By K. Snorre. Bluefield College.
GALE ENCYCLOPEDIA OF GENETIC DISORDERS 895 Signs and symptoms Jaworski sildigra 100 mg online erectile dysfunction protocol pdf download free, Anna Marie buy 50mg sildigra free shipping impotence massage, ed. Baltimore: Johns symptoms of PDA, unless the ductus arteriosus size is Hopkins University, 1992. Children and adults with a large ductus arteriosus ORGANIZATIONS can show difficulty in breathing during moderate physi- CHASER (Congenital Heart Anomalies Support, Education, cal exercise, an enlarged heart, and failure to gain weight. Diagnosis is most often made by detecting the char- WEBSITES acteristic “machinery” heart murmur heard by a doctor Berger, Sheri. Jacob, MS Treatment and management The treatment and management of PDA depends PC deficiency see Pyruvate carboxylase upon the size of the PDA and symptoms being experi- deficiency with lactic acidemia enced by the affected individual. In preterm infants experiencing symptoms, the first step in correct- ing a PDA is treatment through medications such as IPedigree analysis indomethacin. In preterm infants whose PDA is not closed through medication, full term infants affected by Definition PDA, and adults, surgery is an option for closing the duc- A pedigree is a family tree or chart made of symbols tus arteriosus. A cardiologist can help indi- Pedigree analysis is an assessment made by a medical viduals determine the best method for treatment based on professional about genetic risk in a family. Prognosis Purpose Adults and children can survive with a small open- Pedigrees are most often constructed by medical ing remaining in the ductus arteriosus. People are referred to ing surgery, of a larger PDA is usually successful and genetic professionals because of concern about the pres- frequently occurs without complications. For 896 GALE ENCYCLOPEDIA OF GENETIC DISORDERS instance, family members may experience guilt or shame about passing on a genetic trait. Thus, the communication KEY TERMS process involved in taking the family history may allow the health care provider to identify areas in which the Autosomal—Relating to any chromosome besides patient may need reassurance, education, or emotional the X and Y sex chromosomes. Creating a pedigree Consanguinity—A mating between two people who are related to one another by blood. Pedigree symbols Dizygotic twins—Non-identical twins that usually A standard set of symbols has been established for occur when two sperm fertilize two separate eggs use in creating pedigrees. When a person is Obligate carrier—An individual who, based on affected with a birth disorder, mental retardation, or other pedigree analysis, must carry a genetic mutation health problems, the individual is shaded or marked. Parents of a child more than one condition is present in a family, different with an autosomal recessive disorder are obligate identifying marks should be made. Pedigree patterns Information obtained Autosomal dominant inheritance A typical pedigree is made of information about Pedigree 1 illustrates the occurrence of an autosomal three generations of a family. NF is caused by questions should be asked about the health of first, sec- a single dominant gene on chromosome 17. First-degree relatives are who is affected with NF has a 50% chance to pass the children, parents, and siblings. The symptoms of NF are variable are half siblings, nieces, nephews, aunts and uncles, so that some family members are affected more seriously grandparents, and grandchildren. Important information to obtain on both nant inheritance, multiple generations of a family are sides of the family includes: affected. This is called vertical transmission of a trait • ages or dates of birth through a family. Males and females are equally likely to • presence of any birth disorders, learning problems, be affected. In a particular sibship, about half of the sib- chronic illnesses, surgeries, or medical treatments lings are affected. CF is a chronic respiratory disease characterized by • cause of death for deceased family members digestive problems and a shortened life span. A person • pregnancy losses, stillbirths, or infant deaths and causes with CF has two genes for the condition on chromosome • infertility in the family 7. Each parent is an obligate carrier of a gene for the con- • ethnic background of the families dition. When both parents are carriers, there is a one in four or 25% chance that each child they have together • consanguinity will be affected. In autosomal recessive inheritance, sib- It is important to establish the accuracy of infor- lings are most often affected rather than people in suc- mation given by patients. Since siblings are affected, this is are often requested in order to provide accurate risk called horizontal transmission of a disease in the family. Males and females are equally likely to be affected in this GALE ENCYCLOPEDIA OF GENETIC DISORDERS 897 Pedigree Symbols Pedigree 1: Neurofibromatosis Autosomal Dominant Inheritance Male Female Gende unknown Miscarriage Pedigree 2: Cystic Fibrosis Elective terminated Autosomal Recessive Inheritance of Pregnancy Affected female Affected male Carrier female Carrier male Pedigree 3: Hemophilia X-Linked Recessive Inheritance Deceased The illustration above identifies several common symbols used to represent individuals in a pedigree chart.
