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Results 51 - 100 of 619
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Smith Wendy E - - 2007
Pompe disease (acid-alpha-glucosidase deficiency) encompasses a clinical spectrum, ranging from severe infantile-onset disease with clinical symptoms appearing before 1 year of age with rapid progression to an early death, to late-onset disease with a much more variable age at onset and disease course. Sibling phenotype discordance has been reported for ...
Van Norstrand David W DW Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Rochester, MN 55905, - - 2007
Autopsy-negative sudden unexplained death, including sudden infant death syndrome, can be caused by cardiac channelopathies such as Brugada syndrome (BrS). Type 1 BrS, caused by mutations in the SCN5A-encoded sodium channel, accounts for approximately 20% of BrS. Recently, a novel mutation in the glycerol-3-phosphate dehydrogenase 1-like gene (GPD1-L) disrupted trafficking ...
Kavsak Peter A - - 2007
BACKGROUND: Inflammation in acute coronary syndrome (ACS) can identify those at greater long-term risks for heart failure (HF) and death. The present study assessed the performance of interleukin (IL)-6, IL-8, and monocyte chemoattractant protein-1 (MCP-1) (cytokines involved in the activation and recruitment of leukocytes) in addition to known biomarkers [e.g., ...
Efe Emine - - 2007
PURPOSE: The aim of this study is to determine what mothers know about infant sleep practices and the environment. DESIGN AND METHODS: Data were collected with a semistructured questionnaire. The research was conducted with 231 mothers who delivered an infant and who agreed to participate between September and December 2005. ...
Marter Abigail - - 2007
PURPOSE: The use of pacifiers is a controversial topic; this article looks at the subject from both a historical and cultural perspective, with a review of current research. CONCLUSIONS: The use of pacifiers in infants older than 1 month is currently recommended by multiple researchers to prevent sudden infant death ...
van Sleuwen Bregje E - - 2007
Swaddling was an almost universal child-care practice before the 18th century. It is still tradition in certain parts of the Middle East and is gaining popularity in the United Kingdom, the United States, and The Netherlands to curb excessive crying. We have systematically reviewed all articles on swaddling to evaluate ...
Etzel Ruth A - - 2007
Although outdoor air pollution first brought the issue of air pollution health effects to public attention, it is now indoor air pollution that likely has the greatest impact on children's health. The World Health Organization estimates that the global burden of disease from indoor air pollution is far greater than ...
Ruys Jan H - - 2007
AIM: To investigate the risk of sudden infant death in the Netherlands during bed-sharing in the first half year of life and the protective effect of breastfeeding on it. METHODS: During a 10-year period between September 1996 and September 2006 nationwide, 213 cot deaths were investigated. RESULTS AND DISCUSSION: Of ...
Grieve Philip G - - 2007
To test the hypothesis that infant cortical regions activated by a head-up tilt also exhibit increased functional electrocortical connectivity, prone sleeping newborn and 2- to 4-month-old infants were tilted head-up to 30 degrees. Electroencephalogram (EEG) data were collected with 128 electrodes and coherence calculated to quantify electrocortical synchrony. Local coherence, ...
Altman R L - - 2007
PURPOSE: An apparent life-threatening event (ALTE) refers to the sudden occurrence in an infant of a breathing abnormality, color change, or alteration in muscle tone or mental status. The finding of retinal hemorrhage in an infant who has experienced an ALTE strongly suggests the possibility of shaken baby syndrome. Previous ...
Bendon Robert - - 2008
Three infants with a prenatal diagnosis of Noonan's syndrome suffered fetal hydrops and immediate neonatal death. The infants all had the external appearance of jugular lymphatic obstruction sequence with wide-spaced nipples, redundant posterior nuchal skin, and edema of the dorsa of the feet and hands. All 3 demonstrated thick, redundant ...
Shah Seema - - 2007
PURPOSE OF REVIEW: Apparent life-threatening events are an ongoing diagnostic dilemma for clinicians. Since most apparent life-threatening event episodes occur in infants under 6 months of age, they can generate considerable anxiety in parents and providers. This review will discuss issues to consider in the evaluation of infants after an ...
