ObjectivesThe aim of this study was to evaluate the psychometric performance patient- and parent-reported measures in International Consortium for Health Outcomes Measurement (ICHOM) Standard Set Cleft Care, identify ways improving concept coverage.MethodsData from 714 patients with cleft lip and/or palate, aged 8 9, 10 12.5, 22 years were collected between November 2015 April 2019 at Erasmus U...

craniofacial  anomalies  include  clefts,  synostoses,  atrophic  abnormalities,neoplasias etc. among which cleft lip and/or palate caused by abnormal facial development during gestation is one of the most prevalent congenital defects. its overall occurrence is about 1:700 ranging from 0.02 to 4.04 in 1000 live births. there are different etiologic factors considering the cleft cause. in most c...

The crystal structure of a conserved hypothetical protein, Aq1575, from Aquifex aeolicus has been determined by using x-ray crystallography. The protein belongs to the domain of unknown function DUF28 in the Pfam and PALI databases for which there was no structural information available until now. A structural homology search with the DALI algorithm indicates that this protein has a new fold wi...

The Ndc80 complex, a kinetochore component conserved from yeast to humans, is essential for proper chromosome alignment and segregation during mitosis. It is an approximately 570 A long, rod-shaped assembly of four proteins--Ndc80p (Hec1), Nuf2p, Spc24p, and Spc25p--with globular regions at either end of a central shaft. The complex bridges from the centromere-proximal inner kinetochore layer a...

A 78-year-old man presented with dyspnea and suffered from acute decompensated heart failure complicated by cardiogenic shock during intra-aortic balloon pump (IABP) support. He had a medical history of dilated cardiomyopathy with moderate systolic dysfunction (left ventricular ejection fraction 30%) and severe functional mitral regurgitation (MR). Three-dimensional transesophageal echocardiogr...

We report here the crystal structure of the RuvB motor protein from Thermus thermophilus HB8, which drives branch migration of the Holliday junction during homologous recombination. RuvB has a crescent-like architecture consisting of three consecutive domains, the first two of which are involved in ATP binding and hydrolysis. DNA is likely to interact with a large basic cleft, which encompasses...

(2001) Genetic heterogeneity and exclusion of a modifying locus at 17p11.2-p11.1 in Finnish families with van der Woude syndrome. (2001) Mapping of the second locus for the Van der Woude syndrome to chromosome 1p34. (2003) Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia. (2003) Linkage and linkage disequilibrium searched between non-syndromic cleft ...

background oral cleft is the most common orofacial congenital anomaly among live births. this anomaly at birth is one of the main causes of children disability and mortality.  congenital heart disease (chd) is one of the most common anomalies in oral clefts.  this study aimed to assess the incidence of congenital heart diseases anomalies in newborns with oral clefts. materials and methods this ...

purpose: to report a case of hypotonous maculopathy after blunt trauma and its treatment. patient and findings: a 34-year-old woman presented with decreased visual acuity in her left eye following blunt trauma. right eye examination was unremarkable, but visual acuity of left eye was counting fingers. slit lamp biomicroscopy of the left eye was within normal limits, but on funduscopy, papilloma...