Cystic fibrosis: What’s new in South Africa in 2019

Cystic fibrosis (CF) is one of the most common autosomal recessive  disorders worldwide. The incidence of CF depends on the prevalence of CFTR (cystic fibrosis transmembrane conductance regulator) gene  mutations in the population, which is determined by genetic diversity and ethnicity. Over 2 000 CFTR mutation variants, divided into six distinct functional classes, are now identified, but not all cause CF disease.  Advancements in the molecular diagnosis of CF and recognition of a wider spectrum of CF severity have led to recent revision of CF diagnostic nomenclature and criteria. Identifying which CFTR mutations people with CF carry is important, as novel treatments that target the specific CFTR  dysfunction at a molecular level are now available, and many new drugs are in the pipeline. These and other advancements in CF are comprehensively covered in the revised 5th edition of the South African Cystic Fibrosis Consensus Guidelines, published in 2017. In addition, the South African Cystic Fibrosis  Registry Initiative (SACFRI) was launched in April 2018. SACFRI is a multicentre public-private collaboration of CF healthcare  providers across South Africa (SA), which will prospectively collect data relating to CF diagnosis and  outcomes in SA. Local SA registry data are critical to understanding the epidemiology of CF in SA, and SACFRI willbe an important tool to identify and prioritise areas of CF care that require intervention

On the Increase in Signal Depth due to High-Order Effects in Micro- and Nanosized Deformable Conductors

With regard to the transmission of a thermomechanical signal on extremely short temporal and spatial scales, which represents an issue particularly important dealing with micro- and nanosized electromechanical systems, it is well known that the so-called non-Fourier effects become not negligible. In addition, it has to be considered that the interaction among multiple energy carriers has, as a direct consequence, the involvement of high-order terms in the time-differential formulation of the dual-phase lag heat conduction constitutive equation linking the heat flux vector with the temperature variation gradient. Accepting that the deformations caused by the temperature variations are small enough to be modeled under the assumptions typical of the linear thermoelasticity, in the present article we take into account the highest Taylor expansion orders able to guarantee (under appropriate assumptions) stability conditions, thermodynamic consistency, and at the same time the existence of an influence domain of the external data linked to the energy transmission as thermal waves. To this aim, a cylindrical domain filled by an anisotropic and inhomogeneous thermoelastic material is investigated, although the results obtained will be independent from the considered geometry: for such a reason, we will be able to consider as illustrative examples some simulations referred to single-layer graphene and to show how the expansion orders selected strongly influence the domain of influence depth

Adenovirus-associated pneumonia in South African children: Presentation, clinical course and outcome

Background. Viruses have emerged as important aetiological agents of childhood pneumonia.Objective. To investigate the clinical presentation, severity and outcome of adenovirus-associated pneumonia (AVP) in children.Methods. A retrospective analysis of AVP cases over 12 months was performed, including demographic, clinical course and outcome (death, persistent lung disease (PLD)) data.Results. Two hundred and six AVP cases (median age 12 months, interquartile range 6 - 24) were identified; 70 children (34.0%) were malnourished and 14 (6.8%) were HIV-infected. Twenty-nine children (14.1%) developed PLD, which was associated with hypoxia at presentation in 26 cases (89.7%; p=0.01) and necessitated admission to the intensive care unit (ICU) in 18 (62.1%; p<0.01); 18/206 children (8.7%) died. Admission to the ICU (odds ratio (OR) 8.3, 95% confidence interval (CI) 2.3 - 29.0) and a positive blood culture (OR 11.2, 95% CI 2.3 - 54.1) were independent risk factors for mortality.Conclusions. Adenovirus is a potential cause of pneumonia and PLD in young children in South Africa. ICU admission and a positive blood culture were associated with poor outcome

Overnight oximetry as a screening tool for moderate to severe obstructive sleep apnoea in South African children

