Importance of screening the peripheral smear

A 5-year-old boy presented with history of failure to thrive from infancy. There was a history of one sibling death due to similar problems and history of severe abortions in the mother. Routine examination of peripheral smear revealed more than 50% acanthocytes. Based on this tests were streamlined to doing lipid profile and Lipo protein electrophoresis which revealed hypolipidemia and absent Β hypo protein band. Jejuna) mucosal biopsy confirmed the diagnosis of A Beta Lipo proteinemia which revealed lipid laden enterocytes. This case illustrates the importance of simple tests like peripheral smear examination in streamlining further tests in the diagnosis of major diseases.     

Flow requirements for the Bain breathing circuit during anaesthesia for caesarean section

We studied the relationship between arterial carbon dioxide tension (PaCO2) and fresh gas flow (FGF) during use of the Bain breathing circuit for Caesarean section anaesthesia. Thirty-one patients undergoing Caesarean section were anaesthetised using the Bain circuit with intermittent positive pressure ventilation. The PaCO2 were measured at FGF of 70 ml X kg-1 X min-1, 80 ml X kg-1 X min-1, and 100 ml X kg-1 X min-1. The FGF requirement to maintain a given PaCO2 during Caesarean section anaesthesia is the same as the requirements for nonpregnant subjects, despite the increase in carbon dioxide production associated with pregnancy. This is probably because the total FGF determined by body weight and given during Caesarean section anaesthesia is 15-20 per cent higher than nonpregnant levels, due to the weight gain associated with pregnancy. A FGF of 100 ml X kg-1 of pregnant weight/min maintains PaCO2 of 4.44 kPa predelivery, which is in the desirable range of PaCO2 during Caesarean section.     

Endocardial catheter ablation of ventricular tachycardia in patients with ventricular assist devices

BACKGROUND: The outcomes of patients with ventricular assist devices (VADs) who undergo catheter ablation for ventricular tachycardia (VT) have not been reported. OBJECTIVE: The purpose of this study was to assess the feasibility, safety, and efficacy of endocardial VT ablation in patients with VADs. METHODS: We retrospectively reviewed three cases at our institution where endocardial catheter ablation was performed in patients with VADs and incessant VT. RESULTS: Three patients with underlying cardiomyopathies and VADs underwent VT ablation for incessant VT refractory to multiple antiarrhythmic medications. In each case, VT was either eliminated or significantly ameliorated by catheter ablation. No procedure-related complications occurred. The hemodynamic stability afforded by the VAD played an important role in facilitating ablation in two of the cases. CONCLUSION: Catheter ablation for VT in VAD patients appears to be feasible, safe, and effective based on our initial experience. Several technical issues, such as decreases in ventricular volumes that can limit maneuverability of the ablation catheter and potential entrapment of the mapping catheter in the inflow cannula, need to be considered at the time of ablation.     

Costello syndrome: Clinical phenotype,genotype, and management guidelines

Costello syndrome (CS) is a RASopathy caused by activating germline mutations in HRAS. Due to ubiquitous HRAS gene expression, CS affects multiple organ systems and individuals are predisposed to cancer. Individuals with CS may have distinctive craniofacial features, cardiac anomalies, growth and developmental delays, as well as dermatological, orthopedic, ocular, and neurological issues; however, considerable overlap with other RASopathies exists. Medical evaluation requires an understanding of the multifaceted phenotype. Subspecialists may have limited experience in caring for these individuals because of the rarity of CS. Furthermore, the phenotypic presentation may vary with the underlying genotype. These guidelines were developed by an interdisciplinary team of experts in order to encourage timely health care practices and provide medical management guidelines for the primary and specialty care provider, as well as for the families and affected individuals across their lifespan. These guidelines are based on expert opinion and do not represent evidence‐based guidelines due to the lack of data for this rare condition.     

Perceived access to health care and its influence on the prevalence of behavioral risks among urban African Americans

INTRODUCTION: Individuals who have difficulty gaining access to health care may delay seeking and obtaining treatment, underutilize preventive health care services, and may have a high prevalence of chronic disease risks. This report examines participant perception of the level of difficulty encountered when obtaining medical care and its influence on the prevalence of chronic disease behavioral risks among urban African Americans. RESULTS: We found a significantly higher prevalence of current cigarette smoking and alcohol consumption among African Americans who reported that they experienced difficulty in obtaining medical care than among those who did not. Compared to those who experienced no difficulty obtaining care, participants who perceived a high level of difficulty in obtaining care were less likely to have had a physical exam in the past year and to have seen the same doctor when services were obtained. CONCLUSION: The perception of a high level of difficulty obtaining health care may be associated with a higher prevalence of behavioral risks for chronic disease. The limited data suggest a need to more closely examine the perception of health care accessibility and its relationship to health services utilization and the prevalence of chronic disease behavioral risks.     

Retardation of calcification of bovine pericardium used in bioprosthetic heart valves by phosphocitrate and a synthetic analogue

The purpose of this study was to determine if phosphocitrate (PC), a naturally occurring inhibitor of calcification, and its synthetic analogue, N-sulpho-2-amino tricarballylate (SAT), administered either by daily injection or local delivery via Alzet osmotic minipump, could inhibit calcification of glutaraldehyde-preserved bovine pericardium used in bioprosthetic heart valves, subcutaneously implanted in rats. Local drug delivery, but not systemic administration, was effective. PC, administered by Alzet minipump (12 mg.kg-1.day-1), inhibited calcification significantly (tissue calcium = 5 +/- 2 micrograms/mg dry tissue, mean +/- SEM), compared with untreated or saline-treated controls (89 +/- 9 and 49 +/- 9 micrograms/mg, respectively). SAT, administered by the same route at both the same and a higher molar dosage, was less potent (tissue calcium = 26 +/- 9 micrograms/mg and 17 +/- 5 micrograms/mg, respectively). PC and SAT therapy were not associated with adverse effects. We conclude that locally administered PC and SAT can inhibit intrinsic calcification of bovine pericardium, with PC being more potent.