Search

Progressive encephalomyelitis with rigidity and myoclonus (PERM) is a relapsing–remitting neurological disorder that falls within the stiff person syndrome–spectrum disorders. We report a 16-year-old girl with PERM associated with an anti-glutamic acid decarboxylase (GAD) antibody. She had an aggressive initial presentation mimicking fulminant septic shock, followed by truncal and lower limb rigidity, stimulus-sensitive spasm, cognitive impairment, brainstem signs (hyperekplexia, nystagmus), and dysautonomia (urinary retention, constipation, facial flushing, blood pressure fluctuation). Cerebrospinal fluid, electroencephalography, and magnetic resonance imaging of the brain and spine showed features suggestive autoimmune encephalitis and myelitis. The serum anti-GAD antibody was positive, and the diagnosis of PERM was made. She had fluctuating clinical response despite intravenous immunoglobulin, steroids, plasmapheresis, and symptomatic medications. Eventually, in the fourth month since admission, she showed gradual and persistent clinical improvement after introducing rituximab. She was discharged after 6 months of hospitalization, and no relapse was observed in the first 3 years of follow-up. PERM is a rare and underrecognized condition in children. Contrary to previous reports, our case describes an aggressive and life-threatening presentation for PERM. Vague symptoms and the lack of gold diagnostic tests hinder a timely diagnosis. Our study also highlights the need for developing standardized diagnostic criteria and consensus in managing PERM. [ABSTRACT FROM AUTHOR]

Omicron generally causes milder disease than previous strains of severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2), especially in fully vaccinated individuals. However, incompletely vaccinated children may develop Omicron‐related complications such as those affecting the central nervous system. To characterize the spectrum of clinical manifestations of neuro‐COVID and to identify potential biomarkers associated with clinical outcomes, we recruited 15 children hospitalized for Omicron‐related neurological manifestations in three hospitals in Hong Kong (9 boys and 6 girls aged 1–13 years). All were unvaccinated or incompletely vaccinated. Fourteen (93.3%) were admitted for convulsion, including benign febrile seizure (n = 7), complex febrile seizure (n = 2), seizure with fever (n = 3), and recurrent breakthrough seizure (n = 2), and the remaining nonconvulsive patient developed encephalopathic state with impaired consciousness. None of the seven children with benign febrile seizure and six of eight children with other neurological manifestations had residual deficits at 9‐month follow‐up. SARS‐CoV‐2 RNA was undetectable in the cerebrospinal fluid (CSF) specimens of seven patients who underwent lumbar puncture. Spike‐and‐wave/sharp waves affecting the frontal lobes were detected in four of seven (57.1%) patients who underwent electroencephalogram. Children with Omicron‐related neurological manifestations had significantly higher blood levels of IL‐6 (p < 0.001) and CHI3L1 (p = 0.022) than healthy controls, and higher CSF levels of IL‐6 (p = 0.002) than children with non‐COVID‐19‐related febrile illnesses. Higher CSF‐to‐blood ratios of IL‐8 and CHI3L1 were associated with longer length of stay, whereas higher ratios of IL‐6 and IL‐8 were associated with higher blood tau level. The role of CSF:blood ratio of IL‐6, IL‐8, and CHI3L1 as prognostic markers for neuro–COVID should be further evaluated. [ABSTRACT FROM AUTHOR]

