Identification of a new locus for autosomal dominant non-syndromic hearing impairment (DFNA7) in a large Norwegian family

Hereditary hearing impairment affects about 1 in 1000 newborns. In most cases hearing loss is non-syndromic with no other clinical features, while in other families deafness is associated with specific clinical abnormalities. Analysis of large families with non-syndromic and syndromic deafness have been used to identify genes or gene locations that cause hearing impairment. The present report describes a large Norwegian family with autosomal dominant non-syndromic, progressive high tone hearing loss with linkage to 1q21-q23. A maximum LOD score of 7.65 (theta = 0.00) was obtained with the microsatellite marker D1S196. Analysis of recombinant individuals maps the deafness gene (DFNA7) to a 22 cM region between D1S104 and D1S466. The region contains several attractive candidate genes. This report supports the idea of extensive genetic heterogeneity in hereditary hearing impairment and represents the first localization of a deafness gene in a Norwegian family.      

Postmenopausal oral estrogen therapy and blood pressure in normotensive and hypertensive subjects: the Estrogen in the Prevention of Atherosclerosis Trial

OBJECTIVE: To determine if 17beta-estradiol increases blood pressure in postmenopausal women. DESIGN: A total of 222 healthy postmenopausal women were randomly assigned to either 1 mg micronized 17beta-estradiol daily or placebo for 2 years. Blood pressure measurements were obtained every other month and common carotid artery intima-media thickness measured every 6 months. Statistical analyses comparing longitudinal changes in systolic and diastolic blood pressure between treatment groups used a mixed general linear model including interaction terms to evaluate variations by age or estradiol level. RESULTS: Both placebo and estradiol groups showed small declines in systolic and diastolic blood pressure during the trial among the normotensive subjects and subjects on antihypertensive medications. However, the decline did not differ significantly between the groups. Treatment effects on systolic blood pressure differed significantly by the age of the subject (interaction P value = 0.04) with younger women on estradiol showing on average a rise in systolic blood pressure, and older women a decline. The association between serum estradiol level and systolic blood pressure showed a similar modification with age (P = 0.03). Changes in systolic blood pressure in women on estradiol were positively correlated with intima-media thickness progression (P = 0.03). CONCLUSIONS: Overall, 17beta-estradiol did not influence changes in blood pressure in normotensive or hypertensive women. The effect of 17beta-estradiol treatment on systolic blood pressure may be influenced by a woman's age. Estradiol may increase systolic blood pressure in younger postmenopausal women, while having the opposite effect in older postmenopausal women.     

Viral and rickettsial etiology of an outbreak of acute respiratory tract infection

An outbreak of 111 cases of acute respiratory tract infection was recorded in a community of the town "T" in April-May 1984. The clinical picture was severer than usual; 28% of the cases had to be hospitalized, average absenteeism being as high as 26 days per case. Serological investigations demonstrated the previous circulation of influenza virus B/Singapore/222/79 and the simultaneous circulation during the outbreak of influenza virus A/England/333/80 (H1N1) and of Rickettsia burneti (as also ascertained by isolation in the chick embryo of the former and by visualization by immunofluorescence in exfoliated cells of the latter pathogen). The association of the two etiological agents appears to account for the severe and protracted course of the disease.     

Predominantly cerebral manifestation in Urbach-Wiethe's syndrome (lipoid proteinosis cutis et mucosae): a clinical and pathomorphological study

The neurological and psychiatric manifestations in a case of Urbach-Wiethe's disease are reported. The present case is characterized by the predominance of cerebral symptoms: ataxia, psychomotoric seizures, paranoic hallucinatory psychosis and attacks of rage. At autopsy, deposits of amyloid-like material in the walls of the brain vessels could be observed. This finding, together with the mucocutaneous alterations, confirmed the diagnosis of the rare disease know as "lipoid proteinosis cutis et mucosae".     

