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SYNDROMIC OBESITY.
M Mavinkurve1, A-M Murphy2, R Isamotu1, S Lynch3, H Ahmed1, E F Roche1,2
1Paediatric Endocrinology, National Children's Hospital, AMNCH, Dublin, Ireland
2Paediatrics, Trinity College, Dublin, Ireland
3National Centre for Medical Genetics, Our Lady's Hospital for Children Crumlin, Dublin, Ireland
Aims
Childhood obesity is reaching epidemic proportions. Obesity may be primary (obesogenic environment), secondary (hormonal imbalance, drugs), monogenic (POMC) or be part of a complex phenotype-genetic obesity syndromes. It is important to distinguish between classifications. Our aim was to review our cohort of “obese” patients with this in mind.
Methods
Patients referred to our Paediatric endocrinology service specifically for management of obesity and who ultimately and unexpectedly turned out to have a syndromic cause were identified from our database. Their case notes were reviewed. Detailed histories and physical examination findings are reported. Parental consent was requested and clinical photographs obtained in all cases. A review of paediatric, endocrinology and genetics literature was conducted in order to develop guidelines for recognising and investigating children with potential genetic obesity syndromes.
Results
We elucidated an underlying genetic pathology in 6 patients referred to our tertiary paediatric endocrinology service over a 2 year period from primary and secondary care for management of “simple” or “exogenous obesity”. We recommend targeted genetic testing +/- liason with a clinical geneticist in patients with obesity in addition to learning difficulties, visual/hearing/ behavioural problems, dysmorphism/skeletal anomalies, marked short/tall stature/ abnormal head size or epilepsy.
Conclusion
Most obesity in Irish children is exogenous in nature. However, it is important to recognise children who may have a genetic cause for their obesity. There are many genetic obesity syndromes, the most frequently encountered being Prader-Willi, Bardet-Biedl and Alstrom’s syndromes. Management is generally symptomatic and multidisplinary rather than specific. Appropriate genetic counselling should be provided.
References:
1. Börjeson M, Forssman H, Lehmann O. An X-linked, recessively inherited syndrome characterized by grave mental deficiency, epilepsy and endocrine disorder. Acta Med Scand 1962;171:13-21. 2. Carter MT, Picketts DJ, Hunter AG, Graham GE. Further delineation of the Börjeson – Forssman – Lehmann Syndrome in Patients with PHF6 mutations. Am J Med Genet Part A 2009:149A: 246-250. 3. Turner G et al. The clinical picture of Börjeson–Forssman– Lehmann Syndrome in males and heterozygous females with PHF6 mutations. Clin Genet 2004:65:226-232. 4. Crawford J, Lower KM, Hennekam RCM, Van Esch H, Megarbane A, Lynch SA, Turner G, Gecz J. Mutation screening in Börjeson – Forssman – Lehmann Syndrome : identification of a novel de novo PHF6 mutation in a female patient. J Med Genet 2006;46:238-243. 5. 6.
PROGRESS IN REDUCING ROAD-RELATED DEATHS AND INJURIES IN IRISH CHILDREN
J Donnelly1, Y Bimpeh2, F Trace2, A Waters1, A Nicholson1, 3
1SpR, Children's University Hospital, Dublin, Ireland
2Research Section, Road Safety Authority, Dublin, Ireland
Methods : For pedestrian and car-related accidents where police assistance is required a CT 68 form is generated and sent to the National Roads Authority for analysis . Details re the severity of injury, light and road conditions and safety measures such as seat belt or car restraint use , seat position and helmet use if a cyclist were recorded. Injuries were sub-classified as fatalities , serious or minor. All data for the two time periods was entered onto an SPSS database.
A concerted national campaign re road safety media campaign allied to random breath testing , penalty points for driving offences , on the spot fines for speeding and greater police enforcement took place between the two time frames and continues to this day.
Results : From 1996-2000, of 5.928 road-related injuries , 153 were fatal , 712 were serious and the remainder were minor . From 2004-2008 , of a 3,659 total , 82 were fatal , 347 were serious and the remainder were minor . Car occupant fatalities dropped by 36% . The 13-15 year old age group had the highest mortality and morbidity in both cohorts. Pearson chi-squared tests confirmed a significant relationship between the use of an appropriate child restraint and the severity of injury (p < 0.001) . Serious Pedestrian injuries dropped by 50% pedestrian fatalities halved (61 down to 32. Cyclist injuries also dropped (607 down to 223) with a dramatic reduction in cyclist fatalities from 25 down to 6. Cyclist helmet use is still negligible .
Conclusions: A national road safety campaign , greater police enforcement and a cultural change has seen road –related injuries in children drop very significantly (by over 60%) over the two time periods and this campaign should continue
THE USE OF LOW FLOW NASAL PRONGS THERAPY IN WEANING NASAL CONTINUOUS POSITIVE AIRWAY PRESSURE (NCPAP) IN NEONATES. NOFLO TRIAL.
