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

Forensic medical practitioners are in a unique position as they observe the exact pathology of various diseases in thousands of autopsies performed each year. Most medico-legal autopsies reveal an underlying, natural disease as the cause of death. Such data, relayed to the various stakeholders in the public health sector (including clinical medical practitioners), contribute to determining the population health status as well as identifying and dealing with priority areas.

The added value of molecular-based diagnostics in the African forensic medical setting.

Sudden unexpected infant death (SUDI) is reported to be an extraordinarily high burden in sub-Saharan Africa, with the incidence rate in South Africa among the highest in the world. It is common for the cause of many such infant deaths to remain unexplained even after a full medico-legal death investigation, and then to be categorised as a sudden unexplained infant death (SUID). Fortunately, advances in molecular-based diagnostics allow researchers to identify numerous underlying inherited cardiac arrhythmogenic disorders in many SUDI cases, with a predominance of variants identified in the gene.

Practical tips to using formalin-fixed paraffin-embedded tissue archives for molecular diagnostics in a South African setting.

Background: Formalin-fixed paraffin-embedded (FFPE) tissue archives in hospitals, biobanks, and others offer a vast collection of extensive, readily available specimens for molecular testing. Unfortunately, the use of tissue samples for molecular diagnostic applications is challenging; thus, the forensic pathology FFPE tissue archives in Africa have been a largely unexploited genetic resource, with the usability of DNA obtainable from these samples being unknown.

Intervention: The study, conducted from January 2015 to August 2016, determined the usefulness of FFPE tissue as a reliable source of genetic material for successful post-mortem molecular applications and diagnostics.

Feasibility of analysis of the SCN5A gene in paraffin embedded samples in sudden infant death cases at the Pretoria Medico-Legal Laboratory, South Africa.

To determine variations in the SCN5A gene linked to inherited cardiac arrhythmogenic disorders in sudden, unexplained infant death (SUID) cases examined at the Pretoria Medico-Legal Laboratory, South Africa. A retrospective study was conducted on SUID cases and controls, analyzing DNA extracted from archived formalin-fixed, paraffin-embedded (FFPE) myocardial tissue samples as well as blood samples. A total of 48 FFPE tissue samples (cases), 10 control FFPE tissue samples and nine control blood samples were included.

Long QT syndrome and sudden unexpected infant death.

Long QT syndrome (LQTS) is an inheritable primary electric disease of the heart characterised by abnormally long QT intervals and a propensity to develop atrial and ventricular tachyarrhythmias. It is caused by an inherited channelopathy responsible for sudden cardiac death in individuals with structurally normal hearts. Long QT syndrome can present early in life, and some studies suggest that it may be associated with up to 20% of sudden unexplained infant death (SUID), particularly when associated with external stressors such as asphyxia, which is commonly seen in many infant death scenes.

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.

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.

The effect of 4-nonylphenol on the pigmentation of Ocimum basilicum (Basil).

Background, Aim And Scope: Tests during the last few years have confirmed that 4-nonylphenol (4-NP) can have oestrogen-like effects (xeno-hormone) on animal organisms. The objective was to firstly evaluate the ecotoxicological effects of 4-NP on plants such as hydrocultures. To clarify how this substance interferes with the photosynthetic system of plants, various tests were carried out using the basil plant (Ocimum basilicum).

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.

[Results of Kapandji-Sauvé procedure with distal radio-ulnar fusion and segmental resection of the ulna].

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.