Specialist Services: Recent submissions
Now showing items 1-20 of 710
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Pathogenic germline variants in patients with features of hereditary renal cell carcinoma: Evidence for further locus heterogeneity
(Wiley, 2021-01)Inherited renal cell carcinoma (RCC) is associated with multiple familial cancer syndromes but most individuals with features of non-syndromic inherited RCC do not harbor variants in the most commonly tested renal cancer ... -
Challenging infections in pregnancy
(PubMed Central, 2020-09)Maternal sepsis is "a life-threatening condition defined as organ dysfunction resulting from infection during pregnancy, childbirth, post-abortion, or postpartum period." (World Health Organisation, 2017). Serious infection ... -
Robotic Management of Fibroids: Discussion of Use, Criteria and Advantages
(Acta Medica, 2020)Fibroids are the most common benign tumors affecting fertility and quality of life. Different methods either definitive or fertility sparing are used for their management by using open, laparoscopic and robotic techniques. ... -
HCV infection and the risk of head and neck cancer: A meta-analysis
(Elsevier Science, 2020-06-26)Recent evidence has consistently suggested a role for HCV in the etiology of head and neck squamous cell carcinoma (HNSCC), but the conclusions of these studies have often been limited by small sample size. Therefore, a ... -
The National Lung Matrix Trial of personalized therapy in lung cancer
(Nature Publishing Group, 2020-07)The majority of targeted therapies for non-small-cell lung cancer (NSCLC) are directed against oncogenic drivers that are more prevalent in patients with light exposure to tobacco smoke1-3. As this group represents around ... -
Ten-Year Results of FAST: A Randomized Controlled Trial of 5-Fraction Whole-Breast Radiotherapy for Early Breast Cancer
(Atypon, 2020-10-01)Purpose: Previous studies of hypofractionated adjuvant whole-breast radiotherapy for early breast cancer established a 15- or 16-fraction (fr) regimen as standard. The FAST Trial (CRUKE/04/015) evaluated normal tissue ... -
A Novel HNF4A Mutation Causing Three Phenotypic Forms of Glucose Dysregulation in a Family
(Frontiers Media SA, 2020-06-26)Maturity-onset diabetes of the young (MODY) classically describes dominantly inherited forms of monogenic diabetes diagnosed before 25 years of age due to pancreatic β-cell dysfunction. In contrast, mutations in certain ... -
Cerebral arteriopathy associated with heterozygous variants in the casitas B-lineage lymphoma gene
(Wolters Kluwer Health, Inc., 2020-06-10)Objective: To report a series of patients with cerebral arteriopathy associated with heterozygous variants in the casitas B-lineage lymphoma (CBL) gene and examine the functional role of the identified mutant Cbl protein. ... -
British Gynaecological Cancer Society (BGCS) vulval cancer guidelines: Recommendations for practice
(Elsevier Science, 2020-09)The purpose of this guideline is to collate evidence and propose evidence-based guidelines for the diagnosis and management of adult patients with vulva carcinoma treated in the UK. Malignant melanoma may present via similar ... -
Inheritance of a paternal ABCC8 variant and maternal loss of heterozygosity at 11p15 retrospectively unmasks the etiology in a case of Congenital hyperinsulinism
(Wiley, 2020-04-23)Advances in genomics and 18F-DOPA PET-CT imaging have transformed the management of infants with Congenital Hyperinsulinism. Preoperative diagnosis of focal hyperinsulinism permits limited pancreatectomy with improved ... -
Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants
(Nature Publishing Group, 2020-10)Purpose: We assessed the associations between population-based polygenic risk scores (PRS) for breast (BC) or epithelial ovarian cancer (EOC) with cancer risks for BRCA1 and BRCA2 pathogenic variant carriers. Methods: ... -
Biallelic variants in PPP1R13L cause paediatric dilated cardiomyopathy
(Wiley, 2020-10)Childhood dilated cardiomyopathy (DCM) is a leading cause of heart failure requiring cardiac transplantation and approximately 5% of cases result in sudden death. Knowledge of the underlying genetic cause can aid prognostication ... -
Randomized clinical trial of DTaP5-HB-IPV-Hib vaccine administered concomitantly with meningococcal serogroup C conjugate vaccines during the primary infant series
(Elsevier Science, 2020-07-31)Background: Concomitant administration of vaccines simplifies delivery. DTaP5-HB-IPV-Hib is a fully liquid, combination vaccine against 6 diseases. This study evaluated the compatibility of DTaP5-HB-IPV-Hib with 2 different ... -
Ectrodactyly-ectodermal dysplasia-clefting syndrome presenting with bilateral choanal atresia and rectal stenosis
(Wiley, 2020-08)We present the case of a male who shortly after birth developed acute respiratory distress due to bilateral choanal atresia, following which he was found to have rectal stenosis. Genetic testing for CHARGE syndrome was ... -
Parental experiences of a diagnosis of neonatal diabetes and perceptions of newborn screening for glucose: a qualitative study
(HighWire, 2020-11-04)Neonatal diabetes presents <6 months of life but delays in recognition result in presentation with life-threatening hyperglycaemia/diabetic ketoacidosis. Early identification and rapid genetic diagnosis is crucial and ... -
Cathepsin D in the Tumor Microenvironment of Breast and Ovarian Cancers
(Springer, 2020)Cancer remains a major and leading health problem worldwide. Lack of early diagnosis, chemoresistance, and recurrence of cancer means vast research and development are required in this area. The complexity of the tumor ... -
UKCGG Consensus Group guidelines for the management of patients with constitutional TP53 pathogenic variants
(BMJ, 2020-06-22)Constitutional pathogenic variants in TP53 are associated with Li-Fraumeni syndrome or the more recently described heritable TP53-related cancer syndrome and are associated with increased lifetime risks of a wide spectrum ... -
Point prevalence of penicillin allergy in hospital inpatients
(Elsevier Science, 2020-09)Ten percent of the general population believe themselves to be allergic to beta-lactams, many erroneously. Alternative, broader-spectrum antibiotics are associated with increased drug costs and colonization with resistant ...