Molecular analysis of exons 8, 9 and 10 of the fibroblast growth factor receptor 2 (FGFR2) gene in two families with index cases of Apert Syndrome

Introduction: Apert syndrome (AS) is a craniosynostosis condition caused by mutations in the Fibroblast Growth Factor Receptor 2 (FGFR2) gene. Clinical features include cutaneous and osseous symmetric syndactily in hands and feet, with variable presentations in bones, brain, skin and other internal organs. Methods: Members of two families with an index case of Apert Syndrome were assessed to describe relevant clinical features and molecular analysis (sequencing and amplification) of exons 8, 9 and 10 of FGFR2 gen. Results: Family 1 consists of the mother, the index case and half -brother who has a cleft lip and palate. In this family we found a single FGFR2 mutation, S252W, in the sequence of exon 8. Although mutations were not found in the study of the patient affected with cleft lip and palate, it is known that these diseases share signaling pathways, allowing suspected alterations in shared genes. In the patient of family 2, we found a sequence variant T78.501A located near the splicing site, which could interfere in this process, and consequently with the protein function.

The revolving door of mental, neurological, and substance use disorders re-hospitalization in rural KwaZulu-Natal Province, South Africa.

Objective: Little is known about the extent of mental, neurological and substance-use (MNS) disorders re-hospitalization in South Africa. We examined the extent of one-year MNS re-hospitalization (MNS-R) in a rural South African primary health care facility (PHCF). Methods: We conducted a retrospective analysis of hospital administrative data from 10,525 adults discharged from a rural PHCF in KwaZulu-Natal Province, South Africa. Chi-squared tests were utilized to describe MNS-R within one year of an index hospital admission in individuals with MNS, with a sub-analysis also being conducted to describe schizophrenia re-hospitalization (S-R). Results: The prevalence of MNS and schizophrenia recorded at an index hospitalization was 5% and 1%, respectively. A total of 44/67 (66%) individuals with a diagnosis of MNS at the index hospitalization were classified as having MNS-R during oneyear follow-up period. Half of those diagnosed with schizophrenia at the index hospitalization (6/12 patients) were classified as having S-R during one-year follow-up period. There was a significant association between re-hospitalization outcomes (MNS-R and S-R) and MNS (p<0.01) or schizophrenia diagnosis (p<0.01) at index baseline hospitalization. Conclusion: The extent of MNS-R and S-R remains relatively high in rural South Africa, and needs further health systems strengthening to prevent revolving door occurrences.