Genetic Analysis in Bartter Syndrome from India

Bartter syndrome is a group of inherited, salt-losing tubulopathies presenting as hypokalemic metabolic alkalosis with normotensive hyperreninemia and hyperaldosteronism. Around 150 cases have been reported in literature till now. Mutations leading to salt losing tubulopathies are not routinely tested in Indian population. The authors have done the genetic analysis for the first time in the Bartter syndrome on two cases from India. First case was antenatal Bartter syndrome presenting with massive polyuria and hyperkalemia. Mutational analysis revealed compound heterozygous mutations in KCNJ1(ROMK) gene [p(Leu220Phe), p(Thr191Pro)]. Second case had a phenotypic presentation of classical Bartter syndrome however, genetic analysis revealed only heterozygous novel mutation in SLC12A gene p(Ala232Thr). Bartter syndrome is a clinical diagnosis and genetic analysis is recommended for prognostication and genetic counseling.     

The Neonatal Resuscitation Program: Current Recommendations and a Look at the Future

The Neonatal Resuscitation Program (NRP) consists of an algorithm and curriculum to train healthcare professionals to facilitate newborn infants’ transition to extrauterine life and to provide a standardized approach to the care of infants who require more invasive support and resuscitation. This review discusses the most recent update of the NRP algorithm and recommended guidelines for the care of newly born infants. Current challenges in training and assessment as well as the importance of ergonomics in the optimization of human performance are discussed. Finally, it is recommended that in order to ensure high-performing resuscitation teams, members should be selected and retained based on objective performance criteria and frequent participation in realistic simulated clinical scenarios.     

Current Status of NICUs in India: A Nationwide Survey and the Way Forward

The number of Neonatal Intensive Care Units (NICUs) and Special Care Newborn Units (SCNUs) in the country has increased exponentially. However, their current status of functioning is not known. A structured questionnaire survey of 70 NICUs spread across the country was conducted to assess their infrastructure, staffing, equipment, patient profile and their involvement in research and training. Majority of the units were well staffed and led by neonatologists trained in India and abroad. All had facilities for mechanical ventilation and were equipped with sophisticated imported equipment. Yet, availability of in-house blood gas and X-ray, microbiology facility, invasive blood pressure monitoring and support of ophthalmologist was not universal. More than half had published papers in scientific journals and were having recognized training programs in neonatology. Though tremendous progress is visible since the last surveys, the number of NICUs is still grossly insufficient. The current and future gap in trained manpower is however daunting, and intensive efforts for expanding the in-service training programs and innovative approaches to training are required. There is an urgent need to improve the quality of care by launching collaborative quality improvement programsand mandatory periodicaccreditation managed by independent empowered organizations. The focus has to move forward from simply ‘survival till discharge’ to ‘intact complete life survival’. Simultaneously, the NICU care has to stay available and affordable for the masses.     

Imaging-based algorithmic approach to gallbladder wall thickening

Gallbladder(GB) wall thickening is a frequent finding caused by a spectrum of conditions. It is observed in many extracholecystic as well as intrinsic GB conditions. GB wall thickening can either be diffuse or focal. Diffuse wall thickening is a secondary occurrence in both extrinsic and intrinsic pathologies of GB, whereas, focal wall thickening is mostly associated with intrinsic GB pathologies. In the absence of specific clinical features, accurate etiological diagnosis can be challenging. The survival rate in GB carcinoma(GBC) can be improved if it is diagnosed at an early stage, especially when the tumor is confined to the wall. The pattern of wall thickening in GBC is often confused with benign diseases, especially chronic cholecystitis, xanthogranulomatous cholecystitis, and adenomyomatosis. Early recognition and differentiation of these conditions can improve the prognosis. In this minireview, the authors describe the patterns of abnormalities on various imaging modalities(conventional as well as advanced) for the diagnosis of GB wall thickening. This paper also illustrates an algorithmic approach for the etiological diagnosis of GB wall thickening and suggests a formatted reporting for GB wall abnormalities.     

