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Oral cancer (OC) is the sixth most common global malignancy and blazing dilemma all over India. Tobacco and alcohol consumption are the well-established risk factors for the onset of oral cancer. G...

Background Human Papillomavirus (HPV) is a small, non-enveloped, icosahedral and double-stranded DNA virus with a genome of 8 kb, belonging to the papillomaviridae family. HPV has been associated with 99.7% cases of cervical squamous cell carcinoma worldwide. The HPV E6 protein is known as a potent oncogene and is closely allied with the events that result in the malignant transformation of virally infected cells. Objective The present study aims to target plant derived anticancer molecules for HPV driven cancer using a computational approach. Methods In this study, E6 oncoprotein was targeted by 101 plant-derived nutraceuticals using the molecular docking method. The multiple sequence analysis and phylogenetic analysis of low risk and high risk 28 HPV E6 proteins were performed. Results Withanolide D, Ginkgetin, Theaflavin, Hesperidin, and Quercetin-3-gluconide were identified as the potential inhibitors of HPV 16 E6 protein. The zinc finger domain was identified on all variants of HPV E6 oncoprotein while high-risk HPV18, HPV31, HPV33, HPV35, HPV39, HPV45, HPV58, HPV68 and HPV73: probable risk HPV53 and low-risk HPV43 and HPV70 contain PDZ domain. Conclusion The current study using bioinformatics analysis approaches reveals a promising platform for developing anti-cancerous competitive inhibitors targeting HPV. .

Context Adrenoleukodystrophy (ALD) is a peroxisomal disorder associated with neurologic decompensation and adrenal insufficiency. Newborn screening for ALD has recently been implemented in five states with plans to expand to all 50 states in the United States. Adrenal insufficiency ultimately develops in most males with ALD, but the earliest age of onset is not well established. Objective These clinical recommendations are intended to address screening for adrenal insufficiency in boys identified to have ALD by newborn screen. Participants Seven members of the Pediatric Endocrine Society Drug and Therapeutics/Rare Diseases Committee, with clinical experience treating children with ALD and adrenal insufficiency, and a pediatric endocrinologist and laboratory director were selected to be on the working committee. Consensus Process The authors comprised the working group and performed systematic reviews of the published literature regarding adrenal insufficiency and ALD. The recommendations were reviewed and approved by the larger Pediatric Endocrine Society Drug and Therapeutics/Rare Diseases Committee and then by the Pediatric Endocrine Society Board of Directors. Conclusions There is limited literature evidence regarding monitoring of evolving adrenal insufficiency in male infants and children with ALD. The recommendations suggest initiating assessment of adrenal function at diagnosis with ALD and regular monitoring to identify boys with adrenal insufficiency in a timely manner and prevent life-threatening adrenal crisis. These recommendations are intended to serve as an initial guide, with the understanding that additional experience will inform future guidelines.

Oral squamous cell carcinoma (OSCC)—a subset of head and neck cancer is the sixth most common cancer worldwide and leading disease in India. The genes involved in PI3 K/AKT (Phosphatidylinositol 3-kinase—Akt) pathway, such as PIK3CA (Phosphoinositide-3-kinase catalytic α) and PTEN (Phosphatase and tensin homologue) were found to be associated with OSCC. The present study was aimed to find the genetic association of various polymorphisms in intron 9 of the PIK3CA gene and intron 5 of PTEN gene with primary OSCC tumors. 50 OSCC patients for PIK3CA gene, 60 OSCC patients for PTEN gene and 72 healthy individuals were included in the study. PCR-direct sequencing analyzed the polymorphisms in intron 9 of PIK3CA and intron 5 of PTEN gene. We observed rs114587137 (C>T) and rs17849071 (T>G) SNPs in intron 9 of the PIK3CA gene and rs35560700 (C>T) SNP in intron 5 of the PTEN gene. T allele of rs17849071 (T>G) was associated with the high-risk allele for developing OSCC; while G allele seemed to have the protective effect against OSCC (P = 0.02). We found an inverse association of rs17849071 (T>G) with OSCC development.

Background: The prevalence of anemia in pregnant women has remained unacceptably high worldwide despite the fact that routine iron supplementation during pregnancy has been almost universally recommended to prevent maternal anemia. The major problem with iron supplementation during pregnancy is compliance. The objective of this study was to correlate iron supplements compliance among pregnant women and incidence of anemia during pregnancy. Methods: A Prospective observational study was conducted over a period of nine months from August 2015 to April 2016 in the department of obstetrics and gynecology, Bharati Hospital and Research Center, Pune. Pregnant women more than 14 weeks who attended antenatal care unit were enrolled in this study. Data for compliance was collected by two methods - first by personal interview as well as looking for the empty iron tablet strips. Pregnant women were followed till the date of delivery and maternal outcome were noted. Results: Our results show that 64% were strictly compliant, 33% with partially complaint and 3% with non-complaint with iron supplements. The mean Hemoglobin concentration of pregnant women who strictly complies with iron supplements were 11.6 g/dl where the non-compliant and partially complaint to iron supplements were 9.7 g/dl. The prevalence of anemia was found to be more in partial and non-compliant to iron supplements (13% p value

