Influence of CYP2B6 and CYP3A4 polymorphisms on the virologic and immunologic responses of patients treated with efavirenz-containing regimen.

OBJECTIVES: The main objective of this study was to evaluate the effect of CYP2B6 and CYP3A4 polymorphisms on the virological and immunologic responses of HIV patients. A total of 153 HIV-positive patients were enlisted for the study. PATIENTS AND METHODS: Viral load and median CD4 T cell counts were evaluated at baseline and month 6 (M6). Samples were identified using TaqMan genotyping assays. RESULTS: The AG in CYP2B6 rs2279343 was associated with VLS compared to homozygous AA. In the dominant model, the AG/GG genotypes were associated with VLS compared to the AA genotype. Moreover, in overdominant model, the AG genotype was associated with VLS compared to AA/GG. Regarding immunological response, only the AG in SNP rs2279343 CYP2B6 was associated with an increase in CD4 cell count between baseline and M6. In CYP2B6 rs3745274, the CD4 cell count at M6 was higher than that of baseline for GG carriers and for GT carriers. In CYP3A4 rs2740574, the TC carriers showed a higher median CD4 count at M6 compared to that of the baseline count, as well as for CC carriers. The best genotypes combination associated with CD4 cell count improvement were AA/AG in SNP rs2279343 and GG/GT in SNP rs3745274. CONCLUSION: Our findings support the fact that CYP2B6 rs2279343 could help in the prediction of VLS and both SNPs rs3745274 and rs2279343 in CYP2B6 and CYP3A4 rs2740574 were associated with immune recovery in Malian HIV-positive patients.

Orbital migration of schistosome eggs: a case report.

BACKGROUND: Ocular damage, including damage to the conjunctiva, lacrimal gland, eyelids, and orbit, caused by Schistosoma haematobium is sporadic. We report a clinical case of orbital migration of schistosome eggs. CASE PRESENTATION: A 14-year-old boy of Malian nationality presented with a painless swelling of the upper right eyelid, which had been gradually increasing for approximately 3 months. Visual acuity was logMAR 0.10 and 0.00 in the right and left eye, respectively. External examination revealed a right palpebral mass, pushing the globe slightly downward and inward. Computed tomography revealed a mass of the right lacrimal gland. Total excision of the mass was performed by transpalpebral orbitotomy. Pathological examination revealed an inflammatory granulomatous infiltrate of the lacrimal gland consisting of lymphocytes, eosinophils, giant cells, epithelioid cell, histiocytes and calcified Schistosoma eggs with terminal spine. Urine examination revealed eggs of S. haematobium. Praziquantel 40 mg/kg was administered to the patient. The hematuria stopped after 1 week. After 3 years of follow-up, no recurrence was noted. CONCLUSIONS: The bilharzian granuloma of the lacrimal gland is an ectopic site of the parasite. In this case, the granuloma was cured by surgical excision followed by a course of Praziquantel.

Association of Genetic Variants With Primary Open-Angle Glaucoma Among Individuals With African Ancestry.

Importance: Primary open-angle glaucoma presents with increased prevalence and a higher degree of clinical severity in populations of African ancestry compared with European or Asian ancestry. Despite this, individuals of African ancestry remain understudied in genomic research for blinding disorders. Objectives: To perform a genome-wide association study (GWAS) of African ancestry populations and evaluate potential mechanisms of pathogenesis for loci associated with primary open-angle glaucoma. Design, Settings, and Participants: A 2-stage GWAS with a discovery data set of 2320 individuals with primary open-angle glaucoma and 2121 control individuals without primary open-angle glaucoma. The validation stage included an additional 6937 affected individuals and 14 917 unaffected individuals using multicenter clinic- and population-based participant recruitment approaches. Study participants were recruited from Ghana, Nigeria, South Africa, the United States, Tanzania, Britain, Cameroon, Saudi Arabia, Brazil, the Democratic Republic of the Congo, Morocco, Peru, and Mali from 2003 to 2018. Individuals with primary open-angle glaucoma had open iridocorneal angles and displayed glaucomatous optic neuropathy with visual field defects. Elevated intraocular pressure was not included in the case definition. Control individuals had no elevated intraocular pressure and no signs of glaucoma. Exposures: Genetic variants associated with primary open-angle glaucoma. Main Outcomes and Measures: Presence of primary open-angle glaucoma. Genome-wide significance was defined as P < 5 × 10-8 in the discovery stage and in the meta-analysis of combined discovery and validation data. Results: A total of 2320 individuals with primary open-angle glaucoma (mean [interquartile range] age, 64.6 [56-74] years; 1055 [45.5%] women) and 2121 individuals without primary open-angle glaucoma (mean [interquartile range] age, 63.4 [55-71] years; 1025 [48.3%] women) were included in the discovery GWAS. The GWAS discovery meta-analysis demonstrated association of variants at amyloid-ß A4 precursor protein-binding family B member 2 (APBB2; chromosome 4, rs59892895T>C) with primary open-angle glaucoma (odds ratio [OR], 1.32 [95% CI, 1.20-1.46]; P = 2 × 10-8). The association was validated in an analysis of an additional 6937 affected individuals and 14 917 unaffected individuals (OR, 1.15 [95% CI, 1.09-1.21]; P < .001). Each copy of the rs59892895*C risk allele was associated with increased risk of primary open-angle glaucoma when all data were included in a meta-analysis (OR, 1.19 [95% CI, 1.14-1.25]; P = 4 × 10-13). The rs59892895*C risk allele was present at appreciable frequency only in African ancestry populations. In contrast, the rs59892895*C risk allele had a frequency of less than 0.1% in individuals of European or Asian ancestry. Conclusions and Relevance: In this genome-wide association study, variants at the APBB2 locus demonstrated differential association with primary open-angle glaucoma by ancestry. If validated in additional populations this finding may have implications for risk assessment and therapeutic strategies.

