A new PTGDR promoter polymorphism in a population of children with asthma

Recently, functional genetic variants of the PTGDR gene have been associated with asthma. The objective of this work was to study polymorphisms of the promoter region of PTGDR and their haplotype and diplotype combinations in a Spanish population of children with asthma. In this study, 200 Caucasian individuals were included. Asthma was specialist–physician diagnosed according to the ATS criteria. The polymorphisms were analyzed by direct sequencing. In the study, the new polymorphism (-613C > T) in the promoter region of PTGDR was analyzed. The CT genotype was more common in controls (17%) than in patients with asthma (1%) (p-value = 0.0003; OR, 0.057; 95% CI, 0.007–0.441). The CCCT CCCC diplotype (promoter positions -613, -549, -441, and -197) was more frequent in the group of patients with asthma [Fisher's p-value = 0.012; OR, 10.24; 95% CI (1.25–83.68)]; this diplotype is unambiguous. To our knowledge, this is the first study of -613C > T PTGDR polymorphism in patients. This analysis provides more complete information on influence of diplotype combinations of PTGDR polymorphisms in asthma.     

Considering Variables for the Assignment of Patients with Schizophrenia to a Case Management Programme

The elements and intensity of case management (CM) practices should be established according to patients’ needs. Therefore, greater understanding of patients’ needs in such community-based programmes is essential. This paper addresses this issue by characterizing two groups of patients receiving CM or a standard treatment programme (STP) and identifying the characteristics of patients receiving CM services. We recruited 241 patients with schizophrenia from 10 Adult Mental Health Centres in Barcelona (Catalonia, Spain). We analyzed the profile of new patients included in a clinical, non-intensive CM program against that of patients in a STP. CM patients, compared with STP patients, have a lower educational level and quality of life; greater use of health care services, and higher levels of psychiatric symptoms, disability and unmet needs. Community psychiatric visits, social services, education, physical health and needs were significantly associated with CM services. This study may help in identifying patients’ needs and strengthening the CM programme.     

Diseño de una nueva herramienta para la exploración auditiva

IntroductionMany presbycusic patients have difficulty in understanding certain words. This could be justified because certain sounds in Spanish are more difficult to perceive, particularly the sounds with energy in the high frequencies. We propose to use a sentence as a tool to check this theory.Materials and methodAll the Spanish sounds were analyzed, measuring the degree of acoustic energy in all the frequencies. The conclusions drawn from the comparison of the results allowed the design of the tool that is proposed here.ResultsWe established a gradient of perception difficulty, occlusive consonants being the least perceptible, followed by fricative, and finally all those segments with harmony and a clear formant structure. The Spanish sentence “Ana vio ese coche rojizo fino” is proposed as the tool for this study. This sentence has some as it comprises certain peculiarities that makes it particularly useful for this purpose. It will allow us to check whether understanding deteriorates as we move from beginning to end, helping evaluate the importance of high frequencies for intelligibility.ConclusionsA positive result could help in the design of amplification systems to improve speech intelligibility. In addition, the exploratory tool could allow neuro-acoustic exploration, useful in the central auditory pathology studies.     

Proto-oncogene HER-2 in normal,dysplastic and tumorous feline mammary glands: an immunohistochemical and chromogenic in situ hybridization study

Background  

Feline mammary carcinoma has been proposed as a natural model of highly aggressive, hormone-independent human breast cancer. To further explore the utility of the model by adding new similarities between the two diseases, we have analyzed the oncogene HER-2 status at both the protein and the gene levels.     

Dermoids of the posterior fossa. Case reports and review

Three children are presented with dermoid cysts of the posterior fossa, one of the most common locations of dermoid. They were initially diagnosed as having abscesses. Clinical presentations included hydrocephalus and recurrent meningitis. A helpful clue for identification is a bony defect of the skull on plain film or on a bone-window at Computed Tomography (CT).