Biochemical Basis of Heterogeneity in Acute Presentations of Propionic Acidemia

Propionic acidemia (PA), an uncommon organic acidemia has varied clinical and metabolic presentation causing difficulty and delay in the diagnosis. We report a case of PA in an infant who presented with failure to thrive, acute encephalopathy due to severe hyperammonemia without acidosis and fungal sepsis. The biochemical basis of severe hyperammonemia is discussed.     

Limits and potentials of social networking in academia: case study of the evolution of a mathematics Facebook community

The use of social networking services has rapidly increased in recent years, especially by university students. Some authors assert that they have educational potential in terms of promoting collaborative learning practices among undergraduate students which enhance engagement and understanding. This possibility is particularly relevant to mathematics learning, because university communities are frequently experienced as isolating and performance-oriented. This case study reports on the use of Facebook to support mathematical communication and more participative learning identities within a UK university mathematics department. It describes how the reactive formation of a student-led Facebook community became a source of conflict within the wider academic social community and how this conflict was eventually resolved. While it raises questions about the extent to which Facebook can encourage open collaborative learning within the wider context of student aspirations in a competitive climate, it notes its potential for fostering cross-cohort student support in a subject which frequently induces anxiety in its students.     

Program exclusivity and competition in the cable television industry

The authors argue that program exclusivity will be an important factor in the future of the cable television industry. They assert that prohibiting cable program exclusivity may limit the First Amendment rights of cable programmers and operators. The authors conclude that the best chance for increasing competition if program exclusivity continues is to increase the number of market participants.     

Significance of Vitamin D Binding Protein in Assessing Vitamin D Status Among Under-Five Children

Despite ample sunshine, 50–90% Indian children have Vitamin D deficiency (VDD). This enigma of widespread VDD needs exploration especially among under-fives as physiological variations in Vitamin D Binding Protein (VDBP) levels could be potential confounders in the interpretation of total 25-hydroxyvitamin D [25(OH)D]. However, there is scarce information about relevance of VDBP levels in under-five age group. We therefore, explored association of VDBP levels among 1–5 year old children with VDD. Serum levels of 25(OH)D, VDBP, calcium, parathyroid hormone (PTH) and alkaline phosphatase were estimated in 210 apparently healthy children in the age group of 1–5 years. VDD was defined as serum 25(OH)D levels < 20 ng/ml as per the IOM classification. VDBP levels were classified as low if levels were < 168 μg/ml as per the kit. The prevalence of VDD was 79.5% (n = 167) and VDBP levels were low in 48.6% (n = 102) of children. 25(OH)D levels correlated positively with VDBP (r = 0.298, p = 0.0001). A significant number of children (52.7%) with VDD had low VDBP (p = 0.015). and despite adequate sun exposure, 43% of children showed VDD and 56.6% had low VDPB levels. The low VDBP levels largely explain low 25OHD levels without necessarily implying VDD. It may add a new dimension for better understanding of widespread VDD among under-five children. It thus, points towards the need for redefining cut offs and complete evaluation of vitamin D status among under-fives including VDBP.     

A review of ranking approaches for semantic search on Web

With ever increasing information being available to the end users, search engines have become the most powerful tools for obtaining useful information scattered on the Web. However, it is very common that even most renowned search engines return result sets with not so useful pages to the user. Research on semantic search aims to improve traditional information search and retrieval methods where the basic relevance criteria rely primarily on the presence of query keywords within the returned pages. This work is an attempt to explore different relevancy ranking approaches based on semantics which are considered appropriate for the retrieval of relevant information. In this paper, various pilot projects and their corresponding outcomes have been investigated based on methodologies adopted and their most distinctive characteristics towards ranking. An overview of selected approaches and their comparison by means of the classification criteria has been presented. With the help of this comparison, some common concepts and outstanding features have been identified.     

Sickle Cell Trait Presenting as Chronic Calcific Pancreatitis with Pseudocyst- A Case Report

Sickle cell disease is known to cause acute pancreatitis either due to gall stones obstructing the pancreatic duct or by vaso-occlusive mechanism. However chronic pancreatitis is a very rare complication in sickle cell anemia. We report a case of sickle cell trait presenting with chronic pancreatitis with pseudo cyst. USG abdomen and CT abdomen confirmed the diagnosis of chronic calcific pancreatitis with pseudocyst. Etiological work up for other causes did not reveal anything except sickle cell trait. This case represents a rare association between chronic calcific pancreatitis and sickle cell trait.     

