Determination of normal splenic volume in relation to age, gender and body habitus: a stereological study on computed tomography

Background: The aim of this study is to assess and document the dimensions of the normal spleen measured on computed tomography (CT) images with the normal splenic volume measured by Cavalieri principle on CT images and thereby serve as a baseline for comparison in cases of splenomegaly using abdominal CT. To investigate the relationship between these changes and body mass index, gender, abdominal diameters.Materials and methods: We retrospectively reviewed abdominal CT examinations of 212 adults between the ages of 20 and 88 years. There were seven groups of patients. The spleen volume (SV) measurements using abdominal CT images of each patient on the Image Information Systems were performed with Cavalieri principle.Results: The mean SV and splenic length (SL), width (SW), and thickness (ST) for the total study population of 212 patients was 198 ± 88 cm3, 9.96 ± 2.1 cm, 8.87 ±± 1.6 cm and 4.58 ± 0.8 cm, respectively. There was a strong correlation between SV and ST (r = 0.752, p < 0.001), SL (r = 0.735, p < 0.001), SW (r = 0.681,p < 0.001) mean values of total study population. Comparison between mean splenic dimension parameters for males and females showed a statistically significant difference (p = 0.032 for SV, p = 0.04 for ST) but no statistically significant difference with SL and SW. Also there was a positive correlation between SV and body height, sagittal abdominal diameter and transvers abdominal diameter in mean of total groups and female groups, there was no correlation in males.Conclusions: The normal reference ranges for SV and size given in this study canserve as a standard to judge whether splenomegaly is present in patients

Deformed strings in the Heisenberg model

We investigate solutions to the Bethe equations for the isotropic S = 1/2 Heisenberg chain involving complex, string-like rapidity configurations of arbitrary length. Going beyond the traditional string hypothesis of undeformed strings, we describe a general procedure to construct eigenstates including strings with generic deformations, discuss general features of these solutions, and provide a number of explicit examples including complete solutions for all wavefunctions of short chains. We finally investigate some singular cases and show from simple symmetry arguments that their contribution to zero-temperature correlation functions vanishes.Comment: 34 pages, 13 figure

A rare benign disorder mimicking metastasis on radiographic examination: a case report of osteopoikilosis

Osteopoikilosis (OPK) is a rare, autosomal dominant bone disorder, characterized by multiple, discrete round or ovoid radio densities scattered throughout the axial and appendicular skeleton. OPK is usually asymptomatic but rarely there may be slight articular pain and joint effusions. OPK is generally diagnosed incidentally on radiographic examinations and may mimic different bone pathologies, including bone metastases. Radionuclide bone scan has a critical role in distinguishing OPK from osteoblastic bone metastases. In this case report, we present a young man with right hip pain due to OPK, whose plain radiogram and computerized tomography findings thought cancer metastasis

An action principle for Vasiliev's four-dimensional higher-spin gravity

We provide Vasiliev's fully nonlinear equations of motion for bosonic gauge fields in four spacetime dimensions with an action principle. We first extend Vasiliev's original system with differential forms in degrees higher than one. We then derive the resulting duality-extended equations of motion from a variational principle based on a generalized Hamiltonian sigma-model action. The generalized Hamiltonian contains two types of interaction freedoms: One set of functions that appears in the Q-structure of the generalized curvatures of the odd forms in the duality-extended system; and another set depending on the Lagrange multipliers, encoding a generalized Poisson structure, i.e. a set of polyvector fields of ranks two or higher in target space. We find that at least one of the two sets of interaction-freedom functions must be linear in order to ensure gauge invariance. We discuss consistent truncations to the minimal Type A and B models (with only even spins), spectral flows on-shell and provide boundary conditions on fields and gauge parameters that are compatible with the variational principle and that make the duality-extended system equivalent, on shell, to Vasiliev's original system.Comment: 37 pages. References added, corrected typo

TDP-43 loss of function inhibits endosomal trafficking and alters trophic signaling in neurons

Nuclear clearance of TDP-43 into cytoplasmic aggregates is a key driver of neurodegeneration in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD), but the mechanisms are unclear. Here, we show that TDP-43 knockdown specifically reduces the number and motility of RAB11-positive recycling endosomes in dendrites, while TDP-43 overexpression has the opposite effect. This is associated with delayed transferrin recycling in TDP-43-knockdown neurons and decreased 2-transferrin levels in patient CSF. Whole proteome quantification identified the upregulation of the ESCRT component VPS4B upon TDP-43 knockdown in neurons. Luciferase reporter assays and chromatin immunoprecipitation suggest that TDP-43 represses VPS4B transcription. Preventing VPS4B upregulation or expression of its functional antagonist ALIX restores trafficking of recycling endosomes. Proteomic analysis revealed the broad reduction in surface expression of key receptors upon TDP-43 knockdown, including ErbB4, the neuregulin 1 receptor. TDP-43 knockdown delays the surface delivery of ErbB4. ErbB4 overexpression, but not neuregulin 1 stimulation, prevents dendrite loss upon TDP-43 knockdown. Thus, impaired recycling of ErbB4 and other receptors to the cell surface may contribute to TDP-43-induced neurodegeneration by blocking trophic signaling

