Strengthening human genetics research in Africa: report of the 9th meeting of the African Society of Human Genetics in Dakar in May 2016.

The 9th meeting of the African Society of Human Genetics, in partnership with the Senegalese Cancer Research and Study Group and the Human Heredity and Health in Africa (H3Africa) Consortium, was held in Dakar, Senegal. The theme was Strengthening Human Genetics Research in Africa. The 210 delegates came from 21 African countries and from France, Switzerland, UK, UAE, Canada and the USA. The goal was to highlight genetic and genomic science across the African continent with the ultimate goal of improving the health of Africans and those across the globe, and to promote the careers of young African scientists in the field. A session on the sustainability of genomic research in Africa brought to light innovative and practical approaches to supporting research in resource-limited settings and the importance of promoting genetics in academic, research funding, governmental and private sectors. This meeting led to the formation of the Senegalese Society for Human Genetics.

Le 9ème congrès de la Société Africaine de Génétique Humaine, en partenariat avec le Groupe d'Etude et de Recherche sur le Cancer (GERC) et le Consortium H3Africa, s'est tenu à Dakar, au Sénégal. Le thème était «Renforcer la recherche en Génétique Humaine en Afrique¼. Les 210 participants sont venus de 21 pays africains et de six non africains. L'objectif était de valoriser la génétique et la génomique à travers l'Afrique avec comme but ultime d'améliorer la santé des populations, et de promouvoir les carrières des jeunes chercheurs Africains. Une session sur la pérennité de la recherche génomique a révélé des approches innovantes et pratiques supportant la recherche dans des contextes de ressources limitées et l'importance de promouvoir la formation universitaire en génétique, le financement de la recherche par les gouvernements et le privé. Ce congrès conduisit à la création de la Société Sénégalaise de Génétique Humaine.

Hepatitis B, C seroprevalence and delta viruses in HIV-1 Senegalese patients at HAART initiation (retrospective study).

The aim of this study was to determine hepatitis co-infection in a cohort of HIV infected patients at their inclusion in the Senegalese Initiative of ART Access. B, C, and D Hepatitis viruses serological markers were checked retrospectively on 363 stored plasma. For HBV, the Abbott laboratories equipment IMx was used to detect HBs Ag and anti Core Ab on negative HBs Ag samples. For HDV, anti Delta Ab was performed using the Abbott Murex Kit on all HBs Ag positive samples. For HCV, anti HCV Ab was detected by IMx as double screening test and confirmed by INNO-LIA(TM) HCV Core of Innogenetics laboratories. The statistical analysis was done with STATA V8. The study population was composed of 164 men and 199 women aged between 16 and 66 years. The immune and virological markers averages at their enrollment were 154 cell/mm(3) for TLCD4+ (n = 355 patients) and 4.9 log for viral load (n = 277 patients). HBs Ag was found in 61 patients or 16.8% and the prevalence of anti-HBc Ab was 83.2% (252/295). 2 patients or 3% on HBs Ag positive sample presents HBV/HDV co-infection Ab anti HCV was detects in 6 patients or 1.6% after confirmation and 2 patients had triple infection with HBV. These results showed that the prevalence of HBV and HCV in the population of persons living with HIV/AIDS in Senegal is similar to that found in the general population. Our data indicated that hepatitis pathology in the PLwHIV was essentially due to HBV. Further studies are needed to diagnose occult hepatitis in order to set up therapeutic strategies taking into account co-infections by hepatitis viruses in the ART programmes.

[Interference of hemolysis on haptoglobin determined by kinetic immunonephelometry and comparison between phenotypes]. / Interférence de l'hémolyse sur la détermination de l'haptoglobine en immunonéphélémétrie cinétique et comparaison selon les phénotypes.

The aim of the study was to check if a slight and non visible hemolysis to naked eye such as that induced by blood coagulation could interfere in the immunonephelometric measurement of haptoglobin, and if this interference was dependent on the protein phenotype. Results confirmed that blood coagulation induced a non visible hemolysis whose intensity markedly varied from one specimen to another. Under our conditions (kinetic measurement with a Beckman Coulter immunonephelometer), we observed with the sera a negative interference linked to the hemolysis induced by blood coagulation when compared to corresponding plasmas obtained with lithium heparinate (p < 0,005). It was checked also that this anticoagulant did not induce a positive interference. Hemolysis interference was not found phenotype dependent. These results lead us to recommend to perform haptoglobin measurements on heparinised plasmas.

[Transferrine soluble receptors' contribution to the assessment of iron status in homozygous drepanocytic anemia]. / Apport des récepteurs solubles de la transferrine dans l'évaluation du statut en fer au cours de la drépanocytose homozygote.

