The Effect of a Fat-Restricted Diet in Four Patients with Familial Chylomicronemia Syndrome: A Long-Term Follow-Up Study

(1) Background: Familial chylomicronemia syndrome (FCS) is a very rare autosomal recessive disorder characterized by severely elevated triglycerides and clinical symptoms in early childhood mainly presenting with abdominal pain, acute pancreatitis and hepatosplenomegaly. Primary treatment is a lifelong very strict low-fat diet, which might be challenging in pediatric patients. So far, data about children with FCS are rare. The aim of this study was to show the familial chylomicronemia syndrome traffic light table for pediatric patients and to assess the dietary fat intake and impact on triglycerides in children with FCS. (2) Methods: We performed a retrospective analysis in four children (50% male) affected by FCS from the Department of Pediatrics and Adolescent Medicine, Medical University of Vienna between January 2002 and September 2020. (3) Results: The four patients presented with classical FCS symptoms and showed baseline triglycerides (TG) exceeding 30,000 mg/dL in two patients, 10,000 mg/dL and 2400 mg/dL in one patient each. After diagnosis, fat percentage of total daily caloric intake was decreased and resulted immediately in triglyceride reduction. In all patients, FCS was genetically confirmed by mutations in genes encoding lipoprotein lipase. Acute pancreatitis and hepatosplenomegaly disappeared under the fat-restricted diet. A FCS traffic light table was developed as a dietary tool for affected families. (4) Conclusions: A restriction of dietary fat between 10% to 26% of the total daily caloric intake was feasible and effective in the long-term treatment of genetically confirmed FCS in children and could reduce the risk for acute pancreatitis. The dietary tool, the pediatric FCS traffic light table and the age-appropriate portion sizes for patients between 1 to 18 years, supports children and their parents to achieve and adhere to the lifelong strict low-fat diet.

The transport of sediment mixtures examined with a birth-death model for grain-size fractions

Bedload transport of sediment mixtures in mountain streams is challenging to predict, with implications for understanding how rivers form and respond to environmental change. Experimental work shows that collective particle entrainment is an important contributing mechanism of bedload transport, but questions remain. We use four different time series of experimental sediment flux for granular particles 4–32 mm in diameter to indirectly examine the role of collective mobilization. Flux was measured at a fixed position in space using an imaging light table. The light table provides a flux measurement that is sampled at a resolution of 1 Hz, and for total time durations ranging from 75 to 240 min. Experimental conditions include periods of statistical steady-state, and transient adjustments due to changes of the upstream supply of water and sediment. We find that despite the contrasting experimental conditions, the time series encode a consistent transport behaviour within the Fourier domain: the transport of finer grain size populations has increasing power density for decreasing frequency, whereas the transport of larger grain size populations has a near constant power density across all frequencies. Hence, smaller particle sizes dominate the power spectra. We seek an explanation for this result, and elaborate on a probabilistic birth-death model introduced to the field by Christophe Ancey and colleagues. Analysis using the expanded birth-death model provides two important results. The transport of smaller particles includes collective entrainment terms that represent grain mobilization due to smaller and larger particle sizes colliding with the streambed surface. In contrast, the transport of larger particles includes collective entrainment terms limited to larger particle sizes. The size-dependent collective controls on particle mobilization is an important finding, and we show that it offers a testable explanation for observed flux differences between smaller and larger particle sizes, common to gravel-bed mountain streams. As a result, our work motivates the need to better understand collective entrainment within the context of granular sediment transport along mountain stream beds.

Past Temperature Record From The Analysis of Melt Features In The Dye 3, Greenland, Ice Core

The layered sequences of melt features preserved in inland polar ice sheets provide valuable proxy data on past variations in summer temperature. A continuous detailed light-table examination was made on the 2037 m-deep Dye 3 ice core immediately after core recovery. Melt features are products of high air temperatures or solar insolation which occur only at or near the snow surface during summer months. A correlation is made between these features and the extent and intensity of summer temperatures. Care must be exercised to identify and distinguish between all mm-thick radiation crusts and wind crusts contained in the record. The absence or presence of these discrete features serve respectively as indicators of total summer cloud cover and the extent of winter storm activity although they are difficult to differentiate from only light-table observations. In this analysis both thin radiation crusts and wind crusts are not in themselves significant indicators of long-term temperature trends, but may serve as incipient subsurface horizons or barrier crusts for the formation of thicker ice melt features caused by downward melt percolation during elevated surface temperature conditions.More than 10 000 individual melt features, including ice layers, ice lenses and ice wedges (but excluding ice glands) were measured down to a depth of 1278 m; below this depth transformation of air bubbles to transparent air hydrate inclusions occurs (Shoji and Langway, 1987) and the megascopic melt features become obscure. The melt-feature data extends back to 1883 B.c. or approximately 3900 years B.P., based on the accurate time scale of continuous δ18O measurements (Dansgaard and others, 1985) For the entire core profile investigated the annual melt percentage is 5.7. Individual melt features range in thickness from 1 mm to 100 mm. A mean value for melt-feature thickness was calculated for continuous 30-year time intervals to consider the general long-term summer temperature trends with corrections made for progressive annual accumulation layer thinning due to ice flow.Since the AMP parameter includes noise from radiation and wind crusts it appears that the simple average of melt-feature thickness per longer time-units is a better indication of air temperature paleodata. The average melt-feature thickness is 1.2 cm. The complete curve obtained shows a higher thickness value of about 1.5 cm for the period 1800 B.C. to 1300 B.C. A lower, almost constant thickness value of about 1cm is shown for the period 1000 B.c. to 1800 A.D., with a slight reduction in thickness recorded around 200 B.C., 400 A.D. and 1600 A.D. These long-term trends are coherent with those recorded in the δ18O profile for the same ice core.