User:Alex Mosz/sandbox

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This is place to practice clicking the "edit" button and practice adding references (via the citation button). Please see Help:My_sandbox or contact User_talk:JenOttawa with any questions.

Link: Project Homepage and Resources


 * Note: Please use your sandbox to submit assignment # 3 by pasting it below. When uploading your improvements to the article talk page please share your exact proposed edit (not the full assignment 3).


 * Talk Page Template: CARL Medical Editing Initiative/Fall 2019/Talk Page Template

= Alex's totally awesome Noonan Syndrome Sandbox! =

Alex's most recent publication, hot off the press for anyone who is interested.

Assignment 2:
Article I selected:

'Romano, A.A. et al''. Noonan Syndrome: Clinical Features, Diagnosis, and Management Guidelines. Pediatrics. 2010: 126(4); 746-759.'''

1) How you searched for a source (search strategy – where you went to find it).

I used PubMed to search for my source. “Noonan syndrome” was the search term used and results were filtered by best match and for review articles only. 316 articles were identified and I read the abstracts for the top 10 articles.

2) What potential sources were identified and considered (give examples of 1 or 2).

Multiple sources were considered, many of which were narrative reviews. A 2013 narrative review called “Noonan Syndrome” by Roberts at al was considered, along with a more recent review (2018) entitled “Cardiovascular disease in Noonan syndrome” by Pierpont and Digilio were considered. The Pierpont paper was too specific in focus for my aim of a general symptom overview and the Roberts paper was useful, but the clinical practice guidelines paper I ultimately selected was a more definitive resource, being written by a group as a consensus paper.

3) Why the source was chosen (what made it better than other choices).

Article based on the quality of the journal (Pediatrics) and provides comprehensive coverage of signs and symptoms, which I will be addressing for the Wikipedia article. I felt that a detailed account of the clinical syndrome, directed at the medical practitioner would be the best resource for this section, providing me with detail required to translate the information for the lay audience of Wikipedia. Being a clinical practice guideline generated by a group it would reduce the bias of a narrative review written by a smaller number of authors. While the article is nine years old, the clinical description of the syndrome has not changed, and there have also been no newer practice guidelines published since then.

4) List at least three reasons why the source that was selected meets Wikipedia’s reliable medical sources (MEDRS) criteria.

Pediatrics is a reputable biomedical research journal.

The article is a review article summarizing a large body of primary research.

The article is a clinical practice guideline, presenting Noonan syndrome in a manner that reduces the bias of the individual author.

5) How do you plan to use the source for improving the article?

I plan on addressing the signs and symptoms (diagnosis) section of the Noonan syndrome Wikipedia page, as it has incorrect information, and is also very poorly organized. This resource will give me a starting point for doing so.

Assignment #3:
Proposed changes:

''Questions 1, 2, 3) Note that I have taken the entire section, reordered the signs and symptoms to reflect the major diagnostic signs (facial phenotype and musculoskeletal features) at the start. Rationale for this change: the article was a list rather than an article and was challenging to follow and without context. This could make for a frightening and uninformed read for the parent or child with Noonan syndrome. I have added a statement about this before going into the details about each specific set of symptoms as divided by type (head, eyes, neuro, etc). I have taken each section and turned the information within which was previously bullet points into a paragraph. Rationale for change: I wanted to highlight the major characterizing features of the syndrome to help orient the reader to these defining characteristics, and also to help reduce the shock of having heart defects be the first symptom listed when it is not the major characterizing feature. I have also added statements to clarify what is meant in some cases. This includes the statement on heart disease prevalence, and on spinal abnormalities requiring surgical intervention in a large proportion of patients, which was not mentioned previously. Rationale for change: these statements were added to help provide perspective on prevalence of disease in people with Noonan syndrome, and likelihood of developing these chronic, or surgery-requiring complications. Finally, I removed a statement about joint pain and muscle pain in adults. Rationale: this statement was not supported by any of the secondary research I could see, and was only supported by relatively recent primary research papers, which is not in keeping with the Wikipedia manual of style for medical articles (To be explicit, this is my controversy section for question 3 on the assignment guide, which was to be included in the proposed changes section).''

Critique of source:

Question 4) The two sources I have used to add to this article are review papers. The first is a consensus paper on the diagnosis and management of Noonan Syndrome. This paper was written in 2010, but the diagnosis has not changed very much in the last decade, and there is no more recent consensus paper on Noonan syndrome. The only possible source of bias I can identify is that the corresponding author is Jacqueline Noonan, and thus it is possible that other authors would not be willing to have open conversation with her due to her expertise on this topic. The second is a narrative review on Noonan syndrome written in 2014. It appears to be more comprehensive than the other paper, but because it is a narrative review it is more prone to personal bias than a paper written by a group of authors. Both articles are well written and do not make recommendations on pharmacological therapies or other suggested treatments that may be clouded by competing interests.