BackgroundDespite the fact that up to a third of the global population has metabolic syndrome (MetS), it has been overlooked in clinical settings. This study assesses the impact of a physician-supervised nonsurgical weight management program on the prevalence of MetS and its key indicators.MethodsFour-hundred seventy-nine overweight and obese participants aged 19 years or older were included in a prospective longitudinal study. Changes in MetS and its key indicators were assessed using the binomial exact, chi-square and Wilcoxon signed-rank tests in an intent-to-treat study population. Differences in age strata were assessed using a generalized linear model.ResultsFifty-two percent of participants (n = 249) had MetS at baseline. Prevalence of MetS decreased steadily with significant changes from baseline observed at weeks 13 (31.8%, P ConclusionThese findings confirm that weight loss is inversely associated with prevalence of MetS and its key indicators among overweight and obese individuals. Future studies may benefit from a larger sample size and better retention (ClinicalTrials.gov ID: NCT03588117).

Objectives The purpose of this study was to review use of pelvic computed tomography (CT) and sonography in the emergency department for women of reproductive age and to identify cases in which sonography might have been adequate. Methods Computed tomographic and sonographic examinations of the pelvis performed on women up to 55 years of age in our emergency department during a 6-month period were reviewed. Repeated CT and CT with indications for which sonography would not be the first-line imaging modality (eg, diverticulitis and trauma) were excluded. For the sonographic-only assessment, repeated sonography and sonography with indications for which CT would not be the first-line imaging modality (eg, vaginal bleeding) were excluded. Patient referral indications, imaging diagnoses, and discharge diagnoses were compared for the groups with CT only, CT first, sonography first, and sonography only. Results Of 509 women who underwent CT, 407 (80%) underwent CT only; 54 (11%) underwent CT first; and 48 (9%) underwent pelvic sonography first. The percentages with negative CT findings were 42%,17%, and 50%, respectively. Overall, 63 (CT only), 38 (CT first), and 12 (sonography first) patients had CT diagnoses of pelvic conditions only (113 of 509 women [22%]). Of the patients with CT and discharge diagnoses of pelvic conditions, 36 of 44 (82%) had CT only or CT first; 58 of 110 (53%) of cases with sonography only showed acute pelvic conditions. Conclusions Twenty-two percent of pelvic CT examinations performed in women of reproductive age in our emergency department showed only pelvic conditions, suggesting that sonography would have been a reasonable primary imaging test for these patients.

From the stand point of radiographic analysis most of the complex cyanotic congenital heart diseases (CHD), can be divided into those associated with decreased or increased pulmonary vascularity. Combination of a specific cardiac configuration and status of lung vasculature in a clinical context allows plain film diagnosis to be predicted in some CHD. Correlation of the position of the cardiac apex in relation to the visceral situs is an important information that can be obtained from the plain film. This information helps in gathering information about the atrio-ventricular, ventricular arterial concordance or discordance. Categorization of the cyanotic heart disease based on vascularity is presented below. Thorough understanding of cardiac anatomy by different imaging methods is essential in understanding and interpreting complex cardiac disease. Basic anatomical details and background for interpretation are provided in the previous parts of this presentation.

Background: To investigate pattern of Congenital Heart Defects in 22q11 microdeletion syndrome.Methods: A retrospective study from year 2006 to 2015 of children with 22q11 microdeletion and pattern of Congenital Heart Defects.Results: Ninety-Six children with Fluorescent in-situ Hybridisation positive for 22q11.2 microdeletion and Congenital Heart Defects were identified. Out of these 96, the most common Congenital Heart Defect variants were Tetralogy of Fallot (39.58%), Pulmonary Atresia with Ventricular Septal Defect (29.16%), and isolated Ventricular Septal Defect (10.4%). Conotruncal defects constituted majority (82%) followed by Ventricular Septal Defects. Two rare associations were: one child with mitral valve prolapse & another with left pulmonary vein stenosis.Conclusion: 22q11.2 microdeletion syndrome is commonly associated with Congenital Heart Defects. Among children with Congenital Heart Defects and 22q11.2 microdeletion, conotruncal malformations were the most common defects followed by Ventricular Septal Defect.