Melbourne-Chambers R - - 2007
Aicardi syndrome is a triad of abnormalities that includes total or partial agenesis of the corpus callosum, chorioretinal lacunae, and infantile spasms. This syndrome was first described in 1965. A female infant with Aicardi syndrome associated with a nasoethmoidal cephalocele is described in this report. She presented with a history ...
Boussy Tim - - 2007
The diagnosis of Brugada syndrome (BS) is based on a combination of clinical (malignant arrhythmias presenting as syncopal or sudden death episodes) and electrocardiographic (pathognomonic ST segment elevation morphology) features. Over the last 15 years, since its introduction as a distinct clinical entity, the BS has been extensively investigated worldwide. ...
Ott Carol H - - 2007
The purpose of this study was to identify empirically patterns of grief among 141 older bereaved spouses. A longitudinal hierarchical cluster procedure with the Ward agglomeration method was used to identify distinct clusters based on grief scores. Three clusters were identified: common (49%), resilient (34%), and chronic (17%) grief. Members ...
Sahni Rakesh - - 2007
PURPOSE OF REVIEW: This review examines recent research relevant to the underlying pathophysiology and risk factors for sudden infant death syndrome. RECENT FINDINGS: Current research focuses on the linkage between known risk factors and vulnerability, genetic contributions, and the role of dysfunctional brainstem neurotransmission in the pathogenesis of this syndrome. ...
Herrero Hernández A - - 2007
We report a case of PHACES syndrome witch was effectively treated using vincristine. A female infant was referred at 8 months of age for evaluation with a segmental mandibular haemangioma with rapid growing and facial disfigurement. The infant was initially placed on oral prednisone with clinical response but she developed ...
Rakheja Dinesh - - 2008
Systemic fetal dysmorphogenesis in disorders of postsqualene cholesterol biosynthesis is thought to be caused by disruption of Hedgehog signaling. Because precholesterol sterols such as 7-dehydrocholesterol and lathosterol can replace cholesterol in the activation of Hedgehog proteins, it is currently believed that cholesterol deficiency-related Hedgehog signaling block occurs further downstream, probably ...
Keller Mette K - - 2007
The purpose of this study was to test whether the severity of the cranial phenotype in Muenke syndrome infants with unicoronal synostosis is greater than in infants with nonsyndromic unicoronal synostosis. A total of 23 infants were included in the study. All infants included in the study had a computed ...
Ozon Alev - - 2007
Topical therapy with glucocorticoids (GCs) is used commonly in chronic dermatoses. Side effects are less common compared to systemic use; however, newer potent preparations may have serious side effects. A potential danger is their inappropriate use. Three infants who developed iatrogenic Cushing's syndrome and prolonged adrenal suppression in the course ...
Wang Dao W - - 2007
Mutations in genes responsible for the congenital long-QT syndrome, especially SCN5A, have been identified in some cases of sudden infant death syndrome. In a large-scale collaborative genetic screen, several SCN5A variants were identified in a Norwegian sudden infant death syndrome cohort (n=201). We present functional characterization of 7 missense variants ...
Culnane Tamara - - 2006
Tracheostomy is required in approximately 22% of children with Goldenhar syndrome because of upper airway obstruction. We report a case of problematic tracheostomy placement in a 24-week-old ex-premature infant with Goldenhar syndrome. This infant had potentially life-threatening ventilatory insufficiency following tracheostomy placement related to tracheostomy tube size and position. These ...
Poomthavorn Preamrudee - - 2006
Pseudohypoparathyroidism is a parathyroid hormone resistance condition, characterised by biochemical findings of hypocalcaemia or normocalcaemia with inappropriately elevated parathyroid hormone level and usually with a typical osteodystrophy feature. We report an infant with pseudohypoparathyroidism type Ia, who presented with obesity and calcinosis cutis as a clue to diagnosis. A 1-year-old ...
Ostfeld Barbara M - - 2006
BACKGROUND: In 2005, the American Academy of Pediatrics Task Force on Sudden Infant Death Syndrome recommended that infants not bed share during sleep. OBJECTIVE: Our goal was to characterize the profile of risk factors associated with bed sharing in sudden infant death syndrome cases. DESIGN/METHODS: We conducted a population-based retrospective ...
