Note: This page contains sample records for the topic early onset periodontitis from Science.gov.
While these samples are representative of the content of Science.gov,
they are not comprehensive nor are they the most current set.
We encourage you to perform a real-time search of Science.gov
to obtain the most current and comprehensive results.
Last update: November 12, 2013.
1

A clinical and microbiological evaluation of systemic and local metronidazole delivery in early onset periodontitis patients.  

PubMed

The present study describes selected clinical and microbiological results obtained by treatment with local (Elyzol) and systemic (Flagyl) use of metronidazole alone and/or mechanical subgingival debridement in early onset periodontitis (EOP). Twelve patients, with lesions not distributed as in classical localized juvenile periodontitis, were included. They were randomly divided into local and systemic treatment groups each comprising 6 individuals, in each of whom 4 sites (one site/quadrant) with a probing depth of > or = 5 mm were selected and treated with separate treatment modalities. The overall treatment design provided 6 different test groups. Groups of quadrants received 1) scaling and root planing 2) local metronidazole treatment 3) systemic metronidazole treatment 4) local metronidazole combined with scaling and root planing 5) systemic metronidazole combined with scaling and root planing 6) No treatment. The microbiological and clinical effects of treatment modalities were monitored over 42 days. The results demonstrated reductions in mean counts of obligate anaerobic and capnophilic microorganisms coupled with significant improvements in mean clinical measurements (gingivitis, probing depth, attachment level) in all groups, except the untreated. Scaling and root planing provided an initial clinical improvement with a selective reduction of periodontopathogens (92.6% obligate anaerobes, 42.9% capnophilic microorganisms), whereas the combination of local or systemic metronidazole with scaling and root planing were found superior in reducing capnophilic bacteria (93.7% and 93.4%, respectively). It is of critical importance to have a treatment rationale for EOP, since bacterial differences exist in the etiological subforms of periodontitis. Microbial testing may be justified before prescribing the adjunctive antibiotic and selecting the mode of delivery for the successful clinical management of EOP. PMID:9569805

Yilmaz, S; Kuru, B; Noyan, U; Kadir, T; Acar, O; Büget, E

1996-09-01

2

Gingival cell IL-2 and IL-4 in early-onset periodontitis.  

PubMed

The purpose of this study was to compare, using cell blot analysis, the association of gingival tissue mononuclear cells (GTMC) isolated from lesions displaying histories of early-onset periodontitis (EOP; typically B-lymphocyte dominated) and gingivitis (typically T-lymphocyte dominated) with the B-cell stimulating cytokine, interleukin (IL)-4, and the T-cell stimulating cytokine, IL-2. Eleven EOP patients and 11 age- and gender-similar gingivitis control (GC) subjects participated. Gingival tissue adjacent to the alveolar crest normally removed during surgery was digested in collagenase-containing media and GTMC were isolated by density gradient centrifugation. Cells were separated into four aliquots. One was left unstimulated; the remainder were stimulated for 2 hours with Porphyromonas gingivalis outer membrane protein, mitogen Concanavalin A, or common antigen tetanus toxoid. Cells then were centrifuged onto transfer membranes and incubated in RPMI 1640 media for 6 hours to allow absorption of secreted cytokine. Membranes were treated with monoclonal anti-IL-2 or anti-IL-4, followed by a biotin-conjugated second layer, streptavidin-alkaline phosphatase and nitro blue tetrazolium/5-bromo-4-chloro-indolyl-phosphate (NBT/BCIP) color development. A higher percentage of GTMC from EOP patients were IL-2+ when stimulated with P. gingivalis compared with GTMC from GC patients (20 +/- 2% vs. 12 +/- 2%, P < 0.003). A higher percentage of non-stimulated GTMC from EOP patients produced IL-4 than from GC (22 +/- 4% vs. 6 +/- 3%, P < 0.00007), as well as when stimulated with P. gingivalis (22 +/- 3% vs. 13 +/- 2%, P < 0.01).(ABSTRACT TRUNCATED AT 250 WORDS) PMID:7990015

Manhart, S S; Reinhardt, R A; Payne, J B; Seymour, G J; Gemmell, E; Dyer, J K; Petro, T M

1994-09-01

3

Th1 and Th2 cytokine profile in patients with early onset periodontitis and their healthy siblings.  

PubMed Central

Early onset periodontitis (EOP) is a chronic inflammatory periodontal disease with a strong genetic link affecting individuals aged 17 to 25. In the familial studies we tested the hypothesis about the role of Th1 and Th2 cytokines in the pathogenesis of EOP disease. The study involved 6 individuals with EOP disease and their 6 siblings with healthy periodontium. Actinobacillus actinomycetemcomitans (A. a), a bacterium typical for EOP, was detected in all people studied. Th1 and Th2 cytokine production was measured after in vitro stimulation. Peripheral blood mononuclear cells (PBMC) were isolated and cultivated for 24 h and 7 days with PWM, A. a. or Escherichia coli. The levels of IL-4, IFN-gamma, IgA, IgG and IgM were measured by ELISA methods. After in vitro stimulation of PBMC, a significantly higher production of IL-4 and significantly lower production of IFN-gamma were found in the group of patients compared with their healthy siblings. The increased level of IL-4 in patients was in good agreement with an increased level of IgM after stimulation of lymphocytes with E. coli. These results support Seymour's hypothesis according to which patients with progressive disease primarily activate Th2 lymphocytes while non-susceptible individuals activate Th1 lymphocytes.

Bartova, J; Kratka-Opatrna, Z; Prochazkova, J; Krejsa, O; Duskova, J; Mrklas, L; Tlaskalova, H; Cukrowska, B

2000-01-01

4

Early childhood caries and childhood periodontal diseases  

Microsoft Academic Search

Dental caries and periodontal diseases are one of the most prevalent diseases affecting adults and children in industrialized\\u000a countries. The major causative factor in both diseases is the microbial biofilm (dental plaque) formed on teeth and oral epithelial\\u000a surfaces, and early childhood caries and periodontal diseases are both plaque-induced infectious diseases caused by endogenous\\u000a bacteria. However, it is also evident

Shigenobu Kimura; Yuko Ohara-Nemoto

5

Periodontal Disease Early in Pregnancy Is Associated With Maternal Systemic  

Microsoft Academic Search

Background: Maternal periodontal disease is a chronic oral in- fection with local and systemic inflammatory responses and may be associated with adverse pregnancy outcomes. This study deter- mined whether maternal periodontal disease in early pregnancy is associated with elevated serum C-reactive protein (CRP) levels and whether maternal race influences the relationship between maternal periodontal disease and systemic inflammatory re- sponses.

Amanda L. Horton; Kim A. Boggess; Kevin L. Moss; Heather L. Jared; James Beck; Steven Offenbacher

6

What is 'early onset dementia'?  

PubMed

There are two types of dementia with early onset: (i) presenile dementias; and (ii) senile dementias with early onset. Most patients who develop dementia before 65 years of age have Alzheimer's disease (AD). The remainder are likely to have vascular dementia (VaD), frontotemporal dementia, head injury, alcohol intoxication, or metabolic disorder. Presenile dementias, caused by frontotemporal lobar degeneration, progressive supranuclear palsy, and corticobasal degeneration, usually occur in patients of presenile and are rarely seen in patients of senile age. Although the factors responsible for the accelerated onset of the illness are not fully known, genetic abnormalities appear to be important in some types of presenile dementia, such as frontotemporal dementia with parkinsonism linked to chromosome 17. Conversely, senile dementias such as sporadic AD and VaD commonly occur in patients of senile age. These disorders may also occur in patients of presenile age, although less frequently. Alzheimer's disease was originally classified as a 'presenile dementia'. Since the 1980s, 'senile dementia of Alzheimer type' (SDAT) and 'Alzheimer's disease' have been considered to belong to the same pathological entity and both are now known as 'dementia of Alzheimer's type (DAT)' or merely 'Alzheimer's disease'. Rapid progression of cognitive impairment with neuropsychological syndromes and neurological symptoms has been considered a characteristic of early onset AD. However, recently, neurological symptoms such as spastic paraparesis, seizures, and myoclonic convulsions have been reported to occur infrequently in early onset AD, although language problems and visuospatial dysfunctions are common. There are at least three dominant genes that have been identified in cases of familial Alzheimer's disease with early onset, namely the amyloid precursor gene (APP), and the genes encoding presenilin 1 (PSEN1) and presenilin 2 (PSEN2). Therefore, genetic abnormalities are important factors contributing to the earlier onset of the illness. It is also important to investigate the pathophysiological mechanism in relation to genetic abnormalities, environmental factors, physical illnesses, and metabolic disturbances to understand the processes underlying the development of dementia with early onset. PMID:19604328

Miyoshi, Koho

2009-06-01

7

Early onset sebaceous carcinoma  

PubMed Central

Background Ocular sebaceous carcinoma can masquerade as benign lesions resulting in delay of diagnosis. Early recognition is even more difficult in young patients where the disease rarely occurs. Here, we provide a clinicopathological correlation of ocular sebaceous carcinoma in a young individual lacking history of hereditary cancer or immunosuppression. Findings A detailed histopathological study including p53 DNA sequencing was performed on an aggressive sebaceous carcinoma presenting in a healthy 32 year-old Caucasian woman. She had no history of retinoblastoma, evidence for a hereditary cancer syndrome, or radiation therapy. However, she potentially was at risk for excessive UV light exposure. A detailed review of the literature is also provided. A moderately well differentiated sebaceous carcinoma was established histopathologically arising from the meibomian gland of the upper eyelid. In most areas, the cytoplasm contained small but distinct Oil-red-O positive vacuoles. Direct sequencing of p53 identified a G:C?A:T mutation at a dipyrimidine site. The mutation results in substitution of arginine for the highly conserved glycine at residue 199 located at the p53 dimer-dimer interface. Energy minimization structural modeling predicts that G199R will neutralize negative charges contributed by nearby inter- and intramonomeric glutamate residues. Discussion This study points to the importance of recognizing that sebaceous carcinoma can occur in young patients with no evidence for hereditary cancer risk or radiation therapy. The G199R substitution is anticipated to alter the stability of the p53 tetrameric complex. The role of UV light in the etiology of sebaceous carcinoma deserves further study. Our findings, taken together with those of others, suggest that different environmental factors could lead to the development of sebaceous carcinoma in different patients.

2011-01-01

8

Role of Treponema Denticola in Periodontal Diseases  

Microsoft Academic Search

Among periodontal anaerobic pathogens, the oral spirochetes, and especially Treponema denticola, have been associated with periodontal diseases such as early-onset periodontitis, necrotizing ulcerative gingivitis, and acute pericoronitis. Basic research as well as clinical evidence suggest that the prevalence of T. denticola, together with other proteolytic Gram-negative bacteria in high numbers in periodontal pockets, may play an important role in the

Michael N. Sela

2001-01-01

9

Early-onset Lafora body disease.  

PubMed

The most common progressive myoclonus epilepsies are the late infantile and late infantile-variant neuronal ceroid lipofuscinoses (onset before the age of 6 years), Unverricht-Lundborg disease (onset after the age of 6 years) and Lafora disease. Lafora disease is a distinct disorder with uniform course: onset in teenage years, followed by progressively worsening myoclonus, seizures, visual hallucinations and cognitive decline, leading to a vegetative state in status myoclonicus and death within 10 years. Biopsy reveals Lafora bodies, which are pathognomonic and not seen with any other progressive myoclonus epilepsies. Lafora bodies are aggregates of polyglucosans, poorly constructed glycogen molecules with inordinately long strands that render them insoluble. Lafora disease is caused by mutations in the EPM2A or EPM2B genes, encoding the laforin phosphatase and the malin ubiquitin ligase, respectively, two cytoplasmically active enzymes that regulate glycogen construction, ensuring symmetric expansion into a spherical shape, essential to its solubility. In this work, we report a new progressive myoclonus epilepsy associated with Lafora bodies, early-onset Lafora body disease, map its locus to chromosome 4q21.21, identify its gene and mutation and characterize the relationship of its gene product with laforin and malin. Early-onset Lafora body disease presents early, at 5 years, with dysarthria, myoclonus and ataxia. The combination of early-onset and early dysarthria strongly suggests late infantile-variant neuronal ceroid lipofuscinosis, not Lafora disease. Pathology reveals no ceroid lipofuscinosis, but Lafora bodies. The subsequent course is a typical progressive myoclonus epilepsy, though much more protracted than any infantile neuronal ceroid lipofuscinosis, or Lafora disease, patients living into the fourth decade. The mutation, c.781T>C (Phe261Leu), is in a gene of unknown function, PRDM8. We show that the PRDM8 protein interacts with laforin and malin and causes translocation of the two proteins to the nucleus. We find that Phe261Leu-PRDM8 results in excessive sequestration of laforin and malin in the nucleus and that it therefore likely represents a gain-of-function mutation that leads to an effective deficiency of cytoplasmic laforin and malin. We have identified a new progressive myoclonus epilepsy with Lafora bodies, early-onset Lafora body disease, 101 years after Lafora disease was first described. The results to date suggest that PRDM8, the early-onset Lafora body disease protein, regulates the cytoplasmic quantities of the Lafora disease enzymes. PMID:22961547

Turnbull, Julie; Girard, Jean-Marie; Lohi, Hannes; Chan, Elayne M; Wang, Peixiang; Tiberia, Erica; Omer, Salah; Ahmed, Mushtaq; Bennett, Christopher; Chakrabarty, Aruna; Tyagi, Atul; Liu, Yan; Pencea, Nela; Zhao, XiaoChu; Scherer, Stephen W; Ackerley, Cameron A; Minassian, Berge A

2012-09-01

10

Degenerative alterations of the cementum-periodontal ligament complex and early tooth loss in a young patient with periodontal disease.  

PubMed

Premature exfoliation of primary or permanent teeth in children or adolescents is extremely rare and it can be a manifestation of an underlying systemic disease. This study aims to present the histological aspects associated with early tooth loss in a case of periodontal disease developed without local inflammation and with minimal periodontal pockets and attachment loss. The maxillary left second premolar was extracted together with a gingival collar attached to the root surface. The histological analysis recorded the resorption of the cementum in multiple areas of the entire root surface with the connective tissue of the desmodontium invading the lacunae defects. The connective tissue rich in cells occupied the periodontal ligamentar space and the resorptive areas. No inflammation was obvious in the periodontal ligament connective tissue. This report may warn clinicians about the possibility of the association of cemental abnormalities with early tooth loss. PMID:23303038

Petru?iu, S A; Buiga, Petronela; Roman, Alexandra; Danciu, Theodora; Mihu, Carmen Mihaela; Mihu, D

2012-01-01

11

Outcome of early onset anorexia nervosa: What do we know?  

Microsoft Academic Search

Six recent studies on the outcome of early onset anorexia nervosa (AN) are reviewed. It would appear that the intermediate term outcome of early onset AN is not different from that of later onset AN. No prognostic indicators were identified and effect of treatment is unknown. Early onset AN may be a disabling and chronic disorder for 25% of patients

L. K. George Hsu

1996-01-01

12

VEPTR Instrumentation in Early Onset Scoliosis  

Microsoft Academic Search

\\u000a VEPTR has been developed for the treatment of thoracic insufficiency syndrome in cases of congenital scoliosis with or without\\u000a rib fusions but quickly evolved as an alternative for the treatment of many types of early onset scoliosis. The efficacy of\\u000a VEPTR instrumentation in controlling complex congenital spine deformities, the relative ease of application, and the spine-sparing\\u000a approach have been factors

Fritz Hefti; Arne Mehrkens; Carol-Claudius Hasler

13

Epidemiology of early-onset schizophrenia  

Microsoft Academic Search

A total of 232 (84%) first episodes of schizophrenia from our epidemiologically defined ABC sample (Age, Beginning and Course) were retrospectively assessed with regard to the onset and early course of the disorder. In a follow-up study a representative subgroup (n=133) was prospectively examined in five cross sections over 3 years from first admission on. Population-based incidence rates for 5-year

H. Häfner; B. Nowotny

1995-01-01

14

Early onset torsion dystonia (Oppenheim's dystonia)  

Microsoft Academic Search

Early onset torsion dystonia (EOTD) is a rare movement disorder characterized by involuntary, repetitive, sustained muscle contractions or postures involving one or more sites of the body. A US study estimated the prevalence at approximately 1 in 30,000. The estimated prevalence in the general population of Europe seems to be lower, ranging from 1 in 330,000 to 1 in 200,000,

Christoph Kamm

2006-01-01

15

Genomic insights into early-onset obesity  

PubMed Central

The biological causes of childhood obesity are complex. Environmental factors, such as massive marketing campaigns for food leading to over-nutrition and snacking and the decline in physical activity, have undoubtedly contributed to the increased prevalence of overweight and obesity in children, but these cannot be considered as the only causes. Susceptibility to obesity is also determined to a great extent by genetic factors. Furthermore, molecular mechanisms involved in the regulation of gene expression, such as epigenetic mechanisms, can increase the risk of developing early-onset obesity. There is evidence that early-onset obesity is a heritable disorder, and a range of genetic factors have recently been shown to cause monogenic, syndromic and polygenic forms of obesity, in some cases interacting with environmental exposures. Modifications of the transcriptome can lead to increased adiposity, and the gut microbiome has recently been shown to be key to the genesis of obesity. These new genomic discoveries complement previous knowledge on the development of early-onset obesity and provide new perspectives for research on the complex molecular and physiological mechanisms involved in this disease. Personalized preventive strategies and genomic medicine may become possible in the near future.

2010-01-01

16

Periodontitis  

MedlinePLUS

... that occurring with leukemia or HIV/AIDS or chemotherapy Poor nutrition Certain medications Hormonal changes, such as those related to pregnancy or menopause Substance abuse Ill-fitting dental restorations Complications The most obvious outcome of untreated periodontitis is: ...

17

Periodontal disease: an overview for physicians.  

PubMed

Periodontitis is now seen as resulting from a complex interplay of bacterial infection and host response, often modified by behavioral factors. There has been a fundamental change in the prevailing periodontal disease model of the 1960s, which suggested that the susceptibility to periodontitis increases with age, and that all individuals are susceptible to severe periodontal disease. More recent research has changed the belief in universal susceptibility to the current view that only some 5-20% of any population suffer from severe generalized periodontitis, and that only moderate disease affects a majority of adults. One major risk factor is smoking, as there is now a clear association between smoking and periodontal disease independent of oral hygiene, age, or any other risk factor. In human periodontitis, there is no simple, direct pathogen-disease link. There are three pathogens that have a strong association with progressive periodontal disease: Actinobacillus actinomycetemcomitans, spirochetes of acute necrotizing gingivitis, and Porphyromonas gingivalis. These pathogens may be the cause of continued loss of periodontal attachment in all periodontal disease classifications despite diligent periodontal therapy. This loss of attachment, or destruction of the periodontal ligament and loss of adjacent supporting bone, is seen in adult periodontitis, as well as in early-onset periodontitis, which affects young persons who otherwise appear healthy. The three forms of early-onset periodontitis are prepubertal periodontitis, localized and generalized juvenile periodontitis, and rapidly progressive periodontitis. They are distinguished from adult periodontitis by the age of onset of the disease, the rapid rate of disease progression, manifestations of defects in host response, and the composition of the subgingival microflora. Prepubertal periodontitis is associated with attachment loss around teeth of the deciduous and/or permanent dentition, and is often associated with severe congenital defects of hematological origin, and alterations in neutrophil chemotaxis function. Periodontitis may also be associated with systemic conditions such as metabolic disorders (diabetes mellitus, female hormonal alterations), drug-induced disorders, hematologic disorders/leukemia, and immune system disorders. These systemic disorders have been documented as capable of affecting the periodontium and/or treatment of periodontal disease. In order to rationally treat and prevent periodontal disease, we need to know the etiologic agents for specific patients, and the mechanism of bacterial pathogenesis in periodontitis. In systemic diseases in which the periodontal tissues are affected as well, early detection and carefully managed therapeutics with the physician and periodontist working together may prove beneficial to the patient's general health and quality of life. PMID:9844364

Fenesy, K E

18

Early onset torsion dystonia (Oppenheim's dystonia)  

PubMed Central

Early onset torsion dystonia (EOTD) is a rare movement disorder characterized by involuntary, repetitive, sustained muscle contractions or postures involving one or more sites of the body. A US study estimated the prevalence at approximately 1 in 30,000. The estimated prevalence in the general population of Europe seems to be lower, ranging from 1 in 330,000 to 1 in 200,000, although precise numbers are currently not available. The estimated prevalence in the Ashkenazi Jewish population is approximately five to ten times higher, due to a founder mutation. Symptoms of EOTD typically develop first in an arm or leg in middle to late childhood and progress in approximately 30% of patients to other body regions (generalized dystonia) within about five years. Distribution and severity of symptoms vary widely between affected individuals. The majority of cases from various ethnic groups are caused by an autosomal dominantly inherited deletion of 3 bp (GAG) in the DYT1 gene on chromosome 9q34. This gene encodes a protein named torsinA, which is presumed to act as a chaperone protein associated with the endoplasmic reticulum and the nuclear envelope. It may interact with the dopamine transporter and participate in intracellular trafficking, although its precise function within the cell remains to be determined. Molecular genetic diagnostic and genetic counseling is recommended for individuals with age of onset below 26 years, and may also be considered in those with onset after 26 years having a relative with typical early onset dystonia. Treatment options include botulinum toxin injections for focal symptoms, pharmacological therapy such as anticholinergics (most commonly trihexiphenydil) for generalized dystonia and surgical approaches such as deep brain stimulation of the internal globus pallidus or intrathecal baclofen application in severe cases. All patients have normal cognitive function, and despite a high rate of generalization of dystonia, 75% of those patients are able to maintain ambulation and independence, and therefore a comparatively good quality of life, with modern treatment modalities.

Kamm, Christoph

2006-01-01

19

Early-Onset Dementia: Frequency and Causes Compared to Late-Onset Dementia  

Microsoft Academic Search

Background: Research on the epidemiology of dementia has focused on the elderly. Few investigations have studied differences in etiologic frequencies between early-onset dementia (EOD), with onset at an age of less than 65 years old, and the more common late-onset disorder. Objectives: To determine relative frequencies and characteristics of EOD versus late-onset dementia (LOD; age of onset ?65 years) diagnosed

Aaron McMurtray; David G. Clark; Dianne Christine; Mario F. Mendez

2006-01-01

20

Early-onset Alzheimer disease clinical variants  

PubMed Central

Objective: To assess patterns of reduced cortical thickness in different clinically defined variants of early-onset Alzheimer disease (AD) and to explore the hypothesis that these variants span a phenotypic continuum rather than represent distinct subtypes. Methods: The case-control study included 25 patients with posterior cortical atrophy (PCA), 15 patients with logopenic progressive aphasia (LPA), and 14 patients with early-onset typical amnestic AD (tAD), as well as 30 healthy control subjects. Cortical thickness was measured using FreeSurfer, and differences and commonalities in patterns of reduced cortical thickness were assessed between patient groups and controls. Given the difficulty of using mass-univariate statistics to test ideas of continuous variation, we use multivariate machine learning algorithms to visualize the spectrum of subjects and to assess separation of patient groups from control subjects and from each other. Results: Although each patient group showed disease-specific reductions in cortical thickness compared with control subjects, common areas of cortical thinning were identified, mainly involving temporoparietal regions. Multivariate analyses permitted clear separation between control subjects and patients and moderate separation between patients with PCA and LPA, while patients with tAD were distributed along a continuum between these extremes. Significant classification performance could nevertheless be obtained when every pair of patient groups was compared directly. Conclusions: Analyses of cortical thickness patterns support the hypothesis that different clinical presentations of AD represent points in a phenotypic spectrum of neuroanatomical variation. Machine learning shows promise for syndrome separation and for identifying common anatomic patterns across syndromes that may signify a common pathology, both aspects of interest for treatment trials. Neurology® 2012;79:80–84

Lehmann, Manja; Barnes, Josephine; Rohrer, Jonathan D.; Warren, Jason D.; Crutch, Sebastian J.; Fox, Nick C.

2012-01-01

21

Psychosocial and Lifestyle Factors Associated With Early-Onset Persistent and Late-Onset Asthma  

Microsoft Academic Search

Data from a 10-site longitudinal investigation of environmental factors associated with child development, the National Institute of Child Health and Human Development Study on Early Child Care and Youth Development, were analyzed to identify psychosocial and lifestyle factors connected to early-onset persistent and late-onset asthma. Results showed that early-onset persistent asthma was associated with male gender, high levels of respiratory

2010-01-01

22

The short-term consequences of early onset cannabis use  

Microsoft Academic Search

The associations between early onset (prior to 15 years of age) cannabis use and rates of mental health or adjustment problems during the period from 15 to 16 years of age were studied in a New Zealand birth cohort. Early onset cannabis users were at increased risks of later substance use behaviors, conduct\\/oppositional disorders, juvenile offending, severe truancy, school dropout,

David M. Fergusson; Michael T. Lynskey; L. John Horwood

1996-01-01

23

Normal gastric antral myoelectrical activity in early onset anorexia nervosa  

Microsoft Academic Search

Anorexia, epigastric discomfort, nausea, and vomiting may result from disordered gastric motility and emptying. These features have been found in many adults with anorexia nervosa, but have never been investigated in early onset anorexia nervosa. In 14 patients with early onset anorexia nervosa (eight of whom had upper gastrointestinal tract symptoms), six children with other eating disorders, four children with

A M Ravelli; B A Helps; S P Devane; B D Lask; P J Milla

1993-01-01

24

Normal neuroimaging in early-onset Krabbe disease.  

PubMed

Krabbe disease has characteristic findings on brain magnetic resonance imaging (MRI) according to age of clinical onset. MRI-negative Krabbe disease has not been reported in early-onset cases. We present the serial clinical and MRI of brain findings in a case of early-onset Krabbe disease with proven enzyme deficiency. Despite clinical progression, the MRI findings of the child remained normal over a period of 15 months. PMID:21481747

Kamate, Mahesh; Hattiholi, Virupaxi

2011-05-01

25

Impaired Phagocytosis in Localized Aggressive Periodontitis: Rescue by Resolvin E1  

Microsoft Academic Search

Resolution of inflammation is an active temporally orchestrated process demonstrated by the biosynthesis of novel proresolving mediators. Dysregulation of resolution pathways may underlie prevalent human inflammatory diseases such as cardiovascular diseases and periodontitis. Localized Aggressive Periodontitis (LAP) is an early onset, rapidly progressing form of inflammatory periodontal disease. Here, we report increased surface P-selectin on circulating LAP platelets, and elevated

Gabrielle Fredman; Sungwhan F. Oh; Srinivas Ayilavarapu; Hatice Hasturk; Charles N. Serhan; Thomas E. van Dyke; Dominik Hartl

2011-01-01

26

Acute, early thermal experience alters weaning onset in rats  

Microsoft Academic Search

GERRISH, C. J., C. M. ONISCHAK AND J. R. ALBERTS. Acute early thermal experience alters weaning onset in rats. PHYSIOL. BEHAV. 64(4) 463–474, 1998. We hypothesized that first ingestion of solid food (weaning onset) would be accelerated in young rats with advanced thermoregulatory development. To manipulate the pups’ thermoregulatory development, we exposed rat pups, but not their dams, to a

Carolyn J. Gerrish; Caroline M. Onischak; Jeffrey R. Alberts

1998-01-01

27

Early-Onset Alzheimer's: When Symptoms Begin Before 65  

MedlinePLUS

... date on Alzheimer's topics. Sign up now Glenn Smith, Ph.D. Early-onset Alzheimer's is an uncommon ... that strikes people younger than age 65. Glenn Smith, Ph.D., a neuropsychologist at Mayo Clinic, Rochester, ...

28

Attention deficit hyperactivity disorder symptoms mediate early-onset smoking  

Microsoft Academic Search

Background\\/Aims: Symptoms of attention deficit hyperactivity disorder (ADHD) have often been associated with early-onset smoking. We hypothesize that reductions in ADHD symptoms due to an intervention have a mediating effect on early-onset smoking. Methods: In a universal, school-based, randomized controlled intervention trial, we examined whether intervention-induced reductions in ADHD symptoms at age 9 mediated the reduced risk of tobacco use

A. C. Huizink; Lier van P. A. C; A. A. M. Crijnen

2008-01-01

29

Attention Deficit Hyperactivity Disorder Symptoms Mediate Early-Onset Smoking  

Microsoft Academic Search

Background\\/Aims: Symptoms of attention deficit hyperactivity disorder (ADHD) have often been associated with early-onset smoking. We hypothesize that reductions in ADHD symptoms due to an intervention have a mediating effect on early-onset smoking. Methods: In a universal, school-based, randomized controlled intervention trial, we examined whether intervention-induced reductions in ADHD symptoms at age 9 mediated the reduced risk of tobacco use

A. C. Huizink; P. A. C. van Lier; A. A. M. Crijnen

2009-01-01

30

Early-onset Combined Methylmalonic Aciduria and Homocystinuria: Neuroradiologic Findings  

Microsoft Academic Search

BACKGROUND AND PURPOSE: Combined methylmalonic aciduria and homocystinuria (MMA-HC) is caused by impaired hepatic conversion of dietary cobalamin to methylcobalamin and adenosylcobalamin, resulting in decreased activity of methylmalonyl-CoA mutase and me- thionine synthase. Patients with the early-onset variety present within 12 months of age with severe neurologic, hematologic, and gastrointestinal abnormalities. We describe the neurora- diologic features of early-onset MMA-HC

Andrea Rossi; Roberto Cerone; Roberta Biancheri; Rosanna Gatti; Maria Cristina Schiaffino; Claudio Fonda; Enrico Zammarchi; Paolo Tortori-Donati

31

Exercise and Early-Onset Alzheimer's Disease: Theoretical Considerations  

PubMed Central

Background/Aims Although studies show a negative relationship between physical activity and the risk for cognitive impairment and late-onset Alzheimer's disease, studies concerning early-onset Alzheimer's disease (EOAD) are lacking. This review aims to justify the value of exercise interventions in EOAD by providing theoretical considerations that include neurobiological processes. Methods A literature search on key words related to early-onset dementia, exercise, imaging, neurobiological mechanisms, and cognitive reserve was performed. Results/Conclusion: Brain regions and neurobiological processes contributing to the positive effects of exercise are affected in EOAD and, thus, provide theoretical support for exercise interventions in EOAD. Finally, we present the design of a randomized controlled trial currently being conducted in early-onset dementia patients.

Hooghiemstra, Astrid M.; Eggermont, Laura H.P.; Scheltens, Philip; van der Flier, Wiesje M.; Scherder, Erik J.A.

2012-01-01

32

Hippocampal Morphology and Distinguishing Late-Onset From Early-Onset Elderly Depression  

PubMed Central

Objective Despite evidence for hippocampal abnormalities in elderly depression, it is unknown whether these changes are regionally specific. This study used three-dimensional mapping techniques to identify regional hippocampal abnormalities in early- and late-onset depression. Neuropsychological correlates of hippocampal morphology were also investigated. Method With high-resolution magnetic resonance imaging, hippocampal morphology was compared among elderly patients with early- (N=24) and late-onset (N=22) depression and comparison subjects (N=34). Regional structural abnormalities were identified by comparing distances, measured from homologous hippocampal surface points to the central core of each individual’s hippocampal surface model, between groups. Results Hippocampal volumes differed between depressed patients and comparison subjects but not between patients with early- and late-onset depression. However, statistical mapping results showed that regional surface contractions were significantly pronounced in late-compared to early-onset depression in the anterior of the subiculum and lateral posterior of the CA1 subfield in the left hemisphere. Significant shape differences were observed bilaterally in anterior CA1–CA3 subfields and the subiculum in patients in relation to comparison subjects. These results were similar when each disease group was separately compared to comparison subjects. Hippocampal surface contractions significantly correlated with memory measures among late- but not early-onset depressed patients or comparison subjects. Conclusions More pronounced regional volume deficits and their associations with memory in late-onset depression may suggest that these patients are more likely to develop cognitive impairment over time than individuals with early-onset depression. Mapping regional hippocampal abnormalities and their cognitive correlates may help guide research in defining risk profiles and treatment strategies.

Ballmaier, Martina; Narr, Katherine L.; Toga, Arthur W.; Elderkin-Thompson, Virginia; Thompson, Paul M.; Hamilton, Liberty; Haroon, Ebrahim; Pham, Daniel; Heinz, Andreas; Kumar, Anand

2010-01-01

33

Why should surgery for early-onset strabismus be postponed?  

Microsoft Academic Search

The author presents a continued study of 82 cases of pseudoparalysis of the bilateral rectus muscles in early-onset convergent strabismus following early surgery. Up to 10 years after surgery motor results show that 72% of cases remain within +\\/- 10 prism dioptres after a single surgical procedure. Sensorial findings corroborate the results of other authors' studies in that binocular association

M. Deller

1988-01-01

34

Early-onset Childhood Sarcoidosis with Incidental Multiple Enchondromatosis  

PubMed Central

The triad of rash, arthritis, and uveitis seems to be characteristic for early-onset childhood sarcoidosis. We describe an interesting case of early-onset childhood sarcoidosis coexisting enchondromatosis, which clinically masquerade as Langerhans cell histiocytosis. A 33 months old girl presented with skin rash, subcutaneous nodules with polyarthritis, and revealed the involvement of lymph nodes as well as spleen during work-up. She also presented with multiple osteolytic lesions which pathologically proven enchondromatosis. Oral prednisone was prescribed at 2 mg/kg/day for 2 months until when subcutaneous nodules and joint swellings almost disappeared, and then slowly tapered over a period of 5 months. We report an unusual case of early-onset childhood sarcoidosis presented with osteolytic bone lesions which were irrelevant to sarcoidosis.

Lee, Jong-Hwa; Lim, Yeon-Jung; Lee, Seunghun; Joo, Kyung Bin; Choi, Yun Young; Park, Chan-Kum

2012-01-01

35

Characterization of Early Partial Seizure Onset: Frequency, Complexity and Entropy  

PubMed Central

Objective A clear classification of partial seizures onset features is not yet established. Complexity and entropy have been very widely used to describe dynamical systems, but a systematic evaluation of these measures to characterize partial seizures has never been performed. Methods Eighteen different measures including power in frequency bands up to 300Hz, Gabor atom density (GAD), Higuchi fractal dimension (HFD), Lempel-Ziv complexity, Shannon entropy, sample entropy, and permutation entropy, were selected to test sensitivity to partial seizure onset. Intracranial recordings from forty-five patients with mesial temporal, neocortical temporal and neocortical extratemporal seizure foci were included (331 partial seizures). Results GAD, Lempel-Ziv complexity, HFD, high frequency activity, and sample entropy were the most reliable measures to assess early seizure onset. Conclusions Increases in complexity and occurrence of high-frequency components appear to be commonly associated with early stages of partial seizure evolution from all regions. The type of measure (frequency-based, complexity or entropy) does not predict the efficiency of the method to detect seizure onset. Significance Differences between measures such as GAD and HFD highlight the multimodal nature of partial seizure onsets. Improved methods for early seizure detection may be achieved from a better understanding of these underlying dynamics.

Jouny, Christophe C.; Bergey, Gregory K.

2011-01-01

36

Onset of a Cardiac Phenotype in the Early Embryo  

Microsoft Academic Search

\\u000a Soon after fertilization, vertebrate embryos grow very rapidly. Thus, very early in gestation a sizeable yet underdeveloped\\u000a organism requires circulating blood. This need dictates the early appearance of a contractile heart, which is the first functional\\u000a organ in both the bird and mammalian embryos. Incipient heart tissue makes its arrival within the mesoderm layer during the\\u000a onset of gastrulation. The

Leonard M. Eisenberg; Carol A. Eisenberg

37

Newer approaches to the diagnosis of early onset neonatal sepsis  

Microsoft Academic Search

Accurate and timely diagnosis of early onset neonatal sepsis remains challenging to the clinician and the laboratory. A test with a rapid turnaround time with 100% sensitivity, rather than high specificity, which allows accurate diagnosis and appropriate antimicrobial treatment or which allows antibiotics to be safely withheld in non-infected infants, is desirable. Many potential markers (acute phase reactants, cell surface

U K Mishra; S E Jacobs; L W Doyle; S M Garland

2006-01-01

38

Treatment of Early Onset Hair Pulling as a Simple Habit  

Microsoft Academic Search

The authors evaluated the effects of response prevention, a treatment previously shown to be effective for routine thumb sucking and suggested to be effective for early onset trichotillomania, applied to hair pulling in a 2-year-old. Response prevention was used alone in two settings (bedtime and naptime) and combined with a brief time out in another (daytime). The authors also used

Michelle R. Byrd; David F. Richards; Gayleen Hove; Patrick C. Friman

2002-01-01

39

Early-Onset Psychosis in Youth with Intellectual Disability  

ERIC Educational Resources Information Center

|Accurate diagnosis of psychotic disorders may be very difficult in youth with intellectual disabilities. The authors reviewed the assessment, treatment and follow-up of 21 youths with ID referred because of early onset of psychotic symptoms. Just over one half of the patients had a diagnosis of schizophrenia or schizo-affective disorder. One…

Friedlander, R. I.; Donnelly, T.

