Conducting ethical, co-produced research with autistic individuals with an eating disorder: best practice guidelines.

There is a notable overlap between autism and eating disorders (EDs), and autistic individuals may experience poorer ED treatment outcomes than non-autistic peers. To make meaningful change in this field, it is imperative that we actively engage in co-production of research, however there are currently no guidelines to support co-production with autistic people with eating disorders. This paper reports on best practice guidelines that were co-produced across a series of workshops bringing together autistic people with EDs, researchers, clinicians, third-sector organisations, and parents/carers.

Prevalence and pattern of retinopathy of prematurity at two national referral hospitals in Uganda: a cross-sectional study.

Background: Retinopathy of prematurity (ROP) is a leading cause of blindness in children and an ROP epidemic is predicted this decade in sub-Saharan Africa. With the increasing survival rate of preterm babies in Uganda, and no data on ROP prevalence, there is a need to assess the burden of ROP to inform preventive strategies and targeted screening.

Methods: We conducted a two-center cross-sectional study of preterm (< 37 weeks gestational age) infants from the neonatal units of Kawempe National Referral Hospital (KNRH) and Mulago Specialised Women and Neonatal Hospital (MSWNH) from August 2022 to October 2022.

Proteomic profiling of centrosomes across multiple mammalian cell and tissue types by an affinity capture method.

Centrosomes are the major microtubule-organizing centers in animals and play fundamental roles in many cellular processes. Understanding how their composition varies across diverse cell types and how it is altered in disease are major unresolved questions, yet currently available centrosome isolation protocols are cumbersome and time-consuming, and they lack scalability. Here, we report the development of centrosome affinity capture (CAPture)-mass spectrometry (MS), a powerful one-step purification method to obtain high-resolution centrosome proteomes from mammalian cells.

Transcriptional neural-like signaling contributes to an immune-suppressive tumor microenvironment.

Tumor innervation has recently been documented and characterized in various settings and tumor types. However, the role that nerves innervating tumors play in the pathogenesis of cancer has not been clarified. In this study, we searched for neural signaling from bulk RNA sequencing from The Cancer Genome Atlas (TCGA) dataset and looked for patterns of interactions between different cell types within the tumor environment.

Identification of a recurrent mosaic variant in brain tissue from an individual with nevus sebaceous syndrome.

Nevus sebaceous syndrome (NSS) is a rare, multisystem neurocutaneous disorder, characterized by a congenital nevus, and may include brain malformations such as hemimegalencephaly or focal cortical dysplasia, ocular, and skeletal features. It has been associated with several eponyms including Schimmelpenning and Jadassohn. The isolated skin lesion, nevus sebaceous, is associated with postzygotic variants in or in all individuals studied.

Novel small molecule inhibitor of Kpnβ1 induces cell cycle arrest and apoptosis in cancer cells.

Karyopherin beta 1 (Kpnβ1) is a major nuclear import receptor that mediates the import of cellular cargoes into the nucleus. Recently it has been shown that Kpnβ1 is highly expressed in several cancers, and its inhibition by siRNA induces apoptotic cancer cell death, while having little effect on non-cancer cells. This study investigated the effect of a novel small molecule, Inhibitor of Nuclear Import-60 (INI-60), on cancer cell biology, as well as nuclear import activities associated with Kpnβ1, and cancer progression in vivo using cervical and oesophageal cancer cell lines.

Accessorizing the centrosome: new insights into centriolar appendages and satellites.

Centrosomes comprise two centrioles, the mother and daughter, embedded within a multi-layered proteinaceous matrix known as the pericentriolar material. In proliferating cells, centrosomes duplicate once per cell cycle and organise interphase and mitotic microtubule arrays, whereas in quiescent cells, the mother centriole templates primary cilium formation. Centrosomes have acquired various accessory structures to facilitate these disparate functions.

Anesthesia management of laser photocoagulation for retinopathy of prematurity. A retrospective review of perioperative adverse events.

Aims: The aim of this study was to report the incidence of perioperative adverse events occurring in infants undergoing diode laser photocoagulation of retinopathy of prematurity and to identify clinical risk factors that may affect the incidence.

Methods: This was a retrospective study of anesthetic and medical records of premature infants who were treated in the neonatal intensive care unit or an operating theater with laser photocoagulation in our institution between January 2014 and December 2019. Infants less than 38 weeks post-menstrual age or less than 2000 grams were considered high risk for complications.

Adding function to the genome of African Salmonella Typhimurium ST313 strain D23580.

