Infantile hypertrophic pyloric stenosis in monozygotic twins: a case report and review of genetic and modifiable risk factors

Infantile hypertrophic pyloric stenosis is the most common surgical pathology resulting in emesis presenting in infancy and is usually encountered between the second and eighth weeks of life. It is the most common indication for surgery in infants less than 1 month of age. Prior to the pyloromyotomy developed by Ramstedt in 1911, the mortality for the condition exceeded 50%. Current epidemiologic data indicate that the ailment affects between two and five infants per 1000 live births. Despite the incidence of the condition, the etiologic factors, genetic or environmental, have yet to be clearly elucidated. The incidence in twins has been previously described and noted to be nearly 200 times higher in monozygotic twins. The incidence in dizygotic twins is similar to that between siblings, but nearly 30 and 20 times higher than that of the general population, respectively. This observation continues to stress the importance of genetics in the development of pyloric hypertrophy. Presented here are two cases of idiopathic infantile hypertrophic pyloric stenosis in monozygotic twins with a review of the literature of both genetic and environmental predisposing factors.Keywords: genetics, hypertrophic pyloric stenosis, review, risk factors, twin

New Constraints on the Timing and Pattern of Deglaciation in the Húnaflói Bay Region of Northwest Iceland Using Cosmogenic 36CA Dating and Geomorphic Mapping

Understanding the evolution and timing of changes in ice sheet geometry and extent in Iceland during the Last Glacial Maximum (LGM) and subsequent deglaciation continues to stimulate much active research. Though many previous studies have advanced our knowledge of Icelandic ice sheet history preserved in marine and terrestrial settings (e.g., Andrews et al., 2000; Norðdahl et al., 2008), the timing of ice margin retreat remains largely unknown in several key regions. Recently published 36Cl surface exposure ages of bedrock surfaces and moraines in the West Fjords (Brynjólfsson et al., 2015) contribute important progress in establishing more precise age control of ice recession in northwest Iceland. In another recent study, the spatial pattern and style of deglaciation in northern Iceland have been revealed through geomorphic mapping and GIS analyses of glacial landforms (Principato et al., 2016). Additional insight comes from updated numerical modeling reconstructions, which now provide a series of glaciologically plausible Icelandic ice sheet configurations from the LGM through the last deglaciation (Patton et al., 2017). However, the optimization of ice sheet model simulations relies on critical comparisons with the available empirical record of glacial-geologic evidence and chronological control, which remains relatively limited and sparsely distributed throughout Iceland. Our investigation is motivated by the need for more accurate constraints on the deglacial history in northern Iceland, where dated terrestrial records of ice margin retreat are particularly scarce. (excerpt

Rates of erosion and landscape change along the Blue Ridge escarpment, southern Appalachian Mountains, estimated from in situ cosmogenic 10Be

The Blue Ridge escarpment, located within the southern Appalachian Mountains of Virginia and North Carolina, forms a distinct, steep boundary between the lower-elevation Piedmont and higher-elevation Blue Ridge physiographic provinces. To understand better the rate at which this landform and the adjacent landscape are changing, we measured cosmogenic 10Be in quartz separated from sediment samples (n = 50) collected in thirty-two streams and from three exposed bedrock outcrops along four transects normal to the escarpment, allowing us to calculate erosion rates integrated over 104–105 years. These basin-averaged erosion rates (5.4–49 m My-1) are consistent with those measured elsewhere in the southern Appalachians and show a positive relationship between erosion rate and average basin slope. Erosion rates show no relationship with basin size or relative position of the Brevard fault zone, a fundamental structural element of the region. The cosmogenic isotopic data, when considered along with the distribution of average basin slopes in each physiographic province, suggest that the escarpment is eroding on average more rapidly than the Blue Ridge uplands, which are eroding more rapidly than the Piedmont lowlands. This difference in erosion rates by geomorphic setting suggests that the elevation difference between the uplands and lowlands adjacent to the escarpment is being reduced but at extremely slow rates

Using in situ Chlorine-36 cosmonuclide to recover past earthquake histories on limestone normal fault scarps: a reappraisal of methodology and interpretations

International audienceCosmic-ray exposure dating of preserved, seismically exhumed limestone normal fault scarps has been used to identify the last few major earthquakes on seismogenic faults and recover their ages and displacements through the modelling of the content of in situ [36Cl] cosmonuclide of the scarp rocks. However, previous studies neglected some parameters that contribute to 36Cl accumulation and the uncertainties on the inferred earthquake parameters were not discussed. To better constrain earthquake parameters and to explore the limits of this palaeoseismological method, we developed a Matlab® modelling code (provided in Supplementary information) that includes all the factors that may affect [36Cl] observed in seismically exhumed limestone fault scarp rocks. Through a series of synthetic profiles, we examine the effects of each factor on the resulting [36Cl], and quantify the uncertainties related to the variability of those factors. Those most affecting the concentrations are rock composition, site location, shielding resulting from the geometry of the fault scarp and associated colluvium, and scarp denudation. In addition, 36Cl production mechanisms and rates are still being refined, but the importance of these epistemic uncertainties is difficult to assess. We then examine how pre-exposure and exposure histories of fault-zone materials are expressed in [36Cl] profiles. We show that the 36Cl approach allows unambiguous discrimination of sporadic slip versus continuous creep on these faults. It allows identification of the large slip events that have contributed to the scarp exhumation, and provides their displacement with an uncertainty of +/- ~25 cm and their age with an uncertainty of +/-0.5-1.0 kyr. By contrast, the modelling cannot discriminate whether a slip event is a single event or is composed of multiple events made of temporally clustered smaller size events. As a result, the number of earthquakes identified is always a minimum, while the estimated displacements are maximum bounds and the ages the approximate times when a large earthquake or a cluster of smaller earthquakes have occurred. We applied our approach to a data set available on the Magnola normal fault, Central Italy, including new samples from the buried part of the scarp. Reprocessing of the data helps to refine the seismic history of the fault and quantify the uncertainties in the number of earthquakes, their ages and displacements. We find that the Magnola fault has ruptured during at least five large earthquakes or earthquake clusters in the last 7 ka, and may presently be in a phase of intense activity

ARGONNE RADIUM STUDIES. Evaluation of Clinical Effect Versus Dose in Radium Dial Painters. Final Report.

The ultimate goal of the study of the long- term effects of radium in humans is to delineate the dose- response curve. The shape of this curve is of great importance in setting the maximum permissible amount of any radioactive material to which humans may be exposed. Various theories of clinical effects versus dose have been postulated