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Myxomas are the most common type of primary cardiac tumor. They cause a variety of clinical manifestations depending on size and anatomical location. Sometimes, manifestations are atypical challenging differential diagnosis and the therapeutic approach. Left atrial myxomas are commonly missed clinically and often lead to grave consequences. We present here a series of 6 cases of left atrial myxomas with demographic and clinical characterization of the patients that were managed successfully.

Tombstone ST-elevation myocardial infarction (STEMI) is a rare variant of STEMI leading to worse clinical outcomes. We report a case of tombstone STEMI in a 65-year-old male, who presented with acute chest patient. The clinical, electrocardiographic and angiographic characteristic of the patient is discussed.

Background: Pericardial tamponade, a life-threatening condition caused by the accumulation of fluid in the pericardial sac, can be acute or chronic. Mortality and morbidity can be minimized on prompt diagnosis and treatment with percutaneous drainage. Materials and methods: 246 patients admitted with cardiac tamponade between Jan 2010 and Aug 2014 was enrolled in the study. After clinical examination and echocardiographic assessment, all the patients were subjected to emergency pericardiocentesis (both diagnostic and therapeutic). Three samples of the aspirate were sent for biochemical, serological, and cytological analysis. The data collected was then analyzed.

Objective: Abnormal right ventricular function plays an important role in development of clinical symptoms and overall prognosis of patients with mitral stenosis. Hemodynamic and radionuclide studies have demonstrated long-term improvement in RV function after PTMC. However, exact quantification by conventional echocardiographic technique is difficult owing to complex 2D anatomy. This study evaluates the immediate and short term follow up impact of successful percutaneous transvenous mitral valve commissurotomy (PTMC) on RV function in patients with mitral stenosis using 2D Echo and Doppler tissue imaging. Methods: 219 patients (mean age 26 + 6yrs) with rheumatic MS, all in sinus rhythm were studied before and 24-48 hrs after PTMC. Parameters of global and longitudinal RV function were assessed by conventional 2D ECHO and Doppler tissue imaging. Results: Immediately following PTMC, mitral valve area increased from baseline of 0.71 ± 0.15 cm 2 to 1.84 ± 0.17 cm 2 (P 0.0001), RV outflow tract fractional shortening (RVOT–FS) increased from 33.94 ± 7.55% to 37.33 ± 7.67% ( Conclusion: Long term evaluation of RV function and benefits using invasive and radionuclide methods post PTMC has shown incongruous results in improvement of right ventricular (RV) function immediately after PTMC. In this study, immediately after successful PTMC significant improvement in parameters of infundibular and global RV function as assessed by RVOT fractional shortening , Tei index and tissue Doppler velocities was observed. Key words: PTMC, RV function, ECHO indices-2D and DTI, procedural outcome-immediate and short term.

Highlights • Ascending aortic aneurysm is the second most common aortic aneurysm to abdominal aortic aneursyms. • Indications for surgical treatment of ascending aortic aneurysms are based on size or growth rate and symptoms. • Aortic aneurysms are less common that many other cardiovascular conditions., Introduction Ascending aortic aneurysm is the second most common aortic aneurysm to abdominal aortic aneurysm. Most ascending aortic aneurysm is diagnosed in sixth or seventh decade of life. Majority of patients of ascending aortic aneurysm do not have any clinical manifestations. Case presentation 45 year old female patient presented with Dyspnoea on exertion (NYHA class II–III), palpitation and vague chest pain since 2 years. Patient had worsening of symptoms NYHA IV dyspnoea since last 1 month and the patient managed with medications since the patient was not willing for surgery. Patient is on regular follow up on medications since last 2 years. Discussion Aneurysms are usually dilation of an arterial segment. It involves extensive area of the aorta and is a challenging surgical procedure especially when it involves aortic root. Computed Tomography (CT), and especially multi-detector CT (MDCT), is the most popular radiological modality for evaluating aortic aneurysms. Conclusion Aortic aneurysms are localized dilation of the wall of aorta. They can rupture or dissect involving the pericardium, aortic valve. Open surgical repair remains the standard approach to treating most large aortic aneurysm and results are believed to be more predictable and satisfactory.

