Objective: The objective was to study whether the incidence of composite end points (mortality, cardiogenic shock and re-myocardial infarction [re-MI]) in pharmacoinvasive strategy was noninferior to primary percutaneous coronary intervention (PCI) in patients with ST-elevation myocardial infarction (STEMI). Methods: This was an observational study which included 138 patients. The study included patients admitted with a diagnosis of STEMI within 24 h of symptom onset, who underwent primary PCI or pharmacoinvasive therapy in a single center over a 9-month period. Primary end points (death within 30 days, re-MI within 30 days, and cardiogenic shock) and secondary end points (arrhythmias, bleeding manifestations, ischemic stroke, ejection fraction, mechanical complications, and duration of hospital stay) were compared between the two groups at 1 month after intervention. Results: At one month follow-up, the incidence rate for primary end points was 5 events per 43 patients (11.6%) in pharmacoinvasive arm and 18 events per 95 patients (18.9%) in primary PCI arm, a difference of - 7.3% (95% confidence interval: 18.5, 7.1). This finding shows that pharmacoinvasive strategy as compared with primary PCI in the management of STEMI was equivalent in terms of composite primary outcome. There was no significant difference between the secondary outcomes between the two groups. Use of thrombus aspiration device and in turn the thrombus burden was significantly lower in the pharmacoinvasive arm. Conclusion: This observational study showed that pharmacoinvasive strategy was as good as primary PCI in STEMI, in our setting, where primary PCI may be delayed or not possible at all due to financial and logistic constraints.

Background: Congenital cataract and microphthalmia are highly heterogeneous congenital eye disorders that affect normal vision. Although mutation in several genes has been shown to cause congenital cataract and microphthalmia, genetic studies associating single-nucleotide polymorphisms with these conditions is scarce. Hence, the present study aims to investigate the association of bone morphogenetic protein 4 (BMP4)-V152A (rs17563), and SIX homeobox 6 (SIX6)-H141N (rs33912345) polymorphisms with congenital cataract and microphthalmia in Western Indian cohorts. Materials and Methods: BMP4-V152A and SIX6-H141N were genotyped in 561 participants comprising of 242 congenital cataracts, 52 microphthalmia, and 267 controls using polymerase chain reaction (PCR) and allele specific oligonucleotide (ASO)-PCR method, respectively. Results: The frequency of BMP4- 152A was found to be significantly different between the cases and controls (Odds ratio (OR) 95% confidence interval [CI] = 1.4 [1.03–1.76], P = 0.0275). The frequency of BMP4- 152AA genotype was found to be significantly higher in congenital cataract cases as compared to controls (OR [95% CI] = 2.1 [1.14–3.67], P = 0.0154. The V-N haplotype of BMP4-V152A and SIX6-H141N was found to have a protective effect toward congenital cataract (OR [95% CI] = 0.72 [0.56–0.94], P = 0.0163) and microphthalmia (OR [95% CI] = 0.63 [0.40–1.01, P = 0.0541). Conclusions: The BMP4- 152AA genotype might play role in the causation of congenital cataract, whereas BMP4-SIX6 V-N haplotype might play a protective role toward the development of congenital cataract and microphthalmia.

Aim: Anxiety disorders usually remain undiagnosed in school students owing to the internalized nature of their symptoms. The present study was conducted with the primary objective of evaluating the prevalence of anxiety symptoms in school students in Mumbai. A secondary objective was to assess the impact of variables (age, gender, presence of sibling, and type of school curriculum or school) on anxiety symptoms. Materials and Methods: Study cases (8–15 year olds) were recruited by nonprobability sampling from four English-medium schools. Anxiety was measured using Spence Children's Anxiety Scale (SCAS)-child self-report questionnaire. T-scores (total and subscales) were calculated and cut-off scores of >60 were considered as significant. Results: Symptoms of overall anxiety were present in 10.8% (53/493) of the students. Older students (12–15 year olds) had greater odds of having overall anxiety symptoms (crude OR = 4.36, 95% CI 2.27 to 8.39, P < 0.0001). Symptoms of all anxiety disorders were present in the 493 participants, with obsessions/compulsions and fears of physical injury being the most common (in 29.6% and 27.2%, respectively). Older students and boys had greater odds of having obsessions/compulsions (crude OR = 2.32, 95% CI 1.56 to 3.44, P < 0.0001; and crude OR = 1.54, 95% CI 1.04 to 2.27, P= 0.035, respectively]. Students with sibling (s) had greater odds of having fears of physical injury (crude OR = 0.48, 95% CI 0.30 to 0.78, P= 0.003). Conclusions: There is an urgent need to screen school students in our city for anxiety disorders.

We aimed to review the contributions by Indian researchers to the subspecialty of skeletal dysplasias (SDs). Literature search using specific keywords in PubMed was performed to retrieve all the published literature on SDs as on July 6, 2017. All published literature on SDs wherein at least one author was from an Indian institute was included. Publications were grouped into different categories based on the major emphasis of the research paper. Five hundred and forty publications in English language were retrieved and categorized into five different groups. The publications were categorized as reports based on: (i) phenotypes (n = 437), (ii) mutations (n = 51), (iii) novel genes (n = 9), (iv) therapeutic interventions (n = 31), and (v) reviews (n = 12). Most of the publications were single-patient case reports describing the clinical and radiological features of the patients affected with SDs (n = 352). We enlisted all the significant Indian contributions. We have also highlighted the reports in which Indians have contributed to discovery of new genes and phenotypes. This review highlights the substantial Indian contributions to SD research, which is poised to reach even greater heights given the size and structure of our population, technological advances, and expanding national and international collaborations.

