Speech tempo in Hungarian speaking children and adolescents: The effects of age and speaking tasks.

This paper provides new data on speech tempo in typically developing Hungarian-speaking children and adolescents obtained in three different speaking contexts and analyzed using an extended set of temporal measures. We asked whether the expected developmental trend across four age levels (6, 9, 13, and 17 years) was equally reflected in children's speech rate, articulation rate, and pausing (frequency, duration, and proportion of pauses), and how their speech tempo was modulated by the cognitive demands of different speaking tasks (spontaneous narratives, story retellings, and story generations). We found a systematic incremental increase in speech rate and articulation rate with each higher age level, but the corresponding decrease in the frequency, duration, and proportion of pauses was less systematic.

Epidemiologic aspects of shoulder dystocia-related neurological birth injuries.

Purpose: The first part of the study involved data collection for the detection of geographic variations and chronologic fluctuations in the rates of shoulder dystocia. The second part of the research evaluated head-to-body delivery times in cases of arrest of the shoulders at birth that had resulted in fetal damage during the last four decades in the USA.

Methods: The study of geographic and chronologic changes in the rates of shoulder dystocia rested on reported statistics coming from the USA and 11 other countries.

Genetic variation in ALCAM and other chromosomal instability genes in breast cancer survival.

Chromosomal instability is a hallmark of many cancers and it has a potential to predict clinical outcome of a cancer patient. We hypothesized that genes whose expression status differs between chromosomal stable and unstable breast tumors represent target genes for the identification of genetic variants predicting breast cancer (BC) risk, disease progression, and survival. We used a published list of 38 genes associated with chromosomal instability as a basis for searching potentially functional and informative tagging single nucleotide polymorphisms (SNPs).

Genetic variation in genes encoding for polymerase ζ subunits associates with breast cancer risk, tumour characteristics and survival.

Chromosomal instability is a known hallmark of many cancers. DNA polymerases represent a group of enzymes that are involved in the mechanism of chromosomal instability as they have a central function in DNA metabolism. We hypothesized that genetic variation in the polymerase genes may affect gene expression or protein configuration and by that cancer risk and clinical outcome.

Polymorphisms in telomere-associated genes, breast cancer susceptibility and prognosis.

Telomeres are essential structures for maintaining chromosomal stability and their length has been reported to correlate with cancer risk and clinical outcome. Single nucleotide polymorphisms (SNPs) in genes encoding telomere-associated proteins could affect telomere length and chromosomal stability by influencing gene expression or protein configuration in the telomeres. Here, we report the results of the first association study on genetic variation in telomere-associated genes and their effect on telomere length, breast cancer (BC) susceptibility and prognosis.

A functional promoter polymorphism in the TERT gene does not affect inherited susceptibility to breast cancer.

Telomere dysfunction is a key mechanism in cancer development. The human telomerase reverse transcriptase (TERT) is the rate-limiting catalytic subunit of the telomerase enzyme, which is necessary for the maintenance of telomere DNA length, chromosomal stability, and cellular immortality. In our attempt to identify functional polymorphisms in the TERT gene and their effect on breast cancer risk, we sequenced the promoter of the gene and identified three single nucleotide polymorphisms (SNPs) with a frequency of at least 10%.

Prenatally diagnosed fetal brain injuries with known antenatal etiologies.

Periventricular leukomalacia of pre- or postnatal onset is responsible for severe neurological and intellectual impairment and cerebral palsy later in life. The etiology is multifactorial, involving hypoxic-ischemic insults of various origin. The disorder is characterized by multiple necrotic foci of the white matter found most frequently adjacent to the lateral ventricles.

Shoulder dystocia related fetal neurological injuries: the predisposing roles of forceps and ventouse extractions.

On the basis of 333 documented cases of permanent perinatal neurological damage, associated with arrest of the shoulders at birth, the authors conducted a retrospective study in order to evaluate the predisposing role, if any, of the utilization of extraction instruments. The investigation revealed that 35% of all injuries occurred in neonates delivered by forceps, ventouse or sequential ventouse-forceps procedures. This frequency was several-fold higher than the prevailing instrument use in the practices of American obstetricians during the same years.

The risk of shoulder dystocia related permanent fetal injury in relation to birth weight.

Objective: To examine birth weight related risks of fetal injury in connection with shoulder dystocia.

Study Design: The investigation was based on a retrospective analysis of 316 fetal neurological injuries associated with deliveries complicated by arrest of the shoulders that occurred across the United States.

Results: The study revealed that the distribution of birthweights for the high risk shoulder dystocia population differs from the standard birthweight distribution.

Collection of fetal blood for stem cell research and therapy.

Stem cell research has generated novel therapeutic opportunities at the expense of new ethical and legal problems. Its promoters recommended early clamping of the umbilical cord to maximize the amount of acquired fetal blood. Fear has been expressed, therefore, that the donor could be compromised by this approach.

[Fetal ischaemic brain injury in the second trimester of pregnancy].

Based on clinical, epidemiologic, and experimental studies, the aetiology of white matter damage, specially periventricular leukomalacia (PVL), is multifactorial and involves pre- and perinatal factors. Each of these factors is supposed to be a major precursor for neurological and intellectual impairment, and cerebral palsy (CP) in later life. Antenatal rather than intrapartum factors are now emerging as the major determinants of cerebral palsy.

