There is a high prevalence of H. pylori infection among pregnant women in Khartoum, Sudan, and it is not associated with anemia or thrombocytopenia.

Li-Fraumeni syndrome (LFS) is an inherited, autosomal-dominant condition that predisposes individuals to a wide-spectrum of tumors at an early age. Approximately 70% of families with classic LFS have pathogenic variants in the tumor suppressor gene TP53 that disrupt protein function or stability. While more than 70% of pathogenic variants in TP53 are missense variants, the vast majority occur very infrequently, and thus their clinical significance is uncertain or conflicting. Here, we report an extremely rare TP53 missense variant, c.799C > T (p.Arg267Trp), identified in a 2-year-old Saudi proband diagnosed with choroid plexus carcinoma (CPC) and six of his first- and second-degree relatives. CPC is frequently found in families with LFS, and this is the first detailed report of a family with this variant. Intriguingly, the proband’s father is homozygous for TP53 c.799C > T and phenotypically normal at 39 years of age. While loss of TP53 heterozygosity is often observed in tumors from individuals with LFS, homozygous germline TP53 pathogenic variants are rare. Based on our analysis of this single family, we hypothesize that TP53 c.799C > T has low or variable penetrance for LFS, with predisposition to the development of CPC. The observations from this family have furthered our understanding of the phenotypic variability that may be caused by one variant of TP53, even in the same family, and suggest that other factors (genetic and/or environmental) may play a role in mechanism of disease manifestation in LFS.

The Sudan Community Based Family Health Project, begun in 1980, has sought to demonstrate that the existing cadre of practicing government-trained village midwives in the Sudan can be utilized to extend maternal and child health services to rural areas. A majority of these midwives are nonliterate, and attention was placed on effectively implementing a limited set of services, namely, oral rehydration, birth-spacing, nutrition education, and immunization. Carefully planned inservice training programs for midwives and local health workers and an intensive service introduction campaign implemented in phases resulted in mixed success over a relatively short period of observation. Perhaps the most important lessons that have emerged from the program have been about how to design and implement a rural MCH program building on local resources. The experience has since lead project staff to undertake, in a new area, a follow-up program designed to be a more cost-effective and replicable version of the original one.