Pub Date : 2017-01-13DOI: 10.1136/archdischild-2016-311864
C. Oakley, S. Shebani
A baby girl was born at 36+3 weeks gestation by emergency caesarean section due to maternal unstable blood sugars and fetal distress. Her mother was an insulin-controlled diabetic but otherwise had a normal, low-risk pregnancy. She was born in a good condition and did not require any resuscitation at birth. However, she was noted soon after to have respiratory distress and was admitted to the neonatal unit. On admission, her saturations fluctuated between 90% and 95% with limited improvement with high-flow nasal cannula oxygen with moderate subcostal recessions. She had normal heart sounds, good volume femoral pulses and normal four-limb blood pressure. There was a 1 cm liver edge palpable. She was started on first-line antibiotics which were continued until negative cultures at 48 hours, and she tolerated weaning of her respiratory support. However, she then began to have intermittent desaturations to 60% and so respiratory support was re-escalated. The chest radiograph is shown in figure 1. Figure 1 Chest radiograph at initial presentation. 1. What does the …
{"title":"An uncommon diagnosis for a common neonatal presentation","authors":"C. Oakley, S. Shebani","doi":"10.1136/archdischild-2016-311864","DOIUrl":"https://doi.org/10.1136/archdischild-2016-311864","url":null,"abstract":"A baby girl was born at 36+3 weeks gestation by emergency caesarean section due to maternal unstable blood sugars and fetal distress. Her mother was an insulin-controlled diabetic but otherwise had a normal, low-risk pregnancy. She was born in a good condition and did not require any resuscitation at birth. However, she was noted soon after to have respiratory distress and was admitted to the neonatal unit. On admission, her saturations fluctuated between 90% and 95% with limited improvement with high-flow nasal cannula oxygen with moderate subcostal recessions. She had normal heart sounds, good volume femoral pulses and normal four-limb blood pressure. There was a 1 cm liver edge palpable.\u0000\u0000She was started on first-line antibiotics which were continued until negative cultures at 48 hours, and she tolerated weaning of her respiratory support. However, she then began to have intermittent desaturations to 60% and so respiratory support was re-escalated. The chest radiograph is shown in figure 1.\u0000\u0000\u0000\u0000Figure 1 \u0000Chest radiograph at initial presentation.\u0000\u0000\u0000\u00001. What does the …","PeriodicalId":8153,"journal":{"name":"Archives of Disease in Childhood: Education & Practice Edition","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2017-01-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"91476938","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2017-01-10DOI: 10.1136/archdischild-2016-310763
C. Elder, P. Dimitri
In February 2016, NHS England released a patient safety alert highlighting the associated mortality and morbidity when desmopressin is omitted in individuals with cranial diabetes insipidus (DI).1 Over a 7-year period, the UK National Reporting and Learning System had identified 76 near misses, 56 dosing errors leading to harm and 4 cases where desmopressin omission has resulted in severe dehydration and death.1 Gleeson et al ,2 concerned about the care of adult patients with DI when admitted to hospital, recently reported a retrospective audit in which desmopressin was missed or delayed in 88% of admissions in two-thirds of cases because medication was unavailable. Both publications raise awareness of the risks and call for improved education, easier access to desmopressin in the inpatient setting and heightened pharmacovigilance using increasingly popular e-prescribing to flag patients on desmopressin and alert endocrinologists to their admission.1 ,2 To our knowledge, there are no comparable data available in paediatrics, but the risks of children with DI not receiving the care they require is a concern. Paediatricians increasingly face complex children, on multiple, often unfamiliar, drugs, requiring management from generalists or intensivists when admitted out of hours who may not have immediate access to specialist paediatric endocrinology. To compound the issue, paediatric staff are often familiar with the more common indication for desmopressin, enuresis and therefore may not identify it as a critical medication, increasing the risk of omission. These patients are often on concomitant glucocorticoid replacement, which may complicate matters further. It is therefore timely to review situations when the generalist or intensivist may come into contact with patients with DI and to summarise management strategies and pitfalls to avoid. DI describes polyuria and polydipsia occurring due to an inability to concentrate urine. Central or cranial DI occurs when there is …
