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Head Circumference (head + circumference)
Selected AbstractsEffects of iodine supplementation during pregnancy on child growth and development at school ageDEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 2 2002Karen J O'Donnell MEd PhD Growth and development of 207 children (49% males; mean age 5.4 years [SD 0.2], range 4 to 7.3 years whose mothers received iodine during pregnancy, and children who received iodine first in their 2nd year, were examined in 1996; 192 children(49% males; mean age 6.5 years[SD 0.2], range 5.8 to 6.9 years) whose mothers received iodine while pregnant were seen in 1998. Children were from the southern part of China's Xinjiang Province which has the lowest levels of iodine in water and soil ever recorded. Head circumference but not height was improved for those who received iodine during pregnancy (compared with those receiving iodine at age 2) and for those supplemented before the end of the 2nd trimester (relative to those supplemented during the 3rd trimester). Iodine before the 3rd trimester predicted higher psychomotor test scores for children relative to those provided iodine later in pregnancy or at 2 years. Results from the test for cognitive development resulted in trend only differences between those children supplemented during pregnancy versus later. The results address the question of when maternal iodine supplements should begin in public health programs world wide. Findings may be relevant to the treatment of maternal and newborn thyroid deficiency in industrialized countries, particularly for those infants delivered before the end of the second trimester. [source] Effects of maternal smoking in pregnancy on prenatal brain development.EUROPEAN JOURNAL OF NEUROSCIENCE, Issue 3 2007The Generation R Study Abstract Nicotine, as has been shown in animal studies, is a neuroteratogen, even in concentrations that do not cause growth retardation. In humans, there is only indirect evidence for negative influences of nicotine on brain development from studies on the association between maternal smoking in pregnancy and behavioural and cognitive development in the offspring. We investigated the associations of maternal smoking in pregnancy with foetal head growth characteristics in 7042 pregnant women. This study was embedded in the Generation R Study, a population-based prospective cohort study from foetal life until adulthood. Maternal smoking was assessed by questionnaires in early, mid- and late pregnancy. Head circumference, biparietal diameter, transcerebellar diameter and atrial width of lateral ventricles were repeatedly measured by ultrasound. When mothers continued to smoke during pregnancy, foetal head circumference showed a growth reduction of 0.13 mm [95% confidence interval (CI): ,0.18, ,0.09] per week compared to foetuses of mothers who never smoked during pregnancy. Biparietal diameter of foetuses with smoking mothers grew 0.04 mm (95% CI: ,0.05, ,0.02) less per week than that of foetuses of nonsmoking mothers. Atrial width of lateral ventricle was 0.12 mm (95% CI: ,0.22, ,0.02) smaller and transcerebellar diameter was 0.08 mm (95% CI: ,0.15, ,0.00) smaller if mothers smoked, but growth per week of these characteristics was not affected by maternal smoking in pregnancy. In conclusion, continuing to smoke during pregnancy leads to reduced growth of the foetal head. Further research should focus on the causal pathway from prenatal cigarette exposure via brain development to behavioural and cognitive functions. [source] Head circumference and development in young children after renal transplantationPEDIATRICS INTERNATIONAL, Issue 1 2009Osamu Motoyama Abstract Background:, Growth impairment, microcephaly and developmental delay in young children with chronic renal failure improve after successful renal transplantation. There have been few reports on head circumference (HC) and development after transplantation. Method:, Standard deviation scores (SDS) of height and HC and developmental quotient (DQ) after successful renal transplantation were evaluated in 12 recipients under 5 years of age. At the time of transplantation their mean age was 2.5 years and mean bodyweight was 9.0 kg. Results:, Mean height SDS was ,3.0 at transplantation and increased to ,2.3 at 1 year after transplant (P = 0.002). Mean HC-SDS increased from ,1.4 to ,0.9 at 1 year after transplant (P = 0.02). As for each category of DQ examined 1 year after transplant, mean scores of gross motor function, basic practice, personal relations, speech and recognition increased from 69 to 90 (P = 0.007), from 77 to 102 (P = 0.02), from 87 to 103 (P = 0.04), from 71 to 90 (P = 0.0006), and from 88 to 101 (P = 0.03), respectively. Conclusion:, In young children, physical growth, HC growth and DQ scores increased 1 year after transplantation. Dialysis and transplantation program should be planned in young children with end-stage renal failure in anticipation of growth and development of each patient. [source] Early postnatal growth variables are related to morphologic and functional ophthalmologic outcome in children born pretermACTA PAEDIATRICA, Issue 5 2010M Hök-Wikstrand Abstract Aim:, To evaluate the association between gestational age (GA), early and late postnatal growth variables and ophthalmologic outcome in ex-preterm children. Methods:, Children (GA < 32 weeks, n = 66), previously examined regarding insulin-like growth factor 1 (IGF-1) serum concentrations in relation to ROP, underwent ophthalmologic examination at median 5.6 years. Weight, height, and head circumference (HC) were measured and expressed as SDS. Growth variables were analysed in relation to ophthalmologic outcome. Results:, At follow-up 74% had some ophthalmologic abnormality and 17% had visual impairment. Poor visual acuity was correlated with low GA (rs = 0.29, p = 0.019), low weight at 32 weeks (rs = 0.30, p = 0.013), and low weight (rs = 0.37, p = 0.0025), height (rs = 0.41, p = 0.0007) and HC (rs = 0.55, p < 0.0001) at follow-up. Hyperopic children (25%) had low neonatal IGF-1 (p = 0.0096) and HC at follow-up (p = 0.022). Poor visual perception was correlated with low early weight (rs = 0.38, p = 0.0036) and HC at follow-up (rs = 0.39, p = 0.0024). Head circumference at follow-up was correlated with GA (rs = 0.40, p = 0.0012), neonatal IGF-1 (rs = 0.37, p = 0.0031), and early weight (rs = 0.27, p = 0.035). Conclusions:, In very preterm children, early and later postnatal growth is closely