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Severe Neurodevelopmental Disease Caused by a Homozygous TLK2 Variant
Abstract: A distinct neurodevelopmental phenotype characterised mainly by mild motor and language delay and facial dysmorphism, caused by heterozygous de novo or dominant variants in the TLK2 gene has recently been described. All cases reported carried either truncating variants located throughout the gene, or missense changes principally located at the C-terminal end of the protein mostly resulting in haploinsufficiency of TLK2. Through whole exome sequencing, we identified a homozygous missense variant in TLK2 in a patient showing more severe symptoms than those previously described, including cerebellar vermis hypoplasia and West syndrome. Both parents are heterozygous for the variant and clinically unaffected highlighting that recessive variants in TLK2 can also be disease causing and may act through a different pathomechanism
Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families
Abstract: Background: In 2009, we identified TACO1 as a novel mitochondrial disease gene in a single family, however no second family has been described to confirm the role of TACO1 in mitochondrial disease. Objective: In this report, we describe two independent consanguineous families carrying pathogenic variants in TACO1, confirming the phenotype. Methods: Detailed clinical investigations and whole exome sequencing with haplotype analysis have been performed in several members of the two reported families. Results: Clinical phenotype of the patients confirms the originally reported phenotype of a childhood-onset progressive cerebellar and pyramidal syndrome with optic atrophy and learning ...
Hydraulic Principles and Design Concepts for Submain Units with Multiple Outlet Pipelines
This book provides a state-of-the-art review of recent analytical developments on multi-outlets pipe flow hydraulics and alternative hydraulic design concepts. For this purpose, the book presents simple, but sufficiently accurate analytical equations, that can be applied directly without needing any numerical technique to achieve whole hydraulic computations. The analytical procedures explained here give an opportunity for designers to better understand the basic hydraulic principles of multi-outlet pipe flow, and demonstrate their applicability and efficiency to design problems of multi-outlet sub-main lines, covering various design configurations.
The Poets Society
He jumped from his improvised bed and looked up. The sky parted in two as if it was endeavouring to mirror his life. Neither the sky nor his life was ever a compact piece of peace since he had known about his being. Miaow...miaow...miaow...miaow. Was he awake, or dreaming? In the heart of the resplendent Balkans, a land forged by relentless wars yet always welcoming those in need, a destitute wanderer finds solace. But this is not a tale that unfolds in ordinary fashion, for the human experience is a tapestry of contrasts. Within the pages of this extraordinary journey, a tapestry interwoven with melancholic humour and bittersweet poignancy, lie the unheard voices of characters yearning to be heard. As if borne upon the wings of a time-travelling vessel, traversing lands and ages, the enigmatic Atom Butterfly stumbles upon an unassuming soul named Sevda, whose presence unexpectedly illuminates his existence. And so, their story commences – a tale of reminiscence, where childhood revisited unveils the battles fought during times of scarcity, when satisfaction eluded their grasp, and yet resilience prevailed.
I Was a Muslim Then I Found Truth
An amazing miraculous transforming journey through faith, hope and restoration.