There is a lack of imaging markers revealing the functional characteristics of different brain regions in paediatric dystonia. In this observational study, we assessed the utility of [18F]2-fluoro-2-deoxy-D-glucose (FDG)-PET in understanding dystonia pathophysiology by revealing specific resting awake brain glucose metabolism patterns in different childhood dystonia subgroups. PET scans from 267 children with dystonia being evaluated for possible Deep Brain Stimulation (DBS) surgery between September 2007 and February 2018 at Evelina London Children's Hospital (ELCH) United Kingdom were examined. Scans without gross anatomical abnormality (e.g. large cysts, significant ventriculomegaly; n = 240) were analysed with Statistical Parametric Mapping (SPM12). Glucose metabolism patterns were examined in the 144/240 (60%) cases with the ten commonest childhood-onset dystonias, focusing on nine anatomical regions. A group of thirty-nine adult controls was used for comparisons. The genetic dystonias were associated with the following genes: TOR1A, THAP1, SGCE, KMT2B, HPRT1 (Lesch Nyhan disease), PANK2 and GCDH (Glutaric Aciduria type 1). The acquired Cerebral Palsy (CP) cases were divided into those related to prematurity (CP-Preterm), neonatal jaundice/kernicterus (CP-Kernicterus) and hypoxic-ischaemic encephalopathy (CP-Term). Each dystonia subgroup had distinct patterns of altered FDG-PET uptake. Focal glucose hypometabolism of the pallidi, putamina, or both, was the commonest finding, except in PANK2, where basal ganglia metabolism appeared normal. HPRT1 uniquely showed glucose hypometabolism across all nine cerebral regions. Temporal lobe glucose hypometabolism was found in KMT2B, HPRT1 and CP-Kernicterus. Frontal lobe hypometabolism was found in SGCE, HPRT1, and PANK2. Thalamic and brainstem hypometabolism were seen only in HPRT1, CP-Preterm and CP-term dystonia cases. The combination of frontal and parietal lobe hypermetabolism was uniquely found in CP-term cases. PANK2 cases showed a distinct combination of parietal hypermetabolism with cerebellar hypometabolism but intact putaminal-pallidal glucose metabolism. HPRT1, PANK2, CP-kernicterus and CP-preterm cases had cerebellar and insula glucose hypometabolism as well as parietal glucose hypermetabolism. The study findings offer insights into the pathophysiology of dystonia and support the network theory for dystonia pathogenesis. "Signature" patterns for each dystonia subgroup could be a useful biomarker to guide differential diagnosis and inform personalised management strategies. [ABSTRACT FROM AUTHOR]

A novel technique enables the synthesis of deoxyadenosine 5'- and 3'-dithiophosphate and thymidine 5'- and 3'-dithiophosphate. The technique couples deoxynucleoside H-phosphonodithioates and 9-fluorenemethanol in an oxidative environment, which yields 9-fluorenemethyl phosphoradithioates. Deprotection of 9-fluorenemethyl phosphoradithioates by ammonium hydroxide, followed by purification yields the dithiophosphates. In vitro studies on these compounds as inhibitor of enzyme activity for potential therapeutic use show no inhibitory effects.

Severe acute respiratory syndrome (SARS), a new contagious respiratory disease associated with a novel coronavirus, has spread worldwide and become a global health concern after its first outbreak in Guangdong Province of the People&apos;s Republic of China in November 2002. The clinical presentation and the radiologic, hematologic, biochemical and microbiologic findings of a 56-day-old male infant with SARS are described. Some clinical and laboratory features are similar to those reported in adult and pediatric patients. However, this infant had a more severe clinical course as compared with the older children. This is the youngest patient with symptomatic SARS reported to date. Pediatrics 2003;112:e257-e260. URL: http://www.pediatrics. org/cgi/content/full/112/4/e257; SARS, SARS-associated coronavirus, chest radiograph.

A Mg Mg2Ni nano-eutectic and MgO-reinforced Mg-bused metal matrix composite (Mg-MMC) was synthesized by in-sittu reactions. When :i Mg-rich sample containing 20wt% NiO is sintered at 420C. MgO. Ni and Mg2Ni are formed in the Mg matrix. When a sample molten at 550°C is furnace-cooled to room temperature, a lamellar two-phase Mg-Mg2Ni eutectic is formed, with the Mg2Ni lamella about 1.5μm thick. Proeutectic Mg together with the MgO formed in situ act as heterogeneous nuclei for the growth of the Mg-Mg2Ni eutectic. Quenching the molten sample to room temperature results in a lamellar two-phase eutectic containing Mg2Ni nanofibres. In the eutectic grown at the Mg grain, the Mg2Ni nanofibres with a diameter of about 25 nm are bent, whereas in the eutectic grown at the MgO grain, the Mg2Ni nanofibres with a diameter of about 30 nm are long and straight, while the Mg phase of this eutectic Is oxygen enriched. The differences in morphologies between the two Mg-Mg2Ni eutectics are ascribed to the growth rates of Mg and Mg2Ni. which differ in the eutectic grown at the Mg grain, but remain similar when growth takes place at the MgO grain. [ABSTRACT FROM AUTHOR]