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First Birthday (first + birthday)
Selected AbstractsEDITORIAL: It Takes a Society to Raise a Journal: Happy First BirthdayTHE JOURNAL OF SEXUAL MEDICINE, Issue 4 2005Irwin Goldstein MD Editor-in-Chief No abstract is available for this article. [source] A Screening test for the prediction of Dravet syndrome before one year of ageEPILEPSIA, Issue 4 2008Junri Hattori Summary Purpose: Our aim was to develop a screening test to predict Dravet syndrome before the first birthday based on the clinical characteristics of infants and the SCN1A mutation analysis. Methods: Ninety-six patients who experienced febrile seizures before the age of one were enrolled. The patients were divided into two groups,the Dravet syndrome group (n = 46) and the non-Dravet syndrome group (n = 50). We compared the clinical characteristics before one year of age of the two groups. We analyzed all coding exons of the SCN1A gene by the direct sequencing method. Scores from 0 to 3 were assigned to each risk factor based on the odds ratio and p-value. Results: An age of onset of febrile seizure , 7 months, a total number of seizures , 5, and prolonged seizures lasting more than 10 min. were regarded as significant risk factors for Dravet syndrome. Other factors highly predictive of this syndrome were hemiconvulsions, partial seizures, myoclonic seizures, and hot water,induced seizures. A total clinical score of six or above was the cutoff value indicating a high risk of Dravet syndrome. SCN1A missense and truncated mutations were detected significantly more often in the Dravet syndrome group than in the non-Dravet syndrome group. Discussion: This simple screening test was designed to be used by general pediatricians. It could help to predict Dravet syndrome before one year of age. If the sum of the clinical risk score is , 6, then the performance of an SCN1A mutation analysis is recommended. [source] Cutaneous and neurologic manifestations of biotinidase deficiencyINTERNATIONAL JOURNAL OF DERMATOLOGY, Issue 5 2000Paloma Cornejo Navarro A male newborn with no obstetric or familial antecedents, except that his parents were cousins, developed hypotonia, lethargy, and feeding problems from birth. Analysis revealed a marked metabolic acidosis and hyperammonemia. Three weeks later, he was admitted to hospital in order to receive parenteral nutrition and to undertake a study for metabolic diseases. The boy did not improve in spite of the use of parenteral nutrition and began to present with inspiratory stridor and tachypnea. One week later, he presented with an erythematous scaling eruption, which was especially intense in the lumbosacral region ( Fig. 1a,b). The scalp was only slightly affected. Figure 1. Erythematous scaling eruption, more intense in the lumbosacral region Laboratory findings were compatible with biotinidase deficiency diagnosed by demonstrating absent enzyme activity. His parents were also studied and they were found to have partial biotinidase deficiency (30% of enzyme activity). After 37 days of life, the baby was given a treatment consisting of 20 mg of biotin per day intravenously. Biochemical and neurologic alterations improved quickly. Meckel's diverticulum and a duodenal membrane were detected at the second month of life after a gastroduodenal survey, and both were operated on. The skin lesions did not improve, however, and intravenous biotin had to be increased to 40 mg/day. The eruption disappeared after 10 days. On his first birthday, he remained asymptomatic with 40 mg of oral biotin. [source] Readmission with respiratory syncytial virus (RSV) infection among graduates from a Neonatal Intensive Care UnitPEDIATRIC PULMONOLOGY, Issue 4 2002Jonathan McCormick MRCPCH Abstract We evaluated the incidence of readmission with respiratory syncytial virus (RSV) infection among the graduates of a regional Neonatal Intensive Care Unit (NICU), and characterized those who were rehospitalized. These data were used as a predictive tool to estimate the number of babies likely to suffer readmission with RSV for the year 2000 cohort. Using the published efficacies of palivizumab, the costs and benefits of protecting this cohort were assessed. Retrospective analysis of 2,507 NICU inpatient records from January 1, 1994,December 31, 1999 from the Royal Maternity Hospital, Belfast, were compared with data on positive RSV samples from 1,790 patients between January 1, 1995,December 31, 1999 from the Northern Ireland Regional Virus Laboratory. The analysis yielded 136 (7.6%) ex-NICU patients among the positive RSV samples over this 5-year period. Characteristic seasonal peaks of RSV infection with interseasonal variability were observed. Of those readmitted, 86.9% were hospitalized with RSV before their first birthday. A calculated readmission rate of 5.4% for all NICU graduates, and 6.4% for those ,35 weeks, was found, leading to an expectation of 36 readmissions from the 668 NICU graduates in the year 2000 over the next 1,2 years, 20 of whom would be ,35 weeks and 12 would be ,32 weeks. A cost of £1.3 million would be required to protect the ,35-week year 2000 cohort and prevent 11 readmissions. This equals £120,000 per admission prevented, or 28.2 patients treated to prevent 1 readmission. A readmission rate of 6.4% may differ from other studies, as it represents analysis of a greater number of RSV seasons. Using economic arguments alone, the cost of routine administration of Palivizumab to ex-NICU ,35-week infants is prohibitive. A selective practice of immunizing those with chronic lung disease with a background of extreme prematurity over the November to March RSV season may be more cost-effective. Pediatr Pulmonol. 2002; 34:262,266. © 2002 Wiley-Liss, Inc. [source] Short- and long-term consequences of early parental loss in the historical population of the Krummhörn (18th and 19th century)AMERICAN JOURNAL OF HUMAN BIOLOGY, Issue 4 2009Kai P. Willführ The impact of the early loss of one's father or one's mother on the survival and age at death of children was investigated on the basis of a historical reconstitution of families from the Krummhörn (East Frisia/Ostfriesland; Germany) with the aid of Kaplan-Meier plots and the Cox regression. In our analyses, we took into account the changed situation of the family after the death of a parent by incorporating the surviving spouse's remarriage or relationships with stepparents. We find that the impact on survival of the children was sex-specific and also depended on whether and at what point in time during childhood their father or mother had died. As expected, children's immediate survival was strongly affected by maternal loss. A few results can be construed as survival diminishing long-term consequences of the early loss of a parent. Daughters who lost their fathers before their first birthday proved to have increased mortality over a longer period of their youth. The age at death of daughters was also lowered if they had to live with a step-mother during early childhood. To interpret these results, three hypotheses, including an (intrinsic) trade-off, compensation and a selection scenario, were tested. Other approaches, which are based, for example, on the extrinsic trade-off between mating effort and parental investment of the surviving parent, also appear to be suitable as an explanation for the long-term consequences, which eventually draws the conclusion that the compensation scenario is the most likely explanation for the consequences of early parental loss. Am. J. Hum. Biol., 2009. © 2009 Wiley-Liss, Inc. [source] Cooperation and Communication in the 2nd Year of LifeCHILD DEVELOPMENT PERSPECTIVES, Issue 1 2007Michael Tomasello ABSTRACT,Although primates have evolved complex cognitive skills and strategies for competing with others in their social group, only humans have developed complex cognitive skills and motivations for collaborating with one another in joint endeavors. This cooperative dimension of human cognition emerges most clearly around the first birthday as children begin to collaborate and communicate with joint intentions and joint attention. This collaboration is also grounded in social motivations for helping and sharing with others that are unique to humans. In using the skills of shared intentionality that underlie these cooperative interactions, 1-year-olds come to create perspectival cognitive representations. [source] | ||||||||||