Category Archives: Uncategorized

Mitochondrial Complex III Deficiency

DNA code analysis

In previous posts we looked at a review by Dose J, Huebbe P, Nebel A and Rimbach G titled  ‘APOE4 genotype and stress response – a mini review’. Dose and colleagues noted evidence that APOE4 binds to mitochondrial complexes III and IV.

I looked at ‘mitochondrial complex III deficiency’ in medline which retrieved 20 references including this paper by Ardissone and colleagues. Ardissone focused specifically on TTC19 Defects leading to mitochondrial complex III deficiency. There were key findings which included
(a) A developmental onset
(b) Involvement of the Cerebellum
(c) Involvement of the Basal Ganglia

(d) Rapid progression of the neurological manifestations

Although APOE4 might bind to mitochondrial complex III it is unclear whether this could lead to pathological causes via reduced function. There are several possibilities
(a) The actions result from mitochondrial complex III deficiency but there is a distinction between young and late onset of this deficiency
(b) The actions result from mitochondrial complex III deficiency but there is a distinction between this pathway and that caused by TTC19 defects
(c) The actions result from a combination of mitochondrial complex III deficiency and other aspects of APOE4 action

(d) Mitochondrial complex III deficiency does not play a significant role in the pathological effects of APOE4

From my perspective the paper above is more suggestive of a subcortical than cortical pathology.

 

Citations

Ardissone A, Granata T, Legati A, et al. Mitochondrial Complex III Deficiency Caused by TTC19 Defects: Report of a Novel Mutation and Review of Literature. JIMD Reports. 2015;22:115-120. doi:10.1007/8904_2015_419.

Dose J, Huebbe P, Nebel A, Rimbach G. APOE genotype and stress response – a mini review. Lipids in Health and Disease. 2016;15:121. doi:10.1186/s12944-016-0288-2.

Index: There are indices for the TAWOP site here and here

Twitter: You can follow ‘The Amazing World of Psychiatry’ Twitter by clicking on this link.

TAWOP Channel: You can follow the TAWOP Channel on YouTube by clicking on this link.

Responses: If you have any comments, you can leave them below or alternatively e-mail justinmarley17@yahoo.co.uk.

Disclaimer: The comments made here represent the opinions of the author and do not represent the profession or any body/organisation. The comments made here are not meant as a source of medical advice and those seeking medical advice are advised to consult with their own doctor. The author is not responsible for the contents of any external sites that are linked to in this blog.

Conflicts of Interest: *For potential conflicts of interest please see the About section.

Procedure Descriptors in SNOMED CT®

computer-keyboard-1380475577zzm

In this series of posts I am looking at SNOMED CT® using the international browser.

SNOMED CT® codes procedures across biological, psychological and social domains. So it is possible to generate codes for various types of assessment and interventions. This means that many different healthcare professionals will be able to code their interventions.

In terms of workflow, perhaps SNOMED CT® offers an opportunity to generate a clinical form of shorthand – capturing salient parts of the narrative in coding and supporting this with text based descriptions. In turn however this is influenced by the functions of the documentation (e.g. communication, differential diagnosis and so on).

Appendix A – Other Posts in the Series on Health Information Exchanges

A Literature Review of 40 years of SNOMED

Arizona Statewide Health Information Exchange

A History of The Health Information Exchange in Pennsylvania

The Arkansas Health Information Exchange – SHARE

The California Health Information Exchange – Cal Index

Creating a Health Information Exchange in Arizona

Health Information Exchanges

Health Information Exchanges and Chronic Conditions

HIPPA and Health Information Exchanges

ICD-11 and SNOMED CT®

ICD-SNOMED-CT® Harmonisation

Physical Objects in SNOMED CT®

ICD-1 – Well…near enough

ICD-2

ICD-3

ICD-4

ICD-5

ICD-6

ICD-7

ICD-8

ICD-9

ICD-10

ICD-11

Körner Data and SNOMED: A Snapshot from 1988

Mapping ICD 9 (or 10) to SNOMED CT®

Over 1 Million Relationships: SNOMED CT ®

SNOMED CT® International Browser

SNOMED CT® Utilises the Brodmann Area Classification for Brain Regions

The Insular Cortex and SNOMED CT®

Administrative Statuses in SNOMED CT®

Environment Descriptors in SNOMED CT®

Event Descriptors in SNOMED CT®

Generic Specifiers in SNOMED CT®

Physical Forces in SNOMED CT®

The Classification of Life in SNOMED CT®

What’s a Kinkajou got to do with 21st Century Medical Terminology?

Standardisation of Health Information Technology in New Zealand

Statisticians were Responsible for the Development of an International Classification of Diseases

Why Do We Need Electronic Record Systems to Talk to Each Other

Appendix B – Definition of Health Information Exchange

This is the definition of the Health Information Exchange that I use (Hersh et al, 2015)

Health information exchange (HIE), the electronic sharing of clinical information across the boundaries of health care organizations

Index: There are indices for the TAWOP site here and here

Twitter: You can follow ‘The Amazing World of Psychiatry’ Twitter by clicking on this link.

