Spontaneous Tumor Lysis Syndrome in an Infant: A Case Report

Tumor lysis syndrome has been observed in patients with malignancies with high cellular burden and high cell turnover, tumor sensitive to therapy, especially after initiating medical treatment. It very rarely occurs spontaneously. The case described here is of 6 months male infant who presented with fever since 1 month and loose stools associated with blood since 15 days. The laboratory investigations showed lactate dehydrogenase (LDH) of 6,192 IU/L and serum uric acid 18.2 mg/dl along with pancytopenia. The infant presented with electrolyte abnormalities and renal failure.     

Intravascular haemolysis during prolonged running on asphalt and natural grass in long and middle distance runners

Surface features such as uneven playing surfaces, low impact absorption capacity and inappropriate friction/traction characteristics are connected with injury prevalence whereas force impact during foot strike has been suggested to be an important mechanism of intravascular haemolysis during running. We aimed to evaluate intravascular haemolysis during running and compare the effect of running on two different types of surfaces on haemolysis. We selected two surfaces (asphalt and grass) on which these athletes usually run. Participants were randomly assigned to group A (asphalt) or group B (grass) with 10 athletes in each group. Each athlete completed one hour of running at the calculated target heart rate (60-70%). Venous blood samples were collected before and immediately after running. We measured unconjugated bilirubin (UBR) (mg · dl(-1)), lactate dehydrogenase (LDH) (μ · ml(-1)), haemoglobin (g · l(-1)) and serum ferritin (ng · ml(-1)) as indicators of haemolysis. Athletes who ran on grass demonstrated an increase in the haematological parameters (UBR: P < 0.01, LDH: P < 0.05) when compared to athletes who ran on asphalt (UBR: P < 0.05, LDH: P = 0.241). Our findings indicate that intravascular haemolysis occurs significantly after prolonged running. Furthermore, we conclude that uneven grass surface results in greater haemolysis compared to asphalt road.     

Correlation of Serum Homocysteine Levels with the Severity of Coronary Artery Disease

Coronary artery disease (CAD) has become the most common cause of mortality in the entire world. Homocysteine is implicated as an early atherosclerotic promoter. We studied the relationship between levels of serum homocysteine with severity of coronary artery disease. Total of 70 subjects who scheduled for coronary angiogram consented to participate in this study. In all the patients Gensini scoring system was used to assess the severity of CAD. Venous samples were taken from the patients in fasting state before angiography. Homocysteine levels in patients were measured by enzyme linked immunosorbant method and were compared with respective Genseni scores of participants. Fasting serum homocysteine levels in CAD patients were significantly higher than patients without coronary artery disease (p < 0.001). Also Homocyseine levels correlated significantly with increasing severity of CAD (p < 0.001). Serum homocysteine levels correlated well with the severity of CAD.     

A Case of Sanfillippo’s Disease Correlating Clinical and Biochemical Findings

The mucopolysaccharidoses (MPSs) are a heterogeneous group of rare inherited disorders caused by deficiency of lysosomal enzyme necessary to break down mucopolysaccharides or glycosaminoglycans (GAGs). We had combined clinical findings and ophthalmological features. Biochemical test for urine glycosaminoglycans was done for confirmation of diagnosis in the patient. The case of Sanfillippo’s disease was characterized by delayed development, hyperactivity with aggressive behaviour. Coarse facial feature, hirsutism and sleep disorder. Urine GAG tests for MPS was positive in the case. Based on clinical findings and biochemical tests for MPS, this case was diagnosed as a type III mucopolysaccharidoses. Urinary GAG’s electrophoresis is an important screening test for MPS suspected cases.     

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.     

Diagnostic Utility of Cord Blood Thyroid Stimulating Hormone in Congenital Hypothyroidism in the Era of Expanded Newborn Screening

Even in the era of expanded newborn screening, utility of cord blood thyroid stimulating hormone (cTSH) for diagnosis of congenital hypothyroidism (CH) cannot be marginalised. This study was to assess the diagnostic utility of cTSH > 20 μIU/L for screening CH. Generation of new cTSH value was the main outcome measure, to increase specificity. Designed as a cross-sectional analytic study in the neonatal unit of teaching hospital, 1200 term neonates with birth weight ≥2500 g, with no perinatal complications were included. Newborn cTSH assay was done by chemi-luminescence. All screen positive were followed up on day five, 14 and 28 of life, to rule in or out CH (true or false positive). Positive predictive value and specificity were calculated. Receiver operating characteristic (ROC) was done to assess diagnostic accuracy of cTSH > 20 μIU/L and to ascertain new cut-off to reduce false positivity. Of 1200 newborns screened, 69 (5.8%) were screen positive and followed up. In five, CH was confirmed (true positive); one in 240 newborns required thyroxine therapy. False positivity was noted in 59. Recall and dropouts were 6.25 and 7.2% respectively. Median cTSH of screen, true and false positives were 28.8, 43.5 and 27.2 μIU/L respectively. Comparison of median values of cord blood (U = 59; p = 0.017) and day five serum TSH (U = 0.0; p < 0.001) among true and false positive subjects were statistically significant. Specificity calculated was 94.6% and positive predictive value 7.25%. ROC generated new permissible cTSH cut-off value of 30 μIU/L. In conclusion, an extended cTSH cut-off value of 30 μIU/L improves specificity.     

Noises in the attic: The legacy of expectations in the academy

This process-video on the topic of graduate students and junior faculty of color in higher education represents musings around the issues that are involved in racism and the assumptions that are a part of that ideology. Using the lens of Critical Race Theory as described by Bell (1987), the conversations that took place in a video-recording studio were analyzed for themes that represent the experience of being "the fly in the milk," at a White academic institution. "How do we talk to whiteness?" is the central theme that organizes this discussion of the videotape "Noises in the Attic: Conversations with Ourselves. "The participants talk about alienation, as described in sections called "Noises," "The White Man's Scrapbook," "Between and Betwixt," and "Filling in the?" A realization that there is a need to understand that White people operate from a different perspective than nonwhite people rounds off the discussion of being a noise in the attic of the White academic environment.     

Fatty Acid Oxidation Disorder with Secondary Mitochondrial Energy Production Defect: A Case Report

The presentation of long-chain fatty acid oxidation disorders (FAOD), unlike short and medium-chain disorders can be with secondary defects in mitochondrial function along with typical features of FAOD. We report an infant with Reye-like presentation and acylcarnitine profile suggestive of very-long-chain acyl-CoA dehydrogenase deficiency who had lactic acidosis and urine gas chromatographic pattern of mitochondrial defects.