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Biomedical subjects

E Cohn

Publications and source records attributed to E Cohn.

12 recordsLinked to original sources
PubMed2000

Connexin 26: required for normal auditory function.

A single base deletion mutation, 35delG, in the gene (GJB2/DFNB1)(OMIM 121011/220290) encoding the gap junction protein, connexin 26 is the most important single cause of genetic hearing loss in European and American populations. It is the cause of one of the most common human genetic disorders with a frequency similar to cystic fibrosis. Mutations in this connexin are associated with skin disorders.

Connexin 26↗
PubMed1999

Fluctuating sensorineural hearing loss associated with enlarged vestibular aqueduct maps to 7q31, the region containing the Pendred gene.

The most common form of inner ear abnormality, enlarged vestibular aqueduct (EVA), is of particular interest because it is associated with characteristic clinical findings, including fluctuating and sometimes progressive sensorineural hearing loss and disequilibrium symptoms. Although EVA has been reported to be inherited in a recessive manner, nothing else is known about the genetic basis of this hearing loss. Here we report on the localization of the gene responsible for sensorineural hearing loss associated with EVA to chromosomal region 7q31, with maximum multipoint LOD score of 3.647. The EVA candidate gene region lies in a 1.7-cM interval between the flanking markers D7S501 and D7S2425. Interestingly, this region overlaps the region containing the gene responsible for Pendred syndrome, called PDS, which was identified recently. However, the present subjects did not fulfill the criteria for Pendred syndrome. It is hypothesized that different mutations within the PDS gene may cause different phenotypes ranging from EVA to the Mondini deformity seen in Pendred syndrome.

Chromosome Mapping↗
PubMed1999

Tilling the soil: nurturing the seeds of patient and family education.

Effective patient and family education has become most essential in today's changing health care environment. The importance of patient education is reflected in the organizational performance standards of the Joint Commission on Accreditation of Healthcare Organizations. To keep abreast of these rapid changes, we decided to evaluate and enhance our existing cardiac education program. This article presents our analysis that effective patient and family education must be a coordinated effort across the cardiac continuum. New teaching tools were established to assist in increasing the patients' knowledge base, and consequently empower patients to make better decisions regarding their care.

Adult↗
PubMed1991

[Observations of a case of sirenomelia in a 37-year-old adult].

The authors study a case of sirenomelia at a 37 years old adult woman, nosographic table presented for the first time by Charles Duhamel in 1959, having the denomination of "caudal regression syndrome", similar to Goldenhar syndrome cephalic expression of this regression. The malformation is known and well presented by Greek mythology in Homer (Odissey), Ovide (The Metamorphosis) etc. One presents little enough information, its classification and a few etiopathology data.

Adult↗
PubMedDate not supplied

Parental hopes for therapy outcomes: children with sensory modulation disorders.

OBJECTIVE: Understanding parents' hopes for therapy outcomes is essential to family-centered care. This qualitative study explored parents' points of view regarding their hopes for the outcomes of occupational therapy using a sensory integration treatment approach. METHOD: Data were collected as part of a larger research project on the effectiveness of rehabilitating children who have sensory modulation disorders. Five interviews were randomly selected from 17 parent interviews conducted in the larger study. Data were analyzed using grounded theory methods. FINDINGS: Three themes pertinent to the occupations of children and two themes related to the occupations of parenting and sustaining family life emerged. Child-focused outcomes include social participation, self-regulation, and perceived competence. Parent-focused outcomes include learning strategies to support children and obtaining personal validation. DISCUSSION: Interventions are proposed that relate to children's participation in contexts in which they live, learn, and play, as well as the support of parents in the occupations of parenting.

Adult↗
PubMedDate not supplied

[Effectiveness of repeated antibiotic or chemotherapeutic treatments on Shigella carrier states].

A group of 39 former dysentery patients, who continued to excrete Shigella bacteria after a first cure of antibiotics when full clinical recovery was obtained, were treated differentially under bacteriological control. The carrier state was still extent in 7% of the cases after three antibiotic or chemotherapeutical cures. No direct relation was found between the sensitivity of Shigella to chemotherapeutics and the level of the carrier state. Although treated already in the acute stage with adequate antibiotics, resistance to a second therapeutical attempt was recorded in a proportion of 33%. It is considered useless to repeat the antibiotic or chemotherapeutical cures in the treatment of convalescent carriers because of the low efficiency and the biological and economical disadvantages.

Adolescent↗
PubMedDate not supplied

[A case of sirenomelia].

The case of a 37-year-old woman, dressmaker, with congenital lower limb amelia is presented. The specific and complementary investigations revealed the absence of the left half of sacrum, coccyx, together with the left iliac bone, ischium and pubis. Urography demonstrated the absence of left kidney. Ultrasonography revealed the presence of the spleen. The data in the literature are reviewed and some comments are made.

Adult↗