Evidence map›Paper›PMID 38943113›Full record

ArticleBMC medical genomics2024

Exploring the potential of genetic analysis in historical blood spots for patients with iodine-deficient goiter and thyroid carcinomas in Switzerland and Germany (1929-1989).

Janine Schulte, Gerhard Hotz, Gabor Szinnai, Emanuel Christ, Gaspare Foderà, Karl Krüsi, Peter Nussberger, Sarah Kron, Iris Schulz

Abstract readHistorical Article
In one paragraph

Article in BMC medical genomics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

9 authors.

Janine SchulteHealth Department Basel-Stadt, Institute of Forensic Medicine, University Basel, Pestalozzistrasse 22, Basel, 4056, Switzerland.
Gerhard HotzNatural History Museum Basel, Augustinergasse 2, Basel, 4001, Switzerland.
Gabor SzinnaiPediatric Endocrinology/Diabetology, University Children's Hospital Basel UKBB, University of Basel, Basel, 4056, Switzerland.
Emanuel ChristDivision of Endocrinology, Diabetology, Metabolism and Center of Endocrine and Neuroendocrine Tumors, University Hospital Basel, Basel, 4056, Switzerland.
Gaspare FoderàDocumentation Center, Municipal Administration, Riehen, 4125, Switzerland.
Karl KrüsiDocumentation Center, Municipal Administration, Riehen, 4125, Switzerland.
Peter NussbergerSurgery Department, Adullam Hospital, Riehen, 4125, Switzerland.
Sarah KronHealth Department Basel-Stadt, Institute of Forensic Medicine, University Basel, Pestalozzistrasse 22, Basel, 4056, Switzerland.
Iris SchulzHealth Department Basel-Stadt, Institute of Forensic Medicine, University Basel, Pestalozzistrasse 22, Basel, 4056, Switzerland. iris.schulz@bs.ch.ORCID 0000-0002-7933-2563

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Iodine deficiency-induced goiter continues to be a global public health concern, with varying manifestations based on geography, patient's age, and sex. To gain insights into clinical occurrences, a retrospective study analyzed medical records from patients with iodine deficiency-induced goiter or thyroid cancer who underwent surgery at the Community Hospital in Riehen, Switzerland, between 1929 and 1989. Despite today's adequate iodine supplementation, a significant risk for iodine-independent goiter remains in Switzerland, suggesting that genetic factors, among others, might be involved. Thus, a pilot study exploring the feasibility of genetic analysis of blood spots from these medical records was conducted to investigate and enhance the understanding of goiter development, potentially identify genetic variations, and explore the influence of dietary habits and other environmental stimuli on the disease.Blood prints from goiter patients' enlarged organs were collected per decade from medical records. These prints had been made by pressing, drawing, or tracing (i.e., pressed and drawn) the removed organs onto paper sheets. DNA analysis revealed that its yields varied more between the prints than between years. A considerable proportion of the samples exhibited substantial DNA degradation unrelated to sample collection time and DNA mixtures of different contributors. Thus, each goiter imprint must be individually evaluated and cannot be used to predict the success rate of genetic analysis in general. Collecting a large sample or the entire blood ablation for genetic analysis is recommended to mitigate potential insufficient DNA quantities. Researchers should also consider degradation and external biological compounds' impact on the genetic analysis of interest, with the dominant contributor anticipated to originate from the patient's blood.

Indexed as

GoiterIodineThyroid NeoplasmsAdultFemaleGermanyHistory, 20th CenturyHumansMaleMiddle AgedRetrospective StudiesSwitzerlandIodineDNA quantity and qualityFeasibility studyGenetic analysisGoiter imprintsHistorical dried blood spots

Identifiers

PMID38943113
PMCPMC11212273

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