Urinary cystine calculi and detection of polymorphism in the SLC3A1 gene in Sudanese children

To investigate polymorphism in exon 8 of the SLC3A1 gene in children with urinary cystine calculi in Khartoum. A semi-quantitative chemical method was used to analyse 175 urinary calculi removed surgically from paediatric patients at Soba Teaching Hospital in Khartoum between October 2005 and May 2009. DNA was extracted with phenol chloroform isoamyl alcohol, and exon 8 of the SLC3A1 gene was amplified in a thermocycler and sequenced with an AB3130 genetic autoanalyser. Of the 175 stones, 10 were cystine calculi [5.7%]. The sex ratio of the patients was 2.3:1 [boys to girls], and the mean age at cystine stone onset was 31.1 +/- 28.2 months [range, 3-125 months]. Of the 10 patients, 8 had a positive family history of calculi formation, 4 had bilateral calculi, 3 had both renal and urinary bladder calculi, and 2 had obstructive acute renal failure. All patients required more than one surgical operation. One patient had a missense mutation M467K in exon 8 of the SLC3A1 gene. The prevalence of cystine calculi among urinary calculi in Sudanese children was 5.7%. A family history was found in 80% of children. A mutation [M467T] was identified at exon 8 of the SLC3A1 gene in one child

Metabolic aspects of skeletal muscles

Differences in the metabolic patterns of the skeletal muscles are biochemically important. Muscle performance declines during intense activity due to changes in some metabolic and physiological events. This review illustrates how biochemical knowledge illuminates the response of muscular tissues to such changes

Neurotransmitters - a biochemical view

The neurotransmission at most if not all synapses is chemical and is of great biochemical, physiological and pharmacological importance. Neurons communicate with each other at synapses by a process called synaptic transmission which is the release of small quantities of chemical messengers, called neurotransmitters that alter the electrical activity of neurons after they interact with receptors on post-synaptic cell surfaces. This review gives a biochemical view on the nature of neurotransmitters and presents the biochemical chart and the medical relevance of the most important neurotransmitters

effect of some maternal risk factors in glucose tolerance impairment among Sudanese pregnant women in the third trimester

To show the effect of some maternal risk factors in glucose tolerance impairment in pregnancy, a study was carried out on thirty pregnant women with gestational diabetes mellitus, thirty ones with impaired glucose tolerance and thirty control ones with normal glucose tolerance. Age and parity of the GDM and the IGT groups were significantly greater than that of the control group: 32.77 +/- 5.08 years [mean +/- S.D.], 31.1 +/- 6.04 vs 23.93 +/- 4.46 respectively, p<0.0001 and 5.23 +/- 2.69, 5.6 +/- 3.07 vs 2.77 +/- 1.48 respectively, p< 0.0001. Also, The GDM and the IGT groups were found to have a family history of diabetes and previous heavy babies, incidence significantly higher than that of the control group. Finally, it was concluded that Age, parity, previous heavy babies' incidence and family history of diabetes are very important maternal risk factors that affect glucose tolerance in pregnancy

Human placental lactogen and glucose intolerance in pregnancy: a study on Sudanese pregnant women

To stand on the role of human placental lactogen and its interconnection with cortisol in augmentation of glucose intolerance in pregnant women, a study was carried out on Sudanese pregnant women in the third trimester. There were no significant differences among the mean levels of fasting serum insulin of the studied groups [12.29 +/- 0.83 micro lU/ml [mean +/- S. E.], 14.93 +/- 2.17 and 12.39 +/- 2.52 for the GDM, IGT and control groups respectively, p = 0.27]. The 2h-serum insulin mean level of the IGT group was not significantly higher than that of the control group but significantly higher than that of the GDM group [68 +/- 6.71 vs 54.88 +/- 8.15 and 36.5 +/- 3.06 for the IGT, control and GDM groups respectively, p < 0.002]. Also, it was found that the GDM and the IGT groups have significantly higher mean levels of serum cortisol than that of the control group [33.71 + 2.86 [micro g/dl], 28.57 +/- 2.18 vs 21.48 +/- 1.11 respectively, p < 0.0003]. Results of serum hPL of the GDM and that of the IGT groups were not significantly higher than that of the control group [6.85 +/- 0.58 [micro g/ml] and 7.15 +/- 0.49 vs 5.73 +/- 0.24 respectively, p = 0.2]. Finally, it was concluded that insulin resistance in pregnancy is augmented by the effect of hPL and cortisol. When the insulin resistance is so large that pregnant women can not overcome it, glucose deterioration develops and some women become with impaired glucose tolerance while others develop gestational diabetes mellitus