{"title":"Diabetes insipidus and the use of desmopressin in hospitalised children","authors":"C. Elder, P. Dimitri","doi":"10.1136/archdischild-2016-310763","DOIUrl":"https://doi.org/10.1136/archdischild-2016-310763","url":null,"abstract":"In February 2016, NHS England released a patient safety alert highlighting the associated mortality and morbidity when desmopressin is omitted in individuals with cranial diabetes insipidus (DI).1 Over a 7-year period, the UK National Reporting and Learning System had identified 76 near misses, 56 dosing errors leading to harm and 4 cases where desmopressin omission has resulted in severe dehydration and death.1 Gleeson et al ,2 concerned about the care of adult patients with DI when admitted to hospital, recently reported a retrospective audit in which desmopressin was missed or delayed in 88% of admissions in two-thirds of cases because medication was unavailable. Both publications raise awareness of the risks and call for improved education, easier access to desmopressin in the inpatient setting and heightened pharmacovigilance using increasingly popular e-prescribing to flag patients on desmopressin and alert endocrinologists to their admission.1 ,2\u0000\u0000To our knowledge, there are no comparable data available in paediatrics, but the risks of children with DI not receiving the care they require is a concern. Paediatricians increasingly face complex children, on multiple, often unfamiliar, drugs, requiring management from generalists or intensivists when admitted out of hours who may not have immediate access to specialist paediatric endocrinology. To compound the issue, paediatric staff are often familiar with the more common indication for desmopressin, enuresis and therefore may not identify it as a critical medication, increasing the risk of omission. These patients are often on concomitant glucocorticoid replacement, which may complicate matters further.\u0000\u0000It is therefore timely to review situations when the generalist or intensivist may come into contact with patients with DI and to summarise management strategies and pitfalls to avoid.\u0000\u0000DI describes polyuria and polydipsia occurring due to an inability to concentrate urine. Central or cranial DI occurs when there is …","PeriodicalId":8153,"journal":{"name":"Archives of Disease in Childhood: Education & Practice Edition","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2017-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75815264","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2017-01-10DOI: 10.1136/archdischild-2016-311078
Harpreet Singh Mangat, Chirag V. Patel, D. Rodrigues
Cerebrospinal fluid diversion procedures have saved more lives than any other neurosurgical procedure. However, they do have a unique set of complications which a paediatrician in a district general hospital may encounter. Timely recognition and appropriate referral to the neurosurgeon is vital in order to avoid serious consequences and to have a favourable outcome.
{"title":"Fifteen-minute consultation: assessment of a child with suspected shunt problems","authors":"Harpreet Singh Mangat, Chirag V. Patel, D. Rodrigues","doi":"10.1136/archdischild-2016-311078","DOIUrl":"https://doi.org/10.1136/archdischild-2016-311078","url":null,"abstract":"Cerebrospinal fluid diversion procedures have saved more lives than any other neurosurgical procedure. However, they do have a unique set of complications which a paediatrician in a district general hospital may encounter. Timely recognition and appropriate referral to the neurosurgeon is vital in order to avoid serious consequences and to have a favourable outcome.","PeriodicalId":8153,"journal":{"name":"Archives of Disease in Childhood: Education & Practice Edition","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2017-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89425472","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2016-12-30DOI: 10.1136/archdischild-2016-312289
Y. Moore, A. Iqbal
Aim: Medication labels use various measurement units that may differ from the units on tools used to measure doses. The study compared combinations of units and tools to see which reduced errors. Design: Randomised control trial. Caregivers randomly allocated to one of five groups. Groups differed in the pairing of units used on medication label and units of dosing tool. Intervention: All caregivers were asked to measure three liquid doses, as instructed on label, using three different dosing tools. Allocation: Random number generator, blocked by site, in sets of 100 (20 per group) used to randomise caregivers to groups. Blinding: Neither assessors nor caregivers blinded after assignment. Setting: Three paediatric outpatient clinics across USA. Participants: Parents or legal guardians of children aged ≤8 years who presented …
