Transplacental transfer of cobalt: Evidence from a study of mothers and their neonates in the African Copperbelt.

Background: Transfer of the trace metal cobalt (Co) from mother to foetus has not been documented in populations with high environmental exposure to Co, as is the case in the African Copperbelt mining region. We analysed data obtained from 246 mother-infant pairs included (at delivery) in a previously published case-control study on birth defects, done in Lubumbashi (Democratic Republic of Congo) between March 1, 2013, and Feb 28, 2015.

Methods: Co was measured by Inductively Coupled Plasma Mass Spectrometry in maternal blood, maternal urine, umbilical cord blood and placental tissue, as available.

[Conservative treatment of giant omphaloceles with dissodic 2% aqueous eosin: a case serie].

Primary surgical closure for the treatment of giant omphalocele is punctuated by the onset of unpleasant complications. Conservative treatment is an option in low-income countries where neonatal resuscitation is associated with high mortality rates. We conducted a prospective study of patients admitted to the University Clinics of Lubumbashi between January and April 2020 and receiving conservative treatment based on dissodic 2% aqueous eosin according to a defined protocol.

Congenital segmental dilatation of the jejunum in an African child: a case report.

Congenital segmental dilatation of the intestine is a rare disease. It is rarely located in the jejunum and its etiology is still unknown despite many theories suggesting its mechanism. We report a case of a 17 months girl who experienced nonspecific symptoms (abdominal pain, constipation and loss of appetite) since early her infancy.

[Anorectal malformations: a 6-years review at the University Clinics of Lubumbashi].

Anorectal malformations (ARM) are developmental anomalies of the genitor anal elements, they represent a wide range of anomalies. An early diagnosis allows a better management as it reduces mortality associated with ARM, especially in developing countries. A prospective cross-sectional study has been carried, including patients from 0 to one year, admitted in our service for ARM.

Respiratory Health and Urinary Trace Metals among Artisanal Stone-Crushers: A Cross-Sectional Study in Lubumbashi, DR Congo.

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.

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.

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.

Microdeletion of the entire IRF6 gene in a Subsaharian African's family with Van der Woude syndrome.

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.

Non-syndromic cleft lip and/or cleft palate: Epidemiology and risk factors in Lubumbashi (DR Congo), a case-control study.

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.

Wolf-Hirschhorn Syndrome: Clinical and Genetic Data from a First Case Diagnosed in Central Africa.

Wolf-Hirschhorn syndrome (WHS) is a multiple congenital anomaly-intellectual disability syndrome caused by a deletion involving chromosome 4p16.3. We report clinical and genetic findings of the first WHS patient diagnosed in central Africa.

Mirror-image gastroschisis in monochorionic female twins.

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.

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.

Preaxial polydactyly of the foot: variable expression of trisomy 13 in a case from central Africa.

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.