related to visual acuity and perception at follow-up. In addition, IGF-1 concentrations and early growth are correlated with head circumference and refraction at follow-up. [source] First year growth among very low birth weight infantsACTA PAEDIATRICA, Issue 4 2010Ane C. Westerberg Abstract Aim:, The aim of this study was to describe first-year growth among very low birth weight infants and the effect of growth restriction at hospital discharge on first year growth. Method:, Anthropometric measures and background information for 118 very low birth weight infants were collected from medical records. Z-scores were calculated based on recent Norwegian growth references. Results:, Significant catch-up growth for weight and length was observed during the first year with mean z-score change (SD) of 0.40 (1.05) and 1.01 (1.25) respectively. However, the very low birth weight infants remained lighter and shorter than full-term peers until 12 months corrected age with mean z-score of ,0.93 (1.09) and ,0.48 (1.06) respectively. Head circumference followed a normal growth pattern after 2 months. Infants discharged from hospital as growth restricted had increased catch-up in weight and length, but remained smaller than infants not subjected to early growth restriction and full-term peers. Multiple regression showed that weight below the 10th percentile at discharge is important for weight and length during the first year of life. Conclusion:, Very low birth weight infants showed catch-up growth during the first year, but their weight and length remained less than full-term peers. Growth deficiencies were more pronounced among infants subjected to early growth restriction, despite increased catch-up growth. [source] Head circumference at birth and the development of allergic disease , more questions than answersCLINICAL & EXPERIMENTAL ALLERGY, Issue 12 2001R. Beasley [source] Head circumference and linear growth during the first 3 years in treated congenital hypothyroidism in relation to aetiology and initial biochemical severityCLINICAL ENDOCRINOLOGY, Issue 1 2004Sze May Ng Summary aims, To determine the head circumference and linear growth in children with congenital hypothyroidism (CH) during the first 3 years of life in relation to the aetiology of CH and initial biochemical severity of thyroid function. methods, We examined the head circumference and linear growth of 125 patients with CH from diagnosis up to 3 years of age. All infants had radionuclide scans prior to treatment. Patients were categorized into athyreosis, ectopia and dyshormonogenesis. Occipito-frontal circumference (OFC) SD, length SD, initial plasma TSH, initial plasma thyroxine (T4) and age of suppression of plasma TSH were compared between the groups. Multiple linear regression analysis was used to determine factors affecting OFC SD at 3 years of age. results, There were 125 children in the study: athyreosis (n = 34), ectopia (n = 73) and dyshormonogenesis (n = 18). No difference was found in gestation, birth weight, age of starting L-T4 and initial dose of L-T4 in mcg/kg/day between groups. Confirmatory plasma total T4 at diagnosis was significantly lower for athyreosis when compared with ectopia and dyshormonogenesis. Median values for confirmatory TSH were significantly lower in dyshormonogenesis compared with the other two groups. At diagnosis, OFC were similar in all three groups. Children with athyreosis showed significantly larger OFCs compared with ectopia and dyshormonogenesis from 1 to 3 years. Length SD was within 1 SD of normal population standards at diagnosis and did not differ between the three groups throughout the 3 years. Spearman's correlation for OFC SD at 3 years of age showed a significant negative correlation with initial confirmatory plasma T4 (r = ,0·35, P = 0·01). Multivariate analysis for OFC SD at 3 years of age showed confirmatory T4 as the only independent risk factor. conclusion, Children with athyreosis showed significantly larger OFC from 1 to 3 years of age compared with ectopia and dyshormonogenesis, independent of linear growth. Our data shows that initial confirmatory T4 at diagnosis is an independent factor influencing head growth in the first 3 years of life. [source] The clinical picture of the Börjeson,Forssman,Lehmann syndrome in males and heterozygous females with PHF6 mutationsCLINICAL GENETICS, Issue 3 2004G Turner The usual description of the Börjeson,Forssman,Lehmann syndrome (BFLS) is that of a rare, X-linked, partially dominant condition with severe intellectual disability, epilepsy, microcephaly, coarse facial features, long ears, short stature, obesity, gynecomastia, tapering fingers, and shortened toes. Recently, mutations have been identified in the PHF6 gene in nine families with this syndrome. The clinical history and physical findings in the affected males reveal that the phenotype is milder and more variable than previously described and evolves with age. Generally, in the first year, the babies are floppy, with failure to thrive, big ears, and small external genitalia. As schoolboys, the picture is one of learning problems, moderate short stature, with emerging truncal obesity and gynecomastia. Head circumferences are usually normal, and macrocephaly may be seen. Big ears and small genitalia remain. The toes are short and fingers tapered and malleable. In late adolescence and adult life, the classically described heavy facial appearance emerges. Some heterozygous females show milder clinical features such as tapering fingers and shortened toes. Twenty percent have significant learning problems, and 95% have skewed X inactivation. We conclude that this syndrome may be underdiagnosed in males in their early years and missed altogether in isolated heterozygous females. [source] Brain development, head circumference and medicationACTA PAEDIATRICA, Issue 5 2000D Hansen No abstract is available for this article. [source] Corrected head circumference centiles as a possible predictor of developmental performance in high-risk neonatal intensive care unit survivorsDEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 11 2005François V Bolduc MD FRCPC The aim of this study was to evaluate the predictive value of corrected head circumference (HC) centiles at 2 years of age with respect to developmental performance in a series of high-risk neonatal intensive care unit (NICU) survivors with microcephaly. The study used a retrospective review of the clinical files of children seen in a clinic devoted to the follow-up of all