Biomedical subjects

E Weld

Publications and source records attributed to E Weld.

3 recordsLinked to original sources

PubMed2003

Mutation analysis of Connexin 31 (GJB3) in sporadic non-syndromic hearing impairment.

Mutations in GJB3, the gene encoding the gap junction protein Connexin 31 (CX31), have been pathogenically linked to erythrokeratodermia and non-syndromic autosomal dominant (DFNA2) or recessive hereditary hearing impairment (HHI). To determine the contribution of CX31 to sporadic deafness, we assessed 63 individuals with non-syndromic hearing impairment for CX31 mutations. Single coding exon of CX31 was amplified from genomic DNA and then sequenced. Single nucleotide sequence alteration was present in 15 out of 63 patients (24%), all of the positives being heterozygous for the four different single base pair changes that were detected: C94T, C201T, C357T and C798T. Of these, only C94T transition, identified in two patients, results in amino acid change, R32W, while the other three changes are single nucleotide polymorphisms (SNPs). The R32W substitution in CX31 has been previously documented and is speculated to manifest variable penetrance, similar to the polymorphic allele encoding CX26M34T. Over one-third of all samples were also screened with denaturing high-performance liquid chromatography (dHPLC). Seven out of 25 individuals screened were determined to be positive for CX31 sequence variation. Sequence analysis of the 25 individuals screened identified nucleotide alterations in all of the 7 'positives' and in none of the 16 'negatives' yielding a specificity and sensitivity of 100%. Thus, dHPLC represents a highly efficient CX31 screening technique. This study suggests that while sequence alterations are common, pathogenic mutations of CX31 are infrequent in sporadic non-syndromic hearing impairment.

Amino Acid Sequence↗

PubMed1997

Assessing axis II disorders by informant interview.

Although much of personality disorder research depends on diagnostic data obtained directly from patients, this approach has rarely been compared to interviews with knowledgeable informants. The purpose of this study was to determine the diagnostic agreement between these two assessment methods, as well as their relative contribution to the formulation of consensus diagnoses. Sixty-two psychiatric patients were assessed directly with the Structured Interview for DSM-III Personality Disorders (SIDP), and were asked to nominate an informant--either a family member or friend--to provide information about the patient in an interview with the same instrument. Informant interviews were conducted blind to patient-based information whenever feasible, and diagnostic consensus was achieved by an independent review of all available data by a senior clinician. Diagnostic agreement between patient-based and informant-based personality disorder interview was poor, confirming the findings of two previous studies. Information obtained from patients tended to be given greater weight in formulating consensus diagnoses than information provided by informants. However, about one quarter of diagnostic disagreements were resolved in favor of informant-based information. In contrast to a previous study, the inclusion of informant information did not appear to reveal greater psychopathology in patients. We conclude that supplementing direct patient interview with data provided by a knowledgeable informant appears to enhance the resolution of some personality disorder diagnoses. The utility of informant interviews may depend on an analysis of the costs and benefits of this additional degree of descriptive refinement.

Adult↗

PubMedDate not supplied

Venous dysfunction of late pregnancy persists after delivery.

Pregnancy is associated with DVT, pelvic thrombophlebitis, and lower extremity varicosities. Pelvic venous compression by the gravid uterus is blamed. A prospective controlled study using plethysmography was performed. Venous capacitance and outflow were measured at term, and at 1 week, 6 weeks and 3 months following delivery. Results show decreased venous capacitance and venous outflow at term pregnancy, no improvement 1 week after delivery, modest improvement at 6 weeks, and dramatic statistically significant improvement in both parameters by 3 months. The persistence of venous dysfunction for several weeks after delivery indicates that changes in venous function at term pregnancy are largely the result of factors other than pelvic venous compression by the gravid uterus.

Female↗