{"title":"Oral syringes with millilitre measurements are safer than dosing cups for administration of medication for children","authors":"Y. Moore, A. Iqbal","doi":"10.1136/archdischild-2016-312289","DOIUrl":"https://doi.org/10.1136/archdischild-2016-312289","url":null,"abstract":"Aim: Medication labels use various measurement units that may differ from the units on tools used to measure doses. The study compared combinations of units and tools to see which reduced errors.\u0000\u0000Design: Randomised control trial. Caregivers randomly allocated to one of five groups. Groups differed in the pairing of units used on medication label and units of dosing tool.\u0000\u0000Intervention: All caregivers were asked to measure three liquid doses, as instructed on label, using three different dosing tools.\u0000\u0000Allocation: Random number generator, blocked by site, in sets of 100 (20 per group) used to randomise caregivers to groups.\u0000\u0000Blinding: Neither assessors nor caregivers blinded after assignment.\u0000\u0000Setting: Three paediatric outpatient clinics across USA.\u0000\u0000Participants: Parents or legal guardians of children aged ≤8 years who presented …","PeriodicalId":8153,"journal":{"name":"Archives of Disease in Childhood: Education & Practice Edition","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2016-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78637202","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2016-12-20DOI: 10.1136/archdischild-2016-311803
W. Whitehouse, S. Agrawal
Headache is very common in children and young people. The correct advice and treatment requires consideration of a wide differential diagnosis between primary and secondary headaches, and also of the different types of primary headache. The International Classification of Headache Disorders gives useful descriptions and diagnostic criteria that are especially useful for primary headaches. The National Institute for Health and Care Excellence (NICE) Clinical Guideline 150 provides evidence-based recommendations on treatments for adults and young people from age 12 years. However, the same principles can be applied to younger children when a specific diagnosis can be made. Key recommendations from the NICE Quality Standards include, establishing a precise diagnosis if possible, avoiding, diagnosing and treating medication overuse headache, and combining a triptan with a non-steroidal anti-inflammatory drug or paracetamol as the first-line acute/rescue treatment for migraine with or without aura. Although rare in children and young people, it is important to diagnose new daily persistent headache, as it responds poorly or not at all to medication; and paroxysmal hemicrania as it responds very well to indomethacin but not to other commonly used analgesics. When faced with difficulties in reaching a precise diagnosis or in finding effective therapies, further advice should be sought from a children's headache clinic or specialist.
{"title":"Management of children and young people with headache","authors":"W. Whitehouse, S. Agrawal","doi":"10.1136/archdischild-2016-311803","DOIUrl":"https://doi.org/10.1136/archdischild-2016-311803","url":null,"abstract":"Headache is very common in children and young people. The correct advice and treatment requires consideration of a wide differential diagnosis between primary and secondary headaches, and also of the different types of primary headache. The International Classification of Headache Disorders gives useful descriptions and diagnostic criteria that are especially useful for primary headaches. The National Institute for Health and Care Excellence (NICE) Clinical Guideline 150 provides evidence-based recommendations on treatments for adults and young people from age 12 years. However, the same principles can be applied to younger children when a specific diagnosis can be made. Key recommendations from the NICE Quality Standards include, establishing a precise diagnosis if possible, avoiding, diagnosing and treating medication overuse headache, and combining a triptan with a non-steroidal anti-inflammatory drug or paracetamol as the first-line acute/rescue treatment for migraine with or without aura. Although rare in children and young people, it is important to diagnose new daily persistent headache, as it responds poorly or not at all to medication; and paroxysmal hemicrania as it responds very well to indomethacin but not to other commonly used analgesics. When faced with difficulties in reaching a precise diagnosis or in finding effective therapies, further advice should be sought from a children's headache clinic or specialist.","PeriodicalId":8153,"journal":{"name":"Archives of Disease in Childhood: Education & Practice Edition","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2016-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72760791","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2016-12-16DOI: 10.1136/archdischild-2016-311416
David A King, N. West, C. Elder
The teaching and training of doctors-in-training in paediatrics has become increasingly challenging in recent times. All too often there is a perception that training must come second to service provision. In this article, the case of a child with community-acquired pneumonia is considered and used to illustrate how a culture of teaching can be embedded in everyday clinical practice.
