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Case 1
Diagnosis
If I were the doctor, I would diagnose Kate with Down Syndrome. This is a genetic disease caused by an anomaly of the 21st chromosome, which manifests itself in the form of mental retardation, heart defects, and developmental disorders (Bull, 2020). It is often characterized by the facial features that Kate has.
Etiology
The most common is regular trisomy, when the extra 21st chromosome is detected in almost all cells of the culture. The existence of extra copies of genes on the 21st chromosome changes the development of the fetus during pregnancy, and continues to affect the child after birth and throughout life (Bull, 2020).
Biggest Risk Factor
The risk of having a child with Down syndrome for a woman increases from the age of 35 and reaches 1% by the age of 39 (Bull, 2020). Of the total number of newborns with Down’s disease, more than 20% are born to mothers over 35 years old (Bull, 2020). In addition, risk factors are the presence of hepatitis B or C in the mother, tuberculosis, rubella, or Botkin’s disease.
Affecting Patient
This disorder will affect Kate by making her more inquisitive, open, and very sociable. However, due to the disease, she will have mild or moderate mental retardation.
Diagnosis Before Birth
To determine this disorder before Kate’s birth, a chorion biopsy and amniocentesis could be performed.
Disease Research
Autosomal Dominant Disease: Huntington’s disease
Etiology
Huntington’s disease is most often found in populations of European origin, including the territories of the USA and Canada (Gonzaga-Jauregui & Lupski, 2021). The disease belongs to a group of neurodegenerative diseases caused by so-called dynamic mutations which are the expansion of trinucleotide repeats.
Signs & Symptoms
When analyzing motor disorders, hyperkinesis – violent movements can be distinguished. These include chorea, athetosis, dystonia, tremor, myoclonia, and ballism. Another group of motor symptoms is represented by disorders of voluntary movements, for example, oculomotor disorders.
Diagnosis
The combination of the characteristic clinic, the progressive nature of the disease, and the autosomal dominant type of inheritance suggest the presence of Huntington’s disease in a particular patient with a high degree of probability. Huntington’s disease is one of the most severe progressive hereditary degenerative diseases of the nervous system (Gonzaga-Jauregui & Lupski, 2021). His clinical picture is represented by motor, cognitive, and mental disorders.
Treatment & Prevention
Currently, an effective evidence-based disease-modifying therapy for Huntington’s disease has not been developed, the disease remains largely incurable. In these conditions, solving the problems of primary and secondary prevention of Huntington’s disease is of the utmost importance. Primary prevention implies the prevention of conception of a child with a pathological phenotype, therefore, the main measures in this case are various methods of family planning and childbirth. Secondary prevention includes methods of prenatal diagnosis.
Autosomal Recessive Disease: Tay–Sachs disease
Etiology
The accumulation of gangliosides in Tay–Sachs disease leads to the destruction of neuronal membranes, as a result of which patients experience a delay in motor development and mental and physical development is disrupted.
Signs & Symptoms
The most common neurodegenerative signs of Tay–Steach disease are muscular hypotension, inability to sit and hold the head independently, involuntary eye movements, dysphagia, convulsions, and diffuse hypomyelination of the white matter of the brain.
Diagnosis
A clear diagnostic sign in patients with Tay–Sachs disease is the presence of a red macula spot on the retina of the eye. An important diagnostic method for Tay–Sachs disease is enzyme diagnostics to assess the enzymatic activity of HexA in plasma using synthetic substrates (Gonzaga-Jauregui & Lupski, 2021).
Treatment & Prevention
The basis of the symptomatic treatment of Tay–Steach disease is anti-inflammatory and anticonvulsant drugs to slow the progression of the disease. Since the disease is characteristic of certain ethnic groups, its prevention will be a genetic test before the conception of a child for both parents who are at risk.
Sex-Linked Disease: Hemophilia
Etiology
The genes responsible for the disease hemophilia type A and B are located on the X chromosome. The factor VIII gene has about 186 thousand pairs of nucleotides, defects of this gene can be different: duplications, deletions, shift of the reading frame, and inclusion of new bases (Gonzaga-Jauregui & Lupski, 2021). In more than half of the cases, the inversion of the nucleotide sequence occurs.
Signs & Symptoms
The main and the only clinical sign of hemophilia is a tendency to bleed. Spontaneous bleeding is frequent in people with a severe form of the disease, and blood clotting tests always reveal pathology.
Diagnosis
Spontaneous and traumatic hemorrhages are most often manifested by hemarthrosis, and subcutaneous hematomas often form. Hemarthrosis is the most common problem in patients with hemophilia from early childhood, they lead to the development of chronic syphilis, arthropathies, and contractures.
Treatment & Prevention
The treatment of hemophilia consists of the relief of hemorrhagic syndrome and the treatment of its complications, as well as accompanying conditions complicated by the underlying disease. For the treatment of hemophilia, a constant introduction of the missing coagulation factor is used. Prevention is the conduct of genetic tests of both parents before conception if there is a suspicion of kinship between them.
Case 3
Diagnosis
The disease that should be considered is infectious endocarditis. This is a disease of septic genesis with a predominant lesion of the valvular or parietal endocardium, characterized by the rapid development of valvular insufficiency, systemic embolic complications, and immunopathological manifestations.
Treatment
The scheme of antibiotic therapy in the treatment depends on the pathogen, the patient’s age, kidney function, sensitivity to penicillin, and the condition of the valve itself since in this case, it is native. In the future, surgical treatment will eliminate not only the failure of the valve but also the focus of infection.
Congenital Heart Disease
Congenital heart disease associated with a heart murmur is an atrial defect. This is a defect in the structure of the heart and large vessels, present from birth (Lilly, 2020). It disrupts the blood flow inside the heart or through the large and small circulatory circles.
Case 4
Type of Heart Disease
The patient is experiencing coronary heart disease. This is a pathological condition that is characterized by an absolute violation of the blood supply to the myocardium, due to damage to the coronary arteries. It is this condition that causes the sensations described by the patient.
Diagnostic Test
I would expect the physician to order a BNP/NPproBNP measurement as they can confirm or deny heart failure (Lilly, 2020).
Treatment
Taking into account the patient’s age, he needs non–drug methods of treatment, namely surgical revascularization of the myocardium – coronary bypass surgery and balloon angioplasty with stenting of the coronary arteries.
References
Bull, M. J. (2020). Down Syndrome. The New England Journal of Medicine, 382(1), 2344–2352.
Gonzaga-Jauregui, C., & Lupski, J. R. (2021). Genomics of rare diseases: Understanding disease genetics using genomic approaches (translational and applied genomics). Academic Press.
Lilly, S. L. (2020). Pathophysiology of heart disease: An introduction to cardiovascular medicine. LWW.
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