Geib Lorena Teresinha Consalter - - 2006
To evaluate sleep practices regarding maternal, infant, and socioeconomic factors in an infant population and to propose a scoring scale associated with high versus low risk of sudden infant death syndrome. Cross-sectional, population-based study. Passo Fundo, Brazil. 2,285 newborns. Perinatal information was collected from the city health database, and a ...
Antzelevitch Charles - - 2006
First introduced as a new clinical entity in 1992, the Brugada syndrome is associated with a relatively high risk of sudden death in young adults, and occasionally in children and infants. Recent years have witnessed a striking proliferation of papers dealing with the clinical and basic aspects of the disease. ...
Cambria Sara - - 2006
We present a case of hyperexcitability syndrome observed in a neonate born to a mother who was a heavy user of cocoa and chocolate during pregnancy and lactation. The infant presented jitteriness, irritability, inconsolable crying, excessive sucking, and sleeping difficulties almost immediately after birth. The infant underwent extensive diagnostic studies, ...
Richardson Lydia - - 2006
A systematic review of literature was performed on the practice of mucous fistula refeeding in neonates with short bowel syndrome. No randomised controlled studies were identified. Case series reports of 30 infants showed improved weight gain (from -2.36 +/- 1.24 to 21.06 +/- 3.02 g/d) and reduced need for total ...
Kemp Lynn - - 2006
AIM: This study assessed levels of maternal knowledge of sudden infant death syndrome prevention strategies in a socio-economically disadvantaged, culturally diverse population. METHODS: Pregnant women (n=233) were asked to name three things they could do to reduce the risk of cot death. Answers were marked in accordance with the US ...
- - 2006
Fatal child abuse has been mistaken for sudden infant death syndrome. When a healthy infant younger than 1 year dies suddenly and unexpectedly, the cause of death may be certified as sudden infant death syndrome. Sudden infant death syndrome is more common than infanticide. Parents of sudden infant death syndrome ...
Kim Hye Yeon - - 2006
The present study compares neonatal outcome after preterm delivery of infants in pregnancies complicated by the HELLP syndrome or severe preeclampsia (PS). The maternal and neonatal charts of 71 out of a total of 409 pregnancies that were complicated by hypertensive disorders at Severance hospital between January 1995 and December ...
Bajanowski Thomas - - 2007
Sudden infant death syndrome (SIDS) still accounts for considerable numbers of unexpected infant deaths in many countries. While numerous theories have been advanced to explain these events, it is increasingly clear that this group of infant deaths results from the complex interaction of a variety of heritable and idiosyncratic endogenous ...
Mace Sue - - 2006
An average of six babies die unexpectedly each week. Sudden infant death syndrome is the predominant cause but many deaths are recorded as unascertained. Medical experts continue to research the causes of these infant deaths, and advice to parents is constantly being evaluated and revised in an attempt to reduce ...
Oakes Robert S - - 2006
OBJECTIVES: Describe the cause of deaths among patients with postdiarrheal hemolytic uremic syndrome (HUS) and identify predictors of death at the time of hospital admission. METHODS: Case-control study of 17 deaths among patients with HUS identified from the Intermountain HUS Patient Registry (1970-2003) compared against all nonfatal cases. RESULTS: Of ...
Draaisma Anjo M - - 2006
BACKGROUND: Contact of blood with the artificial surfaces of the cardiopulmonary bypass (CPB) system is considered to be a main cause of complement activation. Improving the biocompatibility of the system by reduction of contact activation of blood elements and thereby producing less inflammatory response is evidently desired, especially for neonates ...
Hyman Paul E - - 2006
Recognizing the importance of childhood functional gastrointestinal disorders in understanding adult functional gastrointestinal disorders, and encouraging clinical and research interest, the Rome Coordinating Committee added a pediatric working team to Rome II in 1999. For Rome III, there was an increase from 1 to 2 pediatric working teams. This report ...
Newton Alice W - - 2006
PURPOSE OF REVIEW: This review will examine the most recent published literature on Sudden Infant Death, Sudden Unexplained Infant Death, infant and child death due to maltreatment, and Shaken Baby Syndrome. RECENT FINDINGS: New recommendations from the American Academy of Pediatrics about the evaluation and prevention of possible Sudden Infant ...