Context: The optimal treatment strategy for in-stent restenosis (ISR) still remains under debate. Moreover, there have been scarce data on Indian patients relating to ISR treatment. Aim: The aim of this study was to determine the clinical profile and angiographic pattern of patients with ISR and to evaluate the outcome of these patients being treated for ISR. Settings and Design: This was a cross-sectional study which consisted of patients who had coronary angiographic characteristic of ISR. Materials and Methods: Patients were divided into subgroups as per presentation, acute coronary syndrome (ACS), and non-ACS. After the ISR event and treatment, the patients were followed up for a minimum period of 6 months for any adverse events. The primary outcome of the study was occurrence of a major adverse cardiac event. Statistical Analysis: Chi-square test, Fisher's exact test, Student's t-test, or Mann–Whitney test was applied according to type and distribution of variable (SPSS software). Results: One hundred patients with 109 culprit lesions of ISR were included in the study. The ACS was dominant clinical presentation mode, occurring in 62 patients. Fifty-four percent of the patients were treated with percutaneous coronary intervention, 26% were managed with coronary artery bypass grafting, and 19% were treated with optimized medical therapy. Majority of the adverse events (12 out of 15 patients) occurred in the ACS group, with a statistically significant difference at 6-month follow-up (P = 0.021). Conclusion: Patients with ISR have ACS as the most common mode of presentation. Patients with ISR presenting with ACS are at high risk and must be closely monitored. The treatment of ISR with drug-eluting stent or drug-coated balloon is most effective.

Hoarseness of voice is a common symptom of many laryngeal and extralaryngeal conditions. It is very crucial to identify the culprit behind it, keeping in mind all the various differentials. We re-port a case of a 35-year-old woman presenting with complaint of hoarseness of voice. Upon car-diac evaluation, the patient was diagnosed with bicuspid aortic valve, with severe aortic stenosis and dilation of ascending aorta. We suspected that the plausible reason for hoarseness of voice was compression of recurrent laryngeal nerve due to dilation of aorta, i.e., Ortner’s syndrome. But to our surprise, CT of aorta and neck revealed extensive elongated cervical vagus nerve schwannoma. Such type of association is unique and new to voluminous medical literature.

BACKGROUND: The aim of this study was to establish characteristics of lung cancer patients diagnosed at a tertiary care hospital in Bangalore. METHODS: The retrospective study was undertaken comprising of 202 patients diagnosed of advanced lung cancer in a tertiary care setting. Data was analyzed to identify patients' characteristics, smoking history, tumor histology, stage of the disease, treatment received, and survival rates. RESULTS: Among the 202 patients diagnosed, 134 were males, and 68 were females. Tumor histology testing revealed that 168 patients had adenocarcinoma, 24 patients had squamous carcinoma, 5 patients had small cell carcinoma, and 5 patients were poorly differentiated carcinoma. Among the patients of adenocarcinoma, complete response, partial response (PR), stable disease, and progressive disease (PD) were seen in 0.6%, 52%, 17%, and 23.2% of the patients respectively. The median progression-free survival (PFS) for first-line treatment was 6.5 months; the highest PFS was seen with nab-paclitaxel/platinum combination. The mean overall survival was 11.7 months and the highest OS of 12.3 months with gefitinib therapy. In the squamous subset of patients, PR was observed in fourteen patients, of which five patients were treated with nab-paclitaxel/platinum. The mean overall survival of 10.5 months and mean PFS was 6.2 months with the highest PFS of 6.8 months were seen with weekly nab-paclitaxel. Among the small cell lung cancer patients, nine were treated with etoposide/platinum regimen with a compliance of 6 cycles. Three patients had a PR, and one had a PD on etoposide/platinum regimen. The mean overall survival in these patients was 4.6 months.