Bethanechol should not be used in patients with pos- Quaternary Ammonium Agents sible mechanical obstruction of the bladder or gastroin- testinal tract or when contraction of smooth muscles in Edrophonium (Enlon sildigra 120mg low cost erectile dysfunction medication online, Tensilon) and ambenonium these tissues may be harmful (e purchase 100mg sildigra otc erectile dysfunction dsm 5. Their positive charge al- bronchial asthma, peptic ulcer disease, coronary artery lows them to bind to the anionic site at the reactive cen- disease, gastrointestinal hypermotility or inﬂammatory ter, competitively displacing ACh from the active site disease, hypotension or marked bradycardia, hyperthy- without covalent modiﬁcation of the site. Care should be exer- has a very short duration of action, lasting only 5 to 10 cised in administering pilocarpine to elderly patients be- minutes, whereas inhibition by ambenonium can last 4 cause it can enter the CNS and affect memory and to 8 hours. Carbamates CHOLINESTERASE INHIBITORS Carbamate anticholinesterase agents are carbamic acid Inhibition of AChE slows or prevents the degradation of esters that are hydrolyzed by AChE in a manner similar ACh released at synapses, and this can greatly prolong to that of ACh. Carbamates have this general structure: the activation of cholinoreceptors produced by synapti- R O 1 cally released ACh. In a functional sense, the indirect cholinomimetic effect of AChE inhibitors is more selec- R2 N C O R3 tive than the effect of directly acting cholinomimetics, because the inhibitors of AChE increase the activation The clinically useful carbamates generally contain a of cholinoreceptors only at active cholinergic synapses. The inhibi- synaptically activated cholinoreceptors rather than the tion of AChE by neostigmine (Prostigmin) illustrates persistent activation by directly acting cholinomimetics. The quaternary ammonium At therapeutic concentrations, inhibitors of AChE do group of neostigmine binds electrostatically to the an- not activate cholinoreceptors at sites that do not receive ionic site of the enzyme, thereby orienting the drug. The cholinergic synaptic input, such as endothelial mus- serine oxygen at the esteratic site of the enzyme then carinic receptors, and therefore do not present the same reacts with the carbonyl carbon of neostigmine, just as it risk of eliciting large vasodilator responses. However, a carbamylated in- Acetylcholinesterase can be inhibited by two gen- termediate is formed instead of an acetylated one, and eral mechanisms. In the ﬁrst mechanism, positively this carbamylated enzyme undergoes hydrolysis much charged quaternary ammonium compounds bind to the more slowly. Whereas the acetylated enzyme is hy- anionic site and prevent ACh from binding—a simple drolyzed nearly instantly, the half-life for hydrolysis of competitive inhibition. In the second mechanism, the this particular carbamylated intermediate is about an agents act either as a false substrate for the cho- hour. The carbamates generally inhibit pseudo-ChE as linesterase or directly attack the esteratic site; in both well as true AChE, and their suicidal degradation by cases they covalently modify the esteratic site and non- cholinesterases contributes importantly to terminating competitively prevent further hydrolytic activity. Physostigmine (also called