Mutation Analyses in Selected Exons of the MUT Gene in Indian Patients with Methylmalonic Acidemia

Deficiency or diminished activity of a cobalamin dependent enzyme methylmalonyl-CoA mutase causes inborn error of metabolism called methylmalonic acidemia (MMA). In this study we elucidated the spectrum of mutations in 21 Indian mut MMA patients by direct sequencing. Sequence analysis identified a total of 70 mutations in exon 2, 9, 11 and 12 of MUT gene. Out of which 26 mutations were predicted to be deleterious and rest were benign. The 23 novel mutations consist of four nonsense mutations (p.N6*, p.G539*, p.E609* and p.I671*), twelve missense mutations (p.K128I, p.N547T, p.D554Y, p.A558T, p.R559P, p.A631T, p.I647T, p.E656D, p.V657E, p.Q660H, p.K679N, and p.G696Y) and seven frame shift mutations (c.375_376insA, c.1642delA, c.1655delC, c.1825_1826insT, c.1957delGA, c.2014delA and c.2062_2063insGA). All of them are point mutations or micro rearrangements. Three of these mutations (p.K621N, p.G648D, p.G630E) have been previously reported; all of them are missense mutations. The mutations are distributed throughout the exon 2, 9, 11 and 12, 38.4 % mutation are located in exon 12.     

Apolipoprotein E4 polymorphism as risk factor for coronary heart disease among Indian subjects

Apolipoprotein E genotypes and lipid and lipoprotein levels were determined in hypercholesterolemic and angiographically vertified CHD subjects and compared against 90 normolipidemic controls. The ε4 allele was significantly prevalent in the hypercholesterolemic and CHD subjects. Significant increase in total cholesterol levels in apo ε4 containing subjects were observed in the hypercholesterolemic and CHD group. The study suggests that the ε4 allele by influencing the lipid levels could act as a risk factor for CHD.     

Oxidant-antioxidant status in colorectal cancer patients—Before and after treatment

Erythrocyte antioxidant glutathione and malondialdehyde levels in erythrocytes and plasma glutathione S-transferase levels were estimated in patients with colorectal cancer and compared to controls. Further, the patients underwent four weeks of radiotherapy with adjuvant chemotherapy. The same parameters were estimated after four weeks of radiotherapy and compared with pretreatment levels. It was observed that there was a decrease in erythrocyte glutathione and malondialdehyde levels in patients with colorectal cancer compared to controls, but not in case of GST. However, after chemoradiotherapy, there were no statistically significant differences in all the parameters studied.     

Interpreting HbA1c in Presence of Deficiency Anemias

HbA1c is used extensively for the diagnosis and management of diabetes mellitus. It constitutes 80% of glycated HbA1(Glycated haemoglobin(GHb)A), and depends upon blood glucose and RBC life span. RBC life span varies with anemia, leading to a consequent alteration in the HbA1c value irrespective of the circulating blood glucose concentration. But to the best of our knowledge no Hb cut offs have been derived for appropriate interpretation of HbA1c. The prevalence of anemia in Indian population is nearly 40% as per its definition by WHO—Hb < 12 g/dL in females and < 13 g/dL in males—with most cases attributable to nutritional deficiencies. Hence, we aimed to identify Hb cut-off for accurate interpretation of HbA_1c in presence of deficiency anemias. Partial correlation between random blood glucose (RBG) and HbA_1c was studied in 1312 subjects, 470 of whom had deficiency-related anemia]. The data was adjusted for age, sex and Hb. Partial correlation between RBG and HbA1c was highly significant (p < 0.0001) till Hb of 8.1 gm/dL. Significance reduced to p = 0.003 and p = 0.006 as the cut off of Hb reduced to 7.1 gm/dL and 5.0 gm/dL, respectively, but was not lost. Hence, caution in interpretation of HbA_1c is not required till an Hb of 5 g/dL.