• Vaccinating Adolescents and Children Significantly Reduces COVID-19 Morbidity and Mortality across All Ages: A Population-Based Modeling Study Using the UK as an Example 

  Shiri, T.; Evans, M.; Talarico, C. A.; Morgan, A. R.; Mussad, M.; Buck, P. O.; McEwan, P.; Strain, W. D. (MDPI, 2021-10-15)

  Debate persists around the risk-benefit balance of vaccinating adolescents and children against COVID-19. Central to this debate is quantifying the contribution of adolescents and children to the transmission of SARS-CoV-2, ...

• Systematic genetic testing for recessively inherited monogenic diabetes: a cross-sectional study in paediatric diabetes clinics 

  Patel, K. A.; Ozbek, M. N.; Yildiz, M.; Guran, T.; Kocyigit, C.; Acar, S.; Siklar, Z.; Atar, M.; Colclough, K.; Houghton, J.; Johnson, M. B.; Ellard, S.; Flanagan, S. E.; Cizmecioglu, F.; Berberoglu, M.; Demir, K.; Catli, G.; Bas, S.; Akcay, T.; Demirbilek, H.; Weedon, M. N.; Hattersley, A. T. (Springer, 2021-10-23)

  AIMS/HYPOTHESIS: Current clinical guidelines for childhood-onset monogenic diabetes outside infancy are mainly focused on identifying and testing for dominantly inherited, predominantly MODY genes. There are no systematic ...

• The effect of kinesiophobia on functional outcomes following anterior cruciate ligament reconstruction surgery: an integrated literature review 

  Marok, E.; Soundy, A. (Taylor & Francis, 2021-11-25)

  PURPOSE: Evaluate the effect of kinesiophobia on functional outcomes following anterior cruciate ligament reconstruction (ACLR). MATERIALS AND METHODS: A three-phase, integrated mixed-methods review of observational and ...

• Syndromic Monogenic Diabetes Genes Should be Tested in Patients With a Clinical Suspicion of MODY 

  Colclough, K.; Ellard, S.; Hattersley, A.; Patel, K. (American Diabetes Association, 2021-11-17)

  At present, outside of infancy, genetic testing for monogenic diabetes is typically for mutations in MODY genes that predominantly result in isolated diabetes. Monogenic diabetes syndromes are usually only tested when this ...

• The role of astrocytes in brain metastasis at the interface of circulating tumour cells and the blood brain barrier 

  Burn, L.; Gutowski, N.; Whatmore, J.; Giamas, G.; Pranjol, M. Z. I. (Bioscience Research Institute, 2021-09-30)

  Tumour metastasis to the brain is a complex process involving crosstalk between the circulating tumour cells and the blood brain barrier (BBB). Astrocytes, which reside in the abluminal surface of the microvasculature of ...

• The role of an infection prevention and control nurse 

  West, J. (International Centre for Eye Health, 2021-06-25)

• Quality improvement in action 

  Nash, Kate; Garratt, Anna (Mark Allen Group, 2021-10-01)

• SDHC phaeochromocytoma and paraganglioma: A UK-wide case series 

  Williams, S. T.; Chatzikyriakou, P.; Carroll, P. V.; McGowan, B. M.; Velusamy, A.; White, G.; Obholzer, R.; Akker, S.; Tufton, N.; Casey, R. T.; Maher, E. R.; Park, S. M.; Porteous, M.; Dyer, R.; Tan, T.; Wernig, F.; Brady, A. F.; Kosicka-Slawinska, M.; Whitelaw, B. C.; Dorkins, H.; Lalloo, F.; Brennan, P.; Carlow, J.; Martin, R.; Mitchell, A. L.; Harrison, R.; Hawkes, L.; Newell-Price, J.; Kelsall, A.; Igbokwe, R.; Adlard, J.; Schirwani, S.; Davidson, R.; Morrison, P. J.; Chung, T. T.; Bowles, C.; Izatt, L. (Wiley, 2021-09-29)

  OBJECTIVE: Phaeochromocytomas and paragangliomas (PPGL) are rare, but strongly heritable tumours. Variants in succinate dehydrogenase (SDH) subunits are identified in approximately 25% of cases. However, clinical and genetic ...