Background Phosphatase and tensin homolog (PTEN) is the tumor suppressor gene located on chromosome10q23.3. Genetic variations in the PTEN gene have been found in various sporadic tumors. However, petite is known about the genetic profile of the PTEN gene in oral squamous cell carcinoma (OSCC), which is the eighth most common neoplasm worldwide and leading cancer in India. The purpose of the present study was to determine the frequency of genetic variations in the tyrosine phosphatase domain of the PTEN gene in an Indian OSCC subset. Methods We analyzed tyrosine phosphatase domain encoded by exon 5 of the PTEN gene in 59 OSCC primary tumors using PCR - direct genomic sequencing. Result We observed one somatic deletion mutation, IVS4-30delT in three OSCC patients; two of them were at an advanced stage of carcinoma. Moreover, we identified one SNP rs 35560700(C>T), in five OSCC patients with the late stage of oral carcinoma. Conclusion We identified 5% somatic mutational frequency in the intronic region of the tyrosine phosphatase domain of the PTEN gene; however, mutations were found absent in the coding region. Therefore, PTEN gene mutation is not a frequent event in the pathogenesis of OSCC in the targeted Indian cohort.

Rapid evolution in technology in the recent years has lead to availability of multiple options for cardiac imaging. Availability of multiple options of varying capability, poses a challenge for optimal imaging choice. While new imaging choices are added, some of the established methods find their role re-defined. State of the art imaging practices are limited to few specialist cardiac centres, depriving many radiologists and radiologist in-training of optimal exposure to the field. This presentation is aimed at providing a broad idea about complexity of clinical problem, imaging options and a large library of images of congenital heart disease. Some emphasis is made as to the need of proper balance between performing examination with technical excellence in an ideal situation against the need of the majority of patients who are investigated with less optimal resources. Cases of congenital cardiac disease are presented in an illustrative way, showing imaging appearances in multiple modalities, highlighting specific observations in given instance.

Acyanotic heart disease constitutes a significant majority of patient who may present with non-cardiac symptoms. Either they are detected incidentally or present with respiratory complaints. Equipped with knowledge of anatomy by echocardiography and radiographic methods described in previous part of this presentation, diagnosis may be confidently attempted. On plain radiography acyanotic congenital heart diseases have variable appearance depending upon severity of disease. Cardiac size, chamber enlargement and pulmonary vascular pattern are key elements. Typically left to right shunts with large volume flow are associated with pulmonary plethora. Plain radiography has an important role in detecting manifestation of pulmonary arterial hypertension. Severe stenosis of pulmonary valve is associated with pulmonary oligemia. Small intra-cardiac shunts and anomalies of coronary arteries generally present with normal cardiac size and pulmonary arterial pattern. Disease spectrum presented in this illustration demands thorough scrutiny of pulmonary, osseous and abdominal abnormalities. This section illustrates some commonly encountered spectrum of acyanotic cardiac disease.

Little has been reported on fetal diagnosis of choroidal fissure cysts and prediction of the clinical complications that can result. We describe the case of a near-term male infant with prenatally diagnosed choroidal fissure cyst and bilateral clubfeet. His prolonged course in the neonatal intensive care nursery was marked by severe panhypopituitarism, late-onset diabetes insipidus, placement of a cystoperitoneal shunt, and episodes of sepsis. Postnatal genetic evaluation also revealed an interstitial deletion involving most of band 10q26.12 and the proximal half of band 10q26.13. The patient had multiple readmissions for medical and surgical indications and died at 6 months of age. This case represents the severe end of the spectrum of medical complications for children with choroidal fissure cysts. It highlights not only the importance of comprehensive evaluation and multidisciplinary management and counseling in such cases, but also the need for heightened vigilance in these patients.

Chromosomal mosaicism for full aneuploidy involving chromosome 9 is an uncommon chromosomal abnormality. Mosaic trisomy 9 clinical manifestations are highly variable and difficult to predict. The authors present a case of mosaic trisomy 9 with typical clinical manifestations(facial dysmorphism, various internal organ malformations and severe psychomotor retardation), pigmentary mosaic skin lesions along the lines of Blaschko and evidence of maternal uniparental disomy in skin.

Introduction : Pulmonary vascular disease is a risk factor in the surgical management of patients with d-transposition of great arteries (d-TGA) and a ventricular septal defect (VSD). In older infants or children with this physiology, the question of operability often arises. Cardiac catheterization in this condition can be fallacious. It is well known that oxygen reduces pulmonary arterial pressure and pulmonary vascular resistance especially where irreversible pulmonary vascular obstructive disease has still not set in. We tried to implement this effect of oxygen in correlation with echocardiography in patients with TGA-VSD physiology where operability was in question. Methods : Patients with d-TGA and a large post tricuspid shunt in whom operability was considered doubtful were selected for the study. We administered humidified oxygen at the rate of 10 litres/minute by mask for 48 hours in the ward or intensive care unit. After administration of oxygen we reassessed the child echocardiographically looking for signs of lowering of pulmonary vascular resistance which included increased pulmonary venous blood flow to the left atrium (LA) and right to left shunting across the VSD. Observation : We studied 1 patient with d-TGA and aortopulmonary window (APW), 4 patients with TGA / large VSD and 1 patient with Taussig-Bing anomaly. The age of the studied children ranged from 4 months to 3 years with a mean age of 1.1 years. After administering oxygen as described, echocardiogram showed an increase in pulmonary venous blood flow to the LA and right to left shunting across the VSD in 5 patients and increased flow reversal in aorta in presence of the APW. Conclusion : Patients with TGA/VSD physiology with doubtful operability can be subjected to this method of determining operability using echocardiography after administering oxygen. Although not 100% accurate in predicting long term postoperative pulmonary hypertension, this is a simple, noninvasive method that can aid in decision making in such a situation.