TAWOP Channel: You can follow the TAWOP Channel on YouTube by clicking on this link.

Responses: If you have any comments, you can leave them below or alternatively e-mail justinmarley17@yahoo.co.uk.

Disclaimer: The comments made here represent the opinions of the author and do not represent the profession or any body/organisation. The comments made here are not meant as a source of medical advice and those seeking medical advice are advised to consult with their own doctor. The author is not responsible for the contents of any external sites that are linked to in this blog.

Conflicts of Interest: *For potential conflicts of interest please see the About section.

 

APOE4 and Mitochondria

DNA code analysis
In previous posts we looked at a review by Dose J, Huebbe P, Nebel A and Rimbach G titled  ‘APOE4 genotype and stress response – a mini review’. APOE4 is referenced as an upstream regulator of Tau and Amyloid pathology in Small and Duff’s Dual Pathway Hypothesis.
In their paper, Dose and colleagues note several lines of evidence that link APOE4 with  mitochondrial function either directly or indirectly
(1) Evidence that APOE4 binds to mitochondrial complexes III and IV
(2) Lower respiratory capacity in APOE4 models
(3) Low levels of brain glucose metabolism in APOE4 carriers
Many lines of evidence about this relationship are summarised in Table 2 in the paper.
Citation
Dose J, Huebbe P, Nebel A, Rimbach G. APOE genotype and stress response – a mini review. Lipids in Health and Disease. 2016;15:121. doi:10.1186/s12944-016-0288-2.

Index: There are indices for the TAWOP site here and here

Twitter: You can follow ‘The Amazing World of Psychiatry’ Twitter by clicking on this link.

TAWOP Channel: You can follow the TAWOP Channel on YouTube by clicking on this link.

Responses: If you have any comments, you can leave them below or alternatively e-mail justinmarley17@yahoo.co.uk.

Disclaimer: The comments made here represent the opinions of the author and do not represent the profession or any body/organisation. The comments made here are not meant as a source of medical advice and those seeking medical advice are advised to consult with their own doctor. The author is not responsible for the contents of any external sites that are linked to in this blog.

Conflicts of Interest: *For potential conflicts of interest please see the About section.

The Classification of Life in SNOMED CT®

800px-georgia_aquarium_-_giant_grouper_edit

Photograph by Diliff (CC BY 2.5)

In this series, I am evaluating the SNOMED CT® terminology. SNOMED CT® includes a classification of organisms based on the Linnaeus Taxonomy. Thus it is possible to code species according to their phylum and class. There are 183 species of fish which are coded.

I did a quick search of medline on fish which returned 236,399 papers. Not all of these papers were relevant to illness in humans. There were a number of papers which included Fish as an author or referenced Fluorescent in-situ Hybridisation (FISH). A large number of other papers were from biology journals. There were a few areas related to human illness – contact dermatitis and zoonotic infectious diseases.

I could see the potential for describing the pets or other animals associated with a person. As examples, decision support tools could be developed which would flag alerts if a person is unexpectedly admitted to hospital or where the differential diagnosis for a presentation is modified accordingly.

Appendix A – Other Posts in the Series on Health Information Exchanges

A Literature Review of 40 years of SNOMED

Arizona Statewide Health Information Exchange

A History of The Health Information Exchange in Pennsylvania

The Arkansas Health Information Exchange – SHARE

The California Health Information Exchange – Cal Index

Creating a Health Information Exchange in Arizona

Health Information Exchanges

Health Information Exchanges and Chronic Conditions

HIPPA and Health Information Exchanges

ICD-11 and SNOMED CT®

ICD-SNOMED-CT® Harmonisation

Physical Objects in SNOMED CT®

ICD-1 – Well…near enough

ICD-2

ICD-3

ICD-4

ICD-5

ICD-6

ICD-7

ICD-8

ICD-9

ICD-10

ICD-11

Körner Data and SNOMED: A Snapshot from 1988

Mapping ICD 9 (or 10) to SNOMED CT®

Over 1 Million Relationships: SNOMED CT ®

SNOMED CT® International Browser

SNOMED CT® Utilises the Brodmann Area Classification for Brain Regions

The Insular Cortex and SNOMED CT®

Administrative Statuses in SNOMED CT®

Environment Descriptors in SNOMED CT®

Event Descriptors in SNOMED CT®

Generic Specifiers in SNOMED CT®

Physical Forces in SNOMED CT®

What’s a Kinkajou got to do with 21st Century Medical Terminology?

Standardisation of Health Information Technology in New Zealand

Statisticians were Responsible for the Development of an International Classification of Diseases

Why Do We Need Electronic Record Systems to Talk to Each Other

Appendix B – Definition of Health Information Exchange

This is the definition of the Health Information Exchange that I use (Hersh et al, 2015)

Health information exchange (HIE), the electronic sharing of clinical information across the boundaries of health care organizations

Index: There are indices for the TAWOP site here and here

Twitter: You can follow ‘The Amazing World of Psychiatry’ Twitter by clicking on this link.

TAWOP Channel: You can follow the TAWOP Channel on YouTube by clicking on this link.

