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Medium-chain acyl-CoA dehydrogenase deficiency

Paediatrics and Child Health - Wed, 02/13/2019 - 00:00
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is an autosomal recessive disorder of fatty acid oxidation with an incidence in the UK of more than 1:10,000. The majority of patients are homozygous for a missense mutation c.985A > G. Newborn screening for this condition was implemented in England and Northern Ireland in 2009 in Scotland in 2010 and in Wales in 2012. Patients with MCADD are at risk during periods of fasting stress, particularly during intercurrent infections, of developing an encephalopathy associated with hypoketotic hypoglycaemia.
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Acne in childhood

Paediatrics and Child Health - Wed, 02/13/2019 - 00:00
Acne is a common, chronic inflammatory disease of the skin. While it is primarily a skin disorder of adolescence, acne also occurs, less commonly, in children who have not yet reached puberty. This specific group of acne patients can be categorised into four categories, based on the time of onset; neonatal, infantile, mid-childhood and pre-pubertal acne. The presentation of acne in this younger population may be associated with systemic pathologies different from those in adolescent acne. Clinical assessment should focus on securing symptoms and signs of virilisation and early referral to a paediatric endocrinologist should be considered if these are identified.
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Modulator therapies for cystic fibrosis

Paediatrics and Child Health - Tue, 02/12/2019 - 00:00
Cystic fibrosis (CF) is a life-limiting genetic disease that arises from defects in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and protein. This causes abnormal epithelial ion transport. CF is a multisystem condition but airway infection and inflammation carry the greatest treatment burden and are the predominant cause of morbidity and mortality. Novel therapeutic strategies have recently been developed to target specific molecular defects arising from CFTR mutations. These CFTR modulator therapies are designed to correct the underlying protein processing defect or to potentiate CFTR function to improve ion transport.
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The role of the physiotherapist in paediatric respiratory medicine

Paediatrics and Child Health - Fri, 02/08/2019 - 00:00
Many children seen under the umbrella of respiratory medicine benefit from physiotherapy. Physiotherapists bring a wide range of skills in the clinical management of this group of patients. These roles include secretion or airway clearance, breathing re-education, inhaled therapy, education for respiratory health, postural and musculoskeletal management, exercise prescription, support with weaning ventilation and admission prevention. Within this article we aim to explore some of the key roles physiotherapists undertake.
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Fifteen-minute consultation: Recognising primary immune deficiencies in children

Per Wekell
Feb 7, 2019; 0:archdischild-2018-315484v1-edpract-2018-315484
BEST PRACTICE AND FIFTEEN-MINUTE CONSULTATIONS
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Pollen food syndrome

Paediatrics and Child Health - Thu, 02/07/2019 - 00:00
Pollen food syndrome (PFS) is a description of oral allergy symptoms on exposure to particular foods that are closely related to the primary sensitising pollen allergen. PFS is a common phenomenon relating to certain protein component groups (profilin, PR10 and LTP). It is often overlooked, particularly in children. Symptoms usually occur after the onset of allergic rhinitis or sensitisation to aeroallergens. Clinical history is vital with allergy tests (Skin prick tests, IgE and IgE component resolved diagnostics) being a supplementary tool to assist diagnosis.
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‘Ammonia, lactate and blood gases – A user's guide’

Paediatrics and Child Health - Wed, 02/06/2019 - 00:00
Basic biochemical tests are frequently obtained in acutely unwell neonates and children, as well as in some elective situations. Correct interpretation can be invaluable in identifying rare inherited primary metabolic disorders, but secondary causes of hyperammonaemia, elevated blood lactate or blood gas derangement are more common and require appropriate treatment of the underlying cause. This Personal Practice guide provides an overview of these tests and their interpretation.
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Assessing skin disease in children

Paediatrics and Child Health - Tue, 02/05/2019 - 00:00
Skin disease in children is a common presentation in both primary and secondary care. A focused history and examination in addition to appropriate investigations are key to reaching the correct diagnosis. This article addresses fundamental components of the assessment of children with skin disease, providing examples of common and important conditions.
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Pigmented lesions: when should I worry?