high-risk survivors of a hospital's level III NICU. All children with microcephaly (occipital-frontal circumference below the 2nd centile for sex) at 2 years of age were identified. The HC obtained at 2 years was corrected to the ages for which the absolute HC corresponded to either the 50th or 2nd centile for the child's sex. Of 312 high-risk patients followed, 38 (12.2%) were microcephalic. Fifteen performed below the 50th age-corrected HC centile (severe developmental delay), 12 performed between the 50th and 2nd age-corrected HC centile (moderate developmental delay), and 11 performed above the 2nd age-corrected HC centile (mild developmental delay). The absolute value of HC measurement was not a predictor of developmental performance. Of all clinical factors evaluated, only coexisting epilepsy was found to be a significant predictor of less than the 50th age-corrected HC centile developmental performance (Chi2=6.134, p=0.01). We conclude that in a high-risk population, the presence of microcephaly implies developmental impairment, though neither the absolute HC measurement nor the corrected HC centile is predictive. Coexisting epilepsy in this context appears to worsen developmental outcome. [source] Factors associated with microcephaly at school age in a very-low-birthweight populationDEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 12 2003Claudia A Chiriboga MD MPH The neonatal predictors of microcephaly, defined as a head circumference <5th centile in children born preterm, has not been systematically assessed. Children were drawn from the Developmental Epidemiology Network (DEN) cohort of very low-birth weight children (VLBW: 500,1500g) born from 1991 to 1993 at three sites in the USA. Neurological assessments were carried out among 198 singleton children (mean age 6 years 8 months, SD 0.5 years). Ninety-six children (48.5%) were male. Microcephaly was observed in 30 children (15%) and, using multivariate analysis, it was found to be associated with gestational age <26 weeks and bronchopulmonary dysplasia (BPD). Sonography-defined white-matter damage (WMD, i.e. echolucency or echodensities) was not associated with increased odds of microcephaly, while occurrence of intraventricular hemorrhage (IVH) was in univariate but not multivariate analysis. In analyses that excluded children with IVH/WMD, odds of microcephaly increased in dose-related fashion according to number of days on ventilator: >5 days, OR=4.5; 95%CI=1.4 to 15; >10 days, OR=5.7; 95%CI=1.7 to 19; >15 days OR=8.3; 95% CI=2.3 to 29.2. Among children without BPD, microcephaly was not associated with differences in IQ, while IQ scores among children with BPD or any ventilation were disproportionately lower among those with microcephaly. In multivariate analyses predicting IQ at age 7 years, microcephaly was found to modify the association between neonatal lung disease and IQ. [source] Early neurodevelopmental markers predictive of mortality in infants infected with HIV-1DEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 2 2003Antolin Llorente PhD One-hundred and fifty-seven vertically infected HIV-1 positive infants (85 males, 72 females) underwent longitudinal assessment to determine whether early neurodevelopmental markers are useful predictors of mortality in those infants who survive to at least 4 months of age. Survival analysis methods were used to estimate time to death for quartiles of 4-month scores (baseline) on the Bayley Scales of Infant Development (BSID). Cox proportional hazards progression was used to estimate relative hazard (RH, 95% CI) of death for BSID scores and potential confounders. Thirty infants with BSID scores at 4 months of age died during follow-up. Survival analysis revealed greater mortality rates in infants with BSID (Mental Developmental Index and Psychomotor Developmental Index) scores in the lower quartile(p=0.004,p=0.036). Unadjusted univariate analyses revealed increased mortality associated with baseline CD4+ 29%, gestational age <37 weeks, smaller head circumference, advanced HIV and higher plasma viral load. BSID scores independently predicted mortality after adjusting for treatment, clinical category, gestational age, plasma viral load and CD4+ percentage. [source] Pattern-reversal visual evoked potentials in infants: gender differences during early visual maturationDEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 5 2002CA Malcolm BScN RN RGN This paper investigates gender differences in the peak latency and amplitude of the P1 component of the pattern-reversal visual evoked potential (pattern-reversal VEP) recorded in healthy term infants. Pattern-reversal VEPs in response to a series of high contrast black and white checks (check widths 120,, 60,, 30,, 24,, 12,, 6,) were recorded in 50 infants (20 males, 30 females) at 50 weeks post-conceptional age (PCA) and in 49 infants (22 males, 27 females) at 66 weeks PCA. Peak latency of the major component, P1, was considerably shorter in female compared with male infants. Differences in head circumference do not entirely account for the gender differences in peak latency reported here. A gender difference in P1 amplitude was not detected. These findings stress the importance of considering gender norms as well as age-matched norms when utilizing the pattern-reversal VEP in clinical investigations. Studies including a wider range of ages are clearly necessary in order to establish whether the earlier peak latencies in female infants represents a difference in the onset or rate of visual maturation. [source] Community-based, Prospective, Controlled Study of Obstetric and Neonatal Outcome of 179 Pregnancies in Women with EpilepsyEPILEPSIA, Issue 1 2006Katriina Viinikainen Summary:,Purpose: This study evaluated obstetric and neonatal outcome in a community-based cohort of women with active epilepsy (WWAE) compared with the general pregnant population receiving modern obstetric care. Methods: We reviewed the total population who gave birth between January 1989 and October 2000 at Kuopio University Hospital. Obstetric, demographic, and epilepsy data were collected prospectively from 179 singleton pregnancies of women with epilepsy and from 24,778 singleton pregnancies of unaffected controls. The obstetric data from the pregnancy register was supplemented with detailed neurologic data retrieved from the medical records. The data retrieved were comprehensive because of a follow-up strategy according to a predecided protocol. Results: During pregnancy, the seizure