2004-01-01

40

Early-Onset Bipolar Spectrum Disorders: Diagnostic Issues  

ERIC Educational Resources Information Center

|Since the mid 1990s, early-onset bipolar spectrum disorders (BPSDs) have received increased attention in both the popular press and scholarly press. Rates of diagnosis of BPSD in children and adolescents have increased in inpatient, outpatient, and primary care settings. BPSDs remain difficult to diagnose, particularly in youth. The current…

Danner, Stephanie; Fristad, Mary A.; Arnold, L. Eugene; Youngstrom, Eric A.; Birmaher, Boris; Horwitz, Sarah M.; Demeter, Christine; Findling, Robert L.; Kowatch, Robert A.

2009-01-01

41

Early Onset Bipolar Spectrum Disorder: Psychopharmacological, Psychological, and Educational Management  

ERIC Educational Resources Information Center

|Although published research continues to advocate medication as the first line of treatment for early onset bipolar spectrum disorder (EOBSD; N. Lofthouse & M.A. Fristad, 2004), preliminary research demonstrating the utility of cognitive, cognitive-behavioral, and psychoeducational therapies is promising. It appears as if future treatment of…

McIntosh, David E.; Trotter, Jeffrey S.

2006-01-01

42

Early Onset Bipolar Spectrum Disorder: Psychopharmacological, Psychological, and Educational Management  

ERIC Educational Resources Information Center

Although published research continues to advocate medication as the first line of treatment for early onset bipolar spectrum disorder (EOBSD; N. Lofthouse & M.A. Fristad, 2004), preliminary research demonstrating the utility of cognitive, cognitive-behavioral, and psychoeducational therapies is promising. It appears as if future treatment of EOBSD…

McIntosh, David E.; Trotter, Jeffrey S.

2006-01-01

43

Early versus late-onset idiopathic focal segmental glomerulosclerosis.  

PubMed

Glomerular diseases in children, although similar in histological appearance to those in adults, may have a better prognosis. There is much controversy regarding the prognostic factors in idiopathic focal segmental glomerulosclerosis (FSGS), especially the comparative prognosis of children and adults. A comparative analysis was carried out of 36 consecutive biopsy-proven cases of idiopathic FSGS presenting early in life ['early onset' as seen in children < or =12 years (group I)] and 36 cases presenting later ['late-onset' as seen in older children >12 years and adults (group II)]. Patients were compared for clinical, biochemical, and histopathological features, as well as disease outcome. A significantly higher prevalence of hypertension (P=0.002) and microscopic hematuria was seen in group II (P=0.02). There were no differences between the two groups in glomerular filtration rates corrected for body surface area at initial presentation (92+/-11 ml/min/1.73 m2 vs. 94+/-14 ml/min/1.73 m2). Patients with 'late-onset' FSGS had a significantly higher number of glomeruli with segmental sclerosis (P=0.007), more mesangial matrix expansion (P=0.009), greater mesangial cellularity (P=0.003), and significantly higher blood vessel involvement (P=0.03) than those with 'early onset' FSGS. There was a significantly higher response to steroids in group I (82.3%) than group II (36.4%) (P<0.02). At the end of the study period, 2 patients in group I and 11 in group II had developed persistent renal failure (P=0.01). Thus 'early onset' FSGS is more common in males, has significantly lower prevalence of hypertension and microscopic hematuria, with less-severe histopathological involvement, is more often steroid responsive, and has a better prognosis than 'late-onset' FSGS. PMID:10975306

Gulati, S; Elhence, R; Kher, V; Sharma, R K; Jain, M; Gupta, A; Gupta, R K

2000-09-01

44

Early onset intractable seizures: nonverbal communication after hemispherectomy.  

PubMed

The nonverbal communication skills of 10 children (mean age = 44.2 months) who underwent hemispherectomy for early onset intractable seizures were tested before and after surgery. A within-group analysis suggests that the 10 seizure-free children used more nonverbal communication after a mean follow-up period of 11.2 months than before surgery. Young normal language age matches were available for the 4 older and higher functioning subjects in the sample. Before surgery, the surgical subjects used less requesting gestures than did the normal children. After surgery, these differences were no longer apparent. The patients also employed more gestures to focus an adult's attention on objects and events than language-age-matched normal children. The children who underwent left or right hemispherectomy used similar nonverbal communication behaviors. The study's findings suggest that children with early onset intractable seizures have impaired early social communication that improves to some extent after hemispherectomy. PMID:1401119

Caplan, R; Guthrie, D; Shields, W D; Sigman, M; Mundy, P; Sherman, T; Vinters, H V

1992-10-01

45

Phenomenology of Early Childhood Onset Obsessive Compulsive Disorder  

Microsoft Academic Search

This paper describes the phenomenological features of early childhood onset obsessive compulsive disorder (OCD; defined as\\u000a children meeting DSM-IV criteria for OCD with age of onset <8 years). Fifty-eight children (ages 4–8) were included in the\\u000a sample. OCD and comorbid diagnoses were determined by structured interview, and OCD severity was measured using the Children’s\\u000a Yale-Brown Obsessive Compulsive Scale (CY-BOCS). Mean age

Abbe M. Garcia; Jennifer B. Freeman; Michael B. Himle; Noah C. Berman; Alexandra K. Ogata; Janet Ng; Molly L. Choate-Summers; Henrietta Leonard

2009-01-01

46

A study of cranial computertomograms in very early and early onset schizophrenia  

Microsoft Academic Search

Summary.   The cranial computer-assisted tomograms of 19 patients suffering from schizophrenic psychoses with onset by age of 14 were\\u000a examined. The emphasis was on the extent of the inner liquor spaces. Compared to healthy controls, at the beginning of illness\\u000a a significant enlargement was revealed only in the patient group with very early onset schizophrenia (VEOS, onset prior to\\u000a the

F. Badura; G.-E. Trott; C. Mehler-Wex; P. Scheuerpflug; E. Hofmann; M. Warmuth-Metz; M. Nadjmi; L. Solymosi; A. Warnke

2001-01-01

47

Early and phasic cortical metabolic changes in vestibular neuritis onset.  

PubMed

Functional brain activation studies described the presence of separate cortical areas responsible for central processing of peripheral vestibular information and reported their activation and interactions with other sensory modalities and the changes of this network associated to strategic peripheral or central vestibular lesions. It is already known that cortical changes induced by acute unilateral vestibular failure (UVF) are various and undergo variations over time, revealing different cortical involved areas at the onset and recovery from symptoms. The present study aimed at reporting the earliest change in cortical metabolic activity during a paradigmatic form of UVF such as vestibular neuritis (VN), that is, a purely peripheral lesion of the vestibular system, that offers the opportunity to study the cortical response to altered vestibular processing. This research reports [(18)F]fluorodeoxyglucose positron emission tomography brain scan data concerning the early cortical metabolic activity associated to symptoms onset in a group of eight patients suffering from VN. VN patients' cortical metabolic activity during the first two days from symptoms onset was compared to that recorded one month later and to a control healthy group. Beside the known cortical response in the sensorimotor network associated to vestibular deafferentation, we show for the first time the involvement of Entorhinal (BAs 28, 34) and Temporal (BA 38) cortices in early phases of symptomatology onset. We interpret these findings as the cortical counterparts of the attempt to reorient oneself in space counteracting the vertigo symptom (Bas 28, 34) and of the emotional response to the new pathologic condition (BA 38) respectively. These interpretations were further supported by changes in patients' subjective ratings in balance, anxiety, and depersonalization/derealization scores when tested at illness onset and one month later. The present findings contribute in expanding knowledge about early, fast-changing, and complex cortical responses to pathological vestibular unbalanced processing. PMID:23505435

Alessandrini, Marco; Pagani, Marco; Napolitano, Bianca; Micarelli, Alessandro; Candidi, Matteo; Bruno, Ernesto; Chiaravalloti, Agostino; Di Pietro, Barbara; Schillaci, Orazio

2013-03-07

48

Hypergonadotropic Hypogonadism, Progressive Early-Onset Spinocerebellar Ataxia, and Late-Onset Sensorineural Hearing Loss: Case Report and Literature Review  

PubMed Central

The association of ataxia, hypergonadotropic hypogonadism and hearing loss is extremely rare. Considerable heterogeneity exists in the literature of the neurological manifestations, age of onset, clinical severity and associated abnormalities. We describe a 24-year-old woman with secondary hypergonadotropic amenorrhea, early-onset progressive spinocerebellar ataxia (SCA), late-onset sensorineural hearing loss and normal intelligence and compare it with reported cases.

Sarikaya, E; Ensert, CG; Gulerman, HC

2011-01-01

49

Risk Assessment in Neonatal Early-Onset Sepsis  

PubMed Central

The incidence of neonatal early-onset sepsis has declined with the widespread use of intrapartum antibiotic therapies, yet early-onset sepsis remains a potentially fatal condition, particularly among very low-birth weight infants. Clinical signs of neonatal infection are non-specific and may be absent in the immediate postnatal period. Maternal and infant clinical characteristics, as well as infant laboratory values, have been used to identify newborns at risk, and to administer empiric antibiotic therapy to prevent progression to more severe illness. Such approaches result in the evaluation of approximately 15% of asymptomatic term and late preterm infants and of nearly all preterm infants. The development of multivariate predictive models may provide more accurate methods of identifying newborns at highest risk and allow for more limited newborn antibiotic exposures.

Mukhopadhyay, Sagori; Puopolo, Karen M.

2013-01-01

50

Genetics of early-onset obsessive–compulsive disorder  

Microsoft Academic Search

Obsessive–compulsive disorder (OCD) is characterized by recurrent, intrusive and disturbing thoughts as well as by repetitive\\u000a stereotypic behaviors. Epidemiological data are similar in children and adults, i.e., between 1 and 3% of the general population\\u000a suffer from OCD. Children with OCD are often seriously impaired in their development. OCD, especially of early onset, has\\u000a been shown to be familial. Several

Susanne Walitza; Jens R. Wendland; Edna Gruenblatt; Andreas Warnke; Thomas A. Sontag; Oliver Tucha; Klaus W. Lange

2010-01-01

51

A magnetic approach to treating progressive early-onset scoliosis.  

PubMed

Early-onset scoliosis presents at birth and up to five years of age. Growing rods are a treatment option when early-onset scoliosis cannot be controlled by serial casts or braces. The function of a growing rod is to allow a child's spine to continue to grow under controlled conditions until a definitive correction can be made when the patient nears skeletal maturity. This article presents two case reports describing the use of an expandable magnetic growing rod in children with progressive, early-onset scoliosis. After implantation, caregivers expand the rod nonsurgically using an external magnet to obtain and maintain correction while the child grows. The first case report describes the use of a magnetic growing rod in a patient with a rigid spinal curve and a significant rotational deformity; the second case report describes a patient with a more flexible neuromuscular curve. These were the first two patients to be offered treatment with an expandable rod in North America after the surgeon obtained approval to use the device based on compassionate grounds from the US Food and Drug Administration and institutional review board consent and approval for both surgeries. PMID:22840505

Wick, Jane M; Konze, Julie

2012-08-01

52

Deferred and immediate imitation in regressive and early onset autism  

PubMed Central

Deferred imitation has long held a privileged position in early cognitive development, considered an early marker of representational thought with links to language development and symbolic processes. Children with autism have difficulties with several abilities generally thought to be related to deferred imitation: immediate imitation, language, and symbolic play. However, few studies have examined deferred imitation in early autism. The present study examined both deferred, spontaneous imitation and immediate, elicited imitation on a set of carefully matched tasks in 36 young children with autism: 16 with early onset autism, 20 with regressive autism and two contrast groups, younger typically developing children (n = 20) and age matched children with significant developmental delays (n = 21). Analyses of co-variance controlling for differences in verbal mental age revealed significant main effects for task, but no main effect of group and no interaction of task by group. Deferred imitation scores were lower than immediate imitation scores for all groups. Imitation performance was related to overall intellectual functioning for all groups, and there were moderate and significant relations between imitation in the immediate elicited condition and in the spontaneous deferred condition for all groups. Finally, there were no differences between onset subgroups in imitation scores, suggesting that the two share a similar phenotype involving both types of imitation.

Rogers, Sally J.; Young, Gregory S.; Cook, Ian; Giolzetti, Angelo; Ozonoff, Sally

2010-01-01

53

Deferred and immediate imitation in regressive and early onset autism.  

PubMed

Deferred imitation has long held a privileged position in early cognitive development, considered an early marker of representational thought with links to language development and symbolic processes. Children with autism have difficulties with several abilities generally thought to be related to deferred imitation: immediate imitation, language, and symbolic play. However, few studies have examined deferred imitation in early autism. The present study examined both deferred, spontaneous imitation and immediate, elicited imitation on a set of carefully matched tasks in 36 young children with autism: 16 with early onset autism, 20 with regressive autism and two contrast groups, younger typically developing children (n = 20) and age matched children with significant developmental delays (n = 21). Analyses of co-variance controlling for differences in verbal mental age revealed significant main effects for task, but no main effect of group and no interaction of task by group. Deferred imitation scores were lower than immediate imitation scores for all groups. Imitation performance was related to overall intellectual functioning for all groups, and there were moderate and significant relations between imitation in the immediate elicited condition and in the spontaneous deferred condition for all groups. Finally, there were no differences between onset subgroups in imitation scores, suggesting that the two share a similar phenotype involving both types of imitation. PMID:18221343

Rogers, Sally J; Young, Gregory S; Cook, Ian; Giolzetti, Angelo; Ozonoff, Sally

2008-01-21

54

Early microbial succession in re-developing dental biofilms in periodontal health and disease  

PubMed Central

Objective To determine the order of bacterial species succession in re-developing supra and subgingival biofilms. Methods Supra and subgingival plaque samples were taken separately from 28 teeth in 38 healthy and 17 periodontitis subjects immediately after professional cleaning. Samples were taken again from 7 teeth in randomly selected quadrants after 1, 2, 4 and 7 days of no oral hygiene and analyzed using checkerboard DNA-DNA hybridization. % DNA probe counts were averaged within subjects at each time point. Ecological succession was determined using a modified moving window analysis. Results Succession in supragingival biofilms from periodontitis and health was similar. At 1 day, Streptococcus mitis and Neisseria mucosa showed increased proportions, followed by Capnocytophaga gingivalis, Eikenella corrodens, Veillonella parvula and Streptococcus oralis at 1–4 days. At 4–7 days, Campylobacter rectus, Campylobacter showae, Prevotella melaninogenica and Prevotella nigrescens became elevated. Subgingival plaque redevelopment was slower and very different from supragingival. Increased proportions were first observed for S. mitis, followed by V. parvula and C. gingivalis and, at 7 days by Capnocytophaga sputigena and P. nigrescens. No significant increase in proportions of periodontal pathogens was observed in any of the clinical groups or locations. Conclusions There is a defined order in bacterial species succession in early supra and subgingival biofilm re-development after professional cleaning.

TELES, F.R.; TELES, R.P.; UZEL, N.G.; SONG, X.Q.; TORRESYAP, G.; SOCRANSKY, S.S.; HAFFAJEE, A.D.

2011-01-01

55

Susceptibility genetic variants associated with early-onset colorectal cancer.  

PubMed

Colorectal cancer (CRC) is the second most common cancer in Western countries. Hereditary forms only correspond to 5% of CRC burden. Recently, genome-wide association studies have identified common low-penetrant CRC genetic susceptibility loci. Early-onset CRC (CRC<50 years old) is especially suggestive of hereditary predisposition although 85-90% of heritability still remains unidentified. CRC<50 patients (n = 191) were compared with a late-onset CRC group (CRC>65 years old) (n = 1264). CRC susceptibility variants at 8q23.3 (rs16892766), 8q24.21 (rs6983267), 10p14 (rs10795668), 11q23.1 (rs3802842), 15q13.3 (rs4779584), 18q21 (rs4939827), 14q22.2 (rs4444235), 16q22.1 (rs9929218), 19q13.1 (rs10411210) and 20p12.3 (rs961253) were genotyped in all DNA samples. A genotype-phenotype correlation with clinical and pathological characteristics in both groups was performed. Risk allele carriers for rs3802842 [Odds ratio (OR) = 1.5, 95% confidence interval (CI) 1.1-2.05, P = 0.0096, dominant model) and rs4779584 (OR = 1.39, 95% CI 1.02-1.9, P = 0.0396, dominant model) were more frequent in the CRC<50 group, whereas homozygotes for rs10795668 risk allele were also more frequent in the early-onset CRC (P = 0.02, codominant model). Regarding early-onset cases, 14q22 (rs4444235), 11q23 (rs3802842) and 20p12 (rs961253) variants were more associated with family history of CRC or tumors of the Lynch syndrome spectrum excluding CRC. In our entire cohort, sum of risk alleles was significantly higher in patients with a CRC family history (OR = 1.40, 95% CI 1.06-1.85, P = 0.01). In conclusion, variants at 10p14 (rs10795668), 11q23.1 (rs3802842) and 15q13.3 (rs4779584) may have a predominant role in predisposition to early-onset CRC. Association of CRC susceptibility variants with some patient's familiar and personal features could be relevant for screening and surveillance strategies in this high-risk group and it should be explored in further studies. PMID:22235025

Giráldez, María Dolores; López-Dóriga, Adriana; Bujanda, Luis; Abulí, Anna; Bessa, Xavier; Fernández-Rozadilla, Ceres; Muñoz, Jenifer; Cuatrecasas, Miriam; Jover, Rodrigo; Xicola, Rosa M; Llor, Xavier; Piqué, Josep M; Carracedo, Angel; Ruiz-Ponte, Clara; Cosme, Angel; Enríquez-Navascués, José María; Moreno, Victor; Andreu, Montserrat; Castells, Antoni; Balaguer, Francesc; Castellví-Bel, Sergi

2012-01-10

56

Childhood Risk Factors for Early-Onset Drinking*  

PubMed Central

Objective: There is relatively little research on the childhood antecedent predictors of early-onset alcohol use. This study examined an array of psychosocial variables assessed at age 10 and reflecting Problem Behavior Theory as potential antecedent risk factors for the initiation of alcohol use at age 14 or younger. Method: A sample of 452 children (238 girls) ages 8 or 10 and their families was drawn from Allegheny County, PA, using targeted-age directory sampling and random-digit dialing procedures. Children and parents were interviewed using computer-assisted interviews. Logistic regression analyses were used to examine the age-10 univariate and multivariate predictors of the initiation of alcohol use by age 14 or younger. Results: Twenty-five percent of the sample reported having more than a sip or a taste of alcohol in their life by age 14. Sex, race, and age cohort did not relate to early drinking status. Children with two parents were less likely to initiate drinking early. Early initiation of drinking related significantly to an array of antecedent risk factors (personality, social environment, and behavioral) assessed at age 10 that reflect psychosocial proneness for problem behavior. In the multivariate model, the variables most predictive of early-onset drinking were having a single parent, sipping or tasting alcohol by age 10, having parents who also started drinking at an early age, and parental drinking frequency. Conclusions: Initiation of alcohol use by age 14 reflects childhood psychosocial proneness to engage in problem behavior as measured by Problem Behavior Theory and having a family environment conducive to alcohol use.

Donovan, John E.; Molina, Brooke S. G.

2011-01-01

57

Clinical and treatment comparisons between adults with early- and late-onset obsessive-compulsive disorder  

Microsoft Academic Search

It is often suggested that early onset of disorders leads to higher severity and greater treatment refractoriness. Previous research has investigated whether there are clinical and demographic differences between groups of individuals who have experienced onset of obsessive-compulsive disorder (OCD) at an early or later age. Results suggest that individuals who report an early onset (EO) of the disorder report

Claire L. Lomax; Victoria B. Oldfield; Paul M. Salkovskis

2009-01-01

58

Hypergonadotropic hypogonadism, progressive early-onset spinocerebellar ataxia, and late-onset sensorineural hearing loss: case report and literature review.  

PubMed

The association of ataxia, hypergonadotropic hypogonadism and hearing loss is extremely rare. Considerable heterogeneity exists in the literature of the neurological manifestations, age of onset, clinical severity and associated abnormalities. We describe a 24-year-old woman with secondary hypergonadotropic amenorrhea, early-onset progressive spinocerebellar ataxia (SCA), late-onset sensorineural hearing loss and normal intelligence and compare it with reported cases. PMID:24052715

Sarikaya, E; Ensert, Cg; Gulerman, Hc

2011-12-01

59

Early-Onset Bipolar Spectrum Disorders: Diagnostic Issues  

PubMed Central

Since the mid 1990s, early-onset bipolar spectrum disorders (BPSDs) have received increased attention in both the popular press and scholarly press. Rates of diagnosis of BPSD in children and adolescents have increased in inpatient, outpatient, and primary care settings. BPSDs remain difficult to diagnose, particularly in youth. The current diagnostic system makes few modifications to accommodate children and adolescents. Researchers in this area have developed specific BPSD definitions that affect the generalizability of their findings to all youth with BPSD. Despite knowledge gains from the research, BPSDs are still difficult to diagnose because clinicians must: (1) consider the impact of the child’s developmental level on symptom presentation (e.g., normative behavior prevalence, environmental limitations on youth behavior, pubertal status, irritability, symptom duration); (2) weigh associated impairment and course of illness (e.g., neurocognitive functioning, failing to meet full DSM criteria, future impairment); and (3) make decisions about appropriate assessment (differentiating BPSD from medical illnesses, medications, drug use, or other psychiatric diagnoses that might better account for symptoms; comorbid disorders; informant characteristics and assessment measures to use). Research findings concerning these challenges and relevant recommendations are offered. Areas for further research to guide clinicians’ assessment of children with early-onset BPSD are highlighted.

Danner, Stephanie; Arnold, L. Eugene; Youngstrom, Eric A.; Birmaher, Boris; Horwitz, Sarah M.; Demeter, Christine; Findling, Robert L.; Kowatch, Robert A.

2013-01-01

60

Genetics of early onset bipolar affective disorder: are we making progress?  

PubMed

Though considerable progress has been made in understanding the molecular genetics of bipolar affective dis order, few studies are currently focusing on the genetics of prepubertal or early adolescent onset illness. A variety of studies of the phenomenology, imaging and comorbidity of early onset bipolarity find significant differences from late onset illness. These studies raise the notion that early onset cases may represent a distinct genetic form or forms of manic-depressive illness. PMID:11914176

Todd, Richard D

2002-04-01

61

Genetics of early onset bipolar affective disorder: Are we making progress?  

Microsoft Academic Search

Though considerable progress has been made in understanding the molecular genetics of bipolar affective dis order, few studies\\u000a are currently focusing on the genetics of prepubertal or early adolescent onset illness. A variety of studies of the phenomenology,\\u000a imaging and comorbidity of early onset bipolarity find significant differences from late onset illness. These studies raise\\u000a the notion that early onset

Richard D. Todd

2002-01-01

62

Assessing Racial/Ethnic Differences in the Social Consequences of Early-Onset Psychiatric Disorder  

PubMed Central

Individuals with early onset of psychiatric disorder have worse social outcomes than individuals with adult onset. It is unknown whether this association varies by racial/ethnic group. Identifying groups at risk for poor social outcomes is important for improving clinical and policy interventions. We compared unemployment, high school dropout, arrest, and welfare participation by race/ethnicity and time of onset using a nationally representative sample of Whites, Blacks, Asians, and Latinos with lifetime psychiatric disorder. Early onset was associated with worse social outcomes than adult onset. Significant Black-White and Latino-White differences in social outcomes were identified. The association between early onset and negative social outcomes was similar across Whites, Latinos, and Blacks. For Asians, the association between unemployment and early onset was opposite that of Whites. Increasing early detection and treatment of psychiatric illness should be prioritized. Further study will clarify the association between onset and social outcomes among sub-ethnic populations.

Le Cook, Benjamin; Carson, Nicholas; Alegria, Margarita

2010-01-01

63

Early Onset Recurrent Subtype of Adolescent Depression: Clinical and Psychosocial Correlates  

ERIC Educational Resources Information Center

|Background: Evaluated trajectories of adolescent depression and their correlates in a longitudinal study of a community sample: early onset (by age 15) with major depression (MDE) recurrence between 15 and 20; early onset with no recurrence; later onset of major depression after age 15 with and without recurrence by 20; and never-depressed.…

Hammen, Constance; Brennan, Patricia A.; Keenan-Miller, Danielle; Herr, Nathaniel R.

2008-01-01

64

Early and late markers for the detection of early-onset neonatal sepsis  

Microsoft Academic Search

Introduction: In this study we tested how a combination of early and late paraclinic markers could predict early onset neonatal sepsis (EONS). Methodology: The first 24 hours after the suspicion of EONS, we measured interleukine (IL)-6, IL-8, IL-10, IL-18, tumor necrosis factor-alpha (TNF-? ), interferon gamma (INF-?), procalcitonin (PCT) and C-reactive protein (CRP) at 8-hour intervals on 123 neonates clinically

L. Bender; J. Thaarup; K. Varming; H. Krarup; S. Ellermann-Eriksen; F. Ebbesen

65

Early Identification of Autism: Early Characteristics, Onset of Symptoms, and Diagnostic Stability  

ERIC Educational Resources Information Center

|In the first year of life, infants who later go on to develop autistic spectrum disorders (ASD) may exhibit subtle disruptions in social interest and attention, communication, temperament, and head circumference growth that occur prior to the onset of clinical symptoms. These disruptions may reflect the early course of ASD development and may…

Webb, Sara Jane; Jones, Emily J. H.

2009-01-01

66

Early-onset Pseudoexfoliation Syndrome following Multiple Intraocular Procedures  

PubMed Central

Purpose To present early-onset ocular manifestations of pseudoexfoliation syndrome in young patients who had undergone multiple intraocular procedures. Methods This is an observational case series, introducing four cases with histories of multiple intraocular procedures for glaucoma. Results All reported cases demonstrated typical manifestations of pseudoexfoliation unilaterally in the eye that had undergone multiple surgeries. The diagnosis of pseudoexfoliation was made prior to the age of 50 in all subjects and the earliest manifestation was at the age of 18 in a case with primary congenital glaucoma Conclusion The role of multiple surgical procedures, in addition to genetic predisposition, should be further investigated as a possible inciting factor predisposing to pseudoexfoliation in younger individuals.

Amini, Heydar; Daneshvar, Ramin; Eslami, Yadollah; Moghimi, Sasan; Amini, Nima

2012-01-01

67

Cytomegalovirus infection in association with early onset pre-eclampsia  

PubMed Central

This case describes a woman who presented with raised ?-fetoprotein (AFP) on second trimester screening, and developed early onset fetal growth restriction (FGR) and severe pre-eclampsia (PET) before 24 weeks' gestation requiring magnesium sulphate and intravenous antihypertensives. Ultrasonography revealed a structurally normal fetus with estimated weight <3rd centile, abnormal uterine artery Dopplers and deteriorating fetal arterial Dopplers over the following 2 weeks. The pregnancy ended in fetal death before a viable weight was reached. Postmortem examination revealed a growth restricted fetus (birth weight <0.4th centile) and chronic villitis secondary to placental cytomegalovirus (CMV) infection. CMV has previously been associated with PET and FGR. This case highlights its potential role in the pathogenesis of placental failure and has relevance for counselling and management for future pregnancies. Furthermore, raised AFP may represent ongoing placental damage and offers potential for future therapeutic measures—for example, antivirals or immunisations to alter the natural history and prognosis of placental infection.

Higgins, L; Vause, S; Tower, C

2010-01-01

68

Living With Her Genes Early Onset Familial Alzheimer's Disease  

NSDL National Science Digital Library

When a 30-year-old genetic counselor learns that her 38-year-old sister has developed early onset familial Alzheimer’s disease (EOFAD), a dominantly inherited disorder that led to their father's death at age 42, she struggles with whether to undergo genetic testing and whether to have children. This interrupted case study examines the impact of genetic testing on people and their families when there is no treatment or cure for a disease. It covers principles of Mendelian inheritance as well as genetic and reproductive technologies ,such as gene tests, pre-implantation genetic diagnosis, and in vitro fertilization. It can be used in introductory biology courses for both majors and non-majors or adapted for more advanced courses in genetics and molecular biology.

Gildensoph, Lynne H.; Stanford, Alice M.; Wygal, Deborah D.

2008-01-01

69

Examining determinants of early and late age at onset in panic disorder: An admixture analysis.  

PubMed

Past research demonstrated that age at onset might account for different clinical and etiological characteristics in panic disorder (PD). However, prior research relied on arbitrary choices of age cut-offs. Using a data-driven validated method, this study aimed to examine differences between early and late onset PD in various determinants. Admixture analysis was used to determine the best fitting model of age at onset distribution in PD. Data was collected from 511 individuals (ages 18-65) with PD diagnoses, who participated in the Netherlands Study of Depression and Anxiety (NESDA). DSM-IV comorbidities and various measures of childhood adversities, suicidal behavior, anxiety and depressive symptoms were assessed. The best fitting cut-off score between early and late age at onset groups was 27 years (early age at onset ? 27 years). Univariate tests showed that participants with early onset PD were younger and more likely to be female. Early onset PD was associated with agoraphobia, higher frequency of childhood trauma and life events, and higher rates of suicide attempts as compared to late onset PD. Multivariate logistic regression analysis demonstrated that only current age, childhood trauma and agoraphobia remained significantly associated with early onset PD. Findings suggest that 27 years marks two onset groups in PD, which are slightly distinct. Early onset PD is independently associated with exposure to childhood trauma and increased avoidance. This highlights the importance of subtyping age of onset in PD. Clinical implications are further discussed. PMID:24084228

Tibi, Lee; van Oppen, Patricia; Aderka, Idan M; van Balkom, Anton J L M; Batelaan, Neeltje M; Spinhoven, Philip; Penninx, Brenda W; Anholt, Gideon E

2013-09-11

70

Early onset multiple sclerosis has worse prognosis than adult onset multiple sclerosis based on cognition and magnetic resonance imaging.  

PubMed

Objectives. In the present study, we aimed to compare the childhood and adult onset multiple sclerosis patients prospectively in their adulthood on the basis of clinical and magnetic resonance imaging (MRI) findings and cognitive impairment, which have not been performed before. Patients and Methods. Forty-six patients in whom the disease onset occurred before 16 years of age were included in the present study. Study subjects were compared with 64 randomly included adult onset patients. Results. Mean disease duration, clinical course, and female to male ratio did not differ in the groups. Cerebellar/brainstem and spinal involvement at onset were significantly higher in EOMS than in AOMS. Difference in MSFC between baseline and at the end of the 5th year was significantly worse in EOMS population (P = 0.02). The most significant difference was found in Paced Auditory Serial Addition Test (PASAT) (P = 0.008). Differences between baseline and at the end of the 5th year on the basis of T1 hypointense lesions were significantly higher in early onset MS than in adult onset MS patients (P = 0.02). Conclusions. Early onset MS seems to have worse prognosis than that of adult onset MS on the basis of clinical manifestation, cognitive impairment, and MRI parameters. PMID:23193441

Ozakbas, Serkan; Kaya, Derya; Idiman, Egemen

2012-11-07

71

A longitudinal transactional risk model for early eating disorder onset.  

PubMed

The presence of binge eating behavior in early middle school predicts future diagnoses and health difficulties. We showed that this early binge eating behavior can be predicted by risk factors assessed in elementary school. We tested the acquired preparedness model of risk, which involves transactions among personality, psychosocial learning, and binge eating. In a sample of 1,906 children assessed in the spring of fifth grade (the last year of elementary school), the fall of sixth grade, and the spring of sixth grade, we found that fifth grade negative urgency (the personality tendency to act rashly when distressed) predicted subsequent increases in the expectancy that eating helps alleviate negative affect, which in turn predicted subsequent increases in binge eating behavior. This transactional risk process appeared to continue to occur at later time points. Negative urgency in the fall of sixth grade was predicted by fifth grade pubertal onset, binge eating behavior, and expectancies. In turn, it predicted increases in high-risk eating expectancies by the spring of sixth grade, and thus heightened risk. PMID:22428790

Pearson, Carolyn M; Combs, Jessica L; Zapolski, Tamika C B; Smith, Gregory T

2012-03-19

72

Early onset neonatal meningitis in Australia and New Zealand, 1992–2002  

Microsoft Academic Search

Objectives: To study the epidemiology of early onset neonatal bacterial meningitis (EONBM) in Australasia.Design: Prospective surveillance study, 1992–2002, in 20 neonatal units in Australia and New Zealand. EONBM was defined as meningitis occurring within 48 hours of delivery.Results: There were 852 babies with early onset sepsis, of whom 78 (9.2%) had EONBM. The incidence of early onset group B streptococcal

M May; A J Daley; S Donath; D Isaacs

2005-01-01

73

Complexity and Comorbidity in a Case of Early-Onset Bipolar Disorder  

Microsoft Academic Search

A reproducible characteristic of early-onset bipolar disorder (BPD) is its atypicality when compared to the adult form. Research and practice consistently confirms early-onset BPD to be chronic rather than acute and continuous rather than episodic, with mixed manic states rather than biphasic and multifarious patterns of comorbidity. Research into successful psychotropic treatments for early-onset BPD is on-going and diverse. Similarly,

Rebecca J. Knowles

2007-01-01

74

Pregnancy and early onset pauciarticular juvenile chronic arthritis  

PubMed Central

OBJECTIVES—To study interaction of early onset pauciarticular juvenile chronic arthritis (EOP-JCA) and pregnancy in the Polish population, in particular to confirm the ameliorating effect of pregnancy on disease activity reported by others and to analyse the factors that govern the occurrence of postpartum flare, with emphasis on the potential role of breast feeding.?METHODS—The reproductive outcome and disease status in 39 adult women with history of EOP- JCA was examined by means of a questionnaire and an interview. In all patients the disease onset occurred before the 6th birthday, 19 had persistent pauciarticular JCA (PeEOP-JCA) and 20 had extended pauciarticular JCA (ExEOP-JCA).?RESULTS—23 women had at least one successful pregnancy, seven had unsuccessful pregnancies but all of them had also one or more successful pregnancies. Among those who have never been pregnant (n=16) there was a higher frequency of eye disease and ExEOP-JCA compared with the rest of the group. In almost all cases pregnancy was associated with remission of disease activity, however a postpartum flare appeared after 22 pregnancies (52%). The flares were more frequent in women who had an active disease before pregnancy, had a flare after a previous pregnancy and/or were breast feeding.?CONCLUSIONS—In EOP-JCA patients pregnancy generally has a good outcome and induces amelioration of disease activity. After delivery, however, a flare of disease often appears, especially in women who were breast feeding, had a postparum flare previously or had an active disease before pregnancy. The pattern of interaction between disease and pregnancy found in EOP-JCA makes EOP-JCA similar in this respect to RA, but different from systemic lupus erythematosus and ankylosing spondylitis.??

Musiej-Nowakowska, E.; Ploski, R.

1999-01-01

75

Early root surface colonization by human periodontal ligament fibroblasts following treatment with different biomaterials.  

