Familial Hypercholesterolaemia: The Cape Town Experience

Familial hypercholesterolaemia (FH), an autosomal dominantly inherited disorder characterised by elevated plasma low-density lipoprotein (LDL) cholesterol levels, tendon xanthomata and premature ischaemic heart disease, is amenable to treatment with modern medication. The clinical and biochemical details of 1 031 patients with FH were analysed. FH is the most common monogenic disorder of lipoprotein metabolism presenting to the Lipid Clinic at Groote Schuur Hospital, accounting for about 20% of consultations. The hospital classified 55% of the FH patients as white, 43% as coloured, 1.5% as Asian and 0.5% as black. In the FH cohort (whose mean age at presentation was 44 years), 80% had tendon xanthomata, 36% had arcus cornealis, and 14% had xanthelasma. Tendon xanthomata was present in almost 90% of patients by the age of 50 years. Arcus cornealis was present in about 45% by the age of 40 years, further increasing in frequency with age. Cardiovascular complications included ischaemic heart disease (43%), stroke (1.5%), transient ischaemic attacks (1.3%), and peripheral vascular disease (3.7%). The mean age of death was 55 (±13) years; 51 (±10) years in men and 61 (±12) years in women. In 46% of the cohort, a defective gene was identified by testing for locally prevalent mutations.South African Medical Journal Vol. 98 (2) 2008: pp. 99-10

Quaternary sea level changes in Scotland

This paper summarises developments in understanding sea level change during the Quaternary in Scotland since the publication of the Quaternary of Scotland Geological Conservation Review volume Quaternary of Scotland in 1993. We present a review of progress in methodology, particularly in the study of sediments in isolation basins and estuaries as well as in techniques in the field and laboratory, which have together disclosed greater detail in the record of relative sea level (RSL) change than was available in 1993. However, progress in determining the record of RSL change varies in different areas. Studies of sediments and stratigraphy offshore on the continental shelf have increased greatly, but the record of RSL change there remains patchy. Studies onshore have resulted in improvements in the knowledge of rock shorelines, including the processes by which they are formed, but much remains to be understood. Studies of Late Devensian and Holocene RSLs around present coasts have improved knowledge of both the extent and age range of the evidence. The record of RSL change on the W and NW coasts has disclosed a much longer dated RSL record than was available before 1993, possibly with evidence of Meltwater Pulse 1A, while studies in estuaries on the E and SW coasts have disclosed widespread and consistent fluctuations in Holocene RSLs. Evidence for the meltwater pulse associated with the Early Holocene discharge of Lakes Agassiz-Ojibway in N America has been found on both E and W coasts. The effects of the impact of storminess, in particular in cliff-top storm deposits, have been widely identified. Further information on the Holocene Storegga Slide tsunami has enabled a better understanding of the event but evidence for other tsunami events on Scottish coasts remains uncertain. Methodological developments have led to new reconstructions of RSL change for the last 2000 years, utilising state-of-the-art GIA models and alongside coastal biostratigraphy to determine trends to compare with modern tide gauge and documentary evidence. Developments in GIA modelling have provided valuable information on patterns of land uplift during and following deglaciation. The studies undertaken raise a number of research questions which will require addressing in future work

Severe Hypertriglyceridaemia as a result of Familial Chylomicronaemia:

Lipoprotein lipase deficiency causes severe hypertriglyceridaemia due to chylomicronaemia, and leads to recurrent and potentially life-threatening pancreatitis. This disorder can only be managed by dietary fat restriction as drugs are ineffective. We review the experience with familial chylomicronaemia in patients who attended the lipid clinics at Groote Schuur Hospital and Red Cross Children's War Memorial Hospital in Cape Town. Criteria for inclusion were an initial plasma triglyceride concentration of >15 mmol/l and a typical type I Fredrickson hyperlipidaemia pattern on plasma lipoprotein electrophoresis. A total of 29 patients were seen over 25 years. The mean age of presentation was 10 years, but ranged from 0 to 43 years. The modes of presentation differed: pancreatitis (N=16), eruptive xanthomata (N=2), coincidental detection of hypertriglyceridaemia (N=2), screening relatives (N=7), and after death from pancreatitis (N=1). Plasma triglycerides responded rapidly and dramatically to dietary fat restriction, and some patients sustained good control of the hyperlipidaemia. The onset of pancreatitis was earlier in patients of Indian ancestry, suggesting a genotype/phenotype interaction within this disorder. Genetic work-up indicated founder effects in the Afrikaner and Indian patients. Lipaemic plasma should be taken seriously at all ages, and necessitates work-up at specialised clinics where the diagnosis of chylomicronaemia or type I hyperlipidaemia facilitates appropriate dietary management that can prevent pancreatitis. South African Medical Journal Vol. 98 (2) 2008: pp. 105-10

Severe hypertriglyceridaemia as a result of familial chylomicronaemia:The Cape Town experience

Lipoprotein lipase deficiency causes severe hypertriglyceridaemia due to chylomicronaemia, and leads to recurrent and potentially life-threatening pancreatitis. This disorder can only be managed by dietary fat restriction as drugs are ineffective. We review the experience with familial chylomicronaemia in patients who attended the lipid clinics at Groote Schuur Hospital and Red Cross Children's War Memorial Hospital in Cape Town. Criteria for inclusion were an initial plasma triglyceride concentration of >15 mmol/l and a typical type I Fredrickson hyperlipidaemia pattern on plasma lipoprotein electrophoresis. A total of 29 patients were seen over 25 years. The mean age of presentation was 10 years, but ranged from 0 to 43 years. The modes of presentation differed: pancreatitis (N=16), eruptive xanthomata (N=2), coincidental detection of hypertriglyceridaemia (N=2), screening relatives (N=7), and after death from pancreatitis (N=1). Plasma triglycerides responded rapidly and dramatically to dietary fat restriction, and some patients sustained good control of the hyperlipidaemia. The onset of pancreatitis was earlier in patients of Indian ancestry, suggesting a genotype/phenotype interaction within this disorder. Genetic work-up indicated founder effects in the Afrikaner and Indian patients. Lipaemic plasma should be taken seriously at all ages, and necessitates work-up at specialised clinics where the diagnosis of chylomicronaemia or type I hyperlipidaemia facilitates appropriate dietary management that can prevent pancreatitis