Sickle cell anemia does not cause martial deprivation per se, but may worsen when iron deficiency exists, notably in tropical zone where infectious diseases and malnutrition are endemic mainly during childhood. This study was aimed to assess iron deficiency prevalence among children with sickle cell disease (SCD) and to determine the best parameters for its diagnosis. In addition to classical parameters, we measured transferrine's soluble receptors which can reveal an iron deficiency, either isolated or associated to another condition since its level is not influenced by chronic anemia. Assays were carried out in 40 homozygous SCD patients, aged 3 to 18 years, having an hemoglobin level < 11 g/dL and in 30 age-paired controls assumed to be healthy and having a negative Emmel test and an hemoglobin level < 11 g/dL. The results showed hyposideremia (serum iron < 60 microg/dL) in 17.5% of the patients. Ferritinemia, transferrinemia as well as total iron fixation capacity were in the normal range for the majority of SCD patients in spite of the frequency of hyposideremia and microcytic anemia (20%). Transferrine's saturation coefficient was low in 22.5% of patients, which can be due to martial deprivation or to inflammatory status. These results confirm the limitations of usual biochemical parameters in the diagnosis of iron deficiency in homozygous drepanocytosis. Soluble receptors' levels were increased in 60% of controls; that proves that iron deficiency prevalence is high in our countries. Higher levels were found in 97.5% of patients. However, receptors' levels are increased during haemolysis, thus it is difficult to ascertain the origin of the increase, but taking into account its index value can reduces misinterpretation. In addition, considering simultaneously microcytosis, hypochromia, transferrine's soluble receptor level and its index, we can speculate that martial deficiency occurs in 20% of SCD patients, a percentage close to the 17.1% obtained by other authors using only the combination of microcytosis and hypochromia. It results from this study that associating microcytosis and hypochromia could validly assess iron deficiency during drepanocytosis.

[Cardiac pacing in West Africa: feasibility, problems, and perspectives]. / La stimulation cardiaque définitive en Afrique de l'Ouest: faisabilité, problèmes et perspectives.

BACKGROUND: The frequency of conductive trouble is not know in West-Africa where the evacuation to Europe and the cardiology institute of Abidjan has been for long time the only possibility to implant stimulators. We analyse our experience, the problems ant the perspectives. METHODS: Over a three year period 92 patients (47 men, 45 women) were implanted using new (47%) or a recycled pacemaker. The technique used was essentially endoveinous (sub-clavicular puncture) except 2 children. The medium length of treatment was 24 months. RESULTS: Syncope was noticed at the entrance in most 50% of cases. The degenerative etiology was dominant in 85%. Most cases (87%) used the VVI mode. Complications comprised 3 leads deplacements, 5 infections, 1 pacemaker syndrome and 1 death by mesenteria ischemia. Seven patients died later without any relation of cardiac pacing. CONCLUSION: Despite an intrinsically high cost, pacemaker implantation is feasible and useful in selected indications in developing countries.

[T-cell lymphoma-leukemia caused by HTLV-1 in adults: two lymphomatous forms]. / Leucémie-lymphome à cellules T de l'adulte due au HTLV-1: à propos de deux formes lymphomateuses.

The adult T-cells lymphoma-leukemia is a serious complication by the HTLV-1 infection. It is a rarely described diseases in Africa, in spite of the frequency of the infection by this virus. We report two clinical observations of lymphomatous forms. The first observation concerned a 43 year old Senegalese woman, admitted for a deep alteration of her general status and peripheral polyadenopathies. The adenopathy biopsy set up the diagnosis of pleiomorph T lymphoma with great and medium cells. The HTLV-1 serology was positive. She had benefited of six polychemotherapy cures (cyclophosphamide, farmarubicine, oncovin, prednisone) within which she died in a cachectic presentation. The second observation concerned a 44 year old Senegalese man, admitted for peripheral polyadenopathies, ulcerated lesions of sole of the foot, and deep alteration of the general status. He presented a moderate hypercalcemia by 117 mg/l. The histological examination of a ganglionar biopsy concluded to a diffuse T lymphoma with great cells. The HTLV-1 serology was positive. The cutaneous lesions were due to a phaeohyphomycosis of Exophiala jeanselmei. The symptomatic therapeutic measures had been applied and he died within four weeks in a septicemic clinical manifestation. The adult T-cells lymphoma leukemia due to the HTLV-1 ought to be researched before any lymphomatous and leucemic manifestation by T-cells through a serological research. The prognostic stays very bad.

[Frequency of microalbuminuria during diabetes in Dakar, Senegal]. / Fréquence de la microalbuminurie au cours du diabète a Dakar (Senegal).