PubMed

Abstract Objectives. The present in-vitro study examined the effects of different biomaterials on early root surface colonization by human periodontal ligament (PDL) fibroblasts using confocal-laser-scanning-microscopy (CLSM). Materials and methods. Fifteen periodontally-diseased teeth were extracted, treated with scaling/root planing and longitudinally cut to obtain 30 root fragments. Fragments were treated either with 24% EDTA following application of enamel matrix derivative (EMD), 24% EDTA or EMD only, nanocrystalline hydroxyapatite (NHA) paste or oily calcium hydroxide suspension (OCHS) for 1 h each. The analogue untreated root specimens served as controls. Root fragments were incubated with human PDL fibroblasts and cellular proliferation and morphology were evaluated after 1, 3, 5 and 8 days using CLSM-visualization and image recognition software. Results. The rate of cellular proliferation was different among treatment modalities examined (p = 0.019). Except treatment with NHA paste all treatment modalities improved cellular proliferation on root surfaces at all different points of time compared with the control specimens. A significant difference between treatment modalities was observed between EMD and NHA paste (p = 0.008). No synergistic effect could be demonstrated comparing root surface conditioning with 24% EDTA and EMD application compared to 24% EDTA or EMD application only. Conclusion. The present results suggest that initial root surface colonization by PDL fibroblasts may be enhanced by root surface conditioning with 24% EDTA and application of EMD, application of 24% EDTA or EMD alone and OCHS. The addition of 24% EDTA for root surface conditioning prior to EMD application provided no synergistic effects in terms of early root surface colonization by PDL fibroblasts. PMID:23627845

Kasaj, Adrian; Klein, Marcus O; Dupont, Julia; Willershausen, Brita; Krahn, Ulrike; Götz, Hermann; Zeiler, Johannes; Brüllmann, Dan; Duschner, Heinz

2013-04-29

76

Pervasive developmental disorder and childhood-onset schizophrenia: comorbid disorder or a phenotypic variant of a very early onset illness?  

Microsoft Academic Search

BackgroundChildhood-onset schizophrenia (COS) is a severe form of the adult-onset disorder with a high rate of premorbid developmental abnormalities. Early symptoms of pervasive developmental disorder (PDD) have been reported in five independent studies of COS. In this study, we compared evidence for premorbid PDD as a nonspecific manifestation of impaired neurodevelopment seen in schizophrenia, or as an independent risk factor

Alexandra L. Sporn; Anjené M Addington; Nitin Gogtay; Anna E Ordoñez; Michele Gornick; Liv Clasen; Deanna Greenstein; Julia W Tossell; Peter Gochman; Marge Lenane; Wendy S Sharp; Richard E Straub; Judith L Rapoport

2004-01-01

77

Differences in Early Childhood Risk Factors for Juvenile-Onset and Adult-Onset Depression  

Microsoft Academic Search

Background: Family and twin studies suggest that ju- venile-onset major depressive disorder (MDD) may be etio- logically distinct from adult-onset MDD. This study is the first to distinguish prospectively between juvenile- and adult-onset cases of MDD in a representative birth cohort followed up from childhood into adulthood. Method: The study followed a representative birth cohort prospectively from birth to age

Sara R. Jaffee; Terrie E. Moffitt; Avshalom Caspi; Eric Fombonne; Richie Poulton; Judith Martin

2002-01-01

78

The Maudsley Early-Onset Schizophrenia Study: cognitive function in adolescent-onset schizophrenia  

Microsoft Academic Search

The neuropsychological correlates of adolescent-onset schizophrenia have been investigated very little to date. We assessed intelligence, memory and executive function in 42 patients with adolescent-onset schizophrenia and 43 healthy control subjects. Cases showed impairments in most cognitive variables. Despite the overall similarity with the quantitative and qualitative performance characteristics of later-onset patients in the literature, their cognitive profile displayed a

Eugenia Kravariti; Robin G Morris; Sophia Rabe-Hesketh; Robin M Murray; Sophia Frangou

2003-01-01

79

Serum amyloid A: an early and accurate marker of neonatal early-onset sepsis  

Microsoft Academic Search

Objectives:To evaluate the accuracy of serum amyloid A (SAA), an acute phase protein in the detection of neonatal early-onset sepsis, by means of a fast automated SAA kit.Study Design:Full-term infants <72 h of age, who had risk factors and\\/or were suspected of having sepsis, were eligible for study. The levels of SAA were taken at 0, 24 and 48 h

S Arnon; I Litmanovitz; R H Regev; S Bauer; R Shainkin-Kestenbaum; T Dolfin

2007-01-01

80

Novel mutation in the TOR1A ( DYT1 ) gene in atypical, early onset dystonia and polymorphisms in dystonia and early onset parkinsonism  

Microsoft Academic Search

.   Dystonia is a movement disorder involving sustained muscle contractions and abnormal posturing with a strong hereditary predisposition\\u000a and without a distinct neuropathology. In this study the TOR1A (DYT1) gene was screened for mutations in cases of early onset dystonia and early onset parkinsonism (EOP), which frequently presents\\u000a with dystonic symptoms. In a screen of 40 patients, we identified three

Joanne Chung-on Leung; Christine Klein; Jennifer Friedman; Peter Vieregge; Helfried Jacobs; Dana Doheny; Christoph Kamm; Deborah DeLeon; Peter P. Pramstaller; John B. Penney; Marvin Eisengart; Joseph Jankovic; Thomas Gasser; Susan B. Bressman; David P. Corey; Patricia Kramer; Mitchell F. Brin; Laurie J. Ozelius; Xandra O. Breakefield

2001-01-01

81

Early and late onset bipolar disorders: two different forms of manic-depressive illness?  

Microsoft Academic Search

Background: Conflicting results in genetic studies of bipolar disorders may be due to the clinical and genetic heterogeneity of the disease. Age at onset of bipolar disorders may be a key indicator for identifying more homogeneous clinical subtypes. We tested whether early onset and late onset bipolar illness represent two different forms of bipolar illness in terms of clinical features,

Franck Schürhoff; Frank Bellivier; Roland Jouvent; Marie-Christine Mouren-Siméoni; Manuel Bouvard; Jean-François Allilaire; Marion Leboyer

2000-01-01

82

The predictive score for early-onset neonatal sepsis.  

PubMed

The aim of the present study was to analyze complete blood count (CBC) and C-reactive protein (CRP) levels to create the predictive score for diagnosis of early-onset neonatal sepsis (EONS). All neonates treated for suspected EONS between January 2004 and December 2006 were evaluated from their case record. A diagnosis of EONS was made if either clinical findings consistent with sepsis developed within 72 hours of life, or if positive cultures were obtained. Evaluations for EONS were preformed in 341 neonates, and 199/341 (58.4%) developed EONS. Total white blood count, immature/total ratio, immature/ mature ratio, and CRP levels were found to be independent predictors of EONS, and the predictive score for EONS was created. An increase in the predictive score for EONS was directly correlated with possibility of EONS. Receiver operating characteristic (ROC) curve analysis determined a cut-off value of a predictive score for EONS > 0.503, with sensitivity of 73% and specificity of 89%. Correct prediction of EONS was found in 78% of all neonates, 80% for positive and 75% for negative outcome (p < 0.0001). In conclusion, for its high sensitivity and prediction rates, the predictive score for EONS is useful in diagnostic evaluation of neonates suspected for EONS. PMID:20560248

Selimovic, Amela; Skokic, Fahrija; Bazardzanovic, Mustafa; Selimovic, Zijad

83

Cytomegalovirus infection in association with early onset pre-eclampsia.  

PubMed

This case describes a woman who presented with raised ?-fetoprotein (AFP) on second trimester screening, and developed early onset fetal growth restriction (FGR) and severe pre-eclampsia (PET) before 24 weeks' gestation requiring magnesium sulphate and intravenous antihypertensives. Ultrasonography revealed a structurally normal fetus with estimated weight <3rd centile, abnormal uterine artery Dopplers and deteriorating fetal arterial Dopplers over the following 2 weeks. The pregnancy ended in fetal death before a viable weight was reached. Postmortem examination revealed a growth restricted fetus (birth weight <0.4th centile) and chronic villitis secondary to placental cytomegalovirus (CMV) infection. CMV has previously been associated with PET and FGR. This case highlights its potential role in the pathogenesis of placental failure and has relevance for counselling and management for future pregnancies. Furthermore, raised AFP may represent ongoing placental damage and offers potential for future therapeutic measures--for example, antivirals or immunisations to alter the natural history and prognosis of placental infection. PMID:22789552

Higgins, L; Vause, S; Tower, C

2010-11-09

84

The Maudsley early onset schizophrenia study. Predictors of psychosocial outcome at 4-year follow-up  

Microsoft Academic Search

Objective To examine the contribution of premorbid function, duration of untreated psychosis (DUP), age of onset, severity of symptoms at presentation, and number of subsequent hospitalisations to the outcome of early onset schizophrenia (EOS; onset before 17th birthday). Method Twenty-three EOS patients (mean age at onset 15.16 ± 1.39 years) were re-assessed after a mean interval of 4 ± 1.08 years. At baseline and follow-up clinical

Nora S. Vyas; Michael Hadjulis; Sophia Frangou

2007-01-01

85

Histology of primary incisor enamel in children with early onset celiac disease  

Microsoft Academic Search

The manifestations of celiac disease are a result of nutri- tional malabsorption. An early onset of such malabsorption may jeopardize the primary enamel which is not mineralized. Prepared sections of 10 primary incisors from 10 children with early onset celiac disease were examined using polarized light microscopy to determine if enamel defects were present. Study of the tooth sections dry

Daniel Raether

1988-01-01

86

Verbal and Academic Skills in Children with Early-Onset Type 1 Diabetes  

ERIC Educational Resources Information Center

Aim: Basic verbal and academic skills can be adversely affected by early-onset diabetes, although these skills have been studied less than other cognitive functions. This study aimed to explore the mechanism of learning deficits in children with diabetes by assessing basic verbal and academic skills in children with early-onset diabetes and in…

Hannonen, Riitta; Komulainen, Jorma; Eklund, Kenneth; Tolvanen, Asko; Riikonen, Raili; Ahonen, Timo

2010-01-01

87

Family Functioning and Early Onset of Sexual Intercourse in Latino Adolescents  

ERIC Educational Resources Information Center

|The purpose of this study was to identify factors associated with early onset of sexual intercourse. Within an ecological system's conceptual framework, familial factors associated with early onset of sexual activity were identified in a sample of 425 adolescents from San Juan metro area schools. Measures included questions about sexual activity,…

Velez-Pastrana, Maria C.; Gonzalez-Rodriguez, Rafael A.; Borges-Hernandez, Adalisse

2005-01-01

88

Case Report: Depression vs. Early-Onset Alzheimer Disease: The Genetic Counselor's Role  

Microsoft Academic Search

Awareness of depression in the differential diagnosis of Alzheimer disease is essential for genetic counselors seeing patients at risk for early-onset familial Alzheimer disease (EOFAD). The genetic counselor is in a unique position to recognize depression as the cause of symptoms mimicking early-onset Alzheimer disease. While generating a family medical history, the counselor can evoke significant emotional history as well.

Jill S. Goldman

2001-01-01

89

Verbal and Academic Skills in Children with Early-Onset Type 1 Diabetes  

ERIC Educational Resources Information Center

|Aim: Basic verbal and academic skills can be adversely affected by early-onset diabetes, although these skills have been studied less than other cognitive functions. This study aimed to explore the mechanism of learning deficits in children with diabetes by assessing basic verbal and academic skills in children with early-onset diabetes and in…

Hannonen, Riitta; Komulainen, Jorma; Eklund, Kenneth; Tolvanen, Asko; Riikonen, Raili; Ahonen, Timo

2010-01-01

90

Referral and Experience with Genetic Testing Among Women with Early Onset Breast Cancer  

Microsoft Academic Search

The purpose of this study was to determine whether physicians refer women with early onset breast cancer for genetic testing for BRCA1 and BRCA2, and how women respond to being offered testing and use the re- sults. A web-based survey was distributed to 1221 women with early onset breast cancer. The survey included 158 questions divided into the following sections:

Karen L. Brown; Robin Hutchison; Randi E. Zinberg; Margaret M. McGovern

2005-01-01

91

Early onset Cockayne's syndrome: case reports with neuropathological and fibroblast studies  

Microsoft Academic Search

Two patients with early onset Cockayne's syndrome are presented. In each case there was a striking failure of growth and developmental deterioration around six months of age. It has been suggested that early onset Cockayne's syndrome is a syndrome distinct from Cockayne's syndrome, but when the first patient died aged two years 10 months, examination of the brain showed a

M A Patton; F Giannelli; A J Francis; M Baraitser; B Harding; A J Williams

1989-01-01

92

Early-Onset Schizophrenia: A Literature Review of Empirically Based Interventions  

Microsoft Academic Search

Children presenting with early-onset schizophrenia are now diagnosed utilizing the same criteria as adults with schizophrenia. A review of the literature indicates that there is a dearth of intervention studies specific to the treatment of children diagnosed with early-onset schizophrenia, though this form of schizophrenia is considered to be more severe and chronic. Pharmacological studies specific to children are reviewed

Catherine N. Dulmus; Nancy J. Smyth

2000-01-01

93

Children with Very Early Onset Obsessive-Compulsive Disorder: Clinical Features and Treatment Outcome  

ERIC Educational Resources Information Center

|Background: There is emerging evidence that early onset obsessive-compulsive disorder (OCD) may be a phenomenologically distinct subtype of the disorder. Previous research has shown that individuals who report an early onset display greater severity and persistence of symptoms, and they may be less responsive to treatment. To date, this question…

Nakatani, Eriko; Krebs, Georgina; Micali, Nadia; Turner, Cynthia; Heyman, Isobel; Mataix-Cols, David

2011-01-01

94

Phenotypic differences in early- and late-onset obsessive-compulsive disorder  

Microsoft Academic Search

Early-onset forms of many medical diseases have been associated with specific genetic anomalies. To assess the potential marker value of onset age in obsessive-compulsive disorder (OCD), we examined and compared the phenotypic characteristics of patients with early and later onset. The study sample included 38 children with DSM-IV OCD and 129 adults 19 years of age or older, 77 of

C. Sobin; M. L. Blundell; M. Karayiorgou

2000-01-01

95

Evidence for apolipoprotein E {epsilon}4 association in early-onset Alzheimer`s patients with late-onset relatives  

SciTech Connect

Recently several reports have extended the apolipoprotein E (APOE) {epsilon}4 association found in late-onset Alzheimer`s disease (LOAD) patients to early-onset (EO) AD patients. We have studied this question in a large population of 119 EOAD patients (onset {<=}60 years) in which family history was carefully assessed and in 109 controls. We show that the APOE {epsilon}A allele frequency is increased only in the subset of patients who belong to families where LOAD secondary cases are present. Our sampling scheme permits us to demonstrate that, for an individual, bearing at least one {epsilon}4 allele increases both the risk of AD before age 60 and the probability of belonging to a family with late-onset affected subjects. Our results suggest that a subset of EOAD cases shares a common determinism with LOAD cases. 19 refs., 3 tabs.

Perez-Tur, J.; Delacourte, A.; Chartier-Harlin, M.C. [INSERM, Rouen (France)] [and others

1995-12-18

96

The pharmacology of putative early-onset antidepressant strategies  

Microsoft Academic Search

Depression is a serious and burdensome illness. Although selective serotonin reuptake inhibitors (SSRIs) have improved safety and tolerability of antidepressant treatment efficacy, the delay in the onset of action have not been improved. There is evidence to suggest that the delay in onset of therapeutic activity is a function of the drugs, rather than the disease. This suggests that research

Pierre Blier

2003-01-01

97

Is Parkinson's disease of early onset a separate disease entity?  

Microsoft Academic Search

Two groups of patients suffering from Parkinson's disease were studied. The first group consisted of 23 patients with an onset age before 40 years; in the second group of 21 patients the onset was after age 50. The clinical findings and the course of the disease were very similar in each group. In spite of a longer disease duration in

Sabina M. Ludin; H. P. Ludin

1989-01-01

98

Role of the NK cell-activating receptor CRACC in periodontitis.  

PubMed

Periodontitis is a highly prevalent, biofilm-mediated chronic inflammatory disease that results in the loss of the tooth-supporting tissues. It features two major clinical entities: chronic periodontitis, which is more common, and aggressive periodontitis, which usually has an early onset and a rapid progression. Natural killer (NK) cells are a distinct subgroup of lymphocytes that play a major role in the ability of the innate immune system to steer immune responses. NK cells are abundant in periodontitis lesions, and NK cell activation has been causally linked to periodontal tissue destruction. However, the exact mechanisms of their activation and their role in the pathophysiology of periodontitis are elusive. Here, we show that the predominant NK cell-activating molecule in periodontitis is CD2-like receptor activating cytotoxic cells (CRACC). We show that CRACC induction was significantly more pronounced in aggressive than chronic periodontitis and correlated positively with periodontal disease severity, subgingival levels of specific periodontal pathogens, and NK cell activation in vivo. We delineate how Aggregatibacter actinomycetemcomitans, an oral pathogen that is causally associated with aggressive periodontitis, indirectly induces CRACC on NK cells via activation of dendritic cells and subsequent interleukin 12 (IL-12) signaling. In contrast, we demonstrate that fimbriae from Porphyromonas gingivalis, a principal pathogen in chronic periodontitis, actively attenuate CRACC induction on NK cells. Our data suggest an involvement of CRACC-mediated NK cell activation in periodontal tissue destruction and point to a plausible distinction in the pathobiology of aggressive and chronic periodontitis that may help explain the accelerated tissue destruction in aggressive periodontitis. PMID:23250953

Krämer, Benjamin; Kebschull, Moritz; Nowak, Michael; Demmer, Ryan T; Haupt, Manuela; Körner, Christian; Perner, Sven; Jepsen, Søren; Nattermann, Jacob; Papapanou, Panos N

2012-12-17

99

Role of the NK Cell-Activating Receptor CRACC in Periodontitis  

PubMed Central

Periodontitis is a highly prevalent, biofilm-mediated chronic inflammatory disease that results in the loss of the tooth-supporting tissues. It features two major clinical entities: chronic periodontitis, which is more common, and aggressive periodontitis, which usually has an early onset and a rapid progression. Natural killer (NK) cells are a distinct subgroup of lymphocytes that play a major role in the ability of the innate immune system to steer immune responses. NK cells are abundant in periodontitis lesions, and NK cell activation has been causally linked to periodontal tissue destruction. However, the exact mechanisms of their activation and their role in the pathophysiology of periodontitis are elusive. Here, we show that the predominant NK cell-activating molecule in periodontitis is CD2-like receptor activating cytotoxic cells (CRACC). We show that CRACC induction was significantly more pronounced in aggressive than chronic periodontitis and correlated positively with periodontal disease severity, subgingival levels of specific periodontal pathogens, and NK cell activation in vivo. We delineate how Aggregatibacter actinomycetemcomitans, an oral pathogen that is causally associated with aggressive periodontitis, indirectly induces CRACC on NK cells via activation of dendritic cells and subsequent interleukin 12 (IL-12) signaling. In contrast, we demonstrate that fimbriae from Porphyromonas gingivalis, a principal pathogen in chronic periodontitis, actively attenuate CRACC induction on NK cells. Our data suggest an involvement of CRACC-mediated NK cell activation in periodontal tissue destruction and point to a plausible distinction in the pathobiology of aggressive and chronic periodontitis that may help explain the accelerated tissue destruction in aggressive periodontitis.

Kramer, Benjamin; Kebschull, Moritz; Nowak, Michael; Demmer, Ryan T.; Haupt, Manuela; Korner, Christian; Perner, Sven; Jepsen, S?ren

2013-01-01

100

Early-onset obsessive-compulsive disorder and personality disorders in adulthood.  

PubMed

Obsessive-compulsive disorder (OCD) often emerges in childhood or adolescence. The aim of the present study was to evaluate whether adult patients with prepuberal onset differ from subjects with later onset in terms of personality disorder comorbidity. The Structured Clinical Interview for DSM-IV Axis II Disorders was used to assess 148 patients with a principal diagnosis of OCD according to the Structured Clinical Interview for DSM-IV Axis I Disorders. The following two subgroups of subjects were selected according to the age at onset of symptomatology: patients with an early-onset (< or =10 years), and patients with a later onset (> or =17 years). Of the 148 patients screened for the present study, 33 (22.3%) had an early onset and 1369 (46.6%) had a later onset. With regard to personality disorders, early-onset patients showed more OC personality disorders (OCPD) than later onset patients. Our finding suggests that OCD in childhood increases the risk for developing OCPD in adulthood, or that early-onset OCD and OCPD share a common pathogenesis. PMID:18237785

Maina, Giuseppe; Albert, Umberto; Salvi, Virginio; Pessina, Enrico; Bogetto, Filippo

2008-01-30

101

HIV-Negative Status Is Associated With Very Early Onset of Lactation Among Ghanaian Women  

PubMed Central

This is a longitudinal cohort study investigating the association between maternal HIV status and the reported onset of lactation. The Research to Improve Infant Nutrition and Growth project recruited 442 mothers from 3 antenatal clinics in the eastern region of Ghana, based on positive, negative, and unknown HIV status. Onset of lactation was assessed by maternal perception and validated with 2 subsamples: measurement of infant breast milk intake (n = 40) and daily infant weight measurement for 2 weeks (n = 150). Multivariate logistic regression was used to identify predictors of very early onset of lactation (onset of lactation < 6 hours). Predictors of very early onset of lactation include HIV-negative status (odds ratio = 2.68; P = .014), multiparity (odds ratio = 2.93; P = .009), vaginal delivery (odds ratio = 2.55; P = .035), and having a male child (odds ratio = 1.86; P = .032). The findings indicate an association between maternal HIV status and very early onset of lactation.

Otoo, Gloria E.; Marquis, Grace S.; Sellen, Daniel W.; Chapman, Donna J.; Perez-Escamilla, Rafael

2011-01-01

102

TPIT mutations are associated with early-onset, but not late-onset isolated ACTH deficiency  

Microsoft Academic Search

Objective: Congenital isolated ACTH deficiency (IAD) is a rare inherited disorder that is clinically and genetically heterogeneous. Patients are characterised by low or absent cortisol production secondary to low plasma ACTH despite normal secretion of other pituitary hormones and the absence of struc- tural pituitary defects. Onset may occur in the neonatal period, but may first be observed in later

L A Metherell; M O Savage; M Dattani; J Walker; P E Clayton; I S Farooqi; A J L Clark

2004-01-01

103

Language reorganization in early onset temporal lobe epilepsy.  

PubMed

Behavioral and functional magnetic resonance imaging (fMRI) studies have consistently shown abnormalities of language function or cortical organization in patients with well-established temporal lobe epilepsy (TLE). However, whether these changes are present in new-onset TLE has not been studied to date. Studying such changes in new-onset TLE would provide valuable insight into the timing and factors that affect language deficits in TLE and may unmask fundamental differences in brain organization in persons who have TLE and those who do not. PMID:21732943

Federico, Paolo

2011-07-01

104

Itraconazole may increase the risk of early-onset bortezomib-induced peripheral neuropathy.  

PubMed

Bortezomib (BOR) is an effective drug for the treatment of multiple myeloma and BOR-induced peripheral neuropathy (BIPN) is a major adverse event. BIPN tends to occur after two or three cycles of treatment (late-onset BIPN), but may occur during the first treatment cycle (early-onset BIPN). BIPN severity was retrospectively assessed and graded in 48 patients with relapsed or refractory multiple myeloma treated with BOR for the first time between June 2007 and February 2011 at Keio University Hospital. PN grade 2 or higher occurring within the first cycle of BOR was defined as early-onset severe BIPN. Early-onset severe BIPN occurred in 13 patients. Concomitant use of itraconazole [ITCZ: odds ratio (OR) 29.14 (3.02-281.56), p = 0.004] and a proton pump inhibitor [OR 9.00 (1.05-77.1), p = 0.04] were identified by univariate analysis, as risk factors for developing early-onset severe BIPN. Based on multivariate analysis, concomitant use of ITCZ was the only significant risk factor for developing early-onset severe BIPN [OR 19.00 (1.89-190.96), p = 0.01]. Concomitant use of ITCZ with BOR significantly increased the incidence of early-onset severe BIPN in our study population, suggesting that administration of ITCZ in patients receiving BOR should be avoided. PMID:23179905

Hashimoto, Norisato; Yokoyama, Kenji; Sadahira, Ken; Ueda, Tomoki; Tsukada, Yuiko; Okamoto, Shinichiro

2012-11-22

105

Deferred and immediate imitation in regressive and early onset autism  

Microsoft Academic Search

Deferred imitation has long held a privileged position in early cognitive development, considered an early marker of representational thought with links to language development and symbolic processes. Children with autism have difficulties with several abilities generally thought to be related to deferred imitation: immediate imitation, language, and symbolic play. However, few studies have examined deferred imitation in early autism. The

Sally J. Rogers; Gregory S. Young; Ian Cook; Angelo Giolzetti; Sally Ozonoff

2008-01-01

106

Early-onset myasthenia gravis: Clinical characteristics and response to therapy  

Microsoft Academic Search

We studied 59 children with myasthenia gravis (MG). Disease onset was pre-pubertal in 26 patients and post-pubertal in 33. The male to female ratio was 0.62 in the early- and 0.17 in the late-onset groups. The frequency of ocular MG was higher in patients with prepubertal onset. Patients with generalized MG generally showed a good response to thymectomy and corticosteroid

A. P. Batocchi; A. Evoli; M. T. Palmisani; M. Lo Monaco; M. Bartoccioni; P. Tonali

1990-01-01

107

Early-onset schizophrenia as a progressive-deteriorating developmental disorder: evidence from child psychiatry  

Microsoft Academic Search

Summary.   The developmental perspective as reflected by investigations of childhood and early-onset schizophrenia has become a major\\u000a research area during recent years and contributed much to the understanding of schizophrenia at all ages.\\u000a \\u000a This paper reviews clinical features, neurobiological and neuropsychological findings in childhood and adolescent onset schizophrenia\\u000a including some results of studies of the author on age at onset,

H. Remschmidt

2002-01-01

108

Microsatellite instability in early onset and familial colorectal cancer  

Microsoft Academic Search

Hereditary non-polyposis colorectal cancer syndrome (HNPCC) is often considered to be the most common form of inherited colorectal cancer, although its precise incidence is unknown. The clinical diagnosis of HNPCC relies on a combination of family history and young age of onset of colorectal cancer, but as many familial aggregations of colorectal cancer do not fulfil the strict diagnostic criteria,

C Brassett; J A Joyce; N J Froggatt; G Williams; D Furniss; S Walsh; R Miller; D G Evans; E R Maher

1996-01-01

109

Early Onset of Puberty: Tracking Genetic and Environmental Factors  

Microsoft Academic Search

Under physiological conditions, factors affecting the genetic control of hypothalamic functions are predominant in determining the individual variations in timing of pubertal onset. In pathological conditions, however, these variations can involve different genetic susceptibility and the interaction of environmental factors. The high incidence of precocious puberty in foreign children migrating to Belgium and the detection in their plasma of a

Anne-Simone Parent; Gregory Rasier; Arlette Gerard; Sabine Heger; Christian Roth; Claudio Mastronardi; Heike Jung; Sergio R. Ojeda; Jean-Pierre Bourguignon

2005-01-01

110

Early onset pneumonia: a multicenter study in intensive care units  

Microsoft Academic Search

A prospective multicenter study concerning the incidence, onset time, risk factors and mortality of pneumonia was carried out by the Intensive Care Units Collaborative Group for Infection Control in Lombardy, Northern Italy. Out of 1304 patients admitted over 3 months in 16 intensive care units (ICUs), 441 met the criteria for the protocol (no previous pulmonary infection or irreversible terminal

M. Langer; M. Cigada; M. Mandelli; P. Mosconi; G. Tognoni

1987-01-01

111

A pilot study of Er,Cr:YSGG laser therapy used as an adjunct to scaling and root planing in patients with early and moderate periodontitis  

Microsoft Academic Search

SUMMARY Objectives: The study aim was to compare the results of an Er,Cr:YSGG laser therapy used in adjunct to scaling and root planing (SRP), and of SRP alone, in a small group of patients with early to moderate periodontitis. Materials and methods: ten adult patients with periodontitis were treated according to split-mouth design, using Protocol A (SRP alone) or, Protocol

Solveiga Kelbauskiene

2007-01-01

112

The impact of early-onset cannabis use on functional brain correlates of working memory  

Microsoft Academic Search

Cannabis is the most commonly used illicit drug. Prevalence rates are particularly high among adolescents. Neuropsychological studies have identified cannabis-associated memory deficits, particularly linked to an early onset of use. However, it remains unclear, whether the age of onset accounts for altered cortical activation patterns usually observed in cannabis users. Functional magnetic resonance imaging was used to examine cortical activation

Benjamin Becker; Daniel Wagner; Euphrosyne Gouzoulis-Mayfrank; Elmar Spuentrup; Jörg Daumann

2010-01-01

113

Early Onset Eating Disorders in Male Adolescents: A Series of 10 Inpatients  

Microsoft Academic Search

Objective: This case series aims to describe the demographic and clinical features of male inpatients with early onset eating disorders.Method: Retrospective review was made of medical files of male patients treated for eating disorders at two children's hospitals over a 2 year period, with an onset of eating disorder before age 14 years, presenting for index admission. Demographic characteristics, DSM-IV

Adam Bayes; Sloane Madden

2011-01-01

114

Risk factors and characteristics of early-onset asthma in Taiwanese children  

Microsoft Academic Search

Background and Purpose: Early-onset asthma has been reported to be associated with a family history of allergy and exposure to environmental factors. This study was designed to evaluate the relationship between age of onset of asthma and genetic and environmental factors with asthma severity in Taiwanese children. Methods: A group of 352 children with asthma (220 males and 132 females),

Pei-Hsuan Liang; Shyh-Dar Shyur; Li-Hsin Huang; Da-Chin Wen; Yi-Chi Chiang; Mao-Tsair Lin; Hwai-Chih Yang

115

White Matter Abnormalities in Early-Onset Schizophrenia: A Voxel-Based Diffusion Tensor Imaging Study  

ERIC Educational Resources Information Center

|Objective: To investigate abnormalities in the structural integrity of brain white matter as suggested by diffusion tensor imaging in adolescents with early-onset schizophrenia (onset of psychosis by age 18). Method: Twenty-six patients with schizophrenia and 34 age- and gender-matched healthy volunteers received diffusion tensor imaging and…

Kumra, Sanjiv; Ashtari, Manzar; Cervellione, Kelly L.; Henderson, Inika; Kester, Hana; Roofeh, David; Wu, Jinghui; Clarke, Tana; Thaden, Emily; Kane, John M.; Rhinewine, Joseph; Lencz, Todd; Diamond, Alan; Ardekani, Babak A.; Szeszko, Philip R.

2005-01-01

116

Early-Onset Obsessive-Compulsive Disorder: A Subgroup with a Specific Clinical and Familial Pattern?  

ERIC Educational Resources Information Center

|Background: The familial nature of obsessive-compulsive disorder (OCD) has been previously demonstrated. The identification of candidate symptoms such as age at onset may help to disentangle the clinical and genetic heterogeneity of the disorder. In this study, the specificity of early-onset OCD was investigated, focusing on the effect of gender,…

Chabane, Nadia; Delorme, Richard; Millet, Bruno; Mouren, Marie-Christine; Leboyer, Marion; Pauls, David

2005-01-01

117

Clinical and electroencephalographic findings in early and late onset benign childhood epilepsy with occipital paroxysms  

Microsoft Academic Search

Twenty-six patients were studied who had the clinical and electroencephalographic features of benign childhood epilepsy with occipital paroxysms (BCEOP) as defined by the Commission of the International League Against Epilepsy (ILAE). Twelve patients were characterized as having early-onset benign childhood occipital seizures (EBOS) susceptible syndrome, as described by Panayiotopoulos, and 14 patients had late onset childhood idiopathic occipital seizures (LOS).

Min-Lan Tsai; Hsin-Yu Lo; Wun-Tsong Chaou

2001-01-01

118

Voxel-based structural magnetic resonance imaging (MRI) study of patients with early onset schizophrenia  

Microsoft Academic Search

BACKGROUND: Investigation into the whole brain morphology of early onset schizophrenia (EOS) to date has been sparse. We studied the regional brain volumes in EOS patients, and the correlations between regional volume measures and symptom severity. METHODS: A total of 18 EOS patients (onset under 16 years) and 18 controls matched for age, gender, parental socioeconomic status, and height were

Yujiro Yoshihara; Genichi Sugihara; Hideo Matsumoto; John Suckling; Katsuhiko Nishimura; Takao Toyoda; Haruo Isoda; Kenji J Tsuchiya; Kiyokazu Takebayashi; Katsuaki Suzuki; Harumi Sakahara; Kazuhiko Nakamura; Norio Mori; Nori Takei

2008-01-01

119

Review: Early-onset type 2 diabetes mellitus: a condition with elevated cardiovascular risk?  

Microsoft Academic Search

The age of onset of type 2 diabetes mellitus is falling and this condition has become increasingly common among those aged under 30 years including children and adolescents. Early-onset type 2 diabetes has been reported in various countries from different ethnic and cultural backgrounds reflecting the effects of sedentary lifestyle as part of globalisation and industrialisation affecting all societies. The

Soon H Song

2008-01-01

120

Estrogen use and early onset Alzheimer's disease: a population-based study  

Microsoft Academic Search

Estrogen use may be protective for Alzheimer's disease with late onset. However, the effects on early onset Alzheimer's disease are unclear. This issue was studied in a population based setting. For each female patient, a female control was matched on age (within 5 years) and place of residence. Information on estrogen use and other risk factors were, for cases (n=109)

Arjen J C Slooter; Juliana Bronzova; Jaqueline C M Witteman; Christine Van Broeckhoven; Albert Hofman; Cornelia M van Duijn

1999-01-01

121

Anorexia nervosa with an early onset: Selection, gender, outcome, and results of a long-term follow-up study  

Microsoft Academic Search

Teen-age onset has been a characteristic trait of anorexia nervosa from the early descriptions and onward. Early onset may be defined by using an age limit or by using menarche as a biological age limit. A review of the literature indicates that there are relatively more boys among patients with an extremely early onset. When patients are recruited exclusively from

Sten Theander

1996-01-01

122

Treatment of Early Onset Schizophrenia: Recent Trends, Challenges and Future Considerations  

PubMed Central

Early onset schizophrenia (onset before adulthood) is a rare, severe, and chronic form of schizophrenia. The clinical presentation of schizophrenia at this unusually early age of onset has been associated with premorbid developmental abnormalities, poor response to neuroleptic treatment, greater admission rates, and poor prognosis. This is a brief, condensed review of current treatment strategies for the early onset population highlighting the need for novel treatment strategies for these generally treatment-refractory cases. Based on the current literature, second-generation antipsychotics remain the mainstay of treatment, although current medications provide suboptimal response at best. Based on the adult literature, combining antipsychotic treatment with psychotherapeutic intervention may be a more comprehensive treatment strategy. Indeed, early detection, identification of relevant biomarkers, coupled with advancing knowledge of the neurochemical and neuroanatomic pathways may help design informed and novel treatment strategies.

Vyas, Nora S.; Gogtay, Nitin

2012-01-01

123

Benign Hereditary Chorea of Early Onset Maps to Chromosome 14q  

Microsoft Academic Search

Benign hereditary chorea (BHC) is an autosomal dominant disorder\\u000a characterized by an early-onset nonprogressive chorea. The early onset and\\u000a the benign course distinguishes BHC from the more common Huntington\\u000a disease (HD). Previous studies on families with BHC have shown that BHC\\u000a and HD are not allelic. We studied a large Dutch kindred with BHC and\\u000a obtained strong evidence for linkage

Bert B. A. de Vries; Willem F. M. Arts; Guido J. Breedveld; Jeannette J. M. Hoogeboom; Martinus F. Niermeijer; Peter Heutink

2000-01-01

124

Correlates of alcohol abuse/dependence in early-onset alcohol-using women  

PubMed Central

Background Early-onset alcohol use is associated with increased vulnerability to subsequent alcohol abuse and dependence. However, not all early-onset alcohol users develop alcohol use disorders (AUDs). Using a sample of young women from the U.S., we identify correlates that contribute to a greater likelihood of AUDs in early-onset alcohol users. Methods Using interview and questionnaire data on participants of the Missouri Adolescent Female Twin Study (MOAFTS), we examine whether measures from domains including socio-demographic, pubertal development, religiosity, educational achievement, adverse life events, internalizing disorders, externalizing disorders and family history and discipline were associated with development of AUDs in 1,158 women who had their first drink of alcohol prior to age 16. Results Early-onset drinkers were 3.6 times more likely to meet criteria for AUDs than later onset drinkers. While univariate analyses revealed that a host of correlates were associated with likelihood of AUDs in early-onset drinkers, multivariate analyses suggested that, even after accounting for a particularly early age of onset of drinking, those with a history of physical abuse, co-twin alcohol problems, conduct disorder, regular smoking, older peers and peer substance use were considerably more likely to meet criteria for AUDs than early onset drinkers without a lifetime history of these correlates. Conclusion The progression from first drink to AUDs is complex, and while early age at first drink is a potent risk factor, other aspects of psychopathology, family history, conduct problems and peer affiliations can exacerbate or alleviate the risk of AUDs in these young female drinkers.

