Autosomal dominant polycystic kidney disease in University Clinic of Nephrology and Haemodialysis of Cotonou: clinical and genetical findings.

Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disease, but poorly studied in Africa. Its frequency in the University Clinic of Nephrology and Hemodialysis of Cotonou during the ten last years was 7 cases per year with a hospital prevalence estimated at 18 per 1000. The mean age of patients was 47.2 years extending from 29 to 70 years. Males were predominant with a sex ratio of 1.13. Family history was found in 47% of patients. The most common manifestations were lumbar pain (62%), high blood pressure (59%) urinary tract infections (53%), hematuria (46%), and abdominal masses (43%). Hepatic cysts were the most extra renal manifestations, found in 34% of cases. Renal failure was observed in 72% of patients of our series, six of them were under dialysis. Direct sequencing of polycystin 1 gene enabled us to identify some new mutations: 4 nonsense mutations (p.Q2824X exon 23, p.Q1651X exon 15, p.W1666X exon 15, p.R966W exon 12), a duplication (c_1761.1745 dup exon 9), a deletion (c.9397 + 1_9397 + 8del intron 26) and a deletion-insertion (c.7290_7291delins CTGCA exon 18).

Femoral hypoplasia-unusual facies syndrome in a black African infant.

The femoral hypoplasia-unusual facies syndrome is a very rare association of femora and facial abnormalities. The most common features include hypoplasia of the femora and a characteristic facies with a short nose, long philtrum, thin upper lip and micrognathia. Maternal diabetes mellitus has been mainly identified as the causal agent. We reported the first case in a black African and discuss prenatal diagnosis and aetiology.

Femoral bifurcation associated with tibial aplasia: about 3 cases.

Femoral bifurcation associated with tibial aplasia of the limb is a very rare pathology. Its radical treatment is a disarticulation of the knee, followed by fitting of a prosthesis. In Benin the reluctance of parents to allow their children to undergo amputation and the access to equipment for the amputated child are a major technical and financial hindrance. Here we report three cases.

The Incursion and Spread of Highly Pathogenic Avian Influenza H5N8 Clade 2.3.4.4 Within South Africa.

The report of a mass die-off of white-winged terns (Chlidonias leucopterus) along the shores of Lake Victoria in Uganda in January 2017 was a warning that highly pathogenic avian influenza (HPAI) H5N8 clade 2.3.4.4 had entered the avian populations of the African Rift Valley. In early June 2017, Zimbabwe reported an outbreak of the virus in commercial breeder chickens near Harare, and on June 19, 2017, the first case of HPAI H5N8 was confirmed in a broiler breeder operation near Villiers, Mpumalanga Province, South Africa, representing the first ever notifiable influenza in gallinaceous poultry in South Africa. Forty viruses were isolated from wild birds, backyard hobby fowl, zoo collections, commercial chickens, and commercial ostriches over the course of the outbreak and full genomes were sequenced and compared to determine the epidemiologic events in the introduction and spread of clade 2.3.4.4 H5N8 across the country. We found that multiple virus variants were involved in the primary outbreaks in the north-central regions of South Africa, but that a single variant affected the southernmost regions of the continent. By November 2017 only two of the nine provinces in South Africa remained unaffected, and the layer chicken industry in Western Cape Province was all but decimated. Two distinct variants, suggesting independent introductions, were responsible for the first two index cases and were not directly related to the virus involved in the Zimbabwe outbreak. The role of wild birds in the incursion and spread was demonstrated by shared recent common ancestors with H5N8 viruses from West Africa and earlier South African aquatic bird low pathogenicity avian influenza viruses. Improved wild bird surveillance will play a more critical role in the future as an early warning system.

Incursión y propagación del virus de la influenza aviar altamente patógena H5N8 clado 2.3.4.4 en Sudáfrica. El informe de una muerte masiva de fumareles aliblancos (Chlidonias leucopterus) a lo largo de las orillas del lago Victoria en Uganda en enero del 2017 fue una advertencia de que la influenza aviar de alta patogenicidad (HPAI) H5N8, clado 2.3.4.4 había ingresado en las poblaciones de aves del Valle del Rift Africano. A principios de junio del 2017, Zimbabwe reportó un brote del virus en pollos reproductores comerciales cerca de Harare, y el 19 de junio del 2017, el primer caso de influenza aviar de alta patogenicidad H5N8 se confirmó en una operación de pollos de engorde en la provincia de Mpumalanga cerca de Villiers, Sudáfrica, que representa el primer caso de influenza notificable en aves gallináceas en Sudáfrica. Se aislaron cuarenta virus de aves silvestres, aves de traspatio, colecciones de zoológicos, pollos comerciales y avestruces comerciales durante el transcurso del brote. Se secuenciaron los genomas completos y se compararon para determinar los eventos epidemiológicos en la introducción y propagación del subtipo H5N8 clado 2.3.4.4 a través del país. Se encontró que múltiples variantes del virus estaban involucradas en los brotes primarios en las regiones centro y norte de Sudáfrica, pero que una sola variante afectaba a las regiones más al sur del continente. En noviembre de 2017, solo dos de las nueve provincias de Sudáfrica permanecían sin afectarse y la industria de pollos en la Provincia de Cabo Occidental resultó casi diezmada. Dos variantes distintas, que sugieren introducciones independientes, fueron responsables de los dos primeros casos índices y no estuvieron directamente relacionados con el virus involucrado en el brote de Zimbabwe. El papel de las aves silvestres en la incursión y diseminación fue demostrado por los ancestros comunes compartidos con los virus H5N8 de África Occidental y los virus de la influenza aviar de baja patogenicidad de aves acuáticas de Sudáfrica detectados anteriormente. La mejora de la vigilancia de aves silvestres jugará un papel más crítico en el futuro como un sistema de alerta temprana.

