Anti-SRP myositis: a diagnostic and therapeutic challenge.

Background: Anti-signal recognition protein (anti-SRP) myopathy is a rare idiopathic inflammatory myopathy in children. Herein, a 3-year-old patient with severe anti-SRP myopathy showing a rapidly progressive disease course is presented in order to increase the awareness of pediatricians about idiopathic inflammatory myopathies.

Case Presentation: A previously healthy 3-year-old girl presented with progressive symmetrical proximal muscle weakness that caused difficulty in climbing stairs for two months prior to evaluation, and a marked elevation of the serum creatine kinase levels.

Light-activated microtubule-based two-dimensional active nematic.

We assess the ability of two light responsive kinesin motor clusters to drive dynamics of microtubule-based active nematics: opto-K401, a processive motor, and opto-K365, a non-processive motor. Measurements reveal an order of magnitude improvement in the contrast of nematic flow speeds between maximally- and minimally-illuminated states for opto-K365 motors when compared to opto-K401 construct. For opto-K365 nematics, we characterize both the steady-state flow and defect density as a function of applied light.

A Case of Early Infantile Epileptic Encephalopathy Due to KCNQ2 Gene Mutation Presenting With Episodes of Hiccups.

Neonatal epilepsy syndromes are responsible for only 15% of the cases of neonatal seizure. An underlying genetic disorder can be detected in approximately 42% of this subgroup. KCNQ2 gene-associated epilepsies are very rare and more common presentations are self-limited familial neonatal epilepsy (SLFNE) and early infantile epileptic encephalopathies (EIEE).

A Case Report of a Prenatally Missed Mowat-Wilson Syndrome With Isolated Corpus Callosum Agenesis.

Mowat-Wilson syndrome (MWS) is an autosomal dominant genetic disorder caused by ZEB2 gene mutations, manifesting with unique facial characteristics, moderate to severe intellectual problems, and congenital malformations as Hirschsprung disease, genital and ophthalmological anomalies, and congenital cardiac anomalies. Herein, a case of 1-year-old boy with isolated agenesis of corpus callosum (IACC) in the prenatal period is presented. He was admitted postnatally with Hirschsprung disease (HSCR), hypertelorism, uplifted earlobes, deeply set eyes, frontal bossing, oval-shaped nasal tip, ''M'' shaped upper lip, opened mouth and prominent chin, and developmental delay.

Observation of Strongly Heterogeneous Dynamics at the Depinning Transition in a Colloidal Glass.

We study experimentally the origin of heterogeneous dynamics in strongly driven glass-forming systems. Thereto, we apply a well-defined force with a laser line trap on individual colloidal polystyrene probe particles seeded in an emulsion glass composed of droplets of the same size. Fluid and glass states can be probed.

Diffusing wave microrheology of highly scattering concentrated monodisperse emulsions.

Motivated by improvements in diffusing wave spectroscopy (DWS) for nonergodic, highly optically scattering soft matter and by cursory treatment of collective scattering effects in prior DWS microrheology experiments, we investigate the low-frequency plateau elastic shear moduli [Formula: see text] of concentrated, monodisperse, disordered oil-in-water emulsions as droplets jam. In such experiments, the droplets play dual roles both as optical probes and as the jammed objects that impart shear elasticity. Here, we demonstrate that collective scattering significantly affects DWS mean-square displacements (MSDs) in dense colloidal emulsions.

The liquid-glass-jamming transition in disordered ionic nanoemulsions.

In quenched disordered out-of-equilibrium many-body colloidal systems, there are important distinctions between the glass transition, which is related to the onset of nonergodicity and loss of low-frequency relaxations caused by crowding, and the jamming transition, which is related to the dramatic increase in elasticity of the system caused by the deformation of constituent objects. For softer repulsive interaction potentials, these two transitions become increasingly smeared together, so measuring a clear distinction between where the glass ends and where jamming begins becomes very difficult or even impossible. Here, we investigate droplet dynamics in concentrated silicone oil-in-water nanoemulsions using light scattering.

Deformation of the contact line around spherical particles bound at anisotropic fluid interfaces.

When a particle adsorbs at a liquid interface, the 3-phase contact line geometry depends on the shape of the particle and of the liquid interface. The shape of the contact line is the key to controlling capillary forces among particles, and is therefore a useful means to direct assembly of interfacial particles. We measured the shape of the contact line around millimeter-sized PDMS-coated glass spheres at water/air interfaces with anisotropic shapes.

Measured capillary forces on spheres at particle-laden interfaces.

We measure capillary forces on particles at fluid interfaces in order to assess the key parameters that yield effective stabilizing particles. In our experiments, a millimeter-scale particle is attached to a cantilever, which is used to pull the particle perpendicular to the interface. Simultaneously, we image from the side to measure the cantilever's deflection and thus the pulling force, as well as the height of the particle and the shape of the interface.

