Esophageal achalasia in an adolescent in Central Africa: a case report

Esophageal Achalasia has rarely been reported in sub-Saharan Africa. We report a case of a 12 years old boy who has been diagnosed after experiencing dysphagia for a year and progressive wasting. Esophagogram was the only exploration available in our settings and showed classical features. He underwent a Heller esophago-cardiomyotomy with Toupet fundoplication. Postoperative period was unremarkable and BMI normalized for age and sex on the sixth postoperative month. In low settings, history is a key step which lead to clinical suspicion as esophagogram is often the only available exploration to confirm the diagnosis

Publications de chirurgie orale et maxillo-faciale dans les pays à ressources limitées en Afrique sub-saharienne : revue de la littérature.

Objective: To determine the subjects and content of publications produced by oral and maxillofacial surgeons practicing daily in less resourced countries in sub-Saharan Africa (SSA).  Materials and methods: We used two databases, PubMed and African online journals, for this literature review. We limited our research to the years 2000-2022. We have chosen the articles with the abstract and only in English or French. For each article we looked for the country of origin, the language of the article, the accessibility of the articles; the name of the newspaper, the number and type of illustrations. For each open access article, we looked for the method of payment for publication and the assignment of copyright. We found 1761 articles and finally retained 47 articles. Results: Publications from SSA countries are very rare among all publications from the African continent (47/1761= 2.6%). All selected articles were published in 33 different newspapers. 46.8% of articles were written by authors from Tanzania and Sudan. Open access articles represent the majority of published articles (59%). Closed access articles are related to Noma and articles in French. We identified only two scientific journals, African Health Sciences and South Sudan Medical Journal, which were free to readers and authors. The English language was predominant (85%). 53 images were freely accessible to illustrate all the subjects of oral and maxillofacial surgery in SSA countries. We also presented the conclusions of the articles by classifying them by subject: 1) Tumors (13 articles), 2) Traumas/maxillofacial fractures (11 articles), 3) Clefts (4 articles), 4) Infectious diseases (5 articles), 5) Cultural practices (4 articles), 6) Noma (2 articles), 7) Syndromes (5 articles), and miscellaneous subjects (3 articles). Conclusions: We presented the system of current scientific publications, the place of scientific publications and the particular aspects of publications on maxillofacial surgery in SSA countries, we proposed possible directions of publication for authors maxillofacial surgeons in SSA countries, as well as the potential place of the journal Nemesis in this African context.Objectif: Déterminer quels étaient les sujets et le contenu des publications réalisées par des chirurgiens oro-et maxillo-faciaux pratiquant quotidiennement dans les pays à moindre ressources d’Afrique sub-saharienne (ASS). Matériel et méthodes: Nous avons utilisé deux bases de données, PubMed et African online journals, pour cette revue de littérature. Nous avons limité notre recherche aux années 2000-2022. Nous avons choisi les articles avec le résumé et uniquement en langue anglaise ou française. Pour chaque article nous avons cherché le pays d’origine, la langue de l’article, l’accessibilité des articles ; le nom du journal, le nombre et le type d’illustrations. Pour chaque article en accès libre, nous avons cherché le mode de payement de la publication et la cession les droits d’auteur. Nous avons trouvé 1761 articles et retenu finalement 47 articles.  Résultats: Les publications issues des pays ASS sont très rares parmi toutes les publications du continent africain (47/1761= 2,6%). Tous les articles retenus étaient publiés dans 33 journaux différents. 46,8% des articles ont été écrits par les auteurs de Tanzanie et de Soudan. Les articles en accès libre représentent la majorité des articles publiés (59%). Les articles en accès fermé sont liés au Noma et aux articles en langue française. Nous avons identifié uniquement deux journaux scientifiques African Health Sciences et South Sudan Medical Journal, qui étaient gratuits pour les lecteurs et les auteurs. La langue anglaise était prédominante (85%). 53 images étaient accessibles gratuitement pour illustrer l’ensemble des sujets de la chirurgie orale et maxillo-faciale dans les pays ASS. Nous avons également présenté les conclusions des articles en les classant par sujets : 1) Tumeurs (13 articles), 2) Traumatismes/fractures maxillo-faciales (11 articles), 3) Fentes (4 articles), 4) Pathologies infectieuses (5 articles), 5) Pratiques culturelles (4 articles), 6) Noma (2 articles), 7) Syndromes (5 articles), et les sujets divers (3 articles). Conclusions: Nous avons présenté le système de publications scientifiques actuelles, la place des publications scientifiques et les aspects particuliers des publications sur la chirurgie maxillofaciale dans les pays ASS, nous avons proposé de possibles directions de publication pour les auteurs chirurgiens maxillo-faciaux des pays ASS, ainsi que la place potentielle de la revue Nemesis dans ce contexte africain

