Specialist Services: Recent submissions

Now showing items 1-20 of 959

    • Peritoneal bacteria contamination and endometriosis pathogenesis 

      Iavazzo, C.; Vrachnis, N.; Gkegkes, I. D. (Springer, 2022-02-22)

    • THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder 

      Broly, M.; Polevoda, B. V.; Awayda, K. M.; Tong, N.; Lentini, J.; Besnard, T.; Deb, W.; O'Rourke, D.; Baptista, J.; Ellard, S.; Almannai, M.; Hashem, M.; Abdulwahab, F.; Shamseldin, H.; Al-Tala, S.; Alkuraya, F. S.; Leon, A.; van Loon, R. L. E.; Ferlini, A.; Sanchini, M.; Bigoni, S.; Ciorba, A.; van Bokhoven, H.; Iqbal, Z.; Al-Maawali, A.; Al-Murshedi, F.; Ganesh, A.; Al-Mamari, W.; Lim, S. C.; Pais, L. S.; Brown, N.; Riazuddin, S.; Bézieau, S.; Fu, D.; Isidor, B.; Cogné, B.; O'Connell, M. R. (Cell Press, 2022-02-11)
      Covalent tRNA modifications play multi-faceted roles in tRNA stability, folding, and recognition, as well as the rate and fidelity of translation, and other cellular processes such as growth, development, and stress ...

    • What is new in migraine management in children and young people? 

      Loh, N. R.; Whitehouse, W. P.; Howells, R. (BMJ, 2022-02-21)
      For this narrative review, we found recent publications on the use and effectiveness of old therapies including nutraceuticals, such as riboflavin, vitamin D, magnesium, melatonin and talking therapies. Recent large trials ...

    • Evaluation of Evidence for Pathogenicity Demonstrates that BLK, KLF11 and PAX4 Should not be Included in Diagnostic Testing for MODY 

      Laver, T. W.; Wakeling, M. N.; Knox, O.; Colclough, K.; Wright, C. F.; Ellard, S.; Hattersley, A. T.; Weedon, M. N.; Patel, K. A. (American Diabetes Association, 2022-02-02)
      Maturity Onset Diabetes of the Young (MODY) is an autosomal dominant form of monogenic diabetes, reported to be caused by variants in 16 genes. Concern has been raised about whether variants in BLK (MODY11), KLF11 (MODY7) ...

    • X-linked Ohdo syndrome due to a novel MED12 variant detected by Rapid Exome Sequencing 

      McDermott, H.; Garikapati, V.; Baptista, J.; Gowda, H.; Naik, S. (Wolters Kluwer, 2022-04-01)

    • SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile 

      Al-Jawahiri, R.; Foroutan, A.; Kerkhof, J.; McConkey, H.; Levy, M.; Haghshenas, S.; Rooney, K.; Turner, J.; Shears, D.; Holder, M.; Lefroy, H.; Castle, B.; Reis, L. M.; Semina, E. V.; Lachlan, K.; Chandler, K.; Wright, T.; Clayton-Smith, J.; Hug, F. P.; Pitteloud, N.; Bartoloni, L.; Hoffjan, S.; Park, S. M.; Thankamony, A.; Lees, M.; Wakeling, E.; Naik, S.; Hanker, B.; Girisha, K. M.; Agolini, E.; Giuseppe, Z.; Alban, Z.; Tessarech, M.; Keren, B.; Afenjar, A.; Zweier, C.; Reis, A.; Smol, T.; Tsurusaki, Y.; Nobuhiko, O.; Sekiguchi, F.; Tsuchida, N.; Matsumoto, N.; Kou, I.; Yonezawa, Y.; Ikegawa, S.; Callewaert, B.; Freeth, M.; Kleinendorst, L.; Donaldson, A.; Alders, M.; De Paepe, A.; Sadikovic, B.; McNeill, A. (Nature, 2022-03-24)
      PURPOSE: This study aimed to undertake a multidisciplinary characterization of the phenotype associated with SOX11 variants. METHODS: Individuals with protein altering variants in SOX11 were identified through exome and ...

    • Clinical and genetic heterogeneity of HNF4A/HNF1A mutations in a multicentre paediatric cohort with hyperinsulinaemic hypoglycaemia 

      McGlacken-Byrne, S. M.; Mohammad, J. K.; Conlon, N.; Gubaeva, D.; Siersbæk, J.; Schou, A. J.; Demirbilek, H.; Dastamani, A.; Houghton, J. A. L.; Brusgaard, K.; Melikyan, M.; Christesen, H.; Flanagan, S. E.; Murphy, N. P.; Shah, P. (BioScientifica, 2022-02-22)
      OBJECTIVE: The phenotype mediated by HNF4A/HNF1A mutations is variable and includes diazoxide-responsive hyperinsulinaemic hypoglycaemia (HH) and maturity-onset diabetes of the young (MODY). DESIGN: We characterised an ...