ESCAPE is a prospective, multicenter, randomized clinical trial that will enroll subjects with the following main inclusion criteria: less than 12 h from symptom onset, age > 18, baseline NIHSS >5, ASPECTS score of >5 and CTA evidence of carotid T/L or M1 segment MCA occlusion, and at least moderate collaterals by CTA. The trial will determine if endovascular treatment will result in higher rates of favorable outcome compared with standard medical therapy alone. Patient populations that are eligible include those receiving IV tPA, tPA ineligible and unwitnessed onset or wake up strokes with 12 h of last seen normal. The primary end-point, based on intention-to-treat criteria is the distribution of modified Rankin Scale scores at 90 days assessed using a proportional odds model. The projected maximum sample size is 500 subjects. Randomization is stratified under a minimization process using age, gender, baseline NIHSS, baseline ASPECTS (8–10 vs. 6–7), IV tPA treatment and occlusion location (ICA vs. MCA) as covariates. The study will have one formal interim analysis after 300 subjects have been accrued. Secondary end-points at 90 days include the following: mRS 0–1; mRS 0–2; Barthel 95–100, EuroQOL and a cognitive battery. Safety outcomes are symptomatic ICH, major bleeding, contrast nephropathy, total radiation dose, malignant MCA infarction, hemicraniectomy and mortality at 90 days.

Myocardial infarction is associated with mechanical and non-mechanical complications. Here we are reporting a case presenting with evolved posterolateral wall myocardial infarction with free wall rupture and pericardial effusion with layered clot and its spontaneous resolution without any intervention.

Background and Purpose— Within different brain regions, we determine the comparative value of multiphase computed tomographic angiography (mCTA) and computed tomographic perfusion (CTP) in predicting follow-up infarction. Methods— Patients with M1-middle cerebral artery occlusions were prospectively included in this multicenter study. Regional analysis was performed for each patient within Alberta Stroke Program Early CT Score regions M2 to M6. Regional pial vessel filling was assessed on mCTA in 3 ways: (1) Washout of contrast within pial vessels; (2) Extent of maximal pial vessel enhancement compared with contralateral hemisphere; (3) Delay in maximal pial vessel enhancement compared with contralateral hemisphere. Cerebral blood flow, cerebral blood volume, and Tmax data were extracted within these Alberta Stroke Program Early CT Score regions. Twenty-four- to 36-hour magnetic resonance imaging/CT was assessed for infarct in each Alberta Stroke Program Early CT Score region (defined as >20% infarction within that region). Mixed effects logistic regression models were used to compare mCTA and CTP parameters when predicting brain infarction. Area under the receiver operating characteristics was used to assess discriminative value of statistical models. Results— Seventy-seven patients were included. mCTA parameter washout and CTP parameter Tmax were significantly associated with follow-up infarction in all models ( P P >0.05). Mean Tmax and cerebral blood volume values were significantly different between each washout score ( P P P Conclusions— Similar to CTP, multiphase CTA can be used to predict tissue fate regionally in acute ischemic stroke patients.

Single coronary artery is a rare congenital coronary artery anomaly, the incidence of which is 0.024-0.066% as described in literature. Report of cases having single coronary artery along with acute myocardial infarction are scanty and reports of percutaneous intervention in such a situation are even fewer, technically challenging and potentially cataclysmic. As single coronary artery supplies the entire myocardium, occlusion of this can result in significant ischemic insult, resulting in severe biventricular dysfunction. Percutaneous Coronary Intervention (PCI) of single coronary artery is technically challenging and carries high risk which may be equated to left main intervention. We report a rare interesting case of L1 variety of single coronary artery which presented as acute inferoposterior myocardial infarction with successful rescue PCI to Left Circumflex Artery (LCx).