Jenkins, Mitchell B.; Agrawal, Arpana; Lynskey, Michael T.; Nelson, Elliot C.; Madden, Pamela A. F.; Bucholz, Kathleen K.; Heath, Andrew C.

2012-01-01

125

Early onset of lithium prophylaxis as a predictor of good long-term outcome  

Microsoft Academic Search

The recurrence rates during lithium preventive treatment were investigated in a sample of 270 Mood Disorder subjects subdivided\\u000a according to their onset time for lithium prophylaxis as very early (within 5 years from the onset of illness), early (6–10\\u000a years), late (11–20 years) and very late (more than 21 years). 131 subjects of the sample followed for 4 years prolonged

L. Franchini; R. Zanardi; E. Smeraldi; M. Gasperini

1999-01-01

126

Neonatal Early-onset Group B Streptococcal Disease in the Era of Intrapartum Chemoprophylaxis: Residual Problems  

Microsoft Academic Search

OBJECTIVE: To identify limitations of current strategies for intrapartum prophylaxis of neonatal early-onset group B streptococcal infection.METHODS: Retrospective review of infants with culture-proven early-onset group B streptococcal infection admitted to two nurseries and their mothers from July 1992, when ACOG and AAP guidelines for intrapartum prophylaxis were first issued, through December 2001. Information was recorded regarding clinical risk factors for

Nelangi M Pinto; Errol I Soskolne; Mark D Pearlman; Roger G Faix

2003-01-01

127

Early age of onset in fatal familial insomnia  

Microsoft Academic Search

Fatal familial insomnia (FFI) is a prion disease exhibiting the PRNP D178N\\/129M genotype. Features of this autosomal dominant illness are progressive insomnia, dysautonomia, myoclonus, cognitive decline and motor signs associated with thalamic nerve cell loss and gliosis. In contrast to the new variant of Creutzfeldt-Jakob disease (vCJD) the onset of FFI is in middle to late adulthood. We report two

T. Wirth; F. Kreuz; W. J. Schulz-Schaeffer; O. Windl; M. Plotkin; H. Amthauer; K. Neukirch; H. A.. Kretzschmar; T. Kuhlmann; R. Braas; H. H. Hahne; K. Jendroska

2004-01-01

128

Evidence for Three Loci Modifying Age-at-Onset of Alzheimer's Disease in Early-Onset PSEN2 Families  

PubMed Central

Families with early-onset Alzheimer’s disease (AD) sharing a single PSEN2 mutation exhibit a wide range of age-at-onset, suggesting that modifier loci segregate within these families. While APOE is known to be an age-at-onset modifier, it does not explain all of this variation. We performed a genome scan within nine such families for loci influencing age-at-onset, while simultaneously controlling for variation in the primary PSEN2 mutation (N141I) and APOE. We found significant evidence of linkage between age-at-onset and chromosome 1q23.3 (P < 0.001) when analysis included all families, and to chromosomes 1q23.3 (P < 0.001), 17p13.2 (P = 0.0002), 7q33 (P = 0.017), and 11p14.2 (P = 0.017) in a single large pedigree. Simultaneous analysis of these four chromosomes maintained strong evidence of linkage to chromosomes 1q23.3 and 17p13.2 when all families were analyzed, and to chromosomes 1q23.3, 7q33, and 17p13.2 within the same single pedigree. Inclusion of major gene covariates proved essential to detect these linkage signals, as all linkage signals dissipated when PSEN2 and APOE were excluded from the model. The four chromosomal regions with evidence of linkage all coincide with previous linkage signals, associated SNPs, and/or candidate genes identified in independent AD study populations. This study establishes several candidate regions for further analysis and is consistent with an oligogenic model of AD risk and age-at-onset. More generally, this study also demonstrates the value of searching for modifier loci in existing datasets previously used to identify primary causal variants for complex disease traits.

Marchani, Elizabeth E.; Bird, Thomas D.; Steinbart, Ellen J.; Rosenthal, Elisabeth; Yu, Chang-En; Schellenberg, Gerard D.; Wijsman, Ellen M.

2011-01-01

129

A Longitudinal Transactional Risk Model for Early Eating Disorder Onset  

Microsoft Academic Search

The presence of binge eating behavior in early middle school predicts future diagnoses and health difficulties. We showed that this early binge eating behavior can be predicted by risk factors assessed in elementary school. We tested the acquired preparedness model of risk, which involves transactions among personality, psychosocial learning, and binge eating. In a sample of 1,906 children assessed in

Carolyn M. Pearson; Jessica L. Combs; Tamika C. B. Zapolski; Gregory T. Smith

2012-01-01

130

The effect of early onset common mental disorders on educational attainment in Australia.  

PubMed

Early onset mental disorders may lead to the early termination of education and thereby have long term adverse social and economic consequences on outcomes such as employment and financial security. This issue is important to address as governments seek to develop new ways to minimise the impacts of mental health problems and maximise workforce participation. The current investigation examines the impact of early onset affective, anxiety and substance use disorders on the early termination of secondary school education in Australia. The analyses used data from those aged between 20 and 34 in the 2007 Australian National Survey of Mental Health and Wellbeing (NSMHWB) (n=2055). The NSMHWB is a population based survey administered by the Australian Bureau of Statics and included a WMH-CIDI 3.0 assessment to determine whether respondents met diagnostic criteria for any lifetime affective, anxiety, and/or substance use disorder as well as age of onset information. The results show that early onset mental disorders are significantly associated with the termination of secondary education in Australia, particularly early onset substance use disorders such as alcohol, cannabis and stimulant use. These disorders were most likely to disrupt completion in the middle years of high school (year 10 completion), in comparison to the final year 12 milestone. Policies and interventions promoting prevention and early intervention and offering educational support for young people with psychiatric illness and substance use problems, should intervene prior to the middle years of high school to help prevent adverse social and economic consequences. PMID:22507527

Leach, Liana Sarma; Butterworth, Peter

2012-04-14

131

Genetics Home Reference: Early-onset primary dystonia  

MedlinePLUS

... critical for the normal development and function of nerve cells in the brain. A mutation in the TOR1A ... The altered protein's effect on the function of nerve cells in the brain is unclear. People with early- ...

132

The effects of childhood ADHD symptoms on early-onset substance use: a Swedish twin study.  

PubMed

Research has documented that children and adolescents with attention-deficit/hyperactivity disorder (ADHD) are at increased risk of substance use problems. Few studies, however, have focused on early-onset substance use. This study therefore investigated how the two symptom dimensions of ADHD (hyperactivity/impulsivity and inattention) are associated with early-onset substance use, the role of persistent ADHD for the association, and to what extent the association is influenced by genetic and environmental factors. Twins (1,480 pairs) in the Swedish Twin Study of Child and Adolescent Development were followed from childhood to adolescence. ADHD symptoms were measured at age 8-9 and age 13-14 via parent-report, whereas substance use was assessed at age 13-14 via self-report. Results revealed that hyperactive/impulsive symptoms predicted early-onset "sometimes" tobacco use (adjusted odds ratios, 1.12, for one symptom count), controlling for inattentive symptoms and conduct problem behaviors. There is no independent effect of inattentive symptoms on early-onset substance use. Children with persistent hyperactivity/impulsivity (defined as scoring above the 75th percentile at both time points) had a pronounced risk of both early-onset tobacco and alcohol use (adjusted odds ratios from 1.86 to 3.35, compared to the reference group). The associations between hyperactivity/impulsivity and early-onset substance use were primarily influenced by genetic factors. Our results indicated that hyperactivity/impulsivity, but not inattention, is an important early predictor for early-onset substance use, and a shared genetic susceptibility is suggested to explain this association. PMID:21947618

Chang, Zheng; Lichtenstein, Paul; Larsson, Henrik

2012-04-01

133

Management of neonates with suspected or proven early-onset bacterial sepsis.  

PubMed

With improved obstetrical management and evidence-based use of intrapartum antimicrobial therapy, early-onset neonatal sepsis is becoming less frequent. However, early-onset sepsis remains one of the most common causes of neonatal morbidity and mortality in the preterm population. The identification of neonates at risk for early-onset sepsis is frequently based on a constellation of perinatal risk factors that are neither sensitive nor specific. Furthermore, diagnostic tests for neonatal sepsis have a poor positive predictive accuracy. As a result, clinicians often treat well-appearing infants for extended periods of time, even when bacterial cultures are negative. The optimal treatment of infants with suspected early-onset sepsis is broad-spectrum antimicrobial agents (ampicillin and an aminoglycoside). Once a pathogen is identified, antimicrobial therapy should be narrowed (unless synergism is needed). Recent data suggest an association between prolonged empirical treatment of preterm infants (?5 days) with broad-spectrum antibiotics and higher risks of late onset sepsis, necrotizing enterocolitis, and mortality. To reduce these risks, antimicrobial therapy should be discontinued at 48 hours in clinical situations in which the probability of sepsis is low. The purpose of this clinical report is to provide a practical and, when possible, evidence-based approach to the management of infants with suspected or proven early-onset sepsis. PMID:22547779

Polin, Richard A

2012-04-30

134

Predictors of Early-Onset Permanent Hearing Loss in Malnourished Infants in Sub-Saharan Africa  

ERIC Educational Resources Information Center

The objective of this study was to determine the predictors of early-onset permanent hearing loss (EPHL) among undernourished infants in a low-income country where routine screening for developmental disabilities in early childhood is currently unattainable. All infants attending four community-based clinics for routine immunization who met the…

Olusanya, Bolajoko O.

2011-01-01

135

Depression and Anxiety Symptoms: Onset, Developmental Course and Risk Factors during Early Childhood  

ERIC Educational Resources Information Center

|Background: Depressive and anxiety disorders are among the top ten leading causes of disabilities. We know little, however, about the onset, developmental course and early risk factors for depressive and anxiety symptoms (DAS). Objective: Model the developmental trajectories of DAS during early childhood and to identify risk factors for…

Cote, Sylvana M.; Boivin, Michel; Liu, Xuecheng; Nagin, Daniel S.; Zoccolillo, Mark; Tremblay, Richard E.

2009-01-01

136

Characterization of a model of early-onset diet induced obesity and mammary tumorigenesis  

Microsoft Academic Search

Obesity is a major health concern and a risk factor for increased tumor aggressiveness and mortality in premenopausal women. The recent epidemic of childhood obesity emphasizes a need to determine the influence of early increases in adiposity on cancer. To begin addressing this issue, we describe the characterization of an outbred rat model of early-onset diet induced obesity (DIO) and

Charles W. Rehrer

2010-01-01

137

Molecular cloning of BRCA1: a gene for early onset familial breast and ovarian cancer  

Microsoft Academic Search

Molecular analyses allow one to determine genetic lesions occurring early in the development of tumors. With positional cloning approaches we are searching for a gene involved in the development of early onset familial breast and ovarian cancer that maps to human chromosome 17q21 and is termed BRCA1. This involves localizing the region genetically within families with multiply affected members, capturing

Anne M. Bowcock

1993-01-01

138

Predictors of Early-Onset Permanent Hearing Loss in Malnourished Infants in Sub-Saharan Africa  

ERIC Educational Resources Information Center

|The objective of this study was to determine the predictors of early-onset permanent hearing loss (EPHL) among undernourished infants in a low-income country where routine screening for developmental disabilities in early childhood is currently unattainable. All infants attending four community-based clinics for routine immunization who met the…

Olusanya, Bolajoko O.

2011-01-01

139

Non-DYT1 early-onset primary torsion dystonia: Comparison with DYT1 phenotype and review of the literature  

Microsoft Academic Search

To investigate the clinical features of early-onset primary torsion dystonia (EO-PTD), 57 consecutive genetically characterized patients with onset before 21 years were studied. Sex, ethnic origin, family history of dystonia, age at onset, disease duration, site of dystonia onset and distribution at latest examination, dystonia progression, time to generalization, and motor disability were noted. The 14 patients (25%) with GAG

Alfonso Fasano; Nardo Nardocci; Antonio Emanuele Elia; Giovanna Zorzi; Anna Rita Bentivoglio; Alberto Albanese

2006-01-01

140

Familial liability, obstetric complications and childhood development abnormalities in early onset schizophrenia: a case control study  

Microsoft Academic Search

Background  Genetic and environmental risk factors and gene-environment interactions are linked to higher likelihood of developing schizophrenia\\u000a in accordance with the neurodevelopmental model of disease; little is known about risk factors and early development in early-onset\\u000a schizophrenia (EOS) and very early-onset schizophrenia (VEOS).\\u000a \\u000a \\u000a \\u000a \\u000a Methods  We present a case-control study of a sample of 21 patients with EOS\\/VEOS and a control group of

Francesco Margari; Maria G Petruzzelli; Paola A Lecce; Orlando Todarello; Andrea De Giacomo; Elisabetta Lucarelli; Domenico Martinelli; Lucia Margari

2011-01-01

141

Common variants at five new loci associated with early-onset inflammatory bowel disease  

PubMed Central

The inflammatory bowel diseases (IBD) Crohn’s disease and ulcerative colitis are common causes of morbidity in children and young adults in the western world. Here we report the results of a genome-wide association study in early-onset IBD involving 3,426 affected individuals and 11,963 genetically matched controls recruited through international collaborations in Europe and North America, thereby extending the results from a previous study of 1,011 individuals with early-onset IBD1. We have identified five new regions associated with early-onset IBD susceptibility, including 16p11 near the cytokine gene IL27 (rs8049439, P = 2.41 × 10?9), 22q12 (rs2412973, P = 1.55 × 10?9), 10q22 (rs1250550, P = 5.63 × 10?9), 2q37 (rs4676410, P = 3.64 × 10?8) and 19q13.11 (rs10500264, P = 4.26 × 10?10). Our scan also detected associations at 23 of 32 loci previously implicated in adult-onset Crohn’s disease and at 8 of 17 loci implicated in adult-onset ulcerative colitis, highlighting the close pathogenetic relationship between early- and adult-onset IBD.

Imielinski, Marcin; Baldassano, Robert N; Griffiths, Anne; Russell, Richard K; Annese, Vito; Dubinsky, Marla; Kugathasan, Subra; Bradfield, Jonathan P; Walters, Thomas D; Sleiman, Patrick; Kim, Cecilia E; Muise, Aleixo; Wang, Kai; Glessner, Joseph T; Saeed, Shehzad; Zhang, Haitao; Frackelton, Edward C; Hou, Cuiping; Flory, James H; Otieno, George; Chiavacci, Rosetta M; Grundmeier, Robert; Castro, Massimo; Latiano, Anna; Dallapiccola, Bruno; Stempak, Joanne; Abrams, Debra J; Taylor, Kent; McGovern, Dermot; Heyman, Melvin B; Ferry, George D; Kirschner, Barbara; Lee, Jessica; Essers, Jonah; Grand, Richard; Stephens, Michael; Levine, Arie; Piccoli, David; Van Limbergen, Johan; Cucchiara, Salvatore; Monos, Dimitri S; Guthery, Stephen L; Denson, Lee; Wilson, David C; Grant, Struan F A; Daly, Mark; Silverberg, Mark S; Satsangi, Jack; Hakonarson, Hakon

2012-01-01

142

Common variants at five new loci associated with early-onset inflammatory bowel disease.  

PubMed

The inflammatory bowel diseases (IBD) Crohn's disease and ulcerative colitis are common causes of morbidity in children and young adults in the western world. Here we report the results of a genome-wide association study in early-onset IBD involving 3,426 affected individuals and 11,963 genetically matched controls recruited through international collaborations in Europe and North America, thereby extending the results from a previous study of 1,011 individuals with early-onset IBD. We have identified five new regions associated with early-onset IBD susceptibility, including 16p11 near the cytokine gene IL27 (rs8049439, P = 2.41 x 10(-9)), 22q12 (rs2412973, P = 1.55 x 10(-9)), 10q22 (rs1250550, P = 5.63 x 10(-9)), 2q37 (rs4676410, P = 3.64 x 10(-8)) and 19q13.11 (rs10500264, P = 4.26 x 10(-10)). Our scan also detected associations at 23 of 32 loci previously implicated in adult-onset Crohn's disease and at 8 of 17 loci implicated in adult-onset ulcerative colitis, highlighting the close pathogenetic relationship between early- and adult-onset IBD. PMID:19915574

Imielinski, Marcin; Baldassano, Robert N; Griffiths, Anne; Russell, Richard K; Annese, Vito; Dubinsky, Marla; Kugathasan, Subra; Bradfield, Jonathan P; Walters, Thomas D; Sleiman, Patrick; Kim, Cecilia E; Muise, Aleixo; Wang, Kai; Glessner, Joseph T; Saeed, Shehzad; Zhang, Haitao; Frackelton, Edward C; Hou, Cuiping; Flory, James H; Otieno, George; Chiavacci, Rosetta M; Grundmeier, Robert; Castro, Massimo; Latiano, Anna; Dallapiccola, Bruno; Stempak, Joanne; Abrams, Debra J; Taylor, Kent; McGovern, Dermot; Silber, Gary; Wrobel, Iwona; Quiros, Antonio; Barrett, Jeffrey C; Hansoul, Sarah; Nicolae, Dan L; Cho, Judy H; Duerr, Richard H; Rioux, John D; Brant, Steven R; Silverberg, Mark S; Taylor, Kent D; Barmuda, M Michael; Bitton, Alain; Dassopoulos, Themistocles; Datta, Lisa Wu; Green, Todd; Griffiths, Anne M; Kistner, Emily O; Murtha, Michael T; Regueiro, Miguel D; Rotter, Jerome I; Schumm, L Philip; Steinhart, A Hillary; Targan, Stephen R; Xavier, Ramnik J; Libioulle, Cécile; Sandor, Cynthia; Lathrop, Mark; Belaiche, Jacques; Dewit, Olivier; Gut, Ivo; Heath, Simon; Laukens, Debby; Mni, Myriam; Rutgeerts, Paul; Van Gossum, André; Zelenika, Diana; Franchimont, Denis; Hugot, J P; de Vos, Martine; Vermeire, Severine; Louis, Edouard; Cardon, Lon R; Anderson, Carl A; Drummond, Hazel; Nimmo, Elaine; Ahmad, Tariq; Prescott, Natalie J; Onnie, Clive M; Fisher, Sheila A; Marchini, Jonathan; Ghori, Jilur; Bumpstead, Suzannah; Gwillam, Rhian; Tremelling, Mark; Delukas, Panos; Mansfield, John; Jewell, Derek; Satsangi, Jack; Mathew, Christopher G; Parkes, Miles; Georges, Michel; Daly, Mark J; Heyman, Melvin B; Ferry, George D; Kirschner, Barbara; Lee, Jessica; Essers, Jonah; Grand, Richard; Stephens, Michael; Levine, Arie; Piccoli, David; Van Limbergen, John; Cucchiara, Salvatore; Monos, Dimitri S; Guthery, Stephen L; Denson, Lee; Wilson, David C; Grant, Straun F A; Daly, Mark; Silverberg, Mark S; Satsangi, Jack; Hakonarson, Hakon

2009-11-15

143

Up-regulated osteogenic transcription factors during early response of human periodontal ligament stem cells to cyclic tensile strain  

PubMed Central

Introduction As one group of periodontal ligament (PDL) cells, human periodontal ligament stem cells (hPDLSCs) have been isolated and identified as mesenchymal adult stem cells (MSCs) since 2004. It has been well accepted that PDL sensitively mediates the transmission of stress stimuli to the alveolar bone for periodontal tissue remolding. Besides, the direction of MSCs differentiation has been verified regulated by mechanical signals. Therefore, we hypothesized that tensile strain might act on hPDLSCs differentiation, and the early response to mechanical stress should be investigated. Material and methods The hPDLSCs were cultured in vitro and isolated via a magnetic activated CD146 cell sorting system. After investigation of surface markers and other experiments for identification, hPDLSCs were subjected to cyclic tensile strain at 3,000 µstrain for 3 h, 6 h, 12 h, and 24 h, without addition of osteogenic supplements. In the control groups, the cells were cultured in similar conditions without mechanical stimulation. Then osteogenic related genes and proteins were analyzed by RT-PCR and western blot. Results Cyclic tensile strain at 3,000 µstrain of 6 h, 12 h, and 24 h durations significantly increased mRNA and protein expressions of Satb2, Runx2, and Osx, which were not affected in unloaded hPDLSCs. Conclusions We indicate that hPDLSCs might be sensitive to cyclic tensile strain. The significant increase of Runx2, Osx and Satb2 expressions may suggest an early response toward osteogenic orientation of hPDLSCs.

Tang, Na; Zhao, Zhihe; Yu, Qiuli; Li, Ji; Xu, Zhenrui; Li, Xiaoyu

2012-01-01

144

Mutations in MODY Genes Are not Common Cause of Early-Onset Type 2 Diabetes in Mexican Families  

Microsoft Academic Search

Context Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes mellitus characterized by autosomal dominant inheritance, early age of onset and a primary insulin secretion defect. Certain MODY gene sequence variants may be involved in polygenic forms of type 2 diabetes. Objetive We assessed the contribution of MODY genes to the etiology of type 2 early- onset

Aarón Domínguez-López; Ángel Miliar-García; Yayoi X Segura-Kato; Laura Riba; José Esparza-López; Salvador Ramírez-Jiménez; Maribel Rodríguez-Torres; Samuel Canizales-Quinteros; Siraam Cabrera-Vásquez; Verónica Fragoso-Ontiveros; Carlos A Aguilar-Salinas; Nelly Altamirano-Bustamante; Raúl Calzada-León; Carlos Robles-Valdés; Luz E Bravo-Ríos; Maria Teresa Tusié-Luna

2005-01-01

145

The role of temperament in the relationship between early onset of tobacco and cannabis use: The TRAILS study  

Microsoft Academic Search

BackgroundWhile temperamental characteristics have been related to the onset of cannabis use, it is not clear at what point(s) along the trajectory from early onset of tobacco use (EOT) to early onset of cannabis use (EOC) these characteristics exert their impact. This study examined if (1) temperamental characteristics predispose to EOT that on its turn predisposes to EOC, and (2)

Hanneke E. Creemers; Tellervo Korhonen; Jaakko Kaprio; Wilma A. M. Vollebergh; Johan Ormel; Frank C. Verhulst; Anja C. Huizink

2009-01-01

146

Familial Early-Onset Type 2 Diabetes in Chinese Patients Obesity and genetics have more significant roles than autoimmunity  

Microsoft Academic Search

OBJECTIVE — We examined the prevalence of different forms of diabetes in Hong Kong Chinese patients with familial early-onset type 2 diabetes and compared their clinical features with patients with familial late-onset type 2 diabetes. RESEARCH DESIGN AND METHODS — A total of 145 young patients with early- onset diabetes (age and age at diagnosis #40 years) and a family

MAGGIE C. Y. NG; SHAO-CHIN LEE; ANTHONY H. BARNETT; IAN R. MACKAY; JULIAN A. J. H. CRITCHLEY; CLIVE S. COCKRAM; JULIANA C. N. CHAN

147

Early-Onset Chronic Inflammatory Disease Associated with Maternal Microchimerism  

PubMed Central

Maternal microchimerism (mMc) refers to the presence of a small population of cells originating from the mother. Whether mMc leads to autoimmune responses in children remains controversial. We describe here an 11-year-old boy with persistent fever and elevated levels of C-reactive protein from infancy onward. During infancy, the patient presented with high fever, skin rashes, and hepatic dysfunction. Careful examination including a liver biopsy failed to reveal the cause. At 4 years old, petechiae developed associated with thrombocytopenia and positive anti-dsDNA autoantibodies. Steroid pulse therapy was effective, but the effect of low-dose prednisone was insufficient. At age 9, an extensive differential diagnosis was considered especially for infantile onset autoinflammatory disorders but failed to make a definitive diagnosis. On admission, the patient exhibited short stature, hepatosplenomegaly, generalized superficial lymphadenopathy, and rashes. Laboratory findings revealed anemia, elevated levels of inflammation markers, and hypergammaglobulinemia. Serum complement levels were normal. Serum levels of IL-6 and B-cell activating factor were elevated. Viral infections were not identified. Although HLA typing revealed no noninherited maternal antigens in lymphocytes, female cells were demonstrated in the patient's skin and lymph nodes, suggesting that maternal microchimerism might be involved in the pathogenesis of fever without source in infants.

Ishikawa, Tomoaki; Sakurai, Yoshihiko; Takeda, Tomohiro; Suzuki, Hiroshi

2012-01-01

148

Autosomal recessive early-onset parkinsonism with diurnal fluctuation: clinicopathologic characteristics and molecular genetic identification  

Microsoft Academic Search

Autosomal recessive early-onset parkinsonism with diurnal fluctuation (AR-EPDF, syn. autosomal recessive juvenile parkinsonism, PARK2) is one of the hereditary parkinsonian syndromes. We examined subjects consisting of 43 patients from 22 families with AR-EPDF. The clinical features were relatively homogeneous, including the average age at onset of 26.1 years, beginning with dystonic gait disturbance, diurnal fluctuation of the symptoms (sleep benefit)

Yasuhiro Yamamura; Nobutaka Hattori; Hiroto Matsumine; Shigeki Kuzuhara; Yoshikuni Mizuno

2000-01-01

149

Genome-wide association study of recurrent early-onset major depressive disorder  

Microsoft Academic Search

A genome-wide association study was carried out in 1020 case subjects with recurrent early-onset major depressive disorder (MDD) (onset before age 31) and 1636 control subjects screened to exclude lifetime MDD. Subjects were genotyped with the Affymetrix 6.0 platform. After extensive quality control procedures, 671 424 autosomal single nucleotide polymorphisms (SNPs) and 25 068 X chromosome SNPs with minor allele

J Shi; J B Potash; J A Knowles; M M Weissman; W Coryell; W A Scheftner; W B Lawson; J R DePaulo; P V Gejman; A R Sanders; J K Johnson; P Adams; S Chaudhury; D Jancic; O Evgrafov; A Zvinyatskovskiy; N Ertman; M Gladis; K Neimanas; M Goodell; N Hale; N Ney; R Verma; D Mirel; P Holmans; D F Levinson

2011-01-01

150

Molecular etiologies of mody and other early-onset forms of diabetes  

Microsoft Academic Search

Maturity-onset diabetes of the young (MODY) are monogenic forms of type 2 diabetes that are characterized by an early disease\\u000a onset, autosomal-dominant inheritance, and defects in insulin secretion. Genetic studies have identified mutations in at least\\u000a eight genes associated with different forms of MODY. The majority of the MODY subtypes are caused by mutations in transcription\\u000a factors that include hepatocyte

David Q. Shih; Markus Stoffel

2002-01-01

151

Comparison of Brain Structural Variables, Neuropsychological Factors, and Treatment Outcome in Early-Onset Versus Late-Onset Late-Life Depression.  

PubMed

OBJECTIVE: To compare differences in gray matter volumes, white matter and subcortical gray matter hyperintensities, neuropsychological factors, and treatment outcome between early- and late-onset late-life depressed (LLD) subjects. METHODS: We conducted a prospective, nonrandomized, controlled trial at the outpatient clinics at Washington University and Duke University on 126 subjects, aged 60 years or older, who met Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition criteria for major depression, scored 20 or more on the Montgomery-Asberg Depression Rating Scale (MADRS), and received neuropsychological testing and magnetic resonance imaging. Subjects were excluded for cognitive impairment or severe medical disorders. After 12 weeks of sertraline treatment, subjects' MADRS scores over time and neuropsychological factors were studied. RESULTS: Left anterior cingulate thickness was significantly smaller in the late-onset depressed group than in the early-onset LLD subjects. The late-onset group also had more hyperintensities than the early-onset LLD subjects. No differences were found in neuropsychological factor scores or treatment outcome between early-onset and late-onset LLD subjects. CONCLUSION: Age at onset of depressive symptoms in LLD subjects are associated with differences in cortical thickness and white matter and subcortical gray matter hyperintensities, but age at onset did not affect neuropsychological factors or treatment outcome. PMID:23768683

Disabato, Brianne M; Morris, Carrie; Hranilovich, Jennifer; D'Angelo, Gina M; Zhou, Gongfu; Wu, Ningying; Doraiswamy, P Murali; Sheline, Yvette I

2013-06-11

152

Early onset of puberty and early ovarian failure in CYP7B1 knockout mice.  

PubMed

CYP7B1 is the enzyme responsible for hydroxylation and termination of the estrogenic actions of the androgen metabolite, 5alpha-androstane-3beta, 17beta-diol (3betaAdiol). 3betaAdiol is estrogenic in ERalpha or ERbeta positive cells only if they do not express CYP7B1. In this study we show that female CYP7B1(-/-) mice experience early onset of growth of the uterus and mammary glands and commence estrus cycles 2 days earlier than their wild-type littermates. Adult mammary glands and uteri appear to be under continuous estrogenic stimulation. We conclude that, by cell-specific regulation of the estrogenicity of 3betaAdiol, CYP7B1 performs two major tasks: (i) it allows 3betaAdiol to have growth inhibitory effects through ERbeta and (ii) it permits estradiol-specific activation of estrogen receptors by protection of certain cells from the estrogenic effects of 3betaAdiol. When CYP7B1 is inactivated, 3betaAdiol activates estrogen receptors indiscriminately, and the overall effect is prolonged and inappropriate exposure to estrogen. PMID:15710898

Omoto, Yoko; Lathe, Richard; Warner, Margaret; Gustafsson, Jan-Ake

2005-02-14

153

Childhood sleep problems, early onset of substance use and behavioral problems in adolescence  

PubMed Central

Background Very few prospective studies examine the relationship between childhood sleep problems and subsequent substance use. In this study, we examined how sleep problems at ages 3–8 predicted onset of alcohol, cigarette, and marijuana use in adolescence. We also investigated the relationships between childhood sleep problems and adolescent internalizing and externalizing problems. Methods Study participants were 292 boys and 94 girls from a community sample of high-risk families and controls in an ongoing longitudinal study. Results Controlling for parental alcoholism, sleep problems at ages 3–8 predicted onset of alcohol, cigarette, and marijuana use among boys and onset of alcohol use among girls. Childhood sleep problems were related to maternal ratings of internalizing and externalizing problems during adolescence for both boys and girls. Adjusting for these problems did not weaken the effects of sleep problems on onset of substance use. Conclusions This is to our knowledge the first study that prospectively examines gender differences in the relationship between sleep problems and early onset of substance use. Childhood sleep problems predicted early onset of substance use for boys but not girls. If childhood sleep problems indeed increase the probability of substance use onset, greater attention by parents to sleep problems in children and adolescents would potentially have ameliorative long-term effects. Parents are encouraged to explore different ways to help their children sleep better, including obtaining information and suggestions from their primary care physicians.

Wong, Maria M.; Brower, Kirk J.; Zucker, Robert A.

2008-01-01

154

Established Genetic Risk Factors Do Not Distinguish Early and Later Onset Crohn's Disease  

PubMed Central

Early onset disease is frequently examined in genetic studies because it is presumed to contain a more severe subset of patients under a higher influence of genetic effects. In light of the dramatic success of Crohn’s disease (CD) gene discovery efforts, we aimed to characterize the contribution of established common risk variants to pediatric CD. Using 35 confirmed CD risk alleles, we genotyped 384 parent-child trios (mean age of onset 11.7 years) along with 321 healthy controls. We performed association tests on the independent pediatric cohort and compared results to those previously published(1). We also computed a weighted CD genetic risk score for each affected person. Six variants not previously validated in children (at 5q33, 1q24, 7p12, 12q12, 8q24 and 1q32) were significantly associated with pediatric CD (P<0.03). We detected no significant association between risk score and age at onset through age 30. This analysis illustrates that the genetic effect of established CD risk variants is similar in early and later onset CD. These results motivate joint analyses of genome-wide association data in early and late onset cohorts and suggest that, rather than established risk variants, independent variants or environmental exposures should be sought as modulators of age of onset.

Essers, Jonah B.; Lee, Jessica J.; Kugathasan, Subra; Stevens, Christine R.; Grand, Richard J.; Daly, Mark J.

2009-01-01

155

Development of a Model of Early-Onset IgA Nephropathy  

PubMed Central

ddY mice spontaneously develop IgA nephropathy (IgAN) with a variable age of disease onset. Establishing a model with early-onset IgAN could aid the investigation of mechanisms that underlie the pathogenesis of this disease. On the basis of histologic grading in serial biopsies, we previously classified ddY mice into early-onset, late-onset, and quiescent groups. Here, we selectively mated mice with the early-onset phenotype for >20 generations and established “grouped ddY” mice that develop IgAN within 8 weeks of age. Similar to human IgAN, the prognosis was worse for male mice than females. These mice homogeneously retained genotypes of four marker loci previously associated with the early-onset phenotype, confirming a close association of these loci with early-onset IgAN in ddY mice. Grouped ddY mice comprised two sublines, however, which had distinct genotypes at a susceptibility locus for high serum IgA levels, which maps within the Ig heavy-chain gene complex. The subline bearing the Igh-2a IgA allotype had a more rapid course of fatal disease and lower oligosaccharide content, suggesting that aberrant IgA glycosylation may promote the progression of murine IgAN. Taken together, these data indicate that grouped ddY mice may be a useful model for the identification of susceptibility genes and the underlying molecular mechanisms involved in the pathogenesis of human IgAN.

Okazaki, Keiko; Suzuki, Yusuke; Otsuji, Mareki; Suzuki, Hitoshi; Kihara, Masao; Kajiyama, Tadahiro; Hashimoto, Azusa; Nishimura, Hiroyuki; Brown, Rhubell; Hall, Stacy; Novak, Jan; Izui, Shozo; Hirose, Sachiko

2012-01-01

156

Early onset cannabis use and progression to other drug use in a sample of Dutch twins.  

PubMed

One possible explanation of the commonly reported associations between early onset cannabis use and elevated risks of other illicit drug use is that early onset cannabis use increases access and availability to other drugs. It was this argument that in part motivated policy changes in the Netherlands that led to the de facto legalization of cannabis there. This study examines, using a co-twin control design, whether previously observed associations between early onset cannabis use and elevated lifetime rates of other illicit drug use would also be observed in a sample of 219 same sex Dutch twin pairs discordant for cannabis use before age 18. After adjustment for covariates, rates of lifetime party drug use (OR=7.4, 95% CI=2.3-23.4), hard drug use (OR=16.5, 95% CI=2.4-111.3), but not regular cannabis use (OR=1.3, 95% CI=0.3-5.1) were significantly elevated in individuals who reported early onset cannabis use, relative to their co-twin who had not used cannabis by age 18. The elevated odds of subsequent illicit drug use in early cannabis users relative to their non early using co-twins suggests that this association could not be explained by common familial risk factors, either genetic or environmental, for which our co-twin methodology provided rigorous control. PMID:16402286

Lynskey, Michael T; Vink, Jacqueline M; Boomsma, Dorret I

2006-01-10

157

A Dutch family with benign hereditary chorea of early onset: differentiation from Huntington's disease.  

