MATURITY-ONSET DIABETES OF THE YOUNG

MATURITY-ONSET DIABETES OF THE YOUNG
Presentation by:Stefan S. Fajans, MD
University of Michigan

Definition
* Type-2 diabetes mellitus in the young plus
* Autosomal dominant inheritance

Current Definition of MODY
* A heterogeneous disorder due to heterozygous monogenic mutations in one of at least 6 different genes
* Onset of diabetes early in life: childhood, adolescence, young adulthood
* Autosomal dominant inheritance
* Primary defect in insulin secretion

Heterozygous Gene Mutations Identified in MODY
Homozygous Mutations of MODY-Related Genes
MODY-Related Proteins
Distinguishing Clinical Characteristics of MODY and Type 2 Diabetes (DM2)
MODY1 (HNF-4a Mutation):
Tested and normal
Type 1 diabetes
PVD-A-G
Multiple offspring
MODY1 (HNF-4a Mutation):
Tested and normal
Type 2 diabetes
Phenotypic Expression and Natural History of MODY
MODY1 (HNF-4a Mutation):
Protocol for the Stepped Glucose Infusion Method to Determine Insulin Secretion Rate

MATURITY-ONSET DIABETES OF THE YOUNG.ppt

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Overview of carbohydrate metabolism

Overview of carbohydrate metabolism
Presentation by: Dr. Nuran Ercal

GLYCOLYSIS
* Glycolysis occurs in almost every living cell.
* It occurs in cytosol.
* It was the first metabolic sequence to be studied.
* Most of the work done in 1930s by the German biochemist G. Embden Meyerhof Warburg.
* That is why it is also called Embden-Meyerhof pathway.
* It is a greek word.
* Glykos------> sweet
* Lysis-------> loosing
* Glycolysis-----------> loosing or splitting of glucose
* Glc is an important fuel for most organisms.
* Why is Glc chosen?
* 1) Glc is one of the monosaccarides formed formaldehyde
* under prebiotic conditions.
* 2) Glc has a low tendency to glycosylate proteins
* Fermentations provide usable energy in the absence of oxygen
* Why is a relatively inefficient metabolic pathway so extensively
* used?
* Answer: It does not require oxygen
* Obligate anaerobes
* Facultative anaerobes
* 3 of the reactions of glycolysis are irreversible.
* Pyruvate is the end product of glycolysis in tissues with mitochondria.
* This series of 10 reactions called aerobic glycolysis,

Stages of glycolysis
* Stage I
* Goal: To trap the Glc in the cell

IMPORTANCE OF PHOSPHARYLATED INTERMEDIATES
PHOSPHORYLATION OF GLUCOSE
Induced fit in Hexokinase
Difference between hexokinase and glucokinase
Hexokinase vs glucokinase
SUMMARY
More about HK
* Hexokinase, like adenylate kinase and all other kinases, requires Mg (or Mn) for activity.
* Hexokinase is also one of the induced-fit model enzymes.
* It has two lobes that move towards each other when Glc is bound!
* Substrate-induced cleft closing is a general feature of kinases.
* Other kinases (Pyruvate kinase, phosphoglycerate kinase and PFK) also contain clefts between lobes that close when substrate is bound.

2. ISOMERIZATION OF G-6-P
3. PHOSPHORYLATION OF F-6-P
4. CLEAVAGE OF F-1,6BIP
5. ISOMERIZATION OF DIHYDROXYACETONE-P
6. OXIDATION OF GLYCERALDEHYDE 3-P.
Structure of glyceraldehyde 3-phosphate dehydrogenase
7: FORMATION OF ATP FROM 1,3-BIPGLYCERATE AND ADP
Q:Why does PEP have such a high P-ryl potential?
Pyruvate kinase deficiency:
Maintaining redox balances

Overview of carbohydrate metabolism.ppt

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Fetal distress

Fetal distress
Presentation by:LIN QI DE

Fetal distress is defined as depletion of oxygen and accumulation of carbon dioxide,leading to a state of “hypoxia and acidosis ” during intra-uterine life.

Definition
Maternal factors

* Microvascular ischaemia(PIH)
* Low oxygen carried by RBC(severe anemia)
* Acute bleeding(placenta previa, placental abruption)
* Shock and acute infection
* obstructed of Utero-placental blood flow

Etiology
Placenta umbilical factors
* Obstructed of umbilical blood flow
* Dysfunction of placenta
* Fetal factors
* Malformations of cardiovascular system
* Intrauterine infection

Hypoxiaaccumulation of carbon dioxide
Respiratory Acidosis
Intestinal peristalsis
Relaxation of the anal sphincter
Meconium aspiration
Fetal or neonatal pneumonia
Pathogenesis
Acute fetal distress

Clinical manifestation Acute fetal distress
Acute fetal distress
Chronic fetal distress
Management

Fetal distress.ppt

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