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BackgroundBreast 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.MethodsThe 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.ResultsEarly 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.ConclusionThis 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.

Background: Epilepsy is a common disease with economic impact in form of frequent clinical visits, investigations and management. Objective: To estimate the direct and part of the indirect costs of epilepsy. Design and methods: The study was performed on a case series of medically treated Sudanese patients with epilepsy in a charity clinic. Data on clinical characteristics, utilization of medical services, and costs were collected from 38 patients using a standardized pre-tested format. The patients' approval was obtained as necessary. Results: Direct medical care costs was (2,395 Sudanese Pounds "SDG", 417 American Dollars "USD") per year per patient, of which antiepileptic drugs was the major component (1,587 SDG, 276 USD). Other costs are medical consultations and hospitalization charges (SDG 148, 26 USD), investigations cost (146 SDG, 25 USD), and cost of travel to clinics (514 SDG, 90 USD). Nonmedical direct cost -in form of traditional healers' visits were reported by 13.5% of the patients and estimated to be (1,422 SDG, 251 USD) per patient per year. The indirect cost was estimated for co-patients transportation, which is reported by patients who resides outside the state, making 7.9% of patients, and estimated to be (1,773 SDG, 308USD) per co-patient per year. The overall mean annual cost for epilepsy per patient in our clinic was approximately (2,724 SDG, 474 USD). Conclusion:The economic burden on epilepsy patients is heavy, and the contributors to the cost in Sudan have many similar features and some noteworthy differences with that of other countries.

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The aim of this study is to identify the factor(s) associated with memory disturbances among adult Sudanese epileptic patients. Methodology: A case series study of 47 consecutive epileptic patients was done in different neurologic and psychiatric outpatient clinics in Khartoum State. Patients in the post ictal phase and with memory disturbances from different etiologies were excluded. Patients were interviewed by three psychiatrists and trained doctors using the memory component of the mental state examination to objectively assess memory disturbances. The subjective component of memory was assessed by a validated questionnaire (The Questionnaire of Memory Efficacy). Anxiety and depression were assessed by the validated Hospital Anxiety and Depression Scale (HADS). Patients consent was obtained as necessary. Results: Short and long term memory disturbances were objectively detected in 68.1% and 31.9% of patients respectively. There was no significant association in the mean long term memory score among patients with idiopathic generalized epilepsy and temporal lobe epilepsy (P = 0.72). However, there was a significant difference in the mean short term memory score among patients with temporal lobe epilepsy compared to idiopathic generalized epilepsy (p = 0.02). There was no significant association between the mean memory score and the duration of epilepsy, use of sodium valproate, carbamazepine and polytherapy (P = 0.34, 0.07, 0.43, 0.93) respectively. There was a correlation between memory disturbances and both anxiety and depression (R = 0.72, R 2 = 0.51, P = 0.00) and (R = 0.35, R 2 = 0.12, P = 0.025). Conclusion: Epilepsy causes significant memory disturbances that may be attributable to the disease itself and associated anxiety and depression.