Background. Obstructive sleep apnoea (OSA) is common in children yet  often overlooked, as symptom-based screening is unreliable. Polysomnography is regarded as the gold standard for the diagnosis of OSA, but is not widely available in South Africa (SA). Overnight oximetry is a validated screening tool for OSA.Objectives. To describe the impact and utility of overnight oximetry at a tertiary children’s hospital in SA.Methods. A retrospective descriptive study was conducted of patients screened for OSA by overnight oximetry at a paediatric referral hospital from December 2012 to December 2014. Clinical data were retrieved from the oximetry database and medical records. Recordings of ≥6 hours were considered adequate and included in the study. OSA severity was  determined using the McGill score. Details on management and outcome were documented.Results. Oximetry studies in 137 of 153 patients were suitable for analysis (88 males (64.2%), median age 31.4 months (interquartile range (IQR) 15.8 - 65.8). Adenotonsillar hypertrophy was common (n=97, 70.8%), and 65 children (47.4%) had two or more underlying OSA risk factors. McGill’s score classified patients as follows: no/mild OSA n=55 (40.1%), moderate OSA n=23 (16.8%), severe OSA n=23 (16.8%) and very severe OSA n=36 (26.3%). Male gender, adenotonsillar hypertrophy and a lower weight-for-age z-score (–1.3 v. –0.7; p=0.038) were associated with severe to very severe OSA. Seventy-eight children (56.9%) were referred for surgery, 33 (24.1%) receiving urgent surgery within a median of 6 days (IQR 4 - 12). In contrast, 59 children (43.1%) with suspected OSA did not require surgical intervention.Conclusions. Overnight oximetry is a simple low-cost tool to assess severity of OSA and prioritise appropriate OSA management in resource-constrained settings such as SA

On microstretch thermoviscoelastic composite materials

In this paper we derive a continuum theory for a thermoviscoelastic composite using an entropy production inequality proposed by Green and Laws, presented in Lagrangian description. The composite is modeled as a mixture of a microstretch viscoelastic material of KelvineVoigt type and a microstretch elastic solid. The strain measures and the basic laws are shown and the thermodynamic restrictions are established. Then the linear theory is considered and the constitutive equations are given in both anisotropic and isotropic cases. Finally, a uniqueness result is established within the framework of the linear theory

Reconstruction of round voids in the elastic half-space: Antiplane problem

We study the reconstruction of geometry (position and size) of round voids located in the elastic half-space, in frames of antiplane two-dimensional problem. We assume that a known point force is applied to the boundary surface of the half-space, and we can measure the shape of the surface over a certain finite-length interval. Then, if the geometry of the defect is unknown, we construct an algorithm to restore its position and size. Some numerical examples demonstrate a good stability of the proposed algorithm

Conducting research in Africa: Lessons from the COAST trial

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Comunicação com Familiares de Pacientes em Cuidados Paliativos Perinatais

Este estudo tem como tema a comunicação realizada entre a equipe hospitalare os familiares de pacientes que estão sob os cuidados paliativos perinatais, de queforma esta ferramenta imprescindível para o atendimento aos pais pode ser utilizadade forma eficiente pela equipe multidisciplinar e como torná-la humanizada. Para tantorealizou-se uma pesquisa bibliográfica considerando as orientações dos manuais decuidados paliativos e comunicação de más notícias desenvolvidos pelo Instituto Nacionaldo Câncer e Sociedade Beneficente Israelita Albert Einstein, entre outros, buscandoadaptar as recomendações para o cenário vivenciado dentro do cuidado paliativoperinatal. Conclui-se que diante de grande sofrimento dos pais, a comunicaçãorealizada de forma empática e humana pode contribuir de forma significativa na compreensãoe aceitação da doença, o protocolo SPIKES é apontado como uma ferramentaeficiente na comunicação de más notícias, porém é fundamental que o profissionaltenha características como solidariedade, humanidade, compaixão e saiba se colocarno lugar dos pais deste bebê