Salmonella Typhimurium sequence type (ST) 313 causes invasive nontyphoidal Salmonella (iNTS) disease in sub-Saharan Africa, targeting susceptible HIV+, malarial, or malnourished individuals. An in-depth genomic comparison between the ST313 isolate D23580 and the well-characterized ST19 isolate 4/74 that causes gastroenteritis across the globe revealed extensive synteny. To understand how the 856 nucleotide variations generated phenotypic differences, we devised a large-scale experimental approach that involved the global gene expression analysis of strains D23580 and 4/74 grown in 16 infection-relevant growth conditions.

A tight balance of Karyopherin β1 expression is required in cervical cancer cells.

Background: Karyopherin β1 (Kpnβ1) is the main nuclear import protein involved in the transport of cargoes from the cytoplasm into the cell nucleus. Previous research has found Kpnβ1 to be significantly overexpressed in cervical cancer and other cancer tissues, and further studies showed that inhibition of Kpnβ1 expression by siRNA resulted in cancer cell death, while non-cancer cells were minimally affected. These results suggest that Kpnβ1 has potential as an anticancer therapeutic target, thus warranting further research into the association between Kpnβ1 expression and cancer progression.

PERIPHERAL RETINAL DRUSEN-LIKE DEPOSITS IN GUCY2C CONGENITAL SECRETORY DIARRHEA SYNDROME.

Purpose: To report the presence of drusen in infancy, in a patient with Type 1 retinopathy of prematurity and a rare congenital sodium diarrhea secondary to a sporadic GUCY2C mutation.

Methods: A case report generated by review of clinical course, with imaging of 1 patient and literature review.

Results: A 1.

The impact of shared sanitation facilities on diarrheal diseases with and without an environmental reservoir: a modeling study.

Epidemiological studies have identified an increased risk of diarrheal diseases associated with using shared sanitation facilities. We hypothesized that this might be related to differences in transmission routes of pathogens. We proposed a mathematical model of two fictitious pathogens, one transmitted with an environmental reservoir and one without.

Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay.

Inherited metabolic disorders are traditionally diagnosed using broad and expensive panels of screening tests, often including invasive skin and muscle biopsy. Proponents of next-generation genetic sequencing have argued that replacing these screening panels with whole exome sequencing (WES) would save money. Here, we present a complex patient in whom WES allowed diagnosis of GM1 gangliosidosis, caused by homozygous GLB1 mutations, resulting in β-galactosidase deficiency.

New trends in childhood vision impairment in a developed country.

Background: The Education Vision Assessment Clinic (EVAC) is a unique statewide service that reviews school children 4-18 years of age with low vision in Victoria, Australia, to determine their eligibility for educational support. The purpose of this study was to identify causes of vision impairment in students in Victoria using data from the EVAC.

Methods: Data collected from students who attended the EVAC at the Royal Victorian Eye and Ear Hospital, Melbourne, between the years 2003 and 2012 inclusive, were analyzed retrospectively.

CAHOST: An Excel Workbook for Facilitating the Johnson-Neyman Technique for Two-Way Interactions in Multiple Regression.

When using multiple regression, researchers frequently wish to explore how the relationship between two variables is moderated by another variable; this is termed an interaction. Historically, two approaches have been used to probe interactions: the pick-a-point approach and the Johnson-Neyman (JN) technique. The pick-a-point approach has limitations that can be avoided using the JN technique.

An international comparison of retinopathy of prematurity grading performance within the Benefits of Oxygen Saturation Targeting II trials.

PurposeTo investigate whether the observed international differences in retinopathy of prematurity (ROP) treatment rates within the Benefits of Oxygen Saturation Targeting (BOOST) II trials might have been caused by international variation in ROP disease grading.MethodsGroups of BOOST II trial ophthalmologists in UK, Australia, and New Zealand (ANZ), and an international reference group (INT) used a web based system to grade a selection of RetCam images of ROP acquired during the BOOST II UK trial. Rates of decisions to treat, plus disease grading, ROP stage grading, ROP zone grading, inter-observer variation within groups and intra-observer variation within groups were measured.

Discordant retinopathy of prematurity in twin anemia-polycythemia sequence.

We report the case of severe retinopathy of prematurity (ROP) in the donor twin with twin anemia-polycythemia sequence managed with the novel treatment of intrauterine blood transfusions. The fellow polycythemic twin was managed with intrauterine venesection and developed only mild ROP. Thus, despite intrauterine improvement of the twins' hemodynamic conditions, the risk of developing severe ROP remained in the donor twin.

Pseudogenization of the Secreted Effector Gene sseI Confers Rapid Systemic Dissemination of S. Typhimurium ST313 within Migratory Dendritic Cells.

Genome degradation correlates with host adaptation and systemic disease in Salmonella. Most lineages of the S. enterica subspecies Typhimurium cause gastroenteritis in humans; however, the recently emerged ST313 lineage II pathovar commonly causes systemic bacteremia in sub-Saharan Africa.