Ensembl 2025.

Ensembl (www.ensembl.org) is an open platform integrating publicly available genomics data across the tree of life with a focus on eukaryotic species related to human health, agriculture and biodiversity.

GENCODE 2025: reference gene annotation for human and mouse.

GENCODE produces comprehensive reference gene annotation for human and mouse. Entering its twentieth year, the project remains highly active as new technologies and methodologies allow us to catalog the genome at ever-increasing granularity. In particular, long-read transcriptome sequencing enables us to identify large numbers of missing transcripts and to substantially improve existing models, and our long non-coding RNA catalogs have undergone a dramatic expansion and reconfiguration as a result.

A supergene affects androgen concentrations during early development in a bird with alternative reproductive morphs.

Species with alternative reproductive tactics typically show pronounced phenotypic variation between and within sexes. In some species, this variation culminates in discrete reproductive morphs that are genetically determined, facilitating studies on how genetic variation translates into phenotypic variation. In ruffs (Calidris pugnax), an autosomal inversion polymorphism underlies three reproductive morphs (Independents, Satellites and Faeders), which differ in circulating steroid concentrations in adults.

Tracheobronchial foreign body aspiration in children in Soweto, South Africa: A retrospective descriptive study.

Background: Airway foreign bodies are a common cause of accidental death in children. Tracheobronchial foreign body aspiration (FBA) can result in severe immediate and long-term complications if the foreign body is not identified and removed. Little is known about the burden of tracheobronchial FBA in the Soweto area, south of Johannesburg, South Africa.

The paediatric liver transplant experience in Johannesburg, South Africa: A broad overview and update.

The Wits Transplant Unit performed its first paediatric liver transplant in 2005. Initial experiences from the unit were published in 2012 and 2014. Since then, significant progress has been made in capacity-building the unit, improving outcomes and enhancing service delivery.

ABO-incompatible liver transplantation - exploring utilitarian solutions to restricted access and organ shortages: A single-centre experience from Johannesburg, South Africa.

Background: Liver transplantation is the definitive management for severe acute liver failure refractory to supportive management, and end- stage chronic liver failure. Owing to a shortage of deceased liver donors, South Africa requires innovative techniques to broaden the donor pool.

Objectives: This study evaluated the outcomes of the Wits Transplant Unit ABO-incompatible liver transplant (ABOi-LT) programme.

Renal transplant recipient and deceased-donor risk profiles at Wits Donald Gordon Medical Centre, Johannesburg, South Africa: A 9-year review.

Background: Renal transplantation is the gold-standard therapy for end-stage renal disease. Decision-making around the acceptance of deceased-donor organs is complex and time sensitive. Risk scoring systems for both donors and recipients attempt to simplify the allocation of renal grafts to the most appropriate recipient.

Wits Transplant Unit Annual Report 2022: Adult and paediatric liver transplantation.

In 2022, the Wits Transplant Unit performed 57 liver transplants: 33/57 adult (58%) and 24/57 paediatric (42%) recipients. At the beginning of 2022, 28 candidates were on the adult waitlist. Forty-six candidates were added to the waitlist during the year.

A retrospective analysis of outcomes and complications of living- and deceased-donor split-liver transplantation in Johannesburg, South Africa.

Background: South African transplant centres are faced with significant challenges in meeting the need for liver transplantation, owing to the low and ever-decreasing number of deceased-donor organs. To increase organ utility, deceased-donor split-liver transplant (DDSLT) and living-donor liver transplant (LDLT) programmes were initiated in the Wits Transplant Unit.

Objective: To evaluate outcomes of the LDLT and DDSLT programmes.

Responding to the need: An evaluation of the subspecialty units in a pediatric surgical department in a limited resource setting using selected optimal resources for children's surgery strategies.

Background: The Global Initiative for Children's Surgery group published the Optimal Resources for Children's Surgery (OReCS) document outlining the essential criteria and strategies for children's surgical care in low-resource settings. Limited data exist on subspecialties in pediatric surgery and their contribution to global surgery efforts. The study aimed to evaluate the development of subspecialty units within Chris Hani Baragwanath Academic Hospital (CHBAH) Department of Pediatric Surgery (DPS) from January 1, 2018 to December 31, 2021 using selected OReCS strategies for the improvement of pediatric surgery.

Telephonic follow-up after day case pediatric surgery in an upper middle income country: A pilot study.

