Molecular autopsy for fetal structural anomaly: diagnostic and clinical utility of multidisciplinary team approach.

OBJECTIVE: In the West Midlands regional genetics service, cases of perinatal death with a possible genetic diagnosis are evaluated by the perinatal pathology genetic multidisciplinary team (MDT). The MDT assesses autopsy findings and suggests appropriate genomic assessment. The objective of this retrospective service evaluation was to determine the clinical utility of the MDT in assessing perinatal deaths associated with structural anomaly. This is the first evaluation since the introduction of whole-genome and whole-exome sequencing in routine clinical care. METHODS: This was a retrospective service evaluation including all cases of perinatal death with an associated structural anomaly and suspected genetic etiology that underwent perinatal MDT assessment between January and December 2021. All cases received a full or partial postmortem examination and at least a chromosomal microarray analysis. Demographic characteristics, phenotype, genotype, MDT recommendations, diagnoses, outcomes and impact of postmortem analysis and genetic testing data were collected from patient case notes. RESULTS: Overall, 123 cases were discussed at the MDT meetings in 2021. Genetic evaluation was recommended in 84 cases and accepted in 64 cases. A range of genetic tests were requested according to indication and availability. Thirty diagnoses were made in 29 cases from 26 unrelated families. The diagnostic yield was 24% (29/123) in all cases or 45% (29/64) in cases with a suspected genetic diagnosis who underwent genetic testing. Postmortem examination provided clinically actionable phenotypic data in 79% of cases. A genetic diagnosis enabled accurate recurrence risk counseling and provision of appropriate follow-up, including prenatal testing and preimplantation diagnosis for patients with inherited conditions. CONCLUSIONS: Genomic testing was a clinically useful addition to (but not a substitute for) postmortem examination in cases of perinatal death associated with structural anomaly. The MDT approach helped assess cases and plan appropriate follow-up. Expedited whole-genome sequencing or panel-agnostic analysis were most appropriate for heterogeneous presentations. This broad approach can also expand knowledge of prenatal phenotypes and detect novel disease genes, and should be a priority in future research. © 2024 International Society of Ultrasound in Obstetrics and Gynecology.

Remote monitoring of blood pressure to reduce the risk of preeclampsia related complications with an innovative use of mobile technology.

OBJECTIVE: Assess suitability of remote self-monitoring of blood pressure with an innovative use of technology in detecting raised blood pressure in pregnancy. STUDY DESIGN: Assess ease of use and safety of the newly developed kit which included a Bluetooth enabled blood pressure machine and an android based mobile phone. The phone was modified to have only one application in it which showed the blood pressure readings with a traffic light system. The study was a proof of concept for wider use of the kit. We provided 50 women who were admitted with the kit. We assessed ease of use of the blood pressure machine and accuracy of readings including remote transfer to a computer. MAIN OUTCOME MEASURE: Technological feasibility and acceptance by women. RESULTS: The technology provides accurate data and visual cues including safe remote transfer instantaneously. 90% of the women agreed that the Kit was simple to use and 78% would prefer this model of testing at home. CONCLUSION: In a relatively resource rich setting the machine can reduce the number of patient visits for women who are at risk for preeclampsia. In resource poor settings it helps to triage resources to women who need it the most. It also is a valuable tool for research. Studies of the Kit in both developed and developing world will be needed to show reduction in perinatal and maternal morbidity or mortality secondary to preeclampsia.

Four multistate outbreaks of human Salmonella infections associated with live poultry contact, United States, 2009.

Outbreaks of human salmonellosis associated with live poultry contact have been reported since 1955. Multiple Salmonella serotypes have been associated with these outbreaks, and specific outbreak strains have been repeatedly linked to single hatcheries over multiple years. During 2009, four multistate outbreaks of human Salmonella infections associated with direct and indirect exposure to live poultry purchased from mail-order hatcheries and agricultural feed stores were identified, resulting in 165 culture-confirmed cases in 30 states. This report describes the epidemiologic, environmental and laboratory investigations conducted by state and local health departments, state departments of agriculture, the U.S. Department of Agriculture (USDA), Animal and Plant Health Inspection Service (APHIS), National Poultry Improvement Plan (NPIP) and National Veterinary Services Laboratories (NVSL), and the Centers for Disease Control and Prevention (CDC). Case-patients were identified through PulseNet, the national molecular subtyping network for foodborne disease surveillance, and interviewed using the CDC standard live poultry contact questionnaire that asks about poultry-related exposures during the 7 days before illness onset. These outbreaks highlight the need to focus efforts on strategies to decrease and prevent human illness associated with live poultry contact through comprehensive interventions at the mail-order hatchery, agricultural feed store and consumer levels. Additional consumer education and interventions at mail-order hatcheries and venues where live poultry are sold, including agricultural feed stores, are necessary to prevent transmission of Salmonella from poultry to humans.

A comparison of teaching strategies for integrating information technology into clinical nursing education.

As health care becomes more information-intensive and diverse, there is a need to integrate information technology (IT) into clinical education. Little is known, however, about how to design instructional strategies for integrating information technology into clinical nursing education. This article outlines the instructional strategies used by faculty in five nursing programs who taught students to use a point-of-care information technology system. The article also reports students' computer acceptance and summarizes IT clinical teaching recommendations.

One nurse's experience with technology.

This article examines the positive and negative aspects of working with a documentation and information management system from the unique perspective of a practicing home care nurse who was also a student. Aspects of the nightingale tracker technology that are comparable with others used in home care, experiences of field testing, and the nurse's observations can help home care nurses see how this technology can benefit their practice.

Studies of intracellular distribution of acid phosphatase 5 in the spleen cells of leukemic reticuloendotheliosis by isopycnic gradient centrifugation.

A fresh spleen sample obtained from a patient with leukemic reticuloendotheliosis was homogenized and subjected to centrifugation on a sucrose density gradient. A major portion of acid phosphatase band 5 was observed in the lysosome, confirming that the elevated phosphatase activity in the neoplastic spleen is a lysosomal enzyme. However, a significant amount of brand 5 was also observed in the microsome. The microsomal and lysosomal enzymes have different affinity to CM-cellulose. The relationship between lysosomal and microsomal enzymes has not been established.