eser- mechanism can be effective in preventing the hydroly- ine) (Antilirium) is a tertiary amine that can inhibit 12 Directly and Indirectly Acting Cholinomimetics 127 AChE in the CNS, and it can be used in life-threatening Examples of X groups are ﬂuorine in isoﬂurophate cases to treat antimuscarinic poisoning. Neostigmine and pyridostigmine also and malathion (insecticides) are thiophosphates have direct agonist activity at nicotinic receptors on skeletal muscle. The organophosphates, except for echothiophate, The organophosphate compounds also react at the es- are very lipid soluble. In general, however, In the interaction of isoﬂurophate with AChE, a they are much less selective than are the carbamates, in- phosphorylated intermediate is formed and ﬂuoride is hibiting many enzymes that contain a serine molecule at released. The organophosphate compounds phate-induced inhibition is that the bond between the have this general structure: phosphate and the enzyme is very stable. While the re- O generation of most carbamylated enzymes occurs with a R1 half-life of minutes or hours, the recovery of a phospho- P rylated enzyme is generally measured in days. OH O OiC3H7 P HO OiC3H7 Isoflurophate H2O Spontaneous reactivation iC3H7O O P 2-PAM iC3H7O O iC3H7O F P F CH NOH OH iC3H7O O N OH CH3 Oxime reactivation Esteratic site H2O aging O O CH NO P OiC3H7 N iC3H7O P OH OiC H 3 7 CH3 O iC3H7OH FIGURE 12. This results in a stable phosphorylated enzyme intermediate, which undergoes dephosphorylation at a negligible rate (top). The original phosphorylated intermediate (center) will react with the nucleophilic oxygen of pralidoxime (2-PAM), resulting in dephosphorylation of the enzyme and formation of an oxime phosphonate (lower right). In contrast, the organophosphate insecticide parathion Pralidoxime chloride (2-PAM) (Protopam chloride) is requires metabolism (oxidative desulfuration) to be- an oxime used therapeutically to reactivate phosphory- come an effective insecticide. It has the additional feature that its qua- Metabolites of the cholinesterase inhibitors and in ternary ammonium group binds to the anionic site of some instances signiﬁcant amounts of the parent com- the enzyme and thereby promotes dephosphorylation. Renal excretion is If the oxime is not administered soon enough (minutes very important in the clearance of agents such as to hours) after AChE has been inhibited, an alkoxy neostigmine, pyridostigmine, and edrophonium. Once aging has occurred, elimination half-lives for these drugs in anephric pa- oximes can no longer regenerate free enzymes. Renal elimination is largely the result of of aging appears to depend both on the nature of the glomerular ﬁltration but probably also involves, at least enzyme (AChE or pseudo-ChE) and on the particular in the case of quaternary amines, secretion via the renal inhibitor employed. Basic Pharmacology Inhibition of AChE potentiates and prolongs the stimu- Inhibitors targeted at AChE in the CNS lation of cholinoreceptors resulting from ACh released Several inhibitors of AChE have been developed for use at cholinergic synapses (Fig. These inhibitors are struc- tion, adrenal medulla, autonomic ganglia, cholinergic turally unrelated and vary in their mechanism of inhibi- neuroeffector junctions of the autonomic nervous sys- tion, although all are reversible inhibitors.
