Metal mining and birth defects : a case-control study in Lubumbashi, Democratic Republic of the Congo

Background Widespread environmental contamination caused by mining of copper and cobalt has led to concerns about the possible association between birth defects and exposure to several toxic metals in southern Katanga, Democratic Republic of the Congo (DRC). We therefore aimed to assess the possible contribution of parental and antenatal exposure to trace metals to the occurrence of visible birth defects among neonates. Methods We did a case-control study between March 1, 2013, and Feb 28, 2015, in Lubumbashi, DRC. We included newborns with visible birth defects (cases) and healthy neonates born in the same maternity ward (controls). Mothers were interviewed about potentially relevant exposures, including their partners' jobs. Various trace metals were measured by inductively coupled plasma mass spectrometry in maternal urine, maternal blood, umbilical cord blood, placental tissue, and surface dust at home. Multivariable logistic regression analyses were done to calculate adjusted odds ratios and their 95% CIs (CI). Findings Our study included 138 neonates with visible birth defects (about 0.1% of the 133 662 births in Lubumbashi during the study period) and 108 control neonates. Potential confounders were similarly distributed between cases and controls. Vitamin consumption during pregnancy was associated with a lower risk of birth defects (adjusted odds ratio 0.2, 95% CI 0.1-0.5). Mothers having paid jobs outside the home (2.8, 1.2-6.9) and fathers having mining-related jobs (5.5, 1.2-25.0) were associated with a higher risk of birth defects. We found no associations for trace metal concentrations in biological samples, except for a doubling of manganese (Mn; 1.7, 1.1-2.7) and zinc (Zn; 1.6, 0.9-2.8) in cord blood. In a separate model including placentas, a doubling of Mn at the fetal side of the placenta was associated with an increased risk of birth defects (3.3, 1.2-8.0), as was a doubling of cord blood Zn (5.3, 1.6-16.6). Interpretation To our knowledge, this is the first study of the effects of mining-related pollution on newborns in sub-Saharan Africa. Paternal occupational mining exposure was the factor most strongly associated with birth defects. Because neither Mn nor Zn are mined in Lubumbashi, the mechanism of the association between their increased prenatal concentrations and birth defects is unclear

Chronic respiratory disease observatory for Africa (CHEST-Africa): study protocol for the prevalence, determinants and economic impacts of asthma and COPD in Africa

Introduction: Contemporary data on the burden of chronic respiratory diseases in sub-Saharan Africa is limited. More so, their economic burden is not well described. This study aims to establish a chronic respiratory disease observatory for Africa. Specific study aims are (1) to describe the prevalence and determinants of asthma with a target to screen up to 4000 children and adolescents across four African cities; (2) to determine the prevalence and determinants of chronic obstructive pulmonary disease (COPD) with a target to screen up to 3000 adults (≥18 years) across five African cities; (3) to describe the disease burden by assessing the frequency and severity of symptoms and exacerbations, medication use, emergency healthcare utilisation and hospitalisation; and (4) to assess the economic burden and affordability of the medicines for these diseases. Methods and analysis: Surveys will be conducted in schools to identify children and adolescents with asthma using the Global Asthma Network screening questionnaire in Ghana, Nigeria, the Democratic Republic of Congo, and Uganda. Community surveys will be conducted among adults using an adapted version of the Burden of Obstructive Lung Disease Questionnaire to identify persons with COPD symptoms in Nigeria, Burkina Faso, Mozambique, Rwanda, and Sierra Leone. Fractional exhaled nitric oxide and pre-bronchodilator and post-bronchodilator spirometry will be done for children with asthma or asthma symptoms and for all adult participants. Children and adults with respiratory symptoms or diagnoses will complete the health economic questionnaires. Statistical analysis will involve descriptive and analytical statistics to determine outcomes. Ethics and dissemination: Ethical approval has been obtained from participating institutions. This study’s results will inform deliberations at the United Nations General Assembly high-level meeting on non-communicable diseases in 2025. The results will be shared through academic conferences and journals and communicated to the schools and the communities

Preeclampsia and blood lead (and other metals) in Lubumbashi, DR Congo.