Physical appearance[edit]

The most common signs leading to the diagnosis of Noonan Syndrome are unique facial characteristics and musculoskeletal features. The facial characteristics are most prominent in infancy, becoming less apparent with age in many people with Noonan Syndrome.

Head[edit]

Some of the characteristic features of Noonan syndrome include a large head with excess skin on the back of the neck, low hairline at the nape of the neck, high hairline at the front of the head, triangular face shape, broad forehead, and a short, webbed neck.

Eyes[edit]

In the eyes, hypertelorism (widely set eyes) is a defining characteristic, present in 95% of people with Noonan syndrome. This may be accompanied by epicanthal folds (extra fold of skin at the inner corner of the eye), ptosis (drooping of the eyelids), proptosis (bulging eyes), strabismus (inward or outward turning of the eyes), nystagmus (jerking movement of the eyes) and refractive visual errors.

Nose[edit]

The nose may be small, wide, and upturned.

Ears and hearing[edit]

The development of the ears and auditory system may be affected in people with Noonan’s syndrome. This can result in low-set ears (in over 90%), backward-rotated ears (over 90%), thick helix (outer rim) of ear (over 90%), incomplete folding of ears, chronic otitis media (ear infections), and hearing loss.

Mouth and speech[edit]

Development of the mouth may also be affected in Noonan syndrome. This can result in deeply grooved philtrum (top lip line) (over 90%), micrognathia (undersized lower jaw), high arched palate, articulation difficulties (teeth don’t line up) which can lead to dental problems. Similar to the muscular manifestations above, in the mouth, poor tongue control may be observed.

Limbs/extremities[edit]

Abnormalities in the limbs and extremities may occur in Noonan syndrome. This may manifest as bluntly ended fingers, extra padding on fingers and toes, edema of the back of hands and tops of feet, and cubitus valgus (wide carrying angle of the elbows).

Skin[edit]

Skin signs and symptoms in Noonan syndrome include lymphedema (lymph swelling of the extremities), keloid formation, excessive scar formation, hyperkeratosis (overdevelopment of outer skin layer), pigmented nevi (darkly pigmented skin spots), and connective tissue disease.

Stature[edit]

For short stature, growth hormone is sometimes combined with IGF-1 (or as an alternative, IGF-1 as a stand-alone) can be used to achieve an increased height/final height quicker.

Musculoskeletal[edit]

Spinal abnormalities may be present up to 30% of the time and this may require surgery to correct in over 60% of these cases. Other musculoskeletal manifestations in Noonan syndrome are associated with undifferentiated connective-tissue disorders which can be associated with joint contractures (tightness) or joint hypermobility (looseness).Additional factors may present in the form of winging of the scapula, scoliosis, breast bone prominence (pectus carinatum), breast bone depression (pectus excavatum). Muscle abnormalities may present as hypotonia (low muscle tone) which may lead to lordosis (increased hollow in the back) due to poor abdominal muscle tone.

Heart[edit]

Noonan syndrome is the second most common syndromic cause of congenital heart disease and heart defects are observed in approximately 85% of people with NS. This includes pulmonary valvular stenosis (50–60%), atrial septal defects (10–25%), ventricular septal defects (5–20%) and Hypertrophic cardiomyopathy (12–35%).

Lungs[edit]

Restrictive lung function has been reported in some people.

Gastrointestinal tract[edit]

A number of diverse gastrointestinal (SI) symptoms have been associated with Noonan syndrome. These include swallowing difficulties, low gut motility, gastroparesis (delayed gastric emptying), intestinal malrotation, and frequent or forceful vomiting. These digestive issues may lead to decreased appetite, failure to thrive from infancy to puberty (75%), and occasionally the need for a feeding tube.

Genitourinary system[edit]

In some males with Noonan syndrome, testicles do not descend (Cryptorchidism).

Lymphatic system[edit]

Lymphatic anomalies including Posterior cervical hygroma (webbed neck) and Lymphedema may present in people with Noonan syndrome.

Blood[edit]

A number of bleeding disorders have been associated with Noonan Syndrome, these include platelet dysfunction, Blood clotting disorders, partial deficiency of factor VIII:C, partial deficiency of factor XI:C, partial deficiency of factor XII:C, and an imbalance of plasminogen activator inhibitor type-1 (PAI-1) and tissue plasminogen activator (t-PA) activity. It has been associated with Von Willebrand disease, Amegakaryocytic thrombocytopenia (low platelet count), prolonged activated partial thromboplastin time, combined coagulation defects. When present, these Noonan-syndrome accompanying disorders can be associated with a predisposition to bruise easily, or hemorrhage.

Neurological[edit]

Occasionally, Arnold-Chiari malformation (type 1),may occur, which can lead to hydrocephalus. Seizures have also been reported.