By M. Kayor. Claremont Graduate University.
Females who have one copy of the PLP gene with a mutation and one normal copy are called carriers purchase viagra extra dosage 150 mg visa. Inheritance PMD is passed on through families by X-linked IPelizaeus-Merzbacher disease recessive inheritance purchase 150 mg viagra extra dosage fast delivery. Females pass on one of their X Pelizaeus-Merzbacher disease (PMD) is a neurolog- chromosomes to their sons or daughters generic viagra extra dosage 200mg on-line. If the normal X ical condition that affects myelin discount viagra extra dosage 200mg with visa, the insulation sur- chromosome is passed on, her son or daughter will be rounding the nerves in the brain and spinal cord. However, if the X chromosome with the PLP mutation is passed on, a daughter will be a carrier while the son Description would have PMD. Merzbacher, who first described the child (son or daughter), a 25%, or one in four chance of condition in the late 1800s. The severity of characteristics having a carrier daughter, and a 25%, or one in four in PMD can range from mild to severe. The brain Mutations and the spinal cord together are called the central nervous system. Everyone in a family who has the con- dition or is a carrier has the exact same PLP mutation. Genetic profile The most common type of mutation is a duplication (dou- PMD is caused by a mutation or change in the prote- bling) of the PLP gene. Having this tions to make proteolipid protein, one of the proteins that extra copy causes the myelin to be abnormal and leads to make up myelin in the central nervous system. About 50–75% of people with PMD have a PLP GALE ENCYCLOPEDIA OF GENETIC DISORDERS 899 duplication. A point mutation peripheral neuropathy, which is a problem with the is like a typo in the gene. This typo changes the message nerves that run from the spinal cord through the body. A This can cause weakness and problems with sensation few patients with PMD have a deletion of the PLP gene (telling if something is hot or cold, for example). They may have mild to copies of the PLP gene if they are male or one copy if moderate mental retardation. Another 5–20% of patients have charac- There are some people who have PLP mutations who teristics of PMD, but no mutation has been found in their are very mildly affected. Scientists are working to determine the cause times have other problems such as a spastic bladder. Although these individuals have mutations in the PLP gene, their condi- Demographics tion is given a different name, spastic paraplegia 2 PMD has been described in people from all over the (SPG2). The condition is rare and estimated to affect approximately Diagnosis one in 300,000 individuals in the United States. When problems are first noticed in an infant or a child, they will usually be referred to a pediatric neurol- Signs and symptoms ogist who is specially trained in diseases of the nerves There is a range in the severity of symptoms of and muscles in children. Rough categories have been set up based on the rologist will perform a clinical examination to evaluate age of onset and severity of symptoms. Patients with differ- should be taken to determine if there are others in the ent severities have been seen in the same family. In the most severe form of PMD, symptoms are first One of the initial tests that may be ordered is mag- noticed shortly after birth or in infancy. One of the first signs usually noticed is the brain are taken and the amount of white matter in the nystagmus, a side-to-side jerking of the eyes. Patients can have white matter is usually significantly reduced compared to significant mental retardation and never learn to walk, normal. They may have noisy breath- other neurological conditions and is not specific to PMD. Seizures may be Therefore, an MRI can be helpful in making the diagno- present in these children.