PubMed

A large Dutch family of 88 members, running through five generations, is described with benign hereditary chorea of early onset. The clinical presentation was heterogeneous. The chorea manifested in late infancy or childhood, interfered with writing, was non-disabling, stable or even improved in adulthood in most cases, but was slowly progressive with gait impairment in some. There was mild dysarthria and normal intelligence. EEG brain CT-scanning and MRI were normal. Huntington's disease was excluded by analysis of the I T 15 gene, which showed a normal number of the CAG trinucleotide repeats in two patients. It is concluded that benign hereditary chorea of early onset is an entity different from Huntington's disease and that in cases of early onset chorea the diagnostic accuracy is markedly improved by DNA testing. PMID:8836592

Hageman, G; Ippel, P F; van Hout, M S; Rozeboom, A R

1996-05-01

158

Approach to the Girl with Early Onset of Pubic Hair  

PubMed Central

Premature pubarche, or the development of pubic hair before the age of 8 in girls or 9 in boys, is most commonly caused by premature adrenarche. Adrenarche is the maturation of the adrenal zona reticularis in both boys and girls, resulting in the development of pubic hair, axillary hair, and adult apocrine body odor. Although originally thought to be a benign variant of normal development, premature adrenarche has been associated with insulin resistance and the later development of metabolic syndrome and polycystic ovary syndrome. Although further studies are needed to confirm these relationships, the case presented herein argues for periodic assessment of children at risk. Indeed, recognition of these associations may allow for early preventive measures.

Sopher, Aviva B.; Gerken, Adrienne T.

2011-01-01

159

Variability of Expert Opinion in Treatment of Early-onset Scoliosis  

Microsoft Academic Search

Background  In contrast with treatment recommendations for adolescent idiopathic scoliosis, there are no clear algorithms for treating\\u000a patients with early-onset scoliosis. There has been rapid expansion of treatment options for children with early-onset scoliosis,\\u000a including casting, growth rods, the vertical expandable prosthetic titanium rib, and anterior vertebral stapling.\\u000a \\u000a \\u000a \\u000a \\u000a Questions\\/purposes  Given the range of treatment options, we assessed variability in decision making regarding

Michael G. Vitale; Jaime A. Gomez; Hiroko Matsumoto MA; David P. Roye Jr

2011-01-01

160

Structure-Respiration Function Relationships Before and After Surgical Treatment of Early-onset Scoliosis  

Microsoft Academic Search

Background  Spine and chest wall deformities in children with early onset scoliosis (EOS) frequently impair respiratory function and postnatal\\u000a growth of the lung. While a relationship between deformity and such impairment has been reported in children with adolescent\\u000a idiopathic scoliosis it is not well understood in children with early-onset scoliosis (EOS).\\u000a \\u000a \\u000a \\u000a \\u000a Questions\\/purposes  We therefore describe (1) the preoperative relation between Cobb angle

Gregory J. Redding; Oscar H. Mayer

2011-01-01

161

Surgical treatment of early onset scoliosis in neurofibromatosis.  

PubMed

Case series report of twenty-three patients, aged between 4 and 11 years, were surgically treated at the Authors' Spine Surgery Division in the past 15 years. Mean follow-up is 5 years (range, 18 months to 15 years). Mean age at the time of surgical procedure was 9.1 years (range, 4 years to 11 years). Average scoliosis was 48° (range, 38° to 82°) and skeletal maturity according to Risser sign was 0 in all of the patients. Patients were divided into 2 Groups according to the surgical procedure adopted. Posterior only instrumentation was performed in 16 patients that presented with a thoracic kyphosis lower than 50° (Group A), in the remaining 7 patients showing thoracic kyphosis exceeding 50°, combined anterior and posterior instrumented arthrodesis was performed (Group B). One patient, belonging to Group A, was instrumented with growing rod without fusion. Average correction of scoliosis was 60%, overall complication rate 24% and major 7%. Crankshaft phenomenon was observed in 21% (Group A): in these cases, anterior arthrodesis was performed after a mean 15-month from first surgical procedure. Fusion failure was observed in 1 (Group B) patient who underwent revision of posterior instrumentation. Clinical and radiographic evaluation at F-up showed good outcome in terms of deformity progression and quality of life. Early and aggressive surgery is the most effective management for dystrophic curves in neurofibromatosis has been proven to be. Our experience confirms the need for spinal stabilization even in pediatric age in rapidly progressive spinal deformities. PMID:22744522

Greggi, Tiziana; Martikos, Konstantinos

2012-01-01

162

Childhood Epilepsy With Occipital Paroxysms: Difficulties in Distinct Segregation Into Either the Early-Onset or Late-Onset Epilepsy Subtypes  

Microsoft Academic Search

The Commission on Classification and Terminology of the International League Against Epilepsy Childhood rigidly segregated epilepsy with occipital paroxysms into 2 separate syndromes with different predominant seizure types: early-onset seizure susceptibility type consisting of prolonged infrequent, nocturnal autonomic seizures and accompanied by eye deviation and ictal vomiting and late onset with short diurnal frequent seizures and visual ictal manifestations along

Jacob Genizi; Nathanel Zelnik; Sarit Ravid; Eli Shahar

2007-01-01

163

Very early onset nonorganic failure to thrive in infants.  

PubMed

Nonorganic failure to thrive (NOFTT) occurs in absence of any gastrointestinal, endocrine, or other chronic diseases. It is usually associated with psychosocial deprivation, although behavior problems may also contribute to its occurrence in absence of maternal pathology. We report seven infants and children between the ages of 13 and 30 months at the time of presentation, who failed to consume adequate calories and suffered from delayed growth. All were born at term after normal pregnancies with birth weights and lengths between the 50th and 95th percentiles except in one. None had any history of perinatal problems. Decreased intake was encountered almost immediately after birth, with lack of interest in consuming adequate calories. The evaluations performed did not reveal any specific etiology for the decreased intake. None had any developmental delay nor were there any psychiatric conditions in mothers. Changes in formulas or psychologic intervention were unsuccessful in modifying feeding habits except in two infants. All were supplemented with enteral supplements (Pediasure-five, Ensure-one, and Osmolite-one). Three did not consume enough orally and needed nasogastric tube infusions with eventual placement of gastrostomy tubes in two, and the third one has continued with nasogastric infusions. A significant increase in caloric intake caused improvement in growth percentiles. Height and weight percentiles improved in all and crept into the normal curve in four and five patients, respectively. Head circumference of two stayed at < 5th percentile despite nutritional rehabilitation. Attempts at weaning off the supplements actually resulted in weight loss in all. Our data suggest that there is a critical need for early, aggressive nutritional intervention in such infants. PMID:7884621

Tolia, V

1995-01-01

164

Raynaud's syndrome: comparison of late and early onset forms using hand perfusion scintigraphy.  

PubMed

Primary Raynaud's disease is generally a disease of younger females; however, there are cases where symptoms present over the age of 40. These cases are described as late onset. In our current prospective study we compared the characteristics of early and late onset types of primary Raynaud's in 127 patients. In addition to the collection of medical records, we performed capillary-microscopy and hand perfusion scintigraphy using Tc-99 m DTPA to evaluate the microcirculation of each patient's fingers. Regarding the spectrum of the capillary-microscopic findings, we did not find any significant difference between the early and late onset forms. However, in hand perfusion examinations done using Tc-99 m DTPA, we measured a significantly lower finger/palm ratio (FPR) in the early onset group of patients. We also observed a correlation between the duration of the disease and the FPR, as well as between the age and FPR. Longer disease duration resulted in a significantly lower FPR. On the basis of our results, we believe that late onset Raynaud's should be treated as a separate entity. Due to its different characteristics found on examination and follow-up of our patients, functional hand perfusion examination should be recommended independently of the age-related characteristics of the disease. PMID:16604347

Csiki, Z; Galuska, L; Garai, I; Szabó, N; Varga, J; András, Cs; Zeher, M

2006-04-08

165

Deficient maturation of aspects of attention and executive functions in early onset schizophrenia  

Microsoft Academic Search

The few existing long-term, neuropsychological follow-up studies of early onset schizophrenia (EOS) patients have reported\\u000a relative stability in some cognitive functions but abnormal developmental trajectories in verbal memory, set shifting, aspects\\u000a of attention, and speed of information processing throughout late adolescence into early adulthood. The current 5-year follow-up\\u000a study compared the development of specific cognitive functions in EOS patients (N = 17)

Jens Richardt M. Jepsen; Birgitte Fagerlund; Anne Katrine Pagsberg; Anne Marie R. Christensen; Merete Nordentoft; Erik L. Mortensen

2010-01-01

166

Early-onset breast cancer in a woman with Graves' disease  

PubMed Central

The relationship between thyroid and breast diseases has been documented, but the clinical significance of Graves’ disease and breast cancer is unclear. We present a young patient with a history of Graves’ disease who developed a multicentric infiltrating ductal carcinoma of the breast several months after discontinuing her treatment with propylthiouracil. Early-onset breast cancer in women without a family history of early breast cancer may be related to hyperthyroidism. The relationship between thyroid hormone and estrogen is discussed.

Siegler, James E; Li, Xinying; Jones, Steven D; Kandil, Emad

2012-01-01

167

Allelic association at the D14S43 locus in early onset Alzheimer`s disease  

SciTech Connect

The D14S43 marker is closely linked to the major gene for early onset autosomal dominant Alzheimer`s disease on chromosome 14. Allelic frequencies at the D14S43 locus were compared in 113 familial and isolated cases of early onset Alzheimer`s disease (<60 years of age at onset) (EOAD) and 109 unaffected individuals of the same geographic origin. Allele 7 was significantly (P = 0.033) more frequent in type 1 EOAD patients (13.2%), defined by the presence of at least another first degree relative with EOAD, than in controls (4.1%). Since an autosomal dominant gene is probably responsible for type 1 patients, allelic association may reflect linkage disequilibrium at the D14S43 locus. This would mean that some patients share a common ancestral mutation. However, since multiple tests were carried out, this result must be interpreted with caution, and needs confirmation in an independent sample. 16 refs., 2 tabs.

Brice, A.; Tardieu, S.; Campion, D.; Martinez, M. [and others

1995-04-24

168

Prevalence of Anaerobic and Aerobic Bacteria in Early Onset Neonatal Sepsis  

Microsoft Academic Search

Background: To determine prospectively the prevalence of anaerobic and aerobic infection in early onset (during 72 hours of age) neonatal sepsis, in Tehran Vali-e-Asr Hospital. Methods: Among all the live birth, neonates suspecting of having septicemia were investigated for isolation of micro- organisms. Culture bottle containing enriched tryptic soy broth was used for standard blood culture system to detect aerobes

F Nili; E Amini; F Nayeri; M Aligholi; M Emaneini

169

Bone mineral density in partially recovered early onset anorexic patients - a follow-up investigation  

Microsoft Academic Search

BACKGROUND AND AIMS: There still is a lack of prospective studies on bone mineral development in patients with a history of early onset Anorexia nervosa (AN). Therefore we assessed associations between bone mass accrual and clinical outcomes in a former clinical sample. In addition to an expected influence of regular physical activity and hormone replacement therapy, we explored correlations with

Ulrike ME Schulze; Simone Schuler; Dieter Schlamp; Peter Schneider; Claudia Mehler-Wex

2010-01-01

170

Child and adolescent (early onset) schizophrenia: A review in light of DSM-III-R  

Microsoft Academic Search

Early onset schizophrenia (EOS) is defined as that beginning in childhood or adolescence (under 16 or 17). Studies of EOS are infrequent, and comparative adult figures not always available, but tentative conclusions may be drawn. EOS is more common in males; symptomatology is often undifferentiated; frequencies of homotypic family disorder, premorbid schizotypal personality, and neurodevelopmental abnormalities high; outcome poor but

John S. Werry

1992-01-01

171

Treating Children With Early-Onset Conduct Problems: A Comparison of Child and Parent Training Interventions  

Microsoft Academic Search

Families of 97 children with early-onset conduct problems, 4 to 8 years old, were randomly assigned to 1 of 4 conditions: a parent training treatment group (PT), a child training group (CT), a combined child and parent training group (CT + PT), or a waiting-list control group (CON). Posttreatment assessments indicated that all 3 treatment conditions had resulted in significant

Carolyn Webster-Stratton; Mary Hammond

1997-01-01

172

Cross-sex pattern of bone mineral density in early onset gender identity disorder  

Microsoft Academic Search

Hormonally controlled differences in bone mineral density (BMD) between males and females are well studied. The effects of cross-sex hormones on bone metabolism in patients with early onset gender identity disorder (EO-GID), however, are unclear. We examined BMD, total body fat (TBF) and total lean body mass (TLBM) in patients prior to initiation of sex hormone treatment and during treatment

I. R. Haraldsen; E. Haug; J. Falch; T. Egeland; S. Opjordsmoen

2007-01-01

173

Early Onset Ageing and Service Preparation in People with Intellectual Disabilities: Institutional Managers' Perspective  

ERIC Educational Resources Information Center

|Although longevity among older adults with intellectual disabilities is increasing, there is limited information on their premature aging related health characteristics and how it may change with increasing age. The present paper provides information of the institutional manager's perception on early onset aging and service preparation for this…

Lin, Jin-Ding; Wu, Chia-Ling; Lin, Pei-Ying; Lin, Lan-Ping; Chu, Cordia M.

2011-01-01

174

Memory in Early Onset Bipolar Disorder and Attention-Deficit/Hyperactivity Disorder: Similarities and Differences  

ERIC Educational Resources Information Center

|Differentiating between early-onset bipolar disorder (BD) and attention-deficit/hyperactivity disorder (ADHD) can be difficult. Memory problems are commonly reported in BD, and forgetfulness is among the diagnostic criteria for ADHD. We compared children and adolescents with BD (n = 23), ADHD combined type (ADHD-C; n = 26), BD + ADHD-C (n = 15),…

Udal, Anne H.; Oygarden, Bjorg; Egeland, Jens; Malt, Ulrik F.; Groholt, Berit

2012-01-01

175

Psychosocial Interventions for Children with Early-Onset Bipolar Spectrum Disorder  

ERIC Educational Resources Information Center

|Once considered virtually nonexistent, bipolar disorder in children has recently received a great deal of attention from mental health professionals and the general public. This paper provides a current review of literature pertaining to the psychosocial treatment of children with early-onset bipolar spectrum disorder (EOBPSD). Commencing with…

Lofthouse, Nicholas; Fristad, Mary A.

2004-01-01

176

A Dutch family with benign hereditary chorea of early onset: differentiation from Huntington's disease  

Microsoft Academic Search

A large Dutch family of 88 members, running through five generations, is described with benign hereditary chorea of early onset. The clinical presentation was heterogeneous. The chorea manifested in late infancy or childhood, interfered with writing, was non-disabling, stable or even improved in adulthood in most cases, but was slowly progressive with gait impairment in some. There was mild dysarthria

G. Hageman; P. F. Ippel; M. S. E. van Hout; A. R. Rozeboom

1996-01-01

177

Reconceptualizing Early and Late Onset: A Life Course Analysis of Older Heroin Users  

ERIC Educational Resources Information Center

|Purpose: Researchers' knowledge regarding older users of illicit drugs is limited despite the increasing numbers of users. In this article, we apply a life course perspective to gain a further understanding of older adult drug use, specifically contrasting early- and late-onset heroin users. Design and Methods: We collected qualitative data from…

Boeri, Miriam Williams; Sterk, Claire E.; Elifson, Kirk W.

2008-01-01

178

Accelerated in vitro fibril formation by a mutant ?-synuclein linked to early-onset Parkinson disease  

Microsoft Academic Search

Two mutations in the gene encoding ?-synuclein have been linked to early-onset Parkinson's disease (PD). ?-Synuclein is a component of Lewy bodies, the fibrous cytoplasmic inclusions characteristic of nigral dopaminergic neurons in the PD brain. This connection between genetics and pathology suggests that the ?-synuclein mutations may promote PD pathogenesis by accelerating Lewy body formation. To test this, we studied

Kelly A. Conway; James D. Harper; Peter T. Lansbury

1998-01-01

179

Two-Year Diagnostic Stability in Early-Onset First-Episode Psychosis  

ERIC Educational Resources Information Center

|Background: Only one study has used a prospective method to analyze the diagnostic stability of first psychotic episodes in children and adolescents. The Child and Adolescent First-Episode Psychosis Study (CAFEPS) is a 2-year, prospective longitudinal study of early-onset first episodes of psychosis (EO-FEP). Aim: To describe diagnostic stability…

Castro-Fornieles, Josefina; Baeza, Immaculada; de la Serna, Elena; Gonzalez-Pinto, Ana; Parellada, Mara; Graell, Montserrat; Moreno, Dolores; Otero, Soraya; Arango, Celso

2011-01-01

180

Impact of DNA Testing for Early-Onset Familial Alzheimer Disease and Frontotemporal Dementia  

Microsoft Academic Search

Background: DNA testing of persons at risk for heredi- tary, degenerative neurologic diseases is relatively new. Only anecdotal reports of such testing in familial Alz- heimer disease (FAD) exist, and little is know about the personal and social impact of such testing. Methods: In a descriptive, observational study, indi- viduals at 50% risk for autosomal dominant, early-onset FAD or frontotemporal

Ellen J. Steinbart; Corrine O. Smith; Parvoneh Poorkaj; Thomas D. Bird

2001-01-01

181

Early Onset of Platinum Hypersensitivity in a Dentist:A Case Report  

Microsoft Academic Search

The very early onset of platinum hypersensitivity reaction in a dentist treated with external beam radiation and weekly carboplatin for a locally advanced squamous cell carcinoma of the skin raises the provocative issue of whether occupational exposure to platinum may have contributed to this most unusual clinical event.

Maurie Markman; Daniel Lieber

2010-01-01

182

Neuropeptide Y Gene Polymorphisms Confer Risk of Early-Onset Atherosclerosis  

Microsoft Academic Search

Neuropeptide Y (NPY) is a strong candidate gene for coronary artery disease (CAD). We have previously identified genetic linkage to familial CAD in the genomic region of NPY. We performed follow-up genetic, biostatistical, and functional analysis of NPY in early-onset CAD. In familial CAD (GENECARD, N = 420 families), we found increased microsatellite linkage to chromosome 7p14 (OSA LOD =

Svati H. Shah; Neil J. Freedman; Lisheng Zhang; David R. Crosslin; David H. Stone; Carol Haynes; Jessica Johnson; Sarah Nelson; Liyong Wang; Jessica J. Connelly; Michael Muehlbauer; Geoffrey S. Ginsburg; David C. Crossman; Christopher J. H. Jones; Jeffery Vance; Michael H. Sketch; Christopher B. Granger; Christopher B. Newgard; Simon G. Gregory; Pascal J. Goldschmidt-Clermont; William E. Kraus; Elizabeth R. Hauser

2009-01-01

183

Reduced antioxidant defense in early onset first-episode psychosis: a case-control study  

Microsoft Academic Search

BACKGROUND: Our objective is to determine the activity of the antioxidant defense system at admission in patients with early onset first psychotic episodes compared with a control group. METHODS: Total antioxidant status (TAS) and lipid peroxidation (LOOH) were determined in plasma. Enzyme activities and total glutathione levels were determined in erythrocytes in 102 children and adolescents with a first psychotic

Juan Antonio Micó; Maria Olga Rojas-Corrales; Juan Gibert-Rahola; Mara Parellada; Dolores Moreno; David Fraguas; Montserrat Graell; Javier Gil; Jon Irazusta; Josefina Castro-Fornieles; Cesar Soutullo; Celso Arango; Soraya Otero; Ana Navarro; Inmaculada Baeza; Mónica Martínez-Cengotitabengoa; Ana González-Pinto

2011-01-01

184

Enhanced Visual Speech Perception in Individuals with Early-Onset Hearing Impairment  

ERIC Educational Resources Information Center

|Purpose: L. E. Bernstein, M. E. Demorest, and P. E. Tucker (2000) demonstrated enhanced speechreading accuracy in participants with early-onset hearing loss compared with hearing participants. Here, the authors test the generalization of Bernstein et al.'s (2000) result by testing 2 new large samples of participants. The authors also investigated…

Auer, Edward T., Jr.; Bernstein, Lynne E.

2007-01-01

185

Weight and length at birth and risk of early-onset prostate cancer (United States)  

Microsoft Academic Search

Objective: A case–control study was conducted to examine the association of weight and length at birth with early-onset prostate cancer. Methods: Cases of prostate cancer diagnosed between 1988 and 1995 (n = 192) were identified through the Minnesota Cancer Surveillance System. Two separate control groups were selected using driver's license (DL) and birth certificate (BC) listings. Results: Using the DL

Lori L. Boland; Pamela J. Mink; Sally A. Bushhouse; Aaron R. Folsom

2003-01-01

186

Maturation, Peer Context, and Indigenous Girls' Early-Onset Substance Use  

ERIC Educational Resources Information Center

|This article examines a biosocial model of the impact of puberty on indigenous girls' early-onset substance use by considering the potential mediating role of peer context (i.e., mixed-sex peer groups and substance use prototypes) on the puberty and substance use relationship. Data include responses from 360 girls of a common indigenous cultural…

Walls, Melissa L.; Whitbeck, Les B.

2011-01-01

187

The topography of grey matter involvement in early and late onset Alzheimer's disease  

Microsoft Academic Search

Clinical observations have suggested that the neuropsychological profile of early and late onset forms of Alzheimer's disease (EOAD and LOAD) differ in that neocortical functions are more affected in the former and learning in the latter, suggesting that they might be different diseases. The aim of this study is to assess the brain structural basis of these observations, and test

Giovanni B. Frisoni; Michela Pievani; Cristina Testa; Francesca Sabattoli; Lorena Bresciani; Matteo Bonetti; Alberto Beltramello; Kiralee M. Hayashi; Arthur W. Toga; Paul M. Thompson

2007-01-01

188

Preventing Early-onset Group B Streptococcal Sepsis: Efforts to Measure and Improve Compliance with Guidelines  

Microsoft Academic Search

Objectives: We describe strategies employed in achiev- ing a high level of compliance with Centers for Disease Control and Prevention guidelines for the prevention of early-onset Group B streptococcal neonatal sepsis. Methods: This is a retrospective review of all deliveries at or beyond 37 weeks gestation at Gundersen Lutheran Medical Center to determine 1) whether and when cultures were obtained

Kenneth W. Merkitch; Charles W. Schauberger; Becky A. Fruechte

189

Phoneme Awareness Is a Better Predictor of Early Reading Skill Than Onset-Rime Awareness  

Microsoft Academic Search

We present the results of a short-term longitudinal study. Children in the early stages of learning to read (5 and 6 year olds) were administered three different tasks (deletion, oddity, and detection) tapping awareness of four phonological units (initial phoneme, final phoneme, onset, and rime). Measures of phoneme awareness were the best concurrent and longitudinal predictors of reading skill with

Charles Hulme; Peter J. Hatcher; Kate Nation; Angela Brown; John Adams; George Stuart

2002-01-01

190

Peer and Teacher Effects on the Early Onset of Sexual Intercourse  

Microsoft Academic Search

Objectives. We examined the links between peer rejection and verbal abuse by a teacher during childhood with the early onset of sexual intercourse and the mediating role of delinquent behavior and low self-esteem in this context. Methods. We assessed 312 students (159 girls) in northwestern Quebec annu- ally from kindergarten through seventh grade. Peer identifications were used to assess peer

Mara Brendgen; Brigitte Wanner; Frank Vitaro

2007-01-01

191

Whole genome analysis in a consanguineous family with early onset Alzheimer's disease  

Microsoft Academic Search

Early-onset Alzheimer's disease (EOAD) is a clinically and genetically heterogeneous condition in which the typical features appear significantly earlier in life (before 65 years). Mutations in three genes (PSEN1, PSEN2, and APP) have been identified in autosomal dominant forms of EOAD. However, in about 50% of Mendelian cases and in most of the sporadic EOAD patients, no mutations have been

J. Clarimón; R. Djaldetti; A. Lleó; R. J. Guerreiro; J. L. Molinuevo; C. Paisán-Ruiz; T. Gómez-Isla; R. Blesa; A. Singleton; J. Hardy

2009-01-01

192

The Effects of Childhood ADHD Symptoms on Early-Onset Substance Use: A Swedish Twin Study  

ERIC Educational Resources Information Center

Research has documented that children and adolescents with attention-deficit/hyperactivity disorder (ADHD) are at increased risk of substance use problems. Few studies, however, have focused on early-onset substance use. This study therefore investigated how the two symptom dimensions of ADHD (hyperactivity/impulsivity and inattention) are…

Chang, Zheng; Lichtenstein, Paul; Larsson, Henrik

2012-01-01

193

'Early-onset schizophrenia' after teenage head injury. A case report with magnetic resonance imaging.  

PubMed

A 14-year-old youth sustained an injury to the left frontoparietal area, which was followed by evident change in personality and subsequently by an early-onset schizophrenia-like psychosis. Magnetic resonance imaging revealed ventricular dilatation, slightly more marked in the left hemisphere, and cortical atrophy. Some implications of this case for research on schizophrenia itself are discussed. PMID:3250679

O'Callaghan, E; Larkin, C; Redmond, O; Stack, J; Ennis, J T; Waddington, J L

1988-09-01

194

Use of the Complete Blood Cell Count in Early-Onset Neonatal Sepsis  

PubMed Central

Background Early-onset sepsis is an important cause of morbidity and mortality in neonates, and its diagnosis remains challenging. The complete blood cell count and differential have been previously evaluated as diagnostic tools for early-onset sepsis in small, single-center reports. We evaluated the diagnostic accuracy of the complete blood count and differential in early-onset sepsis in a large, multicenter population of neonates admitted to the neonatal intensive care unit. Methods Using a cohort of 166,092 neonates with suspected early-onset sepsis with cultures admitted to 293 neonatal intensive care units, we calculated odds ratios and receiver operating characteristic curves for complete blood cell count indices and prediction of a positive culture. We determined sensitivity, specificity, and likelihood ratios for various commonly used cut-off values from the complete blood cell count. Results Low white blood cell counts, low absolute neutrophil counts, and high immature-to-total neutrophil ratios were associated with increasing odds of infection (highest odds ratios: 5.38, 6.84, and 7.97, respectively). Specificity and negative predictive values were high (73.7–99.9% and >99.8%). However, sensitivities were low (0.3–54.5%) for all complete blood cell count indices analyzed. Conclusion Low white blood cell count, absolute neutrophil count, and high immature-to-total neutrophil ratio were associated with increasing odds of infection, but no complete blood cell count-derived index possesses the sensitivity to rule out reliably early-onset sepsis in neonates.

Hornik, Christoph P.; Benjamin, Daniel K.; Becker, Kristian C.; Benjamin, Daniel K.; Li, Jennifer; Clark, Reese H.; Cohen-Wolkowiez, Michael; Smith, P. Brian

2012-01-01

195

Differences between Early and Late-Onset Alzheimer's Disease in Neuropsychological Tests  

PubMed Central

Although patients with Alzheimer disease (AD) share clinical and histological features regardless of age of onset, the hypothesis that early onset AD constitutes a distinct subgroup prevails. Some authors suggest that early attention or language impairment constitute patterns of differentiation in terms of neuropsychological profile, between these groups. However, investigations are not consensual in terms of cognitive domains affected in each group. Aim: To investigate whether there is early neuropsychological difference between two types of AD using the conventional dividing line of 65?years. Methods: We evaluated the results obtained in the Mini-Mental State Examination (MMSE) and in a comprehensive neuropsychological battery – Battery of Lisbon for the Assessment of Dementia (BLAD), at a Dementia clinic in the University Hospital of Coimbra and a Memory Clinic. The study was developed in consecutive patients with a clinical probable diagnosis of mild to moderate AD, using standard criteria (DSMIV and NINCDS-ADRDA). Statistical analysis was performed using Qui-square and U-Mann–Whitney, for categorical and non-categorical variables. The degree of relation between variables, was measured using the coefficient of correlation rs de Spearman. Results: The total sample included 280 patients: 109 with early onset AD and 171 with a late-onset form. Groups were comparable in terms of gender, education or severity of disease, and MMSE. In BLAD, for univariate analysis the early onset group had lower scores in Naming (p?=?0.025), Right–Left Orientation (p?=?0.029) and Praxis (p?=?0.001), and better performances in Orientation (p?=?0.001) and Visual Memory (p?=?0.022). After application of Bonferroni correction for multiple comparisons only Praxis and Orientation could differentiate the two groups. No significant differences were found in other tests or functions. Discussion: The results are suggestive of dissociated profiles between early and late-onset AD. Younger patients have a major impairment in Praxis and a tendency for a great impairment in neocortical temporal functions. AD patients with late-onset forms had a tendency for worse performances in Visual Memory and Orientation, suggesting a more localized disease to the limbic structures.

Sa, Francisca; Pinto, Paula; Cunha, Catarina; Lemos, Raquel; Letra, Liliana; Simoes, Mario; Santana, Isabel

2012-01-01

196

Characteristics of familial aggregation in early-onset Alzheimer`s disease: Evidence of subgroups  

SciTech Connect

Characteristics of familial aggregation of Alzheimer`s Disease were studied in 92 families ascertained through a clinically diagnosed proband with an onset below age 60 years. In each family data were systematically collected on the sibships of the proband, of his father, and of his mother. A total of 926 relatives were included and 81% of the living relatives (i.e., 251 individuals) were directly examined. The estimated cumulative risk among first degree relatives was equal to 35% by age 89 years (95% confidence interval 22 to 47%). This result does not support the hypothesis that an autosomal dominant gene, fully penetrant by age 90 years, is segregating within all these pedigrees. Despite the fact that all probands were selected for an onset before age 60 years it was shown that two types of families could be delineated with respect to age at onset among affected relatives: all secondary cases with an onset below age 60 years were contributed by a particular group of families (type 1 families), whereas all secondary cases with an onset after age 60 years were contributed by another group of families (type 2 families). Although genetic interpretation of these findings is not straightforward, they support the hypothesis of etiologic heterogeneity in the determinism of early-onset Alzheimer`s disease. 58 refs., 5 figs., 2 tabs.

Campion, D. [INSERM, Paris (France); Martinez, M.; Babron, M.C. [and others

1995-06-19

197

Clinical features of early onset, familial Alzheimer`s disease linked to chromosome 14  

SciTech Connect

Early onset familial Alzheimer`s disease (AD) has an autosomal dominant mode of inheritance. Two genes are responsible for the majority of cases of this subtype of AD. Mutations in the {beta}-amyloid precursor protein ({beta}APP) gene on chromosome 21 have been shown to completely cosegregate with the disease. We and others have previously described the clinical features of families with {beta}APP mutations at the codon 717 locus in an attempt to define the phenotype associated with a valine to isoleucine (Val {r_arrow} Ile) or a valine to glycine (Val {r_arrow} Gly) change. More recently, a second locus for very early onset disease has been localized to chromosome 14. The results of linkage studies in some families suggesting linkage to both chromosomes have been explained by the suggestion of a second (centromeric) locus on chromosome 21. Here we report the clinical features and genetic analysis of a British pedigree (F74) with early onset AD in which neither the {beta}APP locus nor any other chromosome 21 locus segregates with the disease, but in which good evidence is seen for linkage on the long arm of chromosome 14. In particular we report marker data suggesting that the chromosome 14 disease locus is close to D14S43 and D14S77. Given the likelihood that F74 represents a chromosome 14 linked family, we describe the clinical features and make a limited clinical comparison with the {beta}APP717 Val {r_arrow} Ile and {beta}APP717 Val {r_arrow} Gly encoded families that have been previously described. We conclude that although several previously reported clinical features occur to excess in early onset familial AD, no single clinical feature demarcates either the chromosome 14 or {beta}APP codon 717 mutated families except mean age of onset. 52 refs., 2 figs., 5 tabs.

Mullan, M.; Bennett, C.; Figueredo, C.; Crawford, F. [Univ. of South Florida, Tampa, FL (United States)] [and others

1995-02-27

198

The psychopathological and psychosocial outcome of early-onset schizophrenia: Preliminary data of a 13-year follow-up  

Microsoft Academic Search

BACKGROUND: Relatively little is known about the long-term psychopathological and psychosocial outcome of early-onset schizophrenia. The existing literature describes more severe courses of illness in these patients compared with adult-onset schizophrenia. This article reports preliminary data of a study exploring the outcome of early-onset schizophrenia 13.4 years (mean) after first admission. Predictors for interindividual outcomes were investigated. METHODS: We retrospectively

Andreas Reichert; Susanne Kreiker; Claudia Mehler-Wex; Andreas Warnke

2008-01-01

199

Early onset otitis media: risk factors and effects on the outcome of chronic suppurative otitis media.  

PubMed

The onset of early otitis media (EOM), in the first few months of life has been reported to predict later chronic otitis media (CSOM), although the prevalence rates are increasing little is known about specific risk factors. In this survey we examined the hypothesis that higher risk factors is associated with the development of OM within 1 year compared to later onset and early onset otitis media (OM) has potential for negative outcome of CSOM. This is a survey of the age at onset of otorrhoea and associated risk factors in children with CSOM, in five sites spread in two sub-urban cities in two states in Nigeria. Questionnaires were administered on the informants followed by examination of the children. EOM was seen in 136/189 (70%) with CSOM, the age range was 1-150 months, mean of 59.25 (SD = 44.55). Of the 85 CSOM subjects with hearing loss, EOM accounted for 49 (57.7%) while 36 (42.4%) was later onset, On multivariate analysis (OR = 0.276, CI = 0.133-0.572, P = 0.001) revealing EOM was significant in the development of hearing loss however there was no correlation with the frequency of attack of otorrhoea (OR = 1.025, CI = 0.88-1.19, P = 0.75). Low socioeconomic status seen in 110/136 EOM (P = 0.000), allergy (P = 0.030) and number of people >10 in household (OR = 4.13, CI = 1.81-9.39, P = 0.001) constituted the significant risk for EOM compared to later onset. Bottlefeeding, adenoiditis/adenoid hypertrophy, indoor cooking and upper respiratory infection were not found to have statistical significance in early onset OM compared to later onset OM. This study found correlation between EOM and hearing loss and identified allergy, low social status and chronic exposure to overcrowding through increased number of children in the household significant risk factors for future research focus. This may help in controlling the prevalence of hearing loss accompanying CSOM. PMID:18046567

Lasisi, Akeem O; Olayemi, Oladapo; Irabor, Achiaka E

2007-11-29

200

Mapping Callosal Morphology in Early- and Late-Onset Elderly Depression: An Index of Distinct Changes in Cortical Connectivity  

PubMed Central

There is some evidence of corpus callosum abnormalities in elderly depression, but it is not known whether these deficits are region-specific or differ based on age at onset of depression. Twenty-four patients with early-onset depression (mean age=68.00, SD±5.83), 22 patients with late-onset depression (mean age=74.50, SD±8.09) and 34 elderly control subjects (mean age=72.38; SD±6.93) were studied. Using 3D MRI data, novel mesh-based geometrical modeling methods were applied to compare the midsagittal thickness of the corpus callosum at high spatial resolution between groups. Neuropsychological correlates of midsagittal callosal area differences were additionally investigated in a subsample of subjects. Depressed patients exhibited significant callosal thinning in the genu and splenium compared to controls. Significant callosal thinning was restricted to the genu in early-onset patients, but patients with late-onset depression exhibited significant callosal thinning in both the genu and splenium relative to controls. The splenium of the corpus callosum was also significantly thinner in subjects with late- vs early-onset depression. Genu and splenium midsagittal areas significantly correlated with memory and attention functioning among late-onset depressed patients, but not early-onset depressed patients or controls. Circumscribed structural alterations in callosal morphology may distinguish late- from early-onset depression in the elderly. These findings suggest distinct abnormalities of cortical connectivity in late- and early-onset elderly depression with possible influence on the course of illness. Patients with a late onset of depression may be at higher risk of illness progression and eventually dementia conversion than early-onset depression, with potentially important implications for research and therapy.

Ballmaier, Martina; Kumar, Anand; Elderkin-Thompson, Virginia; Narr, Katherine L; Luders, Eileen; Thompson, Paul M; Hojatkashani, Cornelius; Pham, Daniel; Heinz, Andreas; Toga, Arthur W

2009-01-01

201

Cognitive Efficacy of Quetiapine and Olanzapine in Early-Onset First-Episode Psychosis  

PubMed Central

The primary purpose of this study was to compare changes in cognition in early-onset psychosis after 6-months treatment with quetiapine or olanzapine. This is a randomized, single-blind, 6-month study in 50 adolescents with a diagnosis of early-onset psychosis. Patients were randomized to quetiapine (n?=?24) or olanzapine (n?=?26). A thorough neuropsychological battery was administered at baseline and after 6-month treatment. Out of the total sample included in the study, 32 patients completed at least 6-months treatment with the assigned medication (quetiapine, n?=?16; olanzapine, n?=?16). No changes were observed in cognitive performance after 6-month treatment with quetiapine or olanzapine. Although some trends toward cognitive improvement were observed for the olanzapine group after 6-month treatment, neither group showed statistically significant gains. Furthermore, there was no evidence of any differential efficacy of olanzapine or quetiapine on cognitive improvement in this sample of adolescents with psychosis.