{"title":"Integrating teaching into everyday clinical practice","authors":"David A King, N. West, C. Elder","doi":"10.1136/archdischild-2016-311416","DOIUrl":"https://doi.org/10.1136/archdischild-2016-311416","url":null,"abstract":"The teaching and training of doctors-in-training in paediatrics has become increasingly challenging in recent times. All too often there is a perception that training must come second to service provision. In this article, the case of a child with community-acquired pneumonia is considered and used to illustrate how a culture of teaching can be embedded in everyday clinical practice.","PeriodicalId":8153,"journal":{"name":"Archives of Disease in Childhood: Education & Practice Edition","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2016-12-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83413152","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2016-12-14DOI: 10.1136/archdischild-2016-310870
L. Turnbull, C. Bell, F. Child
The UK has one of the highest rates of tuberculosis (TB) in Western Europe.1 If current trends continue, with over 7500 cases per year,2 England will overtake the whole of the USA in the annual number of TB notifications within the next 2 years.3 TB disease in UK children is relatively rare with <5% cases affecting patients under the age of 15 years.2 Outside large conurbations, most paediatricians will see very few children with TB. However, the risk of progression from latent TB to TB disease and of TB meningitis or miliary TB is much higher in children, especially those under the age of 2 years.4 It is, therefore, important that paediatricians recognise children at risk of TB disease and the symptoms and signs with which they present. This article summarises the recently updated National Institute for Health and Care Excellence (NICE) guideline ‘Tuberculosis’ (NG33)5 ,6 published in 2016 (box 1). Several areas of this guideline are controversial and we will highlight these. Box 1 ### Resources National Institute for Health and Care Excellence (NICE) guideline—NG33 Tuberculosis https://www.nice.org.uk/guidance/NG33 Collaborative TB Strategy, Public Health England https://www.gov.uk/government/publications/collaborative-tuberculosis-strategy-for-england Information for the public (NICE) https://www.nice.org.uk/guidance/ng33/ifp/chapter/Tuberculosis Key recommendations in the updated guideline: Box 2 ### Glossary of terms Mycobacterium tuberculosis complex (MTB complex)—A genetically related group of mycobacteria that can cause TB disease in …
{"title":"Tuberculosis (NICE clinical guideline 33)","authors":"L. Turnbull, C. Bell, F. Child","doi":"10.1136/archdischild-2016-310870","DOIUrl":"https://doi.org/10.1136/archdischild-2016-310870","url":null,"abstract":"The UK has one of the highest rates of tuberculosis (TB) in Western Europe.1 If current trends continue, with over 7500 cases per year,2 England will overtake the whole of the USA in the annual number of TB notifications within the next 2 years.3 TB disease in UK children is relatively rare with <5% cases affecting patients under the age of 15 years.2 Outside large conurbations, most paediatricians will see very few children with TB. However, the risk of progression from latent TB to TB disease and of TB meningitis or miliary TB is much higher in children, especially those under the age of 2 years.4 It is, therefore, important that paediatricians recognise children at risk of TB disease and the symptoms and signs with which they present.\u0000\u0000This article summarises the recently updated National Institute for Health and Care Excellence (NICE) guideline ‘Tuberculosis’ (NG33)5 ,6 published in 2016 (box 1). Several areas of this guideline are controversial and we will highlight these. Box 1 \u0000### Resources\u0000\u0000National Institute for Health and Care Excellence (NICE) guideline—NG33 Tuberculosis\u0000\u0000https://www.nice.org.uk/guidance/NG33\u0000\u0000Collaborative TB Strategy, Public Health England https://www.gov.uk/government/publications/collaborative-tuberculosis-strategy-for-england\u0000\u0000Information for the public (NICE)\u0000\u0000https://www.nice.org.uk/guidance/ng33/ifp/chapter/Tuberculosis\u0000\u0000Key recommendations in the updated guideline: \u0000\u0000Box 2 \u0000### Glossary of terms\u0000\u0000Mycobacterium tuberculosis complex (MTB complex)—A genetically related group of mycobacteria that can cause TB disease in …","PeriodicalId":8153,"journal":{"name":"Archives of Disease in Childhood: Education & Practice Edition","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2016-12-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79555690","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2016-12-14DOI: 10.1136/archdischild-2016-312326