Objective Aim of the study was to evaluate clinical, angiographic profile and percutaneous endovascular management of Takayasu's arteritis. Background Takayasu's arteritis is a chronic inflammatory vasculitis affecting the aorta and its major branches. Although it is more prevalent in Asia, the distribution of the disease is worldwide with different vascular involvement patterns and clinical manifestations. Methods In this prospective study a total of 50 consecutive patients who were reported as having Takayasu's arteritis between January 2010 and April 2016 were evaluated. Detailed clinical presentation and angiograms of all patients were analysed. Results 50 patients were analysed during study period. Among 50 patients, 43(86%) were female and 7 (14%) were male. Average age of presentation was 26.92 years. Most common clinical presentation was claudication (74%) followed by, musculoskeletal symptoms (48%), fatigue (46%), weight loss (22%), headache (22%), visual disturbances (16%), syncope (10%), dyspnoea (20%). Most common features were absent/diminished pulses (80%), difference in blood pressure (80%), followed by bruit (70%)hypertension (64%), cerebrovascular accident (8%),heart failure (8%) and aortic regurgitation (4%). According to the new angiographic classification, angiographic type I (40%) was encountered most frequently, followed by type III (30%), type V (16%), type IIb (8%), type IIa (2%), and type IV is (4%). Angioplasty was the main stay of treatment in 66% of the patients, remaining 34% of them were treated medically either with corticosteroids or methotrexate. Conclusion Takayasu's arteritis is a rare disease, affects mainly women, manifestations range from asymptomatic disease, found as a result of impalpable pulses or bruits, to catastrophic neurological impairment. Takayasu's arteritis is the common cause of renovascular hypertension. Angiography remains the gold standard for diagnosis. Angiographic evaluation and percutaneous transluminal angioplasty with stenting is useful in selected cases.

Background: One of the genetic alterations implicated in tumor progression in colorectal cancers (CRCs) are abnormalities in Kristen Rat Sarcoma (KRAS) gene. Evaluation of KRAS mutation status is an important prognostic factor and has predictive value in deciding first line therapy based on monoclonal antibodies such as Cetuximab and Panitumumab in metastatic CRCs. Materials And Methods: In this retrospective study, we analyzed 7 different somatic mutations in Exon 2 of KRAS gene in 299 unselected incidental CRC patients who visited the hospital for clinical management during the period 2009–2013. Most of the tumors were primarily originating from colon and rectum; nevertheless, there were a few from rectosigmoid, sigmoid, ceacum and anal canal in the study group. Genomic DNA extracted from paraffin embedded tumor tissues was screened for 7 point mutations located in Codons 12 and 13 of KRAS gene, using Scorpions amplified refractory mutation system real time polymerase chain reaction technology. Statistical analysis was performed to assess bivariate relationship between different variables that includes: mutation status, mutation type, tumor location, tumor morphology, age and sex. Results: Prevalence of mutation in Codons 12 and 13 was 42.8% in the study group. Well-differentiated tumors had significantly more mutation positivity than moderately and poorly differentiated tumors ( P = 0.001). 92% of the mutations were from Codon 12 and 8% in Codon 13. Glycine to Arginine was relatively more common in rectosigmoid followed by ceacum, while Glycine to Alanine mutation was relatively more prevalent in sigmoid, followed by rectum and rectosigmoid. CONCLUSION: The results suggest a prevalence of KRAS mutation at 42.8% in Indian population indicating that this testing is very crucial for targeted therapy management in metastatic CRC in India. Further analysis on mutation status of other homologues such as NRAS and downstream partner, v-raf murine sarcoma viral oncogene homolog B1, would add value to understanding the role of anti-epidermal growth factor receptor therapy in CRC management.

Pneumocystis jiroveci pneumonia is a very well documented opportunistic infection in retro-positive individuals. Studies have shown that venous and arterial thrombosis occurs with increased frequency in patients infected with HIV. The reported frequency of venous thromboembolism varies between 0.19% to 7.63%/ year and that of pulmonary thromboembolism around 0.26%. But here, we report a case in which a newly detected retro-positive patient had both pneumocystis jiroveci pneumonia and pulmonary thromboembolism leading to a diagnostic delay of PCP pneumonia.

In this era of intervention more and more percutaneous procedures are being done successfully. Meanwhile the expertise in dealing with complications in catheterization laboratory is increasing. We present a case of coronary perforation while undergoing angioplasty with development of tamponade which ultimately was sealed by covered stent. Patient is doing well on follow up.

Intravenous tissue plasminogen activator has limited efficacy in fibrinolysis of large proximal intracranial thrombi. Thus, recent endovascular acute stroke trials restricted their selection criteria to patients with proximal occlusions in the anterior circulation. Although the terminal internal carotid artery occlusion is relatively easy to identify, there is often a debate as to what constitutes a proximal (involving the M1 segment) versus a distal (involving the M2 segment and beyond) middle cerebral artery occlusion. In light of overwhelming evidence demonstrating superiority of endovascular treatment in patients with proximal occlusion, this distinction has significant practical implications in patient selection. Here we present a brief review of the proximal (M1) segment of the middle cerebral artery anatomy and provide practical methods to recognize and separate the M1 and M2 segments. In keeping with the belief that CT angiography (CTA) (preferably multiphase CTA) is the ideal screening test for patients with emergent large vessel occlusion, we have provided tips for expeditious and accurate vascular imaging interpretation.

