PLoS One

Timely diagnosis of Pulmonary Tuberculosis (PTB) is associated with good prognosis, but remains difficult in primary healthcare facilities and particularly in children and patients living with HIV. The aim of this study was to compare the GeneXpert ® MTB/RIF assay (Xpert) performed using a stool sample (3-5 g) and using the first Respiratory Tract Sample (RTS; i.e., sputum, bronchoalveolar or gastric aspirate; as normally done) concomitantly collected from 119 patients with suspected PTB to improve PTB diagnosis in Burkina Faso, a high tuberculosis burden country with limited resources. Overall, microbiological, microscopic and molecular analysis of the 119 first RTS and 119 stool specimens led to Mycobacterium tuberculosis complex detection in 28 patients (23 positive RTS cultures and 5 negative RTS cultures-RTS Xpert positive). When using the 28 clinical confirmed cases as reference standard, the sensitivities of the stool-based and RTS-based Xpert assays were not different (24/28, 85.7%, versus 26/28, 92.86%; p > 0.30), and 22 results were fully concordant. Considering the first RTS culture as the gold standard, the sensitivities of the stool-based and RTS-based Xpert assays to detect PTB in patients with positive RTS culture were 100% (23/23) and 91.3% (21/23), respectively (p >0.05). The stool-based Xpert assay specificity for excluding PTB was 99% (95/96) (compared with 95%, 91/96, when using RTS) and its negative and positive predictive values were 100% (95/95) and 96% (23/24), respectively. Compared with the 23 positive RTS cultures, the incremental yield rates of the RTS-based and stool-based Xpert assays were 4.2% (5/119) and 0.84% (1/119), respectively. Overall, our findings support using the stool-based Xpert assay as an alternative method for earlier PTB diagnosis, when RTS are difficult to obtain

Contribution and acceptability of bacteriological collection tools in the diagnosis of tuberculosis in children infected with HIV

Objective: The objective of this study is to evaluate the feasibility and tolerability of new bacteriological samples to diagnose tuberculosis (TB) in HIV-infected children. Method and patients: HIV1-infected children with suspicion of TB in Universitary Hospital Souro Sanon (Burkina Faso) were included in a prospective cohort study. Children underwent three gastric aspirates (GA) if aged <4 years; two GA, one string test (ST) if aged 4-9 years and three sputum, one ST if aged 10-13 years. All children underwent one nasopharyngeal aspirate (NPA) and one stool sample. To assess feasibility and tolerability of procedures, adverse events were identified and pain was rated on different scales. Samples were tested by microscopy, culture, GeneXpert (R) (Xpert (R)). Results: Sixty-three patients were included. Mean age was 8.92 years, 52.38% were females. Ninety-five GA, 67 sputum, 62 NPA, 60 stool and 55 ST had been performed. During sampling, the main adverse events were cough at 68/95 GA and 48/62 NPA; sneeze at 50/95 GA and 38/62 NPA and vomiting at 4/55 ST. On the behavioral scale, the average pain score during collection was 6.38/10 for GA; 7.70/10 for NPA and 1.03/10 for ST. Of the 31 cases of TB, bacteriological confirmation was made in 12 patients. Conclusion: ST, stool is well-tolerated alternatives specimens for diagnosing TB in children. NPA has a poor feasibility and tolerability in children

The Seckel Syndrome: A Case Observed in the Pediatric Department of the University Hospital Center Sourou Sanou (Burkina Faso)

Seckel syndrome-1 or “bird-headed dwarfism”, Online Mendelian Inheritance in Man number 210600, is a rare genetic disease with an autosomal recessive transmission. We report a female child of 56 months diagnosed with SCKL1 at the Pediatric department of the University Hospital Center Sourou Sanou, Burkina Faso. She showed the typical features including facial dysmorphism, dwarfism, microcephalus and mental retardation. Ophthalmic and dental anomaly and extremities were associated. Without a codified etiological treatment, a psychotherapist support, a genetic counseling, a regular pediatric follow-up, a quarterly odontostomatological and ophthalmological follow- up have been recommended

Congenital vitiligo: A case observed in the cohort of HIV-exposed infants in Bobo-Dioulasso, Burkina Faso

