Communicating cancer risk within an African context: experiences, disclosure patterns and uptake rates following genetic testing for Lynch syndrome.

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. METHODS: Eighty individuals participated in this qualitative interview study. RESULTS: Eight emotional reactions were observed, of which two were of particular concern: (1) secrecy due to disbelief and (2) interpretation of a mutation-positive result as a cancer diagnosis. Disclosure rates of personal genetic test results were high to family members, but low to general healthcare providers. Disclosing the test result was not always followed by a discussion of implications of the genetic information or availability of predictive testing for at-risk family members. The uptake rate of predictive testing among the participants' siblings and children was 97% and 73.6%, respectively. CONCLUSION: Awareness of concerning emotional reactions following the delivery of a genetic test result and insight into disclosure patterns, especially the information that is not communicated, will prove beneficial in improving the effectiveness of counselling and management in Lynch syndrome families. PRACTICE IMPLICATIONS: Implementation of these findings into the PT programme will have a positive effect on the genetic counseling process.

A mobile colonoscopic unit for lynch syndrome: trends in surveillance uptake and patient experiences of screening in a developing country.

The 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. This study explored the experience of surveillance from both the non-adherers' and adherers' perspectives and identified unique factors affecting attendance at the outreach clinic. Rates of compliance are calculated for 191 mutation-positive cases of Lynch syndrome, using strict attendance criteria, and compared to figures obtained from self-reported attendance. Non-compliance was under-reported and compliance was exaggerated when basing data on self-reported adherence to recommendations. Specific characteristics of the outreach clinic affecting compliance are identified and recommendations are made to facilitate improvements to the service. These improvements can result in increased compliance with screening regimens and ultimately reduce cancer-related mortality.

Prenatal diagnosis and termination of pregnancy: perspectives of South African parents of children with Down syndrome.

This 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. Thematic analysis was used to interpret the data. The participants had a positive attitude towards PND and felt that it was every parent's right to have the option. They considered a benefit of PND the fact that it allowed parents time to prepare for the arrival of a baby with DS. The induced miscarriage risk associated with invasive prenatal testing procedures caused major negative feelings. They were totally opposed to the termination of a Down syndrome-affected pregnancy due to their personal experience, moral, ethical or religious convictions. South African parents of preschool children with Down syndrome are comfortable with PND for Down syndrome; however, they do not support TAP. These findings will provide health care providers with further insight into the motivations behind the decisions their patients make.

Understanding of genetic inheritance among Xhosa-speaking caretakers of children with hemophilia.

Hemophilia 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. This exploratory study aimed to investigate the basic knowledge of genetic inheritance among this cultural group in order to promote culturally-sensitive, effective genetic counseling. Ten in-depth interviews were conducted with Xhosa-speaking mothers or caregivers of boys with hemophilia. Results suggest that the participants had a very limited understanding of the clinical management, genetic consequences and cause of hemophilia. While treatment and care by health care service providers was fully accepted, several participants believed that traditional methods would provide them with more satisfactory explanations. These findings suggest that there is a critical need for socio-culturally tailored, language-specific education for families with hemophilia.

Qualitative research methodology in the exploration of patients' perceptions of participating in a genetic research program.

The 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. Individual interviews were conducted with all the individuals in the Cape Town Metropolitan area who had received mutation results after participating in a genetic research program (4 individuals). Although experiences differed significantly, the study revealed that the participants had positive attitudes towards participating in the RDD research program. This study illustrates the importance of using qualitative methods in ophthalmic populations to explore important issues.

A recruitment manoeuvre performed after endotracheal suction does not increase dynamic compliance in ventilated paediatric patients: a randomised controlled trial.