Effect of calvarial burring on resorption of onlay cranial bone graft

ABSTRACT: Variable resorption occurs whenever calvarial bone graft is used for onlay cranioplasty. The recipient ectocortex may be burred to expose vessels and osteocytes to maximize healing. The purpose of this study was to determine whether abrading the recipient site improves the volume of onlay graft.The parietal bones of 17 rabbits were sectioned into split-thickness and full-thickness grafts. The right frontal cortex was abraded with a bur to punctate bleeding. Pairs of split-thickness (n = 48) or full-thickness (n = 20) grafts were onlayed to the burred right frontal bone and to the nonburred left frontal bone. Micro-computed tomography was used to determine graft volume immediately postoperatively and 16 weeks later. Histology, including tartrate-resistant acid phosphatase staining, was performed to quantify vascular channels and osteoclasts per high-power field 10 days postoperatively.Split-thickness graft volume decreased 58.0% when placed on the burred calvarial site, compared with grafts on the nonburred cortex (28.4%) (P = 0.01). Full-thickness grafts showed a similar trend: greater resorption (39.1%) when onlayed onto abraded calvaria compared with nonburred ectocortex (26.0%) (P = 0.11). Split-thickness graft orientation (cortical vs cancellous side in contact with the recipient site) did not affect resorption (P = 0.67). Onlay grafts placed on the burred recipient site had more vascular channels (11.8) and osteoclasts (5.7), compared with grafts over nonabraded cortex (3.4 and 4.2, respectively) (P < 0.05).Burring the recipient site cortex before onlay cranial bone grafting promotes resorption, possibly by increasing vascularization and osteoclastic activity. This technique cannot be recommended.     

Dentures with phonetically contoured palate: a simple technique of adding customized rugae and palatal contours to the maxillary denture

Speech is essential to human activity, therefore phonetics must be considered with mechanics and esthetics as the cardinal factors contributing to the success of the dental prosthesis. The aim of this following procedure is to produce dentures that are mechanically functional, esthetically pleasing and permit normal speech.     

Oral Health-Related Quality of Life (OHQoL) among Adolescents Seeking Orthodontic Treatment

Aim: The aim of this study was to assess the effect of different orthodontic treatment needs on the OHQoL of adolescents. Materials and methods: 200 subjects (100 males and 100 females), 11 to 15 years of age were recruited for the study. OHQoL was assessed with the short form of the oral health impact profile (OHIP-14), and malocclusion severity was assessed with the index of orthodontic treatment need (IOTN). The Chi-square test was used to analyse the qualitative data. The level of significance was 0.05. Results: The more severe the malocclusion the worse was the impact on the OHQoL. Orthodontic treatment need had almost similar impact on the daily activities of both males and females. Pronunciation and taste was not significantly affected by the need for orthodontic treatment in either males or females. The proportions of orthodontic patients who found it uncomfortable to eat any food and had to interrupt their meals were significantly correlated with orthodontic treatment needs in both males and females. Conclusion: Orthodontic treatment need had an impact on OHQoL of adolescents with no significant difference between males and females. Clinical significance: Orthodontists should be aware of the impact caused by malocclusion and orthodontic treatment on the quality of life of the patients and should provide regular positive reinforcements to them. Keywords: Oral health-related qualtiy of life, Orthodontic treatment need, Malocclusion. How to cite this article: Manjith CM, Karnam SK, Manglam S, Praveen MN, Mathur A. Oral Health-Related Quality of Life (OHQoL) among Adolescents Seeking Orthodontic Treatment. J Contemp Dent Pract 2012;13(3):294-298. Source of support: Nil Conflict of interest: None declared.     

Ingestion of a carbonated beverage decreases lower esophageal sphincter pressure and increases frequency of transient lower esophageal sphincter relaxation in normal subjects

Transient lower esophageal sphincter relaxation (tLESR) and decreased basal lower esophageal sphincter (LES) pressure are postulated mechanisms of gastroesophageal reflux (GER). There is conflicting evidence on the effect of carbonated drinks on lower esophageal sphincter function. This study was conducted to assess the effect of a carbonated beverage on tLESR and LES pressure. High resolution manometry tracings (16 channel water-perfused, Trace 1.2, Hebbard, Australia) were obtained in 18 healthy volunteers (6 men) for 30 min each at baseline, and after 200 mL of chilled potable water and 200 mL of chilled carbonated cola drink (Pepsi [Pepsico India Ltd]). The sequence of administration of the drinks was determined by random number method generated by a computer. The analysis of tracings was done using TRACE 1.2 software by a physician who was unaware of the sequence of administration of fluids. The mean (SD) age of the participant was 37.3 (12.9) years. The median (range) frequency of tLESr was higher after the carbonated beverage (10.5 [0-26]) as compared to baseline (0 [0-3], p?=?0.005) as well as after water (1 [0-14], p?=?0.010). The LES pressure decreased after ingestion of the carbonated beverage (18.5 [11-37] mmHg) compared to baseline (40.5 [25-66] mmHg, p?=?0.0001) and after water (34 [15-67] mmHg, p?=?0.003). Gastric pressure was not different in the three groups. Ingestion of a carbonated beverage increases tLESr and lowers LES pressure in healthy subjects.