Varlet-Marie Emmanuelle - - 2006
There is a lack of consensus about the biological diagnosis of the overtraining syndrome (OTS). Recently, efforts have been made to standardize its clinical diagnosis (e.g., standardized questionnaires like that of the French consensus group on overtraining of the Société Française de Médecine du Sport-SFMS). We previously reported that the ...
Reid G M - - 2006
The sudden infant death syndrome peaks in the second and third month of life. This is the period of the "two-month transformation of the central nervous system" in the human infant. Studies of 120 days of imposed hypokinesia in man demonstrated that the maximum period of autonomic dysfunction was delayed ...
Menihan Cydney A - - 2006
OBJECTIVE: To determine differences in electronic fetal monitoring patterns between infants who died of sudden infant death syndrome and controls. DESIGN: Case-control study (N = 127). SETTING: A tertiary-level women's hospital in Providence, Rhode Island. PARTICIPANTS: Infants born between 1990 and 1998 who subsequently died of sudden infant death syndrome ...
Talbert D G - - 2006
The TRIAD of encephalopathy, subdural haemorrhages, and retinal haemorrhages is commonly considered diagnostic of Shaken Baby Syndrome, but the original paper describes a statistically linked QUADRAD of features, the fourth of which is a previous history of feeding difficulties (dysphagia). Recent reviews of giving pacifiers (dummies) to infants during sleeping ...
Liewluck Teerin - - 2006
Floppy infant syndrome (FIS) refers to a condition wherein an infant manifests generalized hypotonia since birth or in early life. It is heterogeneous and can be caused by various central nervous system disorders, neuromuscular diseases and genetic disorders. X-linked myotubular myopathy (XMTM) is a progressive congenital myopathy morphologically characterized by ...
Geib Lorena T C - - 2006
OBJECTIVES: To quantify the incidence of sudden infant death syndrome in the town of Passo Fundo, in Rio Grande do Sul, Brazil, and to describe the profile of the deaths observed. METHODS: A population-based cohort study of the live births from February 2003 to January 2004 to parents resident in ...
Reid G M - - 2006
In early gestation, the human foetus develops in a buoyant environment, which is similar to the near-weightlessness of space flight. After the 26th week of gestation, the foetus gradually becomes exposed to gravitational forces. The influence of fluid immersion declines as the weight of the foetus increases. In this way, ...
Nelson Phillip G - - 2006
Using a double-antibody immunoaffinity assay (Luminex) and ELISA technology, we measured concentrations of certain neurotrophins, neuropeptides, and cytokines in pooled samples (one to three subjects per sample) eluted from archived neonatal blood of children with later-diagnosed autism, Down syndrome, very preterm birth, or term control infants. We also measured analytes ...
Atabek Mehmet Emre - - 2005
Zimmermann-Laband syndrome is an inherited disorder that is characterized by abnormalities of the head, face, hands, and feet. Most children with this disorder have generalized hypertrichosis, large gingivae, and hypoplasia of the fingernails and toenails. We report a male infant who exhibited typical features of Zimmermann-Laband syndrome with an unusual ...
Lloret Francisco - - 2005
Community resilience after fire is determined by species' ability to regenerate through two main mechanisms growth of new sprouts (resprouter species) and germination from surviving seed banks or from seeds arriving from neighbouring populations (seeder species). Both the mechanisms are present in Mediterranean communities. The occurrence of both the types ...
Marshall Roger J - - 2005
OBJECTIVE: To illustrate scaled rectangle diagrams as a method for displaying clinical and epidemiological attributes (such as symptoms, signs, results of marker tests, disease, or risk factors). These are quantitative Venn diagrams, but using rectangles instead of circles. STUDY DESIGN AND SETTING: The method is illustrated through examples from various ...
Venugopalan Poothirikovil - - 2005
We report a 3-month-old infant girl who presented with supraventricular tachycardia, who was detected to have a large right atrial rhabdomyoma and evidence of Wolff-Parkinson-White (WPW) syndrome with an accessory pathway corresponding to the position of the tumour. In view of the resistant cardiac arrhythmia and large size of the ...
Einspieler Christa - - 2005
An apparently normal early development was one of the initial criteria for classical Rett syndrome. However, several investigators considered Rett syndrome to be a developmental disorder manifesting very soon after birth. Videos of 14 infants with Rett disorder were carefully assessed for their spontaneous movements, in particular general movements (GMs), ...
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