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Contains fulltext : 125509.pdf (Publisher’s version ) (Open Access) [This corrects the article on p. e76831 in vol. 8.].

Whole-exome sequencing and autozygosity mapping studies, independently performed in subjects with defective combined mitochondrial OXPHOS-enzyme deficiencies, identified a total of nine disease-segregating FBXL4 mutations in seven unrelated mitochondrial disease families, composed of six singletons and three siblings. All subjects manifested early-onset lactic acidemia, hypotonia, and developmental delay caused by severe encephalomyopathy consistently associated with progressive cerebral atrophy and variable involvement of the white matter, deep gray nuclei, and brainstem structures. A wide range of other multisystem features were variably seen, including dysmorphism, skeletal abnormalities, poor growth, gastrointestinal dysmotility, renal tubular acidosis, seizures, and episodic metabolic failure. Mitochondrial respiratory chain deficiency was present in muscle or fibroblasts of all tested individuals, together with markedly reduced oxygen consumption rate and hyperfragmentation of the mitochondrial network in cultured cells. In muscle and fibroblasts from several subjects, substantially decreased mtDNA content was observed. FBXL4 is a member of the F-box family of proteins, some of which are involved in phosphorylation-dependent ubiquitination and/or G protein receptor coupling. We also demonstrate that FBXL4 is targeted to mitochondria and localizes in the intermembrane space, where it participates in an approximately 400kDa protein complex. These data strongly support a role for FBXL4 in controlling bioenergetic homeostasis and mtDNA maintenance. FBXL4 mutations are a recurrent cause of mitochondrial encephalomyopathy onset in early infancy.

Somalia has engendered the policy debate on the extent of the spread of transnational Islamist Jihadist groups in the Horn of Africa (HOA) and their consequences for peace and security across the region. These concerns are justified given the emergence since the late 1980s of extremist groups such as the Eritrean Islamic Jihad Movement and the Somali Jihadist Islamist groups of the likes of Al-Ittihad, the Islamic Courts Union and currently Al Shabab. The leaders and fighters of these groups relocated to the HOA after the defeat of the Taliban following the 2001 US invasion of Afghanistan. The operations of these transnational Islamist groups within and across the countries of the Horn pose serious challenges to the region and beyond.

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an autosomal recessive disease characterized by early infantile macrocephaly and delayed motor and cognitive deterioration. Magnetic resonance imaging (MRI) shows diffusely abnormal and swollen cerebral white matter and subcortical cysts. On follow-up, atrophy ensues. Approximately 80% of MLC patients have mutations in MLC1. We report 16 MLC patients without MLC1 mutations. Eight retained the classical clinical and MRI phenotype. The other 8 showed major MRI improvement. They lacked motor decline. Five had normal intelligence; 3 displayed cognitive deficiency. In conclusion, 2 phenotypes can be distinguished among the non-MLC1 mutated MLC patients: a classical and a benign phenotype.

The Black Book of Sudan is reviewed.

The title of this study raises questions about the meaning and the significance of the words 'modernity', 'tradition' and 'Political Islam' in contemporary Iran. The purpose of this study is to reveal true meanings of the thoughts and practises of the post-revolution Iranian elites and intellectuals, in relations to and alongside the social events, to emphasize the existence of a modernisation process in the institution of state and the moderate re-interpretation of Islam in the religious establishment, which together have given rise to the distinctly Iranian features of political development. This study shall be in a socio-historical setting because political changes and social events in contemporary Iran are difficult to identify and impossible to understand unless their roots are discovered in their true locations.

This book provides an overview of the conditions facing the urban poor in Khartoum, Sudan and explores the opportunities and constraints people of different genders, ages, wealth and social origins face in the pursuant of their livelihoods. Using an in-depth analysis, it argues that the livelihoods of poor people have been severely constrained by both formal and informal institutions that have not allowed them to access capitals and choose the way they utilize those they have. Muna A. Abdalla was born in August 1966 in Khartoum, the Capital of Sudan. After completing primary and secondary education in Sudan, she pursued her university education in Egypt, University of Zagazig, where she obtained her BSC in Science and Education. In 1989 she obtained an Advanced Diploma in Development and Adult Education, Post Graduate College, University of Khartoum, then a M.Ed. in Education, University of Manchester, UK, 1991. She worked as consultant/researcher on Africa's development challenges, poverty, gender and capacity building issues with ILO, OSSREA and the Ford Foundation in different countries. She coordinated and assisted in implementing and managing projects for UNECEF in Sudan, and worked for the Sudan Broadcasting Services and DPMF in Ethiopia.