Objective: Data pertaining to Lynch syndrome within a developing country are sparse. This study explored the emotional reaction to a mutation-positive test result among a group of individuals from South Africa. As genetic information is not only limited to the individual but extends to the biological family, communication patterns and uptake of testing among at-risk family members was also investigated.
View Article and Find Full Text PDFThe Genetic and Endoscopic Surveillance Clinic is an annual outreach service offering accessible colonoscopic surveillance to known families with Lynch syndrome living in remote areas of the Western and Northern Cape Province of South Africa. Unfortunately attendance at this outreach clinic has been declining over several years and fewer than a quarter of participants, attending for surveillance, have been adherent with all their recommended screening appointments. Concerns exist for non-adherent individuals as screening can prevent colorectal cancer by removing the precancerous lesion or enabling the treatment of a malignancy at an early stage.
View Article and Find Full Text PDFThis study aims to evaluate the attitudes of a group of South African parents with a preschool child with Down syndrome (DS) towards prenatal diagnosis (PND) and termination of a Down syndrome-affected pregnancy (TAP). This study employs a qualitative phenomenological approach with the use of semi-structured interviews. Twelve participants were recruited from two state sector hospitals in Cape Town, South Africa.
View Article and Find Full Text PDFHemophilia A and B are X-linked recessive inherited bleeding disorders that have a profound impact on the family of affected individuals. Education is vital to enable women to appreciate the implications of being a carrier and the implications for a prospective child. Prior research has shown that cultural, socio-economic and linguistic issues in South Africa are major barriers to communication for first-language Xhosa-speakers.
View Article and Find Full Text PDFThe success of genetic research studies depend on patients' willingness to participate. It is thus important to explore the attitudes of individuals that participate in such studies. This study used qualitative methods to explore how individuals with inherited retinal degenerative disorders (RDD) perceived participating in genetic research and subsequently receiving mutation results.
View Article and Find Full Text PDFQuestion: Does a recruitment manoeuvre after suctioning have any immediate or short-term effect on ventilation and gas exchange in mechanically-ventilated paediatric patients?
Design: Randomised controlled trial with concealed allocation, assessor blinding, and intention-to-treat analysis.
Participants: Forty-eight paediatric patients with heterogeneous lung pathology. Fourteen patients were subsequently excluded from analysis due to large leaks around the endotracheal tube.
Endotracheal suctioning is performed regularly in ventilated infants and children to remove obstructive secretions. The effect of suctioning on respiratory mechanics is not known. This study aimed to determine the immediate effect of endotracheal suctioning on dynamic lung compliance, tidal volume, and airway resistance in mechanically-ventilated paediatric patients by means of a prospective observational clinical study.
View Article and Find Full Text PDFPediatr Pulmonol
September 2004
Our objective was to determine whether a simple method of maintaining positive pressure ventilation during nonbronchoscopic bronchoalveolar lavage (NB-BAL) would successfully reduce the incidence and/or severity of desaturation events. Our design was a clinical trial with historical controls. Seventy ventilated pediatric patients undergoing diagnostic NB-BAL participated.
View Article and Find Full Text PDFObjective: This paper aims to highlight the physical principles of pressure and flow dynamics underlying endotracheal suctioning, to demonstrate these on a simple illustrative model and to discuss the clinical implications of these principles for paediatric practice.
Design: Prospective in vitro study.
Setting: Paediatric intensive care unit of a tertiary, academic hospital.