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The uptake of lipid into French fries was investigated using two varieties of potato ('Russet Burbank' and 'Agria') and the New Zealand sweet potato, Ipomoea batatas, (kumara). The variety of potato used had a significant effect on lipid uptake, with 'Agria' having the lowest lipid content. The different cellular structures may have affected the fat uptake in the French fries by influencing either the loss of moisture during finish-frying or the damage done to the original anatomy during processing before pre-frying. The French fries that had undergone frozen storage had a higher amount of lipid contained in their inner core than did those that had been either chilled or prepared freshly for frying. [ABSTRACT FROM AUTHOR]

Background: Genomic sequencing technology allows for identification of reproductive couples with an increased chance, as compared with that in the general population, of having a child with an autosomal recessive or X-linked genetic condition., Methods: We investigated the feasibility, acceptability, and outcomes of a nationwide, couple-based genetic carrier screening program in Australia as part of the Mackenzie's Mission project. Health care providers offered screening to persons before pregnancy or early in pregnancy. The results obtained from testing at least 1281 genes were provided to the reproductive couples. We aimed to ascertain the psychosocial effects on participants, the acceptability of screening to all participants, and the reproductive choices of persons identified as having an increased chance of having a child with a condition for which we screened., Results: Among 10,038 reproductive couples enrolled in the study, 9107 (90.7%) completed screening, and 175 (1.9%) were newly identified as having an increased chance of having a child with a genetic condition for which we screened. These conditions involved pathogenic variants in 90 different genes; 74.3% of the conditions were autosomal recessive. Three months after receiving the results, 76.6% of the couples with a newly identified increased chance had used or planned to use reproductive interventions to avoid having an affected child. Those newly identified as having an increased chance had greater anxiety than those with a low chance. The median level of decisional regret was low in all result groups, and 98.9% of participants perceived screening to be acceptable., Conclusions: Couple-based reproductive genetic carrier screening was largely acceptable to participants and was used to inform reproductive decision making. The delivery of screening to a diverse and geographically dispersed population was feasible. (Funded by the Medical Research Future Fund of the Australian government; ClinicalTrials.gov number, NCT04157595.)., (Copyright © 2024 Massachusetts Medical Society.)

School mental health (SMH) teams have been widely recommended to support multi-tiered mental health program implementation in schools. Available research suggests emerging best practices that promote effective SMH teaming and indicates the importance of having team members who are highly engaged (e.g., actively involved, retained on the team). Despite evidence that these factors improve team functioning, there is limited knowledge of SMH team prevalence, best practice use, and factors impacting member engagement among a diverse sample of elementary schools. This study surveyed a cross-sectional sample of elementary principals ( n = 314) across the United States whose schools implement multi-tiered SMH programs. Most principals (89%, n = 280) reported using teams to organize these programs. Schools in urban/suburban communities, with 300 or more students, or with specific school funding for SMH activities were more likely to have SMH teams. Only one-third of principals reported that their team members participated in related training. Other SMH team best practices were commonly reported (by two-thirds or more teams). Results of a linear regression model indicate that larger teams (six or more members) and teams with access to resources had significantly higher member engagement scores. The study's findings provide recommendations for practice and future research directions.

Objective: Variants in GABRA1 have been associated with a broad epilepsy spectrum, ranging from genetic generalized epilepsies to developmental and epileptic encephalopathies. However, our understanding of what determines the phenotype severity and best treatment options remains inadequate. We therefore aimed to analyze the electroclinical features and the functional effects of GABRA1 variants to establish genotype-phenotype correlations., Methods: Genetic and electroclinical data of 27 individuals (22 unrelated and 2 families) harboring 20 different GABRA1 variants were collected and accompanied by functional analysis of 19 variants., Results: Individuals in this cohort could be assigned into different clinical subgroups based on the functional effect of their variant and its structural position within the GABRA1 subunit. A homogenous phenotype with mild cognitive impairment and infantile onset epilepsy (focal seizures, fever sensitivity, and electroencephalographic posterior epileptiform discharges) was described for variants in the extracellular domain and the small transmembrane loops. These variants displayed loss-of-function (LoF) effects, and the patients generally had a favorable outcome. A more severe phenotype was associated with variants in the pore-forming transmembrane helices. These variants displayed either gain-of-function (GoF) or LoF effects. GoF variants were associated with severe early onset neurodevelopmental disorders, including early infantile developmental and epileptic encephalopathy., Interpretation: Our data expand the genetic and phenotypic spectrum of GABRA1 epilepsies and permit delineation of specific subphenotypes for LoF and GoF variants, through the heterogeneity of phenotypes and variants. Generally, variants in the transmembrane helices cause more severe phenotypes, in particular GoF variants. These findings establish the basis for a better understanding of the pathomechanism and a precision medicine approach in GABRA1-related disorders. Further studies in larger populations are needed to provide a conclusive genotype-phenotype correlation. ANN NEUROL 2023., (© 2023 American Neurological Association.)

