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Normal Infants (normal + infant)
Selected AbstractsRole of color Doppler imaging in diagnosing and managing pregnancies complicated by placental chorioangiomaJOURNAL OF CLINICAL ULTRASOUND, Issue 5 2002Yaron Zalel MD Abstract Purpose The purpose of this study was to evaluate the role of color Doppler imaging in the diagnosis and management of placental chorioangioma. Methods The medical records, sonographic reports, and sonograms of all pregnant women who had placental masses diagnosed in our sonography unit during the years 1992 through 2000 and had been evaluated using both gray-scale and color Doppler sonography were included in this study. Subjective evaluation of the amount and distribution of intralesional vascularity by color Doppler imaging was made in all cases. Cases of chorioangioma of the placenta were compared with cases of placental hemorrhage or subchorionic hematoma. The outcomes of the pregnancies were also recorded. Results Fifteen cases of placental masses were evaluated; 8 of them were identified as placental hemorrhage or subchorionic hematoma on the basis of the sonographic findings. The other 7 cases were identified prenatally as placental chorioangioma, at a mean menstrual age of 23 weeks and a mean maternal age of 29 years. The mean size of the tumor was 6.5 cm (range, 4,13 cm). All cases of chorioangioma showed either substantial internal vascularity or a large feeding vessel within the tumor. Three infants were delivered at term with favorable outcome; 2 of them demonstrated reduction of the intratumoral blood flow during follow-up. The other 4 cases were delivered at or before 32 weeks' menstrual age (1 intrauterine fetal death, 2 terminated pregnancies, and 1 normal infant). No case of placental hematoma demonstrated blood flow within the lesion or was associated with complications of the pregnancy. Conclusions Color Doppler imaging helps differentiate placental chorioangioma from other placental lesions and may be useful in the prenatal follow-up of chorioangioma. © 2002 Wiley Periodicals, Inc. J Clin Ultrasound 30:264,269, 2002; Published online in Wiley InterScience (www.interscience.wiley.com). DOI: 10.1002/jcu.10072 [source] Three different origins for apparent triploid/diploid mosaicsPRENATAL DIAGNOSIS, Issue 7 2003Art Daniel Abstract Four apparent triploid/diploid mosaic cases were studied. Three of the cases were detected at prenatal diagnosis and the other was of an intellectually handicapped, dysmorphic boy. Karyotypes were performed in multiple tissues if possible, and the inheritance of microsatellites was studied with DNA from fetal tissues and parental blood. Non-mosaic triploids have a different origin from these mosaics with simple digyny or diandry documented in many cases. Three different mechanisms of origin for these apparent mosaics were detected: (1) chimaerism with karyotypes from two separate zygotes developing into a single individual, (2) delayed digyny, by incorporation of a pronucleus from a second polar body into one embryonic blastomere, and (3) delayed dispermy, similarly, by incorporation of a second sperm pronucleus into one embryonic blastomere. In three of the four cases, there was segregation within the embryos of triploid and diploid cell lines into different tissues from which DNA could be isolated. In case 2 originating by digyny, the same sperm allele at each locus could be detected in both triploid and diploid tissues, which is supportive evidence for the involvement of a single sperm and for true mosaicism rather than chimaerism. Similarly, in case 4 originating by dispermy, the same single ovum allele at each locus could be detected in diploid and triploid tissues, confirming mosaicism. In the chimaeric case (case 3), the diploid line had the karyotype 47,XY,+16 while the triploid line was 69,XXY. This suggests a chimaera, since, in a true mosaic, the triploid line should also contain the additional chromosome 16. Supporting the interpretation of a chimaeric origin for this case, the DNA data showed that the triploidy was consistent with MII non-disjunction (i.e. involving a diploid ovum). In the mosaic cases (1, 2, 4), there was no evidence of the involvement of a diploid sperm or a diploid ova, and in triploid/diploid mosaicism, an origin from a diploid gamete is excluded, since all such conceptuses would be simple triploids. In one of these triploid/diploid mosaics detected at prenatal diagnosis by CVS, the triploid line seemed to be sequestered into the extra-fetal tissues (confined placental mosaicism). This fetus developed normally and a normal infant was born with no evidence of triploidy in newborn