Usher syndrome: clinical findings and gene localization studies

The issue of genetic heterogeneity is a critical problem in the localization of the gene(s) for Usher syndrome. Based on the data obtained on families studied to date, the differences between type I and type II Usher syndrome appear quite distinct with regard to auditory and vestibular function. Although the majority of families can be confidently diagnosed as typical type I or type II, clinical investigations revealed four families with findings that did not fit into either of the two more common subtypes. These findings emphasize the critical importance of an in-depth clinical analysis concomitant with the linkage investigation to assure accurate subtyping of Usher syndrome. Based on an analysis of only those families with definite type I or type II Usher syndrome, approximately 17% of the genome can be excluded as a potential site of the gene for type I, and 14% can be excluded as the site for the type II gene. This study will continue until the Usher gene(s) is successfully localized.     

Targeted routine asthma care in general practice using telephone triage

BACKGROUND: There is a high non-attendance rate for traditional clinic-based routine asthma care in general practice. Alternative methods of providing routine asthma care need to be examined. AIM: To examine the cost and effectiveness of targeted routine asthma care in general practice using telephone triage, compared to usual clinic care. DESIGN OF STUDY: An open randomised controlled trial. SETTING: A single semi-rural practice in the southwest of England. METHOD: Adult patients with asthma were randomised to receive either their routine asthma care in the surgery or care by telephone triage. Asthma control parameters, health status and NHS resource utilisation were measured over the 12-month study period. RESULTS: One hundred and ninety-four patients were randomised and 35% per cent more patients (n = 84 versus n = 62) received more than one consultation in the telephone group. Asthma control as measured by the asthma control questionnaire (ACQ) was similar in the clinic and telephone groups: mean change in ACQ = -0.11 (95% CI = -0.32 to 0.11) versus -0.18 (95% CI = -0.38 to 0.02). Mean NHS costs were 210 pounds sterling per patient per year in the telephone group compared to 334 pounds sterling in the clinic group (P-value of bootstrapped difference = 0.071). CONCLUSION: Targeted routine asthma care by telephone triage of adult asthmatics can lead to more asthma patients being reviewed, at less cost per patient and without loss of asthma control compared to usual routine care in the surgery.     

Just-in-Time Evidence-Based E-mail “Reminders” in Home Health Care: Impact on Patient Outcomes

OBJECTIVE: To assess the impact and cost-effectiveness of two information-based provider reminder interventions designed to improve self-care management and outcomes of heart failure (HF) patients. DATA SOURCES/STUDY SETTING: Interview and agency administrative data on 628 home care patients with a primary diagnosis of HF. STUDY DESIGN: Patients were treated by nurses randomly assigned to usual care or one of two intervention groups. The basic intervention was an e-mail to the patient's nurse highlighting six HF-specific clinical recommendations. The augmented intervention supplemented the initial nurse reminder with additional clinician and patient resources. DATA COLLECTION: Patient interviews were conducted 45 days post admission to measure self-management behaviors, HF-specific outcomes (Kansas City Cardiomyopathy Questionnaire-KCCQ), health-related quality of life (EuroQoL), and service use. PRINCIPAL FINDINGS: Both interventions improved the mean KCCQ summary score (15.3 and 12.9 percent, respectively) relative to usual care (p< or =.05). The basic intervention also yielded a higher EuroQoL score relative to usual care (p< or =.05). In addition, the interventions had a positive impact on medication knowledge, diet, and weight monitoring. The basic intervention was more cost-effective than the augmented intervention in improving clinical outcomes. CONCLUSIONS: This study demonstrates the positive impact of targeting evidence-based computer reminders to home health nurses to improve patient self-care behaviors, knowledge, and clinical outcomes. It also advances the field's limited understanding of the cost-effectiveness of selected strategies for translating research into practice.     

Isolation of Malassezia spp. from cerumen of wild felids.

The objective of this study was to determine the presence of different species of the genus Malassezia in the healthy external auditory canal of wild felids maintained in captivity. One hundred and thirty-two adult animals (264 samples of cerumen), 77 males (58.3%) and 55 females (41.7%), were studied: large felids (55 animals) - 26 lions (Panthera leo), 13 tigers (Panthera tigris), 6 leopards (Panthera pardus), 6 jaguars (Panthera onca), 2 cheetahs (Acinonyx jubatus), 2 pumas (Puma concolor); small felids (77 animals) - 29 tiger cats (Leopardus tigrinus), 19 jaguarundis (Herpailurus yagouaroundi), 10 margays (Leopardus wiedii), 9 pampas cats (Oncifelis colocolo), 6 geoffroy's cats (Oncifelis geoffroyi), and 4 servals (Leptailurus serval). Samples were obtained by the introduction of a sterile swab into the ear canal after cleaning the auricle with an alcohol-ether solution. The swabs were seeded onto Petri dishes containing modified Mycosel agar and sterile olive oil was added to the surface of the medium before specimen seeding. The plates were incubated at 35oC for two weeks. The isolates were analyzed regarding macro-and micromorphology and identified through catalase tests and growth on Tween 20, 40, 60 and 80. Malassezia spp. were isolated from 58 of the felids studied (43.9%) and from 102 samples of cerumen (38.6%). Malassezia sympodialis was isolated exclusively in large felids (33 animals-56.9%), and Malassezia pachydermatis exclusively in smaller varieties (25 animals - 43.1%). The incidence of fungi was higher in lions, with yeast being isolated in 25 of 26 animals (96.2%). Forty-eight strains (47.1%) were isolated from the right ear canal and 54 (52.9%) from the left. Although M. pachydermatis is the species considered a member of the microbiota of the mammalian external ear canal these results suggest that M. sympodialis participates in the microbiota of large felids.     