frequency was unchanged, or the change was for the better in the majority (83%) of the patients. We found no significant differences between WWAE and controls in the incidence of preeclampsia, preterm labor, or in the rates of caesarean sections, perinatal mortality, or low birth weight. However, the rate of small-for-gestational-age infants was significantly higher, and the head circumference was significantly smaller in WWAE. Apgar score at 1 min was lower in children of WWAE, and the need for care in the neonatal ward and neonatal intensive care were increased as compared with controls. The frequency of major malformations was 4.8% (,0.6,10.2%; 95% confidence interval) in the 127 children of WWAE. Conclusions: Pregnancy course is uncomplicated and neonatal outcome is good in the majority of cases when a predecided protocol is used for the follow-up of WWAE in antenatal and neurologic care. Long-term follow-up of the neurologic and cognitive development of the children of WWAE is still needed. [source] Type I collagen markers in cord serum of appropriate vs. small for gestational age infants born during the second half of pregnancyEUROPEAN JOURNAL OF CLINICAL INVESTIGATION, Issue 5 2001T. Saarela Background The serum concentration of the N-terminal propeptide of type I procollagen (PINP) reflects the synthesis rate of type I collagen, whereas the corresponding C-terminal telopeptide (ICTP) mirrors its degradation. Design PINP and ICTP were measured in a total of 690 cord serum samples from 592 appropriate-for-gestational-age (AGA) infants and 98 smal-for-gestational-age (SGA) infants. These markers were compared between AGA and SGA infants of different gestational ages, ranging from 23 to 41 weeks, and birth weights, from 620 to 4555 g. Results Both PINP and ICTP levels were very high in the preterm AGA infants and declined significantly with advancing gestational age, paralleling the shape of the fetal growth velocity curve. Regardless of the quite large interindividual variations observed in these markers, PINP was significantly lower in both the preterm and term AGA infants than in the SGA infants. This was also the case for ICTP in the preterm infants of gestational age less than 36 weeks. In stepwise multiple regression analyses, gestational age, being either AGA or SGA and head circumference were significant factors to explain the levels of PINP and ICTP. The levels of PINP and ICTP were correlated with each other highly significantly in both the AGA and SGA infants (rs = 0·700 and 0·692, respectively; P < 0·001 in both). Conclusions The levels of type I collagen markers seem to follow closely the shape of the fetal growth velocity curve during different stages of gestation. However, because of the large interindividual variations observed, further studies are needed before the significance of these markers for the assessment of normal and abnormal fetal growth can be established. [source] The clinical utility of MRI in patients with neurodevelopmental disorders of unknown originEUROPEAN JOURNAL OF NEUROLOGY, Issue 6 2010H. M. Engbers Introduction:, Neuroimaging of the brain in the diagnostic work-up of patients with neurodevelopmental disorders is a matter of continuing debate. Recommendations range from performing brain imaging in all patients with neurodevelopmental disorders to performing an MRI only in those with indication on clinical examinations. Important indications for neuroimaging are head size abnormalities and focal neurological findings. Methods:, Patients with neurodevelopmental disorders of unknown origin (n = 410), referred to a specialized tertiary diagnostic center for neurodevelopmental disorders were included in a retrospective analysis. A 1-day work-up, including an MRI of the brain was performed. Studied were the: (i) yield of MRI scans of the brain and (ii) associations of specific clinical symptoms/signs with abnormal and diagnostic MRI scans. Results:, (i) In 30.7% of the 410 patients with neurodevelopmental disorders (n = 126), abnormal MRI scans were observed, leading to an etiological diagnosis in 5.4% of the patients (n = 22). (ii) Pyramidal disorders (P = 0.001), epilepsy (P = 0.04) and an abnormal head circumference (P = 0.02) were associated with an abnormal MRI scan. The presence of one of the following neurological symptoms/signs: movement disorders, pyramidal disorders, epilepsy, or an abnormal head circumference was associated with a diagnostic MRI scan (P < 0.001) (diagnostic MRI % in neurological versus no neurological symptoms/signs, 13.0% versus 1.9%). Conclusion:, Neuroimaging of the brain in a tertiary care center for patients with neurodevelopmental disorders of unknown origin is useful, especially in case of neurological symptoms/signs. [source] Effects of maternal smoking in pregnancy on prenatal brain development.EUROPEAN JOURNAL OF NEUROSCIENCE, Issue 3 2007The Generation R Study Abstract Nicotine, as has been shown in animal studies, is a neuroteratogen, even in concentrations that do not cause growth retardation. In humans, there is only indirect evidence for negative influences of nicotine on brain development from studies on the association between maternal smoking in pregnancy and behavioural and cognitive development in the offspring. We investigated the associations of maternal smoking in pregnancy with foetal head growth characteristics in 7042 pregnant women. This study was embedded in the Generation R Study, a population-based prospective cohort study from foetal life until adulthood. Maternal smoking was assessed by questionnaires in early, mid- and late pregnancy. Head circumference, biparietal diameter, transcerebellar diameter and atrial width of lateral ventricles were repeatedly measured by ultrasound. When mothers continued to smoke during pregnancy, foetal head circumference showed a growth reduction of 0.13 mm [95% confidence interval (CI): ,0.18, ,0.09] per week compared to foetuses of mothers who never smoked during pregnancy. Biparietal diameter of foetuses with smoking mothers grew 0.04 mm (95% CI: ,0.05, ,0.02) less per week than that of foetuses of nonsmoking mothers. Atrial width of lateral ventricle was 0.12 mm (95% CI: ,0.22, ,0.02) smaller and transcerebellar diameter was 0.08 mm (95% CI: ,0.15, ,0.00) smaller if mothers smoked, but growth per week of these characteristics was not affected by maternal smoking in pregnancy. In conclusion, continuing to smoke during pregnancy leads to reduced growth of the foetal head. Further research should