Zabala, Arantzazu; Bombin, Igor; Parellada, Mara; Moreno, Dolores; Ruiz-Sancho, Ana; Arango, Celso

2011-01-01

202

Maturation, Peer Context, and Indigenous Girls' Early-Onset Substance Use  

PubMed Central

This paper examines a biosocial model of the impact of puberty on Indigenous girls' early-onset substance use by considering the potential mediating role of peer context (i.e. mixed-sex peer groups and substance use prototypes) on the puberty and substance use relationship. Data include responses from 360 girls of a common Indigenous cultural group residing on reservations/reserves in the upper Midwest and Canada. Results of structural equation modeling revealed that the statistically significant relationship between girls' pubertal development and early-onset substance use was mediated by both mixed-sex/romantic peer groups and favorable social definitions of substance use. Implications for substance use prevention work include addressing the multiple and overlapping effects of peer influence from culturally-relevant perspectives.

Walls, Melissa L.; Whitbeck, Les B.

2011-01-01

203

Early onset pneumonia following pulmonary contusion: the case of Stonewall Jackson.  

PubMed

Confederate Lieutenant General Thomas J. "Stonewall" Jackson was wounded by his own men at the Battle of Chancellorsville during the American Civil War. While being removed from the field, Jackson fell from the litter and struck the right side of his chest on a large stone or stump. Four days following the amputation of his left arm, Jackson developed pneumonia in his right lung. His treating physicians believed the infection developed secondary to a pulmonary contusion that occurred when he fell from the litter. Pulmonary contusions are an independent risk factor in the development of post-traumatic pneumonia and an infection that occurs within 72 to 96 hours of injury is termed an early onset pneumonia. The nature and timing of Stonewall Jackson's illness following his wounding is consistent with the modem diagnosis of early onset pneumonia following chest trauma. PMID:22479920

Lively, Mathew W

2012-03-01

204

Support Vector Machine Classifier for Estrogen Receptor Positive and Negative Early-Onset Breast Cancer  

PubMed Central

Two major breast cancer sub-types are defined by the expression of estrogen receptors on tumour cells. Cancers with large numbers of receptors are termed estrogen receptor positive and those with few are estrogen receptor negative. Using genome-wide single nucleotide polymorphism genotype data for a sample of early-onset breast cancer patients we developed a Support Vector Machine (SVM) classifier from 200 germline variants associated with estrogen receptor status (p<0.0005). Using a linear kernel Support Vector Machine, we achieved classification accuracy exceeding 93%. The model indicates that polygenic variation in more than 100 genes is likely to underlie the estrogen receptor phenotype in early-onset breast cancer. Functional classification of the genes involved identifies enrichment of functions linked to the immune system, which is consistent with the current understanding of the biological role of estrogen receptors in breast cancer.

Upstill-Goddard, Rosanna; Eccles, Diana; Ennis, Sarah; Rafiq, Sajjad; Tapper, William; Fliege, Joerg; Collins, Andrew

2013-01-01

205

Psychosis in children and youth: focus on early-onset schizophrenia.  

PubMed

On the basis of strong research evidence (1)(3) very early onset (VEOS) and early onset schizophrenia (EOS) carry significant morbidity and mortality risks for children and adolescents. On the basis of strong research evidence, the pathogenesis of EOS is linked to a dysregulation of dopamine and morphologic brain changes. (6)(7) On the basis of some research evidence and consensus, development of schizophrenia is the result of the interplay between genetic and environmental risk factors. (4) On the basis of strong research evidence, antipsychotic medications are the cornerstones of treatment for EOS. (11)(12)(13) On the basis of some research evidence and consensus, (13) treatment for schizophrenia should be timely, multimodal and multidisciplinary, including both pharmacologic and nonpharmacologic modalities tooptimize recovery. PMID:23818084

Abidi, Sabina

2013-07-01

206

Early-onset neonatal sepsis: rate and organism pattern between 2003 and 2008  

Microsoft Academic Search

Objective:Organisms causing early-onset neonatal sepsis (EONS) have consistently changed over time. The distribution of organisms in EONS helps to influence the appropriate type of antibiotic prophylaxis strategy during labor and the antibiotics used in neonates with suspected sepsis.Study Design:To compare the organisms distribution for EONS between 2003 and 2008 for infants admitted to neonatal intensive care units (NICUs) in Canada.

M Sgro; P S Shah; D Campbell; A Tenuta; S Shivananda; S K Lee

2011-01-01

207

Inflammatory Mediators in Umbilical Plasma from Neonates Who Develop Early-Onset Sepsis  

Microsoft Academic Search

Objectives: To study whether early-onset neonatal sepsis is associated with a prenatal immune response with elevated umbilical plasma levels of inflammatory mediators, and to study whether mediator levels may be helpful in identifying infected neonates. Setting: Nested case-control study. Methods: Cord blood was sampled from 7,073 consecutively delivered neonates. After review of the medical records, neonates suspected to suffer from

Henrik Døllner; Lars Vatten; Ingjerd Linnebo; Gro Flatabø Zanussi; Åge Lærdal; Rigmor Austgulen

2001-01-01

208

Early-Onset Neonatal Sepsis in the Era of Group B Streptococcal Prevention  

Microsoft Academic Search

Objective. To determine whether intra- partum antibiotic prophylaxis for neonatal group B strep- tococcal (GBS) disease has resulted in an increased rate of non-GBS or antibiotic-resistant early-onset invasive neonatal disease. Methods. Maternal and infant chart review of all in- fants with bacteria other than GBS isolated from blood or spinal fluid in 1996 through 1999 in 19 hospitals (repre- senting

Robert S. Baltimore; Sharon M. Huie; James I. Meek; Anne Schuchat; Katherine L. O'Brien

209

Identification of independent APP locus duplication in Japanese patients with early-onset Alzheimer disease  

Microsoft Academic Search

Background:The occurrence of duplications of the amyloid precursor protein gene (APP) has been described in European families with early-onset familial Alzheimer disease (EO-FAD) and cerebral amyloid angiopathy. However, the contribution of APP duplication to the development of AD in other ethnic populations remains undetermined.Methods:The occurrence of APP duplication in probands from 25 families with FAD and 11 sporadic EO-AD cases

K Kasuga; T Shimohata; A Nishimura; A Shiga; T Mizuguchi; J Tokunaga; T Ohno; A Miyashita; R Kuwano; N Matsumoto; O Onodera; M Nishizawa; T Ikeuchi

2009-01-01

210

The TOR1A (DYT1) Gene Family and Its Role in Early Onset Torsion Dystonia  

Microsoft Academic Search

Most cases of early onset torsion dystonia are caused by a 3-bp deletion (GAG) in the coding region of the TOR1A gene (alias DYT1, DQ2), resulting in loss of a glutamic acid in the carboxy terminal of the encoded protein, torsin A. TOR1A and its homologue TOR1B (alias DQ1) are located adjacent to each other on human chromosome 9q34. Both

Laurie J. Ozelius; Curtis E. Page; Christine Klein; Jeffrey W. Hewett; Mari Mineta; Joanne Leung; Christo Shalish; Susan B. Bressman; Deborah de Leon; Mitchell F. Brin; Stanley Fahn; David P. Corey; Xandra O. Breakefield

1999-01-01

211

DYT1 mutations in early onset primary torsion dystonia and Parkinson disease patients in Chinese populations  

Microsoft Academic Search

Torsion dystonia is an autosomal dominant movement disorder characterized by involuntary, repetitive muscle contractions and twisted postures. The most severe early onset form of dystonia has been linked to mutations in the human DYT1 (TOR1A) gene encoding a protein termed torsinA. Moreover, dystonia and Parkinson disease share the common feature of reduced dopamine neurotransmission in the striatum, so we assumed

Jing-Fang Yang; Tao Wu; Jian-Yu Li; Yong-Jie Li; Yan-Li Zhang; Piu Chan

2009-01-01

212

Early onset otitis media: risk factors and effects on the outcome of chronic suppurative otitis media  

Microsoft Academic Search

The onset of early otitis media (EOM), in the first few months of life has been reported to predict later chronic otitis media\\u000a (CSOM), although the prevalence rates are increasing little is known about specific risk factors. In this survey we examined\\u000a the hypothesis that higher risk factors is associated with the development of OM within 1 year compared to later

Akeem O. Lasisi; Oladapo Olayemi; Achiaka E. Irabor

2008-01-01

213

Adenylosuccinase deficiency: an unusual cause of early-onset epilepsy associated with acquired microcephaly.  

PubMed

Adenylosuccinase deficiency, an autosomal recessive inborn error of purine synthesis, was first described in 1984 by Jaeken and Van den Berghe (reviewed in J Inher Metab Dis 20;1997:193). The cardinal features are variable psychomotor delay often accompanied by epilepsy and autistic features. Diagnosis is made by detection of abnormal purine metabolites in body fluids. We report a girl who presented with early onset epilepsy, associated with acquired microcephaly and severe psychomotor retardation, as the most prominent symptoms. PMID:11042421

Nassogne, M; Henrot, B; Aubert, G; Bonnier, C; Marie, S; Saint-Martin, C; Van den Berghe, G; Sébire, G; Vincent, M

2000-09-01

214

An Unusual Case of Early Onset Persistent Escherichia coli Septicemia Associated with Endocarditis  

PubMed Central

Escherichia coli infection is very common cause of early onset septicemia especially in very low-birth-weight newborns, but E. coli endocarditis has not been described in newborns. E. coli endocarditis, even in the adult population, is a rare and not well-characterized disease and is associated with high mortality. We report a very unusual presentation of persistent E. coli infection associated with endocarditis.

Gupta, Sachin K.; Nanda, Vishakha; Malviya, Prashant; Jacobs, Norman; Naheed, Z.; Joseph, Tessy

2013-01-01

215

Clinical Significance of Early-Onset Hyperuricemia in Renal Transplant Recipients  

Microsoft Academic Search

Background\\/Aims: It is undetermined whether the effect of uric acid (UA) on graft outcome is independent of graft dysfunction. This study was designed to explore whether early-onset hyperuricemia has clinical significance regardless of graft function. Methods: This study was conducted based on a retrospective chart review. We calculated time-averaged UA and estimated glomerular filtration rate from the values at 3,

Byung Ha Chung; Seok Hui Kang; Hyeon Seok Hwang; Bum Soon Choi; Cheol Whee Park; Yong-Soo Kim; Ji-Il Kim; In Sung Moon; Chul Woo Yang

2011-01-01

216

Child, Parent, and Peer Predictors of Early-Onset Substance Use: A Multisite Longitudinal Study  

Microsoft Academic Search

The purpose of this study was to identify kindergarten-age predictors of early-onset substance use from demographic, environmental, parenting, child psychological, behavioral, and social functioning domains. Data from a longitudinal study of 295 children were gathered using multiple-assessment methods and multiple informants in kindergarten and 1st grade. Annual assessments at ages 10, 11, and 12 reflected that 21% of children reported

Julie B. Kaplow; Patrick J. Curran; Kenneth A. Dodge

2002-01-01

217

Does Diagnostic Classification of Early-Onset Psychosis Change over Follow-Up?  

ERIC Educational Resources Information Center

Objective: To examine the diagnostic stability and the functional outcome of patients with early-onset psychosis (EOP) over a 2-year follow-up period. Methods: A total of 24 patients (18 males (75%) and 6 females (25%), mean age [plus or minus] SD: 15.7 [plus or minus] 1.6 years) with a first episode of EOP formed the sample. Psychotic symptoms…

Fraguas, David; de Castro, Maria J.; Medina, Oscar; Parellada, Mara; Moreno, Dolores; Graell, Montserrat; Merchan-Naranjo, Jessica; Arango, Celso

2008-01-01

218

Neutrophil CD11b expression as a diagnostic marker for early-onset neonatal infection  

Microsoft Academic Search

Objectives: To determine whether neutrophil surface expression of CD11b predicts early-onset infection or suspected infection in at-risk infants. Study design: CD11b expression on peripheral blood neutrophils was determined by flow cytometry of whole blood samples. Blood (0.1 ml) was obtained from a convenience sample of at-risk infants admitted to the neonatal intensive care unit, stained with antibodies detecting CD11b and

Erica Weirich; Ronald L. Rabin; Yvonne Maldonado; William Benitz; Siv Modler; Leonard A. Herzenberg; Leonore A. Herzenberg

1998-01-01

219

A case of fetal leukemia with intracranial hemorrhage and early-onset jaundice  

Microsoft Academic Search

We report a case of a neonate who was diagnosed as having congenital leukemia after presenting with an intracranial hemorrhage.\\u000a The chief symptom was early-onset jaundice due to the hemorrhage. The intracranial hemorrhage and post-hemorrhage hydrocephalus\\u000a advanced. In addition, the leukemia worsened leading to death at 14 days old. The possibility of leukemia, although rare,\\u000a should be considered as a cause

Michiru Ito; Shigeru Nishimaki; Yusuke Nakano; Fumiko Tanaka; Hiroaki Goto; Shumpei Yokota

2009-01-01

220

Different TMS patterns of intracortical inhibition in early onset Alzheimer dementia and frontotemporal dementia  

Microsoft Academic Search

Objective: To investigate putative changes in cortical excitability of patients affected by early-onset mild dementia by means of transcranial magnetic stimulation (TMS) and to verify whether a peculiar neurophysiological profile may contribute to characterise Alzheimer's disease (AD) vs frontotemporal dementia (FTD).Methods: Motor threshold and intracortical inhibition (ICI) and facilitation (ICF) after paired-pulse TMS (inter-stimulus intervals from 1 to 20 ms)

M. Pierantozzi; M. Panella; M. G. Palmieri; G. Koch; A. Giordano; M. G. Marciani; G. Bernardi; P. Stanzione; A. Stefani

2004-01-01

221

Regional cerebral blood flow changes in early-onset anorexia nervosa before and after weight gain  

Microsoft Academic Search

To investigate the changes of regional cerebral blood flow (rCBF) in early-onset anorexia nervosa (AN) before and after weight gain, we examined resting rCBF using single photon emission computed tomography (SPECT) with [123I]iodoamphetamine (123I-IMP). Ten female children with AN (mean age 13.2years old) participated in this study. SPECT examinations were performed in all patients twice at the beginning of treatment

Hiroko Komatsu; Shinichiro Nagamitsu; Shuichi Ozono; Yushiro Yamashita; Masatoshi Ishibashi; Toyojiro Matsuishi

2010-01-01

222

Quality of life and depression in carers of patients with early onset dementia  

Microsoft Academic Search

Objective: To investigate the quality of life (QoL) and depression and its correlates in carers living with early onset dementia (EOD) patients.Method: The subjects were 49 carers, either married to or cohabiting with EOD patients, 38 with Alzheimer's disease and 11 with other types of dementia. The Quality of Life – Alzheimer Disease scale (QoL-AD) and Geriatric Depression Scale –

Tor Atle Rosness; Marit Mjørud; Knut Engedal

2011-01-01

223

Web Survey of Sleep Problems Associated with Early-onset Bipolar Spectrum Disorders  

Microsoft Academic Search

Objective As research on sleep difficulties associated with Early-Onset Bipolar Spectrum Disorders (EBSD) is limited, a web-based survey was developed to further explore these problems. Methods 494 parents of 4-to-12 year-olds, identified by parents as being diagnosed with EBSD, completed a web survey about past and current EBSD-related sleep problems. The survey included Children's Sleep Habits Questionnaire (CSHQ) items and

Nicholas Lofthouse; Mary Fristad; Mark Splaingard; Kelly Kelleher; John Hayes; Susan Resko

2007-01-01

224

Assessment of Intrapartum Antibiotic Prophylaxis for the Prevention of Early-onset Group B Streptococcal Disease  

PubMed Central

Background Most early-onset group B streptococcal (GBS) disease in recent years has occurred in newborns of prenatally GBS–negative mothers who missed intrapartum antibiotic prophylaxis (IAP). We aimed to assess the accuracy of prenatal culture in predicting GBS carriage during labor, the IAP use and occurrence of early-onset GBS disease. Methods We obtained vaginal-rectal swabs at labor for GBS culture from 5497 women of ?32 weeks gestation and surface cultures at birth from newborns during 2/5/08–2/4/09 at three hospitals in Houston Texas and Oakland California. Prenatal cultures were performed by health care provider during routine care, and culture results obtained from medical records. The accuracy of prenatal culture in predicting intrapartum GBS carriage was assessed by positive (PPV) and negative (NPV) predictive values. Mother-to-newborn transmission of GBS was assessed. Newborns were monitored for early-onset GBS disease. Results GBS carriage was 24.5% by prenatal and 18.8% by labor cultures. Comparing prenatal with labor GBS cultures of 4696 women, the PPV was 50.5% and NPV 91.7%. IAP, administered to 93.3% of prenatally GBS-positive women, was 83.7% effective in preventing newborn’s GBS colonization. Mother-to-newborn transmission of GBS occurred in 2.6% of elective Cesarean deliveries. Two newborns developed early-onset GBS disease (0.36/1000 births): one’s prenatal GBS culture was negative, the other’s unknown. Conclusions IAP was effective in interrupting mother-to-newborn transmission of GBS. However, ~10% of prenatally GBS-negative women were positive during labor and missed IAP while ~50% of prenatally GBS-positive women were negative during labor and received IAP. These findings emphasize the need for rapid diagnostics during labor.

LIN, FENG-YING C.; WEISMAN, LEONARD E.; AZIMI, PARVIN; YOUNG, AMY E.; CHANG, KATHLEEN; CIELO, MIKHAELA; MOYER, PATRICIA; TROENDLE, JAMES F.; SCHNEERSON, RACHEL; ROBBINS, JOHN B.

2011-01-01

225

Cockayne syndrome: Magnetic resonance images of the brain in a severe form with early onset  

Microsoft Academic Search

Summary A 2-year-old boy with an early onset and severe form of Cockayne's syndrome (CS) showed differences from the common CS form, which made the clinical diagnosis difficult. However, the cellular characteristics of CS, that the patient's skin fibroblasts exhibited the hypersensitivity to the lethal effect of 254 nm ultraviolet light (UV) and a defective recovery of post-UV DNA synthesis,

H. Nishio; S. Kodama; T. Matsuo; M. Ichihashi; H. Ito; Y. Fujiwara

1988-01-01

226

Indoor tanning and risk of early-onset basal cell carcinoma  

PubMed Central

Background Despite a rise in incidence of basal cell carcinoma (BCC) among young people and the ubiquity of indoor tanning in this population, few epidemiologic studies have investigated this exposure-disease relationship. Objective Evaluate the association between indoor tanning and early-onset BCC. Methods BCC cases (n=376) and controls with minor benign skin conditions (n=390) under age 40 were identified through Yale Dermatopathology. Participants provided information on ever indoor tanning, age of initiation, frequency, duration, burns while tanning, and type of tanning device during an in-person interview. We calculated odds ratios (OR) and 95% confidence intervals (CI) using multivariate logistic regression with never indoor tanners as the referent group. Results Ever indoor tanning was associated with a 69% increased risk of early-onset BCC (95% CI=1.15-2.48). This association was stronger among women (OR=2.14, 95% CI=1.31-3.47), for multiple BCCs (OR=2.16, 95% CI=1.26-3.70), and for BCCs on the trunk and extremities (OR=2.81, 95% CI=1.57-5.02). Risk increased dose-dependently with years used regular indoor tanning devices (p-trend=0.003), number of overall burns (p-trend=<0.001) and burns to biopsy site (p-trend=<0.001) from indoor tanning. Approximately one-quarter (27%) of early-onset BCCs (or 43% among women) could be prevented if individuals never tanned indoors. Limitations Potential recall bias of indoor tanning by cases and generalizability of the control population suggest replication in other studies is warranted. Conclusions Indoor tanning was a strong risk factor for early-onset BCC, particularly among women. Indoor tanning should continue to be targeted by both policy-based and behavioral interventions, as the impact on BCC-associated morbidity may be substantial.

Ferrucci, Leah M.; Cartmel, Brenda; Molinaro, Annette M.; Leffell, David J.; Bale, Allen E.; Mayne, Susan T.

2011-01-01

227

Does Diagnostic Classification of Early-Onset Psychosis Change over Follow-Up?  

ERIC Educational Resources Information Center

|Objective: To examine the diagnostic stability and the functional outcome of patients with early-onset psychosis (EOP) over a 2-year follow-up period. Methods: A total of 24 patients (18 males (75%) and 6 females (25%), mean age [plus or minus] SD: 15.7 [plus or minus] 1.6 years) with a first episode of EOP formed the sample. Psychotic symptoms…

Fraguas, David; de Castro, Maria J.; Medina, Oscar; Parellada, Mara; Moreno, Dolores; Graell, Montserrat; Merchan-Naranjo, Jessica; Arango, Celso

2008-01-01

228

Evaluating Lynch syndrome in very early onset colorectal cancer probands without apparent polyposis  

Microsoft Academic Search

To characterize the frequency of germline mutations associated with Lynch syndrome and review the potential expanded differential\\u000a diagnoses in very early onset colorectal cancer (CRC) cases without apparent polyposis. Retrospectively reviewed medical records\\u000a of 96 probands with CRC diagnosed prior to age 36 from three cancer centers. Determined the frequency of germline mutations\\u000a in probands meeting different clinical criteria used

Kory W. Jasperson; Thuy M. Vu; Angela L. Schwab; Deborah W. Neklason; Miguel A. Rodriguez-Bigas; Randall W. Burt; Jeffrey N. Weitzel

2010-01-01

229

Clinical features of early onset, familial Alzheimer`s disease linked to chromosome 14  

Microsoft Academic Search

Early onset familial Alzheimer`s disease (AD) has an autosomal dominant mode of inheritance. Two genes are responsible for the majority of cases of this subtype of AD. Mutations in the β-amyloid precursor protein (βAPP) gene on chromosome 21 have been shown to completely cosegregate with the disease. We and others have previously described the clinical features of families with βAPP

Michael Mullan; Craig Bennett; Cecilia Figueredo; F. Crawford; Rebecca Mant; Michael Owen; Andrew Warren; Melvin McInnis; Anne Marshall; Peter Lantos; John Collinge; Alison Goate; Henry Houlden

1995-01-01

230

Inheritance of a Stable Mutation in a Family with Early-Onset Disease  

Microsoft Academic Search

Autosomal\\/dominant polycystic kidney disease (ADPKD) exhibits a high inter- and intrafamilial heterogeneity partly explained by the involvement of at least 3 different genes in the disorder transmission. PKD1, the major locus, is located on chromosome 16p. The occurrence of very early-onset cases of ADPKD (sometimes in utero) in a few PKD1 families or the increased severity of the disease in

R. A. Perrichot; B. Mercier; L. de Parscau; P. M. Simon; J. Cledes; C. Ferec

2001-01-01

231

Mutational Analysis in Early-Onset Familial Dementia in the Japanese Population  

Microsoft Academic Search

Background: Three major causative genes have been implicated as the cause of early-onset familial Alzheimer’s disease (AD): the amyloid precursor protein gene (APP), presenilin-1 (PSEN1) and PSEN2. Although rare, a tau-related dementia with mutations in the microtubule-associated protein tau gene (MAPT) has been identified in patients showing clinical presentations similar to those of AD. Methods: We performed mutational analysis of

Takeshi Ikeuchi; Hiroyuki Kaneko; Akinori Miyashita; Hiroaki Nozaki; Kensaku Kasuga; Tamao Tsukie; Miyuki Tsuchiya; Toru Imamura; Hideki Ishizu; Kenju Aoki; Atsushi Ishikawa; Osamu Onodera; Ryozo Kuwano; Masatoyo Nishizawa

2008-01-01

232

Mononucleotide microsatellite instability and germlineMSH6 mutation analysis in early onset colorectal cancer  

Microsoft Academic Search

Germline mutations in the MSH2 andMLH1 mismatch repair genes account for most cases of hereditary non-polyposis colon cancer syndrome (HNPCC). In addition, germline MSH2 andMLH1 mutations have been detected in patients with non-HNPCC early onset colorectal cancer. GermlineMSH6 mutations appear to be rare in classical HNPCC families, but their frequency in young colorectal cancer cases has not been studied previously.

Loveena Verma; Michael F Kane; Cecilia Brassett; James Schmeits; D Gareth R Evans; Richard D Kolodner; Eamonn R Maher

1999-01-01

233

Host Phenotype Characteristics and MC1R in Relation to Early-Onset Basal Cell Carcinoma  

Microsoft Academic Search

Basal cell carcinoma (BCC) incidence is increasing, particularly among adults under the age of 40 years. Pigment-related characteristics are associated with BCC in older populations, but epidemiologic studies among younger individuals and analyses of phenotype–genotype interactions are limited. We examined self-reported phenotypes and melanocortin 1 receptor gene (MC1R) variants in relation to early-onset BCC. BCC cases (n=377) and controls with

Leah M Ferrucci; Brenda Cartmel; Annette M Molinaro; Patricia B Gordon; David J Leffell; Allen E Bale; Susan T Mayne

2012-01-01

234

Common variants at five new loci associated with early-onset inflammatory bowel disease  

Microsoft Academic Search

The inflammatory bowel diseases (IBD) Crohn's disease and ulcerative colitis are common causes of morbidity in children and young adults in the western world. Here we report the results of a genome-wide association study in early-onset IBD involving 3,426 affected individuals and 11,963 genetically matched controls recruited through international collaborations in Europe and North America, thereby extending the results from

Marcin Imielinski; Robert N Baldassano; Anne Griffiths; Richard K Russell; Vito Annese; Marla Dubinsky; Subra Kugathasan; Jonathan P Bradfield; Thomas D Walters; Patrick Sleiman; Cecilia E Kim; Aleixo Muise; Kai Wang; Joseph T Glessner; Shehzad Saeed; Haitao Zhang; Edward C Frackelton; Cuiping Hou; James H Flory; George Otieno; Rosetta M Chiavacci; Robert Grundmeier; Massimo Castro; Anna Latiano; Bruno Dallapiccola; Joanne Stempak; Debra J Abrams; Kent Taylor; Dermot McGovern; Melvin B Heyman; George D Ferry; Barbara Kirschner; Jessica Lee; Jonah Essers; Richard Grand; Michael Stephens; Arie Levine; David Piccoli; Johan Van Limbergen; Salvatore Cucchiara; Dimitri S Monos; Stephen L Guthery; Lee Denson; David C Wilson; Struan F A Grant; Mark Daly; Mark S Silverberg; Jack Satsangi; Hakon Hakonarson

2009-01-01

235

Course of intelligence deficits in early onset, first episode schizophrenia: a controlled, 5-year longitudinal study  

Microsoft Academic Search

Only few prospective longitudinal studies have assessed the course of intelligence deficits in early onset schizophrenia (EOS),\\u000a and these have used different age appropriate versions of Wechsler Intelligence Scales and age appropriate norms. The post-psychotic\\u000a development of intelligence in EOS has predominantly been characterized as relatively stable in these studies. However, comparisons\\u000a of IQs from different test versions based on

Jens Richardt Moellegaard Jepsen; Birgitte Fagerlund; Anne Katrine Pagsberg; Anne Marie R. Christensen; Rikke W. Hilker; Merete Nordentoft; Erik L. Mortensen

2010-01-01

236

Continued early onset group B streptococcal infections in the era of intrapartum prophylaxis  

Microsoft Academic Search

ObjectiveThe objective of the study was to determine the rate of early onset group B streptococcus (EOGBS) infection in Utah and identify potential areas of failure in EOGBS prevention.Study DesignWe queried the microbiology records of Intermountain Healthcare for infants with culture-confirmed EOGBS between 1 January 2002 and 31 May 2006 and calculated rates of EOGBS per 1000 deliveries. We reviewed

L S Pulver; M M Hopfenbeck; P C Young; G J Stoddard; K Korgenski; J Daly; C L Byington

2009-01-01

237

FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome  

Microsoft Academic Search

BACKGROUND: The combination of early-onset, progressive parkinsonism with pyramidal tract signs has been known as pallido-pyramidal or parkinsonian-pyramidal syndrome since the first description by Davison in 1954. Very recently, a locus was mapped in a single family with an overlapping phenotype, and an FBXO7 gene mutation was nominated as the likely disease cause. METHODS: We performed clinical and genetic studies

A. Di Fonzo; M. C. J. Dekker; P. Montagna; A. Baruzzi; E. H. Yonova; L. Correia Guedes; A. Szczerbinska; T. Zhao; L. O. M. Dubbel-Hulsman; C. H. Wouters; E. de Graaff; W. J. G. Oyen; E. J. Simons; G. J. Breedveld; B. A. Oostra; M. W. I. M. Horstink; V. Bonifati

2009-01-01

238

Risk for early-onset schizophrenia assessed via gray-matter distributions.  

PubMed

Automated image analysis algorithms were used to measure regional gray matter volumes in children with early-onset schizophrenia. Logistic regression analysis of gray matter volumes within Brodman areas was used to test the ability to predict whether a subject was normal or schizophrenic. The ROC area-under-the-curve was 0.84 +/- 0.15 across the 10 cross validation groups indicating good discrimination between schizophrenic and normal subjects. PMID:16779211

Christensen, James D

2005-01-01

239

Rare autosomal copy number variations in early-onset familial Alzheimer's disease.  

PubMed

Over 200 rare and fully penetrant pathogenic mutations in amyloid precursor protein (APP), presenilin 1 and 2 (PSEN1 and PSEN2) cause a subset of early-onset familial Alzheimer's disease (EO-FAD). Of these, 21 cases of EO-FAD families carrying unique APP locus duplications remain the only pathogenic copy number variations (CNVs) identified to date in Alzheimer's disease (AD). Using high-density DNA microarrays, we performed a comprehensive genome-wide analysis for the presence of rare CNVs in 261 EO-FAD and early/mixed-onset pedigrees. Our analysis revealed 10 novel private CNVs in 10 EO-FAD families overlapping a set of genes that includes: A2BP1, ABAT, CDH2, CRMP1, DMRT1, EPHA5, EPHA6, ERMP1, EVC, EVC2, FLJ35024 and VLDLR. In addition, CNVs encompassing two known frontotemporal dementia genes, CHMP2B and MAPT were found. To our knowledge, this is the first study reporting rare gene-rich CNVs in EO-FAD and early/mixed-onset AD that are likely to underlie pathogenicity in familial AD and perhaps related dementias.Molecular Psychiatry advance online publication, 11 June 2013; doi:10.1038/mp.2013.77. PMID:23752245

Hooli, B V; Kovacs-Vajna, Z M; Mullin, K; Blumenthal, M A; Mattheisen, M; Zhang, C; Lange, C; Mohapatra, G; Bertram, L; Tanzi, R E

2013-06-11

240

In utero arsenic exposure induces early onset of atherosclerosis in ApoE-/- mice.  

PubMed

Consumption of arsenic contaminated drinking water has been linked to higher rates of coronary disease, stroke, and peripheral arterial disease. Recent evidence suggests that early life exposures may play a significant role in the onset of chronic adult diseases. To investigate the potential for in utero arsenic exposure to accelerate the onset of cardiovascular disease we exposed pregnant ApoE-knockout (ApoE(-/-)) mice to arsenic in their drinking water and examined the aortic trees of their male offspring for evidence of early disease 10 and 16 weeks after birth. Mice were maintained on normal chow after weaning. ApoE(-/-) mice are a commonly used model for atherogenesis and spontaneously develop atherosclerotic disease. Mice exposed to arsenic in utero showed a >2-fold increase in lesion formation in the aortic roots as well as the aortic arch compared to control mice at both 10 and 16 weeks of age. The mice exposed to arsenic also had a 20-40% decrease in total triglycerides, but no change in total cholesterol, phospholipids and total abundance of VLDL or HDL particles. Subfractionation of VLDL particles showed a decrease in large VLDL particles. In addition, the arsenic-exposed mice showed a vasorelaxation defect in response to acetylcholine suggesting disturbance of endothelial cell signalling. These results indicate that in utero arsenic exposure induces an early onset of atherosclerosis in ApoE(-/-) mice without a hyperlipidemic diet and support the hypothesis that in utero arsenic exposure may be atherogenic in humans. PMID:17317095

Srivastava, Sanjay; D'Souza, Stanley E; Sen, Utpal; States, J Christopher

2007-01-25

241

Delayed- and early-onset hypotheses of antipsychotic drug action in the negative symptoms of schizophrenia.  

PubMed

The competing hypotheses that the action onset to antipsychotic medication assumes a course of early- or a delayed-response have been tested in positive and not negative symptoms in schizophrenia. The current study aims to test the early- and delayed-onset hypotheses with regard to negative symptoms. Data were re-analyzed from three clinical trials that compared placebo or amisulpride for up to 60 day. Participants had predominantly negative symptoms of schizophrenia (n=487). Response was examined with the incremental percentage Scale for the Assessment of Negative Symptoms (SANS) reduction over time. Response to the treatment, visit and treatment-visit interaction was assessed with mixed-modeling. Effect size differences on response between the amisulpride and placebo groups were reported at each visit. Across trials, mixed modeling showed that the incremental SANS reductions by the treatment-visit interaction that tests the action-onset hypothesis were not statistically significantly different across periods. The effect size differences of medication less placebo in the incremental percent SANS reduction showed non-significant differences based on overlapping confidence intervals with a moderate improvement at 8-14 day (ES=.33; 95% CI: -.07,.31), the least improvement at 28-30 day (ES=.12; 95% CI: -.07,.31), and a moderate improvement at 42-60 day to (ES=.39, 95%, CI: .19,.60). Generally, early- and delayed-response differences to antipsychotic were limited. PMID:22507686

Levine, Stephen Z; Leucht, Stefan

2012-04-14

242

The course of angiogenic factors in early- vs. late-onset preeclampsia and HELLP syndrome.  

PubMed

Abstract Aims: Preeclampsia (PE) is considered a uniformly progressive disease, however, it shows a different pattern of clinical progression in patients with early (<34 weeks) or late (?34 weeks) onset of the disease. Angiogenic factors such as soluble fms-like tyrosine kinase 1 (sFlt-1) and placental growth factor (PlGF) are closely related to the clinical course of PE. We evaluated sFlt-1 and PlGF levels in the clinical course of PE in women admitted with a diagnosis of PE at different gestational ages. Methods: This retrospective study included 34 patients with PE, of which 11 patients had HELLP syndrome (over a period of 3 years). Serial measurements of sFlt-1 and PlGF were completed from admission until delivery. Values are presented as mean±standard deviation. Results: Mean gestational age of admission among women with early onset PE was significantly lower, at 29±3 weeks compared to 37±1 weeks among patients with late onset disease. Mean prolongation of pregnancy was 6 days, which was similar within the two groups. Compared to women with late onset PE, women with early-onset PE had a greater increase in sFlt-1 (11% vs. 3% per day, P<0.05), greater decrease in PlGF levels (21% vs. 10% per day, P=0.30), resulting in a much higher increase in sFlt-1/PlGF ratio (23% vs. 8% per day, P<0.05). Patients with HELLP syndrome showed comparable progression patterns. Conclusion: In a similar way to the progressively worsening clinical course observed in women with early onset PE, there were changes in the angiogenic profile that leads to a more anti-angiogenic state in these women with each passing day. These findings may have implications in identification of the women for appropriate patient management and possible future therapies based on the reduction of sFlt-1 levels. PMID:23612628

Schaarschmidt, Wiebke; Rana, Sarosh; Stepan, Holger

2013-09-01

243

Effect of early onset otitis media on brainstem and cortical auditory processing  

PubMed Central

Background Otitis media (OM) leads to significant reduction in the hearing sensitivity. The reduced auditory input, if in the early years of life when the auditory neural system is still maturing, may adversely influence the structural as well as functional development of the system. Past research has reported abnormalities in both the structure and function of brainstem nuclei following auditory deprivation, but, it has not necessarily focused on children who had OM in their first year of life. It can also be said that if auditory processing is affected at the brainstem level because of early onset OM (reduced auditory input in the crucial periods of neural development), then, it may be said that auditory processing is also affected at the cortical level because it receives distorted input from the brainstem. Therefore, the purpose of this study was to document the effects of early onset OM on auditory processing, if any, at the brainstem as well as at cortical levels. A related purpose of the study was to investigate the persistence of the effects of early onset OM, if any, on auditory processing. Methods A cross sectional approach and a standard group comparison design was used in the study. Thirty children, who had OM between 6 and 12 months of age and who were in the age range of 3.1 – 5.6 years participated in the study. Children with OM were divided into 3 groups based on their age. Click evoked auditory brainstem responses (ABRs) and late latency responses (LLRs) were recorded from these children, and the responses were compared with those from age and gender matched normal children without any history of OM. The data from the 2 groups was statistically analyzed through independent t test. Pearson's Product Moment correlation was computed to examine the relationship between results of ABR and LLR in children with early onset OM. Results The mean central conduction time was significantly increased and the mean amplitude of wave I and III of ABRs was significantly reduced in children with early onset OM compared to normal children. Also, the latency of all LLR waves was significantly less in children with early onset OM than in normal children. However, significant differences in mean values of either ABR or LLR (latencies or interwave intervals as the case may be) were observed only in 3-year old children. There was a significant, but negative association between central conduction time and latency of LLRs. Conclusion OM in the first year of life leads to negative effects on brainstem signal processing even if it has occurred only for a short duration (maximum of 3 months). In such a situation, auditory cortical structures probably show compensatory changes through central gain to offset the prolonged central conduction time. Although the results of the present study showed that the negative effects of early onset OM (occurring in the first year of life) on auditory processing disappeared by the time the children were 4.1 years, there is need for longitudinal studies on this to confirm the findings.

