Suruchi Jain

Newborn screening for congenital hypothyroidism, galactosemia and biotinidase deficiency in Uttar Pradesh, India

ObjectiveTo assess feasibility and recall rates for newborn screening for congenital hypothyroidism, galactosemia and biotinidase deficiency in a predominantly rural and inner city population in and around the City of Lucknow in Uttar Pradesh, India.DesignProspective observational study.SettingTwo tertiary-care and 5 district hospitals in and around Lucknow.ParticipantsAll babies born in above hospitals during the study period.MethodsHeel prick samples were collected after 24 hours of life. Dried blood spot TSH, total galactose and biotinidase were assayed by immunofluorometry. Age related cut-offs were applied for recall for TSH. For galactosemia and biotinidase deficiency, manufacturer-suggested recall cut-offs used initially were modified after analysis of initial data.Main outcome measureRecall rate for hypothyroidism, galactosemia and biotinidase deficiency.ResultsScreening was carried out for 13426 newborns, 73% of all deliveries. Eighty-five percent of those recalled for confirmatory sampling responded. Using fixed TSH cut off of 20 mIU/L yielded high recall rate of 1.39%, which decreased to 0.84% with use of age-related cut-offs. Mean TSH was higher in males, and in low birth weight and vaginally delivered babies. Eleven babies had congenital hypothyroidism. Recall rates with modified cut-offs for galactosemia and biotinidase deficiency were 0.32% and 0.16%, respectively.ConclusionAn outreach program for newborn screening can be successfully carried out in similar socio-cultural settings in India. For hypothyroidism, the high recall rate due to early discharge was addressed by age-related cut-offs.

Pachygyria/hypogenitalism : A monogenic syndrome

We describe the clinical and neuroimaging findings of two severely retarded boys born to consanguineous parents. This appears to be a monogenic condition of abnormal neuronal migration associated with hypogenitalism. Reports of other monogenic syndromes of neuronal migration abnormalities are reviewed.

Left ventricular remodeling after late revascularization correlates with baseline viability.

The ideal management of stable patients who present late after acute ST-elevation myocardial infarction (STEMI) is still a matter of conjecture. We hypothesized that the extent of improvement in left ventricular function after successful revascularization in this subset was related to the magnitude of viability in the infarct-related artery territory. However, few studies correlate the improvement of left ventricular function with the magnitude of residual viability in patients who undergo percutaneous coronary intervention in this setting. In 68 patients who presented later than 24 hours after a confirmed first STEMI, we performed resting, nitroglycerin-enhanced, technetium-99m sestamibi single-photon emission computed tomography-myocardial perfusion imaging (SPECT-MPI) before percutaneous coronary intervention, and again 6 months afterwards. Patients whose baseline viable myocardium in the infarct-related artery territory was more than 50%, 20% to 50%, and less than 20% were divided into Groups 1, 2, and 3 (mildly, moderately, and severely reduced viability, respectively). At follow-up, there was significant improvement in end-diastolic volume, end-systolic volume, and left ventricular ejection fraction in Groups 1 and 2, but not in Group 3. We conclude that even late revascularization of the infarct-related artery yields significant improvement in left ventricular remodeling. In patients with more than 20% viable myocardium in the infarct-related artery territory, the extent of improvement in left ventricular function depends upon the amount of viable myocardium present. The SPECT-MPI can be used as a guide for choosing patients for revascularization.

Estimation of prevalence of pretreatment renal insufficiency and use of mathematical formulae to assess the renal dysfunction in patients of head and neck cancers undergoing concurrent chemoradiotherapy in Northern India

Background: Cisplatin (CDDP)-based concurrent chemoradiotherapy (CRT) is the standard of care in locally advanced head and neck cancers (HNCs). CDDP, a known nephrotoxic drug, has been administered in three different protocols. Baseline renal function needs to be known before CRT. Renal function can be measured directly by measuring the measured glomerular filtration rate (mGFR) using radioisotope and indirectly by either serum creatinine (SCR) levels or estimated GFR (eGFR) using mathematical formulae “abbreviated modification of diet in renal disease (aMDRD)” and “Cockcroft–Gault (CG).” The present study was performed to see the prevalence of pretreatment renal insufficiency (RI) in HNC patients and to find a realistic method using CG and aMDRD formulae for assessing RI instead of doing mGFR and to compare the nephrotoxicity in three CDDP protocols. Materials and Methods: The study was carried out between January 2005 and December 2006. Consecutive patients of HNC undergoing RT/CRT were included. Renal function using parameters SCR, mGFR, and eGFR using CG and aMDRD formulae was estimated for pre- and post-treatment and during follow-up. Results: Of 295 eligible patients, baseline prevalence of RI was in 17% by mGFR, 6% by SCR, 13% by aMDRD, and 41% patients by CG formula. aMDRD correlated better than CG with the mGFR. Of the 145 patients of CRT, pretreatment RI was seen in 9% by aMDRD and 30% by CG formula as compared to 12% by mGFR and post treatment RI was seen in 12% by aMDRD and 43% by CG formula. All the three CDDP protocols showed similar fall in GFR post treatment, and late renal injury at 6 months was seen in 2%, 4%, and 3%, respectively. Conclusions: RI exists in HNC patient. RI assessment by SCR is inadequate and should be done by eGFR estimation using aMDRD or CG formula if not able to do mGFR. Different CDDP protocols have similar nephrotoxicity.

