Marianne Rohde

Congenital Lesions Associated With Airway Narrowing, Respiratory Distress, and Unexpected Infant and Early Childhood Death

A review was undertaken of the range of possible congenital lesions of the major airways and adjacent tissues that may cause critical compromise of luminal diameter with resultant respiratory arrest from airway occlusion. Lesions included micrognathic syndromes, macroglossia, choanal atresia and stenosis, tumors and choristomas, posterior lingual masses, laryngeal atresia and stenosis, laryngeal webs, laryngeal cysts and laryngoceles, laryngomalacia, tracheomalacia, and bronchomalacia. An autopsy approach to possible congenital obstructive lesions of the upper airway requires: (1) review of the clinical and family histories looking specifically at the nature of the terminal episode; (2) external examination looking for dysmorphic syndromes with mandibular or mid-facial hypoplasia; and (3) internal examination with layer dissection of the soft tissues of the neck and en bloc removal of the upper aerodigestive tract, with photographic recording and histological sampling.

Reclassification of SIDS cases—a need for adjustment of the San Diego classification?

A study was undertaken reclassifying cases of sudden infant death syndrome (SIDS) taken from two geographically separate locations utilizing the San Diego definition with subclassifications. One hundred twenty-eight infant cases were examined from files at Forensic Science South Australia in Adelaide, SA, Australia over a 7.5-year period from July 1999 to January 2007. Thirty-one cases (24%) had initially been diagnosed as SIDS and 30 (23%) as undetermined while 67 (52%) had an explainable cause of death. After reclassification, the number of SIDS cases had increased to 49 of the 128 cases, now representing 38% of the cases; category IB SIDS constituted 10 (20%) and II SIDS 39 (80%) of the SIDS cases. No cases were classified as IA SIDS. Two hundred eighteen infant cases were identified from the files of the Department of Forensic Medicine, Aarhus University, Denmark over a 16-year period from 1992 to 2007. Eighty-two (38%) were originally diagnosed as SIDS, 128 (59%) with identifiable causes of death, and 8 (4%) as unexplained. After review, 77 (35%) cases were reclassified as SIDS, a decrease of 6%. Twenty (26%) infants were classified as category IB SIDS and 57 (74%) as II SIDS. None of the cases met the criteria for IA SIDS. Problems arose in assessing cases with failure to thrive, fever, and possible asphyxia. Modifications to the San Diego subclassifications might improve the consistency of categorizing these cases.

Heat stress and sudden infant death syndrome—Stress gene expression after exposure to moderate heat stress

The aim of the present study was to investigate stress gene expression in cultured primary fibroblasts established from Achilles tendons collected during autopsies from sudden infant death syndrome (SIDS) cases, and age-matched controls (infants dying in a traumatic event). Expression of 4 stress responsive genes, HSPA1B, HSPD1, HMOX1, and SOD2, was studied by quantitative reverse transcriptase PCR analysis of RNA purified from cells cultured under standard or various thermal stress conditions. The expression of all 4 genes was highly influenced by thermal stress in both SIDS and control cells. High interpersonal variance found in the SIDS group indicated that they represented a more heterogeneous group than controls. The SIDS group responded to thermal stress with a higher expression of the HSPA1B and HSPD1 genes compared to the control group, whereas no significant difference was observed in the expression of SOD2 and HMOX1 between the two groups. The differences were related to the heat shock treatment as none of the genes were expressed significantly different in SIDS at base levels at 37 °C. SOD2 and HMOX1 were up regulated in both groups, for SOD2 though the expression was lower in SIDS at all time points measured, and may be less related to heat stress. Being found dead in the prone position (a known risk factor for SIDS) was related to a lower HSPA1B up-regulation in SIDS compared to SIDS found on their side or back. The study demonstrates the potential usefulness of gene expression studies using cultured fibroblasts established from deceased individuals as a tool for molecular and pathological investigations in forensic and biomedical sciences.

Characteristics of human infant primary fibroblast cultures from Achilles tendons removed post-mortem

Primary cell cultures were investigated as a tool for molecular diagnostics in a forensic setting. Fibroblast cultures had been established from human Achilles tendon resected at autopsies, from cases of sudden infant death syndrome and control infants who died in traumatic events (n=41). After isolation of primary cultures cells were stored at -135°C, and re-established up to 15 years later for experimental intervention. Growth characteristics in cultures were evaluated in relation to the age of the donor, the post mortem interval before sampling, and the storage interval of cells before entry into the study. High interpersonal variation in growth rates and cell doubling time was seen, but no statistically significant differences were found with increasing age of the donor (mean 19 weeks), length of post-mortem interval prior to sampling (6-100 h), or increase in years of storage. Fibroblast cultures established from post-mortem tissue are renewable sources of biological material; they can be the foundation for genetic, metabolic and other functional studies and thus constitute a valuable tool for molecular and pathophysiological investigations in biomedical and forensic sciences.