[OCULO-ORBITAL TUMOURS AT THE NATIONAL UNIVERSITY HOSPITAL CENTRE OF BANGUI (CNHUB), CENTRAL AFRICAN REPUBLIC, IN 2022]. / TUMEURS OCULO-ORBITAIRES AU CENTRE NATIONAL HOSPITALIER UNIVERSITAIRE DE BANGUI (CNHUB), RÉPUBLIQUE CENTRAFRICAINE, EN 2022.

Introduction: Oculo-orbital tumors are common. Their clinical and histological features are multiple. The management of oculo-orbital tumors is a real challenge in sub-Saharan Africa, especially in our context. The aim of this study was to contribute to the improvement of the management of oculo-orbital tumors at the Bangui Teaching Hospital (CNHUB). Methodology: This was a prospective, observational study of oculo-orbital tumors over 12 months from January 1 to December 31, 2022 in the ophthalmology department of the CNHUB. All consenting patients with histologically proven tumors of the eyeball and/or its adnexa were included in this study, regardless of age and sex.The parameters studied were:epidemiological: age, sex, occupation, origin;clinical: time of consultation, functional signs and associated signs, physical examination signs, risk factors;paraclinical: report of the anatomopathological examination of the operating room;therapeutic: treatment modalities (chemotherapy, surgery, palliative treatment, radiotherapy).These data were collected on a pre-established survey form for direct administration. The processing and the production of the results were carried out with Excel and Epi Info 7.0 software. Results: We included 97 patients with a mean age of 37.5 years, ranging from 2 to 70 years. There was a male predominance (sex-ratio = 1.8). Almost all patients lived in Bangui (96%). Patients under 40 years of age were most commonly affected (55%). The majority of tumors were benign (55%). Ocular pain (24%), lacrimation (22%) and orbital swelling (16%) were the main symptoms. Risk factors were mainly age (23%), diabetes (22%), HIV infection (16%) and alcohol and tobacco use (37%). The most common treatments were surgical removal (68%) and enucleation (16%). Chemotherapy was combined with surgery in 37% of cases. Conclusion: Oculo-orbital tumors are frequent in our context. Their morpho-histological presentations are varied. A multidisciplinary approach is important for a good management.

[Bilateral chorioretinian colobome: about a case]. / Colobome chorioretinien bilateral: à propos d'un cas.

Chorioretinian coloboma often raises clinical issues leading sometimes to some confusion. Nevertheless, diagnosis must be as accurate as possible for several reasons: the association of some congenital anomalies of the papilla with other neurologic, endocrine and systemic disorders as well as issues in differential diagnosis between it and other ophthalmic disorders. We report a clinical case of a 6 year old child, the first boy in a family with 2 children, with bilateral papillar coloboma and without other associated malformations. Patient?s history: normal birth and updated immunisation status. His father and his 4-year-old sister underwent ophthalmic examination which was unremakable. However his mother had diverge strabismus in the right eye.

[Bilateral papilledema secondary to intracranial hypertension in an adolescent girl]. / Œdème papillaire bilatéral secondaire à une hypertension intracrânienne chez une adolescente.

Papilledema is a fluid and/or axonal swelling of the optic nerve head due to a blockage of axoplasmic flow at the level of the cribriform plate. We report the case of a 17-year old adolescent girl with bilateral papilledema secondary to idiopathic intracranial hypertension.