Nephropathy is one of the complications occuring during diabetes and it is diagnosed via microalbuminuria. From 1992 to 1999, five hundred and eighty seven (587) diabetic patients were recruited and distributed into two groups, A (n = 270) and B (n = 317). Microalbuminuria was determined by immunonephelemetry for group A and immunoturbidimetry for group B. The results showed respectively 15.5% and 20.19% pathological cases in the two groups (NS). Considering the distribution of patients with microalbuminuria according to the type of diabetes, there were 16.12% type 1 and 15.07% type 2 in group A against 22.60% and 18.13% in group B; no statistically significant differences were observed either in the same group or from one group to another. These frequencies might reflect the situation in the nineties; they are lower than those encountered in other populations. Nevertheless monitoring is needed through a regular schedule to prevent nephropathy.

A simple clinical and paraclinical score predictive of CD4 cells counts below 400/mm3 in HIV-infected adults in Dakar University Hospital, Senegal.

In industrialized countries the decision to start co-trimoxazole (CMX) prophylaxis of HIV-related opportunistic infections is based on the CD4+ cell count. The value of CMX prophylaxis has also been demonstrated in Africa, where CD4+ cell counts are rarely available. We therefore developed a simple score predictive of a threshold CD4+ cell count (400/mm3) below which CMX prophylaxis is indicated. In a retrospective cross-sectional study, we collected clinical and biological data on 211 HIV-infected patients recruited from January 1996 through January 1998 at Fann University Hospital in Dakar, Senegal. Several variables were identified as being predictive of a CD4+ cell count below 400/mm3 by stepwise logistic regression. Each variable was weighted according to its regression coefficient, as follows: male sex (+1), weight loss (+2), body mass index < 22 (+2), herpes zoster (+4), tuberculin induration < 5 mm (+3) and haemoglobin < or = 10 g/dL (+1). A score of > or = 4 (sum of weights) selected patients with CD4+ cell counts below 400/mm3 with a sensitivity of 98% and a negative predictive value of 83%. Such a score should be applicable in the African context and should facilitate the management of HIV-infected patients, especially the prescription of CMX prophylaxis.

[Frequency of micoalbuminuria during diabetes in Dakar (Senegal)]. / Frequence de la microalbuminurie au cours du diabète à Dakar (Sénégal).

Nephropathy is one of the complications occuring during diabetes diagnosed via microalbuminuria. From 1992 to 1999, five hundred and eighty seven (587) diabetic patients were recruited in groups A (n = 270) and B (n=317). Microalbuminuria was determined by immunonepheletry for A and immunoturbidimetry for B. The results pointed out respectively 15.5% and 20.19% pathological cases (NS). Considering the distribution of patients with microalbuminuria according to the type of diabetes there were 16.12% type 1 and 15.07% type 2 in group A against 22.60% and 18.13% in group B ; no stastically significant differences were observed either in the same group or from one group to another. These frequencies would reflect the situation in the nineties; they are lower than those encountered in other populations. Nevertheless monitoring is needed through a regular schedule to prevent nephropathy.

[Study of the anti-icteric and hepatoprotective activity of Persea gratissima Gaertner (Lauraceae) seeds ]. / Etude des activités anti-ictérique et hépatoprotectrice des amandes de Persea gratissima Gaertner (Lauraceae).

The lyophilisat of Persea gratissima Gaertner almonds was administered in various quantities to eighty four rats divided in three groups of twenty eight. in the first group (negative reference group), each animal was forcefed with 5 ml of distilled water on a daily basis, in the second group (positive reference group), the rats were forcefed with 5 ml of distilled water per day, after they were intoxicated with 0,3 ml of carbon tetrachloride under cutaneous injection, in the third group (experimental animals), each animal after it was intoxicated by the same quantity of carbon tetrachloride, was forcefed on a daily basis with 14mg/100g PV of lyophilisat of avocado almonds diluted with 5 ml of distilled water. The results showed that the lyophilisat of avocado almonds have a anti-icteric activity which is reflected in the stimulation of the liver to conjugate and eliminate bilirubin, as well as hepatoprotective activity characterised by the normalisation of the aminotransferases enzymes (ASAT, ALAT) and the healing of hepatic lesions within 10 days.

Identification of all HIV type 1 group M subtypes in Senegal, a country with low and stable seroprevalence.

