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Mashup Score: 0Skeletal abnormalities and a low alkaline phosphatase - 6 day(s) ago
An infant was born at 38+5 weeks of gestation via elective caesarean section due to concerns regarding a possible antenatal diagnosis of osteogenesis imperfecta type 3. Antenatal skeletal abnormalities included poor bone mineralisation and multiple intrauterine fractures. Her initial biochemistry demonstrated: alkaline phosphatase (ALP): 17 U/L (83–248) with a normal adjusted calcium, phosphate, magnesium, parathyroid hormone and vitamin D. Her initial skeletal survey was grossly abnormal. She was discharged with a guarded prognosis. At 6 months of life she presented unwell with vomiting, constipation and irritability, she was hypotonic. Her blood tests were repeated and demonstrated ALP: 12 U/L (122–469), adjusted calcium: 3.53 mmol/L (2.2–2.6), phosphate: 1.88 mmol/L (1.47–2.54). Figure 1 is an image from her skeletal survey at the time. Figure 1 An image from her skeletal survey showing bowing of both femora and tibiae, multiple healing fractures and demineralisation of her skeleton
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Mashup Score: 7
Preterm birth is the biggest cause of infant mortality and morbidity in the UK.1 Evidence has shown that optimal cord management (OCM), defined here as deferring cord clamping for at least 60 s following delivery, can reduce the risk of death in preterm babies by nearly one-third, reduce the need for blood transfusion by 10% and encourage haemodynamic stability, therefore reducing the need for inotropic support following delivery.2–4 OCM is a British Association of Perinatal Medicine quality standard, recorded as part of the National Neonatal Audit Programme (NNAP) and is an essential part of perinatal optimisation now included in the Newborn Life Support course.5–7 NNAP data published for 2021 identified our neonatal intensive care unit (NICU) as a national outlier for OCM. Only 20% of infants born<34 weeks gestation received a minimum 60 s deferred cord clamping, well below the national average of 43%.8 To improve deferred cord clamping rates from 20% to 80% and embed OCM as the stan
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Mashup Score: 13
A thyroid function test (TFT) is a common investigation, often undertaken by general paediatricians and general practitioners. TFT involves the measurement of serum free thyroxine (fT4) and thyroid stimulating hormone (TSH) to guide the diagnosis and management of hypothyroidism and hyperthyroidism, requiring treatment with medications such as levothyroxine (LT4) and carbimazole. Thyroid hormones play a crucial role in early life neurodevelopment; therefore, the correct interpretation of TFT is required to optimise treatment outcomes. TFT needs to be contextualised to influencing factors such as intercurrent illness, diet, presence of obesity, assay interference and non-adherence to treatment.
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Mashup Score: 11
(21 November, 2024) Free Neelam Gupta (27 June, 2024) Arvind Nagra, Isabella Darshani Fuller, Gary Connett, Ben C Reynolds, Kay Tyerman, Dean Wallace, Evgenia Preka, Kirsten Armstrong, Neeta Patel, Sarah Shameti, James Edelman, Rosemary Dempsey, Caroline Elizabeth Anderson, Rodney Gilbert, Mushfequr R Haq, Matthew Harmer, Yincent Tse (21 March, 2024) Beatrice Lorenzon, Francesca Burlo, Ludovica Barbi, Gianluca Tamaro, Gianluca Tornese (9 April, 2024) Helen Thomas, Daniel Cromb, Hannah Jacob, Anastasia
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Mashup Score: 8
(21 November, 2024) Free Neelam Gupta (27 June, 2024) Arvind Nagra, Isabella Darshani Fuller, Gary Connett, Ben C Reynolds, Kay Tyerman, Dean Wallace, Evgenia Preka, Kirsten Armstrong, Neeta Patel, Sarah Shameti, James Edelman, Rosemary Dempsey, Caroline Elizabeth Anderson, Rodney Gilbert, Mushfequr R Haq, Matthew Harmer, Yincent Tse (21 March, 2024) Beatrice Lorenzon, Francesca Burlo, Ludovica Barbi, Gianluca Tamaro, Gianluca Tornese (9 April, 2024) Helen Thomas, Daniel Cromb, Hannah Jacob, Anastasia
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Mashup Score: 27Approach to neonatal thrombocytopenia - 1 month(s) ago
A low platelet count (thrombocytopenia) is a common finding especially in neonates who are admitted to the neonatal intensive care unit. Due to the varied causes that can lead to neonatal thrombocytopenia, assessment and management can be challenging. Having an understanding of the causes of neonatal thrombocytopenia and their natural progression would help guide subsequent management. Therefore, we will be exploring the different circumstances where thrombocytopenia occurs and how to interpret and manage the neonate with thrombocytopenia in this interpretations article.