blood or cord blood at three months of age. Copyright © 2003 John Wiley & Sons, Ltd. [source] The spectrum of benign myoclonus of early infancy: Clinical and neurophysiologic features in 102 patientsEPILEPSIA, Issue 5 2009Roberto H. Caraballo Summary Purpose:, To redefine benign myoclonus of early infancy (BMEI) through analysis of clinical and neurophysiologic features in 102 patients with the aim to widen the spectrum of the syndrome, including a number of different clinical expressions of transient nonepileptic paroxysmal movements occurring in normal infants. Methods:, We recruited patients from one center in Argentina and two in Italy, including infants with normal neurologic and psychomotor development presenting with brief paroxysmal abnormal movements. Children with motor phenomena occurring only during sleep were excluded. Patients with abnormal interictal or ictal electroencephalography (EEG) findings were also excluded. The follow-up ranged from 2,40 years. Results:, One hundred and two infants (60 male) met the inclusion criteria. Age at onset ranged from 1,12 months, with a median age of 6.2 months. The following nonepileptic paroxysmal motor phenomena were recognized: (1) myoclonus, (2) spasms and brief tonic contractions, (3) shuddering, (4) atonia or negative myoclonus, (5) more than one type of motor phenomenon. In the majority of cases the episodes occurred only while awake and repeated several times a day. In 45 (44.1%) of the 102 cases contractions appeared in clusters. Conclusions:, Based on the analysis of clinical and EMG features in this large series of infants, we postulate that the spectrum of the syndrome is wider than initially suspected, and that the different transient motor manifestations and their correlation with different EMG patterns will allow recognition of this definitely benign condition comprising a variety of episodic motor phenomena in normal babies. [source] Rapid screening assay of congenital adrenal hyperplasia by measuring 17,-hydroxyprogesterone with high-performance liquid chromatography/electrospray ionization tandem mass spectrometry from dried blood spotsJOURNAL OF CLINICAL LABORATORY ANALYSIS, Issue 1 2002Chien-Chen Lai Abstract A rapid, simple, and specific method was developed for the diagnosis of congenital adrenal hyperplasia (CAH) from dried blood spots on newborn screening cards based on high-performance liquid chromatography/electrospray ionization tandem mass spectrometry (HPLC/ESI-MS/MS). The usefulness of 17,-hydroxyprogesterone (17OH-P) determination on dried filter-paper blood samples from patients with CAH caused by 21-hydroxylase deficiency was evaluated. The LC/MS/MS detection of 17OH-P was rapid, <4 min. The intra- and interday accuracy and precision of the method were <7%. Our procedure maintained good linearities (R2 > 0.992) and recovery rate (>83%). We used this new method to directly determine the 17OH-P levels in dried blood specimens from abnormal children of various ages, with a detection limit of 20 ng/ml (,240 pg), to avoid the time-consuming derivatization steps required by the gas-chromatography/mass spectrometry (GC/MS) method. Four dried filter-paper blood samples of CAH patients (three girls and one boy, 1,14 years old) were all quantified in an LC/MS/MS study and revealed high 17OH-P levels (>90 ng/ml). After treatment, all of the elevated 17OH-P levels either decreased or disappeared. Compared with CAH patients, 17OH-P was nearly undetectable (<20 ng/ml) in the normal infants by LC/MS/MS. This LC/MS/MS assay is not only useful for both diagnosis and monitoring of treatment of CAH in all other age groups, it also can be used as a screening test for CAH infants. In this study, we provided the first data on 17OH-P in dried blood specimens affected with CAH using HPLC/ESI-MS/MS. J. Clin. Lab. Anal. 16:20,25, 2002. © 2002 Wiley-Liss, Inc. [source] Rhythmic movement disorder (head banging) in an adult during rapid eye movement sleepMOVEMENT DISORDERS, Issue 6 2006Kirstie N. Anderson MD Abstract Sleep-related rhythmic movements (head banging or body rocking) are extremely common in normal infants and young children, but less than 5% of children over the age of 5 years old exhibit these stereotyped motor behaviors. They characteristically occur during drowsiness or sleep onset rather than in deep sleep or rapid eye movement (REM) sleep. We present a 27-year-old man with typical rhythmic movement disorder that had persisted into adult life and was restricted to REM sleep. This man is the oldest subject with this presentation reported to date and highlights the importance of recognizing this nocturnal movement disorder when it does occur in adults. © 2006 