Vitiligo is a dermatological disease; its exact prevalence is unknown among the paediatric population. We are reporting a case of vitiligo at birth for the first time in Burkina Faso, in the Teaching Hospital Souro Sanou of Bobo-Dioulasso, Paediatric Department. He is a male child, born from HIV-1 positive parents; we received him when he was 2 months to be followed in connection with the prevention of motherto- child transmission. He showed achromic lesions on the skin and on skin appendages at birth. In addition to congenital vitiligo we mentioned, several diagnostic hypotheses were discussed. No treatment was decided to face these skin lesions given the very young age of the patient. Psychological support is planned in the long run

Co-infection hépatite B et VIH: enquête de prévalence chez les femmes enceintes à Bobo Dioulasso, Burkina Faso

info:eu-repo/semantics/publishe

Diagnostic path of a genetic disease : a case of Williams-Beuren syndrome in Burkina Faso

Williams-Beuren syndrome (WBS) is a rare neurodevelopmental disorder characterized by a set of somatic, psychological, and behavioral abnormalities, which is caused by a deletion of several genes. Herein we report a 6 year-old boy, who presented with mental retardation and psychological disorders. The result of the first clinical examination was poor, since it didn’t detect any dysmorphic feature which is a major component for the clinical diagnosis of WBS. Despite the multidisciplinary and the multicenter approaches used, the diagnosis of WBS (deletion of chromosome band 7q11. 23) was established more than 3 years after the first medical consultation. Rare partial forms of WBS have been recently described and they are both clinically and genetically difficult to diagnose. Unfortunately, this disorder is still little known by health professionals

Apert Syndrome: Diagnostic and Management Problems in a Resource-Limited Country

Apert syndrome or acrocephalosyndactyly is a rare genetic disease characterized by craniofacial dysmorphism and syndactyly of the hands and feet. We report an observation in a 4-month-old female infant, whose father was 65 years old. The infant was admitted to the neonatology of Sourô Sanou University Hospital (Burkina Faso) for respiratory distress in a congenital malformation disorders context with the notion of resuscitation for 10 minutes at birth. Her clinical examination revealed a craniofacial dysmorphism, syndactyly, choanal atresia, a cleft palate and a retardation of the psychomotor development. The paraclinical assessment consisted of a radiograph of the skeleton and a cerebral tomodensitometry confirming bicoronal synostosis and bone syndactyly; an abdominopelvic, cardiac ultrasound didn’t reveal any abnormalities; toxoplasmic serology was negative and rubella serology positive. The association of Apert syndrome with positive rubella serology seems fortuitous. Also, the association of choanal atresia and cleft palate has not commonly been reported in Apert syndrome. In the absence of surgical the infant has been followed until 9 months with therapeutic prospects

High Immunoglobulin G2 (IgG2) and Low IgG4 Levels Are Associated with Human Resistance to Plasmodium falciparum Malaria

There is accumulating evidence for a role of immunoglobulin G (IgG) in protection against malarial infection and disease. Only IgG1 and IgG3 are considered cytophilic and protective against P. falciparum, whereas IgG2 and IgG4 were thought to be neither and even to block protective mechanisms. However, no clear pattern of association between isotypes and protection has so far emerged. We analyzed the isotypic distribution of the IgG response to conserved epitopes and P. falciparum blood-stage extract in 283 malaria-exposed individuals whose occurrence of infection and malaria attack had been monitored for about 1 year. Logistic regression analyses showed that, at the end of the season of transmission, high levels of IgG2 to RESA and to MSP2 epitopes were associated with low risk of infection. Indeed, IgG2 is able to bind FcγRIIA in individuals possessing the H131 allele, and we showed that 70% of the study subjects had this allele. Also, high specific IgG4 levels were associated with an enhanced risk of infection and with a high risk of malaria attack. Moreover, specific IgG2 and IgG3 levels, as well as the IgG2/IgG4 and IgG3/IgG4 ratios, increased with the age of subjects, in parallel with the protection against infection and disease. IgG4 likely competes with cytophilic antibodies for antigen recognition and may therefore block cytotoxicity mediated by antibody-activated effector cells. In conclusion, these results favor a protective role of IgG3 and IgG2, which may activate effector cells through FcγRIIA, and provide evidence for a blocking role of IgG4 in malarial infection and disease