    • Artificial intelligence - can it be used to outsmart oral cancer? 

      Baniulyte, G.; Ali, K. (Springer Nature, 2022-03-01)
      Data Sources Electronic search on PubMed, Cochrane, Scopus, Embase, Google Scholar, Saudi Digital Library and Web of Science, and hand searching carried out for studies published January 2000-March 2021. Language was ...

    • Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and mice 

      Rawlins, L. E.; Almousa, H.; Khan, S.; Collins, S. C.; Milev, M. P.; Leslie, J.; Saint-Dic, D.; Khan, V.; Hincapie, A. M.; Day, J. O.; McGavin, L.; Rowley, C.; Harlalka, G. V.; Vancollie, V. E.; Ahmad, W.; Lelliott, C. J.; Gul, A.; Yalcin, B.; Crosby, A. H.; Sacher, M.; Baple, E. L. (PLoS One, 2022-03-01)
      The highly evolutionarily conserved transport protein particle (TRAPP) complexes (TRAPP II and III) perform fundamental roles in subcellular trafficking pathways. Here we identified biallelic variants in TRAPPC10, a component ...

    • Effects of an Extensively Hydrolyzed Formula Supplemented with Two Human Milk Oligosaccharides on Growth, Tolerability, Safety and Infection Risk in Infants with Cow's Milk Protein Allergy: A Randomized, Multi-Center Trial 

      Vandenplas, Y.; Żołnowska, M.; Berni Canani, R.; Ludman, S.; Tengelyi, Z.; Moreno-Álvarez, A.; Goh, A. E. N.; Gosoniu, M. L.; Kirwan, B. A.; Tadi, M.; Heine, R. G.; Cinnamon Study Investigator, Group (MDPI, 2022-01-26)
      This randomized clinical trial (Registration: NCT03085134) assessed if an extensively hydrolyzed formula (EHF) supplemented with two human milk oligosaccharides (HMO) and reduced protein content (2.20 g/100 kcal) supports ...

    • Increased referrals for congenital hyperinsulinism genetic testing in children with trisomy 21 reflects the high burden of non-genetic risk factors in this group 

      Hewat, T. I.; Laver, T. W.; Houghton, J. A. L.; Männistö, J. M. E.; Alvi, S.; Brearey, S. P.; Cody, D.; Dastamani, A.; De Los Santos La Torre, M.; Murphy, N.; Rami-Merhar, B.; Wefers, B.; Huopio, H.; Banerjee, I.; Johnson, M. B.; Flanagan, S. E. (Wiley, 2022-03-16)
      BACKGROUND: Hyperinsulinism results from inappropriate insulin secretion during hypoglycaemia. Down syndrome is causally linked to a number of endocrine disorders including Type 1 diabetes and neonatal diabetes. We noted ...

    • Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome 

      Angelozzi, M.; Karvande, A.; Molin, A. N.; Ritter, A. L.; Leonard, J. M. M.; Savatt, J. M.; Douglass, K.; Myers, S. M.; Grippa, M.; Tolchin, D.; Zackai, E.; Donoghue, S.; Hurst, A. C. E.; Descartes, M.; Smith, K.; Velasco, D.; Schmanski, A.; Crunk, A.; Tokita, M. J.; de Lange, I. M.; van Gassen, K.; Robinson, H.; Guegan, K.; Suri, M.; Patel, C.; Bournez, M.; Faivre, L.; Tran-Mau-Them, F.; Baker, J.; Fabie, N.; Weaver, K.; Shillington, A.; Hopkin, R. J.; Barge-Schaapveld, Dqcm; Ruivenkamp, C. A.; Bökenkamp, R.; Vergano, S.; Seco Moro, M. N.; Díaz de Bustamante, A.; Misra, V. K.; Kennelly, K.; Rogers, C.; Friedman, J.; Wigby, K. M.; Lenberg, J.; Graziano, C.; Ahrens-Nicklas, R. C.; Lefebvre, V. (BMJ, 2022-03-01)
      BACKGROUND: A neurodevelopmental syndrome was recently reported in four patients with SOX4 heterozygous missense variants in the high-mobility-group (HMG) DNA-binding domain. The present study aimed to consolidate clinical ...

