Food insecurity is highly prevalent among people living with HIV (PLHIV) in Senegal and is associated with poor HIV outcomes. Multisectoral nutrition-sensitive agricultural (MNSA) programs may address interconnected drivers of poor HIV outcomes, but evidence is limited, particularly in West Africa. This pilot study evaluated the perceptions and impact of a MNSA program implemented in Senegal. We conducted a convergent mixed methods study among adults ≥18 years of age, living with HIV and receiving ART in Ziguinchor, Senegal. For the quantitative strand, data from MNSA program participants and historical controls were compared. Quantitative measures included the Household Food Insecurity Access Scale (HFIAS), Body Mass Index (BMI), CD4 cell count, and HIV viral load. Group differences were assessed using Chi-square and Mann-Whitney U tests, and logistic regression was used to examine associations with viral suppression. For the qualitative strand, semi-structured interviews were conducted with MNSA program participants. Qualitative data were analyzed thematically. Data from 56 program participants and 59 controls were included. Viral suppression (<1000 copies/mL) was significantly higher among MNSA participants than controls (94.2% versus 77.8%, p = 0.02). Participants had higher median BMI (24.8 versus 21.7, p < 0.01) and lower prevalence of underweight. Moderate-to-severe food insecurity was lower among program participants, though differences were not statistically significant. Logistic regression showed a trend towards an association between MNSA program participation and viral suppression (OR 3.84; 95% CI 0.97-15.13). Qualitative interviews revealed five major themes: greater autonomy and empowerment, improved mental health, strengthened social cohesion, improved household nutrition and financial stability, and enhanced ART adherence. Findings from this pilot study suggest that the MNSA program is acceptable and may be associated with improvements in viral suppression, nutritional status, food security, and psychosocial well-being among PLHIV. Future studies using a randomized controlled approach are needed to further evaluate impacts, explore mechanisms, and assess potential for scalability.
Piezo2 channels are mechanosensors expressed in dorsal root ganglia and Merkel cells, and involved in proprioception and touch sensation. PIEZO2 pathogenic variants cause rare autosomal dominant and recessive disorders. Dominant forms include distal arthrogryposis type 3, 5, and Marden-Walker syndrome, whereas the recessive form corresponds to distal arthrogryposis with impaired proprioception and touch (DAIPT). Given the rarity of these conditions, additional reports are essential to refine their phenotypic characterization. We conducted a multicenter, retrospective study to identify patients with genetically confirmed PIEZO2-related disorders. We collected clinical data through a standardized assessment. Previously published cases were included when more detailed phenotypic information was available. We identified 44 individuals with a clinical diagnosis of PIEZO2-related disorders. Among them, we selected 42 patients with a confirmed molecular diagnosis. Sixteen of them (10 males and 6 females; median age at diagnosis: 8 years; range 0.9-14) carried biallelic pathogenic PIEZO2 variants. They typically presented with neonatal hypotonia and respiratory distress with feeding difficulties. Distal arthrogryposis was associated with a variable multisystemic involvement, including the musculoskeletal system with scoliosis, hip dislocation and laryngomalacia. Twenty-five patients (11 males and 14 females; median age at diagnosis: 7 years; range 0.3-39 years) carried monoallelic variants, exhibiting a broad phenotypic spectrum. An additional prenatal diagnosis (at 23 weeks of gestation) was reported among heterozygous cases. In our cohort, ten previously unpublished causative variants were identified. A systematic assessment of skeletal muscle involvement revealed a severe myofibrillar disarray in one case. This study provides a comprehensive and systematic phenotypic characterization of patients across the spectrum of PIEZO2-related disorders. Our findings support a clear clinical distinction between recessive and dominant forms. The clinical manifestations extend beyond the peripheral nervous system and the Merkel cells, suggesting a broader PIEZO2 tissue expression during early developmental stages. Dominant PIEZO2-related disorders are heterogeneous, ranging from mild to severe forms. Our study also suggests that many patients exhibit a respiratory involvement, emphasizing the need for regular respiratory follow-up in the long-term clinical management of both dominant and recessive forms.
