The Impact of Maternal Overweight on Hair Essential Trace Element and Mineral Content in Pregnant Women and Their Children.

The aim of the present study was to investigate hair essential trace elements and mineral levels in 105 pregnant normal-weight (control) and 55 overweight and obese women in the third trimester of pregnancy, as well as in their children at the age of 9 months. The hair essential trace elements and mineral levels were assessed using inductively coupled plasma mass-spectrometry. Overweight pregnant women had significantly reduced Cr (- 24%; p = 0.

Toxicological and nutritional status of trace elements in hair of women with in vitro fertilization (IVF) pregnancy and their 9-month-old children.

The objective of the present study was to assess toxic and nutritional trace element and mineral status in hair of women with IVF pregnancy and their children. Inductively-coupled plasma mass-spectrometry was used to assess hair trace element levels of 50 women with IVF pregnancy and 158 controls with spontaneous pregnancy and their children. Women with IVF pregnancy were characterized by significantly elevated hair As, Hg, Li, K, Na, and reduced Fe, Si, and Zn contents.

The impact of lifestyle factors on age-related differences in hair trace element content in pregnant women in the third trimester.

Background: Trace elements play a significant role in the regulation of human reproduction, while advanced age may have a significant impact on trace element metabolism. The objective of the present study was to assess the impact of lifestyle factors on age-related differences in hair trace element content in pregnant women in the third trimester.

Methods: A total of 124 pregnant women aged 20–29 (n = 72) and 30–39 (n = 52) were ex- amined.

Forensic bitemark identification: weak foundations, exaggerated claims.

Several forensic sciences, especially of the pattern-matching kind, are increasingly seen to lack the scientific foundation needed to justify continuing admission as trial evidence. Indeed, several have been abolished in the recent past. A likely next candidate for elimination is bitemark identification.

Thrombotic microangiopathy associated with Valproic acid toxicity.

Background: Thrombotic microangiopathy (TMA) is a serious, sometimes life-threatening disorder marked by the presence of endothelial injury and microvascular thrombi. Drug-induced thrombotic microangiopathy (DI-TMA) is one specific TMA syndrome that occurs following drug exposure via drug-dependent antibodies or direct tissue toxicity. Common examples include calcineurin inhibitors Tacrolimus and Cyclosporine and antineoplastics Gemcitabine and Mitomycin.

De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations.

Background: Genomic disorders resulting from deletion or duplication of genomic segments are known to be an important cause of cardiovascular malformations (CVMs). In our previous study, we identified a unique individual with a de novo 17q25.3 deletion from a study of 714 individuals with CVM.

NOTCH, a new signaling pathway implicated in holoprosencephaly.

Genetics of Holoprosencephaly (HPE), a congenital malformation of the developing human forebrain, is due to multiple genetic defects. Most genes that have been implicated in HPE belong to the sonic hedgehog signaling pathway. Here we describe a new candidate gene isolated from array comparative genomic hybridization redundant 6qter deletions, DELTA Like 1 (DLL1), which is a ligand of NOTCH.

Severe mental retardation, seizures, and hypotonia due to deletions of MEF2C.

We present four patients, in whom we identified overlapping deletions in 5q14.3 involving MEF2C using a clinical oligonucleotide array comparative genomic hybridization (CGH) chromosomal microarray analysis (CMA). In case 1, CMA revealed an approximately 140 kb deletion encompassing the first three exons of MEF2C in a 3-year-old patient with severe psychomotor retardation, periodic tremor, and an abnormal motor pattern with mirror movement of the upper limbs observed during infancy, hypotonia, abnormal EEG, epilepsy, absence of speech, autistic behavior, bruxism, and mild dysmorphic features.

Ten years after Daubert: the status of the states.

This paper examines how many of the states have changed their respective scientific-evidence admissibility standards under the influence of the United States Supreme Court's 1993 Daubert decision. The authors offer a definition of what constitutes a Daubert state, and using this definition classify the fifty states into three categories. These are: Frye states (15 states, 10 with codified evidence rules patterned after the Federal Rules of Evidence (FRE)); Daubert states (26 states, 24 with FRE-based rules), and non-Frye/non-Daubert states (9 states, 7 with FRE-based rules).

A double-blind, placebo-controlled withdrawal trial of dexmethylphenidate hydrochloride in children with attention deficit hyperactivity disorder.

Objectives: d,l-threo-methylphenidate HCl (D,L-MPH) is the most common treatment of attention deficit hyperactivity disorder (ADHD). A previous report showed placebo-controlled efficacy for the purified d-isomer (dexmethylphenidate hydrochloride, d-MPH, Focalin) with a 2:1 potency compared to dl, and suggested a 6-hour duration of action. This study complements that report by studying the effect of placebo-controlled discontinuation and retesting the duration of action.

Effect of L-carnitine treatment for valproate-induced hepatotoxicity.

The authors analyzed the association of L-carnitine treatment with hepatic survival in 92 patients with severe, symptomatic, valproate-induced hepatotoxicity. Forty-eight percent of the 42 patients treated with L-carnitine survived, but only 10% of the 50 patients treated solely with aggressive supportive care survived (p < 0.001).

Neuroanatomic and neuropsychological outcome in school-age children with achondroplasia.