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Mashup Score: 5Lump in my side: transplanted kidney or something more? - 1 month(s) ago
A 16-year-old girl with a background of systemic lupus erythematosus (SLE) and resultant end-stage kidney disease (ESKD) presents 1 month post deceased donor kidney transplantation with fever, abdominal pain, back pain and arthralgias. Her temperature was 39.3°C, heart rate 100 bpm and blood pressure 116/65 mm Hg. Her abdomen was soft with normal bowel sounds but had tenderness in her right lower quadrant on deep palpation overlying her allograft site. The rest of her examination was unremarkable. Initial investigations revealed a new normocytic normochromic anaemia (haemoglobin: 95 g/L), acute kidney injury (serum creatinine increased to 82 umol/L from a baseline of 50–60 umol/L) and elevated C-reactive protein (58.6 mg/L). A transplant kidney ultrasound (figure 1) was performed, showing a new lateral perinephric complex cystic fluid collection. An abdominal MRI (figure 2) was done, showing a lateral septated cystic lesion (2.4×4.2×3.6 cm) and an anteromedial ill-defined heterogeneous
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Mashup Score: 21Fifteen-minute consultation: How to manage neonatal bradycardia - 1 month(s) ago
Neonatal bradycardia is characterised by a heart rate below 80 bpm, irrespective of gestational age. It is generally self-resolving but, in some cases, represents an underlying pathology which may be cardiac or non-cardiac in origin. The common causes for bradycardia are non-cardiac in origin such as autonomic immaturity in premature infants, electrolyte imbalances, hypothyroidism and medications. Cardiac causes include—sinus bradycardia, conduction system abnormalities, congenital heart disease and channelopathies. Diagnostic investigations typically include a standard 12-lead ECG, 24-hour Holter monitor and an echocardiogram. This article aims to provide a practical framework for the management of neonates with bradycardia and guide further investigation and/or referral to specialist paediatric cardiology services.
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Mashup Score: 11A toddler with fever and coryzal symptoms - 1 month(s) ago
A 3-year-old female was admitted for 2 days of fever and coryzal symptoms. She had three previous episodes of upper respiratory tract infection but no known immunodeficiency or history of aspiration. Immunisation was up to date. On admission, she was stable in room air, active and spoke complete sentences. Nasopharyngeal swab revealed adenovirus. In addition to her persistent fever, she became increasingly breathless. A contrast CT scan of the thorax revealed gross left parapneumonic effusion with left upper lobe cavitation (figures 1 and 2), so a pigtail catheter was inserted for drainage of the effusion. Empirical broad-spectrum antibiotics were initiated to cover for any secondary bacterial infection since C-reactive protein and procalcitonin values rose drastically, although initial cultures were negative. She continued to deteriorate and required continuous positive airway pressure support; blood gas confirmed type 1 respiratory failure. She was then intubated and transferred to t
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Mashup Score: 24Fifteen-minute consultation: Management of raised intracranial pressure in children - 2 month(s) ago
Raised intracranial pressure (ICP) in children can be very challenging to recognise and manage. In order to minimise secondary brain injury, measures to reduce intracranial pressure must be initiated as soon as possible. Initial management is often commenced in District General Hospitals prior to transfer for definitive treatment. This article is aimed at general paediatricians and provides a framework for the initial stabilisation and management of a child with raised ICP, with discussion of the underlying physiological principles.
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Skeletal abnormalities and low alkaline phosphatase What's your diagnosis? (Parental consent obtained) https://t.co/cMGRAuChZ0 https://t.co/sJghUczMAr