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Explain mechanisms of pathogenesis of huntington disease
Assignment ID: FG133288415
Case of a 65-year-old Caucasian woman with no previous history of psychiatric disease until 2012 (60 years of age). At this point, she complained to her family doctor about low mood, reduced energy, and anhedonia. She was prescribed Sertraline 50 mg once a day and maintained the treatment for about 3 years with partial improvement, mainly in the first year.
At 63 years of age, she started complaining to her family doctor about nonspecific limb weakness without movement difficulties. A few months later (April 2015), she was admitted to hospital with a myocardial infarction and was discharged 5 days later with full recovery of coronary perfusion. She was followed in cardiology outpatient clinic for about one year and was discharged because of progressive noncompliance with medical treatment and prescribed medical exams.
During the months that followed the myocardial infarction, her depressive and motor symptoms gradually worsened, leading to eleven visits to the Psychiatric Emergency Room Service (ERS), where she was assessed by Psychiatry and Neurology with complaints of anxiety, low mood, social isolation, deficits in memory retrieval, unspecific pain, and limb weakness with progressive development of abnormal gait. She left the ERS before full medical evaluation multiple times and never accurately followed medication changes that were suggested.
After several visits to the ERS, she was referred to Psychiatry and Neurology outpatient clinics. At Psychiatry consultation, she was, once again, medicated for anxiety and depressive mood, with Duloxetine 30 mg and Gabapentin 300 mg daily.
Simultaneously, she was evaluated in a Neurology appointment because of diminished force and limitation of limb movements. The neurological examination noted unspecific wide-based gait, enhanced bilateral reflexes, and abolished bilateral postural sensitivity. Blood samples showed low folic acid (3,9 ng/mL), which was considered as partial justification for neurological findings and reposition with folic acid was initiated. Additionally, more exams were requested.
One month before the admission at our Acute Inpatient Unit (AIU) that leads to the diagnosis of HD, the patient was, once again, evaluated in the Psychiatric ESR. On observation, the patient showed worsening of mood status, increased pressure of speech, pseudo hallucinations (patient described the following: “a TV host speaks with me, he guides me and tells me to do certain things”), and suicidal ideation. She was started treatment. However, behavior changes were maintained and even aggravated (she took her clothes off at the window, broke some lamps at home and was aggressive to her sister), eventually leading to the admission to the psychiatric ward.
The mental state examination at our unit showed low mood and partial disorientation in time. She was unable to provide dates of important life events saying repeatedly “I don’t remember” and scored 14/30 at Mini-Mental State Examination (MMSE). Because of her depressive symptoms and cognitive changes, diagnosis of Major Depressive Disorder/Pseudodementia was assumed. She was discharged 12 (twelve) days later with improved mood, but she still presented abnormal sustained gait, which was interpreted as a comorbid Conversion Disorder.
The Computed Tomography (CT) and Electromyography did not reveal any significant alterations. Therefore, at the subsequent Neurology appointment, patient was discharged with diagnosis of Conversion Disorder.
After hospitalization, she did not follow the prescribed medication and her abnormal behavior was maintained, such as not cleaning her house and throwing clothes away, so she was referred again to the Psychiatric ERS. At the mental state examination she endorsed soliloquies, depressive mood with catathymic delusions, and suicidal ideation and was disoriented to time and place. For that reason, she was readmitted to the Psychiatry ward on March 2017.
During hospitalization the abnormal gait and movements were still obvious; therefore the case was referred to the Neuropsychiatry Team (NT). The NT considered that the psychiatric symptoms of the patient, in addition to the hyperkinetic motor ones, especially in the upper limbs and cervical area (chorea), were in favor of the diagnosis of HD. Genetic test revealed 39 (±2) triplets on one huntingtin allele, confirming the diagnosis.
The chorea was controlled with high doses (30 mg/day) of oral haloperidol. The depressive mood and psychotic symptoms remitted with Haloperidol and Venlafaxine. The Venlafaxine was suspended a few days later, because the patient developed moderate maniac symptoms. Later on, for reappearance of low mood, Sertraline was initiated with good response.
Cognitive functions were assessed using the Clock Drawing Test: she was able to draw the contour but could not draw numbers and clock hands. Mini-Mental State (MMS): 14/30 (the same result) and Montreal Cognitive Assessment (MOCA): 7/30.
At the moment of discharge to a special unit for rare diseases, she was euthymic, with proper conduct and without choreiform movements, although she still presented residual symptoms, namely, apathy, cognitive impairment, and overvalued ideas of ruin, conditioning severe limitations in her daily life, which made it impossible to live without continuous support. She will maintain follow-up by the Neuropsychiatry Team.
1. What did you learn about clinical features of Huntington disease from these case studies? Add information about clinical manifestation which has not been mentioned.
2. How do you explain mechanisms of pathogenesis of Huntington disease? What is type of mutation that causes HD?
3. What kind of clinical forms of HD you know?
4. How could HD appear in a family that has no history of the disorder?
5. How do you get diagnosed with Huntington disease?
6. Are there any treatments of Huntington’s disease? Can it be cured?
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