DNP 810 Identify a complex inheritance health issue you encountered in your clinical practice or personal life
DNP 810 Identify a complex inheritance health issue you encountered in your clinical practice or personal life
Identify a complex inheritance health issue you encountered in your clinical practice or personal life. How would you approach working with a patient of a complex inheritance health issue? Explain. Support your rationale with a minimum of two scholarly sources.
Researchers are learning that nearly all conditions and diseases have a genetic component. Some disorders, such as sickle cell disease and cystic fibrosis, are caused by variants (also known as mutations) in single genes. The causes of many other disorders, however, are much more complex. Common health problems such as heart disease, type 2 diabetes, and obesity do not have a single
genetic cause—they are influenced by multiple genes (polygenic) in combination with lifestyle and environmental factors, such as exercise, diet, or pollutant exposures. Conditions caused by many contributing factors are called complex or multifactorial disorders.
Although complex disorders often cluster in families, they do not have a clear-cut pattern of inheritance. It may be difficult to identify the role of genetics in these disorders, particularly because families often also share environments and may have similar lifestyles. This makes it difficult to determine a person’s risk of inheriting or passing on these disorders. Complex disorders are also difficult to study and treat because the specific factors that cause most of these disorders have not yet been identified. Researchers continue to look for major contributing genes for many common, complex disorders.
Thrombocytopenia–absent radius (TAR) syndrome is characterized by hypomegakaryocytic thrombocytopenia and bilateral radial aplasia in the presence of both thumbs. Other frequent associations are congenital heart disease and a high incidence of cow’s milk intolerance. Evidence for autosomal recessive inheritance comes from families with several affected individuals born to unaffected parents, but several other observations argue for a more complex pattern of inheritance. In this study, we describe a common interstitial microdeletion of 200 kb on chromosome 1q21.1 in all 30 investigated patients with TAR syndrome, detected by microarray-based comparative genomic hybridization. Analysis of the parents revealed that this deletion occurred de novo in 25% of affected individuals. Intriguingly, inheritance of the deletion along the maternal line as well as the paternal line was observed. The absence of this deletion in a cohort of control individuals argues for a specific role played by the microdeletion in the pathogenesis of TAR syndrome. We hypothesize that TAR syndrome is associated with a deletion on chromosome 1q21.1 but that the phenotype develops only in the presence of an additional as-yet-unknown modifier (mTAR).
Thrombocytopenia–absent radius (TAR) syndrome (MIM 274000) is a clinically well-characterized malformation syndrome. According to the diagnostic criteria defined by J. Hall in 1969, typical clinical features are hypomegakaryocytic thrombocytopenia and bilateral absence of the radius in the presence of both thumbs.1 These characteristic patterns differentiate TAR syndrome from other conditions with involvement of the radius—that is, Holt-Oram syndrome (MIM 142900), Roberts syndrome (MIM 268300), and Fanconi anemia (MIM 227650)—in which the thumb is usually absent or severely hypoplastic. Additional skeletal features associated with TAR syndrome include shortening and, less commonly, aplasia of the ulna and/or humerus. In the latter situation, the five-fingered hand arises from the shoulder. The hands may show limited extension of the fingers, radial deviation, and hypoplasia of the carpal and phalangeal bones. The lower limbs are frequently involved, but usually to a lesser extent than are the upper limbs. Dislocation of the hips and subluxation of the knees resulting in coxa vara are common.
Extraskeletal manifestations comprise cardiac abnormalities, such as tetralogy of Fallot and atrial septal defects, and abnormalities of the genitourinary tract. Cow’s milk allergy or intolerance appears to be relatively common among patients with TAR syndrome and may provoke eosinophilia.2 Patients with TAR syndrome typically present with petechiae and severe bleeding during the first years of life. Platelet counts are often <50 platelets/nl (normal range 150–400 platelets/nl) due to impaired presence or maturation of megakaryocytic progenitors in the bone marrow.3,4 Although platelet counts ameliorate over time, patients remain thrombocytopenic with continued risk of bleeding. In addition, young patients with TAR syndrome have been reported to have leukemoid reactions with white blood counts exceeding 35,000 cells/mm3. Similar to the thrombocytopenia, they are transient in nature and not associated with true leukemia.5
The genetic basis of TAR syndrome remains unclear. Different modes of inheritance—that is, autosomal recessive, autosomal dominant, or autosomal dominant with reduced penetrance—have been discussed in the literature.1,2,6 Generally, the pattern of inheritance is most consistent with autosomal recessive inheritance.7 However, there does not appear to be an increased incidence of consanguinity in families with TAR syndrome, as would be expected for a rare autosomal recessive disorder. Several families have been reported with affected individuals spread across 2 or even 3 generations,6 an unexpected finding in nonconsanguineous pedigrees. In addition, parent-to-child transmission has been reported.8 Several explanations have been put forward to explain these unusual observations. Hall et al.7 suggested that patients with TAR syndrome may be genetic compounds. In this case, TAR syndrome would follow a digenic inheritance similar to the situation described for Bardet-Biedl syndrome.9 Also, the possibility that Roberts syndrome and TAR syndrome are allelic conditions has been discussed.
