Glutaric acidemia type 1 (GA1) is a rare inherited metabolic disorder which goes underdiagnosed due to its latency period and subtle presentation. A pilot clinical study was conducted to assess the usefulness, specificity and sensitivity of the tandem mass (MS/MS) spectrometer, specifically the Abbott (AB) Sciex 3200, in the screening for GA1 using dried blood spots. A total of 17,100 specimens, comprising pediatric patients and healthy newborns, were screened from June 2012 to June 2014. A selection criterion was applied to increase the range of samples tested. 14 of the total specimens tested presumptive positive for GA1, of whom all were symptomatic. The diagnosis was confirmed in 4 of the 14 cases and they were started on treatment. 4 cases expired before confirmation. The remaining cases were empirically started on treatment. Most of the patients responded favorably to the dietary management. One important observation was that the older symptomatic children diagnosed with GA1 had poorer outcomes in terms of recovery of delayed milestones and mental deterioration, further emphasizing the need for early diagnosis of organic acidemias along with the other biochemical defects. Tandem mass spectrometry was found to be more than 93.33% sensitive and more than 99.42% specific. The screening test proved to be very simple and economical.
BACKGROUNDLevothyroxine (LT4) therapy has shown to have effects on bone metabolism though its deleterious effect on bone remodeling is debatable. This study was aimed at assessing the diagnostic utility of the bone remodeling marker C-terminal telopeptide (CTx) in detecting early bone loss.MATERIALS AND METHODSIn this case–control study, 84 premenopausal women of 30–45 years of age were selected. Out of them, 28 were recently diagnosed of hypothyroidism (not on LT4), 28 were on LT4 replacement therapy (100–200 μg/day) for more than five years, and 28 had euthyroid. Plasma CTx levels were estimated. Bone mineral density (BMD) was measured by quantitative ultrasound (QUS) method. Pearson’s coefficient of correlation and ANOVA were used for statistical analysis.RESULTSCTx was most elevated in LT4-treated group (0.497 ± 0.209 ng/mL). It showed a significant negative correlation with T-score and Z-score of BMD values. In the treatment group of more than 150 μg/day, CTx showed significantly negative correlation with TSH (r = −0.462, P = 0.047).CONCLUSIONLT4 therapy induces bone loss in hypothyroid patients. CTx levels can measure such bone loss along with BMD. Regular monitoring of CTx with adjustment in LT4 doses may help delay osteoporosis induced by prolonged LT4 replacement therapy.
To assess the role of microalbuminuria in pre-eclampsia (PE) as a diagnostic marker, we studied 40 PE cases and 40 normotensive controls at 24 ± 4 weeks of gestation in women 20-35 years of age. The patients with PE had significant microalbuminuria in comparison with the controls, in addition to deranged renal function tests. The receiver operating characteristic curve showed that microalbuminuria had the highest sensitivity (100%) and good specificity (77.6%). Microalbuminuria had the highest area under the curve (0.869) for both diagnosis of PE and renal function assessment. Microalbuminuria also had a good correlation with systolic blood pressure in the cases with mild grades of renal dysfunction. Microalbuminuria is a specific marker in PE and it also helps to assess the renal function status. Therefore, microalbuminuria may be used in the early diagnosis and management of PE patients in order to reduce the immediate and long-term complications.
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