Hypocalcemia in an 11 Year Old Child: <Emphasis Type="Italic">A Difficult Case to Treat</Emphasis>

Hypocalcemia is a laboratory and clinical abnormality that is observed especially in neonates and paediatric patients. Laboratory hypocalcaemia is often asymptomatic but it can manifest as central nervous system irritability, paraesthesia, tetany (i.e. contraction of hands, arms, feet, larynx, bronchioles), seizures, and even psychiatric changes in children. Cardiac function may also be impaired because of poor muscle contractility. We report a unique case of an eleven year old male child who presented with chronic kidney disease associated with severe hypocalcemia, tonic-clonic seizures, hypovitaminosis D but normal electroencephalogram and electrocardiography. The child required prolonged intravenous calcium gluconate therapy to correct his ionised calcium levels.     

A Study on the Level of T<Subscript>3</Subscript>, T<Subscript>4</Subscript>, TSH and the Association of A/G Polymorphism with CTLA-4 Gene in Graves’ Hyperthyroidism among South Indian Population

Graves’ disease (GD) is an organ-specific heterogenous autoimmune disorder associated with T-lymphocyte abnormality affecting the thyroid, eyes and skin. GD is a multifactorial disease that develops as a result of complex interaction between genetic susceptibility genes and environmental factors. It has been suggested that the Cytotoxic T lymphocytes associated molecule-4 (CTLA-4) is a genetic susceptibility candidate for GD. The present study was focused on A/G polymorphism at position 49 in exon-1 of the CTLA-4 gene in 80 GD patients (GP) and 80 sex and age matched healthy individuals among South Indian (Madurai) population. Serum concentrations of thyroid hormone (T₄, T₃ and TSH) were determined by using automated analyzer. The genomic DNA was isolated from the patient and control groups and genotyping was performed using the polymerase chain reaction followed by restriction enzyme analysis using Bbv1. Significant difference (P < 0.001) was observed in the level of T₃, T₄ and TSH in GD patients and healthy individuals. The results revealed the CTLA-4 gene G/G genotype to be 32 (40%) in patients and 26 (32.50%) in healthy individuals, A/G genotype to be 37 (46.25%) in patients and 25 (31.25%) in healthy individuals and A/A genotype to be 11 (13.75%) in patients and 29 (36.25%) in healthy individuals. The calculated odds ratio (OR) in individuals with mutant genotype (GG/AG) reveal 3.6 fold risk for GD (95% confidence interval = 1.6–7.8). The mutant “G” allele frequency was observed to be 0.63 in GD patients and 0.48 in healthy individuals. Thus the present study demonstrates an association between the CTLA-4 gene polymorphism and Graves’ disease.     

A Pilot clinical study to evaluate the effect of <Emphasis Type="Italic">Emblica officinalis</Emphasis> extract (Amlamax™) on markers of systemic inflammation and dyslipidemia

Emblica officinalis Gaertn., commonly known as the Indian gooseberry or “Amla”, has been used as health food for centuries in India and other Asian countries. The biological effects of amla have been attributed to the antioxidant properties of the low-molecular weight hydrolysable tannins present in the fruit. Amlamax™ is a purified, standardized, dried extract of amla containing about 35% galloellagi tannins along with other hydrolysable tannins. Our earlier studies on rabbits showed significant reduction in total cholesterol and triglycerides as well as increase in HDL. The present study extends these results to human volunteers. Two doses of the extract were evaluated — 500 mg and 1000 mg per day for 6 months. Blood samples were collected at the 3rd and 6th months showed reduction in total and LDL cholesterols and enhancement of beneficial HDL cholesterol. In addition, blood CRP levels, a marker for inflammation, were also significantly reduced. Since dyslipidemia and inflammation are the two major components of cardiovascular diseases, the present results must be considered encouraging and indicate the potential of Amlamax™ in the management of heart diseases.     

Phenotypic Heterogeneity of Asian Indian Inversion Deletions Gγ(Aγδβ)0 Breakpoint A and Breakpoint B

Asian Indian inversion deletion Gγ (Aγδβ)0-thalassemia is a rare entities characterized by high HbF. Due to interaction with various genetic factors, patients with Gγ (Aγδβ)0-thalassemia showed clinical variability. Here we are presenting the phenotypic expression of Gγ(Aγδβ)0 thalassemia under influence of various co-inherited factors. Patient with α-globin gene deletion had mild phenotype than the patient with β-globin mutations. Patient with alpha gene deletion were presenting clinical character like thalassemia intermedia while Gγ (Aγδβ)0-thalassemia patients with co- presence of beta thalssemia mutation clinically behaved like thalassemia major.     

Two for the price of one?: Additionality effects of R&D subsidies: A comparison between Flanders and Germany

We empirically test whether public R&D subsidies crowd out private R&D investment in Flanders and Germany, using firm level data from the Flemish and German part of the Community Innovation Surveys (CIS III and IV). Both the non-parametric matching estimator and the conditional difference-in-differences estimator with repeated cross-sections (CDiDRCS) clearly indicate that the crowding-out hypothesis can be rejected: funded firms are significantly more R&D active than non-funded firms. In the domain of additionality effects of R&D subsidies, this paper is the first to apply the CDiDRCS method.     

Gay-Lussac (1778–1850): A view of chemistry,industry and society in post-revolutionary France

This year marks the bicentenary of the births of two distinguished chemists, Joseph Gay-Lussac and Humphry Davy. This study of the life of Gay-Lussac shows how his work was related to that of Davy as well as to that of his French contemporaries. His keen interest in the application of chemistry earned him some criticism in his lifetime, but in retrospect can be seen to have contributed to his professional stature.     

The Roles of Fibroblast Growth Factor (FGF)-23, α-Klotho and Furin Protease in Calcium and Phosphate Homeostasis : A Mini-Review

The roles of calcitonin, parathormone and calcitriol in the regulation of plasma calcium and phosphate are well-established. However, in autosomal-dominant hypophosphatemic rickety patients, studies have revealed normal plasma levels of calcium, associated with normal thyroid and parathyroid functions, but decreased levels of phosphate and calcitriol despite adequate reserves of vitamin D. Also, in tumoral calcinosis, persistent hyperphosphatemia with increased levels of 1,25(OH)₂D₃ have been observed. These studies indicate the involvement of factors other than the ones already known. The first decade of this century/millennium has led to the discovery of the involvement of fibroblast growth factor-23, furin protease and α-klotho in the homeostasis of calcium and phosphate, which is the subject of this mini-review.