Opioid receptor binding in parahippocampus of patients with temporal lobe epilepsy: its association with the antiepileptic effects of subacute electrical stimulation.

Opioid receptor binding was evaluated in parahippocampal cortex (PHC) obtained from patients with intractable mesial temporal lobe epilepsy (MTLE) with and without subacute high frequency electrical stimulation (HFS) in this brain area. Mu, delta and nociceptin receptor binding was determined by autoradiography in PHC of five patients (ESAE group) with MTLE history of 14.8 +/- 2.5 years and seizure frequency of 11 +/- 2.9 per month, two of them (40%) with mesial sclerosis. This group demonstrated antiepileptic effects following subacute HFS (130 Hz, 450 micros, 200-400 microA), applied continuously during 16-20 days in PHC. Values were compared with those obtained from patients with severe MTLE (history of 21.7 +/- 2.8 years and seizure frequency of 28.2 +/- 14 per month) in whom electrical stimulation did not induce antiepileptic effects (ESWAE group, n = 4), patients with MTLE in whom no electrical stimulation was applied (MTLE group, n = 4) and autopsy material acquired from subjects without epilepsy (n = 4 obtained from three subjects). Enhanced 3H-DAMGO (MTLE, 755%; ESAE, 375%; ESWAE, 693%), 3H-DPDPE (MTLE, 242%; ESAE, 80%; ESWAE, 346%) and 3H-nociceptin (MTLE, 424%; ESAE, 217%; ESWAE, 451%) binding was detected in the PHC of all epileptic groups. However, tissue obtained from ESAE group demonstrated lower opioid receptor binding (3H-DAMGO, 44.5%, p < 0.05; 3H-DPDPE, 47%, p < 0.05; 3H-nociceptin, 39.3%, p < 0.5) when compared with MTLE group. The present results indicate that a high effectiveness to the antiepileptic effects induced by HFS is associated with reduced opioid peptide binding.     

Muscular activation patterns of healthy persons and low back pain patients performing a functional capacity evaluation test

The results of most reported studies show differences between the muscular activity of low back pain patients and healthy subjects, but the focus has usually been on trunk muscles only, and they have not involved work-related tests or exercises. The reintegration of chronic low back pain patients to job market is a common problem. Therefore assessment systems like the functional capacity evaluation (FCE) according to Isernhagen [S.J. Isernhagen, Work Injury: Management and Prevention, Aspen Publishers Inc., Gaithersburg, MD, 1988] are often used tools to determine the physical abilities and deficits of long-time incapacitated persons. The aim of the present study was to compare the healthy persons and chronic low back pain patients in performing a FCE-test and to analyse their muscular activation and motion patterns. The results indicate differences in the activation patterns of the groups in the test task “floor to waist lift” common in many occupations.     

Idiopathic transient osteoporosis of the knee: five cases and revision of literature

Five patients with idiopathic transient osteoporosis were examined. Bone scanning and MRI was helpful in the diagnosis to differentiate of necrosis and all patients recovered completely with conservative and symptomatic treatment. There was no history of trauma in all patients. MRI was realized previously in all cases to confirm the diagnosis and after the resolution of symptomathology.     

Maternal mortality in Pernambuco, Brazil: what has changed in ten years?

This study examines changes in levels and patterns of maternal mortality in Pernambuco, Brazil, in 1994 and 2003. The research was carried out in five sub-regions of Pernambuco using the Reproductive Age Mortality Survey (RAMOS) method and based on death certificates of women of reproductive age registered in the local System of Information on Mortality. In-depth interviews with family members were also conducted for the abortion-related deaths. Of the 1,258 female deaths investigated, 54 maternal deaths were identified, corresponding to a maternal mortality ratio of 77 per 100,000 live births. The estimated level of under-reporting (46%) corresponds to an upward adjustment factor of 1.9. The illegal status of abortion in Brazil remains an important contributory factor for the abortion-related deaths. Approximately 94% of the maternal deaths were judged to be avoidable with improvements in health care. Maternal mortality declined by 30% over the ten-year period but the level of misclassification of maternal deaths remains. Improvements in maternity care for women and reporting of maternal deaths are still urgently needed.     

Biochemical analysis of human milk treated with sodium dodecyl sulfate, an alkyl sulfate microbicide that inactivates human immunodeficiency virus type 1.

Reduction of transmission of human immunodeficiency virus type 1 (HIV-1) through human milk is needed. Alkyl sulfates such as sodium dodecyl sulfate (SDS) are microbicidal against HIV-1 at low concentrations, have little to no toxicity, and are inexpensive. The authors have reported that treatment of HIV-1-infected human milk with < or = 1% (10 mg/mL) SDS for 10 minutes inactivates cell-free and cell-associated virus. The SDS can be removed with a commercially available resin after treatment without recovery of viral infectivity. In this article, the authors report results of selective biochemical analyses (ie, protein, immunoglobulins, lipids, cells, and electrolytes) of human milk subjected to SDS treatment and removal. The SDS treatment or removal had no significant effects on the milk components studied. Therefore, the use of alkyl sulfate microbicides to treat milk from HIV-1-positive women may be a simple, practical, and nutritionally sound way to prevent or reduce transmission of HIV-1 while still feeding with mother's own milk.