Population record
· 3 retained evidence mentions
Source-grounded findings
Supporting evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| population | Population | “Monogenic variants drive low recurrence risk in pediatric steroid-resistant nephrotic syndrome after kidney transplantation: a high-consanguinity cohort. Genetic testing (performed in 59/60 patients, 98.3%) identified pathogenic variants in 44 patients (74.6%); NPHS2 was most prevalent (28.8%). CONCLUSIONS: SRNS/FSGS accounts for approximately 29% of paediatric CKD 5 in this cohort and is characterised by a high prevalence of monogenic variants reflecting regional consanguinity.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “This study characterizes disorders of sex development (DSD) in 60 Sudanese patients recruited from Khartoum (2021 - 2022), revealing a high rate of late presentation (63.3% post-puberty), consanguinity, and female genital mutilation (FGM) in 75% of cases with genotype - phenotype discordance. The findings underscore the influence of sociocultural practices such as female genital mutilation, and consanguinity on the expression and management of disorders of sex development in Sudan.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “We studied 60 patients with DSD using clinical data, cytogenetics, and PCR for the SRY gene. There was a high percentage of consanguineous parents (85%). In conclusion, DSD in Sudan has a distinct profile with late presentation, dominated by 5αR2D-DSD due to the increased consanguineous marriage, and FGM represents a significant risk for DSD patients.” | 0.80 | saudi_context_rules_v1 |