S O'Donnell1, S Curry1, N Buggy1, M Moynihan1, S Sebkova3, J Janota3, J Miletin1,2
1Neonatology, Coombe Women and Infants University Hospital, Dublin, Ireland
2Neonatology, Institute for the Care of Mother and Child, Prague, Czech Republic
3Neonatology, Thomayer University Hospital, Prague, Czech Republic
Background and Aims:
At present there is only anecdotal evidence to commence very low birth weight infants (less than 1500g - VLBWI) on low flow nasal prongs therapy (less than 2l/min) in room air when weaning from nCPAP. However this practice remains routine in many neonatal centres. The primary aim of the study was to determine if an improved outcome can be observed in using low flow nasal prongs therapy on weaning VLBWI from nCPAP.
Methods:
Multicentre randomised controlled parallel group trial. VLBWI receiving ventilatory support for minimum of 48 hours who were stable on nCPAP for 24 hours on minimal settings were eligible for enrollment. Exclusion criteria were associated congenital/respiratory/cardiac abnormality at the time of weaning from CPAP. The neonates were randomised into two groups. 1. Intervention group: use of low flow nasal prongs therapy for weaning from nCPAP. 2. Control group: self ventilation on weaning from nCPAP. Study duration and monitoring was for 5 consecutive days following randomisation
The sample size was based on the primary outcome measure: weaning failure rate. We have estimated this to be 50% in the control group. To detect an absolute difference of 30 % (80% power and alpha of 5%), 78 babies was needed. We used intent to treat analysis.
Results:
78 infants were randomised (39 each group). There were no statistically significant differences between the groups in weight and gestational age at birth and at randomisation. 27 infants (69%) in self ventilation group were successfully weaned versus 22 infants (56%) in nasal prongs therapy group. There was no statistically significant difference between the two groups in failure rate (OR 0.58, CI 0.20 to 1.60; p=0.35).
Conclusions:
Low flow nasal prongs used with room air do not offer any benefit over self ventilation when weaning from nCPAP.
ISRCTN02529072
PICTORIAL JOURNEY OF PAEDIATRIC PATIENTS WITH HEAD AND NECK HAEMANGIOMAS ON PROPANOLOL.
R ALI1, S LENNANE2, L KYNE3, H ROWLEY1
1OTOLARYNGOLOGY, CUH, DUBLIN, IRELAND
2DERMATOLOGY, CUH, DUBLIN, IRELAND
3PAEDIATRICS MEDICINE, CUH, DUBLIN , IRELAND
Introduction
Recent reports on the experience of propanolol use in the treatment of paediatric head and neck haemangiomas suggest favourable reasons for this use due to rapid improvement and its lack of severe side effects.
Patients and methods
Retrospective review of children with head and neck haemangiomas who were treated with propanolol as the main therapeutic option, seen in the paediatric airway service since 2008 was carried out.
Results
Eight patients were included in this observation. We described the clinical characteristics of these patients and studies carried out prior to starting treatment with propanolol, pre-treatment endoscopic findings, clinical evolution and incidences during treatment.
Conclusion
Propanolol use in the treatment of head and neck haemangiomas appear to show a high degree of efficiency in improving clinical symptoms without the disadvantage of severe side effects. Further studies are still required to confirm safety and results, but so far this drug appears to be an acceptable alternative in the treatment of head and neck haemangiomas.
TEACHING AND LEARNING ABOUT CHILD ABUSE: THE IMPACT OF AN ONLINE VIDEO-BASED VIRTUAL PATIENT MODULE ON STUDENT LEARNING
MM McEvoy1, B Butler2, A Nicholson1, G MacCarrick3
1Paediatrics, The Childrens University Hospital, Temple Street, Dublin, Ireland
2E-learning, Royal College of Surgeons in Ireland, Dublin, Ireland
3Medical Education, Royal College of Surgeons in Ireland, Dublin, Ireland
Aims: Child protection training is a particularly neglected area of undergraduate medical education. There is limited published data on the quantity or quality of medical student education in this area. The purpose of this study was to evaluate whether completion of an online interactive video-based module improved students’ knowledge about the recognition and management of suspected child abuse.
Methods: The Virtual Patient module consists of a series of interconnected video scenarios centred round a clinical case; the management of a 7 month old child with posterior rib fractures. Participating students completed a pre and post test MCQ and 5 point likert scale evaluation questionnaire. The results were analysed using SPSS.
Results: 181 students completed the entire module (response rate 79%). Although 34% of participants were Irish, there was a diverse range of nationalities represented. Only 21.5% (n=39) students had seen cases of suspected child abuse. There was a statistically significant increase in MCQ scores following completion of the module, z=-8.564, p ................
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