Search

Introduction: Leber Congenital Amaurosis (LCA) is an inherited retinal disease that presents in infancy with severely decreased vision, nystagmus, and extinguished electroretinography findings. LCA8 is linked to variants in the Crumbs homolog 1 (CRB1) gene., Case Description: We report a novel CRB1 variant in a 14-year-old male presenting with nystagmus, worsening vision, and inability to fixate on toys in his infancy. Color fundus photography revealed nummular pigments in the macula and periphery. Imaging studies revealed thickened retina on standard domain optical coherence tomography and widespread atrophy of the retinal pigment epithelium on autofluorescence. Full-field electroretinography revealed extinguished scotopic and significantly reduced photopic responses. Genetic testing demonstrated a novel homozygous variant, c.3057 T > A; p.(Tyr1019Ter), in the CRB1 gene. This variant is not currently amenable to base editing, however, in silico analysis revealed several potential prime editing strategies for correction., Conclusion: This case presentation is consistent with LCA8, suggesting pathogenicity of this novel variant and expanding our knowledge of disease-causing CRB1 variants., (© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Purpose: Studies have shown the prevalence of iron deficiency anemia (IDA) increasing worldwide, and currently the literature is limited on the impact of IDA on outcomes following revision total hip arthroplasty (RTHA). Therefore, the purpose of this study was to determine whether IDA patients undergoing RTHA have longer: 1) in-hospital lengths of stay (LOS); 2) medical complications; and 3) costs of care., Materials and Methods: A retrospective query of a nationwide administrative claims database was performed. Using Boolean command operations, the study group consisted of all patients in the database undergoing RTHA with IDA; whereas, patients without IDA served as controls. To reduce the effects of confounding, study group patients were matched to controls in a 1:5 ratio by age, sex, and medical comorbidities yielding 92,948 patients with (n=15,508) and without (n=77,440) IDA undergoing revision THA. A P -value less than 0.001 was considered statistically significant., Results: IDA patients were found to have significantly longer in-hospital LOS (5 days vs. 4 days, P <0.0001). Additionally, the study showed IDA patients were found to higher incidence and odds of (73.84% vs. 11.77%, OR 5.04, P <0.0001) 90-day medical complications. IDA patients also incurred high 90-day episode of care costs ($25,597.51 vs. $20,085.70, P <0.0001)., Conclusion: After adjusting for age, sex, and medical comorbidities this study of over 92,000 patients demonstrated IDA is associated with longer in-hospital LOS, complications, and costs of care. Future studies should compare the duration and severity of IDA on outcomes., Competing Interests: CONFLICT OF INTEREST: The authors declare that there is no potential conflict of interest relevant to this article., (Copyright © 2021 by Korean Hip Society.)

The use of Amodiaquine monotherapy is associated with the selection of molecular markers of Plasmodium falciparum resistance to chloroquine (pfcrt and pfmdr1). The decrease in sensitivity and the emergence of P. falciparum resistant to artemisinin-based combination therapy have been reported. Therefore, it is important to assess the impact of treatment of uncomplicated malaria with Artesunate-Amodiaquine (AS+AQ) on molecular markers of antimalarial resistance. We used standard World Health Organization (WHO) protocols to determine the in vivo efficacy of the combination (AS+AQ). In total, 170 subjects were included in the study. The molecular analysis focused on 168 dried blood spots. The aims were to determine the frequency of pfcrt 76T and pfmdr1 86Y mutations and the rates of reinfection using polymorphism markers msp1, msp2, and microsatellite markers (CA1, Ta87, TA99). Nested-PCR was used, followed in some cases by a restriction digestion. The level of P. falciparum clinical response was 92.9% (156/168) of Adequate Clinical and Parasitological Response (ACPR) before molecular correction and 97.0% (163/168) after molecular correction (P = 0.089). The frequency of mutation point pfcrt 76T was 76.2% (128/168) before treatment and 100% (7/7) after treatment (P = 0.1423). For the pfmdr1 mutation, the frequency was 28% (47/168) before treatment and 60% (6/10) after treatment (P = 0.1124). The rate of pfcrt 76T + pfmdr1 86Y was 22% (37/168) before and 50% (6/12) after treatment (P = 0.1465). Despite the presence of AS in the combination, AS+AQ selects for pfcrt 76T and pfmdr1 86Y mutant P. falciparum in Guinea., (© American Society of Parasitologists 2021.)

Guinea's reference ranges for biological parameters rely on those of Caucasian values. Variability in reference ranges according to the context is well-documented. We conducted this study for the purpose of future malaria clinical trials that assess the efficacy and safety of malaria drugs. A repeated cross-sectional study was carried out, in an apparently healthy cohort population. Surveys took place in Maferinyah rural community, which is located at 75 km from the capital. The 2.5 th and 97.5 th percentiles were determined nonparametrically and stood for reference intervals. Reference values were determined separately for males and females according to ranges of age (6-10 years of age; 11-15 years of age; 16-45 years of age). Differences between genders were tested using the Mann-Whitney test, while the Friedman test was performed to test differences within each gender group according to the seasons. A total of 450 volunteers were enrolled. The median age was 13. Males 16-45 years of age had significantly higher hematologic and biochemical values compared to a female of the same age (for hematological parameters: Mean Cell Hemoglobin Concentration MCHC p ≤ 0.001, Platelets p ≤ 0.001, monocytes p = 0.0305, eosinophils p = 0.0225; for biochemical parameters: Aspartate aminotransferase AST p ≤ 0.001, Alanine Aminotransferase ALT p ≤ 0.001, creatinine p ≤ 0.001). We noticed significant seasonal variations for all the biochemical parameters and some hematologic parameters (Mean Corpuscular Hemoglobin MCH, MCHC, Mean Cell volume). This is the first study establishing hematologic and biochemical parameters in Guinea. These findings provide a useful guide for the clinical researchers and care providers. Studies on large scale and in different settings would be also desirable., Competing Interests: The authors state that there is no conflict with the parties cited in this study., (Copyright © 2020 Abdoul Habib Béavogui et al.)

