Postmortem genetic testing in young individuals: What clinical medical practitioners need to know.

The death of a young person is most often a tragic occurrence, more so when this death was unexpected. Forensic pathologists are mandated to investigate such deaths, and there has been a strong move internationally towards genetic testing as an additional investigative tool. The aim of our article is to bring the advantage of implementing the so-called molecular autopsy in a local setting to the attention of medical practitioners. When a multidisciplinary approach is taken in cases of sudden unexpected death, the benefits to family members, and society as a whole, are irrefutable.

Cardiovascular deaths: What do the genes say?

Cardiovascular deaths: What do the genes say?

Sudden and unexpected childhood deaths investigated at the Pretoria Medico-Legal Laboratory, South Africa, 2007 - 2011.

BACKGROUND:  Sudden and unexpected death is well known to occur in infants, and although sudden deaths are less frequent after the first birthday, they still account for a significant proportion of childhood deaths. In 2009, 1.9% of the total deaths in the USA were childhood deaths. In South Africa (SA) this proportion was much higher at 11.85%. According to the law, sudden and unexpected deaths are generally investigated as unnatural deaths. Establishing an exact underlying anatomical cause of death will depend on available resources and can be difficult in a substantial proportion of cases. METHODS:  A retrospective descriptive case audit was conducted at the Pretoria Medico-Legal Laboratory (PMLL), SA, from 1 January 2007 through to 31 December 2011. All children aged 1 - 18 years who died suddenly and unexpectedly were included. RESULTS:  Ninety-eight cases were identified, which constituted nearly 1% of total admissions to the PMLL. The majority of the deaths were of children aged 1 - 5 years, and the male/female ratio was 1.04:1. In the largest proportion of cases (n=28, 28.6%), the medicolegal investigation, including autopsy and ancillary investigations, did not establish an underlying anatomical cause of death. In the cases where a cause of death was established, pneumonia was the most common diagnosis (n=22, 22.4%). CONCLUSION:  The fact that the cause of the largest proportion of deaths could not be ascertained emphasises the need for consideration of additional investigative techniques, such as molecular/genetic screening, which have provided an underlying cause of death in a significant number of cases in other countries. There is a lack of published research on the causes and incidence of sudden unexpected deaths in children in SA, and further research in this area is needed.

Pulmonary gas distribution during ventilation with different inspiratory flow patterns in experimental lung injury -- a computed tomography study.

BACKGROUND: There is still controversy about the optimal inspiratory flow pattern for ventilation of patients with acute lung injury. The aim of this study was to compare the effects of pressure-controlled ventilation (PCV) with a decelerating inspiratory flow with volume-controlled ventilation (VCV) with constant inspiratory flow on pulmonary gas distribution (PGD) in experimentally induced ARDS. METHODS: Sixteen adult sheep were randomized to be ventilated with PCV or VCV after surfactant depletion by repeated bronchoalveolar lavage. Positive end-expiratory pressure (PEEP) was increased in a stepwise manner from zero end-expiratory pressure (ZEEP) to 7, 14 and 21 cm H(2)O in hourly intervals. Respiratory rate, inspiration-to-expiration ratio and tidal volume were kept constant. Central hemodynamics, gas exchange and airway pressures were measured. Electron beam computed tomographic (EBCT) scans of the entire lungs were performed at baseline (preinjury) and each level of end-expiratory pressure during an inspiratory and expiratory hold maneuver. The lungs were three-dimensionally reconstructed and volumetric assessments were made separating the lungs into four subvolumes classified as overinflated, normally aerated, poorly aerated and nonaerated. RESULTS: Pressure-controlled ventilation led to a decrease in peak airway pressure and an increase in mean airway pressure. No differences between groups were found regarding plateau pressures, hemodynamics and gas exchange. Recruitment, defined as a decrease in expiratory lung volume classified as nonaerated, was similar in both groups and predominantly associated with PEEP. Overinflated lung volumes were increased with PCV. CONCLUSIONS: In this model of acute lung injury, ventilation with decelerating inspiratory flow had no beneficial effects on PGD when compared with ventilation with constant inspiratory flow, while the increase in overinflated lung volumes may raise concerns regarding potential ventilator-associated lung injury.

Effects of end-inspiratory and end-expiratory pressures on alveolar recruitment and derecruitment in saline-washout-induced lung injury -- a computed tomography study.

BACKGROUND: Lung protective ventilation using low end-inspiratory pressures and tidal volumes (VT) has been shown to impair alveolar recruitment and to promote derecruitment in acute lung injury. The aim of the present study was to compare the effects of two different end-inspiratory pressure levels on alveolar recruitment, alveolar derecruitment and potential overdistention at incremental levels of positive end-expiratory pressure. METHODS: Sixteen adult sheep were randomized to be ventilated with a peak inspiratory pressure of either 35 cm H2O (P35, low VT) or 45 cm H2O (P45, high VT) after saline washout-induced lung injury. Positive end-expiratory pressure (PEEP) was increased in a stepwise manner from zero (ZEEP) to 7, 14 and 21 cm of H2O in hourly intervals. Tidal volume, initially set to 12 ml kg(-1), was reduced according to the pressure limits. Computed tomographic scans during end-expiratory and end-inspiratory hold were performed along with hemodynamic and respiratory measurements at each level of PEEP. RESULTS: Tidal volumes for the two groups (P35/P45) were: 7.7 +/- 0.9/11.2 +/- 1.3 ml kg(-1) (ZEEP), 7.9 +/- 2.1/11.3 +/- 1.3 ml kg(-1) (PEEP 7 cm H2O), 8.3 +/- 2.5/11.6 +/- 1.4 ml kg(-1) (PEEP 14 cm H2O) and 6.5 +/- 1.7/11.0 +/- 1.6 ml kg(-1) (PEEP 21 cm H2O); P < 0.001 for differences between the two groups. Absolute nonaerated lung volumes during end-expiration and end-inspiration showed no difference between the two groups for given levels of PEEP, while tidal-induced changes in nonaerated lung volume (termed cyclic alveolar instability, CAI) were larger in the P45 group at low levels of PEEP. The decrease in nonaerated lung volume was significant for PEEP 14 and 21 cm H2O in both groups compared with ZEEP (P < 0.005). Over-inflated lung volumes, although small, were significantly higher in the P45 group. Significant respiratory acidosis was noted in the P35 group despite increases in the respiratory rate. CONCLUSION: Limiting peak inspiratory pressure and VT does not impair alveolar recruitment or promote derecruitment when using sufficient levels of PEEP.

[Results of Kapandji-Sauvé procedure with distal radio-ulnar fusion and segmental resection of the ulna]. / Ergebnisse nach radioulnarer Arthrodese mit distaler Ellenteilresektion nach Kapandji-Sauvé

The Kapandji-Sauvé procedure was performed in 75 patients between 1990 and 2003. The most important indication was painful and restricted forearm rotation after fracture of the distal radius combined with dislocation or destruction of the distal radioulnar joint. 25 patients were followed up using a modified Martini score. We found a significant improvement of forearm rotation, reduction of pain and a good patient satisfaction in a long-term follow-up ranging from three to 12 years.