Responses: If you have any comments, you can leave them below or alternatively e-mail justinmarley17@yahoo.co.uk.

Disclaimer: The comments made here represent the opinions of the author and do not represent the profession or any body/organisation. The comments made here are not meant as a source of medical advice and those seeking medical advice are advised to consult with their own doctor. The author is not responsible for the contents of any external sites that are linked to in this blog.

Conflicts of Interest: *For potential conflicts of interest please see the About section.

APOE and Aging

DNA code analysis
In previous posts we looked at a review by Dose J, Huebbe P, Nebel A and Rimbach G titled  ‘APOE4 genotype and stress response – a mini review’. APOE4 is referenced as an upstream regulator of Tau and Amyloid pathology in Small and Duff’s Dual Pathway Hypothesis.
In their paper, Dose and colleagues note several lines of evidence from murine studies  suggesting that APOE plays a role in the aging process. When the APOE gene is inactive this results (amongst other findings) in
(1) An increase in atherosclerosis
(2) Increased oxidative stress
(3) Loss of hair follicles
(4) Shortened lifespan

 

Citation
Dose J, Huebbe P, Nebel A, Rimbach G. APOE genotype and stress response – a mini review. Lipids in Health and Disease. 2016;15:121. doi:10.1186/s12944-016-0288-2.

Index: There are indices for the TAWOP site here and here

Twitter: You can follow ‘The Amazing World of Psychiatry’ Twitter by clicking on this link.

TAWOP Channel: You can follow the TAWOP Channel on YouTube by clicking on this link.

Responses: If you have any comments, you can leave them below or alternatively e-mail justinmarley17@yahoo.co.uk.

Disclaimer: The comments made here represent the opinions of the author and do not represent the profession or any body/organisation. The comments made here are not meant as a source of medical advice and those seeking medical advice are advised to consult with their own doctor. The author is not responsible for the contents of any external sites that are linked to in this blog.

Conflicts of Interest: *For potential conflicts of interest please see the About section.

Physical Forces in SNOMED CT®

lightning3

In this series of posts I am evaluating SNOMED CT® using the international browser.

SNOMED CT® includes codings for physical forces. These allow for the coding of forces associated with trauma and also documentation about the weather as examples of clinical utility. When combined with other codings this allows for a rich description of the context of clinical events.

Appendix B – Definition of Health Information Exchange

This is the definition of the Health Information Exchange that I use (Hersh et al, 2015)

Health information exchange (HIE), the electronic sharing of clinical information across the boundaries of health care organizations

Index: There are indices for the TAWOP site here and here

Twitter: You can follow ‘The Amazing World of Psychiatry’ Twitter by clicking on this link.

TAWOP Channel: You can follow the TAWOP Channel on YouTube by clicking on this link.

Responses: If you have any comments, you can leave them below or alternatively e-mail justinmarley17@yahoo.co.uk.

Disclaimer: The comments made here represent the opinions of the author and do not represent the profession or any body/organisation. The comments made here are not meant as a source of medical advice and those seeking medical advice are advised to consult with their own doctor. The author is not responsible for the contents of any external sites that are linked to in this blog.

Conflicts of Interest: *For potential conflicts of interest please see the About section.

APOE and Lipid Metabolism (Updated 21.2.17)

liver
In a previous post we looked at a review by Dose J, Huebbe P, Nebel A and Rimbach G titled  ‘APOE4 genotype and stress response – a mini review’. APOE4 is referenced as an upstream regulator of Tau and Amyloid pathology in Small and Duff’s Dual Pathway Hypothesis.
Given the suggested role of APOE4 in the above hypothesis, it is important to understand the role of the Apolipoprotein (APOE) in lipid metabolism.
In their paper, Dose et al note that there APOE plays a role in three key pathways for lipid metabolism.
(1) The exogenous pathway: In this pathway, APOE is incorporated into chylomicrons as they pass from the intestine into the systemic circulation. The APOE facilitates the uptake of cholesterol in the Liver.
(2) The endogenous pathway: In this pathway, APOE facilitates the transfer of cholesterol to the peripheral tissues.
(3) The reverse cholesterol pathway: In this pathway, APOE facilitates the transfer of cholesterol from the peripheral tissues to the liver.
This is a simplification of the more nuanced explanation provided by Dose et al.
Citation
Dose J, Huebbe P, Nebel A, Rimbach G. APOE genotype and stress response – a mini review. Lipids in Health and Disease. 2016;15:121. doi:10.1186/s12944-016-0288-2.

Index: There are indices for the TAWOP site here and here

Twitter: You can follow ‘The Amazing World of Psychiatry’ Twitter by clicking on this link.

TAWOP Channel: You can follow the TAWOP Channel on YouTube by clicking on this link.

Responses: If you have any comments, you can leave them below or alternatively e-mail justinmarley17@yahoo.co.uk.

Disclaimer: The comments made here represent the opinions of the author and do not represent the profession or any body/organisation. The comments made here are not meant as a source of medical advice and those seeking medical advice are advised to consult with their own doctor. The author is not responsible for the contents of any external sites that are linked to in this blog.

Conflicts of Interest: *For potential conflicts of interest please see the About section.