1. Many children with Tay-Sachs disease develop

1. Many children with Tay-Sachs disease develop blindness before they die, with retinal accumulation of gangliosides that produces a. Optic neuritis b. Cherry red spots c. Chorioretinitis d. Retinal detachments e. Waxy exudates 3. A 35-year-old woman has prenatal testing done. The testing reveals that her child will have phenylketonuria (PKU). With PKU, serum may exhibit dangerously high levels of a. Creatine phosphokinase (CPK) b. Nicotinamide c. Phenylketone d. Lactate dehydrogenase e. Phenylalanine 5. A 6-month-old child is noted to have head lag, tongue fasciculations, and bilateral abducens palsies. MRI scan reveals a type 2 Chiari malformation. Which of the following defects would this child be likely to have? a. A renal cyst b. Pulmonary atelectasis c. Spina bifida d. Holoprosencephaly e. A hepatic cyst 6 A 50-year-old man complaining of dizziness is found to have a cyst occupying 50% of his posterior fossa and incomplete fusion of the cerebellar elements inferiorly. There is no evidence of an obstructive hydrocephalus. His longevity can be estimated to be a. Less than 3 months b. Less than 1 year c. Less than 5 years d. Less than 10 years e. Unaffected by this finding 7.Admission studies include a hematocrit of 55% and a routine urinalysis, which reveals excess protein and some RBCs in the urine. Urine culture is negative. The initial physical examination reveals an enlarged liver and spleen. Additional physical findings will most likely include a. A Kayser-Fleischer ring around the cornea b. Hypopigmented (ash leaf) spots on the trunk c. Telangiectasias in the fundi on retinal examination d. Bilateral hearing loss e. Generalized hyporeflexia 8 A 5-year-old boy has mental retardation, homonymous hemianopsia, and hemiparesis. He had infantile spasm and still has epilepsy. Head CT reveals calcifications in the cerebral cortex in a railroad track pattern. Which of the following does this child most likely have? a. Glioblastoma multiforme b. Oligodendroglioma c. Acoustic schwannoma d. Craniopharyngioma e. Sturge-Weber syndrome 9. A 9-year-old boy has been generally healthy. However, his parents are concerned that his many areas of hyperpigmented skin may have some significance. They have been told that these are café au lait spots. Café au lait spots are commonly found on patients with a. Tuberous sclerosis b. Neurofibromatosis c. MS d. Sturge-Weber syndrome e. Ataxia telangiectasia 10. A child is born to a 19-year-old woman who has had two to eight drinks per day throughout her pregnancy. What is the major pathologic effect of alcohol on the central nervous system of the developing fetus? a. Cerebral ischemia b. Periventricular hemorrhage c. Macrocephaly d. Impaired neuronal migration e. Holoprosencephaly 11 A 21-year-old right-handed female student was working in the photography lab 1 week ago, which required standing all day. After that, she experienced a cold sensation in the left foot and her entire left leg fell asleep. The feeling lasted 4 to 5 days and then slowly went away. Her right lower extremity was fine. Coughing, sneezing, and the Valsalva maneuver did not worsen her symptoms. She had a slight back pain, which she thought was due to using a poor mattress. Past history includes an episode of optic neuritis in the left eye 2 years ago. At that time, she was reportedly depressed and was sleeping constantly. One day, her left eye became blurred and her vision went out. In 1 week, her vision returned to normal. Her vision now is 20/20. She has not had a repeat episode since then. She had an MRI of her brain, which was normal at that time. She drinks alcohol occasionally and does not use any illicit drugs. Her only medication is birth control pills. Examination is significant for brisk reflexes and sustained clonus at the right ankle. Babinski sign is present on the right. Testing is positive for oligoclonal bands. On briskly flexing the neck forward, a patient with this disease may report a. Dystonic posturing of the legs b. An electrical sensation radiating down the spine or into the legs c. Bilateral wristdrop d. Spontaneous evacuation of the bladder and bilateral extensor plantar responses e. Rapidly evolving hemifacial pain 12 A 35-year-old man with multiple sclerosis initially presented 4 years ago with left eye optic neuritis. He did not receive steroids at that time. Two years ago he had loss of sensation in his hands that progressed over weeks to motor involvement, limiting his ability to write with the left hand. He received steroids at that time. He began interferon β-1A 4 years ago. One year ago, he developed right leg weakness, constipation, and urinary urgency. He received steroids at that time as well. He now presents with new symptoms that concern him about the start of a new flare. Two days ago, he noticed decreased sensation in the palm of his right hand that is worse when he exercises. This