This study aimed to explore the decision-making process of patients with pregnancies affected by serious congenital abnormalities.
The study design was an exploratory qualitative study. The sample ...for this study was pregnant individuals who had a prenatal diagnosis of a serious congenital abnormality and were offered termination of pregnancy. Semi-structured face-to-face interviews with closed and open-ended questions, recorded and transcribed verbatim, were used to collect the data; this was then analyzed using a thematic data analysis approach.
Five topics were developed: “Health care services”, “Home”, “Being a mother”, “Finding meaning”, and “The aftermath”. The first four topics describe the decision-making process where the participants filtered through multiple factors to reach their final decision. Although the participants consulted with their families, partners, and community, they made the final decision themselves. The final topics describes activities which were necessary for closure and coping.
This study has provided valuable insight into the decision-making process, which can be used to improve services offered to patients.
Information should be communicated clearly with follow-up appointments to discuss further. Healthcare professional should show empathy and assure the participants that their decision is supported.
•There are limited qualitative data on termination of pregnancy decision-making for serious congenital abnormalities in the African setting.•This paper provides insight into the decision-making process of pregnant individuals from the Western Cape, South Africa.•Decision-making for terminating pregnancy affected by congenital abnormality is multifaceted but with one deciding factor.•Contrary to what is anecdotally expected, in this study the participants made the final decision.•Tragic optimism was necessary for the participants to carry on with their lives.
Human genetics is the study of inheritance as it occurs in human beings. It encompasses several overlapping areas, including cytogenetics, molecular genetics, biochemical genetics, genomics, clinical ...genetics, developmental genetics, population genetics and genetic counselling. Genes can be the common factor underlying the qualities of most human-inherited traits. The study of human genetics can be useful, as it can answer questions about human nature, understand diseases and development of effective disease treatment, and contribute to understanding genetics of human life. DNA contains instructions for everything our cells do, from conception until death. Studying the human genome allows us to explore fundamental details about ourselves.
That the fundamental aspects of heredity should have turned out to be so extraordinarily simple supports us in the hope that nature may, after all, be entirely approachable. Her much-advertised ...inscrutability has once more been found to be an illusion due to our ignorance. This is encouraging, for, if the world in which we live were as complicated as some of our friends would have us believe, we might well despair that biology could ever become an exact science. (Thomas Hunt Morgan, 1856 - 19451) Since antiquity, the hereditary nature of health and disease has been appreciated. For instance, recognition that epilepsy, the ‘sacred disease’, was not truly sacred, but may have its origins in heredity, was described in Hippocratic times.
Objective
Resources for management of epilepsy in Africa are extremely limited reinforcing the need to develop innovative strategies for optimizing care. Studies have shown that the prevalence of ...epilepsy in low‐ and middle‐income countries is substantially greater than in more resourced countries. The objective of this report was to demonstrate that mobile Health (mHealth) technologies have the potential to improve the management of epilepsy in Africa.
Methods
The feasibility of technology‐based home monitoring was investigated in an observational study of 40 children with refractory epilepsy or epilepsy associated with intellectual disability and/or behavior difficulties in South Africa. Technology‐based home monitoring was implemented for six months. Physical activity, sleep, and heart rate were continuously monitored with a wearable device. Caregivers completed regular mobile Patient Reported Outcomes (mPROs) and reported seizures and ad hoc events using a dedicated app. Feasibility was assessed and descriptively measured for recruitment, retention, and engagement of the participants.
Results
The mHealth technology was able to capture important information that gives an impression of the overall experience of the children and their caregivers. Thirty‐seven participants (94.9%) reported at least one clinical event. Seventy‐nine percent of caregivers reported seizure events in their children, which were the primary event anticipated. Median engagement with the wearable device and monthly mPROs was 30.8% and 57.1%, respectively. However, most participants (87%) had to be given smartphones for them to have Bluetooth capabilities and access to the study app. Tolerability to the device was impacted by the difficult living circumstances of caregivers that induced fear of loss or theft.
Significance
The study showed how the use of remote patient monitoring in the form of mHealth can benefit epilepsy patients, despite highly variable engagement with the technology. The combination of mPROs and wearable devices generated informative datasets that will allow clinicians but also the children and their caregivers to better understand and manage the disease.
PurposeThe Western Cape Pregnancy Exposure Registry (PER) was established at two public sector healthcare sentinel sites in the Western Cape province, South Africa, to provide ongoing surveillance of ...drug exposures in pregnancy and associations with pregnancy outcomes.ParticipantsEstablished in 2016, all women attending their first antenatal visit at primary care obstetric facilities were enrolled and followed to pregnancy outcome regardless of the site (ie, primary, secondary, tertiary facility). Routine operational obstetric and medical data are digitised from the clinical stationery at the healthcare facilities. Data collection has been integrated into existing services and information platforms and supports routine operations. The PER is situated within the Provincial Health Data Centre, an information exchange that harmonises and consolidates all health-related electronic data in the province. Data are contributed via linkage across a unique identifier. This relationship limits the missing data in the PER, allows validation and avoids misclassification in the population-level data set.Findings to dateApproximately 5000 and 3500 pregnant women enter the data set annually at the urban and rural sites, respectively. As of August 2021, >30 000 pregnancies have been recorded and outcomes have been determined for 93%. Analysis of key obstetric and neonatal health indicators derived from the PER are consistent with the aggregate data in the District Health Information System.Future plansThis represents significant infrastructure, able to address clinical and epidemiological concerns in a low/middle-income setting.