ACE I/D Gene Polymorphism Can't Predict the Steroid Responsiveness in Asian Children with Idiopathic Nephrotic Syndrome: A Meta-Analysis

The results from the published studies on the association between angiotensin-converting enzyme (ACE) insertion/deletion (I/D) gene polymorphism and the treatment response to steroid in Asian children with idiopathic nephrotic syndrome (INS) is still conflicting. This meta-analysis was performed to evaluate the relation between ACE I/D gene polymorphism and treatment response to steroid in Asian children and to explore whether ACE D allele or DD genotype could become a predictive marker for steroid responsiveness. = 0.85; respectively), however, the result for the association of II genotype with SRNS risk was not stable.Our results indicate that D allele or DD homozygous can't become a significant genetic molecular marker to predict the treatment response to steroid in Asian children with INS

Defect detection in textile fabric images using subband domain subspace analysis

In this work, a new model that combines the concepts of wavelet transformation and subspace analysis tools, like Independent Component Analysis, Topographic Independent Component Analysis, and Independent Subspace Analysis, is developed for the purpose of defect detection in textile images. In previous works, it has been shown that reduction of the textural components of the textile image by preprocessing has increased the performance of the system. Based on this observation, in present work, the aforementioned subspace analysis tools are aimed to be applied on the sub-band images. The feature vector of a sub-window of a test image is compared with that of the defect-free image in order to make a decision. This decision is based on a Euclidean distance classifier. The performance increase that results using wavelet transformation prior to subspace analysis has been discussed in detail. While all the subspace analysis methods has been found to lead to the same detection performances, as a further step, independent subspace analysis is used to classify the detected defects according to their directionalities

Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome

BACKGROUND AND OBJECTIVES: Steroid-resistant nephrotic syndrome overwhelmingly progresses to ESRD. More than 30 monogenic genes have been identified to cause steroid-resistant nephrotic syndrome. We previously detected causative mutations using targeted panel sequencing in 30% of patients with steroid-resistant nephrotic syndrome. Panel sequencing has a number of limitations when compared with whole exome sequencing. We employed whole exome sequencing to detect monogenic causes of steroid-resistant nephrotic syndrome in an international cohort of 300 families. DESIGN, SETTING, PARTIIPANTS AND MEASUREMENTS: Three hundred thirty-five individuals with steroid-resistant nephrotic syndrome from 300 families were recruited from April of 1998 to June of 2016. Age of onset was restricted to <25 years of age. Exome data were evaluated for 33 known monogenic steroid-resistant nephrotic syndrome genes. RESULTS: In 74 of 300 families (25%), we identified a causative mutation in one of 20 genes known to cause steroid-resistant nephrotic syndrome. In 11 families (3.7%), we detected a mutation in a gene that causes a phenocopy of steroid-resistant nephrotic syndrome. This is consistent with our previously published identification of mutations using a panel approach. We detected a causative mutation in a known steroid-resistant nephrotic syndrome gene in 38% of consanguineous families and in 13% of nonconsanguineous families, and 48% of children with congenital nephrotic syndrome. A total of 68 different mutations were detected in 20 of 33 steroid-resistant nephrotic syndrome genes. Fifteen of these mutations were novel. NPHS1, PLCE1, NPHS2, and SMARCAL1 were the most common genes in which we detected a mutation. In another 28% of families, we detected mutations in one or more candidate genes for steroid-resistant nephrotic syndrome. CONCLUSIONS: Whole exome sequencing is a sensitive approach toward diagnosis of monogenic causes of steroid-resistant nephrotic syndrome. A molecular genetic diagnosis of steroid-resistant nephrotic syndrome may have important consequences for the management of treatment and kidney transplantation in steroid-resistant nephrotic syndrome

Clinical Characteristics of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex.

Background: This study evaluated the characteristics of subependymal giant cell astrocytoma (SEGA) in patients with tuberous sclerosis complex (TSC) entered into the TuberOus SClerosis registry to increase disease Awareness (TOSCA). Methods: The study was conducted at 170 sites across 31 countries. Data from patients of any age with a documented clinical visit for TSC in the 12 months preceding enrollment or those newly diagnosed with TSC were entered. Results: SEGA were reported in 554 of 2,216 patients (25%). Median age at diagnosis of SEGA was 8 years (range, 18 years. SEGA were symptomatic in 42.1% of patients. Symptoms included increased seizure frequency (15.8%), behavioural disturbance (11.9%), and regression/loss of cognitive skills (9.9%), in addition to those typically associated with increased intracranial pressure. SEGA were significantly more frequent in patients with TSC2 compared to TSC1 variants (33.7 vs. 13.2 %, p < 0.0001). Main treatment modalities included surgery (59.6%) and mammalian target of rapamycin (mTOR) inhibitors (49%). Conclusions: Although SEGA diagnosis and growth typically occurs during childhood, SEGA can occur and grow in both infants and adults