We previously reported on cognitive and respiratory factors in a series of infants with achondroplasia (ACH). We now present the results of neuropsychological evaluation and magnetic resonance imaging in 16 school-age children with ACH, 7 of whom had been included as infants in our previous report. We examined the neuroanatomic and cognitive status of this sample, as well as the predictive stability of the prior infant assessment.

L-carnitine supplementation in childhood epilepsy: current perspectives.

In November 1996, a panel of pediatric neurologists met to update the consensus statement issued in 1989 by a panel of neurologists and metabolic experts on L-carnitine supplementation in childhood epilepsy. The panelists agreed that intravenous L-carnitine supplementation is clearly indicated for valproate (VPA)-induced hepatotoxicity, overdose, and other acute metabolic crises associated with carnitine deficiency. Oral supplementation is clearly indicated for the primary plasmalemmal carnitine transporter defect.

Memory functions in children with early hydrocephalus.

Children with arrested, shunted, and no hydrocephalus were compared on verbal and nonverbal memory tasks assessing multiple components of memory. A gradient of severity was hypothesized, with the shunted hydrocephalus group expected to exhibit the most significant memory impairments and the arrested group expected to perform more poorly than children with no hydrocephalus. Etiologies of prematurity, spina bifida, and aqueductal stenosis were represented by 157 participants.

Longitudinal neurological follow-up of a group of HIV-seropositive and HIV-seronegative hemophiliacs: results from the hemophilia growth and development study.

Background: Boys and young men with hemophilia treated with factor infusions before 1985 had a substantial risk of acquiring the human immunodeficiency virus (HIV) and the acquired immunodeficiency syndrome. This study was designed to assess the effects of HIV and hemophilia per se on neurological function in a large cohort of subjects with hemophilia, and to investigate the relationships between neurological disease and death during follow-up.

Methods: Three hundred thirty-three boys and young men (207 HIV seropositive and 126 HIV seronegative) were evaluated longitudinally in a multicenter, multidisciplinary study.

Effects of intraventricular hemorrhage and hydrocephalus on the long-term neurobehavioral development of preterm very-low-birthweight infants.

Measures of intelligence, neuropsychological functions, academic skills, and behavioral adjustment were obtained at school-age from children born preterm with no hydrocephalus (N=29), arrested hydrocephalus (N=19), and shunted hydrocephalus (N=17), and a term comparison group (N=23). Most children also received concurrent neurological examinations and MRI brain scans. Results revealed significantly poorer neurobehavioral development in all four domains in preterm children with shunted hydrocephalus.

Regional brain tissue composition in children with hydrocephalus. Relationships with cognitive development.

Objective: To determine whether children with shunted hydrocephalus show variations in regional brain tissue composition that relate to cognitive functions.

Design: Nonequivalent control group.

Patients And Methods: Magnetic resonance imaging (MRI) and cognitive skills assessments were obtained on 28 children, 6 to 9 years of age, with shunted hydrocephalus and 13 normal control subjects comparable in age, gender, ethnicity, and socioeconomic status.

Morphometric evaluation of the hydrocephalic brain: relationships with cognitive development.

The effects of early hydrocephalus and related brain anomalies on cognitive skills are not well understood. In this study, magnetic resonance scans were obtained from 99 children aged from 6 to 13 years with either shunted hydrocephalus (n = 42) or arrested (unshunted) hydrocephalus (n = 19), from patient controls with no hydrocephalus (n = 23), and from normal, nonpatient controls (n = 15). Lateral ventricle volumes and area measurements of the internal capsules and centra semiovale in both hemispheres were obtained from these scans, along with area measurements of the corpus callosum.

Reliability of brain structure morphometry in hydrocephalic children using MR images.

To assess the ability of human operators to make decisions about region boundaries in significantly malformed brains, we performed a study of the reliability of morphometric measurements of specific brain structures from MRI in children with hydrocephalus and controls. Cross-sectional area measures of the corpus callosum, internal capsules and centrum semiovale, and volumes of the lateral ventricles were made in 50 children. Independent measurements were made by two raters on T1 and T2-weighted MR images.

Verbal and nonverbal skill discrepancies in children with hydrocephalus: a five-year longitudinal follow-up.

Compared verbal and nonverbal skills of 65 children ages 5 to 7 years, with a history of shunted hydrocephalus (n = 26), arrested hydrocephalus (n = 11), and no hydrocephalus (n = 28), over a 5-year period. Comparison of these skills in 4 assessments revealed poorer average nonverbal than verbal skills on measures from the McCarthy Scales of Children's Abilities, the Wechsler Intelligence Scales for Children-Revised (WISC-R), and composites of neuropsychological skills for the shunted hydrocephalus group in comparison to the arrested-hydrocephalus and no hydrocephalus groups. There were higher rates of significant discrepancies between WISC-R Verbal IQ (VIQ) and Performance IQ (PIQ), with PIQ < VIQ in the shunted group.

Behavioral adjustment of children with hydrocephalus: relationships with etiology, neurological, and family status.

Examined the relationship of hydrocephalus and behavioral adjustment in three groups of 5- to 7-year-old children (N = 84) with a history of early hydrocephalus (spina bifida, prematurity, aqueductal stenosis) and three non-hydrocephalic comparison groups (spina bifida, prematurity, normals). Results revealed no significant group differences on measures of behavioral adjustment and a variety of family and sociodemographic variables. Children with hydrocephalus were more likely to meet criteria for behavior problems, obtained lower scores on measures of adaptive behavior, and perceived themselves as less physically competent.