[25 years' history of Váradi-Papp syndrome (orofaciodigital syndrome VI].

Introduction: In 1978 the authors studied a male gypsy child with a multiple malformation syndrome. In this gypsy colony further five cases were found with similar features. The characteristic syndrome was published in 1980.

Untoward neonatal sequelae deriving from cutting of the umbilical cord before delivery.

Four cases are reported where, following the delivery of the fetal head, the physician electively cut the nuchal cord of the fetus. The extraction of the body entailed difficulties and the babies suffered irreversible damage in the process. Not unlike 5 previously described similar cases, these incidents came to the attention of the authors in connection with medico-legal reviews.

Risk of recurrence of craniospinal anomalies.

The authors analyzed 1,655 situations from their Genetic Counseling Service over a 15 year period where the reason for counseling was craniospinal anomaly (neural tube defects and/or hydrocephalus) in the family. Excluding the obviously monogenically inherited cases, they investigated pregnancies undertaken after 1,285 isolated and 177 multiple forms of craniospinal abnormalities. The recurrence rate of craniospinal defects was found to be 3.

[Transient neonatal myasthenia gravis].

Authors reported about their experiences with newborn infants, who had transient myasthenia gravis; one disease developed in the fetal, others 10 in the early neonatal age. Direct correlation was found between the development of maternal polyhydramnios and the severity symptoms in newborns: risk of neonatal myasthenia gravis increased at these infants. Specific treatment included blood exchange transfusions and pyridostigmin (Mestinon) medication for 2-10 weeks.

Common intrapartum denominators of shoulder dystocia related birth injuries.

The intrapartum background of fetal injuries associated with shoulder dystocia was studied retrospectively on the basis of 107 relevant medical records. Intrapartum use of oxytocin and protraction-arrest disorders, the latter particularly during the second stage of labor, were frequent findings. Delivery was effected by forceps or vacuum extraction in almost one-half of the cases.

Cerebral palsy following cutting of the nuchal cord before delivery.

Five cases identified in the course of medicolegal reviews are described where the umbilical cord wrapped around the neck of the foetus once was cut intentionally, or broken, prior to the extraction of the body. Delivery was delayed on account of shoulder dystocia for a period of time varying from three to seven minutes. All of these infants were born with a low APGAR score.

Sonography of meningoencephalitis and ventriculitis in infancy.

On the basis of eleven own cases sonographic features of infant meningoencephalitis and ventriculitis are discussed. The characteristic findings are as follows: abnormal parenchymal echogenicity of brain, changes of the size and wall echogenicity of cerebral ventricles and that of cerebrospinal fluid echogenicity.

Neonatal periventricular leukomalacia: diagnosis and monitoring by real-time ultrasound.

Periventricular leukomalacia is a form of hypoxic-ischaemic encephalopathy developing in preterm babies. During the last year among 387 sonographically screened neonates 11 periventricular neonatal leukomalacia cases were found. Analysing their cases authors discuss its sonographic diagnosis and follow up.

[Ultrasonic diagnosis of agenesis of the corpus callosum].

Agenesis of the corpus callosum may be diagnosed successfully in vivo when sonograms demonstrate absence of corpus callosum, absence of pericallosal and cingulate sulci, wide interhemispheric fissure, small laterally positioned frontal horns with concave lateral borders. Two cases of corpus callosum agenesis were diagnosed in early infancy by ultrasound. Ultrasonographic anatomy of the corpus callosum and characteristic ultrasound features and neurological findings of agenesis are described.

[Leading etiologic factors in periventricular bleeding and periventricular leukomalacia].

Prenatal, intrapartum and postnatal factors were investigated in less than 32 gestational age preterm infants known to have periventricular haemorrhage or periventricular leukomalacia. The diagnoses were established on cranial ultrasonography and/or autopsy. Factors associated with periventricular haemorrhage were: postnatal severe hypercapnia, acidosis and hypoxia.

[Ruling out fetal Sanfilippo's syndrome (mucopolysaccharidosis IIIA) in the first trimester of pregnancy].

The defect of the enzyme heparan sulfamidase is the cause of Sanfilippo A syndrome (mucopolysaccharidosis IIIA) which is an autosomal recessive inherited disease. Three children of a marriage couple who attended our genetical counselling died of this disease which at the moment is incurable. At the 10th week of the following pregnancy chorion villi analysis was carried out and normal values of the enzyme heparan sulfamidase were obtained.

Heterogeneity and recurrence risk for congenital hydrocephalus (ventriculomegaly): a prospective study.

We report on 261 prospectively ascertained pregnancies studied to determine the recurrence risk of congenital hydrocephalus. Our results suggest that couples who have had one previous child with hydrocephalus have a recurrence risk of 4%. Such couples should be offered prenatal diagnosis in the second trimester of all subsequent pregnancies.

Sonographic diagnosis of subcortical cystic leukomalacia.

The real-time sonographic diagnosis of subcortical cystic leukomalacia has been described only recently. We report on a severely asphyxiated term infant who went on to develop this condition, and discuss the usefulness of ultrasound scanning in term babies with hypoxic-ischaemic disease.