Sharing genomic variant interpretations across laboratories promotes consistency in variant assertions. A landscape analysis of Australian clinical genetic-testing laboratories in 2017 identified that, despite the national-accreditation-body recommendations encouraging laboratories to submit genotypic data to clinical databases, fewer than 300 variants had been shared to the ClinVar public database. Consultations with Australian laboratories identified resource constraints limiting routine application of manual processes, consent issues, and differences in interpretation systems as barriers to sharing. This information was used to define key needs and solutions required to enable national sharing of variant interpretations. The Shariant platform, using both the GRCh37 and GRCh38 genome builds, was developed to enable ongoing sharing of variant interpretations and associated evidence between Australian clinical genetic-testing laboratories. Where possible, two-way automated sharing was implemented so that disruption to laboratory workflows would be minimized. Terms of use were developed through consultation and currently restrict access to Australian clinical genetic-testing laboratories. Shariant was designed to store and compare structured evidence, to promote and record resolution of inter-laboratory classification discrepancies, and to streamline the submission of variant assertions to ClinVar. As of December 2021, more than 14,000 largely prospectively curated variant records from 11 participating laboratories have been shared. Discrepant classifications have been identified for 11% (28/260) of variants submitted by more than one laboratory. We have demonstrated that co-design with clinical laboratories is vital to developing and implementing a national variant-interpretation sharing effort. This approach has improved inter-laboratory concordance and enabled opportunities to standardize interpretation practices., Competing Interests: Declaration of interests The authors declare no competing interests., (Copyright © 2022 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.)

Background: Despite EU regulatory standards, many workers suffer injury as a result of working with hand-held vibrating tools. Our aim of this study was to confirm whether carpenters, a highly exposed group, suffer more injuries to their hands than painters, a group assumed to be less exposed to vibration., Methods: 193 carpenters (participation rate 100%) and 72 painters (participation rate 67%), all men, answered a questionnaire and underwent a clinical examination to identify manifestations of neural and vascular origin in the hands. Neurosensory affection was defined as having at least one symptom in the fingers/hands (impaired perception of touch, warmth, or cold, impaired dexterity, increased sensation of cold, numbness or tingling, or pain in the fingers/hands when cold) and at least one clinical finding (impaired perception of touch, warmth, cold, vibration, or two-point discrimination). Logistic regression was used to calculate odds ratios (OR) and 95% confidence intervals (CI)., Results: Neurosensory affection was fulfilled for 31% of the carpenters and 17% of the painters, age-adjusted OR 3.3 (CI 1.6-7.0). Among carpenters with neurosensory affection 18% reported interference with daily life activities, the most common symptoms being increased sensation of cold, numbness and pain in the fingers/hands when cold, the most common clinical findings were impaired perception of touch and vibration. Neurosensory affection was found in 12% of young carpenters (≤ 30 years old). No difference was found in the prevalence of white fingers between carpenters and painters., Conclusions: Carpenters showed more symptoms and clinical findings of neurosensory affection than painters, probably due to vibration exposure. Also young carpenters showed signs of neurosensory affection, which indicates that under current conditions workers at these companies are not protected against injury. This underlines the importance of reducing exposure to vibration and conducting regular medical check-ups to detect early signs of neural and vascular manifestations indicating hand-arm vibration injuries. Special attention should be given to symptoms of increased sensation of cold, pain in the fingers when cold, and numbness, as these were the most common initiating ones, and should be addressed as early as possible in the preventive sentinel process. It is also important to test clinically for small- and large-fibre neuropathy, as the individual may be unaware of any pathology.