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

Publications de chirurgie orale et maxillo-faciale dans les pays à ressources limitées en Afrique sub-saharienne : revue de la littérature

Objectif: Déterminer quels étaient les sujets et le contenu des publications réalisées par des chirurgiens oro-et maxillo-faciaux pratiquant quotidiennement dans les pays à moindre ressources d’Afrique sub-saharienne (ASS). Matériel et méthodes: Nous avons utilisé deux bases de données, PubMed et African online journals, pour cette revue de littérature. Nous avons limité notre recherche aux années 2000-2022. Nous avons choisi les articles avec le résumé et uniquement en langue anglaise ou française. Pour chaque article nous avons cherché le pays d’origine, la langue de l’article, l’accessibilité des articles ; le nom du journal, le nombre et le type d’illustrations. Pour chaque article en accès libre, nous avons cherché le mode de payement de la publication et la cession les droits d’auteur. Nous avons trouvé 1761 articles et retenu finalement 47 articles. Résultats: Les publications issues des pays ASS sont très rares parmi toutes les publications du continent africain (47/1761= 2,6%). Tous les articles retenus étaient publiés dans 33 journaux différents. 46,8% des articles ont été écrits par les auteurs de Tanzanie et de Soudan. Les articles en accès libre représentent la majorité des articles publiés (59%). Les articles en accès fermé sont liés au Noma et aux articles en langue française. Nous avons identifié uniquement deux journaux scientifiques African Health Sciences et South Sudan Medical Journal, qui étaient gratuits pour les lecteurs et les auteurs. La langue anglaise était prédominante (85%). 53 images étaient accessibles gratuitement pour illustrer l’ensemble des sujets de la chirurgie orale et maxillo-faciale dans les pays ASS. Nous avons également présenté les conclusions des articles en les classant par sujets : 1) Tumeurs (13 articles), 2) Traumatismes/fractures maxillo-faciales (11 articles), 3) Fentes (4 articles), 4) Pathologies infectieuses (5 articles), 5) Pratiques culturelles (4 articles), 6) Noma (2 articles), 7) Syndromes (5 articles), et les sujets divers (3 articles). Conclusions: Nous avons présenté le système de publications scientifiques actuelles, la place des publications scientifiques et les aspects particuliers des publications sur la chirurgie maxillofaciale dans les pays ASS, nous avons proposé de possibles directions de publication pour les auteurs chirurgiens maxillo-faciaux des pays ASS, ainsi que la place potentielle de la revue Nemesis dans ce contexte africain.Objective: To determine the subjects and content of publications produced by oral and maxillofacial surgeons practicing daily in less resourced countries in sub-Saharan Africa (SSA).  Materials and methods: We used two databases, PubMed and African online journals, for this literature review. We limited our research to the years 2000-2022. We have chosen the articles with the abstract and only in English or French. For each article we looked for the country of origin, the language of the article, the accessibility of the articles; the name of the newspaper, the number and type of illustrations. For each open access article, we looked for the method of payment for publication and the assignment of copyright. We found 1761 articles and finally retained 47 articles. Results: Publications from SSA countries are very rare among all publications from the African continent (47/1761= 2.6%). All selected articles were published in 33 different newspapers. 46.8% of articles were written by authors from Tanzania and Sudan. Open access articles represent the majority of published articles (59%). Closed access articles are related to Noma and articles in French. We identified only two scientific journals, African Health Sciences and South Sudan Medical Journal, which were free to readers and authors. The English language was predominant (85%). 53 images were freely accessible to illustrate all the subjects of oral and maxillofacial surgery in SSA countries. We also presented the conclusions of the articles by classifying them by subject: 1) Tumors (13 articles), 2) Traumas/maxillofacial fractures (11 articles), 3) Clefts (4 articles), 4) Infectious diseases (5 articles), 5) Cultural practices (4 articles), 6) Noma (2 articles), 7) Syndromes (5 articles), and miscellaneous subjects (3 articles). Conclusions: We presented the system of current scientific publications, the place of scientific publications and the particular aspects of publications on maxillofacial surgery in SSA countries, we proposed possible directions of publication for authors maxillofacial surgeons in SSA countries, as well as the potential place of the journal Nemesis in this African context

Anthropometric and aesthetic outcomes for the nasolabial region in 101 consecutive African children with unilateral cleft lip one year after repair using the anatomical subunit approximation technique.

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

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. 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.publisher: Elsevier articletitle: Mirror-image gastroschisis in monochorionic female twins journaltitle: European Journal of Medical Genetics articlelink: http://dx.doi.org/10.1016/j.ejmg.2015.03.001 content_type: article copyright: Copyright © 2015 Elsevier Masson SAS. All rights reserved.status: publishe

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. 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

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.status: publishe

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