Bardet-Biedl syndrome is a pleiotropic disorder with 14 BBS genes identified. BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, and BBS9 form a complex called the BBSome, which is believed to recruit Rab8(GTP) to ...the primary cilium and promote ciliogenesis. The second group, the chaperonin-like proteins BBS6, BBS10, and BBS12, have been defined as a vertebrate-specific branch of the type II chaperonin superfamily. These may play a role in the regulation of BBSome assembly.
Using sequence analysis, the role of BBS6, 10 and 12 was assessed in the patient population comprising 93 cases from 74 families. Systemic and ocular phenotypes were defined. In the study, chaperonin-like BBS gene mutations accounted for the disease in approximately 36.5% of BBS families. A total of 38 different non-polymorphic exonic sequence variants were identified in 40.5% of BBS families (41.9% cases), of which 26 were novel (68%). Six cases had mutations present in more than one chaperonin-like BBS gene. One case with four mutations in BBS10 had a phenotype of overall greater severity. The phenotypes observed were beyond the classic BBS phenotype as they overlapped with characteristics of MKKS (congenital heart defect, vaginal atresia, hydrometrocolpos, cryptorchidism), as well as Alström syndrome (diabetes, hearing loss, liver abnormalities, endocrine anomalies, cardiomyopathy).
While overlap between the MKKS and BBS phenotypes has previously been reported for cases with BBS6 mutations, we also observed MKKS phenotypes involving BBS10 and BBS12 and Alström-like phenotypes associated with mutations in BBS1, BBS2, BBS6, BBS7, BBS9, BBS10 and BBS12 for the first time.
Background: In 2013, a pregnancy exposure registry and birth defects surveillance (PER/BDS) system was initiated in eThekwini District, KwaZulu-Natal (KZN), to assess the impact of antiretroviral ...treatment (ART) on birth outcomes.Objectives: At the end of the first year, we assessed the risk of major congenital malformations (CM) and other adverse birth outcomes (ABOs) detected at birth, in children born to women exposed to ART during pregnancy.Method: Data were collected from women who delivered at Prince Mshiyeni Memorial Hospital, Durban, from 07 October 2013 to 06 October 2014, using medicine exposure histories and birth outcomes from maternal interviews, clinical records and neonatal surface examination. Singleton births exposed to only one ART regimen were included in bivariable analysis for CM risk and multivariate risk analysis for ABO risk.Results: Data were collected from 10 417 women with 10 517 birth outcomes (4013 38.5% HIV-infected). Congenital malformations rates in births exposed to Efavirenz during the first trimester (T1) (RR 0.87 95% CI 0.12–6.4; p = 0.895) were similar to births not exposed to ART during T1. However, T1 exposure to Nevirapine was associated with the increased risk of CM (RR 9.28 95% CI 2.3–37.9; p = 0.002) when compared to the same group. Other ABOs were more frequent in the combination of HIV/ART-exposed births compared to HIV-unexposed births (29.9% vs. 26.0%, adjusted RR 1.23 1.14–1.31; p Conclusion: No association between T1 use of EFV-based ART regimens and CM was observed. Associations between T1 NVP-based ART regimen and CM need further investigation. HIV- and ART-exposed infants had more ABOs compared to HIV-unexposed infants.
This report describes the first case of a child with genetically confirmed Brown-Vialetto-Van Laere syndrome (BVVL) in sub-Saharan Africa. This is an extremely rare clinical condition that presents ...with an auditory neuropathy, bulbar palsy, stridor, muscle weakness and respiratory compromise that manifests with diaphragmatic and vocal cord paralysis. It is an autosomal recessive condition for which the genetic mutation has only recently been linked to a riboflavin transporter deficiency. We describe an 11 month old affected male infant. He has required long term respiratory support and a gastrostomy tube to support feeding. With high dose riboflavin supplementation he had limited recovery of motor function. His respiratory chain enzyme studies were abnormal suggestive of mitochondrial dysfunction. In the setting of limited resources, recognition of this striking clinical phenotype is important to highlight, specifically with regards to the genetic implications of the condition and the potentially remedial response to vitamin supplementation.
Congenital heart defects and skeletal malformations syndrome (CHDSKM; OMIM #617602) is a rare syndrome characterized by distinctive facial features, congenital cardiac lesions, failure to thrive, and ...skeletal abnormalities. Hearing impairment, renal, and ophthalmological abnormalities have also recently been reported. We report here the clinical and molecular phenotype of an adolescent male who presented with multisystem involvement suggestive of a connective tissue disorder. The proband presented with the typical dysmorphic, skeletal, and skin findings of CHDSKM. In addition, he had several features not previously documented, including severe and rapidly progressive aortic root dilatation as well gastro-intestinal reflux secondary to esophageal dysmotility with gastric strictures. Genetic testing revealed a recurrent variant in the ABL1 gene, c.1066G>A, p.Ala356Thr. These novel features contribute to the growing body of knowledge regarding this rare and recently described condition as well as lend strength to previous calls for close surveillance of the aortic root from a young age in CHDSKM.
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