• Robinow syndrome in an extremely preterm infant: Novel homozygous ROR2 variant detected by rapid exome sequencing 

  McDermott, H.; Robinson, H. K.; Caswell, R.; Gowda, H.; Offiah, A.; Naik, S. (Wiley, 2021-09-24)

  An extremely preterm infant presented with clinical and radiological features of Robinow syndrome including butterfly vertebrae, posterior rib fusion, brachydactyly, nail hypoplasia, and retromicrognathia resulting in ...

• Rapid genomic testing for critically ill children: time to become standard of care? 

  Stark, Z.; Ellard, S. (Nature, 2021-11-08)

  Rapid genomic testing in critically ill neonatal and paediatric patients has transformed the paradigm of rare disease diagnosis, delivering results in real time to inform patient management. More than 20 studies totalling ...

• Survey of the use of videolaryngoscopy in neonatal units in the UK 

  Thomas, H.; Lugg, R.; James, B.; Geeroms, C.; Risbridger, A.; Bell, R.; Bartle, D. G. (BMJ, 2021-10-19)

• Idiopathic Spontaneous Pneumomediastinum in an Adolescent 

  Malik, H.; Boyes, S.; Dobson, L.; Kent, W. (PubMed Central, 2021-09-01)

  Idiopathic spontaneous pneumomediastinum (ISPM) is a diagnosis of exclusion after a spontaneous pneumomediastinum (SPM) occurs without any identifiable predisposing factors or known aetiology. It is a rare diagnosis in ...

• Estimating disease prevalence in large datasets using genetic risk scores 

  Evans, B. D.; Słowiński, P.; Hattersley, A. T.; Jones, S. E.; Sharp, S.; Kimmitt, R. A.; Weedon, M. N.; Oram, R. A.; Tsaneva-Atanasova, K.; Thomas, N. J. (Nature, 2021-11-08)

  Clinical classification is essential for estimating disease prevalence but is difficult, often requiring complex investigations. The widespread availability of population level genetic data makes novel genetic stratification ...

• Expectant management of borderline ovarian tumor during pregnancy 

  Iavazzo, C.; Gkegkes, I. D. (Springer, 2021-12-01)

• Erratum: Removal notice to Osteogenesis imperfecta Type XI: a rare cause of severe infantile cervical kyphosis" [Radiology Case Reports 15 (2020) 2157-2163]" 

  Ferguson, J. L.; Burrows, S. R. (Elsevier, 2021-11-01)

  [This corrects the article DOI: 10.1016/j.radcr.2020.06.049.].

• Molecular Genetics, Clinical Characteristics, and Treatment Outcomes of K(ATP)-Channel Neonatal Diabetes Mellitus in Vietnam National Children's Hospital 

  Ngoc, C. T. B.; Dien, T. M.; De Franco, E.; Ellard, S.; Houghton, J. A. L.; Lan, N. N.; Thao, B. P.; Khanh, N. N.; Flanagan, S. E.; Craig, M. E.; Dung, V. C. (Frontiers Media, 2021-09-09)

  BACKGROUND: Neonatal diabetes mellitus (NDM) is defined as insulin-requiring persistent hyperglycemia occurring within the first 6 months of life, which can result from mutations in at least 25 different genes. Activating ...

• Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss 

  Richard, E. M.; Bakhtiari, S.; Marsh, A. P. L.; Kaiyrzhanov, R.; Wagner, M.; Shetty, S.; Pagnozzi, A.; Nordlie, S. M.; Guida, B. S.; Cornejo, P.; Magee, H.; Liu, J.; Norton, B. Y.; Webster, R. I.; Worgan, L.; Hakonarson, H.; Li, J.; Guo, Y.; Jain, M.; Blesson, A.; Rodan, L. H.; Abbott, M. A.; Comi, A.; Cohen, J. S.; Alhaddad, B.; Meitinger, T.; Lenz, D.; Ziegler, A.; Kotzaeridou, U.; Brunet, T.; Chassevent, A.; Smith-Hicks, C.; Ekstein, J.; Weiden, T.; Hahn, A.; Zharkinbekova, N.; Turnpenny, P.; Tucci, A.; Yelton, M.; Horvath, R.; Gungor, S.; Hiz, S.; Oktay, Y.; Lochmuller, H.; Zollino, M.; Morleo, M.; Marangi, G.; Nigro, V.; Torella, A.; Pinelli, M.; Amenta, S.; Husain, R. A.; Grossmann, B.; Rapp, M.; Steen, C.; Marquardt, I.; Grimmel, M.; Grasshoff, U.; Korenke, G. C.; Owczarek-Lipska, M.; Neidhardt, J.; Radio, F. C.; Mancini, C.; Claps Sepulveda, D. J.; McWalter, K.; Begtrup, A.; Crunk, A.; Guillen Sacoto, M. J.; Person, R.; Schnur, R. E.; Mancardi, M. M.; Kreuder, F.; Striano, P.; Zara, F.; Chung, W. K.; Marks, W. A.; van Eyk, C. L.; Webber, D. L.; Corbett, M. A.; Harper, K.; Berry, J. G.; MacLennan, A. H.; Gecz, J.; Tartaglia, M.; Salpietro, V.; Christodoulou, J.; Kaslin, J.; Padilla-Lopez, S.; Bilguvar, K.; Munchau, A.; Ahmed, Z. M.; Hufnagel, R. B.; Fahey, M. C.; Maroofian, R.; Houlden, H.; Sticht, H.; Mane, S. M.; Rad, A.; Vona, B.; Jin, S. C.; Haack, T. B.; Makowski, C.; Hirsch, Y.; Riazuddin, S.; Kruer, M. C. (Cell Press, 2021-10-07)

  Spermatogenesis-associated 5 like 1 (SPATA5L1) represents an orphan gene encoding a protein of unknown function. We report 28 bi-allelic variants in SPATA5L1 associated with sensorineural hearing loss in 47 individuals ...

• Changes in the Management of Patients having Radical Radiotherapy for Lung Cancer during the First Wave of the COVID-19 Pandemic in the UK 

  Banfill, K.; Croxford, W.; Fornacon-Wood, I.; Wicks, K.; Ahmad, S.; Britten, A.; Carson, C.; Dorey, N.; Hatton, M.; Hiley, C.; Thippu Jayaprakash, K.; Jegannathen, A.; Koh, P.; Panakis, N.; Peedell, C.; Pope, A.; Powell, C.; Stilwell, C.; Thomas, B.; Toy, E.; Wood, V.; Yahya, S.; Zhou, S. Y.; Price, G.; Faivre-Finn, C. (Elsevier, 2021-10-28)

  AIMS: In response to the COVID-19 pandemic, guidelines on reduced fractionation for patients treated with curative-intent radiotherapy were published, aimed at reducing the number of hospital attendances and potential ...

• Birth weight and diazoxide unresponsiveness strongly predict the likelihood of congenital hyperinsulinism due to a mutation in ABCC8 or KCNJ11 

  Hewat, T. I.; Yau, D.; Jerome, J. C. S.; Laver, T. W.; Houghton, J. A. L.; Shields, B. M.; Flanagan, S. E.; Patel, K. A. (BioScientifica, 2021-10-30)

  OBJECTIVE: Mutations in the KATP channel genes, ABCC8 and KCNJ11, are the most common cause of congenital hyperinsulinism. The diagnosis of KATP-hyperinsulinism is important for the clinical management of the condition. ...

• Association of birthweight and penetrance of diabetes in individuals with HNF4A-MODY: a cohort study 

  Locke, J. M.; Dusatkova, P.; Colclough, K.; Hughes, A. E.; Dennis, J. M.; Shields, B.; Flanagan, S. E.; Shepherd, M. H.; Dempster, E. L.; Hattersley, A. T.; Weedon, M. N.; Pruhova, S.; Patel, K. A. (Springer, 2021-10-07)

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