Trigeminal neuralgia and persistent trigeminal artery

We report a case of trigeminal neuralgia caused by persistent trigeminal artery (PTA) associated with asymptomatic left temporal cavernoma. Our patient presented unstable blood hypertension and the pain of typical trigeminal neuralgia over the second and third divisions of the nerve in the right side of the face. The attacks were often precipitated during physical exertion. MRI and Angio-MRI revealed the persistent carotid basilar anastomosis and occasionally left parietal cavernoma. After drug treatment of blood hypertension, spontaneous recovery of neuralgia was observed and we planned surgical treatment of left temporal cavernoma

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

X-linked intellectual disability (XLID) is a clinically and genetically heterogeneous disorder. During the past two decades in excess of 100 X-chromosome ID genes have been identified. Yet, a large number of families mapping to the X-chromosome remained unresolved suggesting that more XLID genes or loci are yet to be identified. Here, we have investigated 405 unresolved families with XLID. We employed massively parallel sequencing of all X-chromosome exons in the index males. The majority of these males were previously tested negative for copy number variations and for mutations in a subset of known XLID genes by Sanger sequencing. In total, 745 X-chromosomal genes were screened. After stringent filtering, a total of 1297 non-recurrent exonic variants remained for prioritization. Co-segregation analysis of potential clinically relevant changes revealed that 80 families (20%) carried pathogenic variants in established XLID genes. In 19 families, we detected likely causative protein truncating and missense variants in 7 novel and validated XLID genes (CLCN4, CNKSR2, FRMPD4, KLHL15, LAS1L, RLIM and USP27X) and potentially deleterious variants in 2 novel candidate XLID genes (CDK16 and TAF1). We show that the CLCN4 and CNKSR2 variants impair protein functions as indicated by electrophysiological studies and altered differentiation of cultured primary neurons from Clcn4−/− mice or after mRNA knock-down. The newly identified and candidate XLID proteins belong to pathways and networks with established roles in cognitive function and intellectual disability in particular. We suggest that systematic sequencing of all X-chromosomal genes in a cohort of patients with genetic evidence for X-chromosome locus involvement may resolve up to 58% of Fragile X-negative cases

Chitin and Chitosan as Sources of Bio‐Based Building Blocks and Chemicals

Chitin and chitosan polymers are a valuable source of functional chemicals and materials. Chemical and/or enzymatic depolymerisation processes have been developed for the production of chitooligosaccharides (COS), N‐acetylglucosamine (GlcNAc) and glucosamine (GlcN), which have a wide variety of applications. New technologies are now emerging to convert chitin and its derivatives into platform chemicals. Chemical liquefaction of chitin can lead to bulk chemicals like acetic acid and platform chemicals like hydroxymethylfurfural (HMF) and amine‐containing monomers for polymers, in low yield. The monomers GlcNAc and GlcN can be converted into N‐containing HMF derivatives, opening a pathway for furan‐based monomers for polyamides. Selective catalytic oxidation of GlcN results in the production of D‐glucosaminic acid (DGA). This acid is a valuable building block for the synthesis of various amino acids for biomedical applications and bio‐based chiral polyamides. Further technological improvements are necessary to increase the selectivity and efficiency of reactions, particularly for the conversion of polymeric chitin and chitosan into building blocks.<br/