed total premature chromatid separation (PCS). Their parents had 3.5%-41.7% of their lymphocytes in total PCS. The remaining three infants and their parents, whose chromosomes were prepared at outside laboratories, tended to show lower frequencies of total PCS. Another five infants reported with the disorder were reviewed together with the five infants we described. Together, their clinical and cytogenetic manifestations were similar enough to suggest a syndrome. Seven of the 10 infants developed proven or probable Wilms tumors. The age at diagnosis of the tumors was younger than usual at 2-16 months. The tumors were bilateral in four infants and unilateral in three infants, and cystic changes were present in six infants. Two infants developed botryoid rhabdomyosarcoma. The carriers of the syndrome are thus liable to tumorigenesis. The possible role of mitotic checkpoint defects, proven in two infants with the syndrome (Matsuura et al. [2000: Am J Hum Genet 69:483-486]), was discussed in connection with tumor development and progression

Late Holocene canyon-carving floods in northern Iceland were smaller than previously reported

Catastrophic floods have formed deep bedrock canyons on Earth, but the relationship between peak discharge and bedrock erosion is not clearly understood. This hinders efforts to use geological evidence of these cataclysmic events to constrain their magnitude – a prerequisite for impact assessments. Here, we combine proxy evidence from slackwater sediments with topographic models and hydraulic simulations to constrain the Late Holocene flood history of the Jökulsá á Fjöllum river in northern Iceland. We date floods to 3.5, 1.5 and 1.35 thousand years ago and confirm that flow peaks during these events were at most a third of previous estimates. Nevertheless, exposure ages suggests that nearby knickpoints retreated by more than 2 km during these floods. These findings support a growing consensus that the extent of bedrock erosion is not necessarily controlled by discharge and that canyon-carving floods may be smaller than typically assumed