Background Safety net urban hospitals are being overwhelmed by an increasing number of patients with diabetes, who frequently only access the health system through visits to emergency departments and urgent care clinics. It is uncertain whether the chronic care model advocated for diabetes care would be feasible and effective for managing diabetes in an acute care setting. Objective Determine if redesigning the system of care for treating diabetic patients who do not have primary care doctors is feasible, acceptable to patients and effectively lowers patients' haemoglobin A1c, blood pressure and cholesterol levels. Design Prospective single cohort study. Patients A total of 1098 consecutive diabetic patients presenting to an urgent care clinic at an urban safety net public hospital in Chicago between October 2004 and April 2006 who had a haemoglobin A1c measured at baseline. Intervention Adapt the chronic care model for managing diabetes to the acute care setting of an urgent care clinic to manage uninsured patients with diabetes who do not have primary care. Results Among the 1098 patients, 833 (76%) had a repeat A1c during the 2- to 12-month follow-up period. On average, A1c values decreased by 1.5 percentage points; systolic blood pressure decreased by 9 mmHg; low-density lipoprotein cholesterol decreased 11 points; and weight decreased 2.3 pounds (all: P

Object Head trauma is a dynamic process characterized by a cascade of metabolic and molecular events. Erythropoietin (EPO) has been shown to have neuroprotective effects in animal models of traumatic brain injury (TBI). Acute in vivo mechanisms and pathological changes associated with EPO following TBI are unknown. In this study the authors compare acute metabolic and pathological changes following TBI with and without systemically administered EPO. Methods Right frontal lobe microdialysis cannulae and right parietal lobe percussion hubs were inserted into 16 Sprague–Dawley rats. After a 4- to 5-day recovery, TBI was induced via a DragonFly fluid-percussion device at 2.5–2.8 atm. Rats were randomized into 2 groups, which received 5000 U/kg EPO or normal saline intraperitoneally 30 minutes after TBI. Microdialysis samples for glucose, lactate, pyruvate, and glutamate were obtained every 25 minutes for 10 hours. Rats were killed, their brains processed for light microscopy, and sections stained with H & E. Results Erythropoietin administered 30 minutes after TBI directly affects acute brain metabolism. Brains treated with EPO maintain higher levels of glucose 4–10 hours after TBI (p < 0.01), lower levels of lactate 6–10 hours after TBI (p < 0.01), and lower levels of pyruvate 7.5–10 hours after TBI (p < 0.01) compared with saline-treated controls. Erythropoietin maintains aerobic metabolism after TBI. Systemic EPO administration reduces acute TBI-induced lesion volume (p < 0.05). Conclusions Following TBI, neuron use initially increases, with subsequent depletion of extracellular glucose, resulting in increased levels of extracellular lactate and pyruvate. This energy requirement can result in cell death due to increased metabolic demands. These data suggest that the neuroprotective effect of EPO may be partially due to improved energy metabolism in the acute phase in this rat model of TBI.

Background Isolated ventricular inversion (atrioventricular discordance with ventriculoarterial concordance) is an extremely rare presentation of cyanotic congenital heart disease. The mode of presentation is akin to D-transposition of great arteries as systemic venous drainage and systemic arterial output connect to the same side of the cardiac septae, and pulmonary venous drainage and pulmonary arterial outflow to the opposite. Systemic oxygenation relies on intracardiac or extracardiac modes of mixing, as does survival, similar to transposition of the great arteries. Published literature is scant, mainly because of the rarity of this cardiac anomaly. We review our surgical experience with this lesion. Methods Five children with isolated ventricular inversion presented to us between the ages of 6 days and 22 months (mean, 12 months). Preoperative echocardiogram diagnosed large interventricular communication in 4, a patent ductus arteriosus in 4, and total anomalous pulmonary venous drainage with supracardiac connection in 1. One had associated narrowing of the left pulmonary artery origin. Four patients had atrial situs solitus, whereas 1 had right atrial isomerism. Three hearts had normally related great arteries whereas in 2, the aorta was to the right and anterior to the main pulmonary artery and arising in parallel fashion from the cardiac mass. Four children underwent trans–right atrial patch closure of the interventricular communications, with ligation of the patent ductus arteriosus. All 4 underwent a concomitant modified Senning's repair. The fifth patient underwent repair of total anomalous pulmonary venous drainage with a Mustard-type repair. One needed concomitant repair of the mitral valve for injury to a free edge chorda sustained during closure of the ventricular defect. Results There was 1 early death. Complete heart block developed in 2 children, of which 1 needed permanent pacemaker insertion, whereas the other converted to sinus rhythm with intermittent atrial tachycardia. All survivors are doing well on follow-up, at a follow-up duration ranging from 6 to 48 months (mean, 18). Conclusions Repair of isolated atrioventricular discordance can be successfully achieved in the majority of patients presenting with this complex anomaly.