    • UK recommendations for SDHA germline genetic testing and surveillance in clinical practice 

      Hanson, H.; Durkie, M.; Lalloo, F.; Izatt, L.; McVeigh, T. P.; Cook, J. A.; Brewer, C.; Drummond, J.; Butler, S.; Cranston, T.; Casey, R.; Tan, T.; Morganstein, D.; Eccles, D. M.; Tischkowitz, M.; Turnbull, C.; Woodward, E. R.; Maher, E. R. (BMJ, 2022-03-08)
      SDHA pathogenic germline variants (PGVs) are identified in up to 10% of patients with paraganglioma and phaeochromocytoma and up to 30% with wild-type gastrointestinal stromal tumours. Most SDHA PGV carriers present with ...

    • Primary Umbilical Endometriosis: Villar's Nodule 

      Iavazzo, C.; Vrachnis, N.; Gkegnes, I. D. (Galenos Publishing House, 2022-03-18)

    • Chewing gum in the enhanced recovery protocols of patients undergoing total laparoscopic hysterectomy 

      Iavazzo, C.; Gkegkes, I. D.; Vrachnis, N. (Taylor and Francis, 2022-02-15)

    • Associations Between Glycemic Traits and Colorectal Cancer: A Mendelian Randomization Analysis 

      Murphy, N.; Song, M.; Papadimitriou, N.; Carreras-Torres, R.; Langenberg, C.; Martin, R. M.; Tsilidis, K. K.; Barroso, I.; Chen, J.; Frayling, T.; Bull, C. J.; Vincent, E. E.; Cotterchio, M.; Gruber, S. B.; Pai, R. K.; Newcomb, P. A.; Perez-Cornago, A.; van Duijnhoven, F. J. B.; Van Guelpen, B.; Vodicka, P.; Wolk, A.; Wu, A. H.; Peters, U.; Chan, A. T.; Gunter, M. J. (Oxford University Press, 2022-01-20)
      BACKGROUND: Glycemic traits-such as hyperinsulinemia, hyperglycemia, and type-2 diabetes-have been associated with higher colorectal cancer risk in observational studies; however, causality of these associations is uncertain. ...

    • Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B) 

      Lin, S.; Sanchez-Bretaño, A.; Leslie, J. S.; Williams, K. B.; Lee, H.; Thomas, N. S.; Callaway, J.; Deline, J.; Ratnayaka, J. A.; Baralle, D.; Schmitt, M. A.; Norman, C. S.; Hammond, S.; Harlalka, G. V.; Ennis, S.; Cross, H. E.; Wenger, O.; Crosby, A. H.; Baple, E. L.; Self, J. E. (PubMed Central, 2022-01-13)
      Oculocutaneous albinism type 1 (OCA1) is caused by pathogenic variants in the TYR (tyrosinase) gene which encodes the critical and rate-limiting enzyme in melanin synthesis. It is the most common OCA subtype found in ...

    • A feasibility study of multisite networked digital pathology reporting in England 

      Mayall, Frederick; Smethurst, Hanne-Brit; Semkin, Leonid; Mandalia, Trupti; Sohail, Muhammed; Hadden, Rob; Biddlestone, Leigh (Medknow Publications, 2022-01-01)
      <b>Background:</b> The objective of the project was to evaluate the feasibility of introducing a single-networked digital histopathology reporting platform in the Southwest Peninsula region of England by allowing pathologists ...

    • Adjunctive Ketamine With Relapse Prevention-Based Psychological Therapy in the Treatment of Alcohol Use Disorder 

      Grabski, M.; McAndrew, A.; Lawn, W.; Marsh, B.; Raymen, L.; Stevens, T.; Hardy, L.; Warren, F.; Bloomfield, M.; Borissova, A.; Maschauer, E.; Broomby, R.; Price, R.; Coathup, R.; Gilhooly, D.; Palmer, E.; Gordon-Williams, R.; Hill, R.; Harris, J.; Mollaahmetoglu, O. M.; Curran, H. V.; Brandner, B.; Lingford-Hughes, A.; Morgan, C. J. A. (American Psychiatric Publishing, 2022-01-11)
      OBJECTIVE: Early evidence suggests that ketamine may be an effective treatment to sustain abstinence from alcohol. The authors investigated the safety and efficacy of ketamine compared with placebo in increasing abstinence ...

    • Molecular Characterization and Management of Congenital Hyperinsulinism: A Tertiary Centre Experience 

      Sharma, R.; Roy, K.; Satapathy, A. K.; Kumar, A.; Nanda, P. M.; Damle, N.; Houghton, J. A. L.; Flanagan, S. E.; Radha, V.; Mohan, V.; Jain, V. (Springer, 2022-01-05)
      BACKGROUND: There is limited data from India regarding medical management of congenital hyperinsulinism (CHI). OBJECTIVE: To study the molecular diagnosis, medical management and outcomes of children with CHI. STUDY DESIGN: ...