Search

We report on an adult male with Klinefelter phenotype and an isodicentric Y chromosome (47,XX,+idic(Y)(q12)), a combination which has to the best of our knowledge not been reported before. The patient was hospitalized in forensic psychiatry because of repeated delinquency, aggressive, aberrant and inappropriate behavior, and borderline intelligence. Molecular cytogenetic studies (FISH) showed that the SRY gene was present on both ends of the idicY, while there was only one signal for the Yq subtelomere probe. Molecular investigations by multiplex PCR, using STS markers covering the short and long arm of the Y chromosome did not indicate a deletion of Y chromosomal material. Molecular investigations of STR markers located on Xp22.3 and Xq28 indicated paternal origin of the additional X chromosome and an error in paternal meiosis I. Results of FISH analysis and molecular investigations are compatible with a phenotype as described for individuals with a 48,XXYY karyotype and support the findings that isodicentric Y chromosomes are frequently accompanied by other sex chromosomal abnormalities. © 2004 Wiley‐Liss, Inc.

Maternal smoking has long been identified as a risk factor for sudden infant death (SID). However, only few studies analysed the biological plausibility of the relationship between maternal smoking and SID. In Lower Saxony (North Germany), detailed information concerning the perinatal period is routinely obtained for almost all infants born in this region. The perinatal data sets from 190 SID cases who had died between 1986 and 1990 and in whom a full autopsy had been performed were identified and compared to data sets from 5920 random controls, frequency matched to cases on year of birth. After adjusting for potential confounders (socio-economic status, birth weight, maternal age and nationality), smoking during pregnancy was still associated with a significantly increased risk of SID (odds ratio (OR) 2.7, 95% confidence interval (CI) 1.7–4.5). There was a clear dose-effect relationship between the number of cigarettes smoked and the risk of SID: adjusted ORs were 2.6 (1.5–4.4) for 1–10 cigarettes/day, 2.8 (1.8–6.0) for 11–20 cigarettes/day, and 6.9 (1.9–25.5) for >20 cigarettes/day. There also appeared to be an interaction between smoking during pregnancy and maternal anaemia: the risk of SID almost doubled if mothers not only smoked, but were also anaemic (haemoglobin <100 g/l). These results support the concept that smoking during pregnancy has direct biological effects on the fetus which are associated with an increased risk of SID later in life. The exact mechanism(s) whereby smoking increases the risk of SID, however, remains to be determined. The detrimental effects of smoking on SID should be strongly addressed in any national or local campaign aiming to reduce the incidence of SID in a community.

Mucosa-associated lymphoid tissue (MALT) plays a central role in mucosal immunity. Whereas the characteristics and function of MALT in the intestine are well established, almost nothing is known about MALT in the larynx. Methods: In this study we examined the morphology and the lymphocyte subset composition of MALT in the larynges of children who had died of sudden infant death or various defined traumatic or nontraumatic causes. Results: Organized lymphoid tissue was found in the supraglottic parts of the larynx in nearly 80% of the children in both groups. This lymphoid tissue showed all morphological signs of MALT, such as typical lymphoid follicles with germinal centers, infiltration of the overlying epithelium by lymphocytes, and high endothelial venules (HEV). Thus we will use the term LALT (larynx-associated lymphoid tissue) to refer to this tissue. The lymphoid follicles of LALT contained mainly B lymphocytes with some CD4⁺ lymphocytes in the germinal centers. Remarkably, T lymphocytes of both subset types and B lymphocytes were observed in comparable numbers in the parafollicular area. Conclusions: We assume that LALT is a physiological structure of the larynx in young children. The morphology and the distribution of lymphocyte subsets are similar to those of MALT in the human gut. LALT may be a regular part of the mucosal immune system in young children with the role of respiratory inductive site for mucosal immunity. Anat. Rec. 248:413-420, 1997. © 1997 Wiley-Liss, Inc.

In multiple trauma patients with lung contusion, pulmonary complications have been reported that were attributed to intramedullary stabilization of the femur. The reaming procedure of the medullary canal is thought to play a major role. We investigated whether different types of reamers might exert different amounts of fat mobilization into the vascular system and different degrees of pulmonary dysfunction. Adult female Merino sheep were submitted to hemorrhagic shock (2 h, 50 mm Hg) and a unilateral lung contusion; in addition, a lung lymph fistula was created. Pulmonary capillary permeability, central venous triglyceride levels, 11-dehydro-thromboxane B2 (dh- TXB2) levels, and pulmonary artery pressure were determined. After recovery, animals were randomly assigned to intramedullary femoral nailing using several types of reamers group A, AO reamer (n8); group B, Biomet reamer (n7); group H, Howmedica reamer (n6); group C, controls, no reaming (n4). Intramedullary reaming caused a significant (p<0.05) increase in pulmonary artery pressure in groups A and B; dh-TXB2 levels increased in all groups. Statistically significant (p<0.05) pulmonary capillary permeability damage was measured in group A only. Intramedullary femoral nailing can cause transient pulmonary hemodynamic and mediator effects as well as increased pulmonary capillary permeability. In the present study, this effect was evident in group A reamer systems only, which may be due to reamer construction.

In a retrospective analysis, clinical data and histological specimens were obtained from patients (n = 59) who died of severe injury. Three groups with comparable injury severity were differentiated according to the time of death. In group A (death, within 24 h) (n = 15) despite multiple injuries, patients almost always died from brain injury. Pulmonary failure was the leading cause of death in group B (death, days 2–7) (n = 16). The majority of group C patients (death, >7 days) (n = 28) died of multiple organ failure. Organ weights at autopsy were all pathologically high but did not show an association with the amount of intravenous volume infused during intensive care. Organ histology revealed signs of interstitial edema and infiltration of poly-morphonuclear leukocytes in group B patients especially in the lung, and in all groups to a lower degree in liver and kidney. The distribution of interstitial edema and cell necrosis appeared to be organ-specific. Our data confirm the presence of a generalized inflammatory reaction in patients with severe trauma. The pattern of organ failure, in addition to known pathogenetic changes (mediators, endotoxemia, etc.), appears to be influenced by organ structure and perfusion.

Maternal smoking has long been identified as a risk factor for SIDS. However, almost all data available are based on information obtained after SIDS had occurred and are, therefore, potentially influenced by recall bias. In Lower Saxony, detailed information concerning the perinatal period, including information on the number of cigarettes smoked during pregnancy, is routinely obtained for almost all infants born in this region. The neonatal data sets from 190 SIDS cases who had died between 1985 and 1990 and in whom a full post-mortem had been performed were identified and compared to the data sets from 5920 random controls, frequency-matched for year of birth.After adjustment for potential confounders (social class, birthweight, maternal age, ethnicity), smoking during pregnancy was still associated with a significantly increased risk of SIDS (odds ratio(OR) 2.7, 95% CI 1.7-4.5). There was a clear dose-effect relationship between the number of cigarettes smoked during pregnancy and the risk of SIDS: Adjusted ORs were 2.6 (1.5-4.4) for 1-10 cigarettes/day, 2.8 (1.8-6.0) for 11-20cigarettes/day. and 6.9(1.9-25.5) for >20 cigarettes/day.These results confirm previous studies that maternal smoking is one of the most important amongst the potentially amenable risk factors for SIDS. The fact that the ORs found in this study, particularly for heavy smoking (>1 pack/day), were even higher than those observed previously, suggest that the true importance of this risk factor may be understimated if data are obtained only after an infant has died of SIDS.