Rhabdomyosarcoma is the most common sarcoma in children and is difficult to treat if the primary tumor is nonresectable or if the disease presents with metastases. The function of the serine/threonine kinase Mirk was investigated in this cancer. Mirk has both growth arrest and survival functions in terminally differentiating skeletal myoblasts. Maintenance of Mirk growth arrest properties would cause down-regulation of Mirk in transformed myoblasts. Alternatively, Mirk expression would be retained if rhabdomyosarcoma cells used Mirk survival capability. Mirk expression was significant in 12 of 16 clinical cases of rhabdomyosarcoma. Mirk was detected in each rhabdomyosarcoma cell line examined. Mirk was a functional kinase in each of three rhabdomyosarcoma cell lines, where it proved to be more active than in C2C12 skeletal myoblasts. Mirk mediated survival of the majority of clonogenic rhabdomyosarcoma cells. Knockdown of Mirk by RNA interference reduced the fraction of RD and of Rh30 rhabdomyosarcoma cells capable of colony formation 3- to 4-fold in multiple experiments. Depletion of Mirk induced cell death by apoptosis, as shown by increased numbers of terminal deoxynucleotidyl transferase–mediated nick-end labeling–positive cells and by increased binding of Annexin V. Mirk is a stress-activated kinase that mediates expression of contractile proteins in differentiating myoblasts, but Mirk is not essential for muscle formation in the embryo. It is likely that Mirk also facilitates survival of satellite cell–derived rhabdomyoblasts in regenerating skeletal muscle and aids their differentiation. This survival function is maintained in rhabdomyosarcoma, where Mirk may be a novel therapeutic target. (Cancer Res 2006; 66(10): 5143-50)

Purpose Vitamin D deficiency and cardiometabolic risk factors are common in obese adolescents. Observational studies demonstrate an inverse relationship among serum 25-hydroxyvitamin D (25OHD) and obesity, insulin resistance, and inflammatory cytokines. This pilot study explores if vitamin D supplementation could reduce serum concentrations of inflammatory cytokines (interleukin [IL] 6, IL-10, tumor necrosis factor α), adiponectin, lipids, hemoglobin A1C, and high-sensitivity C-reactive protein (hs-CRP). A secondary aim was to determine the associations between baseline serum 25OHD concentrations and body mass index (BMI), hs-CRP, inflammatory cytokines, and lipids. Methods Overweight and obese adolescents enrolled in this 24-week, randomized, double-blind study were given 150,000 IU ergocalciferol or placebo at baseline and 12 weeks. Outcome measurements included serum 25OHD, inflammatory cytokines, adiponectin, hs-CRP, lipids, hemoglobin A1C, and BMI at baseline, 12, and 24 weeks. Results Of 40 participants, 31 (78%) completed the study. Mean ± standard error 25OHD levels were similar in vitamin D and placebo groups at baseline (19.6 ± 5.3 vs. 25.8 ± 10.8 ng/mL) and 24 weeks (20.1 ± 3.4 vs. 24.6 ± 8.4 ng/mL). Inflammatory and cardiovascular markers were not significantly different between groups at 24 weeks. Serum 25OHD at baseline was associated with BMI ( r = −.44 [95% confidence interval, −.66 to −.15]) but not with other outcome measures. Conclusions Supplementation with vitamin D at 150,000 IU every 3 months failed to increase serum 25OHD or alter inflammatory markers and lipids in overweight and obese youth. Further studies are needed to establish the dose of vitamin D required to increase 25OHD and determine potential effects on metabolic risk factors in obese teens.

The commonly used Darling classification for total anomalous pulmonary venous connection (TAPVC) consists of supracardiac, cardiac, infracardiac, and mixed types (Craig et al., Lab Invest 6:44-64, 1967). In supracardiac TAPVC, the common pulmonary vein drains superiorly into the left innominate vein, the superior vena cava, or the azygos vein by way of an ascending vertical vein. We describe a case of supracardiac TAPVC draining into the azygos vein atypically by way of a descending vertical vein.