A total of 343 HIV-1-positive samples obtained between June 1996 and March 1999 was genetically characterized in the envelope region by HMA and/or sequencing. The env subtype distribution was as follows: 290 (84.6%) A, 22 (6.5%) B, 16 (4.7%) C, 8 (2.5%) D, 1 (0.03%) E, 1 (0.03%) F1, 4 (1.2%) G, and 1 (0.03%) H. For 77 samples the p24 region from the gag gene was also sequenced, and for 9 (11.6%) the subtypes between env and gag were different. Phylogenetic tree analysis showed the predominance of AG-IBNG-like viruses among gag and env subtype A sequences. HMA is relatively simple and requires less sophisticated technical facilities compared with sequencing, and in Senegal 323 (94.2%) of the 343 samples could be identified by this technique. However, in the actual configuration of the assay, discrimination between the recombinant AG-IBNG-like recombinant viruses, which are predominant in Senegal, and the nonrecombinant subtype A viruses is not possible.

[Adult T-cell leukemia-lymphoma due to HTLV 1. Two cases of the acute form at the Principal Hospital of Dakar]. / La leucémie-lymphome à cellules T de l'adulte liée au virus HTLV1. Apropos de 2 observations de formes aiguës à l'Hôpital Principal de Dakar.

HTLV1 virus is a retrovirus that has been endemic in Africa. It is the responsible for tropical spastic paraparesis and adult's T Cell leukemia-lymphoma. Few cases of adult T-Cell leukemia-lymphoma have been described in Africa, contrary to Japan and Caribbean. Were are reporting two cases of acute adult T-Cell leukemia-lymphoma which characterised by blood lymphoma signs, tumoral nodes and extranods lesions, hypercalcemia and positive retroviral serology of HTLV1 virus. The prognosis of these acute forms was bad after a six month survey approximately. The treatment is disappointing. Investigations of this affection must be carried out in every patient who presents lymphoma manifestations all the more because they are associated with hypercalcemia.

Le diabete du sujet age : a propos de 52 cas consecutifs

Les auteurs etudient a partir d'une population de diabetiques ages de 60 ans et plus (52 patients) les aspects vasculaires de la maladie. L'age avance etant un facteur de moindre tolerance glucosee avec hyperinsulinisme responsable des lesions vasculaires; le diabete du sujet age devrait etre marque par cette pathologie. De fait les complications vasculaires sont importantes et plus nombreuses que chez les sujets de moins de 60 ans. Observees apres cet age et donc bien apres l'emergence des complications de l'atherosclerose elles pourraient etre sous la dependance dominante du diabete. La microangiopathie diabetique est beaucoup plus frequente chez le sujet age (61 pour cent versus 33;3 pour cent). La retinopathie diabetique (29 pour cent versus 19;9 pour cent); reste classique. La macroangiopathie (maladie coronariennie; arterite des membres inferieurs) et la microangiopathie (nephropathie avec insuffisance renale) sont la marque essentielle du diabete du sujet age sous le couvert d'une hypertension arterille

[Etiopathogenic, ultrasonographic and prognostic features of postpartum cardiomyopathy]. / Particularités étiopathogéniques, échographiques et évolutives de la myocardiopathie du post-partum.

Peripartum cardiomyopathy is a classic but uncommon entity in African women about which there is little etiologic understanding. From January 1990 to March 1996 a series of 30 cases of peripartum cardiomyopathy was collected at the Principal Hospital in Dakar, Senegal. Peripartum cardiomyopathy was defined as the occurrence of cardiac insufficiency in a woman with no previous history of heart disease, during the period between the second and twentieth weeks after delivery confirmed by ultrasound evidence of dilated cardiomyopathy. The overall incidence of peripartum cardiomyopathy during the study period was 30 out of 1200 deliveries. The mean age of the women in the study was 34 years and mean parity was 5.2. In 13.3% of cases births involved twins. There were no predisposing socio-economic or climatic factors. The clinical picture was severe cardiac failure in 80.3% of cases and left ventricular insufficiency in 16.6%. In all cases ultrasound findings were typical of dilated cardiomyopathy. Serum selenium and vitamin B1 levels were normal. Measurements of T CD4 and CD8 in eight patients were normal. Conversion enzyme inhibitors were administered to twenty patients. Complete remission was achieved in 14 patients, three patients died, and thirteen patients presented ultrasonic evidence of persistent dilated cardiomyopathy. One patient relapsed after a subsequent delivery. These findings are in agreement with previous reports concerning the clinical and prognostic features of peripartum cardiomyopathy in Africa.

[Annulo-aortic ectasia syndrome apropos of 4 cases]. / La maladie annulo-ectasiante de l'aorte à propos de 4 cas.

The authors present four cases of annuloaortic ectasia recently observed in Dakar Principal Hospital; two cases are MARFAN's syndrome, one is complicated by aortic dissection. Third cause of aortic regurgitation, this disease must be diagnosed early on account of its bad prognosis with the risk of the dissection of the aorta and issue to cardiac insufficiency. The diagnosis is more often affirmed by transthoracic echocardiography. Treatment is surgical with low operative mortality and excellent long term result.