The Need for a Low-Expense Universally Acceptable rhTSH Protocol

TO THE EDITOR: Thyroid cancer is a rare malignancy (1). Most cases are of well-differentiated epithelial papillary and follicular carcinomas. As most thyroid cancer has a low mortality rate and a moderately high recurrence rate, lifelong monitoring is required (2,3). The 2 most important diagnostic tools for monitoring are serum thyroglobulin and whole-body radioiodine scans. They have been shown to be more accurate when performed after thyroid-stimulating hormone (TSH) stimulation. Endogenous TSH stimulation by thyroid hormone withdrawal causes symptoms of hypothyroidism and impairs a patient’s healthrelated quality of life (4). Recombinant human TSH (rhTSH) can produce similar TSH stimulation while the patient remains euthyroid on thyroid hormone replacement (5). The sensitivity for disease detection by radioiodine scanning and serum thyroglobulin measurements after rhTSH stimulation is comparable to that of the conventional thyroid hormone withdrawal method (6). Because symptoms of hypothyroidism are avoided, these patients do not experience a decrease in quality of life and maintain their ability to work, thus reducing economic loss for the payer and society (7). Moreover, patients treated with rhTSH are less likely to need sick leave than those whose thyroxine is withdrawn (8). Cost-effectiveness studies have shown that rhTSH-treated patients have a better quality of life, return to work earlier, and make less use of the health care system. These observations might stand true in the developed world, but in developing countries such as India, the per capita income is low (cost of rhTSH per patient in India,

Ranitidine versus placebo : a double-blind trial in the management of reflux esophagitis

1,200, annual per capita income in India,;

Evaluation of Basal Renal Function in Treatment-naïve Patients with Malignancy and Comparison with Age Matched Healthy Control.

924.91) and medical reimbursement is not freely available. Therefore, rhTSH administered by the standard method is beyond the reach of most patients. In our department, we have found that patients usually do not show symptoms of hypothyroidism until up to 2–3 wk. Therefore, we hypothesize that a combined protocol (withdrawal for 15 d and a single dose of rhTSH) may substantially reduce the cost and will be only slightly less if not equally effective. Reviewing the literature, we found a study by Pacini et al. that assessed whether rhTSH stimulation may be used in patients with differentiated thyroid carcinoma for postsurgical ablation of thyroid remnants using a 1,110-MBq (30-mCi) standard dose of 131I during thyroidhormone therapy (9).Theauthors compared3 treatment arms: in the first, patients were treated while hypothyroid; in the second, patients were treated while hypothyroid and were stimulated in addition with rhTSH (hypothyroid1 rhTSH); in the third, patients were treatedwhile euthyroid on thyroid hormone therapy andwere stimulated with rhTSH (euthyroid1 rhTSH). In the first 2 arms, patients were rendered hypothyroid by withdrawal of L-thyroxine therapy 45 d before ablation and of L-triiodothyronine 15 d before ablation. The rate of successful ablation was similar in the hypothyroid and hypothyroid 1 rhTSH arms (84% and 78.5%, respectively). A significantly lower rate of ablation (54%)was achieved in the euthyroid 1 rhTSH arm. The authors concluded that, using stimulation with rhTSH, a 1,110-MBq standard dose of radioiodine is not sufficient for a satisfactory thyroid ablation rate. Another important observation of this study was that the euthyroid1 rhTSH arm had low TSH, low 24-h radioiodine uptake, a low initial dose rate, and accelerated iodine clearance in comparison with the other 2 arms. The authors suggested that possible alternatives for obtaining a satisfactory rate of thyroid ablation with rhTSHmay consist of increasing the dose of radioiodine or using different protocols of rhTSH administration to produce more prolonged thyroid cell stimulation. However, the authors used hormone withdrawal and rhTSH (hypothyroid 1 rhTSH) in the second arm, and this choice may lead to symptomatic hypothyroidism and the additional cost of 2 rhTSH injections. Therefore, we put forward a shortened, 15-d, protocol (withdrawal for 15 d and a single dose of rhTSH) that may be a good alternative to other costlier or uncomfortable protocols. In this new protocol, the problems associated with the euthyroid 1 rhTSH method, namely low TSH level, low 24-h radioiodine uptake, and rapid clearance of 131I, may be reduced. Moreover, the patient will not have symptoms of hypothyroidism at 2 wk after stopping L-thyroxine. A single dose of rhTSH reduces the cost by half, in comparison to the standard rhTSH preparation method with 2 doses. A randomized controlled trial is needed to further clarify whether this hypothesis is true. If successful, the new protocol may reduce the cost of thyroid cancer management substantially.