Patients often present to family physicians complaining of swellings or “knots” in their neck. Many represent benign lymphadenopathy. However, especially in smokers and the elderly, this may be the initial presentation of life-threatening disease. We present a case of a worrisome neck mass in an older ex-smoker that proved to be a benign Warthin tumor. Although this is the second most common benign tumor of the parotid, 1 neither we nor our colleagues were familiar with it. Furthermore, we could find no mention of it in the family medicine literature. The following case illustrates many of the features typical of Warthin tumor. This interesting tumor is the only benign neoplasm associated with smoking. 1 A better understanding of this tumor could help family physicians maintain a broader initial differential diagnosis in such cases and improve their understanding of the diagnostic approach to masses in this area. Case Report A 78-year-old white man with a history of melanoma of the ear presented for evaluation of a neck mass. He first noted the mass 2 years earlier. He reported that it was larger at first but shrank slightly after a course of oral antibiotics. Since that time, its size had not changed. The mass was completely asymptomatic. Review of systems revealed no hoarseness, dysphagia, or weight loss. Twelve years earlier, he had been diagnosed with level 1 Clark melanoma of the pinna of the left ear. He underwent prompt excision, and no recurrence had been noted on follow-up. Past medical history was also positive for multiple medical problems, including recurrent transient ischemic attacks, myocardial infarction, coronary artery bypass grafting, congestive heart failure, cardiac pacemaker, and automatic implanted cardiac defibrillator (AICD) for ventricular tachycardia. He was taking multiple medications, including warfarin. Social history was positive for 75 pack-years of smoking, although the patient quit 17 years before the visit. Physical examination revealed a 2 2-cm nontender mass below the angle of the left jaw. The consistency of the mass was slightly softer than a typical lymph node. The mass was mobile and did not seem to be attached to either the skin or underlying structures. No other masses were noted in the head and neck. No adenopathy was noted in the groin, axilla, or extremities. Skin revealed no evidence of melanoma recurrence. Because of the patient’s pacemaker and AICD, magnetic resonance imaging (MRI) was not performed. Soft tissue computed tomography (CT) of the neck (without contrast because of prior anaphylaxis from contrast) revealed a 2-cm mass at the lower pole of the parotid (Figure 1). The mass was dense with lower central density and well defined margins. Given the patient’s history, the CT was read as highly suspicious for nodal metastasis of melanoma. Warfarin was temporarily suspended, and fine-needle biopsy was performed without complication. Biopsy revealed glandular epithelial cells in a lymphoid stroma, the characteristic histology of a benign Warthin tumor (see Figure 2). The patient recovered from the procedure uneventfully. After discussion of treatment options, the patient chose no further treatment. Six months after biopsy, the mass remained asymptomatic and essentially unchanged.

Allogeneic (genetically different, same species) hematopoietic stem cell transplantation (HSCT) is a curative therapy for a variety of hematological malignancies, autoimmune diseases, inherited disorders of metabolism, histiocytic disorders, and other malignant solid tumors. The number and indications for HSCT continue to increase, with more than 30,000 procedures performed annually across the world. The number of unrelated donor transplants, the most commonly performed transplant, is expected to double within the next 5 years due to improvements in techniques including donor leukocyte infusions and isolation of umbilical cord stem cells.

Aortic arch (AA) anomalies are usually associated with congenital heart disease. Variations such as aberrant subclavian artery have significance if shunt surgery is planned. Other variations may be clinically insignificant or present with respiratory or oesophageal symptoms. Demonstration and understanding of arch anomalies are crucial for managing as well as improving our understanding of their embryological basis. This presentation illustrates an unusual branching pattern of AA in a patient with an aortopulmonary window in which five arteries independently arose from the AA. CT imaging appearance of the anomaly is illustrated. A brief description of the embryological basis and significance of the anomaly is presented.

Graft versus H\host disease (GVHD) can be a devastating complication following bone marrow transplantation. Acute or chronic systemic GVHD can be lethal, and severe damage of different organs and tissues can occur with both types of GVHD. Ocular involvement, either in an acute or chronic presentation, may range from mild to severe with accompanying vision loss present in 60–90 % of patients. Chronic ocular GVHD, the most common form of GVHD, affects mainly the lacrimal gland, meibomian glands, cornea and conjunctiva, mimicking other immunologically mediated inflammatory diseases of the ocular surface without specific symptoms or signs. However, dry eye disease is the main manifestation of GVHD. The long-term treatment of ocular GVHD continues to be challenging and involves a multidisciplinary approach wherein the ophthalmologist plays a major role. Besides systemic immunosuppression and ocular lubricants, topical steroids and topical cyclosporine are commonly prescribed. Newer therapeutic interventions for moderate and severe ocular GVHD include the use of serum eye drops and scleral contact lenses. In this manuscript, we review the mechanisms, clinical findings, and treatment of ocular GVHD.

Common arterial trunk is relatively a straightforward diagnosis on echocardiography. We describe a neonate who was referred to our centre as a case of common arterial trunk but on evaluation was found to have pulmonary atresia with ventricular septal defect and aortopulmonary window, for which he underwent repair with Barbero-Marcial technique. These two conditions differ anatomically and embryologically, and careful echocardiographic evaluation will help in diagnosis and appropriate management.