focus on the causal pathway from prenatal cigarette exposure via brain development to behavioural and cognitive functions. [source] Increased rate of prematurity associated with antenatal antiretroviral therapy in a German/Austrian cohort of HIV-1-infected womenHIV MEDICINE, Issue 1 2008I Grosch-Woerner Objective The aim of the study was to assess the risk of adverse pregnancy outcomes after antenatal antiretroviral therapy in a well-defined prospective cohort of nontransmitting HIV-infected women. Methods Prospective monitoring of 183 mother,child pairs from 13 centres in Germany and Austria, delivering between 1995 and 2001, was carried out. Following German,Austrian guidelines recommending an elective Caesarean section (CS) at 36 weeks, prematurity was defined as <36 weeks' gestation for these analyses. Results Of 183 mother,child pairs, 42% were exposed to antenatal monotherapy and 17% to dual therapy. Of the 75 women exposed to highly active antiretroviral therapy (HAART), 21 (28%) received protease inhibitor (PI)-based HAART and the remaining 54 received nonnucleoside reverse transcriptase inhibitor-based HAART. In multivariable analysis (176 pregnancies), PI-based HAART exposure during pregnancy was associated with an increased risk of premature delivery [adjusted odds ratio 3.40; 95% confidence interval (CI) 1.13,10.2; P=0.029, compared with monotherapy]. Congenital abnormalities affected 3.3% infants. Perinatally, 18.9% of children (34 of 179) had respiratory problems requiring interventions, which were associated with prematurity but not with type of treatment exposure. From adjusted regression analysis, the mean birth weight z -score for children exposed to HAART with PI (+0.46; 95% CI 0.01,0.92; P=0.047) or dual therapy (+0.43; 95% CI 0.03,0.82; P=0.034) was slightly but significantly higher than that for those exposed to monotherapy; head circumference was appropriate for gestational age and there were no significant differences between treatment groups. Conclusions Use of antenatal PI-based HAART initiated before or during pregnancy was associated with a significantly increased risk of premature delivery at <36 weeks' gestation. The overall crude prematurity rate was 34% (63 of 183; 95% CI 28,42). [source] Forensic Considerations in Cases of Neurofibromatosis,An OverviewJOURNAL OF FORENSIC SCIENCES, Issue 5 2007Roger W. Byard M.B.B.S. Abstract:, Neurofibromatosis types 1 and 2 are inherited neurocutaneous disorders characterized by a variety of manifestations that involve the circulatory system, the central and peripheral nervous systems, the skin, and the skeleton. Significant reduction in lifespan occurs in both conditions often related to complications of malignancy and hypertension. Individuals with these conditions may also be the subject of medicolegal autopsy investigation if sudden death occurs. Unexpected lethal events may be associated with intracranial neoplasia and hemorrhage or brainstem compression. Vasculopathy with fibrointimal proliferation may result in critical reduction in blood flow within the coronary or cerebral circulations, and aneurysmal dilatation may be associated with rupture and life-threatening hemorrhage. An autopsy approach to potential cases should include review of the history/hospital record, liaison with a clinical geneticist (to include family follow-up), a full external examination with careful documentation of skin lesions and nodules, measurement of the head circumference in children, photography, possible radiologic examination, a standard internal autopsy examination, documentation of the effects of previous surgery and/or chemo/radiotherapy, examination for specific tumors, specific examination and sampling of vasculature (renal, cerebral, and cardiac), formal neuropathologic examination of brain and spinal cord, possible examination of the eyeballs, examination of the gastrointestinal tract, histology to include tumors, vessels, gut, and bone marrow, toxicological testing for anticonvulsants, and sampling of blood and tissue for possible cytogenetic/molecular evaluation if required. [source] Protein intake, growth and lung function of infants with chronic lung diseaseJOURNAL OF HUMAN NUTRITION & DIETETICS, Issue 3 2009E. Cillié Background:, The increased survival rate of extremely preterm infants has not improved the incidence or outcome of infants diagnosed with chronic lung disease (CLD) (Riley, 2008). The relationship between optimal nutrition (particularly protein intake) and chronic lung disease has not been established. The aim of this study was to investigate the association between protein intake, growth and lung function in infants with CLD. Methods:, A CLD database, maintained for the past 10 years, was used to select participants that had reached 1 year of corrected age. Infants who were born during 2001,2006 with a birth weight of <1500 g, and who subsequently had a diagnosis of CLD, were included. Infants with evidence of intra-uterine growth restriction and abnormal cerebral pathology were excluded. Demographic, mean weight gain, protein intake and respiratory support data were collected retrospectively from the medical notes. Growth parameters and need for oxygen and inhalers up to 1 year of corrected age were collected from the CLD follow-up database. SPSS, version 15 (SPSS Inc., Chicago, IL, USA) were used for Pearson's or Spearmans correlation analysis and analysis of variance or the Wilcoxon test, as appropriate. Results:, Sixty infants were studied: 25 females and 35 males. The median (range) post-menstrual age at birth was 26 (22,31) weeks. The most common feed was breast milk; fortified breast milk was used for 37% of the total days studied. The mean (SD) protein intake was 2.28 (0.33) g kg,1 day,1 and the mean (SD) weight gain was 11.67 (1.77) g kg,1 day,1. There was a positive correlation between protein intake and weight gain (r = 0.32, P = 0.013), which was stronger in females (r = 0.51, P = 0.009). Protein intake was significantly associated with head circumference growth in females only (r = 0.47, P = 0.038). Protein intake was inversely related to the number of days spent mechanically ventilated (r = ,0.32, P = 0.015). There was no relationship between protein intake and growth at 1 year corrected age, time spent on continuous positive airway pressure, age weaned off oxygen, or the use of inhalers. There was an inverse correlation between total weeks of oxygen dependence and head circumference at 1 year (r = ,0.35, P = 0.022). Discussion:, The