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Related Concept Videos

Hypoglycemia and Glucagon01:15

Hypoglycemia and Glucagon

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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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Hypoglycemia01:26

Hypoglycemia

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Hypoglycemia is a blood glucose level below 70 mg/dL. It commonly occurs in individuals using insulin or insulin-secreting drugs, but may also arise in non-diabetic conditions. People with type 1 diabetes are at the highest risk because they depend on exogenous insulin. People with type 2 diabetes are also at risk, especially when treated with insulin or medications such as sulfonylureas, which increase insulin release regardless of blood glucose levels. It develops when insulin levels exceed...
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Hyperglycemia01:29

Hyperglycemia

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Hyperglycemia is an abnormally high blood glucose level. It is diagnosed by fasting glucose ≥126 mg/dL, 2-hour oral glucose tolerance test (or OGTT) ≥200 mg/dL, random glucose ≥200 mg/dL with symptoms, or HbA1c ≥6.5%. However, HbA1c results may be unreliable in certain conditions, such as anemia or hemoglobinopathies, and the diagnosis should be confirmed unless classic symptoms are present. Postprandial hyperglycemia is typically considered significant when glucose...
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Diabetic Ketoacidosis l: Introduction01:25

Diabetic Ketoacidosis l: Introduction

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DefinitionDiabetic ketoacidosis (DKA) is an acute, life-threatening complication of diabetes mellitus, characterized by a triad of hyperglycemia (blood glucose >250 mg/dL), ketonemia or ketonuria, and metabolic acidosis (arterial pH <7.30 and serum bicarbonate <18 mEq/L). It results from insulin deficiency combined with elevated levels of counterregulatory hormones—glucagon, catecholamines, cortisol, and growth hormone—leading to increased lipolysis, hepatic...
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Diabetic Ketoacidosis ll: Pathophysiology01:22

Diabetic Ketoacidosis ll: Pathophysiology

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Diabetic ketoacidosis (DKA) is a metabolic emergency characterized by hyperglycemia, ketonemia, and metabolic acidosis. It results from severe insulin deficiency and an excess of counterregulatory hormones, leading to uncontrolled lipolysis, ketogenesis, and widespread electrolyte and fluid disturbances.Pathophysiology The central event in DKA is a profound loss of insulin action. Without insulin, glucose uptake in insulin-dependent tissues is impaired, while hepatic glucose production...
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SBAR II: Application of SBAR01:14

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SBAR is an effective communication tool used by healthcare professionals to communicate patient information accurately. SBAR stands for Situation, Background, Assessment, and Recommendation. For a better understanding, an example is given below.
SBAR Report from a Nurse to a Health Care Provider
S: "Hello, Dr. Smith. This is Jane, RN, from the Med Surg unit. I am calling to tell you about Ms. White in Room 210, who is experiencing increased pain and redness at her incision site. Her recent...
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Hypoglycemia in Kabuki syndrome.

Anbezhil Subbarayan1, Khalid Hussain

  • 1Department of Pediatric Endocrinology, Great Ormond Street Hospital, London, UK.

American Journal of Medical Genetics. Part A
|December 7, 2013
PubMed
Summary

Kabuki syndrome (KS) can cause persistent hypoglycemia, a serious condition requiring early recognition. This study highlights various causes of hypoglycemia in KS patients and suggests a link between the MLL2 gene and glucose regulation.

Keywords:
Kabuki syndromegrowth hormone deficiencyhyperinsulinemic hypoglycemiahypoglycemia

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Area of Science:

  • Genetics
  • Endocrinology
  • Pediatrics

Background:

  • Kabuki syndrome (KS) is a congenital disorder diagnosed clinically, characterized by distinctive facial features and multisystemic involvement.
  • While not common, hypoglycemia is a critical manifestation in KS that necessitates prompt identification and management to prevent neurological complications.

Observation:

  • This report details four pediatric patients with Kabuki syndrome who presented with persistent hypoglycemia.
  • The underlying causes identified included hyperinsulinemic hypoglycemia in two patients and growth hormone deficiency in one.
  • The etiology of hypoglycemia remained undetermined in one patient.

Findings:

  • Genetic analysis revealed MLL2 gene mutations in three of the four patients studied.
  • The study observed diverse mechanisms contributing to hypoglycemia in Kabuki syndrome patients.
  • A potential role for the MLL2 gene in glucose homeostasis is suggested by these findings.

Implications:

  • These findings underscore the importance of screening for hypoglycemia in all Kabuki syndrome patients.
  • Recognizing diverse causes of hypoglycemia in KS is crucial for timely and effective therapeutic interventions.
  • Further research into the MLL2 gene's function may elucidate novel pathways in glucose regulation and KS pathogenesis.