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Biomedical subjects

J Israel

Publications and source records attributed to J Israel.

At least 19 recordsLinked to original sources
PubMed1992

Innovative approach to genetic counseling services for the deaf population.

Genetic service providers have stressed the importance of genetic counseling that is nondirective and specific to the personal needs of consultants. Successful genetic counseling for deaf persons often requires special provisions for complex family histories, syndromic conditions, and diversity in communication methods and cultural orientation. The Gallaudet University Genetic Services Center (GSC) was established in 1984 to provide genetic education and counseling services to the deaf community. The GSC staff developed and implemented a standardized system of data collection (family and medical history), clinical evaluation by consultant clinical geneticists, and counseling in sign language. In addition to clinical services, an in-depth educational program for professionals and consumers was developed and carried out. During a 6-year period, over 220 educational presentations were made and 659 deaf persons were seen for genetic evaluation and counseling. Most of these persons were self-referred. Sign language was the preferred means of communication of more than 90% of these individuals. A genetic cause of deafness was diagnosed in over 50% of the deaf consultants and was confirmed by segregation analysis, which had results similar to those reported for other studies of students in schools for the deaf. Special materials and strategies were developed in order to provide genetic services that were sensitive to the cultural and linguistic differences of the deaf population. These included written and visual materials that contained culturally neutral terminology and training of all staff members in sign language and the culture of the deaf.

Adolescent↗
PubMed1992

Oculoauriculovertebral anomaly: segregation analysis.

Seventy-four families of probands with oculoauriculovertebral anomaly were evaluated, including 116 parents and 195 offspring. Relatives were examined to identify ear malformations, mandibular anomalies, and other craniofacial abnormalities. For segregation analysis using POINTER, selection of the sample was consistent with single ascertainment. Different population liabilities were used for probands and relatives, because affection was narrowly defined for probands and broadly defined for relatives. The hypothesis of no genetic transmission was rejected. The evidence favored autosomal dominant inheritance; recessive and polygenic models were not distinguishable.

Adult↗
PubMed1992

Genetic counseling for the deaf.

Genetic counseling is a process that emphasizes accurate diagnosis of hereditary conditions and communication of information to families. Genetic counseling involves systematic collection of family and medical history, a physical examination by a certified clinical geneticist, sharing of information with the family, and follow-up and support services. The issues that arise in genetic counseling can differ for every family and are often dependent on the degree of deafness present in the family, age of onset, and linguistic and cultural orientation. It is important for the genetic counselor to consider these factors in the provision of genetic services. With the increasing application of molecular genetics to the diagnosis and management of hereditary deafness and the increasing participation of families with deafness in research studies, the involvement of genetic counselors to provide information and education to consumers as well as medical professionals and researchers is becoming even more critical. The success of genetic counseling for the provision of information to families and the delineation of types of hereditary deafness through clinical and laboratory research is dependent on appropriate referrals by medical professionals, including otolaryngologists. A working relationship between otolaryngologists and clinical geneticists for the referral and evaluation of patients with hereditary deafness or deafness of "unknown" etiology is important.

Adult↗
PubMed1992

Elevated CA19-9 in a case of Mirizzi's syndrome.

At levels greater than 1000 U/ml, the tumor-associated antigen CA19-9 has a specificity approaching 100% for malignant disease. A 67-yr-old woman with known cholelithiasis presented with painless jaundice and a CA19-9 of 1320 U/ml. The diagnosis of Mirizzi's syndrome was made at laparotomy, and the postoperative level fell rapidly to normal. Mirizzi's syndrome should be included among the few benign disorders which can yield such elevations in the CA19-9.

Aged↗
PubMed1991

Replication-defective missense mutations within the terminal protein and spacer/intron regions of the polymerase gene of human hepatitis B virus.

We have analyzed 11 independent mutations located at various domains of the polymerase gene (pol) of human hepatitis B virus. Surprisingly, one of the two missense mutants within the spacer/intron region appears to be lethal. This result further defines the N-terminal limit of the reverse transcriptase domain. Alternatively, it suggests the potential existence of a novel domain with an unknown function. Two missense mutations within the terminal protein (TP) domain appear to be replication-defective as well, suggesting a functionally essential role of the TP domain in DNA replication.

Blotting, Northern↗
PubMed1991

Genetic counseling of the deaf. Medical and cultural considerations.

