Severe deafness or hearing impairment is the most prevalent inherited sensory disorder, affecting about 1 in 1,000 children. Most deafness results from peripheral auditory defects that occur as a consequence of either conductive (outer or middle ear) or sensorineuronal (cochlea) abnormalities. Although a number of mutant genes have been identified that are responsible for syndromic (multiple phenotypic disease) deafness such as Waardenburg syndrome and Usher 1B syndrome, little is known about the genetic basis of non-syndromic (single phenotypic disease) deafness. Here we study a pedigree containing cases of autosomal dominant deafness and have identified a mutation in the gene encoding the gap-junction protein connexin 26 (Cx26) that segregates with the profound deafness in the family. Cx26 mutations resulting in premature stop codons were also found in three autosomal recessive non-syndromic sensorineuronal deafness pedigrees, genetically linked to chromosome 13q11-12 (DFNB1), where the Cx26 gene is localized. Immunohistochemical staining of human cochlear cells for Cx26 demonstrated high levels of expression. To our knowledge, this is the first non-syndromic sensorineural autosomal deafness susceptibility gene to be identified, which implicates Cx26 as an important component of the human cochlea.
In a study of 10 North Carolina hospitals, we found that harms remain common, with little evidence of widespread improvement. Further efforts are needed to translate effective safety interventions into routine practice and to monitor health care safety over time. (Funded by the Rx Foundation.).
A wide variety of TTs were in use, with little evidence of reliability, validity and utility. Sensitivity was poor, which might be due in part to the nature of the physiology monitored or to the choice of trigger threshold. Available data were insufficient to identify the best TT.
No abstract
Abstract-Objective:This assessment evaluates the clinical utility, efficacy, and safety of quantitative sensory testing (QST). Methods: By searching MEDLINE, Current Contents, and their personal files, the authors identified 350 articles. Selected articles utilized computer operated threshold systems, manually operated threshold systems, and electrical threshold devices. The authors evaluated the use of normal values and the degree of reproducibility between the same and different systems. Articles were rated using a standard classification of evidence scheme. Results: Because of differences between systems, normal values from one system cannot be transposed to others. Reproducibility of results was also an important concern, and there is no consensus on how it should be defined. The authors identified no adequately powered class I studies demonstrating the effectiveness of QST in evaluating any particular disorder. A number of class II and III studies demonstrated that QST is probably or possibly useful in identifying small or large fiber sensory abnormalities in patients with diabetic neuropathy, small fiber neuropathies, uremic neuropathies, and demyelinating neuropathy. Conclusions: QST is a potentially useful tool for measuring sensory impairment for clinical and research studies. However, QST results should not be the sole criteria used to diagnose pathology. Because malingering and other nonorganic factors can influence the test results, QST is not currently useful for the purpose of resolving medicolegal matters. Well-designed studies comparing different QST devices and methodologies are needed and should include patients with abnormalities detected solely by QST. NEUROLOGY 2003;60:898 -904 Quantitative sensory testing (QST) systems have been developed to assess and quantify sensory function in patients with neurologic symptoms or in those at risk of developing neurologic disease. QST measures the detection threshold of accurately calibrated sensory stimuli. Vibratory, thermal, or painful stimuli are often chosen because they relate to distinct neuroanatomic pathways with discrete fiber populations.1-3 It should be appreciated, however, that natural stimuli rarely activate single types of receptors but rather activate different combinations of receptors. 1Quantitative sensory tests are psychophysical in nature, requiring cooperation from the patient. While the sensory stimulus is an objective physical event, the response represents the subjective report from a patient or control subject. If abnormal, the result may signal dysfunction anywhere along the sensory pathway between the receptor apparatus, the primary sensory cortex, and the association cortex. Furthermore, psychological factors figure prominently in sensory function perception. Thus, QST differs from nerve conduction and evoked potential testing in which the stimulus generates an evoked response that is generally independent of cooperation from the subject. 4QST devices. QST systems are separable into devices that generate specific physical...
Objective To evaluate benefits for postnatal women of two psychologically informed interventions by health visitors. Design Prospective cluster trial randomised by general practice, with 18 month follow-up. Setting 101 general practices in Trent, England. Participants 2749 women allocated to intervention, 1335 to control. Intervention Health visitors (n=89 63 clusters) were trained to identify depressive symptoms at six to eight weeks postnatally using the Edinburgh postnatal depression scale (EPDS) and clinical assessment and also trained in providing psychologically informed sessions based on cognitive behavioural or person centred principles for an hour a week for eight weeks. Health visitors in the control group (n=49 38 clusters) provided usual care. Main outcome measures Score ≥12 on the Edinburgh postnatal depression scale at six months. Secondary outcomes were mean Edinburgh postnatal depression scale, clinical outcomes in routine evaluation-outcome measure (CORE-OM), state-trait anxiety inventory (STAI), SF-12, and parenting stress index short form (PSI-SF) scores at six, 12, 18 months. Results 4084 eligible women consented and 595 women had a six week EPDS score ≥12. Of these, 418 had EPDS scores available at six weeks and six months. At six months, 34% women (93/271) in the intervention group and 46% (67/147) in the control group had an EPDS score ≥12. The odds ratio for score ≥12 at six months was 0.62 (95% confidence interval 0.40 to 0.97, P=0.036) for women in the intervention group compared with women in the control group. After adjustment for covariates, the odds ratio was 0.60 (0.38 to 0.95, P=0.028). At six months, 12.4% (234/1880) of all women in the intervention group and 16.7% (166/995) of all women in the control group had scores ≥12 (0.67, 0.51 to 0.87, P=0.003). Benefit for women in the intervention group with a six week EPDS score ≥12 and for all women was maintained at 12 months postnatally. There was no differential benefit for either psychological approach over the other. Conclusion Training health visitors to assess women, identify symptoms of postnatal depression, and deliver psychologically informed sessions was clinically effective at six and 12 months postnatally compared with usual care. Trial registration ISRCTN92195776. INTRODUCTIONPostnatal depression is a global problem and an important public health issue. About 13% of women experience depression during the first postnatal year, 1 yet there are problems in recognition because its clinical assessment is complex. There can be serious consequences for the mother, her child, 2 and family and a risk of suicide (the leading cause of maternal death in England and Wales) and infanticide in some severely depressed mothers.3 Fathers are also more likely to be depressed if their partner is depressed, 4 and the children of fathers who experience depression in the postnatal period are at increased risk of behaviour problems. 5In primary care, psychological interventions are as clinically effective in the management of depression...
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
334 Leonard St
Brooklyn, NY 11211
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.