Introduction This study evaluated the impact of a waiting room-administered, low-literacy, computer multimedia diabetes education program on patient self-management and provider intensification of therapy. Methods In this randomized, controlled trial, 129 participants either viewed a computer multimedia education program (intervention group) or read an educational brochure (control group) while in the waiting room. Participants were uninsured, primarily ethnic minority adults with type 2 diabetes receiving care from a county clinic in Chicago, Illinois. Wilcoxon test, t-test, and linear mixed model analyses evaluated changes in diabetes knowledge, self-efficacy, behaviors, medications prescribed, hemoglobin A1c (HbA1c), and blood pressure levels over 3 months. Results During the study period, there was an increase in the number of oral diabetes medications prescribed over three months to multimedia users compared with those in the control group (P=0.017). HbA1c declined by 1.5 in the multimedia group versus 0.8 in the control group (P=0.06). There were no differences between groups in changes in blood pressure levels, self-efficacy, and most diabetes-related behaviors. Self-reported exercise increased in the control group compared with the multimedia group (0.9 days/week vs. 0.1 days/week, P=0.016). Conclusion Multimedia users received a greater intensification of diabetes therapy, but demonstrated no difference in self-management in comparison with those receiving educational brochures. The availability of a computer multimedia program in the waiting room appears to be a novel and acceptable approach in providing diabetes education for underserved populations.

Williams-Beuren syndrome (WBS) is one of the microdeletion syndromes associated with distinct facial features, characteristic behavior phenotype (overfriendly behavior), congenital heart disease, and other malformations. Clinical features in WBS are age dependent. It is important to be aware of variable age dependent phenotype, especially facial phenotype due to its crucial role in diagnosis. Here we describe the facial phenotype of WBS at different ages (3 months to 15.1 years) and congenital heart malformations in 27 patients FISH positive for 7q11.23 microdeletion.

Objective Anatomic repair is being actively evaluated as the preferred option for congenitally corrected transposition of the great arteries. We present our 13-year experience with this approach. Methods Between May 1994 and September 2007, 68 patients with congenitally corrected transposition of the great arteries underwent anatomic repair. Thirty-one patients (group 1, mean age of 94.8 ± 42.3 months) underwent a combined Rastelli and atrial switch operation. Thirty-seven patients (group 2, mean age of 36.1 ± 46.9 months) underwent an arterial switch operation and atrial rerouting. Eight patients in group 2 had an intact ventricular septum. Results Group 1 had 5 early deaths (17%) but no late deaths. Three patients underwent conduit revision at a mean follow-up of 62 months. Group 2 had 5 early deaths (13.5%). There were 4 late reoperations (2 pulmonary baffle revisions, 1 mitral valve replacement, and 1 permanent pacemaker implantation) and 4 late deaths (1 secondary to progressive left ventricular dysfunction, 2 secondary to uncontrolled atrial tachyarrhythmia, and 1 secondary to pulmonary hypertension and right ventricular failure). In group 2, 4 patients have a left ventricular ejection fraction less than 40%, 5 patients have moderate aortic incompetence, 5 patients have symptomatic tricuspid incompetence, 1 patient has tricuspid stenosis, 1 patient has superior cava obstruction, and 3 patients are receiving antiarrhythmic therapy. Conclusion The occurrence of left ventricular dysfunction indicate that anatomic repair in the arterial switch group is still fraught with imperfections. The Rastelli group required conduit revisions but has otherwise performed well.

Oral Squamous Cell Carcinoma (OSCC) - the subset of Head and Neck Cancer is the sixth most common cancer worldwide and leading cancer in India. Western part of India (Gujarat) is a prime tobacco growing belt, henceforth, has a high tobacco consumption and increased occurrence of oral cancer. Phosphatidylinositol- 3- kinase (PI3K) is heterodimeric protein kinase composed of catalytic subunit, p110α, and a regulatory subunit, p85α; which regulates cell proliferation, apoptosis, and metastasis. The PIK3CA gene, encodes p110α catalytic subunit, when somatically mutated gets highly deregulated in number of cancers. Canonical mutations E542K, E545K and H1047R in p110α have proven to have higher oncogenic potential, subsequently activating downstream pathways. However, this observation has been reported in limited ethnicity in OSCC. Therefore, we have analyzed mutation profile of exon9 and 20 of PIK3CA gene in 50 OSCC primary tumors and corresponding control samples by direct sequencing in Indian population. We have observed two hot spots mutations E542K and E545K in exon 9, which were earlier reported to activate downstream signaling pathways and two synonymous mutations C3075T and C2985T in exon 20 in fourteen and one OSCC patients, respectively. Patients harboring oncogenic mutations were at advanced stage of OSCC having tobacco chewing history more than ten years. Additionally, we observed two Single Nucleotide Polymorphism rs114587137 (C>T) and rs17849071 (T>G) in intron 9 of PIK3CA gene, which was found germ line mutated in fifteen and three OSCC patients respectively. In summary, we found 4% (2/50) oncogenic mutation frequency of PIK3CA gene, which may play a crucial role through PI3K downstream signaling pathway in oral neoplasia. Our study supports the notion that lower oncogenic mutation frequency of PIK3CA gene has been found in Asian populations but comparable to that seen in western countries. The knowledge of the involvement of PIK3CA mutations in OSCC is of importance, because a specific kinase inhibitor of PIK3CA may potentially serve as an effective therapeutic target against OSCC as a personalized medicine. Citation Format: Sejal Shah, Siddharth Shah, Harish Padh, Kiran Kalia. Mutational landscape of PIK3CA gene and its association with oral squamous cell carcinoma in Indian population. [abstract]. In: Proceedings of the 106th Annual Meeting of the American Association for Cancer Research; 2015 Apr 18-22; Philadelphia, PA. Philadelphia (PA): AACR; Cancer Res 2015;75(15 Suppl):Abstract nr 581. doi:10.1158/1538-7445.AM2015-581

