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Biomedical subjects

R M Goodman

Publications and source records attributed to R M Goodman.

At least 55 records · Page 3Linked to original sources
PubMed1991

Recruitment and retention of schools participating in school health research.

The quality of school health research projects can be enhanced by directing attention to recruitment and retention of schools. Successful recruitment plans go beyond research considerations to address political, economic, educational, and organizational needs of the school setting. Based on recent research, a taxonomy of decision-making procedures characteristic of school districts is presented. The taxonomy provides a framework for designing effective recruitment and retention strategies.

Decision Making↗
PubMed1990

Satisfaction with genetic counseling: dimensions and measurement.

Patient satisfaction has become a significant issue in evaluating medical care, although it has been largely neglected in genetic counseling. A 32-item questionnaire was designed to examine patient satisfaction and was administered to 76 clients in a genetic counseling center, and 56 parents attending a pediatric outpatient clinic (the control group). Factor analysis showed 3 dimensions to satisfaction with genetic counseling: instrumental, affective, and procedural. The general level of satisfaction was found to be lower in the genetic counseling group than in the control group. This finding was interpreted as expressing basic properties of genetic counseling. The most important determinant of satisfaction in both groups was satisfaction with the content of information provided in counseling. Some affective and procedural aspects of genetic counseling were found more satisfying, and more important in determining genetic clients' general sense of satisfaction, as compared to the control subjects.

Consumer Behavior↗
PubMed1990

Characteristics of a strong promoter from figwort mosaic virus: comparison with the analogous 35S promoter from cauliflower mosaic virus and the regulated mannopine synthase promoter.

A segment of DNA from the genome of figwort mosaic virus (FMV) strain M3 possesses promoter activity when tested in electroporated protoplasts from, and transgenic plants of, Nicotiana tabacum cv. Xanthi nc. The 1.1 kb DNA segment, designated the '34S' promoter, is derived from a position on the FMV genome comparable to the position on the cauliflower mosaic virus (CaMV) genome containing the 35S promoter. The 34S and 35S promoters show approximately 63% nucleotide homology in the TATA, CCACT, and -18 to +1 domains, but in sequences further upstream the homology drops below 50%. Promoter activities were estimated using beta-glucuronidase and neomycin phosphotransferase II reporter gene systems. The activity of the 34S promoter segment approximates that of the 35S promoter in both protoplast transient expression assays and in stably transformed tobacco plants. Truncation of 5' sequences from the 34S promoter indicates that promoter strength depends upon DNA sequences located several hundred nucleotides upstream from the TATA box. In leaf tissue the 34S promoter is 20-fold more active than the mannopine synthase (MAS) promoter from Agrobacterium tumefaciens T-DNA. The 34S promoter lacks the root-specific and wound-stimulated expression of the MAS promoter, showing relatively uniform root, stem, leaf, and floral activities.

Base Sequence↗
PubMed1990

Congenital myasthenia associated with facial malformations in Iraqi and Iranian Jews. A new genetic syndrome.

Fourteen Jewish patients from 10 families of either Iraqi or Iranian origin with congenital myasthenia had associated facial malformations which included an elongated face, mandibular prognathism with class III malocclusion and a high-arched palate. Other common features were muscle weakness restricted predominantly to ptosis, weakness of facial and masticatory muscles, and fatigable speech; mild and nonprogressive course; response to cholinesterase inhibitors; absence of antibodies to acetylcholine receptor; decremental response on repetitive stimulation at 3 Hz but no repetitive compound muscle action potential in response to a single nerve stimulus. This newly recognized form of congenital myasthenia with distinctive ethnic clustering and associated facial malformations is transmitted as an autosomal recessive disorder. The facial abnormalities may be secondary to the neuromuscular defect or may be primary and unrelated. Further studies are needed to elucidate the defect in neuromuscular transmission responsible for the pathogenesis of this syndrome.

Adolescent↗
PubMed1990

Skin mastocytosis with short stature, conductive hearing loss and microtia: a new syndrome.

A 5 1/2-year-old Sephardic Jewish girl, born of consanguineous parents, is described. She has short stature, microcephaly, conductive hearing loss, skin mastocytosis and microtia. Since this constellation of findings has not been reported previously, we think that these findings represent a new congenital malformation, most probably of genetic etiology.

Body Height↗
PubMed1990

Megalocornea, macrocephaly, mental and motor retardation (MMMM).

