Search

We study the magnetic activity in the ultrafast rotator dMe HK Aqr using tomography techniques with high-resolution spectroscopy. We aim to characterize how this magnetic activity appears in a regime of very fast rotation without external forces, given that HK Aqr is, very likely, a single star. We find dark spots located at low latitudes. We also detect prominences below the co-rotation radius and at low latitudes, coinciding with the spot latitudes. This apparent low-latitude activity contrasts with what is typically observed in fast rotators, which tend to form large polar spots. Moreover, we detect a stellar flare that produces an enhancement of the continuum and additional emission in the core of most photospheric and chromospheric lines. We find evidence that the flare is ignited above an active region, as seen in solar flares. This means that, with high probability, the flare is initiated by magnetic reconnection in complex active regions. We also present evidence of bulk redshifted velocities of about 15 km s−1 during the rise of the flare, and velocities of 5–10 km s−1 during the decay phase. An estimation of the heating during the flare results in about 200 kK close to the peak and in 100 kK at the end of the observations.

The importance of the quiet-Sun magnetism is that it is always there to a greater or lesser extent, being a constant provider of energy, independently of the solar cycle phase. The open questions about the quiet-Sun magnetism include those related to its origin. Most people claim that the local dynamo action is the mechanism that causes it. This fact would imply that the quiet-Sun magnetism is nearly the same at any location over the solar surface and at any time. Many works claim that the quiet Sun does not have any variation at all, although a few of them raise doubt on this claim and find mild evidence of a cyclic variation in the the quiet-Sun magnetism. In this work, we detect clear variations in the internetwork magnetism both with latitude and solar cycle. In terms of latitude, we find an increase in the averaged magnetic fields toward the solar poles. We also find long-term variations in the averaged magnetic field at the disk center and solar poles, and both variations are almost anticorrelated. These findings do not support the idea that the local dynamo action is the unique factory of the quiet-Sun magnetism., Comment: 8 pages, 4 figures, 1 table

26 páginas, 4 figuras, 3 tablas, Our clinical series comprises 124 patients with movement disorders (MDs) and/or ataxia with cerebellar atrophy (CA), many of them showing signs of neurodegeneration with brain iron accumulation (NBIA). Ten NBIA genes are accepted, although isolated cases compatible with abnormal brain iron deposits are known. The patients were evaluated using standardised clinical assessments of ataxia and MDs. First, NBIA genes were analysed by Sanger sequencing and 59 patients achieved a diagnosis, including the detection of the founder mutation PANK2 p.T528M in Romani people. Then, we used a custom panel MovDisord and/or exome sequencing; 29 cases were solved with a great genetic heterogeneity (34 different mutations in 23 genes). Three patients presented brain iron deposits with Fe-sensitive MRI sequences and mutations in FBXO7, GLB1, and KIF1A, suggesting an NBIA-like phenotype. Eleven patients showed very early-onset ataxia and CA with cortical hyperintensities caused by mutations in ITPR1, KIF1A, SPTBN2, PLA2G6, PMPCA, and PRDX3. The novel variants were investigated by structural modelling, luciferase analysis, transcript/minigenes studies, or immunofluorescence assays. Our findings expand the phenotypes and the genetics of MDs and ataxias with early-onset CA and cortical hyperintensities and highlight that the abnormal brain iron accumulation or early cerebellar gliosis may resembling an NBIA phenotype., This work was supported by the Instituto de Salud Carlos III (ISCIII)—Subdirección General de Evaluación y Fomento de la Investigación within the framework of the National R + D+I Plan co-funded with European Regional Development Funds (ERDF) [Grants PI18/00147 and PI21/00103 to CE]; the Fundació La Marató TV3 [Grants 20143130 and 20143131 to BPD and CE]; and by the Generalitat Valenciana [Grant PROMETEO/2018/135 to CE]. Part of the equipment employed in this work was funded by Generalitat Valenciana and co-financed with ERDF (OP ERDF of Comunitat Valenciana 2014–2020). PS had an FPU-PhD fellowship funded by the Spanish Ministry of Education, Culture and Sport [FPU15/00964]. IH has a PFIS-PhD fellowship [FI19/00072]. ASM has a contract funded by the Spanish Foundation Per Amor a l’Art (FPAA)

The EARS2 nuclear gene encodes mitochondrial glutamyl-tRNA synthetase, a member of the class I family of aminoacyl-tRNA synthetases (aaRSs) that plays a crucial role in mitochondrial protein biosynthesis by catalyzing the charging of glutamate to mitochondrial tRNA(Glu). Pathogenic EARS2 variants have been associated with a rare mitochondrial disorder known as leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL). The targeted sequencing of 150 nuclear genes encoding respiratory chain complex subunits and proteins implicated in the oxidative phosphorylation (OXPHOS) function was performed. The oxygen consumption rate (OCR), and the extracellular acidification rate (ECAR), were measured. The enzymatic activities of Complexes I-V were analyzed spectrophotometrically. We describe a patient carrying two heterozygous EARS2 variants, c.376C>T (p.Gln126*) and c.670G>A (p.Gly224Ser), with infantile-onset disease and a severe clinical presentation. We demonstrate a clear defect in mitochondrial function in the patient’s fibroblasts, suggesting the molecular mechanism underlying the pathogenicity of these EARS2 variants. Experimental validation using patient-derived fibroblasts allowed an accurate characterization of the disease-causing variants, and by comparing our patient’s clinical presentation with that of previously reported cases, new clinical and radiological features of LTBL were identified, expanding the clinical spectrum of this disease.