Aim: The present study was undertaken to assess the accuracy of pediatric echocardiograms done at non-tertiary centers and to evaluate the relationship of inaccurate interpretations with age, echocardiogram performer and complexity of congenital heart disease (CHD). Materials and Methods: The echocardiogram reports of 182 consecutive children with CHD (5 days-16 years) who were evaluated at a non-tertiary center and subsequently referred to our center were reviewed. Age of the child at echocardiogram, echocardiogram performer and complexity of CHD were noted. These reports were compared with echocardiogram done at our center. Discrepancies were noted and categorized. To assess our own error rate, we compared our echocardiogram reports with the findings obtained during surgery (n = 172), CT scan (n = 9) or cardiac catheterization reports (n = 1). Results: Most of the children at the non-tertiary center (92%) underwent echocardiogram by personnel other than a pediatric cardiologist. Overall, diagnostic errors were found in 69/182 (38%) children. Moderate and major discrepancies affecting the final management were found in 42/182 (23%) children. Discrepancies were higher when the echocardiogram was done by personnel other than pediatric cardiologist (P < 0.01) and with moderate and high complexity lesions (P = 0.0001). There was no significant difference in proportion of these discrepancies in children ≤ 1 year vs. >1 year of age. Conclusions: A significant number of pediatric echocardiograms done at non-tertiary centers had discrepancies that affected the management of these children. More discrepancies were seen when the echocardiogram performer was not a pediatric cardiologist and with complex CHD.

Background: Fetal echocardiography is a well established sensitive tool to diagnose congenital heart disease (CHD) in utero. One of the determinants of effective utilization of fetal echocardiography is its awareness in the general population. The present hospital based study was undertaken to assess the awareness of the need for fetal echocardiography amongst Indian parents. Methods: One thousand one hundred and thirty eight consecutive parents who visited the pediatric cardiology outpatient department of a tertiary care centre over a period of two months were asked to fill up a questionnaire that included their demographic data, educational status, history of CHD in children, awareness of fetal echocardiography and source of information and timing of fetal echocardiogram if performed. The data was categorized and awareness was noted in different groups. Results: The awareness in the study population was 2.2%. Awareness was found to be similar across the study population irrespective of the demographics and high risk status of the parents. Conclusions: The awareness of fetal echocardiography, an important tool in reducing the incidence of complex CHD, thereby impacting public health, is alarmingly low in the population studied. Appropriate action to increase awareness of fetal echocardiography needs to be looked into.

Cutaneous leishmaniasis and human immunodeficiency virus (HIV) co-infection is emerging as increasingly frequent and serious new disease. Leishmaniasis may be acquired before or after HIV infection. We describe two cases of post-kala-azar dermal leishmaniasis in HIV-positive patients. Both the patients had papulonodular lesions on upper extremities and back with low CD4 count. Slit skin smear with giemsa stain revealed Leishman Donovan (LD) bodies and skin biopsy of both the patients revealed lymphohistiocytic infiltrate with numerous intracytoplasmic LD bodies.

We describe the findings in a neonate with aortic atresia, interruption of the aortic arch between the carotid arteries, and aortopulmonary window. This unusual association changes the anticipated physiology, and helps in the survival. We emphasize the fact that this combination simulates common arterial trunk, both clinically and on echocardiography.

We report a case of intracardiac calcification associated with oculomotor apraxia and corneal deposits in a 12-year-old girl, who presented with dyspnea on exertion, sinusitis, and epistaxis since the age of 6 years. Unusual presentation with multiorgan involvement prompted us to evaluate her in terms of metabolic/storage disorder. The bone marrow aspirate confirmed the diagnosis of Gaucher's disease.

We present a 5 month old baby who was referred for an incidental detection of a murmur and was found to have tortuous pulmonary arteries with multiple peripheral pulmonary stenoses and bilateral inguinal hernia pointing towards the diagnosis of arterial tortuosity syndrome.