The impact of genetic counselor involvement in genetic and genomic test order review: A scoping review.

Purpose: The increasing complexity of genetic technologies paired with more genetic tests being ordered by nongenetic healthcare providers, has resulted in an increase in the number of inappropriately ordered tests. Genetic counselors (GCs) are ideally suited to assess the appropriateness of a genetic test.

Methods: We performed a scoping review of GC involvement in utilization management initiatives in order to describe the impact of having GCs involved in this process.

Longitudinal Outcomes in Noonan Syndrome.

Purpose: Noonan syndrome and related disorders (NS) are multisystemic conditions affecting approximately 1:1000 individuals. Previous natural history studies were conducted prior to widespread comprehensive genetic testing. This study provides updated longitudinal natural history data in participants with molecularly confirmed NS.

Decoding brain structure to stage Alzheimer's disease pathology in Down syndrome.

Introduction: Alzheimer's disease (AD) in Down syndrome (DS) is associated with changes in brain structure. It is unknown if thickness and volumetric changes can identify AD stages and if they are similar to other genetic forms of AD.

Methods: Magnetic resonance imaging scans were collected for 178 DS adults (106 nonclinical, 45 preclinical, and 27 symptomatic).

Prospective validation study of a combined urine and plasma test for predicting high-grade prostate cancer in biopsy naïve men.

Objective: Early and accurate diagnosis of prostate cancer (PC) is crucial for effective treatment. Diagnosing  clinically insignificant cancers can lead to overdiagnosis and overtreatment, highlighting the importance of accurately selecting patients for further evaluation based on improved risk prediction tools. Novel biomarkers offer promise for enhancing this diagnostic process.

The relationships of plasma profenofos and ethanol concentrations to clinical outcome in acute profenofos self-poisoning.

Introduction: Many patients acutely self-poisoned with organophosphorus insecticides have co-ingested ethanol. Currently, profenofos 50% emulsifiable concentrate (EC50) is commonly ingested for self-harm in Sri Lanka. Clinical experience suggests that ethanol co-ingestion makes management more difficult.

Effects of antidiabetic agents on lipid metabolism of skeletal muscle: A narrative review.

Metabolic syndrome-related diseases frequently involve disturbances in skeletal muscle lipid metabolism. The accumulation of lipid metabolites, lipid-induced mitochondrial stress in skeletal muscle cells, as well as the inflammation of adjacent adipose tissue, are associated with the development of insulin resistance and metabolic dysfunction. Consequently, when antidiabetic medications are used to treat various chronic conditions related to hyperglycaemia, the impact on skeletal muscle lipid metabolism should not be overlooked.

Parental experiences of caring for their preschool children after declining vaccines: a qualitative systematic review.

Objective: This review synthesizes qualitative research about the experiences of parental caregivers enhancing their children's health after making the decision to not vaccinate their preschool children. This review aims to help health care providers understand the parental work involved in caring for under-vaccinated or unvaccinated children.

Introduction: Much of the current qualitative research literature about parents who are vaccine-hesitant or who decide not to vaccinate their children focuses on parental perceptions about the safety and efficacy of vaccines and decision-making.

Immunohistochemical Expression of PAX8 in Central Nervous System Hemangioblastomas: A Potential Diagnostic Pitfall for Neuropathologists.

The histologic differential diagnosis between intracranial hemangioblastoma (HB) and metastatic clear cell renal cell carcinoma may be challenging, especially considering that both tumors exhibit clear cell morphology and can be associated with vHL mutation and/or Von Hippel-Lindau syndrome. As the execution of immunohistochemical analyses is often mandatory, the expression of PAX8 has been traditionally considered a reliable marker of metastatic clear cell renal cell carcinoma, being consistently negative in intracranial HB. However, as in recent years, some cases of PAX8-positive HBs have been reported in the literature; we studied the expression of this antibody on a series of 23 intracranial HB, showing that about 40% of these tumors may express PAX8 and that this immunoreactivity is often focal and weak.

Experiences of African women who migrate to a developed country and encounter intimate partner violence: a systematic review of qualitative evidence.

Objective: The objective of this review was to synthesize the available evidence on the experiences of African women who migrated to a developed country and encountered intimate partner violence (IPV).

Introduction: IPV is a significant public health issue, and migrant women living in developed countries are particularly vulnerable to IPV, experiencing disproportionately higher rates of IPV. Understanding the experiences of these women can inform health policy and decision-making in clinical practice to minimize IPV.

Comparison of Recruitment Method on Clinical Outcomes Following Cervical Disc Arthroplasty.

Study Design: Retrospective cohort.

Objective: To compare the clinical outcomes of trial versus standard clinical practice (SCP) patients following cervical disc arthroplasty (CDA).

Background: CDA is hypothesized to reduce the shear strain and related complications resulting from fusion procedures.

Glucose Transporter 1 Deficiency Impairs Glucose Metabolism and Barrier Induction in Human Induced Pluripotent Stem Cell-Derived Astrocytes.

Glucose is a major source of energy for the brain. At the blood-brain barrier (BBB), glucose uptake is facilitated by glucose transporter 1 (GLUT1). GLUT1 Deficiency Syndrome (GLUT1DS), a haploinsufficiency affecting SLC2A1, reduces glucose brain uptake.