Cerebellar ataxia, mental retardation, and disequilibrium syndrome (CAMRQ)-related disorders are rare, nonprogressive, autosomal recessive conditions primarily characterized by cerebellar ataxia, hypotonia, intellectual disability, delayed ambulation, and, in some cases, quadrupedal locomotion. Pathogenic variants in four disease genes, VLDLR, CA8, WRD81, and ATP8A2, have been linked to these disorders, with cases reported across various ethnic groups and geographic regions. However, no reports of CAMRQ1 (OMIM #224050) have been previously made from Africa. In this study, we report the first African family with four affected siblings exhibiting typical CAMRQ1 clinical features with varying levels of phenotypic severity. Genetic analysis revealed a novel missense homozygous variant (c.1694C > A; p.P565Q) in the VLDLR gene in all the affected individuals, with the parents being heterozygous. Biochemical analysis, including immunofluorescence and confocal laser microscopy, western blot, and endoglycosidase H sensitivity and resistance assay, demonstrated the retention of the p.(P565Q) VLDLR protein in the endoplasmic reticulum (ER), impairing its trafficking to the plasma membrane and thus confirming its pathogenic impact. This ER retention is expected to disrupt VLDLR-mediated signaling pathways, including reelin signaling, thereby affecting neuronal migration. Furthermore, due to its ER retention, the p.(P565Q) is expected to induce ER stress and activate the endoplasmic reticulum-associated degradation (ERAD) pathway. Our findings expand the genetic and geographical spectrum of CAMRQ1 and provide further functional insights into its underlying pathogenesis.
A 70-year-old female patient presented with exudative, lymphocytic left-sided pleural effusion. Blind pleural biopsy histology revealed granuloma without caseous necrosis. Oral corticosteroid therapy was well tolerated and proved effective following one month of treatment.
Abstract Cervical cancer remains a major public health challenge in sub-Saharan Africa, where access to effective screening programs remains limited. Human papillomavirus (HPV) DNA testing has emerged as a highly sensitive screening strategy for cervical precancer and cancer, although less is known about the short-term reproducibility of repeat HPV testing in high-burden settings. This analytic observational study used secondary data from two Senegalese cohort studies conducted between 1998 and 2006 to evaluate the reproducibility and screening performance of paired cervical swab HPV DNA tests collected within 119 days of one another among 768 women. Agreement between the first and second swab HPV DNA tests was evaluated using percent agreement and Cohen’s kappa (κ) for overall high-risk HPV (hrHPV), low-risk HPV, and genotype-specific detection. Screening performance analyses compared four paired testing strategies, and exploratory logistic regression analyses examined factors associated with discordant paired hrHPV results. Reproducibility for any hrHPV detection was substantial (κ = 0.74, 95% CI: 0.69–0.79), with almost perfect agreement observed for HPV16 (κ = 0.85, 95% CI: 0.79–0.91). Agreement remained substantial across age, HIV status, education level, marital status, lifetime number of sexual partners, parity, contraceptive use, and cervical disease categories. Discordance was more likely when samples were collected 30–59 days apart than within 0–29 days and was less common among women with CIN2+, ICC, or HIV infection. Compared with a single swab strategy, classifying either swab as positive increased sensitivity for detection of both cervical intraepithelial neoplasia grade 2 or higher (CIN2+) and invasive cervical cancer (ICC) by approximately 7–8%. This study demonstrates that paired cervical hrHPV DNA testing has substantial short-term reproducibility among women in Senegal, particularly for carcinogenic HPV types associated with cervical cancer. The findings support single hrHPV DNA testing as a reliable screening strategy in this high-burden setting while highlighting the importance of cautious interpretation of discordant repeat results, particularly among women without high-grade cervical disease.