mean protein intake was <3 g kg,1 day,1, which is the minimum requirement for preterm infants (Tsang et al., 2005). This was associated with a sub-optimal weight gain in our participants of <15 g kg,1 day,1 (Steward & Pridham, 2002). The study demonstrates the known association between low protein intake and poor growth with ventilator dependence (Loui et al., 2008). Conclusions:, Low birth weight and low gestational age infants at risk of CLD should receive special attention to optimise their protein intake because sub-optimal protein intake potentially leads to poor growth when on a neonatal intensive care unit. References Loui, A., Tsalikaki, E., Maier, K., Walch, E., Kamarianakis, Y. & Obladen, M. (2008) Growth in high risk infants <1500 g birth weight during the first 5 weeks. Early Hum. Dev. 84, 645,650, Doi: 10.1016/j.earlhumdev.2008.04.005. Riley, K., Roth, S., Sellwood, M. & Wyatt, J.S. (2008) Survival and neurodevelopmental morbidity at 1 year of age following extremely preterm delivery over a 20-year period: a single centre cohort study. Acta Paediatr.97, 159,165. Steward, D.K. & Pridham, K.F. (2002) Growth patterns of extremely low-birth-weight hospitalised preterm infants. JOGN Nurs31, 57,65. Tsang, R.C., Uauy, R., Koletzko, B. & Zlotkin, S.H., eds. (2005) Nutrition of the Preterm Infant: Scientific Basis and Practical Guidelines. Cincinnati: Digital Educational Publishing. [source] Prenatal diagnosis and postnatal follow-up of a child with mosaic trisomy 22 with several levels of mosaicism in different tissuesJOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH (ELECTRONIC), Issue 5 2010Vincenzo Mazza Abstract We report on the case of a patient with mosaic trisomy 22, who was diagnosed prenatally by amniocentesis during the 16th week of pregnancy. In the foetus, three trisomic clones were found out of the nine that were analyzed (the other six clones had a 46,XY karyotype). Cytogenetic analysis of cord blood during the 20th week of pregnancy showed a normal male karyotype; however, a placental biopsy that was performed at the same time showed 100% and 95% trisomic cells in the chromosomal analysis of direct and long-term cultures, respectively. A follow-up ultrasonographic examination excluded major congenital malformations and the abdominal and cranial circumferences were normal until the 24th week of pregnancy. At this point, a deflection of the growth curve occurred and the values were persistently below the 3rd centile until birth. After birth, karyotypic and fluorescent in situ hybridisation analyses performed on the fibroblasts of the neonate showed that 3,4% of the cell lines were trisomic, and studies using microsatellite markers showed normal allelic segregation, which excluded uniparental disomy. The period of postnatal follow-up was characterised by a significant growth deficit (height and head circumference were less than the 3rd centile) and by mental retardation. The present case is compatible with other earlier reports that showed that the levels of trisomy 22 are tissue-specific and are of little help in establishing the prognosis of the chromosomal abnormality. [source] A randomized trial of enteral feeding volumes in infants born before 30 weeks' gestationJOURNAL OF PAEDIATRICS AND CHILD HEALTH, Issue 6 2000C A Kuschel Objective: To compare the effect of two volumes of enteral feeds on postnatal growth in infants born before 30 weeks gestation. Methodology: Fifty-four infants, less than 30 weeks gestational age, who reached full enteral feeds were randomized to remain on 150 mL/kg per day (150 group) or increase to 200 mL/kg per day (200 group). The primary outcome measure was growth at 35 weeks corrected gestational age (CGA). Results: There were no statistically significant differences in demographic or clinical parameters between the study groups at commencement of the study, although there was a trend for infants in the 150 group to be lighter (895 g vs 1020 g, P = 0.27). Milk intakes were increased in 43% of the infants in the 150 group, whereas 54% of the infants in the 200 group required reduced intakes. Infants in the 200 group had greater daily weight gains (16.7 g/kg per day vs 15.2 g/kg per day, P = 0.047) and at 35 weeks CGA were heavier (2020 g vs 1885 g, P = 0.014) and had a greater arm fat area (282 mm2vs 218 mm2, P = 0.009). There was no difference in length or head circumference at 35 weeks CGA, and no difference in any growth parameter at 1 year of age. Morbidity was not different between the groups. Conclusions: The individual milk volume requirements for adequate weight gain without significant adverse effects vary between 150 and 200 mL/kg per day in extremely premature infants. For many infants in both groups, the assigned target volume was not appropriate. Increased milk intakes (and therefore higher caloric and mineral intakes) are associated with increased daily weight gains and a greater weight at 35 weeks CGA. The weight gain may be due to an increase in fat deposition. [source] Anthropometric and cephalometric measurements in X-linked hypohidrotic ectodermal dysplasiaORTHODONTICS & CRANIOFACIAL RESEARCH, Issue 4 2007MO Lexner Structured Abstract Authors,,, Lexner MO, Bardow A, Bjorn-Jorgensen J, Hertz JM, Almer L, Kreiborg S. Objective,,, To describe the somatic development and craniofacial morphology in males affected with hypohidrotic ectodermal dysplasia (HED) and female carriers and to find clinical markers for early clinical diagnosis of possible female carriers. Design,,, A clinical and radiographic examination of the affected males and the female carriers. Setting and sample population,,, Twenty-four affected males and 43 female carriers with a known mutation in the ED1 gene were examined in a dental clinic in either Copenhagen or Aarhus, Denmark. Experimental variables,,, Height, body mass index (BMI) and head circumference. Cephalometric analysis of the craniofacial morphology. Outcome measure,,, Data on the somatic and craniofacial development in the affected males and female carriers. Results,,, No difference was observed regarding body height in the affected males and female carriers, BMI values were lower than the mean in most affected boys and adolescence and head circumference was somewhat decreased in both groups compared to normative data. The cephalometric analysis showed a reduced maxilla length and prognathism, a normal size and shape of the mandible and a reduced sagittal jaw relationship in both HED groups. Furthermore, affected males had a