Increased SOX10, p16, and Cyclin D1 Immunoreactivity Differentiates MAP Kinase-activated Low-grade Gliomas From Piloid Gliosis.

Low-grade gliomas and reactive piloid gliosis can present with overlapping features on conventional histology. Given the large implications for patient treatment, there is a need for effective methods to discriminate these morphologically similar but clinically distinct entities. Using routinely available stains, we hypothesize that a limited panel including SOX10, p16, and cyclin D1 may be useful in differentiating mitogen-activated protein (MAP) kinase-activated low-grade gliomas from piloid gliosis.

Cerebellar infarction due to atlantoaxial subluxation in spondyloepimetaphyseal dysplasia-joint laxity type 1 case.

Introduction: Spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMD-JL1) is an extremely rare skeletal dysplasia belonging to a group of disorders called linkeropathies. It is characterized by skeletal and connective tissue abnormalities. Biallelic variants in genes encoding enzymes that synthesize the tetrasaccharide linker region of glycosaminoglycans lead to linkeropathies, which exhibit clinical and phenotypic features that overlap with each other.

Identification of IGFBP3 and LGALS1 as potential secreted biomarkers for clear cell renal cell carcinoma based on bioinformatics analysis and machine learning.

Background: Clear cell renal cell carcinoma (ccRCC) is the most common subtype of renal cell carcinoma (RCC). Due to the lack of symptoms until advanced stages, early diagnosis of ccRCC is challenging. Therefore, the identification of novel secreted biomarkers for the early detection of ccRCC is urgently needed.

Peptide pool instability of precancerous lesions in rats with chronic pancreatitis model and/or without type 1 diabetes mellitus.

Background: The search for early and minimally invasive diagnostic approaches to pancreatic cancer (PC) remains an important issue. One of the most promising directions is to find a sensitive key in the metabolic changes during widespread causes of PC, i.e.

Experience with sodium glucose cotransporter-2 inhibitors in adult patients with Fontan circulation.

Background: We still know little about the effective pharmacological treatment of heart failure (HF) associated with the Fontan circulation. One of the new options may be sodium glucose cotransporter-2 inhibitors (SGLT2i), which have been proven effective in classic forms of left ventricular HF.

Objectives: To evaluate the effect and safety of SGLT2i inclusion in adults with Fontan circulation.

Biallelic variants in AGRN with recurrent pregnancy losses in a family with a fetal akinesia deformation sequence.

Introduction: Agrin, encoded by AGRN, plays a vital role in the acetylcholine receptor clustering pathway, and any defects in this pathway are known to cause congenital myasthenic syndrome (CMS) 8 in early childhood with variable fatigable muscle weakness. The most severe or lethal form of CMS manifests as a fetal akinesia deformation sequence (FADS). To date, only one family has been reported with an association of null variants in AGRN and a lethal FADS.

Lateralization of Neural Speech Discrimination at Birth Is a Predictor for Later Language Development.

Newborns are able to neurally discriminate between speech and nonspeech right after birth. To date it remains unknown whether this early speech discrimination and the underlying neural language network is associated with later language development. Preterm-born children are an interesting cohort to investigate this relationship, as previous studies have shown that preterm-born neonates exhibit alterations of speech processing and have a greater risk of later language deficits.

Minimally Invasive vs Open Surgery for Thoracolumbar Fractures Treatment: A Meta-analysis of Randomized Controlled Trials and Prospective Studies.

Study Design: Meta-Analysis.

Objective: The purpose of this systematic review and meta-analysis was to pool the available data comparing MIS to open surgery for thoracolumbar fractures and provide a more comprehensive assessment on this topic.

Background: There remains a debate over whether minimally invasive surgery (MIS) or open fixation provides superior outcomes for patients with thoracolumbar fractures.

Deficient Mismatch Repair and BRAF Mutations in Metastatic Colorectal Cancer in the South Island of New Zealand.

Aim: Manatū Hauora, the Ministry of Health of New Zealand (NZ), published minimum standards for molecular testing of colorectal cancers (CRCs) in June 2018. These included mismatch repair (MMR) testing at diagnosis and BRAFV600E mutation analysis on newly diagnosed stage IV CRCs. This study aimed to determine the proportion of patients with CRC in the South Island of NZ with metastatic deficient mismatch repair (dMMR) CRC, the proportion of metastatic CRCs and dMMR CRCs that have a BRAFV600E mutation, and audit testing for BRAF mutations and appropriate referral to genetics services.

Unraveling the transcriptomic landscape of brain vascular cells in dementia: A systematic review.

Introduction: Cerebrovascular dysfunction plays a critical role in the pathogenesis of dementia and related neurodegenerative disorders. Recent omics-driven research has revealed associations between vascular abnormalities and transcriptomic alterations in brain vascular cells, particularly endothelial cells (ECs) and pericytes (PCs). However, the impact of these molecular changes on dementia remains unclear.

Shape-Dependent Structural Order of Red Blood Cells.

In this work, we show how shape matters for the ordering of red blood cells (RBCs) at a water-air interface for both artificially rigidified and sphered cells as a model system for hereditary spherocytosis. We report enhanced long-range order for spherical RBCs over disk-shaped RBCs arising from the increased local ordering of spheres relative to disks. We show that rigidity has a greater effect on the radial distribution of spherical vs disk-shaped RBCs by slightly increasing the average distance between cells.