Two patients with macrocephaly, mild mental retardation and megalocornea are reported. Hypotonia, poor coordination and swallowing difficulties were present. One patient was obese and the other had scoliosis. Both had large fleshy ears and long fingers. The spectrum of the mental retardation megalocornea syndrome is not fully defined. These two patients resemble a previously reported case, and although there are distinct differences from patients with familial or sporadic Neuhauser syndrome, these cases may represent clinical variability of that syndrome.

Adolescent↗
PubMed1990

The wrinkly skin syndrome: a report of a case and review of the literature.

A 2 1/2-year-old boy born of Jewish Moroccan parents is reported with physical findings of wrinkled skin on the dorsum of the hands and feet, with poor skin elasticity, syndactyly, mild kyphosis and poor muscle tone, the diagnosis being the wrinkly skin syndrome. All reported cases of this heritable disorder of connective tissue are reviewed and discussed in terms of genetics, ethnic clustering and differential diagnosis.

Child, Preschool↗
PubMed1989

Auditory and vestibular findings in Waardenburg's type II syndrome.

A group of 33 patients with the autosomal dominant form of Waardenburg Type II syndrome underwent hearing and vestibular examination. A bilateral, symmetrical, sensorineural hearing loss was found in 51 per cent of the tested subjects. The severity of hearing loss varied from mild to severe. Strong evidence indicated the possible progressive nature of the hearing loss. Concerning the frequency of vestibular findings, the study highlights the frequent divergence between cochlear and vestibular involvement.

Abnormalities, Multiple↗
PubMed1989

Brachydactyly type A-7 (Smorgasbord): a new entity.

We report a family with a form of brachydactyly that involves characteristic features of types A2 and D brachydactyly plus features found in other types of brachydactyly and also features not previously noted. This set of findings represents a new syndrome, which we have termed brachydactyly type A7 (Smorgasbord).

Female↗
PubMed1989

Newly recognized ectrodactyly/deafness syndrome.

A 7-year-old non-Ashkenazi Jewish girl is described having asymmetrical ectrodactyly (split hand and foot deformity), short stature, mental retardation, sensorineural deafness, and abnormal facies. Because this constellation of findings has not been reported previously, the authors believe that this represents a new congenital malformation syndrome, most probably of genetic etiology.

Abnormalities, Multiple↗
PubMed1988

Cerebral germinomas and Klinefelter syndrome. A review.

Patients with Klinefelter syndrome appear to be predisposed to the development of extragonadal cerebral germinomas. A case of a pineal region germinoma in a boy 15 years of age with Klinefelter syndrome is documented in this article. In view of three other cases of cerebral germinomas associated with Klinefelter syndrome in the literature, a hypothesis for this predisposition is suggested.

Adolescent↗
PubMed1988

Prenatal diagnosis of the pterygium syndrome.

We report two second trimester pregnancy terminations in the same woman following intrauterine ultrasonic findings of hydrops fetalis, polyhydramnios, lack of fetal movements, and short, fixed malformed limbs. One fetus also showed a cystic mass at the back of the head. Radiographic and anatomic studies of the fetuses demonstrated multiple pterygia, flexion contracture of multiple joints, abnormal facial appearance, cleft palate, pulmonary hypoplasia, and gracile bones. The cystic mass of the back of the head was found to be a cystic hygroma. These findings are consistent with the lethal variant of multiple pterygium syndrome. Early prenatal diagnosis of this condition is possible using ultrasonography.

Adult↗
PubMed1988

Partial duplication of the eyebrows with other congenital malformations: a new syndrome.

Congenital malformations involving the eyebrows are a rare phenomenon. Recently we have seen a case with partial duplication of the eyebrows and multiple other malformations. Because of the presence of close parental consanguinity, we believe this constellation of findings represents a new syndrome, possibly transmitted as an autosomal recessive disorder.

Abnormalities, Multiple↗
PubMed1988

Partial duplication of the lower limb with agenesis of ipsilateral kidney--a new syndrome: report of a case and review of the literature.

A detailed account is given of a 19-month-old female infant with partial duplication of the left lower limb and aplasia of the ipsilateral kidney, plus other congenital malformations. Although the etiology is unknown, we believe this constellation of findings, which has been reported previously, represents a new congenital malformation syndrome.

Abnormalities, Multiple↗