retroclined nasal bone and a more anteriorly inclined maxilla. A short nose, protruding lips, reduced facial convexity and facial height, characterized the soft tissue profile of the affected males. In female carriers, the lips were significantly retruded when compared with controls. Conclusion,,, No specific somatic or cephalometric markers could be observed, in the female carrier group. [source] Intrauterine growth standards in a developing country: a study of singleton livebirths at 28,42 weeks' gestationPAEDIATRIC & PERINATAL EPIDEMIOLOGY, Issue 5 2007Khalid A. Yunis Summary This study aimed to develop fetal growth charts for the population of Greater Beirut, Lebanon, and compare them with previously established references. A survey of consecutive singleton livebirths admitted to normal nurseries and neonatal intensive care units of major hospitals, through the database project of the National Collaborative Perinatal Neonatal Network was used as a design. The study was conducted in nine major healthcare institutions serving the population of Beirut and its suburbs. A total of 24 767 singleton livebirths delivered between 28 and 42 weeks' gestation, with known data on gender, gestational age and anthropometric characteristics were recorded between 1 April 1999 and 31 March 2002. Growth charts were developed by plotting birthweight, length and head circumference percentiles against gestational age for male and female infants separately. Overall, 1348 (5.4%) pregnancies were delivered before 37 weeks' gestation and 1227 (4.9%) were low birthweight. Male infants were delivered slightly earlier than their female counterparts and the mean birthweight, length and head circumference were consistently higher in males. A total of 2247 (9.1%) infants were small-for-gestational-age, with a male-to-female sex ratio of 1.03. Using previously established growth references that overestimated small-for-gestational-age prevalence resulted in a greater proportion of false positives. The opposite was true for growth references that underestimated small-for-gestational-age prevalence. The current growth charts present useful tools for assessing the general health status of newborn infants delivered at sea level in the urban areas of Lebanon and other East Mediterranean countries. [source] Psychological trauma associated with the World Trade Center attacks and its effect on pregnancy outcomePAEDIATRIC & PERINATAL EPIDEMIOLOGY, Issue 5 2005Stephanie Mulherin Engel Summary The destruction of the World Trade Center (WTC) on 11 September 2001 was a source of enormous psychological trauma that may have consequences for the health of pregnant women and their fetuses. In this report, we describe the impact of extreme trauma on the birth outcomes of women highly exposed to the WTC. We enrolled 187 women who were pregnant and living or working within close proximity to the WTC on 11 September. Among women with singleton pregnancies, 52 completed at least one psychological assessment prior to delivery. In adjusted multivariable models, both post-traumatic stress symptomatology (PTSS) and moderate depression were associated with longer gestational durations, although only PTSS was associated with decrements in infant head circumference at birth (, = ,0.07, SE = 0.03, P = 0.01). The impact of stress resulting from extreme trauma may be different from that which results from ordinary life experiences, particularly with respect to cortisol production. As prenatal PTSS was associated with decrements in head circumference, this may influence subsequent neurocognitive development. Long-term follow-up of infants exposed to extreme trauma in utero is needed to evaluate the persistence of these effects. [source] Safety and efficacy of a new extensively hydrolyzed formula for infants with cow's milk protein allergyPEDIATRIC ALLERGY AND IMMUNOLOGY, Issue 4 2008B. Niggemann Cow's milk protein allergy (CMPA) is best treated by complete elimination of cow's milk from the diet. For infants with CMPA who cannot be breast-fed, formulas based on extensively hydrolyzed proteins or on amino acids are the preferred substitutes for cow's milk-based formulas. In this study, we compared the tolerance and growth of infants with CMPA who were fed a new extensively hydrolyzed formula containing lactose (eHF) with those who were fed an amino acid formula (AAF). This was a prospective, multi-center, randomized, reference-controlled study. Seventy-seven infants <12 months old with suspected CMPA were enrolled. In 66 of these, CMPA was confirmed by oral challenge in a double-blind, placebo-controlled food challenge (DBPCFC) or by a medical history of severe allergic reaction to cow's milk and a positive skin prick test. These infants were then tested for their reaction to eHF and AAF in a DBPCFC. All infants tolerated both formulas and were randomized to receive either eHF (n = 34) or AAF (n = 32) for 180 days. Growth (weight, length, and head circumference) and tolerance [skin, gastro-intestinal, and respiratory tract symptoms of allergy] were evaluated after 30, 60, 90, and 180 days. There were no significant differences between the two groups in any of the growth measurements. Length and head circumference were similar to Euro-growth standards, but weight was slightly lower. Gastro-intestinal and respiratory tract symptoms of allergy were also similar in the two groups. However, whereas SCORAD scores for atopic dermatitis remained constant throughout the study in infants-fed eHF, there was a slight decrease in those fed AAF. Infants-fed eHF had significantly fewer incidents of vomiting than infants-fed AAF and a significantly higher frequency of soft stools. The new eHF is safe and well tolerated in infants diagnosed with CMPA. [source] Head circumference and development in young children after renal transplantationPEDIATRICS INTERNATIONAL, Issue 1 2009Osamu Motoyama Abstract Background:, Growth impairment, microcephaly and developmental delay in young children with chronic renal failure improve after successful renal transplantation. There have been few reports on head circumference (HC) and development after transplantation. Method:, Standard deviation scores (SDS) of height and HC and developmental quotient (DQ) after successful renal transplantation were evaluated in 12 recipients under 5 years of age. At the time of transplantation their mean age was 2.5 years and mean bodyweight was 9.0 kg. Results:, Mean height SDS was ,3.0 at transplantation and increased to ,2.3 at 1 year