CASE PRESENTATION: A child with diabetes diagnosed at age 8 years, harbored a PAX4 variant, c.890G>A (p.Gly297Asp), initially classified as variant of uncertain significance. Eleven family members (7 adults and 4 children) with and without diabetes across 3 generations were genotyped. The variant co-segregated with diabetes or prediabetes across 3 generations of the family. The variant is reclassified as likely pathogenic according to standard guidelines.
CONCLUSIONS: Genetic testing is essential to confirm PAX4-MODY as the presentation is variable even within the same family. PAX4 mutation needs to be considered in MODY genetic testing in Asian patients.
OBJECTIVE: The aim of this study is to report an alternative cerebrospinal fluid (CSF)-diversion method using image-guided ipsilateral trigonal ventriculostomy.
METHODS: Single-center retro- and prospective cohort study of n = 62 patients undergoing above-mentioned technique. Prior durotomy, CSF-diversion was performed to the point where the posterior fossa dura was visibly pulsatile. Outcome assessment consisted of the surgeon's intra- and postoperative clinical observations, and postoperative radiological imaging.
RESULTS: Fifty-two out of n = 62 (84%) cases were eligible for analysis. The surgeons consistently reported successful ventricular puncture and a pulsatile dura prior durotomy without cerebellar contusion, swelling or herniation through the dural incision in n = 51/52 (98%) cases. Forty-nine out of n = 52 (94%) catheters were placed correctly within the first attempt, with the majority of catheter tips (n = 50, 96%) located intraventricularly (grade 1 or 2). In n = 4/52 (8%) patients, postoperative imaging revealed evidence of a ventriculostomy-related hemorrhage (VRH) associated with an intracerebral hemorrhage [n = 2/52 (4%)] or an isolated intraventricular hemorrhage [n = 2/52 (4%)]. However, these hemorrhagic complications were not associated with neurological symptoms, surgical interventions or postoperative hydrocephalus. None of the evaluated patients demonstrated radiological signs of upward transtentorial herniation.
CONCLUSION: The method described above efficiently allows CSF-diversion prior durotomy to reduce cerebellar pressure during retrosigmoid approach for CPA tumors. However, there is an inherent risk of subclinical supratentorial hemorrhagic complications.
CONTENT: A scoping review examined the impact of heat and existing mitigation and adaptation responses for vulnerable populations in temperate regions, with a focus on A|NZ. Additionally, temperature trend analysis was conducted for current and projected trends using Climate CHIP for six major heat-affected cities in A|NZ to assess the recognition of heat as a societal concern.
SUMMARY AND OUTLOOK: The review identified mitigation and adaptation strategies for existing vulnerable groups and discovered other potential vulnerable groups in A|NZ, including Indigenous people (Māori), Pacific communities, low-income groups, migrants, and visitors. Temperature trends show an increasing pattern, suggesting heightened future heat-related impacts on these populations. This review reveals A|NZ's growing vulnerability to rising temperatures, particularly among high-risk groups, and calls for stronger mitigation and adaptation strategies to address future heat-health risks.
MATERIALS AND METHODS: ER+ MCF7 and ER- MDA-MB-231 cell lines were subjected to two-dimensional electrophoresis (2-DE) and spots of interest were identified by matrix-assisted laser desorption/ionization time of- flight/time- of-flight (MALDI-TOF/TOF) mass spectrometry (MS) analysis after downregulation of RhoGDIα using short interfering RNA (siRNA) and upregulated using GFP-tagged ORF clone of RhoGDIα.
RESULTS: The results showed a total of 35 proteins that were either up- or down-regulated in these cells. Here we identifed 9 and 15 proteins differentially expressed with silencing of RhoGDIα in MCF-7 and the MDA-MB-231 cells, respectively. In addition, 10 proteins were differentially expressed in the upregulation of RhoGDIα in MCF7, while only one protein was identified in the upregulation of RhoGDIα in MDA-MB-231. Based on the biological functions of these proteins, the results revealed that proteins involved in cell migration are more strongly altered with RhoGDI-α activity. Although several of these proteins have been previously indicated in tumorigenesis and invasiveness of breast cancer cells, some ohave not been previously reported to be involved in breast cancer migration. Hence, these proteins may serve as useful candidate biomarkers for tumorigenesis and invasiveness of breast cancer cells.
CONCLUSIONS: Future studies are needed to determine the mechanisms by which these proteins regulate cell migration. The combination of RhoGDIα with other potential biomarkers may be a more promising approach in the inhibition of breast cancer cell migration.