Rape and attempted rape in Aarhus County, Denmark Police reported and unreported cases.

The aim of this study was to compare medical and nonmedical findings in police reported and unreported cases of rape and attempted rape in the county of Aarhus, Denmark, and to explore whether legal outcomes were influenced by medico-legal findings in the cases reported to the police.Data on rapes and attempted rapes were collected from the files of the Department of Forensic Medicine, police reports, and court files. Eighty-seven victims of alleged rape and attempted rape were included in a 14-month period. Of these, 60% were categorized as date rapes, 23% as stranger rapes, and 16% as partner rapes. Sixteen percent did not report the alleged crime to the police, but still participated in a medico-legal examination. Twenty-nine percent filed police reports, but did not have a medico-legal examination undertaken.Extra-genital lesions were more common among the women who filed police reports (63 vs 43%). Women who weee subjected to date rape and partner rape and had not suffered physical injuries were more reluctant to report to the police. Twelve cases were taken to court; 11 offenders were convicted with 1 acquitted. The presence of injuries, vaginal penetration, or the findings of semen, in this study, had not in fluenced the legal outcome.

Respiratory Tract Malacia: Possible cause of sudden death in infancy and early childhood

AIM To stress the importance of considering Laryngo-tracheo-bronchomalacia (LTBM) as a cause of death in infancy and early childhood. METHODS A case of Tracheo-bronchomalacia diagnosed at autopsy is presented, with a short review of the literature. RESULTS The condition causes functional weakness of the airways due to congenital or acquired abnormalities of airway cartilage. The etiology of the congenital variant is uncertain; the acquired may be caused by localized external pressure. Morphologically, cartilage rings are shorter and softer than normal, causing collapse, especially during forced expirations. The defect can be an isolated finding, but there are a number of associations with other malformations. LTBM may be misdiagnosed as asthma. Symptoms include wheezing, barking cough, frequent respiratory infections and cyanotic episodes. Treatment might be conservative or include surgery, depending on etiology and severity. CONCLUSION Laryngo-tracheo-bronchomalacia (LTBM) is usually not considered a sufficient cause of death in infancy and early childhood, but airway malacia may be an unrecognized cause of sudden death in infancy and early childhood, and should be considered, especially in cases where there is a history of respiratory distress.

Intratracheal Seal Disc: A Novel Tracheostoma Closure Device

BACKGROUND: Tracheostomy decannulation is accompanied by several clinical concerns due to air leakage. In this study, we introduced a novel tracheostoma closure device that facilitates the use of noninvasive ventilation, improvement of pulmonary function, and vocalization in the newly decannulated patient. The biosafety and feasibility of the device were evaluated in an animal model. METHODS: Five Danish Landrace pigs were subjected to tracheostomy followed by decannulation and insertion of the tracheostoma closure device. Correct placement of the device was ensured by flexible tracheoscopy. The device consisted of an intratracheal silicone seal disc fixated by a cord through the stoma to an external part. At day 14, computed tomography (CT) was performed before the device was extracted. With the pulling of a cord, the disc unraveled into a thin thread and was extracted through the stoma. At day 21, CT was repeated before euthanasia. The trachea and epidermis were excised en bloc for histopathological evaluation. RESULTS: Insertion and correct placement of the disc was unproblematic in all animals. CT at day 14 confirmed a clear airway, appropriate placement of the disc, and full closure of the tracheostoma. Extraction was successful in one animal but complicated in the remaining animals. There was histological evidence of healing after the foreign body placement. CONCLUSIONS: The study demonstrated that the tracheostoma closure device is feasible and biosafe in a porcine animal model, but the design and quality of the materials need to be improved before clinical trials.

Respiratory Tract Malacia: Possible cause of sudden death in infancy and early childhood: Respiratory tract malacia

Aim: To stress the importance of considering Laryngo‐tracheo‐bronchomalacia (LTBM) as a cause of death in infancy and early childhood. Methods: A case of Tracheo‐bronchomalacia diagnosed at autopsy is presented, with a short review of the literature. Results: The condition causes functional weakness of the airways due to congenital or acquired abnormalities of airway cartilage. The etiology of the congenital variant is uncertain; the acquired may be caused by localized external pressure. Morphologically, cartilage rings are shorter and softer than normal, causing collapse, especially during forced expirations. The defect can be an isolated finding, but there are a number of associations with other malformations. LTBM may be misdiagnosed as asthma. Symptoms include wheezing, barking cough, frequent respiratory infections and cyanotic episodes. Treatment might be conservative or include surgery, depending on etiology and severity. Conclusion: Laryngo‐tracheo‐bronchomalacia (LTBM) is usually not considered a sufficient cause of death in infancy and early childhood, but airway malacia may be an unrecognized cause of sudden death in infancy and early childhood, and should be considered, especially in cases where there is a history of respiratory distress.