Estimated Pulse Wave Velocity and All-Cause and Cardiovascular Mortality in the General Population.

Carotid-femoral pulse wave velocity (cfPWV), acknowledged as a reliable proxy of arterial stiffness, is an independent predictor of cardiovascular (CV) events. Carotid-femoral PWV is considered the gold standard for the estimation of arterial stiffness. cfPWV is a demanding, time consuming and expensive method, and an estimated PWV (ePWV) has been suggested as an alternative method when cfPWV is not available.

Analysis of the Human Protein Atlas Weakly Supervised Single-Cell Classification competition.

While spatial proteomics by fluorescence imaging has quickly become an essential discovery tool for researchers, fast and scalable methods to classify and embed single-cell protein distributions in such images are lacking. Here, we present the design and analysis of the results from the competition Human Protein Atlas - Single-Cell Classification hosted on the Kaggle platform. This represents a crowd-sourced competition to develop machine learning models trained on limited annotations to label single-cell protein patterns in fluorescent images.

Analysis of the Phenotypes in the Rett Networked Database.

Rett spectrum disorder is a progressive neurological disease and the most common genetic cause of intellectual disability in females. is the major causative gene. In addition, and mutations have been reported in Rett patients, especially with the atypical presentation.

Megalencephalic leukoencephalopathy with subcortical cysts: Characterization of disease variants.

Objective: To provide an overview of clinical and MRI characteristics of the different variants of the leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts (MLC) and identify possible differentiating features.

Methods: We performed an international multi-institutional, cross-sectional observational study of the clinical and MRI characteristics in patients with genetically confirmed MLC. Clinical information was obtained by questionnaires for physicians and retrospective chart review.

Clinical features of cerebral palsy in children with symptomatic congenital cytomegalovirus infection.

Background: Human cytomegalovirus is the most common cause of vertically transmitted viral infection, affecting around 1% of liveborns. Infection is symptomatic in nearly 10% of infected children who are at higher risk of development of severe neurological disorders, including cerebral palsy.

Aims: To study the clinical profile of children with cerebral palsy caused by symptomatic congenital cytomegalovirus infection in a multicenter study involving six countries from the Surveillance of Cerebral Palsy in Europe (SCPE) Network.

Evolutive leukoencephalopathy in congenital cytomegalovirus infection.

Congenital cytomegalovirus infection is the most common infectious cause of congenital brain injury. Type and severity of congenital cytomegalovirus infection-related brain abnormalities depend on the developmental stage of the central nervous system at the time of fetal infection. The aim of this study was to follow the course of leukoencephalopathy in a patient with congenital cytomegalovirus infection.

Functional vision in children with perinatal brain damage.

Unlabelled: Many authors have discussed the effects of visual stimulations on visual functions, but there is no research about the effects on using vision in everyday activities (i.e. functional vision).

Neuropsychological development in preschool children born with asymmetrical intrauterine growth restriction and impact of postnatal head growth.

Neuropsychological development and the impact of postnatal head growth were studied in preschool children with asymmetrical intrauterine growth restriction. Examinees born at term with a birth weight below the 10th percentile were matched to the control group according to chronological and gestational age, gender, and maternal education. Fifty children were in each group, with a mean age of 6 years, 4 months.

Malformations of cortical development in children with congenital cytomegalovirus infection - A study of nine children with proven congenital cytomegalovirus infection.

Congenital cytomegalovirus (CMV) infection is the most common vertically transmitted disease with the rate of the infection ranging from 0.2 to 2.4% in newborn infants.

Infantile spasms in children with Down syndrome.

Down syndrome (DS) is the most common genetic cause of mental retardation. It is estimated that 5-13% of persons affected by DS have seizures. Infantile spasms are the most common type of seizures and usually are well controlled with steroids and antiepileptic drugs.

[Diagnostic procedures in pediatric migraine].

The "gold standard" in the diagnosis of pediatric migraine includes personal history, clinical and neurological examination. Many important data on previous morbidity, psychosocial status and recent sickness (today's headache) can be found by using an interview, "face to face", or by "headache diary". On clinical examination, it is important to pay due attention to cardiovascular and respiratory systems as well as to examination of the skin.

Cranial ultrasonography in the evaluation of macrocrania in infancy.

Cranial ultrasonography was used in the initial evaluation of 40 infants with macrocrania. Three of the infants had normal findings. The other 37 had evidence of various types of abnormality: intraventricular obstructive hydrocephalus, external hydrocephalus, arrested hydrocephalus with atrophy, or mild ventriculomegaly.

[Computerized tomography and ultrasound in the early diagnosis of brain damage].

Eighty-one neonates were evaluated clinically by ultrasound and/or CT with the aim of assessing diagnostic possibilities of both methods in the cases of pathomorphologic findings linked with perinatal risk factors and subsequent neurologic deficits. In perinatal at-risk infants (N = 11), premature infants (N = 6) and term infants (N = 5) ultrasound is a reliable diagnostic method in the detection and follow-up of intraventricular hemorrhage and perivascular leukomalacia in preterm infants, while for the diagnosis of hypoxic-ischemic lesions, especially focal cortico-subcortical changes in term infants, besides ultrasound it is necessary to perform CT. In perinatal infants (N = 50) with neurologic deficits at the age of 2-5 years, on CT scanning, atrophic changes were found in 50% of cases, while in 10% vascular lesions were observed, and a combination of atrophic and vascular lesions was found in 28% of the cases examined.

Ultrasonography in hereditary degenerative diseases of the cerebral white matter in infancy.

Ultrasonography of the brain, performed on two female infants who were clinically suspected of having leukodystrophy, demonstrated markedly increased echoes in the periventricular regions bilaterally and indistinct visualization of sulci and gyri on sagittal and coronal scans. The same sonographic features present on subsequent US examinations corresponded to progressive low density areas and atrophy on CT scans. Increased periventricular echogenicity which shows no evolution, in a clinical context, may contribute to the early recognition of neurodegenerative disorders affecting white matter.

Cortical heterotopia in Aicardi's syndrome--CT findings.

A case of 5-month-old female infant with Aicardi's syndrome is presented. The main clinical features were severe developmental retardation and intractable epileptic seizures. Ophthalmoscopic examination revealed pathognomonic chorioretinopathy.