Search results for "Cohen"

Cohen Syndrome-Associated Cataract Is Explained by VPS13B Functions in Lens Homeostasis and Is Modified by Additional Genetic Factors

2020

International audience; Purpose: Cohen syndrome (CS) is a rare genetic disorder caused by variants of the VPS13B gene. CS patients are affected with a severe form of retinal dystrophy, and in several cases cataracts also develop. The purpose of this study was to investigate the mechanisms and risk factors for cataract in CS, as well as to report on cataract surgeries in CS patients.Methods: To understand how VPS13B is associated with visual impairments in CS, we generated the Vps13b∆Ex3/∆Ex3 mouse model. Mice from 1 to 3 months of age were followed by ophthalmoscopy and slit-lamp examinations. Phenotypes were investigated by histology, immunohistochemistry, and western blot. Literature anal…

2020

Determining disability prevalence is a growing area for population statistics, especially among young adolescents. The Washington Group on Disability Statistics is one source of reporting disabilities through functional difficulties. Yet, young adolescents self-reporting through this measure is in its infancy. The purpose of this study was to carry out an intra-rater test-retest reliability study on a modified set of items for self-reporting functional difficulties. Young adolescents (N = 74; boys = 64%; age M = 13.7, SD = 1.8) with special educational needs in Finland completed a self-reported version of the Child Functioning Module in a supervised classroom. The second administration took…

Reproducibility of the WHO histological criteria for the diagnosis of Philadelphia chromosome-negative myeloproliferative neoplasms

2014

This study, performed on behalf of the Italian Registry of Thrombocythaemias (Registro Italiano Trombocitemie), aimed to test the inter-observer reproducibility of the histological parameters proposed by the WHO classification for the diagnosis of the Philadelphia chromosome-negative myeloproliferative neoplasms. A series of 103 bone marrow biopsy samples of Philadelphia chromosome-negative myeloproliferative neoplasms consecutively collected in 2004 were classified according to the WHO criteria as follows: essential thrombocythaemia (n=34), primary myelofibrosis (n=44) and polycythaemia vera (n=25). Two independent groups of pathologists reviewed the bone marrow biopsies. The first group w…

Interexaminer reliability of low back pain assessment using the McKenzie method.

2002

STUDY DESIGN A test-retest design was used. OBJECTIVE To assess interexaminer reliability of the McKenzie method for performing clinical tests and classifying patients with low back pain. SUMMARY OF BACKGROUND DATA Clinical methods and tests classifying patients with nonspecific low back pain have been based mainly on symptom duration or extent of pain referral. The McKenzie mechanical diagnostic and classification approach is a widely used noninvasive, low-technology method of assessing patients with low back pain. However, little is known about the interexaminer reliability of the method, previous studies having yielded conflicting results. METHODS For this study, 39 volunteers with low b…

Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary toVPS13Bmutations

2013

Over one hundred VPS13B mutations are reported in Cohen syndrome (CS). Most cases exhibit a homogeneous phenotype that includes intellectual deficiency (ID), microcephaly, facial dysmorphism, slender extremities, truncal obesity, progressive chorioretinal dystrophy, and neutropenia. We report on a patient carrying two VPS13B splicing mutations with an atypical phenotype that included microcephaly, retinopathy, and congenital neutropenia, but neither obesity nor ID. RNA analysis of the IVS34+2T_+3AinsT mutation did not reveal any abnormal splice fragments but mRNA quantification showed a significant decrease in VPS13B expression. RNA sequencing analysis up- and downstream from the IVS57+2T>C…

Comparison of the planimetry and point-counting methods for the assessment of the size of the mandible cysts on orthopantomograms

2011

Sahin, Bunyamin/0000-0001-8538-8443 WOS: 000304343300015 PubMed: 22143725 Objective: The purpose of this study is to compare the computer-assisted planimetry and point-counting methods in evaluating the sizes of the mandibular cysts with respect to their agreement and the time required to analyze. Study Design: The surface areas of 46 mandibular cyst lesions on orthopantomograms were estimated using the point-counting and computer-assisted planimetry methods. Three observers evaluated the outlined areas twice, using the point-counting (PC) and computer-assisted planimetry (CAP) methods with an interval of two weeks. In the planimetry technique, digitalized images and ImageJ software were us…

S-Detect characterization of focal solid breast lesions: a prospective analysis of inter-reader agreement for US BI-RADS descriptors

2020

Background: To assess inter-reader agreement for US BI-RADS descriptors using S-Detect: a computer-guided decision-making software assisting in US morphologic analysis. Methods: 73 solid focal breast lesions (FBLs) (mean size: 15.9 mm) in 73 consecutive women (mean age: 51 years) detected at US were randomly and independently assessed according to the BI-RADS US lexicon, without and with S-Detect, by five independent reviewers. US-guided core-biopsy and 24-month follow-up were considered as standard of reference. Kappa statistics were calculated to assess inter-operator agreement, between the baseline and after S-Detect evaluation. Agreement was graded as poor (≤ 0.20), moderate (0.21–0.40)…

Is measurement of the gingival biotype reliable? Agreement among different assessment methods.

2019

Background To determine agreement among the most commonly used methods for assessing the gingival biotype. Material and Methods An electronic survey was sent to a sample of dentists practicing in Spain. The questionnaire was based on the evaluation of 5 cases involving different gingival biotype assessment methods. Dentists were required to classify the cases as having a “thin”, “thick” or “not able to classify” biotype. Each case was assessed using a frontal intraoral photo of the anterior teeth; an enlarged photo of the buccal aspect of the tooth with a periodontal probe inserted inside the sulcus; and the real thickness measured in mm with a calibrated needle. Agreement among the classif…

Statement validity assessment: Inter-rater reliability of criteria-based content analysis in the mock-crime paradigm

2005

Methods. Three raters were trained in CBCA. Subsequently, they analysed transcripts of 102 statements referring to a simulated theft of money. Some of the statements were based on experience and some were confabulated. The raters used 4-point scales, respectively, to judge the degree to which 18 of the 19 CBCA criteria were fulfilled in each statement. Results. The analysis of rater judgment distributions revealed that, with judgments of individual raters varying only slightly across transcripts, the weighted kappa coefficient, the product-moment correlation, and the intra-class correlation were inadequate indices of reliability. The Finn-coefficient and percentage agreement, which were cal…

The minimal free resolution of fat almost complete intersections in ℙ1 x ℙ1

2017

AbstractA current research theme is to compare symbolic powers of an ideal I with the regular powers of I. In this paper, we focus on the case where I = IX is an ideal deûning an almost complete intersection (ACI) set of points X in ℙ1 × ℙ1. In particular, we describe a minimal free bigraded resolution of a non-arithmetically Cohen-Macaulay (also non-homogeneous) set 𝒵 of fat points whose support is an ACI, generalizing an earlier result of Cooper et al. for homogeneous sets of triple points. We call 𝒵 a fat ACI.We also show that its symbolic and ordinary powers are equal, i.e, .