Movement Disorder Society [source] Nausea and vomiting in pregnancy: maternal characteristics and risk factorsPAEDIATRIC & PERINATAL EPIDEMIOLOGY, Issue 4 2006Carol Louik Summary Nausea with or without vomiting (NVP) is probably the most frequently reported medical complaint of pregnancy, but few studies have considered risk factors for its development. We used data from an ongoing epidemiological study of pregnancies in four regional centres. Mothers of infants with congenital malformations (n = 17 158) and a sample of normal infants (n = 5329) were interviewed within 6 months of delivery by trained nurse-interviewers using a standardised questionnaire. For all risk factors investigated, odds ratios and 95% confidence intervals were calculated using multiple logistic regression, controlling for potential confounders. The cumulative incidence (risk) of NVP was 67%. The risk of NVP and its timing during pregnancy were similar for mothers of malformed and normal infants, so data were combined. No changes in the NVP risk were observed over the 20-year study period. The risk decreased with increasing age, but increased with increasing gravidity. The risk also increased with increasing number of prior miscarriages. Further, within each gravidity category, the risk was higher for twin births than for singletons. Women who reported onset of NVP after the first trimester differed demographically from women whose NVP began earlier: they were less-well educated, had lower incomes, and were more likely to be black. The finding that the number of prior pregnancies, both complete and incomplete, and number of fetuses independently appear to increase the risk of NVP suggests a fetal ,dose' effect. Together with selected demographic characteristics that differentiate early- vs. late-onset NVP, these findings warrant further investigation. [source] Metabolic alkalosis with hypoelectrolytemia in infants with cystic fibrosisPEDIATRICS INTERNATIONAL, Issue 3 2002Stojka Fustik Abstract Background: Infants with cystic fibrosis (CF) can develop episodes of hyponatremic hypochloremic dehydration with metabolic alkalosis when they sweat excessively, which is not caused by sweating in normal infants. We investigated the incidence of the metabolic alkalosis with hypoelectrolytemia in CF infants, the possible risk factors for its occurrence and the importance of the manifestation in the diagnosis of CF. Methods: In order to evaluate the incidence and the risk factors for the development of this sweat-related metabolic disorder in CF, we reviewed the records of all children diagnosed as having CF before the age of 12 months in a 10-year period. Data analysis included medical history data, clinical features, biochemical parameters (blood pH, serum bicarbonate, sodium, chloride and potassium levels), sweat chloride test values, as well as genetic analysis data. Results: The prevalence of metabolic alkalosis in association with low serum electrolyte concentrations (hyponatremia, hypochloremia, and hypokalemia) in infant CF population in our region was 16.5%. We found no season predilection in its occurrence. Early infant age, breast-feeding, delayed CF diagnosis, heat exhaustion and the presence of severe CF transmembrane conductance regulator mutations are predisposed factors for the development of metabolic alkalosis with hypoelectrolytemia. Conclusions: The results from our study suggest that metabolic alkalosis with hypoelectrolytemia is a relatively common manifestation of CF in infancy. The possibility of CF should be seriously considered in any infant with this metabolic disorder. [source] Acoustic features of infant crying related to intended caregiving interventionINFANT AND CHILD DEVELOPMENT, Issue 2 2004Debra M. ZeifmanArticle first published online: 3 JUN 200 Abstract The present study investigated the acoustic features of crying associated with intended caregiving intervention. One hundred eighty-eight parents (138 females, 50 males) viewed a videotape depicting a healthy 4-week-old infant progressing from fussing to crying over the course of 4 minutes, and indicated if and when they would pick up the infant in a real-life situation. There was a distinct peak in responding corresponding to an increase in duration but not fundamental frequency of the infant's cries. This finding is discussed in terms of the existing empirical literature. It is hypothesized that, whereas frequency may convey information about a newborn's neurological integrity and health status at birth, duration and other acoustical variables provide information about slightly older, normal infants' level of distress. Copyright © 2004 John Wiley & Sons, Ltd. [source] | ||||||||||