Daily Archives: February 5, 2017

VPS35 in Parkinson’s Disease

DNA code analysis

In previous posts, we have looked at Small and Duff’s Dual Pathway hypothesis relating to Alzheimer’s Disease. This specifically mentions VPS35 as a potential upstream regulator of Amyloid and Tau pathology.

In the literature VPS35 is frequently discussed in relation to Parkinson’s Disease. In this paper by Gambardella and colleagues, they look at the relationship between Vacuolar Protein Sorting Genes and Parkinson’s Disease.

In their review of the literature they note that

(a) p.Asp620Asn is the most common mutation in VPS35 in Parksinson’s Disease

(b) There are a number of other rarer mutations

(c) The prevalence of VPs35 mutations in PD* reaches 0.22%

(d) Quoting a study by Tang et al, they note that modelling the biological correlates of the clinical findings (i.e. mutations) is not so straightforward and much remains to be clarified.

The authors also cover other components of the Retromer complex and also evidence for the possible pathophysiology involved.

*They refer to mixed PD which I interpreted as the combination of Familial and Sporadic cases

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.

 

 

 

 

 

ICD-6

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The sixth revision of the original (Bertillon’s) classification of causes of death but also encompassing diseases is referenced in this article at the WHO website.

The conference for the sixth revision was held in 1948. While previous conferences has been organised jointly between the International Institute of Statistics and the Health Organisation of the League of Nations, there had been significant changes in the years since the last conference.

The League of Nations had been created at the end of World War I to establish global peace and stability. However many countries began to withdraw from the League of Nations and following the events of World War II, the League did not continue. The last meeting was held in 1946.

The functions of the League of Nations were passed to the newly formed United Nations. The World Health Organisation as an agency of the United Nations took on the functions of the Health Organisation of the League of Nations.

The International Health Conference convened in 1946 (there is a brief reference to the International Health Conference in this letter). At this conference the decision was made to pass the responsibility for revising the causes of death and compiling the international list of causes of morbidity to the World Health Organisation.

The French Government organised the Conference for the Sixth Revision in 1948 with the French authorities and the WHO. The recommendations from the conference were accepted by the First World Health Assembly in 1948.

The sixth revision included classification rules as well as supporting vital and health statistics.

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

ICD-1 – Well…near enough

ICD-2

ICD-3

ICD-4

ICD-5

Körner Data and SNOMED: A Snapshot from 1988

Mapping ICD 9 (or 10) to SNOMED CT®

Over 1 Million Relationships: SNOMED CT ®

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.