A retrospective review of ten patients (8 girls, 2 boys) admitted over a 9-month period with haemophagocytic lymphohistiocytosis (HLH) is presented. Presenting features included fever and hepatosplenomegaly (10), bleeding manifestations (7), lymphadenopathy (4), skin rash (4), shock (4), jaundice (3), CNS disorder (3), renal failure (2) and arthritis (2). Three infants had familial HLH (FHL) while the other seven patients had acquired (secondary) HLH. Two patients with FHL had very low perforin levels (0 and 0.05%). There was secondary HLH owing to systemic onset juvenile idiopathic arthritis in two patients, and one each had anaplastic large cell lymphoma, measles with pneumonia, disseminated tuberculosis, dengue hemorrhagic fever and lymphoproliferative disorder. Cytopenia affecting two or three lineages in peripheral blood was present in all while haemophagocytosis in bone marrow was documented in nine patients .Other important laboratory parameters were raised ferritin (9), raised LDH (9), hypertriglyceridaemia (7) and hypofibrinogenaemia (5). The patients were treated according to the HLH2004 protocol. Diagnosis of HLH should be considered early in patients presenting with unremitting fever, hepatosplenomegaly and cytopenias as without appropriate treatment HLH is usually fatal.

BackgroundThere is a dearth of data regarding the appropriateness of elective percutaneous coronary intervention (PCI) in a limited-resource country such as India. In an attempt to rationalise the use of PCI, Appropriate Use Criteria (AUC) were developed for cardiovascular care in the USA. In the Indian context, considering the high prevalence of coronary artery disease, the dramatic rise in the number of revascularization procedures and an increasing role of government/private reimbursements, application of AUC could potentially guide policy to optimize the utilization of resources and the benefit-risk ratio for individual patients.ObjectivesThe study sought to determine the overall and year-wise trends in the appropriateness of elective PCI using the AUC and also understand the impact of the government health insurance scheme (GHIS).Material and MethodsThe inpatient records of all patients undergoing elective PCI, at a single large tertiary care centre in Western India, from January 2009 to December 2014 were retrospectively analysed (n=972, 759 males, 213 females) by a neutral observer. The AUC scores and subsequent ranking were calculated using the dedicated web-based software and each PCIwas ranked as either ‘appropriate’, ‘uncertain’ or ‘inappropriate’. Elective PCI performed within a month after the index acute coronary syndrome (ACS) was considered as 'ACS' while applying the AUC. All other indications were considered as 'non-ACS'. Nearly 95% of elective PCI performed after July 2012 were covered under theGHIS and therefore the period January 2009–June 2012 was compared with the July 2012– December 2014 to assess the impact of this scheme.ResultsA total of 894 elective PCI (379 and 515 PCI in the ACS setting and non-ACS setting respectively) performed on 857 patients were analysed. The elective PCI performed in the pre-GHIS and GHIS period were 458 and 436 respectively. As per AUC, 352 (39.6 ± 4.4 %) of the overall elective PCI were ranked as ‘appropriate’, while 487 (55.3 ± 4.1 %) cases as ‘uncertain’ and 55 (5.1 ± 0.6 %) cases as ‘inappropriate’. An overall year-wise temporal trend in the proportion of cases in any of the AUC rankings did not show any significant trends(p > 0.05). However, 80.4 ± 7.3 % of elective PCI in the ACS setting were categorised as ‘appropriate’ and 82.6 ± 6.9 % of elective PCI in non-ACS setting were ranked as ‘uncertain’. With state-wide implementation of the GHIS, the total number of elective PCI increased by 50% (436 in the 3½ year pre-GHIS study period as against 458 in the 2½ year GHIS study period). The introduction of GHIS led to a marginal increase (p > 0.05) in the average annual number of elective PCI in non-ACS setting as opposed to a 120% rise in the number of elective PCI done in the ACS setting (p < 0.001) and the delay in performing PCI after coronary angiogram reduced from 55.8 ± 43.6 days to 33 ± 22.9 days (p < 0.01). Also, the ratio of men: women undergoing elective PCI rationalised from 5.4:1 to 2.7:1 (p < 0.001). With the introduction of the GHIS, the share ...

Background: Endocrine complications in βthalassaemia major patients in developing countries are likely to occur at younger ages due to suboptimal iron chelation. Objective:To assess the prevalence of endocrine abnormalities and correlate serum ferritin, degree of anaemia and liver dysfunction with endocrine dysfunction Method: A cross sectional study was carried out in B. J. Wadia Hospital, over a period of 2 years, on all children with β-thalassemia major over the age of 4 years receiving regular blood transfusions. Patients with transfusion dependent anaemia other than βthalassemia major were excluded. Results:The total number of children over 4 years of age with β-thalassaemia major receiving regular blood transfusions during the study period was 135. Mean haemoglobin was 7.8 ± 0.6g/dl and the mean serum ferritin level 5295 ± 2736ng/ml. The most common endocrine abnormality was delayed puberty (68%). Seventy one (52.5%) patients had short stature with the height Z-score 2.8±0.8. Hypocalcaemia was observed in 40 (38%) patients. Ten (9.4%) patients had hypoparathyroidism while in 7 (6.6%) it was suspected based on hypocalcaemia, high phosphorus and normal alkaline phosphatase. Rickets was seen in 25 (23.5%) patients. Hypothyroidism was present in 22 (22%) patients of whom 14 had compensated hypothyroidism. Insulin resistance, impaired fasting glucose/impaired glucose tolerance (IFG/IGT) and diabetes mellitus were seen in 7.6%, 4.4% and 2.6% patients respectively. Mean age of patients with delayed puberty was 15.8±1, Eighteen (37.5%) patients had spinal osteoporosis. Five patients had more than one endocrine abnormality.Conclusions: There were no statistically significant differences between the patients with and without endocrine abnormalities with respect to serum ferritin, mean pre-transfusion haemoglobin and liver dysfunction except for ferritin in patients with hypoparathyroidism and diabetes mellitus.(

The patient with NDM due to mutation L233F (not reported till date) in the KCNJ11 gene can be successfully treated with oral glibenclamide therapy.

Completely asymptomatic sinus of Valsalva aneurysms are rare entities, and there is no consensus regarding their management. We present the case of a patient who underwent atrial septal defect device closure at 5 years of age and was lost to follow-up, then presented 6 years later with unruptured sinus of Valsalva aneurysm and was closely followed. The aneurysm eventually ruptured and was successfully operated on with good outcomes.

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A 25-year-old pregnant patient in the 24th gestational week was referred for evaluation of resistant hypertension. There was significant obstetric history of one premature delivery with neonatal death and two instances of intrauterine fetal loss. The patient was asymptomatic except for occasional headaches. Hypertension, diagnosed during the first gestation 4 years ago, was poorly controlled in spite of the use of multiple antihypertensive agents.

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