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Rare loss-of-function variants in ITSN1 were recently reported to confer a high risk for Parkinson’s disease (PD). From our local large exome sequencing dataset of PD cases, we identified five carriers from three families. Clinical features of ITSN1 -PD are typical and responsive to standard treatments. Additionally, we discuss whether ITSN1 loss-of-function variants should only be considered as a high-risk factor or a Mendelian PD gene.

A biallelic (AAGGG) expansion in the poly(A) tail of an AluSx3 transposable element within the gene RFC1 is a frequent cause of cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS), and more recently, has been reported as a rare cause of Parkinson’s disease (PD) in the Finnish population. Here, we investigate the prevalence of RFC1 (AAGGG) expansions in PD patients of non-Finnish European ancestry in 1609 individuals from the Parkinson’s Progression Markers Initiative study. We identified four PD patients carrying the biallelic RFC1 (AAGGG) expansion and did not identify any carriers in controls.

CREBBP truncating mutations and deletions are responsible for the well-known Rubinstein-Taybi syndrome. Recently, a new, distinct CREBBP-linked syndrome has been described: missense mutations located at the 3' end of exon 30 and the 5' portion of exon 31 induce Menke-Hennekam syndrome. Patients with this syndrome present a recognizable facial dysmorphism, intellectual disability of variable severity, microcephaly, short stature, autism, epilepsy, visual and hearing impairments, feeding problems, upper airway infections, scoliosis, and/or kyphosis. To date, all diagnoses were made postnatally. Trio-whole exome sequencing (WES) was performed in a fetus showing increased nuchal translucency persistence and aorta abnormalities at 28 weeks of gestation (WG). WES revealed a CREBBP de novo missense mutation (c.5602C>T; p.Arg1868Trp) in exon 31, previously reported as the cause of Menke-Hennekam syndrome. Termination of pregnancy was performed at 32 WG. We further reviewed the prenatal signs of Menke-Hennekam syndrome already reported. Among the 35 patients reported and diagnosed postnatally up to this day, 15 presented recognizable prenatal signs, the most frequent being intra-uterine growth retardation, brain, and cardiovascular anomalies. Menke-Hennekam is a rare syndrome with unspecific, heterogeneous, and inconstant prenatal symptoms occurring most frequently with the c.5602C>T, p.(Arg1868Trp) mutation. Therefore, the prenatal diagnosis of Menke-Hennekam syndrome is only possible by molecular investigation. Moreover, this case report and review reinforce the importance of performing prenatal WES when unspecific signs are present on imaging.

Biallelic variants in the ERLIN1 gene were recently reported as the cause of two motor neuron degeneration diseases, SPG62 and a recessive form of amyotrophic lateral sclerosis. However, only 12 individuals from five pedigrees have been identified so far. Thus, the description of the disease remains limited. Following the discovery of a homozygous pathogenic variant in a girl with SPG62, presenting with intellectual disability, and epilepsy, we gathered the largest series of SPG62 cases reported so far (13 individuals) to better understand the phenotype associated with ERLIN1. We collected molecular and clinical data for 13 individuals from six families with ERLIN1 biallelic variants. We performed RNA-seq analyses to characterize intronic variants and used Alphafold and a transcripts database to characterize the molecular consequences of the variants. We identified three new variants suspected to alter the bell-shaped ring formed by the ERLIN1/ERLIN2 complex. Affected individuals had childhood-onset paraparesis with slow progression. Six individuals presented with gait ataxia and three had superficial sensory loss. Aside from our proband, none had intellectual disability or epilepsy. Biallelic pathogenic ERLIN1 variants induce a rare, predominantly pure, spastic paraparesis, with possible cerebellar and peripheral nerve involvement.

Meningoencephalitis defines a pathological inflammation of the brain parenchyma and meninges classically dichotomised into infectious and non-infectious meningoencephalitides. Pyogranulomatous meningoencephalitides have been sporadically reported in the veterinary literature associated with various infectious agents (Mycobacteria species, Cladophialophora bantiana or Actinomyces species). The following outlines a case of pyogranulomatous meningoencephalitides suspected secondary to Aureimonas altamirensis infection. To the authors' knowledge, this is only the second report of A. altamirensis resulting in clinical disease in a dog.

Phosphonoformic acid, a pyrophosphate analog known as foscarnet, is increasingly used in the treatment of refractory cytomegalovirus retinitis. It is well established that a transient decrease in ionized serum calcium concentration is temporally related to foscarnet infusions without affecting total serum calcium or parathyroid hormone (PTH) levels. This decrease seems to be due to a complex formation between phosphonoformate and free calcium. On the other hand, more-persistent, often symptomatic hypocalcemia may also occur, but the pathophysiological events leading to the decrease in both total and ionized calcium remain controversial. It has been recently suggested that hypomagnesemia has a role in this decrease. We report herein the time course of serum calcium, magnesium, PTH, and 1,25 (OH) sub(2) vitamin D in a patient with AIDS who presented with unusual persistent hypocalcemia due to prolonged administration of foscarnet.

Micro and nanosystems represent a major scientific and technological challenge, with actual and potential applications in almost all fields of the human activity. The aim of the present book is to present how concepts from dynamical control systems (modeling, estimation, observation, identification, feedback control) can be adapted and applied to the development of original very small-scale systems and of their human interfaces. The application fields presented here come from micro and nanorobotics, biochips, near-field microscopy (AFM and STM) and nanosystems networks. Alina Voda has drawn contributions from leading experts at top research universities in France to produce a first overview of the major role that control systems science can play in the development of micro and nanosciences and technologies.

Reference and type strains of well-known bacteria have been a cornerstone of microbiology research for decades. The sharing of well-characterised isolates between laboratories has parallelised research efforts and enhanced the reproducibility of experiments, leading to a wealth of knowledge about trait variation in different species and the genetics that underpins it. Campylobacter jejuni strain NCTC11168, deposited at the National Collection of Type Cultures in 1977, has been widely adopted as a reference strain by researchers worldwide and was the first Campylobacter for which the complete genome was published (in 2000). In this study, we collected 23 C. jejuni NCTC11168 reference isolates from laboratories across the UK and compared variation in simple laboratory phenotypes with genetic variation in sequenced genomes. Putatively identical isolates previously identified to have aberrant phenotypes varied by up to 281 SNPs (in 15 genes) compared to the most recent reference strain. Isolates also display considerable phenotype variation in motility, morphology, growth at 37oC, invasion of chicken and human cell lines and susceptibility to ampicillin. This study provides evidence of ongoing evolutionary change among C. jejuni isolates as they are cultured in different laboratories and highlights the need for careful consideration of genetic variation within laboratory reference strains. Footnotes * https://www.ncbi.nlm.nih.gov/bioproject/PRJNA517467 * https://doi.org/10.6084/m9.figshare.7849268 * https://microreact.org/project/NCTC11168