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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.

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 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.

Background: Survival in transfusion dependent thalassemia is closely linked to iron overload with severe cardiac iron causing heart failure. MRI guided chelation improves survival in high income countries. We explored the use of rapid MRI to guide therapy in a Lower Middle Income Country (LMIC), India, via locally organized thalassemia patient medical camps. Methods: Rapid cardiac MRI (rCMR) was implemented at two sites with clinical assessment and therapy recommendations based on rCMR findings. Investigations and clinical reassessment were repeated at 13 months. Findings: The baseline visit was attended by 103 patients, the second by 86. Average time of scanning was 10 minutes. At baseline 29% had a cardiac T2* = 17ms). At 13 months more patients were taking 2 oral chelators (21% to 37%, p

Background Cardiovascular mortality is higher in developing countries. Part of that is suboptimal testing. Cardiac magnetic resonance (CMR) is the gold standard for measuring structure, function of the heart and adds incremental value by imaging scarring and to assess iron level. Despite the existence of MRI units, CMR is identified as a complex test, with poor training and availability in developing countries. Purpose To assess the potential impact of a faster CMR protocol at a multicentre level in developing countries; implementing it with an education program, for the assessment cardiomyopathies. Methods An international partnership. A rapid CMR protocol for the evaluation of cardiac volumes, function and tissue characterization (Cardiac Iron T2* and LGE for scar) Figure 1a. We deployed the protocol as a multicentre study: Argentina, Peru, India and South Africa accompanied by a program of education. Pre-scan clinical information, scanning data: complications, image quality and post-scan follow-up of participants for the assessment on impact, between 3 to 24 months. Results 510 scans (4 countries, 6 cities, 12 centres) were performed with the rapid CMR protocol. Contrast studies in 378 (74%). There were no scan-related complications. Quality of the studies was maintained in a high level as an average of 89%. 97% of studies responded referral's question. All patients with contrast CMR scan have had at least one 2D echocardiogram before CMR. Average scan duration was 21±6 mins for contrast studies and 12±3 for non-contrast T2* protocol. The most common underlying diagnoses were non-ischaemic cardiomyopathy in 73% of participants (including cardiac iron level assessment in 26%, HCM in 17%, DCM in 15%), 27% for ischaemic cardiomyopathy and 15% for other pathologies. 4 of the 12 participant centres started to incorporate CMR for the first time. Findings impacted management in 60% of patients, including new diagnosis in 21% of participants. See table 1, figure 1b. For just cardiac iron assessment: 1/3 of participants had iron deposited in the heart with 14% of patients in severe levels. Conclusions CMR can be delivered faster and easier. When this abbreviated protocol is enabled with education, it can be implemented in developing countries with existing technology. This protocol shows high quality exam, with an important impact on patient's management. Characteristics and impact on management Contrast studies Non-contrast studies All patients (%) 378 (74) 132 (36) Age, mean (range) years 54 (16–93) 24 (13–41) Male (%) 151 (39) 64 (48) Pre-echocardiography exam (%) 370 (98) 42 (32) Scanning duration mean (SD) 21 (6) 12 (3) Good quality exam (%) 329 (87) 120 (91) Impact on management Total All patients (%) 510 (100) Completely new diagnosis (%) 105 (21) Change/Addition of Medication (%) 128 (25) Intervention/ Surgery (%) 31 (6) Invasive angiography/biopsy (%) 25 (5) Hospital discharge/admission (%) 15 (3) TOTAL 306 (60%) SD: Standard Deviation. Acknowledgement/Funding Global Engagement UCL, UK Foreign & Commonwealth Office and The Peruvian Scientific, Technological Development and Technological Innovation (FONDECYT)

Omphalocele is a congenital defect in the abdominal wall, usually treated at birth or within 1-2 years of life depending on condition of patient and size and contents of the defect. We repaired a giant omphalocele without mesh in a 9-year-old girl. She developed duodenal obstruction in the postoperative period requiring another laparotomy and duodeno-jejunostomy to bypass obstruction.

Lysinuric protein intolerance is an inherited disorder of transport of cationic amino acids, causing amino aciduria. A 3-year-old boy with 12 month history of episodic change in behavior (decreased sleep, poor interaction), stunted growth and hyperammonemia. Genetic analysis revealed a homozygous mutation, c.158C>T (p.Ser53Leu) in exon 1 of SLC7A7 gene. With appropriate management of hyperammonemia episodes, his neurodevelopmental outcome is normal. Lysinusic protein intolerance is a potentially treatable disorder and should not to be missed.

Background: Nasal continuous positive airway pressure (NCPAP) is a well-recognized mode of noninvasive respiratory support (NIV) for newborns with respiratory distress. Evidence for the heated humidified high-flow nasal cannula (HHHFNC) as an alternative mode of respiratory support is scarce. The aim of this work was to evaluate whether HHHFNC is equally efficacious to NCPAP as providing primary respiratory support in the first 6 h of life for preterm neonates with respiratory distress. Methods: Preterm infants (gestation 26–34 weeks) with respiratory distress were randomized to either HHHFNC or NCPAP. The primary outcomes of the study were inferred in terms of total duration of NIV support (in hours) and total duration of oxygen supplementation (NIV + oxyhood/oxygen by nasal prongs) required. The secondary outcomes measured and compared between the two study groups were total time taken to reach full feeds; incidence and severity of nasal trauma; incidence of air leaks, bronchopulmonary dysplasia, patent ductus arteriosus, and retinopathy of prematurity. Results: The mean duration of NIV support in NCPAP and HHHFNC group was 69.1 ± 37.75 and 67.57 ± 45.48 h, respectively (P = 0.867). The mean durations of total oxygen supplementation in NCPAP and HHHFNC groups were 96.88 ± 100 and 83.73 ± 107 h, respectively (P = 0.062). The failure rate was similar in both the study groups (P = 1.000). Conclusions: We conclude from the present study that HHHFNC is equally efficacious to NCPAP as a primary mode of respiratory support for respiratory distress in preterm infants.

Osteopetrosis is a group of rare genetic diseases, consequent on absent or defective osteoclasts. A large number of genes have been found to be associated with the defect, each of which results in a clinically variable phenotype with regards to age at presentation and severity of disease. This makes the disease a clinical diagnostic challenge. We present one such case which was diagnosed on trephine biopsy performed to understand the cause of the presence of blast cells in peripheral blood of an 8-month-old infant.