Monosomy and trisomy of 15q24→qter in a family with a translocation t(6;15)(P25;q24)

A child with multiple anomalies, including growth retardation, a left-sided diaphragmatic hernia with lung hypoplasia, and cerebral malformations is described. Cytogenetic investigation demonstrated a deletion of the distal part of one chromosome 15, del(15)(q24qter), an aberration not previously described. Family studies revealed that the mother had a balanced translocation, t(6;15)(p25;q24). Two of her subsequent pregnancies resulted in abortions after prenatal diagnosis: one fetus was trisomic for 15q24→qter, while the other had monosomy 15q24→qter and a left-sided diaphragmatic hernia similar to the first child.     

The effect of immunotherapy on eosinophil accumulation and production of eosinophil chemotactic activity in the lung of subjects with asthma during natural pollen exposure

Two groups of birch pollen--allergic patients with seasonal rhinoconjunctivitis and asthma were followed during two consecutive birch-pollen seasons, one group, N = 10, during a season with high pollen load, and one group, N = 15, during a season of low pollen load. Half the patients were treated with immunotherapy (IT) for 3 and 4 years, respectively. The other half of the patients served as control group (non-IT). Bronchoalveolar lavage (BAL) was performed once before each season and once during the pollen season. Eosinophil (EOS) numbers in BAL were increased (p less than 0.01) during the season with high pollen load but not in the season with a low pollen load, and this increment was absent in the IT-treated group. Also, the EOS cationic protein levels were raised in the non-IT-treated group during the season with a high pollen load. The levels of EOS and neutrophil chemotactic activity were raised in BAL in both seasons in the non-IT-treated group compared with the IT-treated group (p less than 0.02, p less than 0.003, p less than 0.04, and p less than 0.005 in high- and low-load pollen season, respectively). Serum and BAL eosinophil chemotactic activity (ECA) were positively correlated (p less than 0.001). We conclude that there is an influx of active EOSs into the lung of pollen-allergic patients with asthma during a pollen season, which may be abrogated by IT. Furthermore, the generation of ECA appears to be an extremely sensitive marker of antigenic exposure, and the potent inhibition of the generation of ECA by IT may provide a clue as to the mechanism of this treatment.     

Extraskeletal myxoid chondrosarcoma: multimodal diagnosis and identification of a new cytogenetic subgroup characterized by t(9;17)(q22;q11)

Extraskeletal myxoid chondrosarcoma is a rare malignant soft tissue tumour that can be difficult to diagnose correctly, especially preoperatively. We describe four cases of extraskeletal myxoid chondrosarcoma of the extremities diagnosed by a multimodal approach. The cytological examination of fine-needle aspirates showed small and round, mildly pleomorphic cells lying in sheets and cords, but also dispersed within a myxoid and metachromatic intercellular substance. Histological, electron microscopic and immunocytochemical examination also yielded findings compatible with the diagnosis of extraskeletal myxoid chondrosarcoma. Cytogenetic analysis demonstrated a t(9;22)(q22;q12) in two tumours and a t(9;17)(q22;q11) in the third and fourth. The translocation t(9;22)(q22;q12) has been described repeatedly in extraskeletal myxoid chondrosarcoma but never in other tumours; hence, the detection of this pathognomonic chromosome abnormality in short-term cultured cells from fine-needle aspirates verified the diagnosis in two of the cases. The t(9;17)(q22;q11) found in the last two cases probably represents a new cytogenetic subgroup of extraskeletal myxoid chondrosarcoma as it, too, is unknown in other contexts. The multimodal approach taken in these four cases enabled a definite diagnosis of a rare malignant tumour whose cytological and histological features alone are usually not sufficiently distinct to rule out other differential diagnostic possibilities. Received: 16 March 1999 / Accepted: 1 June 1999     

Release of intracellular enzymes from cutaneous cells after non-necrotizing damage by ultraviolet light

Summary Experimental blisters were produced with suction on normal human skin and simultaneously on skin inflamed after exposure to middle wave ultraviolet light. Total proteins and marker enzymes for the plasma membrane, cytosol, lysosomes, peroxisomes, mitochondria, and microsomes were assayed in the blister fluid. In blisters on erythematous skin, a large increase of lactate dehydrogenase from cytosol was noted. A small increase of the plasma membrane marker phosphodiesterase I and some increase of -mannosidase from lysosomes was also found. No significant increase in total proteins or in the markers for peroxisomes was observed, whereas mitochondrial and microsomal marker enzymes were not detectable.It is concluded that cutaneous cells to some extent may lose intracellular enzymes without visible signs of irreversible damage (necrosis), but that an UVB-induced injury/regeneration cycle probably explains the enzyme release.     

The effect of grinding of human dentine examined by X-ray diffraction, infrared spectroscopy, and electron microscopy

Analysis of human dentine by infrared spectrophotometry suggests that ball-grinding may result in damage of the apatite crystallites. The present study includes further assessments of this effect by X-ray diffraction, infrared spectroscopy, and electron microscopy. Each of three coarse-ground dentine samples (Group I) was divided into three portions of 30 mg. One of these portions was ball-ground for approximately 1 min (Group II), the second portion for 6 min (Group III), and the third portion for 23 min (Group IV). The 002 reflection showed line broadening, most marked from Group II to III. Electron microscopy showed a gradual change in crystallite appearance with increased grinding, most pronounced from Group II to III. These observations indicate that by prolonged grinding a limit is approached where no further changes in the crystallites occur. Electron microscopy also indicated that fracture of the crystallites might have occurred. This was probably accompanied by strains in the lattice. The infrared spectra indicated that no breakdown of the apatite structure had occurred during the entire grinding.     