Breakage of angioplasty device in coronary artery can cause panic in the catheterization laboratory. These broken fragments may serve as a nidus for thrombus formation; hence, removal of these fragments becomes mandatory. Since the incidence of guidewire fracture during angioplasty are rarely reported, evidence-based approaches are not available for the management of such incidental conditions. Here, we report an interesting case of entrapment and unravelling of guidewire. We successfully retrieved unravelled guidewire using a noncompliant balloon inflated in the guiding catheter. Subsequently, the procedure was completed successfully with an implantation of a stent in the culprit lesion. We are of opinion that this novel technique is quite easy and less cumbersome than other described techniques reported earlier.

Background and Purpose— Minor stroke and transient ischemic attack with an intracranial occlusion are associated with neurological deterioration and disability. Tenecteplase (TNK–tissue-type plasminogen activator) compared with alteplase is easier to administer, has a longer half-life, higher fibrin specificity, possibly a lower rate of intracranial hemorrhage, and may be an ideal thrombolytic agent in this population. Methods— TNK–Tissue-Type Plasminogen Activator Evaluation for Minor Ischemic Stroke With Proven Occlusion (TEMPO-1) was a multicenter, prospective, uncontrolled, TNK–tissue-type plasminogen activator dose-escalation, safety, and feasibility trial. Patients with a National Institutes of Health Stroke Scale ≤5 within 12 hours of symptom onset, intracranial arterial occlusion on computed tomographic angiography and absence of well-evolved infarction were eligible. Fifty patients were enrolled; 25 patients at a dose of 0.1 mg/kg, and 25 patients at 0.25 mg/kg. Primary outcome was the rate of drug-related serious adverse events. Secondary outcomes included recanalization and 90-day neurological outcome (modified Rankin Scale, 0–1). Results— Median baseline National Institutes of Health Stroke Scale was 2.5 (interquartile range, 1), and median age was 71 (interquartile range, 22) years. There were no drug-related serious adverse events in tier 1. In tier 2, there was 1 symptomatic intracranial hemorrhage (4%; 95% confidence interval, 0.01–20.0). Stroke progression occurred in 6% of cases. Overall, 66% had excellent functional outcome (modified Rankin Scale, 0–1) at 90 days. Recanalization rates were high; 0.1 mg/kg (39% complete and 17% partial), 0.25 mg/kg (52% complete and 9% partial). Complete recanalization was significantly related to excellent functional outcome (modified Rankin Scale, 0–1) at 90 days (relative risk, 1.65; 95% confidence interval, 1.09–2.5; P =0.026). Conclusions— Administration of TNK–tissue-type plasminogen activator in minor stroke with intracranial occlusion is both feasible and safe. A larger randomized controlled trial is needed to prove that this treatment is efficacious. Clinical Trial Registration— URL: http://www.clinicaltrials.gov . Unique identifier: NCT01654445.

We report a case of acute left main coronary artery occlusion treated with stenting of the left main coronary artery. The patient had a thrombotic distal left main stenosis and after diagnostic coronary angiography developed a total occlusion of the left main artery. Stenting of the unprotected left main coronary artery was successfully performed as a salvage procedure and patient completely recovered without any persistent myocardial damage.