Paediatrics and Child Health - Mon, 02/04/2019 - 00:00
Pigmented lesions in children are very common. The majority are benign melanocytic naevi that develop during childhood but, rarely, sinister lesions such as melanoma and atypical Spitz naevi can also occur. The group of benign pigmented lesions includes benign acquired and congenital melanocytic naevi, blue naevi, halo naevi and Spitz naevi. This article will enable clinicians to be aware of the concerning features, use the ABCDE criteria appropriately, understand how to use the available diagnostic tools and when to refer to a Paediatric Dermatology department for further opinion and management.
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Protracted bacterial bronchitis

Paediatrics and Child Health - Sat, 02/02/2019 - 00:00
PBB is the commonest cause of chronic wet cough in young children and should be considered in all those without specific cough markers. The disease course in PBB can by uncomplicated with two weeks of antibiotics resulting in cough resolution with no relapse. It is important to identify the endotypes associated with co-morbidities or future complications as they may require further investigation and/or treatment. These include PBB-extended, recurrent PBB and those with a wet cough unresponsive to 4 weeks of antibiotics.
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Antibiotic prescribing for upper respiratory tract infections: NICE guidelines

Nee Na Kim
Feb 1, 2019; 0:archdischild-2018-316159v1-edpract-2018-316159
GUIDELINE REVIEW
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Editorial Board

Paediatrics and Child Health - Fri, 02/01/2019 - 00:00
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Self-assessment

Paediatrics and Child Health - Fri, 02/01/2019 - 00:00
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Associations Between Maternal Caregiving and Child Indicators of Toxic Stress Among Multiethnic, Urban Families

Journal of Pediatric Health Care - Wed, 01/23/2019 - 00:00
Our purpose was to examine associations between maternal caregiving and child indicators of toxic stress among multiethnic, urban families with children of early school age.
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Challenges in the Treatment of Iron Deficiency Anemia in a Child With Autism Spectrum Disorder: A Case Study

Journal of Pediatric Health Care - Wed, 01/23/2019 - 00:00
Children with autism spectrum disorder (ASD) face many challenges, including feeding problems due to behavioral issues and food aversions. Therefore, pediatric nurse practitioners need to assess for different mineral deficiencies, including iron deficiency anemia (IDA). The following case study describes a 4-year-old with ASD with persistent IDA despite typical recommendation of oral iron supplementation. Other potential etiologies of IDA are reviewed. Finally, different management approaches for managing IDA in children with ASD are described.
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A Job Task Analysis of the Expanding Role of the Pediatric Mental Health Specialist and the Nurse Practitioner in Pediatric Mental Health

Journal of Pediatric Health Care - Wed, 01/23/2019 - 00:00
Lack of access to support, services, and providers for children and adolescents with mental health conditions is a serious problem in the United States. Fewer than half of the children who need services obtain them. To meet this demand, the Pediatric Nursing Certification Board launched a new specialty certification in 2011 for advanced practice registered nurses called the pediatric primary care mental health specialist (PMHS). In 2016, a job task analysis of the role of the PMHS and nurse practitioners practicing in pediatric mental health and developmental/behavioral pediatrics was conducted.
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Patient-Delivered Expedited Partner Therapy for Chlamydia trachomatis Infection Among Female Adolescents Using School-Based Health Centers

Journal of Pediatric Health Care - Wed, 01/23/2019 - 00:00
Expedited partner therapy (EPT) may reduce Chlamydia trachomatis reinfection. This pilot study was conducted to determine if female adolescents with C. trachomatis accept and deliver EPT to male sexual partners and whether it is associated with decreased C. trachomatis reinfection rates at 3 and 6 months.
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How to use saturation monitoring in newborns

Steven McVea
Jan 18, 2019; 104:35-42
Interpretations
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