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Whole genome SNP array of 32 look-alike human couples

ABSTRACT: The Illumina Infinium HumanOmni5-Quad BeadChip was used to obtain genomewide SNP profiling of 32 human couples (64 individuals), selected by their facial resemblance.

ORGANISM(S): Homo sapiens

PROVIDER: GSE167910 | GEO | 2022/08/23

REPOSITORIES: GEO

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Whole genome SNP array of 16 look-alike human couples

Project description:The Illumina Infinium HumanOmni5-Quad BeadChip was used to obtain genomewide SNP profiling of 16 human couples (32 individuals), selected by their facial resemblance.

2022-08-23 | GSE142300 | GEO

Epigenetic profiling of 16 look-alike human couples

Project description:The Illumina Infinium MethylationEPIC Beadchip was used to obtain genomewide methylation profiles of 16 human couples (32 individuals), selected by their facial resemblance.

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Whole genome SNP array of 32 look-alike human couples

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Project description:Epigenetic profiling of 16 look-alike human couples

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Whole genome SNP array of 16 look-alike human couples

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Whole genome SNP array and epigenetic profiling of 16 look-alike human couples

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Whole genome SNP array and epigenetic profiling of 16 look-alike human couples

Project description:This SuperSeries is composed of the SubSeries listed below.

2022-08-23 | GSE142304 | GEO

Evaluating the Potential Severity of Look-Alike, Sound-Alike Drug Substitution Errors in Children.

Project description:ObjectiveLook-alike, sound-alike (LASA) drug name substitution errors in children may pose potentially severe consequences. Our objective was to determine the degree of potential harm pediatricians ascribe to specific ambulatory LASA drug substitution errors.MethodsWe developed a unified list of LASA pairs from published sources, removing selected drugs on the basis of preparation type (eg, injectable drugs). Using a modified Delphi method over 3 rounds, 38 practicing pediatricians estimated degree of potential harm that might occur should a patient receive the delivered drug in error and the degree of potential harm that might occur from not receiving the intended drug.ResultsWe identified 3550 published LASA drug pairs. A total of 1834 pairs were retained for the Delphi surveys, and 608 drug pairs were retained for round 3. Final scoring demonstrated that participants were able to identify pairs where the substitutions represented high risk of harm for receiving the delivered drug in error (eg, did not receive methylphenidate/received methadone), high risk of harm for not receiving the intended drug (eg, did not receive furosemide/received fosinopril), and pairs where the potential harm was high from not receiving the intended drug and from erroneously receiving the delivered drug (eg, did not receive albuterol/received labetalol).ConclusionsPediatricians have identified LASA drug substitutions that pose a high potential risk of harm to children. These results will allow future efforts to prioritize pediatric LASA errors that can be screened prospectively in outpatient pharmacies.

| S-EPMC4852303 | biostudies-literature

Promoter DNA methylation couples genome-defense mechanisms to epigenetic reprogramming in the mouse germline

Project description:This SuperSeries is composed of the following subset Series: GSE38305: Promoter DNA methylation couples genome-defense mechanisms to epigenetic reprogramming in the mouse germline (part 1) GSE38306: Promoter DNA methylation couples genome-defence mechanisms to epigenetic reprogramming in the mouse germline (part 2) Refer to individual Series

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A case report of transthyretin amyloidosis following cardiac transplantation: thick ventricles that look alike.

Project description:BackgroundTransthyretin (ATTR) amyloidosis is more prevalent than initially thought. As much as 13% of patients hospitalized with heart failure with preserved ejection fraction may have ATTR-cardiomyopathy (CM). Conversely, heart transplant patients may manifest left ventricular hypertrophy or diastolic dysfunction, especially late after transplantation.Case summaryWe present a case of a 82-year-old male heart transplant patient, 31 years following orthotopic heart transplantation. While he was satisfied with his exercise capacity as an octogenarian, several years before, he required pacemaker implantation due to third-degree atrioventricular block, had bilateral carpal tunnel syndrome treated with carpal tunnel release surgery, and experienced idiopathic sudden deafness. Based on increasing left ventricular wall thickness during routine follow-up, a diagnosis of ATTR amyloidosis was suspected. Ultimately, the diagnosis was confirmed non-invasively with a specific scintigraphic exam, while an additional physicochemical stain on an endomyocardial biopsy taken several years before provided pathological proof. We initiated tafamidis, yet stopped this treatment after 1 month because of gastrointestinal intolerance. Ultimately, our patient died 2 years later due to heart failure.DiscussionOur case shows the long delay between the onset of ATTR deposition, the presence of clinical signs, and the final diagnosis. Echocardiographic findings suggestive for ATTR-CM include left ventricular hypertrophy and diastolic dysfunction, which are both common in heart transplant patients. Yet, ATTR-CM should be considered in the differential diagnosis, especially late after transplantation, in this closely monitored population.

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