Shone’s complex is a Congenital Heart Disease (CHD), consisting of multiple levels of left sided obstructive lesions including supravalvular mitral membrane (SVMM), parachute mitral valve, subaortic stenosis and coarctation of aorta. Cortriatriatum sinister is a rare congenital defect in which a membrane divides LA into two distinct chambers. These two congenital malformations are rare and their occurrence together is still rarer. We report a 1 year 3 month old male baby with h/o failure to thrive, recurrent Respiratory Tract Infection & developmental delay. Presented with rarer combination of shone’s complex and cortriatriatum sinister. Key words: Shone’s complex, Cortriatriatum sinister, Congenital Heart Disease, 2DEchocardiography, Cortriatriatum dexter

Complex iliac artery obstructions, particularly bilateral stenosis or total iliac artery occlusions, are usually treated with aortofemoral or aortobifemoral graft surgery. However, surgical treatment is associated with 3% mortality rate and significant morbidity such as intestinal ischemia, spinal cord injury, and ureteral damage. Percutaneous interventions of aortic bifurcation offer a promising alternative to surgery with potentially lower morbidity and mortality risk. We report a case of peripheral artery disease who had underwent right transfemoral iliac angioplasty with femoropopliteal bypass presented again with bilateral lower limb ischemia, who was successfully treated with stent implantation with the kissing balloon technique.

Ellis-van Creveld syndrome also known as chondroectodermal dysplasia is a rare genetic disorder of the skeletal dysplasia type, first described by Richard WS Ellis and Simon van Creveld in 1940. The syndrome manifests with several skeletal anomalies, oral mucosal and dental anomalies, congenital cardiac defects, nail dysplasia and polydactyly of one or both limbs. It is caused by mutation of EVC1 and EVC2 genes located in a head-to-head configuration on chromosome 4p16, which has been identified as the causative. The EVC phenotype is variable and affects multiple organs. The presence of oral mucosal and dental alterations, like the presence of numerous frenulum, oligodontia, bellshaped anterior teeth, hypoplastic erupted teeth with high-caries index, will confirm the diagnosis of Ellis-van Creveld syndrome and hence its importance to dentists.

Idiopathic dilatation of the right atrium (IDRA), also known as the giant right atrial aneurysm (RAA), is a rare anomaly, usually asymptomatic and of unknown etiology. It can be associated with atrial arrhythmias, severe tricuspid regurgitation (TR), congestive heart failure, thrombus formation leading to pulmonary embolism, paradoxical embolism, and stroke. IDRA can be misdiagnosed as Ebstein’s anomaly or Uhl’s anomaly due to the hugely dilated right atrium (RA) in both the anomalies. The imaging modalities such as two-dimensional transthoracic echocardiography (2DTTE), threedimensional (3DTTE), computed tomography (CT), and cardiac magnetic resonance imaging (MRI) can be very useful in differentiating the various causes for dilated RA and thereby aiding in the management of this congenital abnormality.

A 78-year-old man admitted with complaints of breathlessness of 1 year and typical chest pain of 2 months duration. He had a blunt chest trauma 7 years back. Transthoracic echocardiography revealed severe tricuspid regurgitation due to a flail anterior leaflet of the tricuspid valve. It also revealed global left ventricular dysfunction. Flail tricuspid valve causing severe regurgitation is usually due to mechanical trauma. Since it is well tolerated for years, the diagnosis may be delayed or missed entirely. Echocardiography has allowed easier diagnosis of this condition resulting in earlier and, hence, more effective treatment.

DESCRIPTION A 45-year-old female patient, was admitted with recurrent syncope of 1 month duration. An emergency temporary transvenous right ventricular pacing electrode was placed for complete heart block. The patient developed chest pain and giddiness the following day and electrocardiogram revealed failure to capture and undersensing, with right bundle branch block morphology ( fi gure 1 ). The possibility of lead dislodgement was considered. Fluoroscopy in antero-posterior projection revealed the pacing electrode positioned well beyond the cardiac silhouette ( fi gure 2 ), suggestive of right ventricular perforation. There was no evidence of pericardial effusion or tamponade by echocardiography. Another temporary transvenous pacing electrode was fi rst placed in the right ventricle and later the perforated lead was slowly withdrawn without complications. The patient was haemodynamically stable and was monitored by serial echocardiography. Chest x-ray was normal. Three days later, she underwent permanent pacemaker implantation successfully. Catheter induced perforation of cardiac chambers is a well-known entity. 1 2 The most dramatic outcome of lead perforation is cardiac tamponade. Other fi ndings include diaphragmatic contraction, right bundle branch block pacing pattern or increasing stimulation threshold. In individuals without myocardial damage, removal and repositioning of the electrode, followed by serial echocardiography is required. 3 In the present report, the patient was pacemaker dependent. Hence, we preferred to fi rst stabilise the patient with another temporary transvenous pacing electrode before manipulating the perforated lead. There was no evidence of structural heart disease and hence removal of perforated lead under fl uoroscopic guidance was undertaken with vigilant monitoring for possible complications. To conclude, lead perforation is an important consideration in a paced individual with new onset of symptoms and abnormal electrocardiogram. Although lead perforation is associated with the risks of cardiac tamponade or pneumohemothorax, the main problem is usually with pacing failure. Management is infl uenced by the presence or absence of underlying myocardial disease and the ability to achieve spontaneous haemostasis.