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Communication is so very important. There are multiple ways to communicate with me:
Questions to Instructor Forum: This is a great place to ask course content or assignment questions. If you have a question, there is a good chance one of your peers does as well. This is a public forum for the class.
Individual Forum: This is a private forum to ask me questions or send me messages. This will be checked at least once every 24 hours.
Important information for writing discussion questions and participation
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Hello class and welcome to the class and I will be your instructor for this course. This is a -week course and requires a lot of time commitment, organization, and a high level of dedication. Please use the class syllabus to guide you through all the assignments required for the course. I have also attached the classroom policies to this announcement to know your expectations for this course. Please review this document carefully and ask me any questions if you do. You could email me at any time or send me a message via the “message” icon in halo if you need to contact me. I check my email regularly, so you should get a response within 24 hours. If you have not heard from me within 24 hours and need to contact me urgently, please send a follow up text to
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Please, be advised I do NOT accept any assignments by email. If you are having technical issues with uploading an assignment, contact the technical department and inform me of the issue. If you have any issues that would prevent you from getting your assignments to me by the deadline, please inform me to request a possible extension. Note that working fulltime or overtime is no excuse for late assignments. There is a 5%-point deduction for every day your assignment is late. This only applies to approved extensions. Late assignments will not be accepted.
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Plagiarism is highly prohibited. Please ensure you are citing your sources correctly using APA 7th edition. All assignments including discussion posts should be formatted in APA with the appropriate spacing, font, margin, and indents. Any papers not well formatted would be returned back to you, hence, I advise you review APA formatting style. I have attached a sample paper in APA format and will also post sample discussion responses in subsequent announcements.
Your initial discussion post should be a minimum of 200 words and response posts should be a minimum of 150 words. Be advised that I grade based on quality and not necessarily the number of words you post. A minimum of TWO references should be used for your initial post. For your response post, you do not need references as personal experiences would count as response posts. If you however cite anything from the literature for your response post, it is required that you cite your reference. You should include a minimum of THREE references for papers in this course. Please note that references should be no more than 5 years old except recommended as a resource for the class. Furthermore, for each discussion board question, you need ONE initial substantive response and TWO substantive responses to either your classmates or your instructor for a total of THREE responses. There are TWO discussion questions each week, hence, you need a total minimum of SIX discussion posts for each week. I usually post a discussion question each week. You could also respond to these as it would count towards your required SIX discussion posts for the week.
I understand this is a lot of information to cover in 5 weeks, however, the Bible says in Philippians 4:13 that we can do all things through Christ that strengthens us. Even in times like this, we are encouraged by God’s word that we have that ability in us to succeed with His strength. I pray that each and every one of you receives strength for this course and life generally as we navigate through this pandemic that is shaking our world today. Relax and enjoy the course!
Hi Class,
Please read through the following information on writing a Discussion question response and participation posts.
Contact me if you have any questions.
Important information on Writing a Discussion Question
- Your response needs to be a minimum of 150 words (not including your list of references)
- There needs to be at least TWO references with ONE being a peer reviewed professional journal article.
- Include in-text citations in your response
- Do not include quotes—instead summarize and paraphrase the information
- Follow APA-7th edition
- Points will be deducted if the above is not followed
Participation –replies to your classmates or instructor
- A minimum of 6 responses per week, on at least 3 days of the week.
- Each response needs at least ONE reference with citations—best if it is a peer reviewed journal article
- Each response needs to be at least 75 words in length (does not include your list of references)
- Responses need to be substantive by bringing information to the discussion or further enhance the discussion. Responses of “I agree” or “great post” does not count for the word count.
- Follow APA 7th edition
- Points will be deducted if the above is not followed
- Remember to use and follow APA-7th edition for all weekly assignments, discussion questions, and participation points.
- Here are some helpful links
- Student paper example
- Citing Sources
- The Writing Center is a great resource