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On literature review, a total of 98 mutation-proven cases of CACP syndrome have been reported till date. Arthropathy in CACP syndrome mainly involves knees, wrists, ankles, and hips. Pericarditis is usually mild, however, can present rarely with severe symptoms requiring surgical intervention. CACP syndrome can closely mimic inflammatory arthritis and early clinical recognition is important to avoid misdiagnosis. Molecular confirmation is essential for early diagnosis and future genetic counselling for affected families.
Civil registration and vital statistics (CRVS) systems should be the primary source of routine mortality data. However, there is lack of information about the completeness of death registration at the sub-national level of Egypt. The current study was conducted to estimate the completeness of death registration at the national and sub-national levels of Egypt, to investigate the spatial patterns of the completeness, and to examine the factors that influence it.
Data from the Central Agency for Public Mobilization and Statistics (CAPMAS, 2018) and Egypt Demographic and Health Survey (EDHS 2008, 2014) were used to estimate the completeness of death registration using an empirical method (random-effects models); hot spot analysis was conducted using Moran's I and Getis-Ord Gi*; and the geographically weighted regression (GWR) model has been also carried out.
The study estimates show that Egypt has 96% completeness of death registration, and all governorates have completeness of more than 90% except for Benystem in some rural areas and in lower Egyptian governorates.
Although the completeness in Egypt is almost 100%, this analysis suggests that it may not be, and that it could be somewhat lower in some rural areas. However, there is uncertainty in the sub-national estimates because deaths are only reported by place of occurrence and not place of usual residence. Thus, efforts should focus on improving the quality of data of the vital registration system in some rural areas and in lower Egyptian governorates.
Cancer gene panel testing is available in Ireland. The need for a clear strategy to deal with patient information generated from tumour genomic testing is recognised as a challenge in the National Cancer Strategy. However, the public's attitude and opinions regarding these results is not known in Ireland.
This prospective questionnaire study assessed the knowledge and opinions of patients in a national oncology centre, surrounding cancer gene panel testing.
An anonymised modified validated questionnaire was completed by volunteering patients in the medical oncology department. FK228 It comprised 14 questions which assessed patient's familiarity, intention, benefits and concerns associated with tumour genetic testing using a four-point Likert scale. Patients recorded their primary cancer diagnosis and family cancer history.
Eighty-four patients completed the questionnaire with 77 (92%) patients declaring their primary cancer diagnosis. The median age was 56 (range 26 to 83) years. Overall, 42% (n = 35) of oncology patients were familiar/somewhat familiar with testing and 90% (n = 76) stated they would avail of genetic testing if available. Patients with breast cancer were no more likely to avail of genetic testing when compared with the non-breast cancer cohort (n = 21 vs. 56, p = 0.58) though they identified concerns with potential discrimination.
This is the first prospective Irish study to assess opinions surrounding cancer gene results. Addressing patient's lack of information as regards genetic testing is the first step in establishing a national cancer genetics testing programme in Ireland.
This is the first prospective Irish study to assess opinions surrounding cancer gene results. Addressing patient's lack of information as regards genetic testing is the first step in establishing a national cancer genetics testing programme in Ireland.Less than a quarter century after the discovery of SNCA as the first attributable gene in Parkinson's disease (PD), our knowledge of the genetic architecture underlying this disease has improved by leaps and bounds. About 5-10% of all patients suffer from a monogenic form of PD where mutations in autosomal-dominant (AD) genes-SNCA, LRRK2, and VPS35 and autosomal recessive (AR) genes-PINK1, DJ-1, and Parkin cause the disease. Whole-exome sequencing has described AR DNAJC6 mutations not only in predominantly atypical, but also in patients with typical PD. Majority of PD is genetically complex, caused by the combination of common genetic variants in concert with environmental factors. Genome-wide association studies have identified twenty six PD risk loci till date; however, these show only moderate effects on the risk for PD. The validation of novel genes and its association with PD remains extremely challenging as families harboring rare genetic variants are sparse and globally widespread. This review article aims to provide a comprehensive overview on PD genetics.The aim of this study was to determine whether the occurrence of focal to bilateral motor seizures in the course of partial drug withdrawal during video-EEG monitoring (FTBMS-M) had a predictive value for seizure recurrence in surgically treated patients with mesial temporal lobe epilepsy (MTLE). We analyzed the outcomes of 59 patients who underwent temporal lobe resection at 12 month postoperative follow up. In total, 48 out of 59 patients were rendered seizure free (81.4%). We analyzed seizure recurrence after surgery with reference to (i) occurrence of seizures after partial drug withdrawal during video-EEG monitoring (FTBMS-M); (ii) history of secondarily generalized seizures during antiepileptic drug treatment prior to presurgical evaluation (FTBMS-H) and (iii) other possible confounding factors (sex, age, epilepsy duration, side of surgery, presence of hippocampal sclerosis, and history of febrile seizures). We found no differences in the frequency of seizure recurrences between patients with FTBMS-M and patients without FTBMS-M (4/20 vs. 7/39; p = 0.848). Conversely, the frequency of seizure recurrence was significantly higher among the patients with FTBMS-H than among the patients without FTBMS-H (7/20 vs. 4/39; p = 0.021). The predictive value of FTBMS-H for postoperative seizure recurrence was confirmed in logistic regression analysis. We found a statistically significant influence of FTBMS-H on poor outcome after surgery, but not of FTBMS-M or other confounding variables, which suggests that withdrawal seizures do not affect postsurgical seizure control.
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