after transplant (P = 0.002). Mean HC-SDS increased from ,1.4 to ,0.9 at 1 year after transplant (P = 0.02). As for each category of DQ examined 1 year after transplant, mean scores of gross motor function, basic practice, personal relations, speech and recognition increased from 69 to 90 (P = 0.007), from 77 to 102 (P = 0.02), from 87 to 103 (P = 0.04), from 71 to 90 (P = 0.0006), and from 88 to 101 (P = 0.03), respectively. Conclusion:, In young children, physical growth, HC growth and DQ scores increased 1 year after transplantation. Dialysis and transplantation program should be planned in young children with end-stage renal failure in anticipation of growth and development of each patient. [source] Body composition and its components in preterm and term newborns: A cross-sectional, multimodal investigationAMERICAN JOURNAL OF HUMAN BIOLOGY, Issue 1 2010Irfan Ahmad A prospective, cross-sectional, observational study in preterm and term infants was performed to compare multimodal measurements of body composition, namely, limb ultrasound, bone quantitative ultrasound, and dual X-ray absorptiometry (DXA). One hundred and two preterm and term infants appropriate for gestational age were enrolled from the newborn nursery and neonatal intensive care unit. Infants were included when they were medically stable, in an open crib, on full enteral feeds and within 1 week of anticipated discharge. Correlations among the various measurements of body composition were performed using standard techniques. A comparison between preterm infant (born at 28,32 weeks) reaching term to term-born infants was performed. Limb ultrasound estimates of cross-sectional areas of lean and fat tissue in a region of tissue (i.e., the leg) were remarkably correlated with regional and whole-body estimates of fat-free mass and fat obtained from DXA suggesting the potential usefulness of muscle ultrasound as an investigative tool for studying aspects of body composition in this fragile population. There was a weak but significant correlation between quantitative ultrasound measurements of bone strength and DXA-derived bone mineral density (BMD). Preterm infants reaching term had significantly lower body weight, length, head circumference, muscle and fat cross-sectional area, bone speed of sound, whole-body and regional lean body mass, fat mass, and BMD compared to term-born infants. Current postnatal care and nutritional support in preterm infants is still unable to match the in-utero environment for optimal growth and bone development. The use of relatively simple bedside, noninvasive body composition measurements may assist in understanding how changes in different components of body composition early in life affect later growth and development. Am. J. Hum. Biol. 2010. © 2009 Wiley-Liss, Inc. [source] Growth perturbations in a phenotype with rapid fetal growth preceding preterm labor and term birthAMERICAN JOURNAL OF HUMAN BIOLOGY, Issue 6 2009Michelle Lampl The variability in fetal growth rates and gestation duration in humans is not well understood. Of interest are women presenting with an episode of preterm labor and subsequently delivering a term neonate, who is small relative to peers of similar gestational age. To further understand these relationships, fetal growth patterns predating an episode of preterm labor were investigated. Retrospective analysis of fetal biometry assessed by serial ultrasound in a prospectively studied sample of pregnancies in Santiago, Chile, tested the hypothesis that fetal growth patterns among uncomplicated pregnancies (n = 3,706) and those with an episode of preterm labor followed by term delivery (n = 184) were identical across the time intervals 16,22 weeks, 22,28 weeks, and 28,34 weeks in a multilevel mixed-effects regression. The hypothesis was not supported. Fetal weight growth rate was faster from 16 weeks among pregnancies with an episode of preterm labor (P < 0.05), declined across midgestation (22,28 weeks, P < 0.05), and rebounded between 28 and 34 weeks (P = 0.06). This was associated with perturbations in abdominal circumference growth and proportionately larger biparietal diameter from 22 gestational weeks (P = 0.03), greater femur (P = 0.01), biparietal diameter (P = 0.001) and head circumference (P = 0.02) dimensions relative to abdominal circumference across midgestation (22,28 weeks), followed by proportionately smaller femur diaphyseal length (P = 0.02) and biparietal diameter (P = 0.03) subsequently. A distinctive rapid growth phenotype characterized fetal growth preceding an episode of preterm labor among this sample of term-delivered neonates. Perturbations in abdominal circumference growth and patterns of proportionality suggest an altered growth strategy pre-dating the preterm labor episode. Am. J. Hum. Biol., 2009. © 2009 Wiley-Liss, Inc. [source] Growth of infants' length, weight, head and arm circumferences in relation to low levels of blood lead measured seriallyAMERICAN JOURNAL OF HUMAN BIOLOGY, Issue 2 2009Lawrence M. Schell To determine whether levels of blood lead during gestation and infancy that are below the CDC action level of 10 ,g/dl affect infant growth, we studied 211 disadvantaged mother,infant pairs from Albany, NY. Mothers' lead levels were low (second trimester = 2.8 ,g/dl) as were infants' ( = 3.3 ,g/dl at 6 months; 6.4 ,g/dl at 12 months). Multiple linear regression analyses showed that second trimester lead levels were related to reduced head circumference at 6 and 12 months. Infants of mothers with second trimester lead at or above the median (,3 ,g/dl) exhibited negative associations between blood lead and head circumference at 6 and 12 months, and with weight-for-age, weight-for-length, and upper arm circumference at 6 months, but those below the median did not. Infants' 6-month lead level was related to head circumference at 12 months in the total sample, and in the subsample of infants whose blood lead was above the infants' 6-month blood lead median. Infants were also grouped by changes in their relative blood lead status, that is, above vs. below the median, from second trimester to 12 months of age. Infants whose lead levels changed from above to below the median were larger than infants whose lead levels went from below to above the median. The results suggest that lead may affect some dimensions of infant growth at levels below 10 ,g/dl, but effects of lead levels less than 3 ,g/dl are not evident in this sample. Am. J. Hum. Biol., 2009. © 2008 Wiley-Liss, Inc. [source] |