Organi- zations and individuals brought judicial appeals of cer- tain court cases that threatened the legitimate licensing Because reflexology is intended to normalize the of reflexologists as practitioners of alternative medi- body functions purchase 120mg sildigra with amex erectile dysfunction doctor in kuwait, the therapy does not cause a condition to cine buy 100mg sildigra with amex impotence uk. Most patients find that pain diminishes over the RAA documented in detail the disparities between re- course of the therapy. It has been noted, however, that flexology and massage, citing the purpose of reflexolo- some patients experience greater discomfort in the sec- gy, which is to stimulate internal body functions ond session than in the first session, because a significant (glands and organs) as opposed to the topical muscular easing of pain and tension is generally associated with and joint relief associated with massage. As a result, when pressure is date in 1998 the Association reported that 19 states had reapplied to the tender points of the foot during the sec- laws requiring the licensing of massage/reflexology ond session, the sensitivity has been heightened. Licensing laws established educational re- crease in sensitivity may cause minor additional discom- quirements and required candidates to pass written, fort for the patient. Also at issue was a trend among municipalities to license massage parlors (and reflexologists) under the business codes affecting the adult entertainment busi- Although only one controlled trial of reflexology ness. Kunz reported that judicial decisions in therapy, done in 1993, has been documented in medical two states—Tennessee and New Mexico—had excluded journals, this therapy is practiced worldwide at different the practice of reflexology practice from the laws per- levels of medical care. Those courts held that re- censed physicians may legally perform reflexology treat- flexology is a business separate and distinct from mas- ment. In contrast, the practice is a commonplace home- sage parlors, and deserving of its own respective licens- style remedy in the Netherlands. In Sacramento, California, reflexologists Reflexology” lists at least 66 professional organizations petitioned successfully to become licensed as practition- worldwide, including New Zealand and Malaysia. Asso- ers of somatic therapy rather than as providers of adult ciations include the following: entertainment. Likewise, in the Canadian province of • Academy of Reflexology Austria Ontario, a nonprofit organization to register reflexology Therapist Barbara Rowedder channelling energy into the head of a woman with AIDS during a Reiki treatment. Once complete relaxation is achieved, the second component of the exercise is the imagery, or visualiza- tion, itself. Relaxation imagery involves conjuring up pleasant, relaxing images that rest the mind and body. If an individual is considering relaxation therapy to These may be experiences that have already happened, alleviate physical symptoms such as nausea, headache, or new situations. A complete physical examination and com- about an upcoming situation, such as, prehensive medical history will be performed, and even surgery, or even a critical event such as an important if an organic cause for the symptoms is found, relaxation competition or a job interview. Individuals imagine exercises may still be recommended as an adjunct, or themselves going through each step of the anxiety-pro- complementary, treatment to relieve discomfort. Relaxation therapy should always take place in a quiet, relaxing atmosphere where there is a comfortable place to sit or recline. Some people find that quiet back- ground music improves their relaxation sessions. If an Biofeedback, or applied psychophysiological feed- instructional audiotape or videotape is to be used, the ap- back, is a patient-guided treatment that teaches an indi- propriate equipment should be available. The name The relaxation session, which can last anywhere biofeedback refers to the biological signals that are fed from a few minutes to an hour, should be uninterrupted. These sensors measure muscle ten- sion, brain waves, heart rate, body temperature, and translate the information into a visual and/or audible Most commonly practiced relaxation techniques are readout, such as a paper tracing, a light display, or a se- completely safe and free of side effects. By monitoring this relation- should be taught or performed by a qualified healthcare ship between mind and body, he can then use thoughts professional or instructor. These treatments may not be and mental images deliberately to manipulate heart beat, suitable for individuals with certain health conditions brain wave patterns, body temperature, and other bodily such as arthritis or. This is should consult with their healthcare professionals before achieved through relaxation exercises, mental imagery, engaging in these therapies. Biofeedback may be contraindicated (not recom- mended) in some individuals who use a pacemaker or As the biofeedback response takes place, the patient other implantable electrical devices. These individuals can actually see or hear the results of his efforts instantly should inform their biofeedback therapist before starting through the sensor readout on the biofeedback equip- treatments, as certain types of biofeedback sensors have ment. Once these techniques are learned and the patient the potential to interfere with their use. Patients must be willing to take a very active role has a powerful, portable, and self-administered treatment in the treatment process, and to practice techniques tool to deal with problem symptoms. Antidote ORGANIZATIONS Nosode Tincture OTHER Restless leg syndrome Side effects Definition Description Interactions Resources BOOKS Causes & symptoms PERIODICALS 1728 GALE ENCYCLOPEDIA OF ALTERNATIVE MEDICINE 2 Retinal detachment refers to the movement or pulling of the retina away from the inner wall of the eyeball, resulting in a sudden loss vision. Allergies can be evaluated by blood tests, skin testing for specific substances, or nasal smears.