Background: One third of South African children live in households with no employed adult. Telemedicine may save patients and the strained public health sector significant resources. We aimed to determine the safety and benefits of telephonic post-operative follow-up of patients who presented for day case surgery at CHBAH from 1 January-31 March 2023.

Radiation doses received in the UK breast screening programmes 2019-2023.

Objective: To report the latest UK mammography dose survey results and to compare radiation doses from digital breast tomosynthesis (DBT) and full-field digital mammography (FFDM) in UK breast screening.

Methods: Anonymized exposure factors were collected for 111 152 screening cases and 5113 assessment cases from 405 x-ray sets across the United Kingdom using an online submission system linked to a national database of mammography quality control data. Output and beam quality measurements from each set were combined with exposure data to estimate mean glandular doses (MGD).

Ensembl 2024.

Ensembl (https://www.ensembl.org) is a freely available genomic resource that has produced high-quality annotations, tools, and services for vertebrates and model organisms for more than two decades.

The African Liver Tissue Biorepository Consortium: Capacitating Population-Appropriate Drug Metabolism, Pharmacokinetics, and Pharmacogenetics Research in Drug Discovery and Development.

Pharmaceutical companies subject all new molecular entities to a series of in vitro metabolic characterizations that guide the selection and/or design of compounds predicted to have favorable pharmacokinetic properties in humans. Current drug metabolism research is based on liver tissue predominantly obtained from people of European origin, with limited access to tissue from people of African origin. Given the interindividual and interpopulation genomic variability in genes encoding drug-metabolizing enzymes, efficacy and safety of some drugs are poorly predicted for African populations.

A retrospective review of recombinant human platelet-derived growth factor with beta-tricalcium phosphate bone graft substitute use in hindfoot and/or ankle arthrodesis.

Background: Nonunion following foot and ankle arthrodesis can cause chronic pain and disability, poor patient satisfaction, and increased healthcare costs. Nonunion rates are reported in 10%-12% of primary foot and/or ankle arthrodesis procedures, with significantly greater rates among patients with high-risk factors such as smoking, diabetes, obesity, or Charcot neuroarthropathy. Recombinant human platelet-derived growth factor BB-homodimer with beta-tricalcium phosphate (rhPDGF-BB/β-TCP) is a bone graft substitute that has demonstrated efficacy in foot and ankle fusion rates that are comparable to autograft.

Successes and challenges in extracting information from DICOM image databases for audit and research.

In radiography, much valuable associated data (metadata) is generated during image acquisition. The current setup of picture archive and communication systems (PACS) can make extraction of this metadata difficult, especially as it is typically stored with the image. The aim of this work is to examine the current challenges in extracting image metadata and to discuss the potential benefits of using this rich information.

Dietary nucleotides can prevent glucocorticoid-induced telomere attrition in a fast-growing wild vertebrate.

Telomeres are chromosome protectors that shorten during eukaryotic cell replication and in stressful conditions. Developing individuals are susceptible to telomere erosion when their growth is fast and resources are limited. This is critical because the rate of telomere attrition in early life is linked to health and life span of adults.

Clonality, local population structure and gametophyte sex ratios in cryptic species of the Sphagnum magellanicum complex.

Background And Aims: Sphagnum (peatmoss) comprises a moss (Bryophyta) clade with ~300-500 species. The genus has unparalleled ecological importance because Sphagnum-dominated peatlands store almost a third of the terrestrial carbon pool and peatmosses engineer the formation and microtopography of peatlands. Genomic resources for Sphagnum are being actively expanded, but many aspects of their biology are still poorly known.

Rectal suction biopsies to diagnose Hirschsprung's disease in a low-resource environment - optimising cost-effectiveness.

Background: The diagnosis of Hirschsprung's disease (HD) by rectal suction biopsy (RSB) has cost implications that could be reduced by ascertaining the optimal number of specimens required. The aim was to audit our experience to optimise cost-effectiveness.

Methods: Medical records of all patients who underwent an RSB between January 2018 and December 2021 were reviewed.

A surgeon's dress code - the patients' perspective.

Background: The dress code for surgeons has evolved over time from formal suit-and-tie to crisp white coat, and currently to various forms of smart-casual attire; however, there is no stipulated or rigid uniform guideline. It is important to explore and discuss the various forms of attire in relation to patients' ideals and perceptions of a surgeon.

Methods: An observational study in the form of a paper-based questionnaire was carried out at the Charlotte Maxeke Johannesburg Academic Hospital (CMJAH), Chris Hani Baragwanath Academic Hospital (CHBAH) and Wits Donald Gordon Medical Centre (WDGMC).