Genetic testing in nephrology clinical practice has moved rapidly from a rare specialized test to routine practice both in pediatric and adult nephrology. However, clear information pertaining to the likely outcome of testing is still missing. Here we describe the experience of the accredited Australia and New Zealand Renal Gene Panels clinical service, reporting on sequencing for 552 individuals from 542 families with suspected kidney disease in Australia and New Zealand. An increasing number of referrals have been processed since service inception with an overall diagnostic rate of 35%. The likelihood of identifying a causative variant varies according to both age at referral and gene panel. Although results from high throughput genetic testing have been primarily for diagnostic purposes, they will increasingly play an important role in directing treatment, genetic counseling, and family planning.

Purpose: Ocular anterior segment disorders (ASDs) are clinically and genetically heterogeneous, and genetic diagnosis often remains elusive. In this study, we demonstrate the value of a combined analysis protocol using phenotypic, genomic, and pedigree structure data to achieve a genetic conclusion., Methods: We utilized a combination of chromosome microarray, exome sequencing, and genome sequencing with structural variant and trio analysis to investigate a cohort of 41 predominantly sporadic cases., Results: We identified likely causative variants in 54% (22/41) of cases, including 51% (19/37) of sporadic cases and 75% (3/4) of cases initially referred as familial ASD. Two-thirds of sporadic cases were found to have heterozygous variants, which in most cases were de novo. Approximately one-third (7/22) of genetic diagnoses were found in rarely reported or recently identified ASD genes including PXDN, GJA8, COL4A1, ITPR1, CPAMD8, as well as the new phenotypic association of Axenfeld-Rieger anomaly with a homozygous ADAMTS17 variant. The remainder of the variants were in key ASD genes including FOXC1, PITX2, CYP1B1, FOXE3, and PAX6., Conclusions: We demonstrate the benefit of detailed phenotypic, genomic, variant, and segregation analysis to uncover some of the previously "hidden" heritable answers in several rarely reported and newly identified ocular ASD-related disease genes.

The aim of this study is to evaluate the cost savings of 3 years of telecardiology used in a prison. This study compares the cost per visit of providing cardiology services by telemedicine (telecardiology) to patients at Powhatan Correctional Center of the Virginia Department of Corrections (PCC) and the cost of providing traditional cardiology services at the cardiology clinic of the Medical College of Virginia Campus of Virginia Commonwealth University (MCV Campus). During 1996 to 1998, telecardiology visits increased from 24 per year to 86. In this study, lower use of telecardiology services in 1996 resulted in higher cost per visit of $189. This was $45 more than the cost of traditional cardiology in the cardiology clinic at the MCV Campus. In 1997 and 1998, however, higher utilization of telecardiology services decreased the cost per visit to $135 and $132, respectively. This resulted in a cost saving with telecardiology of $15 per visit in 1997 and $46 per visit in 1998. Because the vast proportion of telemedicine operating costs are fixed, increased utilization causes reduced cost per visit and results in a cost saving compared with providing these services via a non-telemedicine program.

Objective: To present the follow-up findings to a cost-benefit analysis of telemedicine subspecialty services provided between the Powhatan Correctional Center (PCC) of the Virginia Department of Corrections and the Medical College of Virginia Campus of Virginia Commonwealth University (MCV Campus)., Methods: Costs included those of operating the telemedicine system, transportation, litigation avoidance, and the medical care itself., Results: Over a 12-month study period, the total number of consults completed through telemedicine was 290. The cost per visit of treating inmates at the MCV Campus clinics was $401. The cost per visit of treating inmates at PCC via telemedicine was $387, a net saving of $14 per visit with the use of telemedicine., Conclusion: As a result of implementing telemedicine, the Department of Corrections for the State of Virginia was able to achieve a cost saving of $14 per visit. Nonmonetary cost savings, such as greater security and increased access to care, should be considered a net benefit as well.

Gram-negative sepsis contributes significantly to neonatal morbidity and mortality. Gentamicin is an aminoglycoside antibiotic used in the treatment of gram-negative infections. However, developmental differences of the neonate (compared with the older child or adult) influence the drug's disposition in the body. Administration, distribution, elimination, as well as susceptibility to toxicities may be altered in the neonatal period because of these pharmacokinetic differences. A literature review reveals pharmacokinetic differences of the neonate that affect gentamicin dosing. Nursing considerations affected by the developmental differences of the neonate include knowing appropriate dosages and routes of administration, pathophysiological and pharmacological conditions that affect gentamicin disposition, serum monitoring, and evaluation of adverse reactions and toxicities.