Influence of FCGR3A-V212F and TNFRSF1B-M196R genotypes in patients with rheumatoid arthritis treated with infliximab therapy.

OBJECTIVE: Anti-TNF-alpha therapies are widely used in rheumatoid arthritis (RA) patients. Despite their clearly proven efficacy, some discrepancies were observed in the treatment response with 40% of non-responder patients. The aim of this study is to determine whether two functional single-nucleotide polymorphisms, V212F in the FCGR3A, and M196R in the TNFRSF1B genes correlate with rheumatoid arthritis susceptibility and response to anti-TNF-alpha therapy. METHODS: The population study was composed of a French cohort of 78 RA patients and 70 healthy controls. Allele and genotype frequencies were compared between patients and controls, according to their response to infliximab therapy, using the American College of Rheumatology (ACR) response criteria. RESULTS: No association was found between these two SNPs and RA susceptibility. A significant correlation was found between 196R allele carriers and low response to infliximab therapy. CONCLUSION: This is the first report of a statistically significant association between the TNFRSF1B-M196R SNP and response to infliximab in a French cohort. Larger studies are needed to confirm the relevance of this association.

Toxicity and gastric tolerance of essential oils from Cymbopogon citratus, Ocimum gratissimum and Ocimum basilicum in Wistar rats.

Oils of Cymbopogon citratus, Ocimum gratissimum and Ocimum basilicum are widely used for their medicinal properties, and as food flavours and perfumes. Recently in a study in West Africa, these oils have been recommended to combat Fusarium verticillioides and subsequent fumonisin contamination in stored maize, but their toxicological profile was not investigated. The current study was undertaken to provide data on acute and subacute toxicity as well as on gastric tolerance of these oils in rat. For this purpose, the oils were given by gavage to Wistar rats for 14 consecutive days. The animals were observed daily for their general behaviour and survival, and their visceral organs such as stomach and liver were taken after sacrifice for histological analyses. A dose-dependent effect of the tested oils was observed during the study. Applied at doses generally higher than 1500 mg/kg body weight, the oils caused significant functional damages to stomach and liver of rat. Unlike the other oils, administration of O. gratissimum oil did not result in adverse effects in rat liver at the tested doses. The no observed adverse effect level (NOAEL) of the tested oils has been established. The three tested oils can be considered as safe to human when applied on stored maize at recommended concentrations.

Tumoral calcinosis due to GALNT3 C.516-2A >T mutation in a black African family.

Familial Tumoral Calcinosis (FTC) is a rare autosomal recessive disorder of the phosphocalcic metabolism caused by mutations in the FGF23 or GALNT3 genes. We have identified a Beninese family in which two brothers present FTC caused by a homozygous A>T transversion at the acceptor splice site in intron 1 of GALNT3 gene. We report on the clinical, biochemical, histopathological and molecular spectrum of the disorder in this family. The particularly severe phenotype, the amelogenesis imperfecta, and the carbapatite deposit observed in these patients, seem to be characteristic of our observations.

Wolf Hirshhorn syndrome in a case of ring chromosome 4: phenotype and molecular cytogenetic findings.

Ring chromosome 4 associates concomitant loss of the telomeric 4p and 4q regions and leads to variable clinical manifestations depending on the size of the deleted chromosomal material. We report on a patient with ring chromosome 4, showing the Wolf-Hirshhorn Syndrome (WHS) phenotype and minor symptoms of distal 4q deletion syndrome; the severity of the signs of WHS masks the symptomatology of the 4q deletion syndrome. The absence of seizures despite the absence of the specific 4p16.3 region with haploinsufficiency of the LETM1 gene is striking. The double telomeric deletion due to the ring chromosome formation confirmed by FISH has been rarely described in WHS.

[Apert's syndrome: a case report]. / Le syndrome d'Apert: à propos d'une observation.

Apert's syndrome is a type of acrocephalosyndactylia that is from part of the great group of craniofacial synostoses. It is characterized by craniofacial dysmorphia and syndactylia on hands and feet, which differentiates it from Crouzon's disease. It is a rare affection that is often transmitted through an autosome dominant mode, but sporadic cases exist. We report the case of a 15-year-old girl who presented characteristic clinical signs of Apert's syndrome with normal karyotype without parental consanguinity. The Ser 252 Trp mutation of the FGFR2 gene was found, confirming the molecular diagnosis. This study illustrates the severity of ocular and neurological problems of untreated Apert's syndrome. The presence of hemoglobinopathy (Hb AS) is also a mark of its originality.

Blepharophimosis, ptosis, epicanthus inversus syndrome with translocation and deletion at chromosome 3q23 in a black African female.

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal dominant disorder whose main features are the abnormal shape, position and alignment of the eyelids. Type I refers to BPES with female infertility from premature ovarian failure while type II is limited to the ocular features. A causative gene, FOXL2, has been localized to 3q23. We report a black female who carried a de novo chromosomal translocation and 3.13 Mb deletion at 3q23, 1.2 Mb 5' to FOXL2. This suggests the presence of distant cis regulatory elements at the extended FOXL2 locus. In spite of 21 protein coding genes in the 3.13 Mb deleted segment, the patient had no other malformation and a strictly normal psychomotor development at age 2.5 years. Our observation confirms panethnicity of BPES and adds to the knowledge of the complex cis regulation of human FOXL2 gene expression.