Indian childhood cirrhosis is an entity believed to be on the verge of extinction. We present the case of a 13-month-old girl presenting acutely with jaundice, fever, and persistently increasing bilirubin. Investigations revealed direct hyperbilirubinemia, elevated transaminases, anemia, a blood with few schistocytes, positive direct coombs test, and deranged prothrombin time. Viral, autoimmune, and metabolic workup was unremarkable. Ultrasonography showed chronic liver disease, portal hypertension, and ascites. Due to numerous confounding factors and a low index of suspicion, the diagnosis of Indian childhood cirrhosis remained elusive and was clinched only on liver biopsy, albeit more than three weeks later, shortly after which the child expired. The timing and technique of the liver biopsy may have profound impact on the ultimate clinical outcome. Close coordination between the clinical and pathological teams is essential for deciphering acute presentations where the etiology is uncertain. We highlight the clinical considerations, varied morphological pointers, and offer a diagnostic algorithm facilitating the consideration of this disease.

Cytogenetic anomalies involving the 3q26 chromosomal region are rare in acute myeloid leukemia (AML). There is no such description of these anomalies from the Indian sub-continent. A total of 174 AML patients were admitted to our hospital for therapy between January 2001 and January 2008. Cytogenetic studies could be done in 115 patients; which revealed three cases with 3q26 anomalies. All were males. In the first two cases, the anomaly was detected in all the metaphases. The common features seen were the presence of only mild thrombocytopenia (relatively high platelet counts when assessed against the background of AML with high blast percentages), monosomy 7, myeloperoxidase positive blasts, mild eosinophilia, and poor therapeutic response. In the third case, the chromosome 3 anomaly was present in only one metaphase. Such an anomaly has not been reported. Only the third patient responded to induction therapy but subsequently relapsed after being in complete remission for 15 months. 3q26 anomalies are associated with monosomy 7, relatively higher platelet counts at diagnosis as compared with other non-3q rearranged AML's and poor prognosis. The precise mechanisms underlying leukemogenesis need to be elucidated and better treatments devised since these patients respond poorly to therapy.

We report a rare case of a 25-year-old lady who presented with right hypochondriac pain associated with weakness for 3 months. Her hormonal evaluation was normal. Computed tomography scan revealed an adrenal mass for which a right open transperitoneal adrenalectomy was performed, and the lesion was diagnosed as mature teratoma on histopathological examination. Teratoma is an unusual neoplasm which arises from one or all the three germ layers. Extragonadal teratomas are rare in adults as compared to children and are mostly retroperitoneal in location, constituting only 4% of all primary teratomas. Primary adrenal teratomas are even rarer and to the best of our knowledge, only eight cases have been reported in adults in the past 10 years. Adrenal teratoma can pose a diagnostic challenge because radiologically it mimics myelolipoma, angiomyolipoma, liposarcoma, or pheochromocytoma. Mature teratomas are usually benign but may possess malignant potential, the chances of which are greater in adults as compared to children, making it an important entity requiring a proper diagnosis and management.

Primary tracheal tumors are rare and trachea is an exceedingly rare site of extramedullary plasmacytoma (EMP). We report a case of solitary tracheal plasmacytoma causing symptoms of airway obstruction in a 59-year-old man. Flow/volume loop indicated the fixed central airway obstruction. Computerized tomography and bronchoscopy demonstrated a sessile tumor on posterior tracheal wall obstructing 80% of the lumen. Partial tracheal resection with T-T anastomosis was performed. Pathologic analysis of resected mass revealed EMP. Additional investigations excluded multiple myeloma. There are no signs of disease recurrence after 7-year follow-up.

IgG4-related disease (IgG4-RD) is a multisystemic mass forming immune-mediated disease entity, commonly creating confusion and diagnostic challenges. We present a case of a 25-year-old female who presented with bilateral orbital masses, lymphadenopathy, paraspinal and renal masses, which clinicoradiologically simulated lymphoma. The lymph node biopsy revealed interfollicular sheets of plasma cells creating confusion with Castleman's disease and marginal zone lymphoma. The orbital biopsy revealed ductular destruction, periductular plasma cells, and fibrosis, mimicking Sjogren's syndrome and Castleman's disease. However, the correlation of the clinical features with histopathological findings, IgG4 immunopositivity, and serum studies helped in clinching the diagnosis. This case presents an uncommon combination of clinical features infrequently reported in literature. Furthermore, and more importantly, it highlights the need to keep a differential of IgG4-RD in mind, to aid early and correct treatment of the disease.

Self-harm by consuming yellow oleander seeds has become more frequent in South Asian countries, especially Sri Lanka and in southern parts of India. Yellow oleander poisoning usually presents with gastrointestinal, cardiovascular, and neurological manifestations as well as electrolyte abnormalities. Cardiac effects can manifest as nearly any type of dysrhythmia and sudden death with very few premonitory signs. To our knowledge yellow oleander poisoning related acute myocardial infarction has not yet been reported. We report a 37-year-old man with yellow oleander poisoning who had normal sinus rhythm at presentation but within few hours developed acute ST-segment myocardial infarction.