Frequency selection by soliton excitation in nondegenerate intracavity downconversion

We show that soliton excitation in intracavity downconversion naturally selects a strictly defined frequency difference between the signal and idler fields. In particular, this phenomenon implies that if the signal has smaller losses than the idler then its frequency is pulled away from the cavity resonance and the idler frequency is pulled towards the resonance and {\em vice versa}. The frequency selection is shown to be closely linked with the relative energy balance between the idler and signal fields.Comment: 5 pages, 3 figures. To appear in Phys Rev Let

The influence of nonrandom extra-pair paternity on heritability estimates derived from wild pedigrees

Quantitative genetic analysis is often fundamental for understanding evolutionary processes in wild populations. Avian populations provide a model system due to the relative ease of inferring relatedness among individuals through observation. However, extra-pair paternity (EPP) creates erroneous links within the social pedigree. Previous work has suggested this causes minor underestimation of heritability if paternal misassignment is random and hence not influenced by the trait being studied. Nevertheless, much literature suggests numerous traits are associated with EPP and the accuracy of heritability estimates for such traits remains unexplored. We show analytically how nonrandom pedigree errors can influence heritability estimates. Then, combining empirical data from a large great tit (Parus major) pedigree with simulations, we assess how heritability estimates derived from social pedigrees change depending on the mode of the relationship between EPP and the focal trait. We show that the magnitude of the underestimation is typically small (<15%). Hence, our analyses suggest that quantitative genetic inference from pedigrees derived from observations of social relationships is relatively robust; our approach also provides a widely applicable method for assessing the consequences of nonrandom EPP

The Rising Light Curves of Type Ia Supernovae

We present an analysis of the early, rising light curves of 18 Type Ia supernovae (SNe Ia) discovered by the Palomar Transient Factory (PTF) and the La Silla-QUEST variability survey (LSQ). We fit these early data flux using a simple power-law $(f(t) = {\alpha\times t^n})$ to determine the time of first light $({t_0})$, and hence the rise-time $({t_{rise}})$ from first light to peak luminosity, and the exponent of the power-law rise ($n$). We find a mean uncorrected rise time of $18.98 {\pm} 0.54$ days, with individual SN rise-times ranging from $15.98$ to $24.7$ days. The exponent n shows significant departures from the simple 'fireball model' of $n = 2$ (or ${f(t) \propto t^2}$) usually assumed in the literature. With a mean value of $n = 2.44 {\pm} 0.13$, our data also show significant diversity from event to event. This deviation has implications for the distribution of 56Ni throughout the SN ejecta, with a higher index suggesting a lesser degree of 56Ni mixing. The range of n found also confirms that the 56Ni distribution is not standard throughout the population of SNe Ia, in agreement with earlier work measuring such abundances through spectral modelling. We also show that the duration of the very early light curve, before the luminosity has reached half of its maximal value, does not correlate with the light curve shape or stretch used to standardise SNe Ia in cosmological applications. This has implications for the cosmological fitting of SN Ia light curves.Comment: 19 pages, 19 figures, accepted for publication in MNRA

Spatial correlations in hexagons generated via a Kerr nonlinearity

We consider the hexagonal pattern forming in the cross-section of an optical beam produced by a Kerr cavity, and we study the quantum correlations characterizing this structure. By using arguments related to the symmetry broken by the pattern formation, we identify a complete scenario of six-mode entanglement. Five independent phase quadratures combinations, connecting the hexagonal modes, are shown to exhibit sub-shot-noise fluctuations. By means of a non-linear quantum calculation technique, quantum correlations among the mode photon numbers are demonstrated and calculated.Comment: ReVTeX file, 20 pages, 7 eps figure

Temperature-modulated solution-based synthesis of copper oxide nanostructures for glucose sensing

Glucose sensors are widely applied in society as an effective way to diagnose and control diabetes by monitoring the blood glucose level. With advantages in stability and efficiency in glucose detection, non-enzymatic glucose sensors are gradually replacing their enzymatic counterparts and copper(ii) oxide (CuO) is a leading material. However, previous work extensively shows that even if the synthesis of CuO nanostructures is performed under nominally similar conditions, entirely different nanostructured products are obtained, resulting in varying physical and chemical properties of the final product, thereby leading to a differing performance in glucose detection. This work investigates the temperature dependence of a wet chemical precipitation synthesis for CuO nanostructures with the resulting samples showing selectivity for glucose in electrochemical tests. X-ray diffraction (XRD), Raman spectroscopy, and X-ray photoelectron spectroscopy (XPS) demonstrate that all products are predominantly CuO, with some contribution from Cu(OH)2 and other surface species varying across synthesis temperatures. The most important change with increasing synthesis temperature is that the overall nanostructure size changes and the morphology shifts from nanoneedles to nanoparticles between 65 and 70 °C. This work helps to understand the critical relationship between synthesis temperature and final nanostructure and can explain the seemingly random nanostructures observed in the literature. The variations are key to controlling sensor performance and ultimately offering further development in copper oxide-based glucose sensors