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Achalasia Microcephaly[edit]

This is why I am creating this article (proposal)

Achalasia Microcephaly

Achalasia Microcephaly is a notable topic for a Wikipedia article as it has received significant coverage in several reliable, peer reviewed sources. It is a relatively new area of research, however, several authors and medical researchers have expressed concern over its increasing manifestation over the past few decades. Furthermore, journal articles that are concerned with achalasia and microcephaly have used these sources as references in their research and have acknowledged that this disease is a related but independent area of study. This topic will be explored and written in a neutral point of view as the factual contents of this article will be derived from case studies and experimental results from medical journals which are reported with no opinions or loaded and emotive language. Quantitative information, in these medical journals, are prioritised over qualitative statements. Any conflicting findings from reputable, medical journals will be not be presented as facts and the prominence of these findings will be clearly indicated. There will be no original research in the writing of this article as all material will be attributable to reliable and published sources. All information included will be cited from these sources only.

It will also contain links to these articles: Microcephaly and Esophageal achalasia within the body of the article, contributing to its credibility.

It is part of the Wikiproject: Wikipedia:WikiProject_Medicine

comparison between normal head and baby with microcephaly


Description[edit]

The description will explain achalasia microcephaly as a rare syndrome. It will contain information about the individual diseases associated with it: achalasia—a disorder that causes vomiting and regurgitation; microcephaly—the underdevelopment of the brain; and mental retardation—the resulting stunted growth and development due to microcephaly, which is required for understanding the disease as a whole. This description will include the symptoms which aid in its diagnosis and an overview of treatment options. It will also contain information about mortality as well as the number of known cases of achalasia microcephaly, in order to quantify the rarity of this disease and highlight its familial trend.

Signs and Symptoms[edit]

This section will elaborate on the individual symptoms that manifest due to the disorder, including the individual diseases associated with it. It will explain the known mechanistic pathways that lead to these symptoms.

Diagnosis[edit]

This section will explain the clinical methods utilised to diagnose the syndrome, which involves the methods that are used to individually diagnose achalasia and microcephaly. It will also report briefly on the rationale on how each result leads to the clinical diagnosis.

Treatment[edit]

This section will provide information on the types of treatment being utilised to address this disease and the rationale behind them.

Etiology[edit]

This section will inform the reader of the current knowledge behind the causes of the disease, including genetic contributions, based on published studies of real cases of the disorder.

Research[edit]

This section will talk about the research being undertaken to determine the etiology of the disease, such as their focus, directions and goals. This includes genetic studies and their findings.

Annotated Bibliography[edit]

Gockel, H. R., Schumacher, J., Gockel, I., Lang, H., Haaf, T., Nothen, M. M. (2010). Achalasia: will genetic studies provide insights? Human Genetics, 128, 353-364. DOI:10.1007/s00439-010-0874-8

  • This journal review will be used in the description as it provides a substantial overview of the development of achalasia manifesting with other diseases, as well as in the etiology component of the article as it refers to the first case studies of achalasia microcephaly. It will also be used in the research section, where further genetic studies will be explained.
  • This shows that the article is worth pursuing as establishing a Wikipedia page will help increase awareness and contribute to the knowledge of related diseases and therefore increase our understanding of the human body.

Woods, C. G. (2004). Human microcephaly. Current Opinion in Neurobiology, 14, 112-117. DOI:10.1016/j.conb.2004.01.003

  • This journal article will be used in the description portion of the article, pertaining to microcephaly as an independent disease. It will also be used to elaborate on the signs and symptoms and treatment of microcephaly, as well as its etiological contributions to achalasia microcephaly syndrome.
  • This source demonstrates that the article is worth pursuing as it shows that the syndrome has an established history and basis and therefore does not have any original research. Further, this source shows how the syndrome is related but also different to clinical microcephaly and is therefore not merely a sub-page.

Kreuz, F. R., Nolte-Buchholtz, S., Fackler, F., Behrens, R. (1999). Another case of achalasia-microcephaly syndrome. Clinical Dysmorphology, 8, 295-297. DOI: 10.1097/00019605-199910000-00012

  • This journal article will be used in the etiology section and is useful as it provides a new perspective on the manifestation of the disease which differs from previous case studies. It will also be used in the signs and symptoms and diagnosis sections.
  • This source fortifies the need for this article as it places the disease in context of the current scope of knowledge pertaining to its etiology. It is not just a sub-page of achalasia or microcephaly, but rather a separate disease that can manifest due to reasons independent of or different to current knowledge (of these individual diseases).

Khalifa, M. M. (1988). Familial Achalasia, Microcephaly, and Mental Retardation. Clinical pediatrics, 27(10), 509-512. DOI:10.1177/000992288802701009

  • This journal article provides insight into one of the first case studies whereby achalasia and microcephaly as a constellation was seen as an increasing area of concern. It will be used in the description as well as the etiology, signs and symptoms and diagnosis.
  • This source demonstrates that this article is worth pursuing as it shows the notability of the topic. The evidence of real life cases places the disease in context and demonstrates the significance of further research in this area of disease. 

Spiess, A. E., Kahrilas, P. J. (1998). Treating Achalasia: from whalebone to laproscope. Journal of the American Medical Association, 280(7), 638-642. DOI: 10.1001/jama.280.7.638

  • This journal article will be used in the description portion as a means to provide a brief overview of achalasia as an independent disease (which will provide greater understanding of the syndrome as a whole). It will also be used in the signs and symptoms, etiology, diagnosis and treatment.
  • This source shows that the article is worth pursuing as the importance of gaining knowledge of the disease is directly linked to the understanding of the development and diagnosis of achalasia and its associated diseases.