The effect of propranolol on exercise induced tachycardia is determined by plasma concentration and the density of adrenergic receptors on leukocytes

Summary The chronotropic response to a single oral dose of propranolol in 23 healthy subjects has been related to the plasma propranolol concentration and the density of -adrenoceptors on peripheral polymorphonuclear leucocytes. The percentage reduction in exercise-induced tachycardia was significantly correlated with the log plasma propranolol concentration within subjects but not between subjects. Taking the concentration of the active metabolite 4-hydroxypropranolol into account did not improve the interindividual correlation. The reduction in exercise-induced tachycardia was significantly correlated with the maximum binding density of (¹²⁵I)-hydroxybenzylpindolol on polymorphonuclear leucocyte membrane fragments measured before medication. A response index (% reduction in exercise-induced tachycardia/plasma propranolol concentration) was correlated with the maximum binding density of (¹²⁵I)-hydroxybenzylpindolol (predrug) at 2 h (r_s=0.72), 4 h (r_s=0.84) and 6 h (r_s=0.73) after dosing. The data suggest that interindividual variation in the response to propranolol after a single oral dose is determined by interindividual differences both in plasma propranolol and adrenoceptor density.     

Deciphering the molecular effects of non-ablative Er:YAG laser treatment in an in vitro model of the non-keratinized mucous membrane

Lasers in Medical Science -     

Administering the U.S. Family Violence Option: The role of stigma in waiver recommendations

The Family Violence Option (FVO) was designed to help survivors of domestic violence (DV) more easily secure income support in the United States (U.S.), without placing them at risk of further abuse. The objective of this study is to determine whether the decision-making of advocates responsible for determining waiver recommendations under the FVO is influenced by the relationship status of DV survivors. Recursive partitioning was used to analyse data from a sample of 237 survivor risk assessments from four New Jersey counties to determine which women receive waiver recommendations and which do not. Advocates completed risk assessments for the women and were instructed to make recommendations on waivers based on their assessment. Workers’ decision-making was examined using classification and regression trees (CART) to determine what case factors made it more or less likely for survivors to be recommended waivers. The CART results were supplemented with logistic regression analyses to ensure validity. For two of three waivers, survivors who reported currently residing with their abuser or who had ended the relationship recently were less likely to receive waiver recommendations than those who had been out of the relationship for a longer period of time (OR = 0.09–0.21), even when accounting for the type and severity of DV and the impacts of the violence on survivors’ mental health. The results indicate that DV advocates’ decision-making is complicated by factors independent of survivors’ case characteristics. This can affect the safety and well-being of women attempting to leave violent relationships by affecting their access to resources.     

A GPS logger and software for analysis of homing in pigeons and small mammals

A detailed analysis of homing in pigeons and small mammals has remained difficult because the paths of the animals could not be reconstructed precisely. Here, we describe a lightweight global position system (GPS) data logger (35 g including battery and casing; 40 x 68 x 18 mm) that records the flight of pigeons and the path of dogs with an accuracy of +/-12 m. With one battery, the logger runs in continuous mode (1 fix/s) for 3.5 h and in power-saving mode (1 fix/5 s) for about 16 h, and stores a maximum of 100,000 data points that are downloaded to a PC. A module of our public domain software WINTRACK permits a detailed numerical and graphical analysis of path geometry, phases of resting and moving, and path similarity. The device can be adapted to different species provided that satellite signals can be received reliably and that the loggers can be recovered. We expect it to be useful for testing hypotheses about pigeon homing, assessing natural spatial behavior and orientation of many species, and anticipate further miniaturization.     

Cardiac myxomas

Cardiac myxoma is the most common primary tumor of the heart. Between 1970 and 1998, 33 myxomas from patients operated at the Cardiosurgical Department were submitted for pathological examination. A review of age, sex and clinical symptoms of the patients as well as of gross and histological features of the tumors is presented. Immunohistochemical examination was performed on 10 selected myxomas-reactivity to vimentin, desmin, S-100 protein, cytokeratin and FVIIIR-Ag. The necessity of histological examination of the embolectomy material is stressed.