The EARS2 nuclear gene encodes mitochondrial glutamyl-tRNA synthetase, a member of the class I family of aminoacyl-tRNA synthetases (aaRSs) that plays a crucial role in mitochondrial protein biosynthesis by catalyzing the charging of glutamate to mitochondrial tRNA(Glu). Pathogenic EARS2 variants have been associated with a rare mitochondrial disorder known as leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL). The targeted sequencing of 150 nuclear genes encoding respiratory chain complex subunits and proteins implicated in the oxidative phosphorylation (OXPHOS) function was performed. The oxygen consumption rate (OCR), and the extracellular acidification rate (ECAR), were measured. The enzymatic activities of Complexes I-V were analyzed spectrophotometrically. We describe a patient carrying two heterozygous EARS2 variants, c.376C&gt, T (p.Gln126*) and c.670G&gt, A (p.Gly224Ser), with infantile-onset disease and a severe clinical presentation. We demonstrate a clear defect in mitochondrial function in the patient&rsquo, s fibroblasts, suggesting the molecular mechanism underlying the pathogenicity of these EARS2 variants. Experimental validation using patient-derived fibroblasts allowed an accurate characterization of the disease-causing variants, and by comparing our patient&rsquo, s clinical presentation with that of previously reported cases, new clinical and radiological features of LTBL were identified, expanding the clinical spectrum of this disease.

Introduction Mutations in the titin gene (TTN) are related to a wide spectrum of disease. In recent years, congenital titinopathy has emerged as a cause of severe early onset myopathy. Case report A case of two female sisters born at 32 weeks of gestation by cesarean section, from a non-consanguineous, healthy couple. They had normal prenatal ultrasounds except from equinovarus foot in one twin. Apgar score was low at birth (6–10 at 1 and 5 min in both). Both girls needed ventilator support because of respiratory insufficiency, severe axial hypotonia, multiple joint contractures distal and proximal and multiple long bone fractures. Chromosomopathy and osteogenesis imperfect were ruled out in the Genetic unit of our institution. Cardiological studies were normal. The neurographic study performed at two months of life showed extremely low amplitudes of the CMAPs with normal conduction velocities and relative preservation of the SNAPs, without clear myopathic features or spontaneous activity in the needle EMG. The whole exome sequencing (GenExComplete) revealed two extremely rare mutations in the titin gene, only expressed in the fetal skeletal transcript of TTN. One of the twins died at 8 months of age from pneumonia and the other baby needs mechanical ventilation for life support to date. Conclusions In a case of severe congenital myopathy without cardiac involvement, it is essential to consider the global clinical context. Although very rare, mutations in the fetal skeletal transcript of TTN should be excluded.

BACKGROUND: Herpes simplex encephalitis can trigger autoimmune encephalitis that leads to neurological worsening. We aimed to assess the frequency, symptoms, risk factors, and outcomes of this complication. METHODS: We did a prospective observational study and retrospective analysis. In the prospective observational part of this study, we included patients with herpes simplex encephalitis diagnosed by neurologists, paediatricians, or infectious disease specialists in 19 secondary and tertiary Spanish centres (Cohort A). Outpatient follow-up was at 2, 6, and 12 months from onset of herpes simplex encephalitis. We studied another group of patients retrospectively, when they developed autoimmune encephalitis after herpes simplex encephalitis (Cohort B). We compared demographics and clinical features of patients who developed autoimmune encephalitis with those who did not, and in patients who developed autoimmune encephalitis we compared these features by age group (patients =4 years compared with patients >4 years). We also used multivariable binary logistic regression models to assess risk factors for autoimmune encephalitis after herpes simplex encephalitis. FINDINGS: Between Jan 1, 2014, and Oct 31, 2017, 54 patients with herpes simplex encephalitis were recruited to Cohort A, and 51 were included in the analysis (median age 50 years [IQR 5-68]). At onset of herpes simplex encephalitis, none of the 51 patients had antibodies to neuronal antigens; during follow-up, 14 (27%) patients developed autoimmune encephalitis and all 14 (100%) had neuronal antibodies (nine [64%] had NMDA receptor [NMDAR] antibodies and five [36%] had other antibodies) at or before onset of symptoms. The other 37 patients did not develop autoimmune encephalitis, although 11 (30%) developed antibodies (n=3 to NMDAR, n=8 to unknown antigens; p

Herpes simplex encephalitis is the most common form of sporadic viral encephalitis. It may occur at any age, giving rise to a syndrome with a high morbidity and mortality. Its presentation may be atypical, and the initial complementary investigations nonspecific, making early diagnosis difficult and thus worsening its prognosis. This report describes four infants with herpes encephalitis presenting with an opercular syndrome that left significant sequelae after the acute episode. The opercular syndrome is characterized clinically by a disturbance of voluntary control of the facio-linguo-glosso-pharyngeal muscles, affecting speech and swallowing. Recognition of the opercular syndrome as a form of presentation of herpes encephalitis enables early diagnosis to be made in these patients, with the rapid initiation of treatment with acyclovir, improving the clinical course.