has gotten a little worse over the last 2 days. Yesterday, he noticed diminished sensation along the lower right trunk in the front and back. He has no pain, tingling, exacerbation of symptoms with neck movement, neck injury, incontinence, gait disturbance, diplopia, fever, chills, nausea, or vomiting. Examination findings include full visual fields with a left afferent pupillary defect. Bulk, strength, and tone are normal. Light touch is decreased over the left trunk and back over roughly the T8 to T12 dermatomes. Finger tapping, rapid alternating movements, finger-nose-finger, and heel tapping to shin are normal. The most appropriate pharmacological treatment for this patient at this time is a. Interferon β-1B b. Corticosteroids c. Gabapentin d. Glatiramer e. Pramipexole 13. A 32-year-old South African woman develops irritability, sleeplessness, and fatigue. Her family believes that she is depressed, but neurologic assessment establishes prominent short- and long-term memory problems. She has anemia and an obvious dermatitis on her face. Her diet is strictly vegetarian and limited almost entirely to grains, such as corn. She has deficiency of a. Vitamin D deficiency b. Thiamine (vitamin B1) deficiency c. Nicotinic acid deficiency h. Kwashiorkor e. Vitamin C deficiency 14 A 4-year-old boy develops progressive gait ataxia and limb weakness over the course of 3 months. Neurologic assessment reveals diffusely absent deep tendon reflexes, proximal muscle weakness, ophthalmoparesis, and poor pain perception in the feet. Blood tests reveal elevated creatine phosphokinase (CK) levels and abnormally high serum bilirubin levels. Further investigations of hepatic function reveal that the child has a cholestatic hepatobiliary disorder, but there is no evidence of hepatic dysfunction sufficient to cause an encephalopathy, He has deficiency of a. Deficiency amblyopia b. Vitamin B12 deficiency c. Pyridoxine (vitamin B6) deficiency d. α tocopherol (vitamin E) deficiency e. Vitamin D deficiency A 13-year-old right-handed male is brought to the emergency room (ER) following a moderate speed motor vehicle accident (MVA). The patient was an unrestrained front-seat passenger but was not ejected during the head-on collision (approximately 35 to 40 mph). According to the paramedics accompanying the patient there was significant front-end damage to the car, and the patient’s head appears to have impacted the windshield. On arrival at the scene approximately 4 minutes after the accident, the patient was found to be unresponsive with flaccid muscle tone, bradycardia, and inadequate respiratory effort. His cervical spine was immobilized, he was intubated to maintain adequate ventilation, and he was transported to the ER secured to a rigid backboard. On examination he is afebrile with irregular respiratory effort over the ventilator. Noxious stimulation of his face produces some grimacing, but there is no response to such stimulation of the extremities. There is a large contusion over his forehead but no other external signs of trauma. On neurologic examination his pupils are equally reactive to light, and he has a brisk corneal reflex bilaterally, but there is no gag reflex. His muscle tone is significantly decreased in all four extremities, and he is areflexic throughout including his superficial abdominal reflexes. His rectal sphincter is patulous, and there is no anal wink. According to the patient’s father the child was healthy and neuro developmentally normal prior to this accident. He is on no medications and has no known allergies. sl61 â—† What is the most likely diagnosis? â—† What is the next diagnostic step? A 21-year-old college student presents with a 4 week history of frequent falls and difficulty jogging. This athletic woman states she noticed that she was frequently tripping when walking and falling when jogging. She often “stubs” her right toe and misses steps when climbing stairs. She is quite distressed because of concerns that she will not be able to function as catcher on the intercollegiate softball team. Her past medical history is not significant. On physical examination, her general examination is normal. Her neurologic examination is significant for decreased ankle dorsiflexion and eversion of her right foot. There is mild muscle atrophy and visible muscle “twitches” of the lateral lower right leg muscles not seen on the right. The sensory examination shows decreased sensation to light touch and pin prick of the lateral aspect of her lower right leg and foot. The patient has normal coordination and normal reflexes. * What is the most likely diagnosis? * What is the next diagnostic step? * What is the next step in therapy SCIENCE HEALTH SCIENCE NURSING ANATOMY CCBS1

******CLICK ORDER NOW BELOW AND OUR WRITERS WILL WRITE AN ANSWER TO THIS ASSIGNMENT OR ANY OTHER ASSIGNMENT, DISCUSSION, ESSAY, HOMEWORK OR QUESTION YOU MAY HAVE. OUR PAPERS ARE PLAGIARISM FREE*******."