A successful pregnancy outcome of homozygous familial hypercholesterolaemia patient on statin therapy.

Homozygous familial hypercholesterolaemia (HoFH) is a rare genetic disorder of lipoprotein metabolism mainly due to mutation of the low-density lipoprotein (LDL)-receptor gene (LDLR). It is a life-threatening disease that causes accelerated, multi-vessel atherosclerosis presented in early childhood. Pregnancy in HoFH may pose early coronary morbidity and mortality to both the foetus and mother. The combination of HoFH and pregnancy can be a fatal condition. While statins are very effective in lowering low-density lipoprotein cholesterol (LDL-C) levels, they are generally contraindicated during pregnancy, thus their use during pregnancy is uncommon. On the other hand, lipid apheresis (LA) has turned into an effective treatment to control cholesterol level amid pregnancy. However, the procedure is not widely available in our region. To date, there are scarcely documented case reports of HoFH in pregnancy in which the majority of them underwent LA to keep LDL-C at a low level. We report a rare case of successful pregnancy outcome of HoFH patient treated with lipid-lowering drugs including statin without LA therapy. Apart from that, we also discussed the genetic findings of the proband and all screened family members in which to the best of our knowledge, the first study using the whole-exome sequencing technique to identify the causative gene mutations for familial hypercholesterolaemia among the Malaysian population.

A quadriplex PCR assay for rapid detection of diarrhoeacausing parasitic protozoa from spiked stool samples.

Diarrhoea is a leading killer of children, accounting for 9% of all deaths among children under age 5 worldwide and 3% in Malaysia in 2015. A large proportion of diarrhoea illnesses among children in developing countries are ascribed to an unknown etiology because microscopic examination was the only available technique which has low detection limits. The proposed study aimed to evaluate a new quadriplex PCR assay to detect parasitic pathogens namely E. histolytica, G. lamblia and C. parvum which considered responsible for the majority of human infections. Three set of specific primer pairs were designed for detection of parasitic pathogens. Quadriplex PCR assay was optimized and an internal amplification control was incorporated to check for PCR inhibitors in samples. The PCR assay was evaluated using spiked stool samples. Specific primer pairs were successfully designed and simultaneously amplified the targeted genes. The analytical sensitivity of the quadriplex PCR at the DNA level was found to be 50 ng DNA. The analytical specificity was evaluated with 11 reference protozoal and bacterial strains and was found to be 100%. We concluded that the developed quadriplex PCR assay was rapid and gave results within 5 hours which is essential for the identification of parasitic pathogen and might be useful as an additional diagnostic tool whenever time is important in the diagnosis of parasite that cause diarrhoea.

A quadriplex PCR assay for rapid detection of diarrhoeacausing parasitic protozoa from spiked stool samples

@#Diarrhoea is a leading killer of children, accounting for 9% of all deaths among children under age 5 worldwide and 3% in Malaysia in 2015. A large proportion of diarrhoea illnesses among children in developing countries are ascribed to an unknown etiology because microscopic examination was the only available technique which has low detection limits. The proposed study aimed to evaluate a new quadriplex PCR assay to detect parasitic pathogens namely E. histolytica, G. lamblia and C. parvum which considered responsible for the majority of human infections. Three set of specific primer pairs were designed for detection of parasitic pathogens. Quadriplex PCR assay was optimized and an internal amplification control was incorporated to check for PCR inhibitors in samples. The PCR assay was evaluated using spiked stool samples. Specific primer pairs were successfully designed and simultaneously amplified the targeted genes. The analytical sensitivity of the quadriplex PCR at the DNA level was found to be 50 ng DNA. The analytical specificity was evaluated with 11 reference protozoal and bacterial strains and was found to be 100%. We concluded that the developed quadriplex PCR assay was rapid and gave results within 5 hours which is essential for the identification of parasitic pathogen and might be useful as an additional diagnostic tool whenever time is important in the diagnosis of parasite that cause diarrhoea.

Genotype and malocclusion in patients with osteogenesis imperfecta.