Introduction: children pay a heavy price for infection with the hepatitis B virus (HBV). The objective of this work was to determine the prevalence of hepatitis B and describe the associated factors in children at the pediatric department of Donka Hospital., Methods: this was a cross-sectional study of a cohort of children in the pediatric department of Donka Hospital. HBsAg was performed by using an immunochromatographic method. The analysis of the data was done with software R. The proportions were compared using the Chi-square test or the Fisher test at the significance level of 5%. A logistic regression model was used to explain the prevalence of hepatitis B., Results: one hundred and forty-nine children were recruited between February and July 2017. HBsAg was present in 12 children, i.e. 8.16% (95% CI: 4.29-13.82). The average age was 93.32 months (IQR: 6-180). Male children were the most affected (n = 11, P <0.05), with a sex ratio of 1.01. The majority (51.35%) were on AZT + 3TC + NVP pediatric form and 25% were on AZT + 3TC + NVP adult form and 23.65% on TDF + FTC + EFV. In univariate analysis, ALT, HBsAg positivity, and maternal HBV vaccination status were associated with the prevalence of HBsAg (P <0.05)., Conclusion: the prevalence of co-infection in children and adults is almost identical in our context. Hence the importance of strengthening preventive measures at all levels, especially the vaccination of children and mothers., Competing Interests: The authors declare no competing interests., (© Djiba Kaba et al.)

In Guinea, family planning (FP) uptake remains low. The objective of this study was to compare the impact of two types of antenatal counseling on modern FP uptake in the postpartum in rural Guinea. This was a two-group non-equivalent study comparing the impact of a reinforced antenatal counseling (intervention) to the routine antenatal counseling (control). The study included 404 pregnant women at five rural health centres in Forécariah district, Western Guinea. Each woman was followed up until the ninth month postpartum. The study was conducted from October 12, 2013 to December 30, 2014. Findings showed that at the ninth month postpartum, use of modern FP was significantly higher in the intervention group than in the control group (5.7% and 1.1%, respectively; p=0.024). However, 67.6% and 65.7% of women in the intervention group and the control group, respectively, abstained from sexual intercourse at the sixth month postpartum and had the intention to do so until the child walks. At the ninth month postpartum such women represented 70.5% and 59.5%, respectively. Therefore, a longer study period is recommended to assess the effect of antenatal counseling on use of modern FP in the postpartum in Guinea.

Background: Sparse data on the safety of pyronaridine-artesunate after repeated treatment of malaria episodes restrict its clinical use. We therefore compared the safety of pyronaridine-artesunate after treatment of the first episode of malaria versus re-treatment in a substudy analysis., Methods: This planned substudy analysis of the randomised, open-label West African Network for Clinical Trials of Antimalarial Drugs (WANECAM) phase 3b/4 trial was done at six health facilities in Mali, Burkina Faso, and Guinea in patients (aged ≥6 months and bodyweight ≥5 kg) with uncomplicated microscopically confirmed Plasmodium spp malaria (parasite density <200 000 per μL blood) and fever or history of fever. The primary safety endpoint was incidence of hepatotoxicity: alanine aminotransferase of greater than five times the upper limit of normal (ULN) or Hy's criteria (alanine aminotransferase or aspartate aminotransferase greater than three times the ULN and total bilirubin more than twice the ULN) after treatment of the first episode of malaria and re-treatment (≥28 days after first treatment) with pyronaridine-artesunate. Pyronaridine-artesunate efficacy was compared with artemether-lumefantrine with the adequate clinical and parasitological response (ACPR) in an intention-to-treat analysis. WANECAM is registered with PACTR.org, number PACTR201105000286876., Findings: Following first treatment, 13 (1%) of 996 patients had hepatotoxicity (including one [<1%] possible Hy's law case) versus two (1%) of 311 patients on re-treatment (neither a Hy's law case). No evidence was found that pyronaridine-artesunate re-treatment increased safety risk based on laboratory values, reported adverse event frequencies, or electrocardiograph findings. For all first treatment or re-treatment episodes, pyronaridine-artesunate (n=673) day 28 crude ACPR was 92·7% (95% CI 91·0-94·3) versus 80·4% (77·8-83·0) for artemether-lumefantrine (n=671). After exclusion of patients with PCR-confirmed new infections, ACPR was similar on treatment and re-treatment and greater than 95% at day 28 and greater than 91% at day 42 in both treatment groups., Interpretation: The findings that pyronaridine-artesunate safety and efficacy were similar on first malaria treatment versus re-treatment of subsequent episodes lend support for the wider access to pyronaridine-artesunate as an alternative artemisinin-based combination treatment for malaria in sub-Saharan Africa., Funding: European and Developing Countries Clinical Trial Partnership, Medicines for Malaria Venture (Geneva, Switzerland), UK Medical Research Council, Swedish International Development Cooperation Agency, German Ministry for Education and Research, University Claude Bernard (Lyon, France), Malaria Research and Training Centre (Bamako, Mali), Centre National de Recherche et de Formation sur le Paludisme (Burkina Faso), Institut de Recherche en Sciences de la Santé (Bobo-Dioulasso, Burkina Faso), and Centre National de Formation et de Recherche en Santé Rurale (Republic of Guinea)., (Copyright © 2016 Sagara et al. Open Access article distributed under the terms of CC BY-NC-ND. Published by Elsevier Ltd.. All rights reserved.)