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Background: Thousands of artisanal workers are exposed to mineral dusts from various origins in the African Copperbelt. We determined the prevalence of respiratory symptoms, pulmonary function, and urinary metals among artisanal stone-crushers in Lubumbashi., Methods: We conducted a cross-sectional study of 48 male artisanal stone-crushers and 50 male taxi-drivers using a standardized questionnaire and spirometry. Concentrations of trace metals were measured by Inductively Coupled - Plasma Mass Spectrometry (ICP-MS) in urine spot samples., Results: Urinary Co, Ni, As, and Se were higher in stone-crushers than in control participants. Wheezing was more prevalent ( p = 0.021) among stone-crushers (23%) than among taxi-drivers (6%). In multiple logistic regression analysis, the job of a stone-crusher was associated to wheezing (adjusted Odds Ratio 4.45, 95% Confidence Interval 1.09-18.24). Stone-crushers had higher values (% predicted) than taxi-drivers for Forced Vital Capacity (105.4 ± 15.9 vs. 92.2 ± 17.8, p = 0.048), Forced Expiratory Volume in 1 Second (104.4 ± 13.7 vs. 88.0 ± 19.6, p = 0.052), and Maximum Expiratory Flow at 25% of the Forced Vital Capacity (79.0.1 ± 20.7 vs. 55.7 ± 30.1, p = 0.078)., Conclusion: Stone-crushers were more heavily exposed to mineral dust and various trace elements than taxi-drivers, and they had a fourfold increased risk of reporting wheezing, but they did not have evidence of more respiratory impairment than taxi-drivers.

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., (© 2020 Wiley Periodicals LLC.)

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., Funding: Flemish Interuniversity Council-University Development Cooperation, The Coalition of the North-South movement in Flanders 11.11.11., (Copyright © 2020 The Author(s). Published by Elsevier Ltd. This is an Open Access article under the CC BY-NC-ND 4.0 license. Published by Elsevier Ltd.. All rights reserved.)

Microdeletion of the entire interferon regulatory factory 6 (IRF 6) gene is a rare cause of Van der Woude syndrome (VDW) with only few cases reported in medical literature. Its occurrence in multiple affected members of a family is exceptional. The aim of this presentation was to describe a Central African family with typical VDW phenotype carrying an IRF6 gene deletion. Here we reported phenotype features of members of a Central African family with VDW syndrome consisting of labioalveolar cleft, depressions of the lower lip with labial fistulae (lip pits), submucosal clefts and cleft palate. Mutation analysis by means of multiplex ligation-dependent probe amplification and chromosomal microarray revealed a 374.070 kb, deletion encompassing the entire IRF6 gene in four affected family members. Microdeletion of the entire IRF6 gene causes the classical VDW syndrome phenotype.

Purpose: To determine the incidence and risk factors of occurrence of non-syndromic cleft lip and/or cleft palate (NSCLP) in Lubumbashi., Method: A case-control study was conducted in the health district of Lubumbashi from February 2012 to December 2015. An exhaustive sampling, collecting all newborns with cleft lip and/or cleft palate (CL ± P) in maternity wards was conducted. From a total of 172 cases, 162 non-syndromic cases were recruited. For each case, one clinically normal newborn control was selected., Results: NSCLP had an incidence of 1/1258 live births (0.8/1000). We found significant associations with a family history of cleft lip and palate (CLP) (x 2 family history  = 11.5, p = 0.0007), maternal alcohol intake (OR = 19.3, 95% CI: 1.9-197.1), paternal alcohol during the periconceptional period and the first trimester of pregnancy (OR = 18.7, 95% CI: 3.9-89.2), maternal educational level lower than high school (OR = 9.5, 95% CI: 2.0-44.7), clay (Pemba) consumption during pregnancy (OR = 38.3, 95% CI: 9.3-157.0), the use of insecticides in the evening (OR = 130.3, 95% CI: 13.2-1286.9), indoor cooking with charcoal (Makala) (OR = 6.5, 95% CI: 1.22-34.5), and regular consumption of Kapolowe fish, supposedly contaminated with heavy metals (OR = 29.5, 95% CI: 7.4-116.7)., Conclusion: Several environmental risk factors highly prevalent in Central Africa for facial clefting were found., (Copyright © 2018 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.)

One hundred and one patients with complete or incomplete cleft lip underwent the anatomical subunit approximation technique for repair. The patients were followed up prospectively for 1year. The objective of this study was to determine the outcomes for the nasolabial area through anthropometric measurements and assessment of the Asher-McDade Aesthetic Index and Steffensen's criteria at 1year after surgery. Six assessors (three cleft surgeons and three non-surgeon medical professionals) examined cropped images; reliability was assessed using Cronbach's alpha. The difference in lip length between the healthy and operated sides was 0.61mm and the difference in nostril diameter was 0.37mm (differences not significant). The average scar width was 2.78±1.35mm. Hypertrophic scars were observed in 9.9% of cases. The average Asher-McDade Aesthetic Index rating varied between 1.35 and 1.98 for all parameters. Cronbach's alpha coefficient was 0.83, 0.89, 0.98, and 0.89 for nasal form, nasal symmetry, vermilion border, and nasolabial profile, respectively. Steffensen's criteria rated appearance as 'good' in 69.3% to 91.1% of cases. The anatomical subunit approximation technique can be performed in Sub-Saharan Africans for all types of unilateral cleft lip. It significantly improves the length of the medial and lateral lips, leaving an acceptable scar. A study with a larger sample size and longer follow-up is warranted., (Copyright © 2017 International Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.)

The evaluation of facial dysmorphism is a critical step toward reaching a diagnostic. The aim of the present study was to evaluate the ability to interpret facial morphology in African children with intellectual disability (ID). First, 10 experienced clinicians (five from Africa and five from Europe) rated gestalt in 127 African non-Down Syndrome (non-DS) patients using either the score 2 for 'clearly dysmorphic', 0 for 'clearly non dysmorphic' or 1 for 'uncertain'. The inter-rater agreement was determined using kappa coefficient. There was only fair agreement between African and European raters (kappa-coefficient = 0.29). Second, we applied the FDNA Face2Gene solution to assess Down Syndrome (DS) faces. Initially, Face2Gene showed a better recognition rate for DS in Caucasian (80%) compared to African (36.8%). We trained the Face2Gene with a set of African DS and non-DS photographs. Interestingly, the recognition in African increased to 94.7%. Thus, training improved the sensitivity of Face2Gene. Our data suggest that human based evaluation is influenced by ethnic background of the evaluator. In addition, computer based evaluation indicates that the ethnic of the patient also influences the evaluation and that training may increase the detection specificity for a particular ethnic., (© 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

We report a case of "mirror-image" gastroschisis in female monochorionic twins. One of the twins presents a right-sided gastroschisis, the other a left-sided gastroschisis. Both twins have anteriorly placed anus and sacral dimple. To the best of our knowledge, this represents the first case of mirror image or discordant left and right gastroschisis in monochorionic twins reported in the literature. This observation may shed further light on the pathogenesis of gastroschisis., (Copyright © 2015 Elsevier Masson SAS. All rights reserved.)

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.

Trisomy 13 is a chromosomal disorder characterized by a severe clinical picture of multiple congenital anomalies. We here describe the clinical and genetic features and prognosis observed in a newborn with trisomy 13 from Central Africa. He presented the rare feature of preaxial polydactyly of the feet.