Maruthy, Sandeep; Mannarukrishnaiah, Jayaram

2008-01-01

244

Neuropeptide Y Gene Polymorphisms Confer Risk of Early-Onset Atherosclerosis  

PubMed Central

Neuropeptide Y (NPY) is a strong candidate gene for coronary artery disease (CAD). We have previously identified genetic linkage to familial CAD in the genomic region of NPY. We performed follow-up genetic, biostatistical, and functional analysis of NPY in early-onset CAD. In familial CAD (GENECARD, N?=?420 families), we found increased microsatellite linkage to chromosome 7p14 (OSA LOD?=?4.2, p?=?0.004) in 97 earliest age-of-onset families. Tagged NPY SNPs demonstrated linkage to CAD of a 6-SNP block (LOD?=?1.58–2.72), family-based association of this block with CAD (p?=?0.02), and stronger linkage to CAD in the earliest age-of-onset families. Association of this 6-SNP block with CAD was validated in: (a) 556 non-familial early-onset CAD cases and 256 controls (OR 1.46–1.65, p?=?0.01–0.05), showing stronger association in youngest cases (OR 1.84–2.20, p?=?0.0004–0.09); and (b) GENECARD probands versus non-familial controls (OR 1.79–2.06, p?=?0.003–0.02). A promoter SNP (rs16147) within this 6-SNP block was associated with higher plasma NPY levels (p?=?0.04). To assess a causal role of NPY in atherosclerosis, we applied the NPY1-receptor–antagonist BIBP-3226 adventitially to endothelium-denuded carotid arteries of apolipoprotein E-deficient mice; treatment reduced atherosclerotic neointimal area by 50% (p?=?0.03). Thus, NPY variants associate with atherosclerosis in two independent datasets (with strong age-of-onset effects) and show allele-specific expression with NPY levels, while NPY receptor antagonism reduces atherosclerosis in mice. We conclude that NPY contributes to atherosclerosis pathogenesis.

Shah, Svati H.; Freedman, Neil J.; Zhang, Lisheng; Crosslin, David R.; Stone, David H.; Haynes, Carol; Johnson, Jessica; Nelson, Sarah; Wang, Liyong; Connelly, Jessica J.; Muehlbauer, Michael; Ginsburg, Geoffrey S.; Crossman, David C.; Jones, Christopher J. H.; Vance, Jeffery; Sketch, Michael H.; Granger, Christopher B.; Newgard, Christopher B.; Gregory, Simon G.; Goldschmidt-Clermont, Pascal J.; Kraus, William E.; Hauser, Elizabeth R.

2009-01-01

245

Evaluation of intrapartum antibiotic prophylaxis for the prevention of early-onset group B streptococcal infection.  

PubMed

We retrospectively assessed the medical records of pregnant women who delivered at Asahikawa Kosei Hospital during a period of 3 years between January 2009 and December 2011 and their neonates. Our prophylactic measures against group B Streptococcus (GBS) infection are based on the Japanese guidelines. More specifically, we performed screening by examining bacterial cultures of vaginal-perianal swabs from pregnant women between gestational weeks 33 and 37. Then, sulbactam/ampicillin (SBT/ABPC) was given at a dose of 1.5 g through a drip intravenous infusion at delivery if pregnant women were screened positive for GBS. For neonates born to GBS carrier women, bacterial cultures of pharyngeal swabs, vernix caseosa, stool, and gastric juice were performed at birth. There were 2,399 deliveries and 2,499 births at our hospital. In 169 of the deliveries (175 of the births), GBS was isolated from specimens obtained from gestational weeks 33-37. According to delivery mode, there were 42 cases of cesarean section (45 births) and 127 cases of vaginal delivery (130 births). The GBS-positive neonates accounted for 4.1 % of all deliveries in pregnant women who tested positive for GBS at gestational weeks 33-37. In neonates born by vaginal delivery, the GBS-positive rate was 5.5 %. Of the 2,499 neonates born at our hospital during a period of 3 years, early-onset GBS infection occurred in 1 neonate. The incidence of early-onset GBS infection was 0.40 per 1,000 live births. From 1997 to 2001 (routine GBS screening of mothers was not performed), there were 2,097 deliveries and 2,166 births. Early-onset GBS infection occurred in 1 neonate during this period; thus, the incidence of early-onset GBS infection was 0.46 per 1,000 live births. There were no significant differences in the two periods. The present prophylactic measures such as screening of maternal GBS carriers and intrapartum antibiotic administration are inadequate to decrease the occurrence of early-onset GBS infection. PMID:22614121

Sakata, Hiroshi

2012-05-22

246

Early responses of periodontal ligament cells to mechanical stimulus in vivo.  

PubMed

Previous studies have indicated that human periodontal ligament cells undergo osteoblastic differentiation via the ERK pathway under mechanical stress in vitro. This study aimed to verify this principle in vivo. The right upper first molars of 25 anesthetized rats were loaded with constant forces of 0.1 N for up to 8 hrs. The untreated contralateral side served as a control. Paraffin-embedded sections were analyzed by immunohistochemistry for proliferating cell nuclear antigen (PCNA), runt-related transcription factor 2 (Runx2/Cbfa1), and phosphorylated extracellular signal-regulated kinases 1/2 (pERK1/2). In selected areas under tension, the proportions of Runx2-positive and pERK1/2-positive cells increased within 8 hrs of loading, whereas these proportions in selected areas under pressure were significantly lower than those in control teeth. Moreover, there were no significant changes in the number of PCNA-positive cells. Thus, mechanical stimulus up-regulates Runx2, and this regulation may be achieved via the ERK pathway. PMID:16183788

Kawarizadeh, A; Bourauel, C; Götz, W; Jäger, A

2005-10-01

247

Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice  

PubMed Central

In humans, MPV17 mutations are responsible for severe mitochondrial depletion syndrome, mainly affecting the liver and the nervous system. To gain insight into physiopathology of MPV17-related disease, we investigated an available Mpv17 knockout animal model. We found severe mtDNA depletion in liver and, albeit to a lesser extent, in skeletal muscle, whereas hardly any depletion was detected in brain and kidney, up to 1 year after birth. Mouse embryonic fibroblasts did show mtDNA depletion, but only after several culturing passages, or in a serumless culturing medium. In spite of severe mtDNA depletion, only moderate decrease in respiratory chain enzymatic activities, and mild cytoarchitectural alterations, were observed in the Mpv17?/? livers, but neither cirrhosis nor failure ever occurred in this organ at any age. The mtDNA transcription rate was markedly increased in liver, which could contribute to compensate the severe mtDNA depletion. This phenomenon was associated with specific downregulation of Mterf1, a negative modulator of mtDNA transcription. The most relevant clinical features involved skin, inner ear and kidney. The coat of the Mpv17?/? mice turned gray early in adulthood, and 18-month or older mice developed focal segmental glomerulosclerosis (FSGS) with massive proteinuria. Concomitant degeneration of cochlear sensory epithelia was reported as well. These symptoms were associated with significantly shorter lifespan. Coincidental with the onset of FSGS, there was hardly any mtDNA left in the glomerular tufts. These results demonstrate that Mpv17 controls mtDNA copy number by a highly tissue- and possibly cytotype-specific mechanism.

Viscomi, Carlo; Spinazzola, Antonella; Maggioni, Marco; Fernandez-Vizarra, Erika; Massa, Valeria; Pagano, Claudio; Vettor, Roberto; Mora, Marina; Zeviani, Massimo

2009-01-01

248

Inflammation-induced immune suppression of the fetus: a potential link between chorioamnionitis and postnatal early onset sepsis.  

PubMed

Chorioamnionitis which results from microbial invasion of the amniotic cavity is the most frequent cause of preterm birth. Chorioamnionitis is associated with an increased risk of early-onset sepsis but the mechanisms underlying this association remain largely unknown. We hypothesize that developmental alterations of fetal organs and the immune system in the course of chorioamnionitis determine the risk of development of early onset sepsis. The purpose of this review is therefore to summarize the consequences of chorioamnionitis on fetal development and speculate how those antenatal changes might predispose to early onset sepsis. PMID:22348330

Wolfs, Tim G A M; Jellema, Reint K; Turrisi, Giovanni; Becucci, Elisa; Buonocore, Giuseppe; Kramer, Boris W

2012-03-02

249

Toll-Like Receptor 2 Gene Polymorphisms Associated with Aggressive Periodontitis in Japanese  

PubMed Central

Background and Objective: Aggressive periodontitis is a rare and very severe periodontal disease of early onset, which is closely associated with Porphyromonas.gingivalis (P.g.) infection in the Japanese population. TLR2 encodes Toll-like receptor 2, which plays an important role in the protective response to P.g. infection. We investigated a possible association between TLR2 and aggressive periodontitis. Material and Methods: Of 2,460 Japanese patients with periodontitis, 38 patients with aggressive periodontitis were enrolled in this study. These 38 aggressive periodontitis patients and 190 Japanese healthy controls were examined for an insertion/deletion (Ins/Del) polymorphism in exon 1, a polymorphism in intron 1 (rs7696323), and a synonymous polymorphism in exon 3 (rs3804100) in TLR2. Results: We found significant associations of resistance to aggressive periodontitis with the Ins allele (allele frequency in the patients versus controls, 0.540 vs. 0.676, OR=0.56, 95% confidence interval (CI); 0.34-0.92, p=0.022) and the T allele of rs3804100 (0.579 vs. 0.716, OR=0.55, 95% CI; 0.33-0.91, p=0.018), although the C allele of rs7696323 showed no significant association (0.733 vs. 0.829, OR=0.58). A permutation test of Ins/Del-rs7696323-rs3804100 haplotype revealed a significant association between Ins-C-T haplotype (0.252 vs. 0.479, p=0.0003) and resistance to aggressive periodontitis. Conclusions: The TLR2 polymorphisms were suggested to confer protection against aggressive periodontitis in a Japanese population. The association should be replicated in other cohorts to further identify the responsible TLR polymorphism(s) involved in the pathogenesis of aggressive periodontitis.

Takahashi, Marika; Chen, Zhiyong; Watanabe, Kaoru; Kobayashi, Hiroaki; Nakajima, Toshiaki; Kimura, Akinori; Izumi, Yuichi

2011-01-01

250

CCM3 Mutations Are Associated with Early-Onset Cerebral Hemorrhage and Multiple Meningiomas  

PubMed Central

Mutations of CCM3/PDCD10 cause 10-15% of hereditary cerebral cavernous malformations. The phenotypic characterization of CCM3-mutated patients has been hampered by the limited number of patients harboring a mutation in this gene. This is the first report on molecular and clinical features of a large cohort of CCM3 patients. Molecular screening for point mutations and deletions was used to identify 54 CCM3-mutated index patients. Age at referral and clinical onset, type of inaugural events and presence of extra-axial lesions were investigated in these 54 index patients and 22 of their mutated relatives. Mean age at clinical onset was 23.0 ± 16 years. Clinical onset occurred before 10 years in 26% of the patients, and cerebral hemorrhage was the initial presentation in 72% of these patients. Multiple extra-axial, dural-based lesions were detected in 7 unrelated patients. These lesions proved to be meningiomas in 3 patients who underwent neurosurgery and pathological examination. This ‘multiple meningiomas’ phenotype is not associated with a specific CCM3 mutation. Hence, CCM3 mutations are associated with a high risk of early-onset cerebral hemorrhage and with the presence of multiple meningiomas.

Riant, F.; Bergametti, F.; Fournier, H.-D.; Chapon, F.; Michalak-Provost, S.; Cecillon, M.; Lejeune, P.; Hosseini, H.; Choe, C.; Orth, M.; Bernreuther, C.; Boulday, G.; Denier, C.; Labauge, P.; Tournier-Lasserve, E.

2013-01-01

251

[Early detection on the onset of scarlet fever epidemics in Beijing, using the Cumulative Sum].  

PubMed

Based on data related to scarlet fever which was collected from the Disease Surveillance Information Reporting System in Beijing from 2005 to 2011, to explore the efficiency of Cumulative Sum (CUSUM) in detecting the onset of scarlet fever epidcmics. Models as C1-MILD (C1), C2-MEDIUM (C2) and C3-ULTRA (C3) were used. Tools for evaluation as Youden's index and detection time were calculated to optimize the parameters and optimal model. Data on 2011 scarlet fever surveillance was used to verify the efficacy of these models. C1 (k = 0.5, H = 2?), C2 (k = 0.7, H = 2?), C3 (k = 1.1, H = 2?) appeared to be the optimal parameters among these models. Youden's index of C1 was 83.0% and detection time being 0.64 weeks, Youden's index of C2 was 85.4% and detection time being 1.27 weeks, Youden's index of C1 was 85.1% and detection time being 1.36 weeks. Among the three early warning detection models, C1 had the highest efficacy. Three models all triggered the signals within 4 weeks after the onset of scarlet fever epidemics. The early warning detection model of CUSUM could be used to detect the onset of scarlet fever epidemics, with good efficacy. PMID:24016449

Li, Jing; Yang, Peng; Wu, Shuang-sheng; Wang, Xiao-li; Liu, Shuang; Wang, Quan-yi

2013-05-01

252

Linkage of early-onset osteoarthritis and chondrocalcinosis to human chromosome 8q  

SciTech Connect

Calcium pyrophosphate-deposition disease (CPDD), also called {open_quotes}chondrocalcinosis{close_quotes} or {open_quotes}pseudogout{close_quotes}, is a disorder characterized by the deposition of calcium-containing crystals in joint tissue, which leads to arthritis-like symptoms. The presence of these crystals in joint tissue is a common finding in the elderly, and, in this population, there is a poor correlation with joint pain. In contrast, early-onset CPDD has been described in several large families in which the disease progresses to severe degenerative osteoarthritis (OA). In these families, an autosomal dominant mode of inheritance is observed, with an age at onset between the 2nd and 5th decades of life. In this report, we describe a large New England family with early-onset CPDD and severe degenerative OA. We found genetic linkage between the disease in this family and chromosome 8q, with a multipoint lod score of 4.06. These results suggest that a defective gene at this location causes the disease in this family. 29 refs., 2 figs., 1 tab.

Baldwin, C.T.; Farrer, L.A.; Adair, R. [Boston Univ. School of Medicine, MA (United States); Dharmavaram, R.; Jimenez, S. [Thomas Jefferson Univ., Philadelphia, PA (United States); Anderson, L. [Rheumatology Associates, Portland, ME (United States)

1995-03-01

253

Early-onset drug use and risk for drug dependence problems  

PubMed Central

There is substantial evidence that alcohol, tobacco, and cannabis dependence problems surface more quickly when use of these drugs starts before adulthood, but the evidence based on other internationally regulated drugs (e.g., cocaine) is meager. With focus on an interval of up to 24 months following first drug use, we examine drug-specific and age-specific variation in profiles of early-emerging clinical features associated with drug dependence. Based upon the United States National Surveys on Drug Use and Health (NSDUH) conducted in 2000–2002, the risk of experiencing drug dependence problems was robustly greater for adolescent recent-onset users of cocaine, psychostimulant drugs other than cocaine, analgesics, anxiolytic medicines, inhalants drugs, and cannabis, as compared to adult recent-onset users (odds ratio=1.5~4.3, p<0.05). This was not the case for the NSDUH hallucinogens group (e.g., LSD). The adolescent onset associated excess risk was not constant across all clinical features. Our evidence suggests promoting earlier detection and interventions, as well as greater parent and peer awareness of drug dependence clinical features that may develop early among young people who have just started using drugs.

Chen, Chuan-Yu; Storr, Carla L.; Anthony, James C.

2009-01-01

254

Familial risk of early and late onset cancer: nationwide prospective cohort study  

PubMed Central

Objective To determine whether familial risk of cancer is limited to early onset cases. Design Nationwide prospective cohort study. Setting Nationwide Swedish Family-Cancer Database. Participants All Swedes born after 1931 and their biological parents, totalling >12.2 million individuals, including >1.1 million cases of first primary cancer. Main outcome measures Familial risks of the concordant cancers by age at diagnosis. Results The highest familial risk was seen for offspring whose parents were diagnosed at an early age. Familial risks were significantly increased for colorectal, lung, breast, prostate, and urinary bladder cancer and melanoma, skin squamous cell carcinoma, and non-Hodgkin’s lymphoma, even when parents were diagnosed at age 70-79 or 80-89. When parents were diagnosed at more advanced ages (?90), the risk of concordant cancer in offspring was still significantly increased for skin squamous cell carcinoma (hazard ratio 1.9, 95% confidence interval 1.4 to 2.7), colorectal (1.6, 1.2 to 2.0), breast (1.3, 1.0 to 1.6), and prostate cancer (1.3, 1.1 to 1.6). For offspring with a cancer diagnosed at ages 60-76 whose parents were affected at age <50, familial risks were not significantly increased for nearly all cancers. Conclusion Though the highest familial risks of cancer are seen in offspring whose parents received a diagnosis of a concordant cancer at earlier ages, increased risks exist even in cancers of advanced ages. Familial cancers might not be early onset in people whose family members were affected at older ages and so familial cancers might have distinct early and late onset components.

2012-01-01

255

Angiogenic Factors in Women Ten Years after Severe Very Early Onset Preeclampsia  

PubMed Central

Background Women with a history of mainly severe and early onset preeclampsia have an increased risk of future cardiovascular disease. During these complicated pregnancies increased levels of anti-angiogenic factors can be found. We hypothesize that women with a history of severe very early onset preeclampsia still have increased levels of these biomarkers years after this pregnancy, resulting in increased risk for cardiovascular disease. Methods Twenty women with severe early onset preeclampsia before 24 weeks' gestation, who delivered between 1993–2003 in a tertiary referral centre and twenty matched controls with uncomplicated pregnancies and healthy term infants, were addressed for participation in the study. Venous plasma samples were analyzed for basic fibroblast growth factor (bFGF), placental growth factor (PLGF), soluble fms-like tyrosine kinase-1 (sFlt-1), vascular endothelial growth factor (VEGF), E- and P-selectin, soluble intercellular adhesion molecule-3 (sICAM-3) and thrombomodulin by ELISA. Results Sixteen case subjects and 18 control subjects consented participation. The median time interval index pregnancy to study was 9.4 and 9.7 years for cases and controls, respectively. Median levels for cases-controls (p-value) were not different; bFGF: 17.43–11.11 pg/mL (0.33), sFlt-1: 102.98–101.92 pg/ml (0.84), PLGF: 3.57–4.20 pg/mL (0.38), VEGF: 64.05–45.72 pg/mL (0.73), E-selectin: 5.11–4.68 ng/mL (0.20), P-selectin: 85.35–71.69 ng/mL (0.69), sICAM-3: 0.42–0.63 ng/mL (0.41) and Thrombomodulin: 0.92–0.93 ng/mL (0.59). Conclusion There were no differences in angiogenic biomarkers between women with a history of severe early onset preeclampsia versus uncomplicated pregnancy almost 10 years later, suggesting that these angiogenic factors will not contribute to the early detection of women at risk for future cardiovascular disease.

Gaugler-Senden, Ingrid P. M.; Tamsma, Jouke T.; van der Bent, Chris; Kusters, Ron; Steegers, Eric A. P.; de Groot, Christianne J. M.

2012-01-01

256

Psychiatric disorders in the relatives of depressed probands I. Comparison of prepubertal, adolescent and early adult onset cases  

Microsoft Academic Search

Research with adults suggests that early onset of depression is associated with increased rates of depression among relatives. This paper presents results of a family study that tested the hypothesis that prepubertal depression was associated with a greater familial loading of depression than the postpubertal form, which in turn had a greater familial loading than adult onset depression. Probands were

Richard Harrington; Michael Rutter; Myrna Weissman; Hazel Fudge; Christine Groothues; Diana Bredenkamp; Andrew Pickles; Richard Rende; Priya Wickramaratne

1997-01-01

257

Early Onset Mandibuloacral Dysplasia due to Compound Heterozygous Mutations in ZMPSTE24  

PubMed Central

Mandibuloacral dysplasia (MAD) is an autosomal recessive disorder characterized by hypoplasia of the mandible and clavicles, acro-osteolysis and lipodystrophy due to mutations in LMNA or ZMPSTE24. Only six MAD patients are reported so far with ZMPSTE24 mutations and limited phenotypic data are available for them. Here, we report on two brothers (4 years and 9 months old) with early onset MAD due to ZMPSTE24 mutations in whom thin skin was noted as early as 5 months of age. Both had micrognathia, mottled hyperpigmentation, and enlarged fontanelles but little evidence of lipodystrophy. There was no delay of mental development. The older brother showed small pinched nose, short clavicles, acro-osteolysis, stunted growth, joint stiffness, and repeated fractures. There was no evidence of renal disease. Both patients were compound heterozygotes harboring a previously reported missense ZMPSTE24 mutation, p.Pro248Leu and a novel null mutation, p.Trp450stop. These patients and the review of literature reveals that compared to MAD patients with LMNA mutations, those with ZMPSTE24 mutations develop manifestations earlier in life. Other distinguishing features in MAD due to ZMPSTE24 mutations may include premature birth, renal disease, calcified skin nodules, and lack of acanthosis nigricans. We conclude that in patients with MAD due to ZMPSTE24 mutations, the onset of disease manifestations such as thin skin and micrognathia occurs as early as 5 months of age. In these patients, skeletal phenotype presents earlier whereas lipodystrophy and renal disease may occur later in life.

Ahmad, Zahid; Zackai, Elaine; Medne, Livija; Garg, Abhimanyu

2010-01-01

258

Early-onset alopecia and amyotrophic lateral sclerosis: a cohort study.  

PubMed

A recent meta-analysis of 7 genome-wide association studies on early balding (alopecia) revealed single nucleotide polymorphism variants in the region of the amyotrophic lateral sclerosis (ALS) gene TAR DNA-binding protein 43 (TARDBP/TDP-43). We therefore explored the association of early-onset alopecia and ALS in the Health Professionals Follow-up Study, a large cohort of 51,529 US men. In 1992, the participants (then aged 46-81 years) were asked to report their hair line pattern at age 45 years. During the follow-up period (1992-2008), 42 men were diagnosed with ALS. Of those, 13 had reported no alopecia, 18 had reported moderate alopecia, and 11 had reported extensive alopecia at age 45 years. Those who reported extensive alopecia had an almost 3-fold increased risk of ALS compared with those who reported no alopecia (relative risk = 2.74, 95% confidence interval: 1.23, 6.13). Furthermore, we observed a linear trend of increased risk of ALS with increasing level of balding at age 45 years (Ptrend = 0.02). In conclusion, men with early-onset alopecia seem to have a higher risk of ALS. The mechanisms underlying this association deserve further investigation. PMID:23942216

Fondell, Elinor; Fitzgerald, Kathryn C; Falcone, Guido J; O'Reilly, Eilis J; Ascherio, Alberto

2013-08-13

259

A case of severe progressive early-onset epileptic encephalopathy: unique GABAergic interneuron distribution and imaging.  

PubMed

Early-onset epileptic encephalopathies include various diseases such as early-infantile epileptic encephalopathy with suppression burst. We experimentally investigated the unique clinicopathological features of a 28-month-old girl with early-onset epileptic encephalopathy. Her initial symptom was intractable epilepsy with a suppression-burst pattern of electroencephalography (EEG) from 7 days of age. The suppression-burst pattern was novel, appearing during sleep, but disappearing upon waking and after becoming 2 months old. The EEG showed multifocal spikes and altered with age. Her seizures demonstrated various clinical features and continued until death. She did not show any developmental features, including no social smiling or head control. Head MRI revealed progressive atrophy of the cerebral cortex and white matter after 1 month of age. (123)IMZ-SPECT demonstrated hypo-perfusion of the cerebral cortex, but normo-perfusion of the diencephalon and cerebellum. Such imaging information indicated GABA-A receptor dysfunction of the cerebral cortex. The genetic analyses of major neonatal epilepsies showed no mutation. The neuropathology revealed atrophy and severe edema of the cerebral cortex and white matter. GAD-immunohistochemistry exhibited imbalanced distribution of GABAergic interneurons between the striatum and cerebral cortex. The results were similar to those of focal cortical dysplasia with transmantle sign and X-linked lissencephaly with ARX mutation. We performed various metabolic examinations, detailed pathological investigations and genetic analyses, but could not identify the cause. To our knowledge, her clinical and pathological courses have never been described in the literature. PMID:23422026

Inoue, T; Kawawaki, H; Kuki, I; Nabatame, S; Tomonoh, Y; Sukigara, S; Horino, A; Nukui, M; Okazaki, S; Tomiwa, K; Kimura-Ohba, S; Inoue, T; Hirose, S; Shiomi, M; Itoh, M

2013-02-16

260

A genomewide scan for early-onset coronary artery disease in 438 families: the GENECARD Study.  

PubMed

A family history of coronary artery disease (CAD), especially when the disease occurs at a young age, is a potent risk factor for CAD. DNA collection in families in which two or more siblings are affected at an early age allows identification of genetic factors for CAD by linkage analysis. We performed a genomewide scan in 1,168 individuals from 438 families, including 493 affected sibling pairs with documented onset of CAD before 51 years of age in men and before 56 years of age in women. We prospectively defined three phenotypic subsets of families: (1) acute coronary syndrome in two or more siblings; (2) absence of type 2 diabetes in all affected siblings; and (3) atherogenic dyslipidemia in any one sibling. Genotypes were analyzed for 395 microsatellite markers. Regions were defined as providing evidence for linkage if they provided parametric two-point LOD scores >1.5, together with nonparametric multipoint LOD scores >1.0. Regions on chromosomes 3q13 (multipoint LOD = 3.3; empirical P value <.001) and 5q31 (multipoint LOD = 1.4; empirical P value <.081) met these criteria in the entire data set, and regions on chromosomes 1q25, 3q13, 7p14, and 19p13 met these criteria in one or more of the subsets. Two regions, 3q13 and 1q25, met the criteria for genomewide significance. We have identified a region on chromosome 3q13 that is linked to early-onset CAD, as well as additional regions of interest that will require further analysis. These data provide initial areas of the human genome where further investigation may reveal susceptibility genes for early-onset CAD. PMID:15272420

Hauser, Elizabeth R; Crossman, David C; Granger, Christopher B; Haines, Jonathan L; Jones, Christopher J H; Mooser, Vincent; McAdam, Brendan; Winkelmann, Bernhard R; Wiseman, Alan H; Muhlestein, J Brent; Bartel, Alan G; Dennis, Charles A; Dowdy, Elaine; Estabrooks, Susan; Eggleston, Karen; Francis, Sheila; Roche, Kath; Clevenger, Paula W; Huang, Liling; Pedersen, Bonnie; Shah, Svati; Schmidt, Silke; Haynes, Carol; West, Sandra; Asper, Donny; Booze, Michael; Sharma, Sanjay; Sundseth, Scott; Middleton, Lefkos; Roses, Allen D; Hauser, Michael A; Vance, Jeffery M; Pericak-Vance, Margaret A; Kraus, William E

2004-07-22

261

Prediction of early-onset asthma in genetically at-risk children.  

PubMed

The W.T. Grant Foundation Asthma Risk Study was designed to prospectively examine children who were considered at a genetically increased risk for the development of asthma. The respective contributions of 11 potential risk factors, both environmental and biological, were assessed in order to determine their relative roles in affecting the early onset of asthma. This is a report of an inception cohort of children born to asthmatic mothers and followed for a 3-year period. All 150 families were recruited from the general community and living within 2 h of the National Jewish Center for Immunology and Respiratory Medicine (Denver, CO). Mothers in the index risk sample had been previously diagnosed with asthma and were recruited during their pregnancy through physician referrals and media solicitation. The index sample of 150 families was 92% Caucasian and predominantly middle class. The mean age of mothers was 29.3 years, and of fathers, 31.1 years. The main outcome was the determination of the early onset of asthma and its association with quantified risk factors. By age 3 years, 14 of the 150 children had developed asthma. Frequent illness, IgE levels at age 6 months, parenting difficulties, and early eczema were significantly associated with the onset of asthma (P = 0.003, P = 0.006, P = 0.01, and P = 0.03, respectively). Only frequent illness, elevated serum IgE levels, and parenting difficulties entered a predictive model where they were independently related to the development of asthma. PMID:10088931

Mrazek, D A; Klinnert, M; Mrazek, P J; Brower, A; McCormick, D; Rubin, B; Ikle, D; Kastner, W; Larsen, G; Harbeck, R; Jones, J

1999-02-01

262

The natural history of early-onset dementia: the Artemis Project  

PubMed Central

Objectives The natural history of early-onset Alzheimer's disease (AD) and fronto-temporal dementia (FTD) remains to be described in detail. We seek to describe the natural history of early onset AD and FTD in terms of changes in cognitive assessment and staging, medical history and survival. Design Longitudinal prospective cohort analysis. Setting Neurodegenerative disorders research clinic. Participants In total, 155 consecutive patients with clinically confirmed sporadic early-onset AD or FTD at a neurodegenerative disorders research clinic in Subiaco, Western Australia (The Artemis Project). Methods A detailed history was recorded from the patients at baseline, including education, family history and medical history. Mini-mental state exam (MMSE), Global Deterioration Scale (GDS) and total functional capacity (TFC) were determined at each visit from 1994 until 2011. Kaplan-Meier survival analysis was performed. Results Patients with FTD were more likely to have a family history of dementia (p=0.026), to develop at least one cerebrovascular risk factor (p=0.003), manifest depression (Fisher's exact p=0.007) and to die during the follow-up period (Pearson ?2 8.97, p=0.003). Kaplan-Meier survival estimates revealed a highly significant difference in the proportion of patients surviving the follow-up period (log rank 7.25, p=0.007) with FTD patients experiencing poorer survival than those with AD. The mean MMSE and TFC were consistently lower in those with FTD compared with those with AD over a decade of follow-up; mean GDS was consistently higher in those with FTD over the follow-up period. Conclusions We believe that the difference in survival in patients with AD and FTD in our cohort might relate to the development of one or more cerebrovascular risk factors in FTD patients and the severity of the underlying pathology.

Atkins, Emily R; Bulsara, Max K; Panegyres, Peter K

2012-01-01

263

The Burden of Invasive Early-Onset Neonatal Sepsis in the United States, 2005-2008  

PubMed Central

Background Sepsis in the first 3 days of life is a leading cause of morbidity and mortality among infants. Group B Streptococcus (GBS), historically the primary cause of early-onset sepsis, has declined through widespread use of intrapartum chemoprophylaxis. We estimated the national burden of invasive early-onset sepsis (EOS) cases and deaths in the era of GBS prevention. Methods Population-based surveillance for invasive EOS was conducted in 4 of CDC’s Active Bacterial Core surveillance (ABCs) sites from 2005–2008. We calculated incidence using state and national live birth files. Estimates of the national number of cases and deaths were calculated, standardizing by race and gestational age. Results ABCs identified 658 cases of EOS; 72 (10.9%) were fatal. Overall incidence remained stable during the three years (2005:0.77 cases/1,000 live births; 2008:0.76 cases/1,000 live births). GBS (~38%) was the most commonly reported pathogen followed by Escherichia coli (~24%). Black preterm infants had the highest incidence (5.14 cases/1,000 live births) and case fatality (24.4%). Non-black term infants had the lowest incidence (0.40 cases/1,000 live births) and case fatality (1.6%). The estimated national annual burden of EOS was approximately 3,320 cases (95% CI: 3,060–3,580) including 390 deaths (95% CI: 300–490). Among preterm infants, 1,570 cases (95% CI: 1,400–1,770; 47.3% of the overall) and 360 deaths (95% CI: 280–460; 92.3% of the overall) occurred annually. Conclusions The burden of invasive early-onset sepsis remains substantial in the era of GBS prevention and disproportionately affects preterm and black infants. Identification of strategies to prevent preterm births is needed to reduce the neonatal sepsis burden.

Weston, Emily J.; Pondo, Tracy; Lewis, Melissa M.; Martell-Cleary, Pat; Morin, Craig; Jewell, Brenda; Daily, Pam; Apostol, Mirasol; Petit, Sue; Farley, Monica; Lynfield, Ruth; Reingold, Art; Hansen, Nellie I.; Stoll, Barbara J.; Shane, Andi L.; Zell, Elizabeth; Schrag, Stephanie J.

2011-01-01

264

Inactivating Mutations in GT198 in Familial and Early-Onset Breast and Ovarian Cancers  

PubMed Central

The human GT198 gene (gene symbol PSMC3IP) is located at chromosome 17q21, 470 kb proximal to BRCA1, a locus previously linked to breast and ovarian cancer predisposition. Its protein product (also known as TBPIP and Hop2) has been shown to regulate steroid hormone receptor–mediated gene activation and to stimulate homologous recombination in DNA repair. Here, we screened germline mutations in GT198 in familial and early-onset breast and ovarian cancer patients. We have identified 8 germline variants in a total of 212 index patients including reoccurring nonsense mutation c.310C>T (p.Q104X) and 5? UTR mutation c.-37A>T, each found in 2 unrelated families. Most identified index patients from cancer families had early onsets with a median age of 35 years. c.310C>T was absent in a total of 564 control individuals analyzed. GT198 gene amplification with an imbalanced mutant copy gain was identified in the blood DNA of one of the patients carrying c.310C>T. When tested, this truncating mutation abolished DNA damage–induced Rad51 foci formation. In addition, we have identified 15 somatic mutations in 2 tumors from 1 patient carrying germline mutation c.-37A>T. The presence of a somatic mutation on the wild-type allele showed that GT198 was biallelically mutated in the tumor. The somatic mutations identified near a splicing junction site caused defective alternative splicing and truncated the open reading frame. Therefore, distinct mutations may cause a similar consequence by truncating the full-length protein and inducing a loss of the wild type. Our study provides the first evidence of the presence of inactivating mutations in GT198 in familial and early-onset breast and ovarian cancer patients. Mutations in GT198, a gene regulating DNA repair, potentially contribute to an increased risk in familial breast and ovarian cancers.

Peng, Min; Bakker, Janine L.; DiCioccio, Richard A.; Gille, Johan J.P.; Zhao, Hua; Odunsi, Kunle; Sucheston, Lara; Jaafar, Lahcen; Mivechi, Nahid F.; Waisfisz, Quinten

2013-01-01

265

Identification of inherited genetic variations influencing prognosis in early-onset breast cancer.  

