RESUMEN
BACKGROUND: Breast cancer (BC) is the most common type of cancer in women. Among many risk factors of BC, mutations in BRCA2 gene were found to be the primary cause in 5-10% of cases. The majority of deleterious mutations are frameshift or nonsense mutations. Most of the reported BRCA2 mutations are protein truncating mutations. METHODS: The study aimed to describe the pattern of mutations including single nucleotide polymorphisms (SNPs) and variants of the BRCA2 (exon11) gene among Sudanese women patients diagnosed with BC. In this study a specific region of BRCA2 exon 11 was targeted using PCR and DNA sequencing. RESULTS: Early onset cases 25/45 (55.6%) were premenopausal women with a mean age of 36.6 years. Multiparity was more frequent within the study amounting to 30 cases (66.6%), with a mean parity of 4.1. Ductal type tumor was the predominant type detected in 22 cases (48.8%) among the reported histotypes. A heterozygous monoallelic nonsense mutation at nucleotide 3385 was found in four patients out of 9, where TTA codon was converted into the stop codon TGA. CONCLUSION: This study detected a monoallelic nonsense mutation in four Sudanese female patients diagnosed with early onset BC from different families. Further work is needed to demonstrate its usefulness in screening of BC.
Asunto(s)
Alelos , Proteína BRCA2/genética , Neoplasias de la Mama/genética , Polimorfismo de Nucleótido Simple , Adulto , Anciano , Anciano de 80 o más Años , Secuencia de Aminoácidos , Secuencia de Bases , Estudios de Casos y Controles , Codón sin Sentido , Exones , Femenino , Heterocigoto , Humanos , Persona de Mediana Edad , Premenopausia , Análisis de Secuencia de ADN , Sudán/epidemiologíaRESUMEN
Given the persistent recurrence of armed conflict, influential actors owe it to the affected communities to take action. The legitimacy of health professionals to mitigate the effects of conflict relates to their ability to save lives and address the physical and mental consequences of armed conflict during which thousands of lives may be lost. Medical professionals have unique and potentially far-reaching skills. These become crucial during wartime and disasters in terms of providing medical services and humanitarian aid. However, they are insufficiently used in one area: involvement in politics as a tool to foster peace. Despite this, Sudanese individuals from medical backgrounds have participated actively in conflict resolution and peace-building processes. In fact, their political actions throughout the last six decades have aimed to prevent conflict at four different levels, which are described by Yusuf et al. in their article on the political involvement of health professionals in prevention. Their stand against President Nimeiri's Sharia laws was primordial prevention of religious conflict at the national level. Their leading role in the second Sudanese Intifada uprising was a key factor in saving the country from civil war, and another example of primary prevention. Sudanese physicians were also involved in secondary prevention by being influentially involved in almost all national peace agreements. Avoiding disputes at the tertiary level represents the weakest link in their repeated efforts. This paper outlines the different roles Sudanese medical personnel have taken in peacemaking. It also critically evaluates them in order to consider new methods of political involvement that suit future challenges.
Asunto(s)
Conflictos Armados/historia , Rol del Médico/historia , Política , Conflictos Armados/prevención & control , Historia del Siglo XX , Historia del Siglo XXI , Humanos , SudánRESUMEN
BACKGROUND: Ebola virus disease (EVD) is an infectious disease associated with a high fatality rate. Health care providers (HCPs) are frequently infected while treating patients with suspected or confirmed EVD. Knowledge of, attitudes toward, and practices of HCP toward EVD, especially in hot spots, is an essential element to control the disease. MATERIALS AND METHODS: In this descriptive, cross-sectional, health facility-based study, 258 HCPs were interviewed in different health facilities in hot spots in the targeted states, including district and federal hospitals and health centers, using a self-administrated questionnaire. RESULTS: The majority of respondents were house officers (40.7%), followed by nurses (26.4%). The remaining respondents were registrars, medical officers, and allied health professionals. All participants had heard about EVD. There were significant differences in the knowledge of doctors and allied health care providers regarding modes of transmission and clinical manifestations. Some false information, such as airborne transmission (53.1%) and insect transmission (20.2%), was reported by respondents. The majority of respondents (81.3%) claimed that they would treat patients with suspected EVD while taking a safe approach, 83.5% said they would notify health authorities about cases of suspected EVD, and 91.1% reported not attending any training sessions about EVD. CONCLUSION: The media plays an important role in increasing awareness about EVD. Regardless, however, researchers recommend more in-service training for HCPs to increase their knowledge about EVD.