Pathophysiology: The Case Study Essay

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Initial Post

Robert, who is 11 years old, undergoes regular examinations and is observed by medical specialists from an early age. He is experiencing complications provoked by an illness described as major issues connected with his chromosomes’ condition. This sickness is believed to be a genetic disease characterized by a microdeletion on chromosomal 22’s long arm (Kraus et al., 2018). Autism spectrum syndrome and attention deficit hyperactivity issues are more prevalent among children with this disease. Kidney difficulties, schizophrenia, hearing problems, and inflammatory illnesses, including rheumatoid arthritis, are linked to this condition. Multiple later-onset illnesses, such as autoimmune disease, overweight, and mental disorder, are more probable to appear in individuals.

Congenital cardiac abnormalities, unique facial traits, recurrent infections, developmental disorders, learning challenges, and birth defects are these illness’s common symptoms. The symptoms of this illness differ tremendously, even within family members, and it impacts many different regions of the body (Sullivan, 2019). Other congenital problems that affected people may have as neonates include renal anomalies and substantial feeding complications. Gastrointestinal discomfort is also fairly frequent in this patient group and clinical setting. Genetic screening is considered the method that serves as a marker of the diagnosis, which is predicted based on the clinical symptoms due to the substantial number of clinical manifestations and the range of appearances. It is suspected in individuals who exhibit one or more chromosomal deletion indications. Inadequate penetrance is a feature of this disease; as a result, numerous variations can occur in clinical expression between people.

First Response Post

Considering the particular situation and the case description, it is feasible to propose jaundice as Brendan’s illness. Due to elevated bilirubin levels, jaundice, also referred to as icterus, causes a yellowish or greenish coloration of the skin and white parts of the eyes. In adults and seniors, jaundice is generally a symptom of serious illnesses, for instance, abnormal heme metabolism, autonomic dysfunction, or biliary-tract occlusion. Emphasizing treatment, jaundice therapeutic options can depend on the underlying reason (Medical Centric, 2018). Surgery is usually obligated if a bile duct obstruction is present; alternatively, healthcare management is usually sufficient. Surgery is associated with significantly increased complications and death in patients with obstructive jaundice (Medical Centric, 2018). Treatment for infectious causes and the discontinuation of medications that may be contributing to the jaundice are two options for medical therapy. What concerns the prognosis for the patient in the case study, he has considerably increased chances of recovery since he visits his ophthalmologist, who is aware of the issues related to jaundice.

Second Response Post

Considering the detailed information presented and described in the post, it is possible to suggest iron-deficiency anemia as the probable illness. Iron-deficiency anemia is believed to be a condition resulting from a lack of iron in the body’s blood circulation system. When symptoms occur gradually, they are often ambiguous, such as fatigue, weakness, shortness of breath, or a diminished capacity to exercise. The reason and severity of symptoms should be considered when treating the illness in accordance with the general guidelines. If iron-deficiency anemia is caused by blood loss or another causative agent, treatment focuses on resolving the underlying issue (Medicosis Perfectionalis, 2017). Utilizing the methodology of prescribing supplements, oral iron additives are used to treat various cases of iron deficiency anemia. In serious symptomatic patients, treatment actions, including blood transfusions or intravenous iron, are used to control the situation in the meantime (Medicosis Perfectionalis, 2017). What concerns the case conditions, Zachary’s physician believes he has a mild form of the disorder and prescribed a specific supplement to replenish his low hemoglobin.

References

Kraus, C., Vanicek, T., Weidenauer, A., Khanaqa, T., Stamenkovic, M., Lanzenberger, R., Willeit, M. & Kasper, S. (2018). DiGeorge syndrome. Wiener Klinische Wochenschrift, 130(7), 283-287. Web.

Medical Centric. (2018). [Video]. YouTube. Web.

Medicosis Perfectionalis. (2017). [Video]. YouTube. Web.

Sullivan, K. E. (2019). Chromosome 22q11. 2 deletion syndrome and DiGeorge syndrome. Immunological Reviews, 287(1), 186-201. Web.

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