Among parturient women in Lubumbashi, blood lead concentrations [geometric means (25th-75th percentiles)] were higher among 40 women with preeclampsia [6.66 µg/dL (5.16-79.4)] than among 39 control women matched for age and gestation duration [5.08 µg/dL (4.27-6.30)]. Blood lead exceeded 5 µg/dL in 33 (83%) preeclamptic women and 17 (44%) control women [odds ratio 6.1 (95%CI 2.1-17.1)]. In another study, we found high levels of lead in surface dust collected in front of homes in Lubumbashi (36/127 samples exceeding 120 µg lead/g dust). Our findings support the conclusions of a systematic review that increased blood lead level increases the likelihood of preeclampsia. Moreover, our study indicates that, as in other urban areas in Africa, exposure to lead is unacceptably high among pregnant women in Lubumbashi. Preventive measures are needed to protect mothers and children from the serious adverse effects of lead exposure

Holoprosencephaly: A case series from an area with high mining-related pollution

BACKGROUND: The extraction and processing of copper and cobalt in the African Copperbelt in the Democratic Republic of Congo have led to substantial environmental pollution, causing concerns about possible adverse effects on human health, including birth defects. CASES: We report three neonates with clinically diagnosed holoprosencephaly who were part of a case-control study performed in Lubumbashi between February 2013 and February 2015. One mother had a high concentration of uranium in urine, and high manganese concentrations were found in blood of another mother and in cord blood of one infant. Two of the three fathers had a mining-related job. DISCUSSION: We hypothesize that these cases of holoprosencephaly were connected to mining-related pollution, possibly via epigenetic alterations induced by paternal occupational exposure to toxic metals.status: publishe

Acute and chronic exposure to air pollution in relation with incidence, prevalence, severity and mortality of COVID-19 : a rapid systematic review

CITATION: Katoto, P. D. M. C., et al. 2021. Acute and chronic exposure to air pollution in relation with incidence, prevalence, severity and mortality of COVID-19 : a rapid systematic review. Environmental Health, 20:41, doi:10.1186/s12940-021-00714-1.The original publication is available at https://ehjournal.biomedcentral.comBackground: Air pollution is one of the world’s leading mortality risk factors contributing to seven million deaths annually. COVID-19 pandemic has claimed about one million deaths in less than a year. However, it is unclear whether exposure to acute and chronic air pollution influences the COVID-19 epidemiologic curve. Methods: We searched for relevant studies listed in six electronic databases between December 2019 and September 2020. We applied no language or publication status limits. Studies presented as original articles, studies that assessed risk, incidence, prevalence, or lethality of COVID-19 in relation with exposure to either short-term or long-term exposure to ambient air pollution were included. All patients regardless of age, sex and location diagnosed as having COVID-19 of any severity were taken into consideration. We synthesised results using harvest plots based on effect direction. Results: Included studies were cross-sectional (n = 10), retrospective cohorts (n = 9), ecological (n = 6 of which two were time-series) and hypothesis (n = 1). Of these studies, 52 and 48% assessed the effect of short-term and longterm pollutant exposure, respectively and one evaluated both. Pollutants mostly studied were PM2.5 (64%), NO2 (50%), PM10 (43%) and O3 (29%) for acute effects and PM2.5 (85%), NO2 (39%) and O3 (23%) then PM10 (15%) for chronic effects. Most assessed COVID-19 outcomes were incidence and mortality rate. Acutely, pollutants independently associated with COVID-19 incidence and mortality were first PM2.5 then PM10, NO2 and O3 (only for incident cases). Chronically, similar relationships were found for PM2.5 and NO2. High overall risk of bias judgments (86 and 39% in short-term and long-term exposure studies, respectively) was predominantly due to a failure to adjust aggregated data for important confounders, and to a lesser extent because of a lack of comparative analysis. Conclusion: The body of evidence indicates that both acute and chronic exposure to air pollution can affect COVID-19 epidemiology. The evidence is unclear for acute exposure due to a higher level of bias in existing studies as compared to moderate evidence with chronic exposure. Public health interventions that help minimize anthropogenic pollutant source and socio-economic injustice/disparities may reduce the planetary threat posed by both COVID-19 and air pollution pandemics.https://ehjournal.biomedcentral.com/articles/10.1186/s12940-021-00714-1Publisher's versio

