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Related Concept Videos

Human Genetics01:28

Human Genetics

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Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
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Hypoglycemia and Glucagon01:15

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Without prolonged fasting, healthy individuals maintain blood glucose levels above 3.5 mM due to a well-adapted neuroendocrine counterregulatory system that effectively prevents acute hypoglycemia, a potentially life-threatening condition. The primary clinical scenarios for hypoglycemia encompass diabetes treatment, inappropriate production of endogenous insulin or insulin-like substances by tumors, and the use of glucose-lowering agents in non-diabetic individuals. Notably, hypoglycemia in the...
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Insulin: Dosing Regimen and Adverse Effects01:16

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Insulin-replacement therapy usually includes both long-acting insulin (basal) and short-acting insulin (to cater to postprandial needs). In a diverse group of type 1 diabetes patients, the average daily insulin dose is typically 0.5-0.7 units/kg body weight. However, obese patients and pubertal adolescents may need more due to insulin resistance.
The basal dose constitutes about 40%-50% of the total daily dose, with the rest as premeal insulin. The mealtime insulin dose should mirror...
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Endocrine Signaling01:45

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Endocrine cells produce hormones to communicate with remote target cells found in other organs. The hormone reaches these distant areas using the circulatory system. This exposes the whole organism to the hormone but only those cells expressing hormone receptors or target cells are affected. Thus, endocrine signaling induces slow responses from its target cells but these effects also last longer.
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FISH for Pre-implantation Genetic Diagnosis
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A practical guide to genetic testing in endocrinology.

Louise Izatt1, Martina M Owens2, Heather Pierce3

  • 1Department of Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London, UK.

Clinical Endocrinology
|September 16, 2021
PubMed
Summary

Genomic testing is crucial for diagnosing endocrine conditions early, guiding patient care. This review offers practical guidance on accessing and interpreting these tests within England's Genomic Medicine Service.

Keywords:
Genomic Medicine Servicegenetic counsellinggenomic testinginformed consentnext-generation sequencingrare diseasevariant interpretation

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Area of Science:

  • Endocrinology
  • Genomics
  • Clinical Genetics

Background:

  • Advances in sequencing technology enhance understanding of endocrine conditions' molecular basis.
  • Genomic testing is increasingly integrated into clinical practice for rare diseases.
  • Early genetic diagnosis directs patient care and specialized management.

Purpose of the Study:

  • Provide practical guidance on accessing genomic testing for endocrine diseases in England.
  • Explain how to interpret and communicate genomic test results.
  • Detail the role of genetic counseling in integrating genomic findings into patient care.

Main Methods:

  • Review of current practices and guidelines for genomic testing in England.
  • Discussion of the National Genomic Test Directory and Genomic Laboratory Hubs.
  • Illustration with a clinical scenario of inherited endocrine neoplasia.

Main Results:

  • Genomic testing, often using next-generation sequencing, analyzes multiple genes simultaneously.
  • Test results can include pathogenic findings, variants of unknown significance, or incidental findings.
  • Informed consent and clear communication of results are essential steps.

Conclusions:

  • Integrating genomic testing into routine endocrine care requires effective result delivery and post-test genetic counseling.
  • The Genomic Medicine Service in England facilitates access to genetic testing for rare and inherited diseases.
  • Understanding genomic testing processes is key for endocrinologists and patients.