Genetic counseling is a communication process where information is provided in a nondirective way. Genetic counseling emphasizes informed decision making and provision of medical, psychological, and social support; genetic counseling is not advice giving. Individuals who are members of the deaf community (culturally deaf) present unique challenges to the ability of genetic counselors to be nondirective. In contrast to the medical model which considers deafness to be a pathological condition, many deaf people do not consider themselves to be handicapped but define themselves as being part of a distinct cultural group with its own language, customs, and beliefs. Cultural and linguistic factors have a strong influence on the success of genetic counseling with deaf people. Strategies for effective genetic counseling to deaf people include the recognition that perception of "risk" is very subjective and that some deaf individuals may prefer to have deaf children. Other considerations for successful service provision include the use of appropriate questionnaires or history-taking tools, the use of qualified interpreters, and the revision of counseling materials and terminology to eliminate cultural bias. Nondirective counseling is also very dependent on the educational background and level of understanding of the consultants. There is a desperate need for education within the deaf community about genetics, particularly the less well educated, and a need for training of genetic counselors who have an appreciation of the linguistic and cultural differences of the deaf. Additionally, as with any other cultural, racial, or ethnic group, it would be very appropriate for deaf persons to be trained as genetic counselors to provide genetic counseling to deaf people. Unfortunately, there are at present no culturally deaf genetic counselors in the United States. Genetic counseling for deaf couples can also be complicated by complex family trees with mating between several deaf people and by the potential presence of other complicating features that may be associated with syndromic types of deafness. This requires careful history taking by trained geneticists and often long, complex explanations to families when the mode of inheritance cannot be confirmed. Even though deaf people most often do not pursue genetic counseling because of concerns for reproductive outcome, there is great enthusiasm among members of the deaf community about genetic services when they are provided in a manner that is sensitive to their linguistic and cultural differences. Genetic counseling for culturally deaf people can have great personal benefits for these individuals, can increase general knowledge regarding hereditary types of deafness and can help in developing strategies for providing appropriate genetic counseling for individuals with all degrees of hearing loss.

Adult↗
PubMed1991

Epidemic dropsy in Andhra Pradesh due to contaminated ghee.

An outbreak of epidemic dropsy in Andhra Pradesh was studied during August to September 1987. Thirty cases from 6 families were identified and examined. Ghee and one oil sample were found to be contaminated with the toxic compound sanguinarine. The affected families had purchased ghee from one vendor. The epidemic ended after alerting the villagers of the contaminated ghee, and stopping its further use.

Alkaloids↗
PubMed1991

Disappearance of a sessile tubulovillous adenoma in the rectosigmoid colon during radiation therapy for cervical carcinoma.

Colonoscopic polypectomy is the usual treatment for an adenomatous colorectal polyp. We report a case of a sessile tubulovillous adenoma in the rectosigmoid colon disappearing during a course of radiation therapy for an unrelated cervical cancer. This case report illustrates that at least some colonic polyps are radiosensitive and can be eradicated during radiation therapy.

Adenoma↗
PubMed1988

Interstitial and terminal deletions of the long arm of chromosome 4: further delineation of phenotypes.

We reviewed 45 patients with a deletion of the long arm of chromosome 4. Forty-one were previous reports (25 terminal deletions and 16 interstitial deletions) and 4 are new cases with terminal deletions. Of the 29 patients with terminal deletions, 18 with deletion at 4q31 and 4 at 4q32----qter had an identifiable phenotype consisting of abnormal skull shape, hypertelorism, cleft palate, apparently low-set abnormal pinnae, short nose with abnormal bridge, virtually pathognomonic pointed fifth finger and nail, congenital heart and genitourinary defects, moderate-severe mental retardation, poor postnatal growth, and hypotonia. Six patients with a deletion at 4q33 and one patient with deletion 4q34 were less severely affected. In general, patients with various interstitial deletions proximal to 4q31 had a phenotype that was less specific, although mental retardation and minor craniofacial anomalies were also present. There were 3 patients with piebaldism and one with Rieger syndrome. We conclude that terminal deletion of chromosome 4q (4q31----qter) appears to produce a distinctive malformation (MCA/MR) syndrome in which the phenotype correlates with the amount of chromosome material missing and which differs from the more variable phenotype associated with interstitial deletions of 4q.

Abnormalities, Multiple↗
PubMed1979

Swedish socialism and big business.

It is argued that during 44 years of Social Democratic government in Sweden intimate cooperation has developed between this government and multinational corporations. This cooperation was based upon the development of common interests, and was the result of an economic policy of structural rationalization and state intervention. A strong tendency of concentration of capital can be observed. Data are presented to support the theses developed.

Commerce↗