QUESTION: 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. INTERVENTION: The experimental group received a single standardised suctioning procedure followed five minutes later by a standardised recruitment manoeuvre. The control group received only the single suctioning procedure. OUTCOME MEASURES: Measurements of ventilation (dynamic lung compliance, expiratory airway resistance, mechanical and spontaneous expired tidal volume, respiratory rate) and gas exchange (transcutaneous oxygen saturation) were recorded, on three occasions before and on two occasions after the recruitment manoeuvre, using a respiratory profile monitor. RESULTS: There was no difference between the experimental and the control group in dynamic compliance, expired airway resistance, or oxygen saturation either immediately after the recruitment manoeuvre, or after 25 minutes. The experimental group decreased mechanical expired tidal volume by 0.3 ml/kg (95% CI 0.1 to 0.6), increased spontaneous expired tidal volume by 0.3 ml/kg (95% CI 0.0 to 0.6), and increased total respiratory rate by 3 bpm (95% CI 1 to 4) immediately after the recruitment manoeuvre compared with the control group, but these differences disappeared after 25 minutes. CONCLUSION: There is insufficient evidence to support performing recruitment manoeuvres after suctioning infants and children.

Effect of endotracheal suction on lung dynamics in mechanically-ventilated paediatric patients.

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. Lung mechanics were recorded for five minutes before and five minutes after a standardised suctioning procedure in 78 patients intubated with endotracheal tubes < or = 4.0 mm internal diameter. Twenty-four patients with endotracheal tube leaks > or = 20% were excluded from analysis. There was a significant overall decrease in dynamic compliance (p < 0.001) and mechanical expired tidal volume (p = 0.03) following suctioning with no change in the percentage endotracheal tube leak (p = 0.41). The change in dynamic compliance was directly related to both endotracheal tube and catheter sizes. There was no significant change in expiratory or inspiratory airway resistance following suctioning (p > 0.05). Although the majority of patients (68.5%) experienced a drop in dynamic compliance following suctioning, dynamic compliance increased in 31.5% of patients after the procedure. This study demonstrates that endotracheal suctioning frequently causes an immediate drop in dynamic compliance and expired tidal volume in ventilated children with variable lung pathology, intubated with small endotracheal tubes, probably indicating loss of lung volume caused by the suctioning procedure. There is no evidence that suctioning reduces airway resistance.

A simple method of reducing complications of pediatric nonbronchoscopic bronchoalveolar lavage.

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. Two NB-BAL techniques were compared: 1) the "unsealed" method, where the suction catheter was passed through an open system, maintaining oxygenation but not airway pressure; and 2) the "sealed" technique, which was identical except that the catheter was passed through a diaphragm, maintaining positive pressure ventilation throughout. NB-BAL was performed on 35 patients using the "unsealed" technique and 2 years later on 35 patients using the "sealed" method. Heart rate and oxyhemoglobin saturation (SaO(2)) were recorded before, during, and after NB-BAL. There was no difference between groups with regard to demographic data, oxygenation, or ventilatory requirements (P >or= 0.1). The "sealed" group experienced a median drop in SaO(2) of 6.0% (range, -6% to 44%), and the "unsealed" group a drop of 13.0% (-2% to 61%), during NB-BAL (P < 0.05). Patients with oxygenation index greater than 10 experienced the most severe desaturation events in both groups: 53.8% of patients in the "sealed" group with oxygenation index >10 desaturated to <80% vs. 91.6% in the "unsealed" group (P < 0.05). In conclusion, we describe a simple, inexpensive modification of the NB-BAL technique that reduces the incidence and severity of desaturation during NB-BAL.

Endotracheal suctioning: from principles to practice.

OBJECTIVE: 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. MEASUREMENTS AND MAIN RESULTS: The peak pressure change (DeltaP) obtained in a "bag-in-box" model was recorded during suctioning, using different combinations of endotracheal tube (ETT) and catheter sizes, different suction pressures and techniques. Suction was also performed on three different consistencies of gelatine, using a range of suction catheter sizes and vacuum pressures. The mass of gelatine suctioned per second was calculated. A large DeltaP was measured when using neonatal-sized ETTs. There was a linear relationship (r=0,8, p<0.05) between DeltaP and the ratio of external catheter area to area difference (internal ETT area-external catheter area). Significantly greater DeltaP was measured when using a short versus long suction catheter ( p<0.001) and when applying suction for longer duration ( p<0,001) and with higher vacuum pressures ( p<0.05). The amount of mucus suctioned in a given time was related to catheter size, suction pressure and mucus density. CONCLUSION: Applied clinically, these results indicate that intrapulmonary pressure changes generated by the endotracheal suctioning of intubated neonates are likely to be considerable, possibly translating into loss of lung volume.