OBJECTS: To investigate the relationship between genotype and severity of malocclusion in osteogenesis imperfecta (OI). SETTING AND SAMPLE POPULATION: A total of 49 patients participated in this cross-sectional study (age range: 5-19 years; 28 females; diagnoses: OI type I, N = 7; OI type III, N = 11; OI type IV, N = 27; OI type V, N = 2; OI type VI, N = 2). MATERIALS AND METHODS: Sequence analysis of COL1A1/COL1A2 and other OI-related genes was compared to the Peer Assessment Rating (PAR), an index reflecting the severity of malocclusion. RESULTS: The mutation spectrum was as follows: COL1A1, N = 22; COL1A2, N = 22, IFITM5, N = 2; SERPINF1, N = 2; no mutation detected, N = 1). Compared to patients with COL1A1 mutations, patients with COL1A2 mutations had significantly higher scores for total PAR, anterior cross-bite, anterior open bite and anteroposterior buccal occlusion. Males with COL1A2 mutations had significantly higher total PAR scores than females (median 36 vs 30, P = .047, Mann-Whitney test). Exploratory correlation between age and buccal vertical occlusion was noted in patients with COL1A2 mutations (Spearman correlation: r = .46, P = .03, power = .50). Two patients with OI type V (caused by IFITM5 mutations) had total PAR scores of 44 and 21. Both patients scored high for "segment." Patients with OI type VI (due to SERPINF1 mutations) scored similar to OI type V for "centreline." Considerable difference was observed in the total PAR score between the 2 patients with OI type VI. They had total PAR of 43 and 2. CONCLUSION: Type of disease-causing mutation affects the severity of malocclusion in individuals with OI.

Regulation of in vitro bud formation of date palm (Phoenix dactylifera L.) cv. Khanezi by different carbon sources.

The influence of different carbon sources and concentrations on in vitro shoot multiplication of date palm cv. Khanezi were investigated. Sucrose, glucose, fructose and maltose sugars were used at the following concentrations; 0, 30, 60, 90 and 120 g l(-1). Shoot dry weight was significantly increased with increasing sugar concentrations while little growth was obtained in the absence of sugar. Concentrations of 30 and 60 g l(-1) were optimal for qualitative and quantitative shoot growth while abnormal growth was observed at 90 and 120 g l(-1) possibly due to osmotic stress. Sugar type had significant effects on most parameters measured except bud formation. Fructose produced the highest values of dry weights compared with other carbon sources. In addition, glucose, fructose and maltose were almost equivalently effective as a carbon source for culture of date palm compared with sucrose. It is also noticed in this study that the root formation was enhanced as the sugar concentration increased (60 g l(-1) and above). This rooting of buds generally reduced their ability to multiply during multiplication stage and occasionally inhibited bud formation especially in higher concentration of sugar.

Analytical calculation of the longitudinal space charge and resistive wall impedances in a smooth cylindrical pipe.

The longitudinal space charge and resistive wall impedances have been investigated in a smooth cylindrical beam pipe. At any point from the beam axis, we obtained an expression for the total impedance, which at the beam surface r=a for infinite pipe wall conductivity gives the expression for the total impedance that was derived by Zotter and Kheifets in studying the impedance of uniform beams in concentric cylindrical wall chambers, when a single cylindrical chamber is considered [B. W. Zotter and S. A. Kheifets, Impedances and Wakes in High-Energy Particle Accelerators (World Scientific, Singapore, 1998), Chap. 6]. A fitting formula for the space-charge impedance at the beam surface (r=a), which is valid for arbitrary wavelengths, is given. Rather than calculating the impedance with the field on the axis [Joseph J. Bisognano, Fifth European Particle Accelerator Conference (EPAC96), edited by S. Myers, A. Pacheco, R. Pascual, Ch. Petit-Jean-Genaz, and J. Poole (Institute of Physics, Bristol, 1996), Vol. 1, p. 328], the fitting formula is obtained by averaging over the transverse beam distribution. We also give another approach for the calculation of the resistive wall impedance using the flux of the Poynting vector at the pipe wall and then compare it with the expression obtained from the volume integral over the beam distribution.

Continuous darkness and continuous light induce structural changes in the rat thymus.

It is known that neuroendocrine responses to environmental stimuli, such as light, can influence immune responses through the pineal gland. It is also known that periods of constant darkness and constant light cause stimulation and inhibition of melatonin secretion from the pineal gland, successively. In this study, we provide experimental evidence that changes in the rhythm of the photoperiod have considerable effects on thymic structure of the rat. Male albino Wistar rats were divided into 3 groups. Group 1 rats were kept in a dark room, group 2 in a room under a bright artificial light and group 3 (control) animals were exposed to a 12:12 h light: dark cycle. All animals were killed after 4 wk. In group 1, thymus weight increased by 315%, the increase in volume affecting the medulla (cortex 190%, medulla 655%). The absolute number of epithelial cells and lymphocytes increased both in the cortex and medulla. Thymic cortical epithelial cells were hypertrophied and contained numerous large clear vesicles. Perivascular spaces were enlarged. In group 2 thymus weight decreased by 53%, the reduction in volume affecting mainly the cortex (cortex 61%, medulla 27%). The absolute numbers of cortical epithelial cells and lymphocytes were decreased, and pyknotic lymphocyte nuclei were frequent both in the cortex and medulla. It is concluded that constant darkness causes hypertrophy and increased cellularity of the thymus, while constant light causes involution of the thymus and death of lymphocytes. These changes possibly reflect the well known immunostimulatory effects of melatonin acting directly or indirectly, on the thymic lymphocytes and epithelial cells.