Background: Patients' who are positive for kinase domain activating mutations in epidermal growth factor receptor (EGFR) gene, constitute 30–40% of non-small cell lung cancer (NSCLC), and are suitable candidates for Tyrosine Kinase Inhibitor based targeted/personalized therapy. In EGFR non-mutated subset, 8–10% that show molecular abnormalities such as EML4-ALK, ROS1-ALK, KIP4-ALK, may also derive the benefit of targeted therapy. However, 40% of NSCLC belong to a grey zone of tumours that are negative for the clinically approved biomarkers for personalized therapy. This pilot study aims to identify and classify molecular subtypes of this group to address the un-met need for new drug targets in this category. Here we screened for known/novel oncogenic driver mutations using a 46 gene Ampliseq Panel V1.0 that includes Ser/Thr/Tyr kinases, transcription factors and tumor suppressors. Methods: NSCLC with tumor burden of at least 40% on histopathology were screened for 29 somatic mutations in the EGFR kinase domain by real-time polymerase chain reaction methods. 20 cases which were EGFR non-mutated for TK domain mutations were included in this study. DNA Quality was verified from each of the 20 cases by fluorimeter, pooled and subjected to targeted re-sequencing in the Ion Torrent platform. Torrent Suite software was used for next generation sequencing raw data processing and variant calling. Results: The clinical relevance and pathological role of all the mutations/variants that include SNPs and Indels was assessed using polyphen-2/SIFT/PROVEAN/mutation assessor structure function prediction programs. There were 10 pathogenic mutations in six different oncogenes for which annotation was available in the COSMIC database; C420R mutation in PIK3CA, Q472H mutation in vascular endothelial growth factor receptor 2 (VEGFR2) (KDR), C630W and C634R in RET, K367M mutation in fibroblast growth factor receptor 2 (FGFR2), G12C in KRAS and 4 pathogenic mutations in TP53 in the DNA binding domain (E285K, R213L, R175H, V173G). Conclusion: Results suggest, a potential role for PIK3CA, VEGFR2, RET and FGFR2 as therapeutic targets in EGFR non-mutated NSCLC that requires further clinical validation.

Percutaneous transseptal mitral commissurotomy (PTMC) is the treatment of choice in rheumatic mitral stenosis. The reuse of sterilised PTMC balloon catheters is widely practised to bring down the procedure cost and have proven safety and efficacy. The reused balloons may deform and are prone to rupture causing fatal complications like embolism either of the torn balloon material or air. We report a first case of Accura balloon rupture during PTMC to the best of our knowledge. Fortunately, there was no complication in our patient. Thus, during the balloon preparation it should be examined for any deformity or tear and air should be removed completely to prevent fatal outcome. The repeated use of the hardware should be limited and an informed consent regarding the possible complications of the reused hardware should be taken.

We report an interstitial deletion in the short arm of the X chromosome in a 6-year-old boy with Duchenne muscular dystrophy, glycerol kinase deficiency, adrenal insufficiency, intermittent hypoglycemia, spasticity, psychomotor retardation, and growth delay. His mother also has this deletion in an X chromosome. From our findings, we propose that the human glycerol kinase locus and the human X-linked adrenal hypoplasia locus are in the Xp21 band.

The presence of tendon xanthomas is an almost certain indicator of familial hypercholesterolemia (FH). They also reflect coronary atherosclerotic burden and therefore must be treated aggressively. Tendon xanthomas also occur in two rare conditions, cerebrotendinous xanthomatosis and sitosterolemia, which are not easily confused with FH, can be easily differentiated with clinical history and biochemical tests.