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1.
Clin Genet ; 17(1): 1-12, 1980 Jan.
Article in English | MEDLINE | ID: mdl-7389180

ABSTRACT

A follow-up study of 212 families for whom genetic counseling had been provided was performed to assess the effectiveness of the non-directive genetic counseling service at the Mount Sinai Medical Center in New York City. The preliminary result have been reported previously (Godmilow & Hirschhorn 1977). Of those families surveyed, 72% responded. Adequate recall of the genetic information was demonstrated by 74% of those responding, and 80% described their counseling experience as favorable. A direct relationship was noted between the degree of satisfaction and whether or not the counselees received the mode of counseling they preferred, i.e., individual versus team. Sixty-two percent of those counselees reaching a procreative decision indicated that genetic counseling had influenced their decision making. A significant correlation was noted between the magnitude of the occurrence or recurrence risk and the procreative decisions reached. However, some decisions were modified by the counselees' subjective interpretation of the burden associated with the disorder in question. It is concluded that follow-up of genetic counseling by questionnaire, together with statistical analysis of the data received, can provide the genetic center with valuable information regarding strengths and weaknesses of the counseling program and can suggest ways to improve the counseling process and thereby enhance its effectiveness.


PIP: 212 families counseled at the genetic clinics a between 1970 and 1975 were followed up to measure the success of nondirective genetic counseling service offered by the Mt. Sinai Medical Center in New York and to identify areas of difficulty of the program. 83% of the families were white, 15% were Hispanic and 2% were black. Most of the families desired to have additional children (most already had 1 child with a possibly inherited disorder). Written questionnaires were sent to the families, 72% of whom responded. 74% of the respondents had adequate recall of genetic information, and 80% stated that their counseling experience was favorable. A direct relationship was observed between degree of satisfaction and whether or not counselors received the mode of counseling they preferred (e.g., individual vs. team). 62% who decided to have another child reported that their decision was influenced by genetic counseling. Magnitude of occurrence/recurrence risk significantly correlated with procreative decision reached. Procreative decisions however were modified somewhat by the counselor's subjective interpretation of burden associated with the disorder in question. Follow-up studies of genetic counseling programs are informative and should be made an integral part of genetic counseling.


Subject(s)
Genetic Counseling , Congenital Abnormalities/diagnosis , Decision Making , Family Planning Services , Female , Follow-Up Studies , Humans , Infant, Newborn , Male , Pregnancy , Pregnancy Complications , Risk , Surveys and Questionnaires
2.
Arch Ophthalmol ; 97(10): 1937-40, 1979 Oct.
Article in English | MEDLINE | ID: mdl-485920

ABSTRACT

A study was undertaken to determine whether the antiesterase activity of echothiophate iodide would prevent the conversion of dipivefrin to epinephrine. Dipivefrin was administered singly and in combination with echothiophate to 24 adult rabbits. Administration of dipivefrin lowered the intraocular pressure (IOP) 8 +/- 1 mm Hg (P less than .001). When echothiophate was given before and concomitant with dipivefrin, there was no further decrease in IOP compared with that produced by echothiophate alone (5 +/- 1 mm Hg). Addition of epinephrine to eyes receiving dipivefrin plus echothiophate resulted in a significant additional decrease in IOP of 4 +/- 1 mm Hg (P less than .001). When echothiophate was given after dipivefrin had lowered the IOP and both drugs were continued, the IOP rose to baseline levels. These results fit the theory that the esterase converting dipivefrin to epinephrine is inactivated by cholinesterase inhibitors. The clinical use of cholinesterase inhibitors and dipivefrin may be contraindicated.


Subject(s)
Echothiophate Iodide/pharmacology , Epinephrine/analogs & derivatives , Esterases/antagonists & inhibitors , Intraocular Pressure/drug effects , Administration, Topical , Animals , Biotransformation/drug effects , Drug Combinations , Drug Interactions , Echothiophate Iodide/administration & dosage , Epinephrine/administration & dosage , Epinephrine/metabolism , Female , Ophthalmic Solutions , Rabbits
3.
Mutat Res ; 50(1): 93-100, 1978 Apr.
Article in English | MEDLINE | ID: mdl-347282

ABSTRACT

A staining technique that detects sister-chromatid exchanges (SCEs) has been used to examine the response of human lymphocyte chromosomes to various dosages of X-irradiation. The SCE frequency was markedly increased following irradiation. However, the increase was of a significantly smaller magnitude when irradiation occurred in the presence of an antimutagenic agent. Scoring SCEs may provide a useful technique for assaying the mutagenic effects of environmental carcinogens as well as the protective effects of antimutagenic agents.


Subject(s)
Chromosomes/radiation effects , Crossing Over, Genetic/drug effects , Cysteine/pharmacology , Cytological Techniques , Dose-Response Relationship, Radiation , Humans , Lymphocytes/radiation effects , Lymphocytes/ultrastructure , Radiation-Protective Agents , X-Rays
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