A. Lucas-Herald, K. Robertson
Design: Placebo-controlled randomised controlled trial. Allocation: Via computer generated sequence. Blinding: Double-blind. Setting: 26 paediatric endocrinology clinics in the Type 1 Diabetes Exchange Clinic Network between 2013 and 2014. Patients: 140 adolescents aged between 12.1 and 19.6 years (mean (SD) 15.3 (1.7)) with type 1 diabetes for >1 year and a body mass index >85th centile for age, total daily insulin dose >0.8 units/kg and three times daily self-monitoring of blood glucose. Intervention : 2000 mg daily dose metformin compared with placebo. Outcomes : Primary outcome: change in haemoglobin A1c (HbA1c) from baseline to 26 weeks. Prespecified secondary outcomes: total daily dose (TDD) insulin per kg body weight, total basal insulin per kg body weight, anthropometry, blood pressure, metabolic profile. Follow-up period …
{"title":"Metformin with insulin does not improve the glycaemic control of overweight/obese adolescents with type 1 diabetes","authors":"A. Lucas-Herald, K. Robertson","doi":"10.1136/archdischild-2016-312326","DOIUrl":"https://doi.org/10.1136/archdischild-2016-312326","url":null,"abstract":"Design: Placebo-controlled randomised controlled trial.\u0000\u0000Allocation: Via computer generated sequence.\u0000\u0000Blinding: Double-blind.\u0000\u0000Setting: 26 paediatric endocrinology clinics in the Type 1 Diabetes Exchange Clinic Network between 2013 and 2014.\u0000\u0000Patients: 140 adolescents aged between 12.1 and 19.6 years (mean (SD) 15.3 (1.7)) with type 1 diabetes for >1 year and a body mass index >85th centile for age, total daily insulin dose >0.8 units/kg and three times daily self-monitoring of blood glucose.\u0000\u0000Intervention : 2000 mg daily dose metformin compared with placebo.\u0000\u0000Outcomes : Primary outcome: change in haemoglobin A1c (HbA1c) from baseline to 26 weeks. Prespecified secondary outcomes: total daily dose (TDD) insulin per kg body weight, total basal insulin per kg body weight, anthropometry, blood pressure, metabolic profile.\u0000\u0000Follow-up period …","PeriodicalId":8153,"journal":{"name":"Archives of Disease in Childhood: Education & Practice Edition","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2016-12-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90498871","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2016-12-09DOI: 10.1136/archdischild-2016-311029
Blanche Griffin, L. Chitty, M. Bitner-Glindzicz
The 100 000 Genomes Project is a unique, national programme combining research and transformation of clinical care, by undertaking whole genome sequencing (WGS) in patients with rare diseases and cancer. Made possible by technological advances in next-generation sequencing1 and falling costs, this project aims to find the genes which cause a patient's rare disease and identify genetic changes which occur in the tumour of a child or adult with cancer, to understand the mechanism of disease and develop therapies to personalise treatment. Patients are recruited through the National Health Service (NHS) and their medical course is tracked for life through their NHS number with results fed back through routine NHS services. It will also lay the foundations for a new ‘genomic medicine’ service for the NHS.2 The project is coordinated by Genomics England, with participants enrolled through one of 13 NHS Genomic Medicine Centres (figure 1), covering all of England. Unlike genome projects in other countries3 that have yielded information on variants associated with common diseases and ancestry, the scale of the 100 000 Genomes Project is much greater. The ability to track long-term outcomes through the patients' NHS number provides a unique opportunity to link genomic and phenotypic data to hospital admissions (via hospital episode statistics) as well as lifelong response to interventions and treatments. Figure 1 Schema showing pathway from patient recruitment to results. Note the need for interaction between clinicians, scientists and geneticists working in multidisciplinary teams to deliver this new genomic medicine service. More detailed information can be found on the Genomics England website.2 GMC, Genomics Medicine Centre; GeL, Genomics England; MDT, multidisciplinary team meeting including clinical scientists, clinical geneticists and referring clinicians). Many children with a rare disease but no known underlying cause are eligible. A local clinical geneticist …