It also can induce B-lymphocyte prolifera- either from donors in the general population or from tion cheap 130 mg viagra extra dosage, activate macrophage activity order viagra extra dosage 130 mg with visa, and augment the hyperimmunized donors buy viagra extra dosage 200mg mastercard. Patients with renal cell Use of Myeloid carcinoma or melanoma have been effectively treated Colony–Stimulating Factors with rIL-2 in combination with adoptive transfer im- munotherapy viagra extra dosage 200mg low price. Acute myeloid leukemia Systemic administration of rIL-2 causes fever, nau- GM-CSF Aplastic anemia sea, vomiting, fatigue, and malaise. Other adverse af- Myelodysplasia G-CSF Congenital neutropenia fects include flushing, diarrhea, chills, rash, edema, Chemotherapy-induced neutropenia symptomatic hypotension, and certain renal abnormali- Cyclic neutropenia ties. They include diarrhea, asthenia, rash, malaise, Myeloid Colony–Stimulating Factors fever, headache, bone pain, chills, and myalgia. Many of these effects can be ameliorated by the administration Recombinant granulocyte-macrophage colony–stimu- of analgesics and antipyretics. These factors are normally produced in the body also show promise as immunostimulators, principally as by monocytes, fibroblasts, and endothelial cells. GM- adjuvants in the treatment of viral and malignant disor- CSF induces bone marrow progenitor cells belonging to ders. It is in clinical trials in pa- Results of several phase 1 and phase 2 clinical trials tients with refractory cancer and myelodysplastic syn- suggest that these cytokines are well tolerated. Trials also are ongoing with rIL-3, a multipotent effects are those commonly observed following the ad- factor that stimulates the growth of monocytes, erythro- ministration of molecules produced by biotechnological cytes, neutrophils, and megakaryocytes. Cytotoxic agents such as azathioprine are effective globulin contains antibodies against the Rh antigen. Azathioprine is a phase-specific cytotoxic agent by inhibiting purine synthesis that functions by inhibiting purine synthesis. The (D) Induce the synthesis of antiidiotype antibodies other answers are wrong because azathioprine is (E) Alkylate and cross-link DNA, preventing blas- nonspecific, is not an alkylating agent, has no effect togenesis on immune complexes, and does not induce anti- 3. IL-2 stimulates the immune system by binding (A) Attach to the HIV virus, making it more sus- to the IL-2 receptors on responsive immune cells, ceptible to phagocytosis causing differentiation and proliferation of T helper (B) Bind to IL-2 receptors on responsive immune and T cytotoxic cells. It has no direct effect on the cells and stimulate the production of T helper and T HIV virus, complement. The boy has significantly reduced serum anti- (C) Cross-link antibodies on mast cell surfaces body levels and a reduced ability to mount an anti- leading to degranulation. The most (D) Activate the complement cascade by binding probably cause is a primary immunodeficiency dis- to the C5a fragment. The primary side effect of cyclosporine therapy stimulating the immune response is nephrotoxicity, occurring in up to 75% of cases. A 4-year-old boy has significantly reduced levels of Unwanted hair growth and neurotoxicity are also IgA, IgM, IgD and IgE in his blood. The other answers are wrong be- strates that he did not develop the appropriate anti- cause cyclosporine therapy is associated with hyper- body titer following standard childhood vaccina- tension, hyperkalemia, and hyperglycemia. The most probable cause of these deficiencies are no references to cyclosporine having cardiac or is immune complex effects or causing hemorrhagic (A) Deficiency in macrophage function that is pre- cystitis. Exploring treatment op- ment cascade tions in renal transplantation: The problems of (C) Alcohol abuse by the mother during pregnancy chronic allograft dysfunction and drug-related (D) A primary immunodeficiency disease that is nephrotoxicity. Immunosuppressive agents in trans- (E) An autoimmune disease targeted at basophil plantation: Mechanisms of action and current anti- surface receptors rejection strategies. New Immunosuppressive (B) Nephrotoxicity, neurotoxicity, hirsutism Modalities and Anti-rejection Approaches in Organ (C) Thrombocytopenia, hypokalemia Transplantation. Growth Factors: Cell (E) Increase circulating immune complexes, car- Growth, Morphogenesis, and Transformation. In choosing tissues and organs for transplan- Fplant, Mary Smith developed jaundice and a tation, the HLA antigens of donors and patients are skin rash on her hands, feet, and face. She also had matched as closely as possible to decrease the risk occasional episodes of vomiting and diarrhea. However many minor antigenic mark- Clinical chemistry results showed her serum liver ers that can cause immunological incompatibility enzymes (LDH, ALT) and bilirubin level to be ele- differ between individuals.