Experiences with nutrition-related information during antenatal care of pregnant women of different ethnic backgrounds residing in the area of Oslo,Norway

Objectiveto explore experiences with nutrition-related information during routine antenatal care among women of different ethnical backgrounds.Designindividual interviews with seventeen participants were conducted twice during pregnancy. Data collection and analysis were inspired by an interpretative phenomenological approach.Settingparticipants were purposively recruited at eight Mother and Child Health Centres in the area of Oslo, Norway, where they received antenatal care.Participantsparticipants had either immigrant backgrounds from African and Asian countries (n=12) or were ethnic Norwegian (n=5). Participants were pregnant with their first child and had a pre-pregnancy Body Mass Index above 25 kg/m².Findingsparticipants experienced that they were provided with little nutrition-related information in antenatal care. The information was perceived as presented in very general terms and focused on food safety. Weight management and the long-term prevention of diet-related chronic diseases had hardly been discussed. Participants with immigrant backgrounds appeared to be confused about information given by the midwife which was incongruent with their original food culture. The participants were actively seeking for nutrition-related information and had to navigate between various sources of information.Conclusionsthe midwife is considered a trustworthy source of nutrition-related information. Therefore, antenatal care may have considerable potential to promote a healthy diet to pregnant women. Findings suggest that nutrition communication in antenatal care should be more tailored towards women's dietary habits and cultural background, nutritional knowledge as well as level of nutrition literacy.     

Gastroesophageal Reflux and Rhinosinusitis

Gastro-esophageal reflux disease (GERD) and chronic rhino-sinusitis (CRS) are prevalent disorders. Coexistence by chance is to be expected in a number of patients. Coexistence due to shared pathogenic mechanisms is controversial. In this paper, we have described the characteristics of GERD and CRS epidemiologically, diagnostically, and pathophysiologically, and reviewed the existing data about a potential role of gastro-esophageal reflux (GER) in the pathogenesis of CRS. A causal link between GERD and CRS has so far not been sufficiently documented. However, some studies do indicate a correlation. Hence, anti-reflux measures should be considered as an option in CRS, particularly in patients where conventional medical and surgical treatment is insufficient.     

Screening for risk of violence using service users’ self‐perceptions: A prospective study from an acute mental health unit

Service users’ self‐perception of risk has rarely been emphasized in violence risk assessments. A recent review pointed to the importance of a multidisciplinary approach, because different perspectives may provide a deeper and improved understanding of risk assessment. The aim of this study was to investigate service users’ perceptions of their own risk of committing violence, using a self‐report risk scale, to determine the feasibility and efficacy of this potential violence risk marker during acute mental health hospitalization. All service users admitted to a psychiatric emergency hospital in Norway during one calendar year were included (N = 512). Nearly 80% self‐reported no risk or low risk; only seven (1.4%) reported moderate risk or high risk. Service users who reported moderate risk, high risk, don't know, or won't answer were more likely to be violent (OR = 4.65, 95% CI = 2.79–7.74) compared with those who reported no risk or low risk. There was a significant gender interaction with higher OR for women on both univariate and multivariate analyses. Although the OR was higher for women, women's violence rate (11.0%) was almost half that of men (21.8%). For women, sensitivity and specificity were 0.55 and 0.88, respectively; corresponding values for men were 0.40 and 0.80. Inclusion of self‐perception of violence risk is the first step towards service users’ collaborative involvement in violence prediction; these results indicate that self‐perception can contribute to violence risk assessments in acute mental health settings. Findings also indicate that there are gender differences in these assessments.     

Is the hospital decision to seek accreditation an effective one?

The rapid expansion in the number of accredited hospitals justifies inquiry into the motives of hospitals in seeking accreditation and its social effectiveness. This paper presents a simple decision‐theoretic framework where cost reductions and improved quality of care represent the endpoint benefits from accreditation. We argue that hospital accreditation, although acting as a market‐signaling device, might be a socially inefficient institution. First, there is at present no convincing evidence for accreditation causing output quality improvements. Second, hospitals could seek accreditation, even though doing so is socially inefficient, because of moral hazard, consumer misperceptions, and nonprofit motivations. Finally, hospitals that seek accreditation need not themselves believe in output quality improvements from accreditation. Consequently, while awaiting additional evidence on accreditation, policy makers and third‐party payers should exercise caution in encouraging such programs. Copyright © 2014 John Wiley & Sons, Ltd.     

Risk factors for childhood respiratory disease. Analysis of pulmonary function

Four thousand elementary-school-age children from a rural area of western Pennsylvania participated in a cross-sectional survey that consisted of a standardized respiratory questionnaire completed by their parents and spirometric testing at school. Spirographic tracings were digitized to obtain the FVC, FEV0.75, FEF25-75, Vmax75, and Vmax90, which were standardized for height, age, and sex for the subsequent analyses. Independent associations of potential risk factors with the standardized pulmonary function measures were evaluated with multiple regression techniques. Asthma, persistent wheeze, and parental smoking habits, especially those of the mothers, were associated with lower flow rates. The effect of parental smoking was primarily due to smoking by the mother and was stronger in girls. In female children of currently smoking mothers, FEF25-75 was 96% of predicted, Vmax75 was 95% of predicted, and Vmax90 was 92% of predicted; each flow measure was 98% of predicted in male children of smoking mothers. Prolonged hospitalization at birth was independently associated with lower FEV0.75 and flow rates. Low socioeconomic status was associated with lower FVC and FEV0.75. Neither current gas stove use nor a history of severe chest illness before 2 yr of age were independently associated with lower levels of pulmonary function.