Effect of interface shape on advancing and receding fluid-contact angles around spherical particles.

The angle of contact between a solid surface and a fluid interface plays a key role in wetting and is therefore a focus in studies of a wide range of natural phenomena and fluidic technologies. The contact angle ranges between two values, a maximum (advancing) angle and a minimum (receding) angle. These limiting angles are thought to be properties of the fluids and of the chemistry or topography of the solid.

Atypical phenotypes of DYT1 dystonia in three children.

Unlabelled: DYT-1 dystonia is the most common primary dystonia seen in childhood. It is an autosomal dominantly inherited disorder caused by deletion of a GAG triplet in exon 5 of the DYT1 gene. It characteristically starts in a distal limb during late childhood, subsequently spreads to involve other body regions sparing oromandibular muscles.

Ocular findings in subacute sclerosing panencephalitis.

Purpose: The aim of this study was to evaluate the ocular manifestations of subacute sclerosing panencephalitis (SSPE) and to investigate possible risk factors in a relatively large series of patients.

Methods: In this prospective study, patients who were diagnosed with SSPE and had undergone ophthalmic examination were included.

Results: Of the 59 patients with SSPE, 25 (42.

Tau proteins in the cerebrospinal fluid of patients with subacute sclerosing panencephalitis.

Neurodegenerative diseases characterized by cytoskeletal deformation and neurofibrillary tangles are associated with altered levels of tau and related proteins in cerebrospinal fluid (CSF). Neuronal or glial fibrillary tangles have been shown in 20% of subacute sclerosing panencephalitis (SSPE) patients. We therefore investigated CSF samples from 60 newly diagnosed SSPE and 31 neurological control patients for total tau (t-tau), phosphorylated tau (p-tau), and S100-B levels by ELISA.

Cerebrospinal fluid nitric oxide levels in subacute sclerosing panencephalitis.

Oxidative damage plays a role in neurodegenerative diseases. Levels of cerebrospinal fluid nitrite and nitrate levels (oxidation products that provide an indirect estimation of nitric oxide) were investigated in relation to clinical and laboratory features in subacute sclerosing panencephalitis (n = 47) and age-matched control (n = 43) groups. Significantly decreased levels of nitrite (median, 4.

A rare cause of mental motor retardation: recessive congenital methemoglobinemia type II.

Recessive congenital methemoglobinemia (RCM) is a very rare disorder caused by NADH- cytochrome b5 reductase (cytb5r) deficiency. It has been classified into four types. Type I presents with mild cyanosis due to a significant deficiency of cytb5r in erythrocytes only.

Paroxysmal tonic upgaze presenting as a clinical isolated syndrome.

We report a 3.5-year-old boy with sudden onset of episodic upward deviation of the eyes that led to diagnosis of paroxysmal tonic upgaze. Cranial magnetic resonance imaging showed right-hand side dominant bilateral hyperintense lesions in the mesencephalon and the thalamus on T2-weighted images.

Assessment of citrullinated myelin by 1H-MR spectroscopy in early-onset multiple sclerosis.

Background And Purpose: Myelin instability and citrullinated myelin basic protein have been demonstrated in the brains of patients with chronic and fulminating forms of multiple sclerosis (MS). Our aim was to trace citrulline in the brains of patients with early-onset MS by using proton MR spectroscopy ((1)H-MR spectroscopy).

Materials And Methods: A short-echo single-voxel (1)H-MR spectroscopy by using the point-resolved proton spectroscopy sequence was performed in 27 patients with MS and 23 healthy subjects.

Attitudes of parents and physicians toward febrile seizures.

Objectives: Although febrile seizures are common in children, attitudes may change among parents. The management of a child may differ depending on the specialty of the attending physician. This study was carried out to analyze attitudes of Turkish parents and physicians toward febrile seizures.

Genetic and clinical heterogeneity in eIF2B-related disorder.

Eukaryotic initiation factor 2B (eIF2B)-related disorders are heritable white matter disorders with a variable clinical phenotype (including vanishing white matter disease and ovarioleukodystrophy) and an equally heterogeneous genotype. We report 9 novel mutations in the EIF2B genes in our subject population, increasing the number of known mutations to more than 120. Using homology modeling, we have analyzed the impact of novel mutations on the 5 subunits of the eIF2B protein.

Sinusitis in children and adolescents with chronic or recurrent headache: a case-control study.

The aim of this study was to determine the frequency of misdiagnosis of sinus headache in migraine and other primary headache types in the children and adolescents with chronic or recurrent headaches. Children with chronic or recurrent headaches (n = 310) were prospectively evaluated. Data collection for each patient included history of previously diagnosed sinusitis due to headache, and additional sinusitis complaints (such as fever, cough, nasal discharge, postnasal discharge) at the time of sinusitis diagnosis, and improvement of the headache following treatment of sinusitis.