Use of rapid cardiac magnetic resonance imaging to guide chelation therapy in patients with transfusion-dependent thalassaemia in India: UMIMI study.

AIMS: To explore the impact of incorporating a faster cardiac magnetic resonance (CMR) imaging protocol in a low-middle-income country (LMIC) and using the result to guide chelation in transfusion-dependent patients. METHODS AND RESULTS: A prospective UK-India collaborative cohort study was conducted in two cities in India. Two visits 13 months apart included clinical assessment and chelation therapy recommendations based on rapid CMR results. Participants were recruited by the local patient advocate charity, who organized the patient medical camps. The average scanning time was 11.3 ± 2.5 min at the baseline and 9.8 ± 2.4 min (P < 0.001) at follow-up. The baseline visit was attended by 103 patients (mean age 25 years) and 83% attended the second assessment. At baseline, 29% had a cardiac T2* < 20 ms, which represents significant iron loading, and 12% had left ventricular ejection fraction <60%, the accepted lower limit in this population. Only 3% were free of liver iron (T2* ≥ 17 ms). At 13 months, more patients were taking intensified dual chelation therapy (43% vs. 55%, P = 0.002). In those with cardiac siderosis (baseline T2* < 20 ms), there was an improvement in T2*-10.9 ± 5.9 to 13.5 ± 8.7 ms, P = 0.005-and fewer were classified as having clinically important cardiac iron loading (T2* < 20 ms, 24% vs. 16%, P < 0.001). This is the first illustration in an LMIC that incorporating CMR results into patient management plans can improve cardiac iron loading. CONCLUSION: For thalassaemia patients in an LMIC, a simplified CMR protocol linked to therapeutic recommendation via the patient camp model led to enhanced chelation therapy and a reduction in cardiac iron in 1 year.

Thoracoscopic excision of double-pulmonary sequestration in left haemithorax, without anomalous blood supply (supply from pulmonary artery) in a neonate: First case.

Pulmonary sequestration (PS) is a rare anomaly. PS is a mass of abnormal pulmonary tissue that does not communicate with the tracheobronchial tree and is supplied by an anomalous systemic artery. Although aberrant systemic arterial supply is considered the key element to diagnose PS, rarely it can have arterial supply from the pulmonary artery as a spectrum of sequestration. Here, we present an unusual case of double (upper and lower) extralobar sequestration, present unilaterally (left haemithorax) in a neonate, without anomalous blood supply (supply from the left pulmonary artery and drainage into the superior and inferior pulmonary veins), not reported in literature earlier, to the best of our knowledge. In the present case, a child presented with respiratory discomfort at birth, requiring surgery due to inability to wean off respiratory support. It is important to be aware of this variant of sequestration spectrum. In a 18 days old child, both pulmonary sequestrations were resected thoracoscopically, making it a rare case, not described earlier in literature.

Infantile spasms: Etiology, lead time and treatment response in a resource limited setting.

This study explores the etiology and lead time to treatment for infantile spasm (IS) patients and their effect on treatment responsiveness, in a limited resource setting. Patients with IS onset age ≤12 months', seen over 3 years were recruited retrospectively. Clinical information, neuroimaging and genetic results retrieved. Patients categorized into three primary etiological groups: Structural (including Structural Genetic), Genetic, and Unknown. The effect of etiology and lead time from IS onset to initiating appropriate treatment on spasm resolution, evaluated. Total 113 patients were eligible. Mean IS onset age was 6.86(±4.25) months (M: F 3.3:1). Patients were grouped into: Structural 85, Genetic 11 and Unknown 17. Etiology was ascertained in 94/113 (83.1%) with neonatal hypoglycemic brain injury (NHBI) being the most common (40/113, 36%). A genetic etiology identified in 17 (including 6 Structural Genetic, of which five had Tuberous Sclerosis). Structural group was less likely to be treatment resistant (p = 0.013, OR 0.30 [0.12-0.76]). Median treatment lead time - 60 days. Longer lead time to treatment was significantly associated with resistant spasms (χ2 for trend = 10.0, p = 0.0015). NHBI was the commonest underlying cause of IS. There was significant time lag to initiating appropriate treatment, affecting treatment responsiveness.