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whiteguardian · Credits: 9523 My Scrapbook

Q. Patient, young, with obesity, hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, strabismus, and small hands and feet. What disease and what is treatment?

pingu81 · Credits: 690 My Scrapbook

is it lawrence moon biedl symdrome??

whiteguardian · Credits: 9523 My Scrapbook

Sorry

The answer is ---> Prader Willi Syndrome. Treat with GH .

A disorder of chromosome 15

Prevalence: 1:12,000- 15,000 (both sexes, all races)

Major characteristics: hypotonia, hypogonadism, hyperphagia, cognitive impairment, difficult behaviors

Major medical concern: morbid obesity

The genetic cause is loss of yet unidentified genes normally contributed
by the father. Occurs from three main genetic errors: Approximately 70%
of cases have a non-inherited deletion in the paternally contributed
chromosome 15; approximately 25% have maternal uniparental disomy
(UPD)—two maternal 15s and no paternal chromosome 15; and 2–5 %
have an error in the "imprinting" process that renders the paternal
contribution nonfunctional.

Diagnostic testing: Individuals who have a number of the clinical
findings should be referred for genetic testing. DNA methylation
analysis confirms diagnosis of PWS. FISH and DNA techniques can identify
the specific genetic cause and associated recurrence risk. (See ASHG/ACMG
Report, Am J Hum Genet 58: 1085, 1996.) Patients who had negative
or inconclusive tests with older techniques should be retested.

Major Clinical Features:

Neonatal and infantile central hypotonia, improving with age

Feeding problems and poor weight gain in infancy
Excessive or rapid weight gain between 1 and 6 years of age; central obesity in the absence of intervention

Distinctive facial features—dolichocephaly in infants, narrow face/bifrontal diameter, almond-shaped eyes, small-appearing mouth with thin upper lip and down-turned corners of mouth

Hypogonadism—genital hypoplasia, including undescended testes
and small penis in males; delayed or incomplete gonadal maturation
and delayed pubertal signs after age 16, including scant or no
menses in women

Global developmental delay before age 6; mild to moderate mental
retardation or learning problems in older children

Hyperphagia/food foraging/obsession with food

Minor Features

Decreased fetal movement, infantile lethargy, weak cry
Characteristic behavior problems—temper tantrums, violent outbursts, obsessive/compulsive behavior; tendency to be argumentative, oppositional, rigid, manipulative, possessive, and stubborn; perseverating, stealing, lying
Sleep disturbance or sleep apnea
Short stature for genetic background by age 15
Hypopigmentation—fair skin and hair compared with family
Small hands and/or feet for height age
Narrow hands with straight ulnar border
Eye abnormalities (esotropia, myopia)
Thick, viscous saliva with crusting at corners of the mouth
Speech articulation defects
Skin picking

whiteguardian · Credits: 9523 My Scrapbook

Next Question....

Q. Pt w/ symptoms include tall stature, ectopia lentis, mitral valve prolapse, aortic root dilatation, and aortic dissection? What gene is missing and what is treatment of choice?

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pingu81 · Credits: 690 My Scrapbook

my guess is marfan's??
defect in gene 15-fibrillin

whiteguardian · Credits: 9523 My Scrapbook

A. Marfan's Syndrome. Defect in fibrillin gene. Treat the aortic dissection with B-Blockers.

Marfan's Syndrome is an inherited (autosomal dominant) disorder, caused by a defective gene involved with the production of fibrillin. Fibrillin makes up part of connective tissue in the body, such as the blood vessels, eye lenses, and ligaments.

Signs and Symptoms

Patient has long, thin arms, legs, fingers, and toes.

Chest wall protrudes

Reduced vision and severe near-sightedness

Mitral valve prolapse

Aortic aneurysms (a bulge in the wall or the aorta, resembling a weak spot that bulges in an imperfect automobile tire) -- can have no symptoms; or might have fatigue, lightheadedness, and/or chest pain. Death may occur if the aneurysm ruptures.

Aortic Dissection (a torn area between the layers of the aortic wall, allowing blood to seep between the layers of the wall) -- can cause chest pain, tearing/ripping back pain, or death

Aortic Regurgitation -- chest pain, shortness of breath

Spontaneous Pneumothorax -- Collapsed Lungs may occur (severe, sudden shortness of breath)

Diagnosis

Mutations may be seen in chromosome 15, but no single test establishes the diagnosis.

Echocardiogram is performed to evaluate the patient's chest for an aortic aneurysm.

See section on Aortic Dissection for work up and management.

Ophthalmologic evaluation reveals lens dislocation and severe near-sightedness

whiteguardian · Credits: 9523 My Scrapbook

Q. Everyone is reporting that they MUST master the concept of transgenic mice. Here is one concept you must understand:
Transgenic mouse with defect in B2 microglobulin gene. What is the immuno defect?

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