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The genetic architecture of mitochondrial disease continues to expand and currently exceeds more than 350 disease-causing genes. Bi-allelic variants in RTN4IP1 , also known as Optic Atrophy-10 (OPA10), lead to early-onset recessive optic neuropathy, atrophy, and encephalopathy in the afflicted patients. The gene is known to encode a mitochondrial ubiquinol oxidoreductase that interacts with reticulon 4 and is thought to be a mitochondrial antioxidant NADPH oxidoreductase. Here, we describe two unrelated consanguineous families from the northern region of Saudi Arabia harboring a missense variant ( RTN4IP1 :NM_032730.5; c.475G

Background and Purpose: Hypomyelinating leukodystrophies are a heterogeneous group of genetic disorders with a wide spectrum of phenotypes and a high rate of genetically unsolved cases. Bi-allelic mutations in NKX6-2 were recently linked to spastic ataxia 8 with hypomyelinating leukodystrophy., Methods: Using a combination of homozygosity mapping, exome sequencing, and detailed clinical and neuroimaging assessment a series of new NKX6-2 mutations in a multicentre setting is described. Then, all reported NKX6-2 mutations and those identified in this study were combined and an in-depth analysis of NKX6-2-related disease spectrum was provided., Results: Eleven new cases from eight families of different ethnic backgrounds carrying compound heterozygous and homozygous pathogenic variants in NKX6-2 were identified, evidencing a high NKX6-2 mutation burden in the hypomyelinating leukodystrophy disease spectrum. Our data reveal a phenotype spectrum with neonatal onset, global psychomotor delay and worse prognosis at the severe end and a childhood onset with mainly motor phenotype at the milder end. The phenotypic and neuroimaging expression in NKX6-2 is described and it is shown that phenotypes with epilepsy in the absence of overt hypomyelination and diffuse hypomyelination without seizures can occur., Conclusions: NKX6-2 mutations should be considered in patients with autosomal recessive, very early onset of nystagmus, cerebellar ataxia with hypotonia that rapidly progresses to spasticity, particularly when associated with neuroimaging signs of hypomyelination. Therefore, it is recommended that NXK6-2 should be included in hypomyelinating leukodystrophy and spastic ataxia diagnostic panels., (© 2019 The Authors. European Journal of Neurology published by John Wiley & Sons Ltd on behalf of European Academy of Neurology.)

Background: To evaluate the antibiotic resistance patterns of uropathogens isolated from adult women with acute community-acquired (CA) uncomplicated cystitis., Results: Over a one-year period (May 2015-April 2016), the results of susceptibility testing of outpatient midstream urine samples from 5 different laboratories were prospectively evaluated. The study included only adult women with uncomplicated cystitis. The susceptibility testing in all laboratories was performed using the disk diffusion method with the VITEK-2 Compact system. The isolated uropathogens and their resistance to the tested antibiotics were evaluated. Out of 317 adult women with CA uncomplicated cystitis, 179 had a positive culture. The most commonly isolated organism was Escherichia coli (E. coli) (70.4%), followed by Klebsiella (21.2%). The overall resistance rate was highest for ampicillin (85.6%), followed by cefalotin (56.3%), trimethoprim/sulfamethoxazole (54.7%), pipracillin (51.9%), nitrofurantoin (48.8%) and aztreonam (47.4%). Isolated E. coli strains were commonly resistant to ampicillin (80.5%), trimethoprim/sulfamethoxazole (72.2%) and aztreonam (71.4%), followed by cefalotin (55.9%). The overall ciprofloxacin resistance rate was 17.9%, and the resistent was found only with E. coli (25.4%)., Conclusions: Our results may aid in the selection of proper empiric antibiotic therapy for adult women with acute CA uncomplicated cystitis.

Iron-Sulfur Cluster (ISC) biogenesis is a vital cellular process required to produce various ISC-containing proteins. These ISC proteins are responsible for essential functions such as glycine cleavage and the formation of lipoic acid, an essential cofactor of respiratory chain complexes. Defects in ISC biogenesis lead to multiple mitochondrial dysfunction syndromes including: ISCA2 with infantile onset leukodystrophy. Recently, a founder mutation, c.229G > A, p.Gly77Ser in ISCA2 was reported to cause Multiple Mitochondrial Dysfunction Syndrome type 4. In a retrospective review of children diagnosed with the ISCA2 defect, we were able to identify ten new patients who were not reported previously with the identical founder mutation. High CSF glycine levels and elevated glycine peaks on MR spectroscopy were demonstrated in all tested probands. All patients were between 3 and 7 months of age with a triad of neurodevelopmental regression, nystagmus and optic atrophy and leukodystrophy. MRI findings were typical in the patients with diffuse, abnormal white matter signal in the cerebrum, cerebellum, brain stem and spinal cord. The patients ended up in a vegetative state, and often premature death due to respiratory infections. We alert clinicians to consider the ISCA2 defect as a differential diagnosis of infantile onset leukodystrophies affecting the brain as well as the spinal cord, especially in the presence of elevated CSF glycine or elevated glycine peaks in MR spectroscopy., (Copyright © 2017 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.)

The present work aimed at investigating the genetic diversity of the head louse Pediculus humanus capitis (P. humanus capitis) among infested primary school girls at Bisha governorate, Saudi Arabia, based on the sequence of mitochondrial cytochrome b (mt cyt b) gene of 121 P. humanus capitis adults. Additionally, the prevalence of pediculosis capitis was surveyed. The results of sequencing were compared with the sequence of human head lice that are genotyped previously. Phylogenetic tree analysis showed the presence of 100% identity (n = 26) of louse specimens with clade A (prevalent worldwide) of the GenBank data base. Louse individuals (n = 50) showed 99.8% similarity with the same clade A reference having a single base pair difference. Also, a number of 22 louse individuals revealed 99.8% identity with clade B reference (prevalent in North and Central Americas, Europe, and Australia) with individual diversity in two base pairs. Moreover, 14 louse individual sequences revealed 99.4% identity with three base pair differences. It was concluded that moderate pediculosis (~13%) prevailed among the female students of the primary schools. It was age-and hair texture (straight or curly)-dependent. P. humanus capitis prevalence diversity is of clades A and B genotyping.