{"title":"The 100 000 Genomes Project: What it means for paediatrics","authors":"Blanche Griffin, L. Chitty, M. Bitner-Glindzicz","doi":"10.1136/archdischild-2016-311029","DOIUrl":"https://doi.org/10.1136/archdischild-2016-311029","url":null,"abstract":"The 100 000 Genomes Project is a unique, national programme combining research and transformation of clinical care, by undertaking whole genome sequencing (WGS) in patients with rare diseases and cancer. Made possible by technological advances in next-generation sequencing1 and falling costs, this project aims to find the genes which cause a patient's rare disease and identify genetic changes which occur in the tumour of a child or adult with cancer, to understand the mechanism of disease and develop therapies to personalise treatment. Patients are recruited through the National Health Service (NHS) and their medical course is tracked for life through their NHS number with results fed back through routine NHS services. It will also lay the foundations for a new ‘genomic medicine’ service for the NHS.2 The project is coordinated by Genomics England, with participants enrolled through one of 13 NHS Genomic Medicine Centres (figure 1), covering all of England. Unlike genome projects in other countries3 that have yielded information on variants associated with common diseases and ancestry, the scale of the 100 000 Genomes Project is much greater. The ability to track long-term outcomes through the patients' NHS number provides a unique opportunity to link genomic and phenotypic data to hospital admissions (via hospital episode statistics) as well as lifelong response to interventions and treatments.\u0000\u0000\u0000\u0000Figure 1 \u0000Schema showing pathway from patient recruitment to results. Note the need for interaction between clinicians, scientists and geneticists working in multidisciplinary teams to deliver this new genomic medicine service. More detailed information can be found on the Genomics England website.2 GMC, Genomics Medicine Centre; GeL, Genomics England; MDT, multidisciplinary team meeting including clinical scientists, clinical geneticists and referring clinicians).\u0000\u0000\u0000\u0000Many children with a rare disease but no known underlying cause are eligible. A local clinical geneticist …","PeriodicalId":8153,"journal":{"name":"Archives of Disease in Childhood: Education & Practice Edition","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2016-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73137823","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2016-12-08DOI: 10.1136/archdischild-2016-311286
E. Hoskison, J. Grainger
Stridor is an abnormal sound caused by turbulent airflow through the airway. In an infant under 3 months of age presenting with stridor, there are many different underlying aetiologies. Some key assessment points help to differentiate those patients who can be reassured and monitored versus those requiring referral to an ear, nose and throat (ENT) surgeon for further assessment or management. We present a structured approach to guide the clinician through initial assessment, examination and management, including referral to ENT surgery.
{"title":"Fifteen-minute consultation: investigation and management of an infant with stridor","authors":"E. Hoskison, J. Grainger","doi":"10.1136/archdischild-2016-311286","DOIUrl":"https://doi.org/10.1136/archdischild-2016-311286","url":null,"abstract":"Stridor is an abnormal sound caused by turbulent airflow through the airway. In an infant under 3 months of age presenting with stridor, there are many different underlying aetiologies. Some key assessment points help to differentiate those patients who can be reassured and monitored versus those requiring referral to an ear, nose and throat (ENT) surgeon for further assessment or management. We present a structured approach to guide the clinician through initial assessment, examination and management, including referral to ENT surgery.","PeriodicalId":8153,"journal":{"name":"Archives of Disease in Childhood: Education & Practice Edition","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2016-12-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78749059","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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