Usefulness of automated image analysis for recognition of the fragile X syndrome gestalt in Congolese subjects.

peer reviewed[en] BACKGROUND: Computer-aided software such as the facial image diagnostic aid (FIDA) and Face2Gene has been developed to perform pattern recognition of facial features with promising clinical results. The aim of this pilot study was to test Face2Gene's recognition performance on Bantu Congolese subjects with Fragile X syndrome (FXS) as compared to Congolese subjects with intellectual disability but without FXS (non-FXS). METHOD: Frontal facial photograph from 156 participants (14 patients with FXS and 142 controls) predominantly young-adults to adults, median age 18.9 age range 4-39yo, were uploaded. Automated face analysis was conducted by using the technology used in proprietary software tools called Face2Gene CLINIC and Face2Gene RESEARCH (version 17.6.2). To estimate the statistical power of the Face2Gene technology in distinguishing affected individuals from controls, a cross validation scheme was used. RESULTS: The similarity seen in the upper facial region (of males and females) is greater than the similarity seen in other parts of the face. Binary comparison of subjects with FXS versus non-FXS and subjects with FXS versus subjects with Down syndrome reveal an area under the curve values of 0.955 (p = 0.002) and 0.986 (p = 0.003). CONCLUSION: The Face2Gene algorithm is separating well between FXS and Non-FXS subjects

Case Report Meningocele in a Congolese Female with Beckwith-Wiedemann Phenotype

Beckwith-Wiedemann syndrome (BWS) is a rare congenital syndrome characterized by an overgrowth, macroglossia, exomphalos, and predisposition to embryonal tumors. Central nervous abnormalities associated with BWS are rare. We describe a one-day-old Congolese female who presented meningocele associated with BWS phenotype

Agnathia otocephaly: A case from the Katanga Copperbelt

BACKGROUND: Agnathia otocephaly is a rare craniofacial malformation complex characterised by absent/hypoplastic mandible, abnormally positioned ears meeting at level of neck. Besides mutations in two genes, PRRX1 and OTX2, a teratogenic cause has been suggested. A higher risk of congenital malformations has been associated with paternal work in mining in the Democratic Republic of the Congo's part of the Copperbelt. CASE: We studied a female neonate with a clinical diagnosis of agnathia otocephaly, stillborn in Lubumbashi in 2019. The child's father had been working as an artisanal mineworker at the time of conception. RESULTS: Genetic analysis did not reveal a causal mutation. The concentrations of cobalt, arsenic cadmium, and uranium in cord blood of the infant were much higher than those of normal neonates from a previous study. CONCLUSION: In the absence of identified genetic causes, we hypothesize this case of agnathia otocephaly was related to an exogenous cause, possibly the father's mining-related job.status: publishe

Meningocele in a congolese female with beckwith-wiedemann phenotype

Beckwith-Wiedemann syndrome (BWS) is a rare congenital syndrome characterized by an overgrowth, macroglossia, exomphalos, and predisposition to embryonal tumors. Central nervous abnormalities associated with BWS are rare. We describe a one-day-old Congolese female who presented meningocele associated with BWS phenotype.status: publishe

Meningocele in a congolese female with beckwith-wiedemann phenotype.

Beckwith-Wiedemann syndrome (BWS) is a rare congenital syndrome characterized by an overgrowth, macroglossia, exomphalos, and predisposition to embryonal tumors. Central nervous abnormalities associated with BWS are rare. We describe a one-day-old Congolese female who presented meningocele associated with BWS phenotype