PubMed

Genome-Wide Association Studies (GWAS) have begun to investigate associations between inherited genetic variations and breast cancer prognosis. Here, we report our findings from a GWAS conducted in 536 patients with early-onset breast cancer aged 40 or less at diagnosis and with a mean follow-up period of 4.1 years (SD = 1.96). Patients were selected from the Prospective Study of Outcomes in Sporadic versus Hereditary breast cancer. A Bonferroni correction for multiple testing determined that a P value of 1.0 × 10(-7) was a statistically significant association signal. Following quality control, we identified 487,496 single nucleotide polymorphisms (SNP) for association tests in stage 1. In stage 2, 35 SNPs with the most significant associations were genotyped in 1,516 independent cases from the same early-onset cohort. In stage 2, 11 SNPs remained associated in the same direction (P ? 0.05). Fixed effects meta-analysis models identified one SNP associated at close to genome wide level of significance 556 kb upstream of the ARRDC3 locus [HR = 1.61; 95% confidence interval (CI), 1.33-1.96; P = 9.5 × 10(-7)]. Four further associations at or close to the PBX1, ROR?, NTN1, and SYT6 loci also came close to genome-wide significance levels (P = 10(-6)). In the first ever GWAS for the identification of SNPs associated with prognosis in patients with early-onset breast cancer, we report a SNP upstream of the ARRDC3 locus as potentially associated with prognosis (median follow-up time for genotypes: CC = 4 years, CT = 3 years, and TT = 2.7 years; Wilcoxon rank-sum test CC vs. CT, P = 4 × 10(-4) and CT vs. TT, P = 0.76). Four further loci may also be associated with prognosis. PMID:23319801

Rafiq, Sajjad; Tapper, William; Collins, Andrew; Khan, Sofia; Politopoulos, Ioannis; Gerty, Sue; Blomqvist, Carl; Couch, Fergus J; Nevanlinna, Heli; Liu, Jianjun; Eccles, Diana

2013-01-14

266

Inactivating Mutations in GT198 in Familial and Early-Onset Breast and Ovarian Cancers.  

PubMed

The human GT198 gene (gene symbol PSMC3IP) is located at chromosome 17q21, 470 kb proximal to BRCA1, a locus previously linked to breast and ovarian cancer predisposition. Its protein product (also known as TBPIP and Hop2) has been shown to regulate steroid hormone receptor-mediated gene activation and to stimulate homologous recombination in DNA repair. Here, we screened germline mutations in GT198 in familial and early-onset breast and ovarian cancer patients. We have identified 8 germline variants in a total of 212 index patients including reoccurring nonsense mutation c.310C>T (p.Q104X) and 5' UTR mutation c.-37A>T, each found in 2 unrelated families. Most identified index patients from cancer families had early onsets with a median age of 35 years. c.310C>T was absent in a total of 564 control individuals analyzed. GT198 gene amplification with an imbalanced mutant copy gain was identified in the blood DNA of one of the patients carrying c.310C>T. When tested, this truncating mutation abolished DNA damage-induced Rad51 foci formation. In addition, we have identified 15 somatic mutations in 2 tumors from 1 patient carrying germline mutation c.-37A>T. The presence of a somatic mutation on the wild-type allele showed that GT198 was biallelically mutated in the tumor. The somatic mutations identified near a splicing junction site caused defective alternative splicing and truncated the open reading frame. Therefore, distinct mutations may cause a similar consequence by truncating the full-length protein and inducing a loss of the wild type. Our study provides the first evidence of the presence of inactivating mutations in GT198 in familial and early-onset breast and ovarian cancer patients. Mutations in GT198, a gene regulating DNA repair, potentially contribute to an increased risk in familial breast and ovarian cancers. PMID:23946868

Peng, Min; Bakker, Janine L; Dicioccio, Richard A; Gille, Johan J P; Zhao, Hua; Odunsi, Kunle; Sucheston, Lara; Jaafar, Lahcen; Mivechi, Nahid F; Waisfisz, Quinten; Ko, Lan

2013-01-01

267

Functional and Structural Changes in the Retina of Wire-Haired Dachshunds with Early-Onset Cone-Rod Dystrophy  

Microsoft Academic Search

PURPOSE. To describe and classify the morphologic changes in a naturally occurring dog model of early-onset cone-rod dys- trophy (CRD) and to correlate these with earlier described clinical characteristics of the disease in dogs. METHODS. Purpose-bred Standard Wire-Haired Dachshunds (SWHDs) derived from a large pedigree of dogs with early- onset CRD were euthanatized at defined ages to characterize morphologic changes

Ernst O. Ropstad; Kristina Narfstrom; Frode Lingaas; Caroline Wiik; Anitha Bruun; Ellen Bjerkås

2008-01-01

268

Low frequency of melanocortin-4 receptor (MC4R) mutations in a Mediterranean population with early-onset obesity  

Microsoft Academic Search

Background: Melanocortin-4 receptor (MC4R) mutations have been reported as the most common single genetic cause of obesity in some populations and it has been suggested that they may be responsible for more than 4% of early-onset obesity.Objectives: To verify the presence of mutations of the MC4R coding region in children from southern Italy with early-onset obesity.Subjects and Methods: Two-hundred and

E Miraglia del Giudice; G Cirillo; V Nigro; N Santoro; L D'Urso; P Raimondo; D Cozzolino; D Scafato; L Perrone

2002-01-01

269

CYP450 polymorphisms as risk factors for early-onset lung cancer: gender-specific differences.  

PubMed

Cytochrome P450 (CYP) enzymes, involved in metabolism of tobacco carcinogens, are also involved in estrogen metabolism and many are regulated by estrogens. These genes may thus be of relevance to gender-specific differences in lung cancer risk, particularly in early-onset lung cancer, where a high proportion of women is observed. We conducted a case-control study to investigate genetic polymorphisms in cytochromes that might modify the risk of developing early-onset lung cancer. In total, 638 Caucasian patients under the age of 51 with primary lung cancer and 1300 cancer-free control individuals, matched by age and sex, were included in this analysis. Thirteen polymorphisms in the CYP1A1, CYP1B1, CYP2A13, CYP3A4 and CYP3A5 genes were analyzed. No significant association was found for any of the analyzed polymorphisms and lung cancer risk overall. However, among women, a significantly increased risk of early-onset lung cancer was observed for carriers of the minor allele of CYP1B1 SNP rs1056836 [odds ratio (OR) 1.97; 95% confidence interval (CI) 1.32-2.94; P < 0.001]. Also, a non-significant increase in lung cancer risk was observed in the group of women carriers of the minor allele of CYP2A13 SNP rs1709084 (OR 1.64; 95% CI 1.00-2.70; P = 0.05). The effect of these two polymorphisms was shown to be modified by smoking. Haplotype analysis was performed for CYP1B1 and CYP2A13. No differences between cases and controls were observed for both genes (P = 0.63 and P = 0.42 for CYP1B1 and CYP2A13, respectively). Our results suggest that the CYP1B1 and the CYP2A13 genotypes may contribute to individual susceptibility to early-onset lung cancer in women. PMID:19414505

Timofeeva, Maria N; Kropp, Silke; Sauter, Wiebke; Beckmann, Lars; Rosenberger, Albert; Illig, Thomas; Jäger, Birgit; Mittelstrass, Kirstin; Dienemann, Hendrik; Bartsch, Helmut; Bickeböller, Heike; Chang-Claude, Jenny C; Risch, Angela; Wichmann, Heinz-Erich

2009-05-04

270

Attention deficit-hyperactivity disorder and early-onset bipolar disorder: two facets of one entity?  

PubMed Central

Early-onset bipolar disorder (BD) and attention-deficithyperactivity disorder (ADHD) have recently been the subject of highly controversial debate, due to theories regarding underlying pathophysiological processes and a clinical overlap of symptoms. Epidemiological data, clinical aspect, neuroimaging, neurochemical, and genetic studies suggest that there may be a possible relationship between biological factors and clinical characteristic in the development of symptoms. However, longitudinal data supporting the hypothesis of a diagnostic shift from BD to ADHD symptoms and vice versa are currently not available. These would be essential to enable further investigations into whether these two disorders possibly represent two different aspects of an underlying common psychopathophysioiogical entity.

Zepf, Florian D.

2009-01-01

271

Electroretinographic findings in the Standard Wire Haired Dachshund with inherited early onset cone–rod dystrophy  

Microsoft Academic Search

Purpose  To describe electroretinographic (ERG) findings in a strain of Standard Wire Haired Dachshund (SWHD)-derived dogs at the ages\\u000a of approximately 5, 8 and 52 weeks selected for inherited early onset cone–rod dystrophy.\\u000a \\u000a \\u000a \\u000a Methods  Nineteen affected and 13 age-matched control SWHDs were included in the study. All dogs were subjected to standardized bilateral\\u000a Ganzfeld ERGs and ophthalmoscopic examinations at regular intervals.\\u000a \\u000a \\u000a \\u000a Results  Photopic cone-derived

Ernst O. Ropstad; Ellen Bjerkås; Kristina Narfström

2007-01-01

272

Probable Early-Onset Alzheimer’s Disease in an Apolipoprotein E2 Homozygote  

Microsoft Academic Search

Objective: To describe a case of early-onset Alzheimer’s disease (AD) in an apolipoprotein (Apo) ε2\\/ε2 homozygote. Background: Apo ε2\\/ε2 is the rarest of the ApoE genotypes, representing only 1.4% of the population. Cognitive decline in ApoE ε2 homozygotes has rarely been reported. Case Report\\/Methods: We report a 58-year-old Apo ε2\\/ε2 female who meets clinical criteria for probable AD as confirmed

Lauren Cole; Christine Belden; Sandra Jacobson; Carolyn Liebsack; Kent Myers; Cornelia Reninger; Camryn Berk; Marwan N. Sabbagh

2010-01-01

273

Sunbed use during adolescence and early adulthood is associated with increased risk of early-onset melanoma  

PubMed Central

Sunbed use is associated with increased risk of melanoma. Younger people might be more susceptible to the carcinogenic effects of ultraviolet radiation. We investigated the association between sunbed use and risk of early-onset cutaneous malignant melanoma. From the Australian Melanoma Family Study, a multi-centre, population-based, case-control-family study, we analysed data for 604 cases diagnosed between ages 18 and 39 years and 479 controls. Data were collected by interview. Associations were estimated as odds ratios (ORs) using unconditional logistic regression, adjusting for age, sex, city, education, family history, skin colour, usual skin response to sunlight, and sun exposure. Compared with having never used a sunbed, the OR for melanoma associated with ever-use was 1.41 (95% confidence interval (CI) 1.01-1.96), and 2.01 (95% CI 1.22-3.31) for more than 10 lifetime sessions (Ptrend 0.01 with cumulative use). The association was stronger for earlier age at first use (Ptrend 0.02). The association was also stronger for melanoma diagnosed when aged 18-29 years (OR for more than 10 lifetime sessions = 6.57, 95% CI 1.41-30.49) than for melanoma diagnosed when 30-39 years (OR 1.60, 95% CI 0.92-2.77; Pinteraction 0.01). Among those who had ever used a sunbed and were diagnosed between 18-29 years of age, three quarters (76%) of melanomas were attributable to sunbed use. Sunbed use is associated with increased risk of early-onset melanoma, with risk increasing with greater use, an earlier age at first use and for earlier onset disease.

Cust, Anne E; Armstrong, Bruce K; Goumas, Chris; Jenkins, Mark A; Schmid, Helen; Hopper, John L; Kefford, Richard F; Giles, Graham G; Aitken, Joanne F; Mann, Graham J

2010-01-01

274

Sunbed use during adolescence and early adulthood is associated with increased risk of early-onset melanoma.  

PubMed

Sunbed use is associated with increased risk of melanoma. Younger people might be more susceptible to the carcinogenic effects of ultraviolet radiation. We investigated the association between sunbed use and risk of early-onset cutaneous malignant melanoma. From the Australian Melanoma Family Study, a multicentre, population-based, case-control-family study, we analysed data for 604 cases diagnosed between ages 18 and 39 years and 479 controls. Data were collected by interview. Associations were estimated as odds ratios (ORs) using unconditional logistic regression, adjusting for age, sex, city, education, family history, skin color, usual skin response to sunlight and sun exposure. Compared with having never used a sunbed, the OR for melanoma associated with ever-use was 1.41 (95% confidence interval (CI) 1.01-1.96), and 2.01 (95% CI 1.22-3.31) for more than 10 lifetime sessions (P(trend) 0.01 with cumulative use). The association was stronger for earlier age at first use (P(trend) 0.02). The association was also stronger for melanoma diagnosed when aged 18-29 years (OR for more than 10 lifetime sessions = 6.57, 95% CI 1.41-30.49) than for melanoma diagnosed when 30-39 years (OR 1.60, 95% CI 0.92-2.77; P(interaction) 0.01). Among those who had ever used a sunbed and were diagnosed between 18 and 29 years of age, three quarters (76%) of melanomas were attributable to sunbed use. Sunbed use is associated with increased risk of early-onset melanoma, with risk increasing with greater use, an earlier age at first use and for earlier onset disease. PMID:20669232

Cust, Anne E; Armstrong, Bruce K; Goumas, Chris; Jenkins, Mark A; Schmid, Helen; Hopper, John L; Kefford, Richard F; Giles, Graham G; Aitken, Joanne F; Mann, Graham J

2011-05-15

275

Changes in subcortical structures in early- versus late-onset Alzheimer's disease.  

PubMed

Patients with early-onset Alzheimer's disease (EOAD) are reported to be different from those with late-onset Alzheimer's disease (LOAD) in terms of neuropsychological and neuroimaging findings. In this study, we aimed to compare the longitudinal volume changes of 6 subcortical structures (the amygdala, hippocampus, thalamus, putamen, globus pallidus, and caudate nucleus) between patients with EOAD and LOAD for 3 years. We prospectively recruited 36 patients with probable Alzheimer's disease (14 EOAD, 22 LOAD) and 14 normal control subjects. We analyzed the volume of subcortical structures using an automatic surface-based method. At baseline, there were no differences in the volumes of subcortical structures between patients with EOAD and LOAD. However, over 3 years of longitudinal follow-up, patients with EOAD showed more rapid volumetric decline in the caudate, putamen, and thalamus than patients with LOAD, which is consistent with neuropsychological results. Our findings suggested that the cognitive reserve theory might be applicable to explain different decline rates of the volumes of the basal ganglia and thalamus according to onset age. PMID:23394958

Cho, Hanna; Seo, Sang Won; Kim, Jeong-Hun; Kim, Changsoo; Ye, Byoung Seok; Kim, Geon Ha; Noh, Young; Kim, Hee Jin; Yoon, Cindy W; Seong, Joon-Kyung; Kim, Chang-Hun; Kang, Sue J; Chin, Juhee; Kim, Sung Tae; Lee, Kyung-Han; Na, Duk L

2013-02-08

276

Speech acoustic markers of early stage and prodromal Huntington's disease: a marker of disease onset?  

PubMed

Speech disturbances (e.g., altered prosody) have been described in symptomatic Huntington's Disease (HD) individuals, however, the extent to which speech changes in gene positive pre-manifest (PreHD) individuals is largely unknown. The speech of individuals carrying the mutant HTT gene is a behavioural/motor/cognitive marker demonstrating some potential as an objective indicator of early HD onset and disease progression. Speech samples were acquired from 30 individuals carrying the mutant HTT gene (13 PreHD, 17 early stage HD) and 15 matched controls. Participants read a passage, produced a monologue and said the days of the week. Data were analysed acoustically for measures of timing, frequency and intensity. There was a clear effect of group across most acoustic measures, so that speech performance differed in-line with disease progression. Comparisons across groups revealed significant differences between the control and the early stage HD group on measures of timing (e.g., speech rate). Participants carrying the mutant HTT gene presented with slower rates of speech, took longer to say words and produced greater silences between and within words compared to healthy controls. Importantly, speech rate showed a significant correlation to burden of disease scores. The speech of early stage HD differed significantly from controls. The speech of PreHD, although not reaching significance, tended to lie between the performance of controls and early stage HD. This suggests that changes in speech production appear to be developing prior to diagnosis. PMID:22982606

Vogel, Adam P; Shirbin, Christopher; Churchyard, Andrew J; Stout, Julie C

2012-09-14

277

Generation of a novel mouse model that recapitulates early and adult onset glycogenosis type IV  

PubMed Central

Glycogen storage disease type IV (GSD IV) is a rare autosomal recessive disorder caused by deficiency of the glycogen branching enzyme (GBE). The diagnostic feature of the disease is the accumulation of a poorly branched form of glycogen known as polyglucosan (PG). The disease is clinically heterogeneous, with variable tissue involvement and age of disease onset. Absence of enzyme activity is lethal in utero or in infancy affecting primarily muscle and liver. However, residual enzyme activity (5–20%) leads to juvenile or adult onset of a disorder that primarily affects muscle as well as central and peripheral nervous system. Here, we describe two mouse models of GSD IV that reflect this spectrum of disease. Homologous recombination was used to insert flippase recognition target recombination sites around exon 7 of the Gbe1 gene and a phosphoglycerate kinase-Neomycin cassette within intron 7, leading to a reduced synthesis of GBE. Mice bearing this mutation (Gbe1neo/neo) exhibit a phenotype similar to juvenile onset GSD IV, with wide spread accumulation of PG. Meanwhile, FLPe-mediated homozygous deletion of exon 7 completely eliminated GBE activity (Gbe1?/?), leading to a phenotype of lethal early onset GSD IV, with significant in utero accumulation of PG. Adult mice with residual GBE exhibit progressive neuromuscular dysfunction and die prematurely. Differently from muscle, PG in liver is a degradable source of glucose and readily depleted by fasting, emphasizing that there are structural and regulatory differences in glycogen metabolism among tissues. Both mouse models recapitulate typical histological and physiological features of two human variants of branching enzyme deficiency.

Akman, H. Orhan; Sheiko, Tatiana; Tay, Stacey K.H.; Finegold, Milton J.; DiMauro, Salvatore; Craigen, William J.

2011-01-01

278

Altered Kv3.3 channel gating in early-onset spinocerebellar ataxia type 13.  

PubMed

Mutations in Kv3.3 cause spinocerebellar ataxia type 13 (SCA13). Depending on the causative mutation, SCA13 is either a neurodevelopmental disorder that is evident in infancy or a progressive neurodegenerative disease that emerges during adulthood. Previous studies did not clarify the relationship between these distinct clinical phenotypes and the effects of SCA13 mutations on Kv3.3 function. The F448L mutation alters channel gating and causes early-onset SCA13. R420H and R423H suppress Kv3 current amplitude by a dominant negative mechanism. However, R420H results in the adult form of the disease whereas R423H produces the early-onset, neurodevelopmental form with significant clinical overlap with F448L. Since individuals with SCA13 have one wild type and one mutant allele of the Kv3.3 gene, we analysed the properties of tetrameric channels formed by mixtures of wild type and mutant subunits. We report that one R420H subunit and at least one R423H subunit can co-assemble with the wild type protein to form active channels. The functional properties of channels containing R420H and wild type subunits strongly resemble those of wild type alone. In contrast, channels containing R423H and wild type subunits show significantly altered gating, including a hyperpolarized shift in the voltage dependence of activation, slower activation, and modestly slower deactivation. Notably, these effects resemble the modified gating seen in channels containing a mixture of F448L and wild type subunits, although the F448L subunit slows deactivation more dramatically than the R423H subunit. Our results suggest that the clinical severity of R423H reflects its dual dominant negative and dominant gain of function effects. However, as shown by R420H, reducing current amplitude without altering gating does not result in infant onset disease. Therefore, our data strongly suggest that changes in Kv3.3 gating contribute significantly to an early age of onset in SCA13. PMID:22289912

Minassian, Natali A; Lin, Meng-Chin A; Papazian, Diane M

2012-01-30

279

Macrophage migration inhibitory factor (MIF): genetic evidence for participation in early onset and early stage rheumatoid arthritis.  

PubMed

Macrophage migration inhibitory factor (MIF) is an upstream pro-inflammatory cytokine that is associated with the pathogenesis of autoimmune inflammatory diseases including rheumatoid arthritis (RA). Two polymorphisms in the upstream region exist in the MIF gene and are associated with RA susceptibility or severity in different populations. In this case-control study, we investigated whether MIF polymorphisms are associated with RA susceptibility or activity in a western Mexican population .The relationship of MIF levels with clinical features of disease also was assessed. Genotyping of the -794 CATT5-8 (rs5844572) and the -173 G>C (rs755622) polymorphisms was performed by PCR and PCR-RFLP respectively on 226 RA patients and 210 healthy subjects. Serum MIF levels were determined by ELISA. We found a significant association between the -794 CATT5-8 6,7 MIF genotype with RA. Moreover, we detected an association between the -794 CATT7 allele with early onset RA. The -794 CATT7 and -173(*)C alleles, which are in linkage disequilibrium, were associated with high disease activity on RA patients. A positive correlation between circulating MIF levels and C-reactive protein, erythrocyte sedimentation rate, rheumatoid factor, anti-citrullinated protein/peptides antibodies and TNF? was detected. MIF levels appear to be associated with disease progression rather than disease activity, which is distinct from the established relationship between disease activity and TNF? levels. In conclusion, the MIF gene and protein are associated with RA in a western Mexican population, with a main contribution onto early onset and early stages of disease. PMID:23402792

Llamas-Covarrubias, M A; Valle, Y; Bucala, R; Navarro-Hernández, R E; Palafox-Sánchez, C A; Padilla-Gutiérrez, J R; Parra-Rojas, I; Bernard-Medina, A G; Reyes-Castillo, Z; Muñoz-Valle, J F

2013-02-09

280

Executive deficits in early onset bipolar disorder versus ADHD: impact of processing speed and lifetime psychosis.  

PubMed

Executive deficits are reported in both early onset bipolar disorder (BD) and attention-deficit hyperactivity disorder (ADHD), and controversies regarding comorbidity and symptom overlap have complicated the research on executive function in BD. Reports of the negative impact of executive difficulties on academic functioning indicate a need for a greater focus on executive difficulties in early onset psychiatric disorders. Executive function and processing speed in youths with BD (n = 4), ADHD (n = 26) and BD + ADHD (n = 13) were compared with controls (n = 69). All clinical groups demonstrated executive impairment. The combined group was most impaired. There were no significant differences between the groups. Executive deficit in the BD group was associated with a history of psychotic symptoms. The BD-nonpsychotic group was impaired only with regard to processing speed. Processing speed adjustment improved working memory and normalized interference control in both BD and ADHD. Conclusion: executive deficits in BD may be determined by a history of psychotic symptoms rather than by comorbid ADHD. Some aspects of executive problems appear speed-related. PMID:22977268

Udal, Anne Helseth; Øygarden, Bjørg; Egeland, Jens; Malt, Ulrik Fredrik; Løvdahl, Hans; Pripp, Are Hugo; Grøholt, Berit

2012-09-13

281

Dominant Renin Gene Mutations Associated with Early-Onset Hyperuricemia, Anemia, and Chronic Kidney Failure  

PubMed Central

Through linkage analysis and candidate gene sequencing, we identified three unrelated families with the autosomal-dominant inheritance of early onset anemia, hypouricosuric hyperuricemia, progressive kidney failure, and mutations resulting either in the deletion (p.Leu16del) or the amino acid exchange (p.Leu16Arg) of a single leucine residue in the signal sequence of renin. Both mutations decrease signal sequence hydrophobicity and are predicted by bioinformatic analyses to damage targeting and cotranslational translocation of preprorenin into the endoplasmic reticulum (ER). Transfection and in vitro studies confirmed that both mutations affect ER translocation and processing of nascent preprorenin, resulting either in reduced (p.Leu16del) or abolished (p.Leu16Arg) prorenin and renin biosynthesis and secretion. Expression of renin and other components of the renin-angiotensin system was decreased accordingly in kidney biopsy specimens from affected individuals. Cells stably expressing the p.Leu16del protein showed activated ER stress, unfolded protein response, and reduced growth rate. It is likely that expression of the mutant proteins has a dominant toxic effect gradually reducing the viability of renin-expressing cells. This alters the intrarenal renin-angiotensin system and the juxtaglomerular apparatus functionality and leads to nephron dropout and progressive kidney failure. Our findings provide insight into the functionality of renin-angiotensin system and stress the importance of renin analysis in families and individuals with early onset hyperuricemia, anemia, and progressive kidney failure.

Zivna, Martina; Hulkova, Helena; Matignon, Marie; Hodanova, Katerina; Vylet'al, Petr; Kalbacova, Marie; Baresova, Veronika; Sikora, Jakub; Blazkova, Hana; Zivny, Jan; Ivanek, Robert; Stranecky, Viktor; Sovova, Jana; Claes, Kathleen; Lerut, Evelyne; Fryns, Jean-Pierre; Hart, P. Suzanne; Hart, Thomas C.; Adams, Jeremy N.; Pawtowski, Audrey; Clemessy, Maud; Gasc, Jean-Marie; Gubler, Marie-Claire; Antignac, Corinne; Elleder, Milan; Kapp, Katja; Grimbert, Philippe; Bleyer, Anthony J.; Kmoch, Stanislav

2009-01-01

282

Host phenotype characteristics and MC1R in relation to early-onset basal cell carcinoma  

PubMed Central

Basal cell carcinoma (BCC) incidence is increasing, particularly among adults under age 40. Pigment-related characteristics are associated with BCC in older populations, but epidemiologic studies among younger individuals and analyses of phenotype-genotype interactions are limited. We examined self-reported phenotypes and melanocortin 1 receptor gene (MC1R) variants in relation to early-onset BCC. BCC cases (n=377) and controls with benign skin conditions (n=390) under age 40 were identified through Yale’s Dermatopathology database. Factors most strongly associated with early-onset BCC were skin reaction to first summer sun for one hour [severe sunburn vs. tan odds ratio (OR)=12.27, 95% confidence interval (CI)=4.08–36.94] and skin color (very fair vs. olive OR=11.06, 95% CI=5.90–20.74). Individuals with two or more MC1R non-synonymous variants were 3.59 times (95% CI=2.37–5.43) more likely to have BCC than those without non-synonymous variants. All host characteristics and MC1R were more strongly associated with multiple BCC cases status (37% of cases) than single BCC case status. MC1R, number of moles, skin reaction to first summer sun for one hour, and hair and skin color were independently associated with BCC. BCC risk conferred by MC1R tended to be stronger among those with darker pigment phenotypes, traditionally considered to be at low-risk of skin cancer.

Ferrucci, Leah M.; Cartmel, Brenda; Molinaro, Annette M.; Gordon, Patricia B.; Leffell, David J.; Bale, Allen E.; Mayne, Susan T.

2011-01-01

283

Is the NACP/Synuclein gene involved in early-onset Alheimer`s disease?  

SciTech Connect

The major component of senile plaques (SP), the most specific histologic lesion of Alzheimer`s disease (AD) is the A4 peptide, derived from a large precursor protein (APP). Recently, a second major component of SP has been isolated. This 35 AA peptide was named non-A4 component amyloid (NAC) and its precursor - a 140 AA protein - was named NACP. Computer homology search has allowed us to establish that the NACP gene is homologous to the rat synuclein gene which is expressed in neurons. Since APP mutations have been shown to cause early-onset Alzheimer`s disease (EOAD) in several families, we investigated whether the NACP/synuclein gene was also involved in familial early-onset Alzheimer`s disease (FEOAD). RT-PCR and direct sequencing of the entire NACP open reading frame did not reveal any alteration of the NACP coding sequence in lymphocytes of 26 unrelated FEOAD patients. We showed that the NACP/synuclein gene was alternatively spliced and that the different transcripts potentially encoded for distinct proteins all containing the NAC peptide. Accumulation of NAC in SP might result from a dysregulation of NACP/synuclein expression.

Champion, D.; Clerget-Darpoux, F. [INSERM, Paris (France); Frebourg, T. [CHU de Rouen (France)

1994-09-01

284

Onset and early development of hypoxic ventilatory responses and branchial neuroepithelial cells in Xenopus laevis.  

PubMed

Onset and ontogeny of the O? chemoreceptive control of ventilation was investigated in Xenopus laevis. The density and size of branchial serotonin-immunoreactive neuroepithelial cells (5-HT-IR NECs) were also determined using confocal immunofluorescent microscopy. Larvae started gill ventilation at 3 days post-fertilization (dpf), and, at this early stage, acute hypoxic exposure produced an increase in frequency from 28 ± 4 to 60 ± 2 beats x min?¹. Concurrent with the onset of ventilatory responses, 5-HT-IR NECs appeared in the gill filament bud. Lung ventilation began at 5 dpf and exhibited a 3-fold increase in frequency during acute hypoxia. At 10 dpf, gill ventilatory sensitivity to hypoxia increased, as did NEC density, from 15 ± 1 (5 dpf) to 29 ± 2 (10 dpf) cells x mm of filament?¹. Unlike ventilation frequency, gill ventilation amplitude and lung expired volume were unaltered by acute hypoxia. Chronic exposure to moderate hypoxia, at a P(O?) of 110 mmHg, attenuated acute responses to moderate hypoxia at 10 and 14 dpf but had no effect at more severe hypoxia or at other stages. Chronic hypoxia also stimulated 5-HT-IR NECs growth at 21 dpf. Collectively, larvae at 5 dpf exhibited strong O?-driven gill and lung ventilatory responses, and between 10 and 21 dpf, the early hypoxic responses can be shaped by the ambient P(O?). PMID:20728560

Pan, Tien-Chien F; Burggren, Warren W

2010-08-20

285

Mutations in FBXL4, Encoding a Mitochondrial Protein, Cause Early-Onset Mitochondrial Encephalomyopathy  

PubMed Central

Whole-exome sequencing and autozygosity mapping studies, independently performed in subjects with defective combined mitochondrial OXPHOS-enzyme deficiencies, identified a total of nine disease-segregating FBXL4 mutations in seven unrelated mitochondrial disease families, composed of six singletons and three siblings. All subjects manifested early-onset lactic acidemia, hypotonia, and developmental delay caused by severe encephalomyopathy consistently associated with progressive cerebral atrophy and variable involvement of the white matter, deep gray nuclei, and brainstem structures. A wide range of other multisystem features were variably seen, including dysmorphism, skeletal abnormalities, poor growth, gastrointestinal dysmotility, renal tubular acidosis, seizures, and episodic metabolic failure. Mitochondrial respiratory chain deficiency was present in muscle or fibroblasts of all tested individuals, together with markedly reduced oxygen consumption rate and hyperfragmentation of the mitochondrial network in cultured cells. In muscle and fibroblasts from several subjects, substantially decreased mtDNA content was observed. FBXL4 is a member of the F-box family of proteins, some of which are involved in phosphorylation-dependent ubiquitination and/or G protein receptor coupling. We also demonstrate that FBXL4 is targeted to mitochondria and localizes in the intermembrane space, where it participates in an approximately 400 kDa protein complex. These data strongly support a role for FBXL4 in controlling bioenergetic homeostasis and mtDNA maintenance. FBXL4 mutations are a recurrent cause of mitochondrial encephalomyopathy onset in early infancy.

Gai, Xiaowu; Ghezzi, Daniele; Johnson, Mark A.; Biagosch, Caroline A.; Shamseldin, Hanan E.; Haack, Tobias B.; Reyes, Aurelio; Tsukikawa, Mai; Sheldon, Claire A.; Srinivasan, Satish; Gorza, Matteo; Kremer, Laura S.; Wieland, Thomas; Strom, Tim M.; Polyak, Erzsebet; Place, Emily; Consugar, Mark; Ostrovsky, Julian; Vidoni, Sara; Robinson, Alan J.; Wong, Lee-Jun; Sondheimer, Neal; Salih, Mustafa A.; Al-Jishi, Emtethal; Raab, Christopher P.; Bean, Charles; Furlan, Francesca; Parini, Rossella; Lamperti, Costanza; Mayr, Johannes A.; Konstantopoulou, Vassiliki; Huemer, Martina; Pierce, Eric A.; Meitinger, Thomas; Freisinger, Peter; Sperl, Wolfgang; Prokisch, Holger; Alkuraya, Fowzan S.; Falk, Marni J.; Zeviani, Massimo

2013-01-01

286

Early-onset binocularity in preterm infants reveals experience-dependent visual development in humans  

PubMed Central

Although there is a great deal of knowledge regarding the phylo- and ontogenetic plasticity of the neocortex, the precise nature of environmental impact on the newborn human brain is still one of the most controversial issues of neuroscience. The leading model–system of experience-dependent brain development is binocular vision, also called stereopsis. Here, we show that extra postnatal visual experience in preterm human neonates leads to a change in the developmental timing of binocular vision. The onset age of binocular function, as measured by the visual evoked response to dynamic random dot correlograms (DRDC-VEP), appears to be at around the same time after birth in preterm (4.07 mo) and full-term (3.78 mo) infants. To assess the integrity of the visual pathway in the studied infants, we also measured the latency of the visual-evoked response to pattern reversal stimuli (PR-VEP). PR-VEP latency is not affected by premature birth, demonstrating that the maturation of the visual pathway follows a preprogrammed developmental course. Despite the immaturity of the visual pathway, clearly demonstrated by the PR-VEP latencies, our DRCD-VEP data show that the visual cortex is remarkably ready to accept environmental stimulation right after birth. This early plasticity makes full use of the available extra stimulation time in preterm human infants and results in an early onset of cortical binocularity. According to our data, the developmental processes preceding the onset of binocular function are not preprogrammed, and the mechanisms turning on stereopsis are extremely experience-dependent in humans.

Jando, Gabor; Miko-Barath, Eszter; Marko, Katalin; Hollody, Katalin; Torok, Bela; Kovacs, Ilona

2012-01-01

287

Genome-wide association study of recurrent early-onset major depressive disorder.  

PubMed

A genome-wide association study was carried out in 1020 case subjects with recurrent early-onset major depressive disorder (MDD) (onset before age 31) and 1636 control subjects screened to exclude lifetime MDD. Subjects were genotyped with the Affymetrix 6.0 platform. After extensive quality control procedures, 671?424 autosomal single nucleotide polymorphisms (SNPs) and 25?068 X chromosome SNPs with minor allele frequency greater than 1% were available for analysis. An additional 1?892?186 HapMap II SNPs were analyzed based on imputed genotypic data. Single-SNP logistic regression trend tests were computed, with correction for ancestry-informative principal component scores. No genome-wide significant evidence for association was observed, assuming that nominal P<5 × 10(-8) approximates a 5% genome-wide significance threshold. The strongest evidence for association was observed on chromosome 18q22.1 (rs17077540, P=1.83 × 10(-7)) in a region that has produced some evidence for linkage to bipolar-I or -II disorder in several studies, within an mRNA detected in human brain tissue (BC053410) and approximately 75?kb upstream of DSEL. Comparing these results with those of a meta-analysis of three MDD GWAS data sets reported in a companion article, we note that among the strongest signals observed in the GenRED sample, the meta-analysis provided the greatest support (although not at a genome-wide significant level) for association of MDD to SNPs within SP4, a brain-specific transcription factor. Larger samples will be required to confirm the hypothesis of association between MDD (and particularly the recurrent early-onset subtype) and common SNPs. PMID:20125088

Shi, J; Potash, J B; Knowles, J A; Weissman, M M; Coryell, W; Scheftner, W A; Lawson, W B; DePaulo, J R; Gejman, P V; Sanders, A R; Johnson, J K; Adams, P; Chaudhury, S; Jancic, D; Evgrafov, O; Zvinyatskovskiy, A; Ertman, N; Gladis, M; Neimanas, K; Goodell, M; Hale, N; Ney, N; Verma, R; Mirel, D; Holmans, P; Levinson, D F

2010-02-02

288

The gene of an early onset progressive cataract (cerulean cataract) maps to 17q24  

SciTech Connect

Cerulean cataract is an autosomal dominant, fully penetrant, early onset, progressive cataract characterized by blue or white opacifications in the nucleus and cortex of the lens. A five generation family with 44 available affected members in three generations allowed exclusion of linkage of the cerulean cataract phenotype to lens structural protein genes and to all of the chromosomal regions to which autosomal dominant cataract phenotypes have previously been mapped. Exclusion of the plausible candidate instigated a genome-wide search utilizing short tandem repeat polymorphims. The genome search localized the cerulean cataract disease gene to chromosomal region 17q24. The three markers closest to the disease gene are D17S802 [Z({theta})=9.20 at ({theta})=0.086], D17S836 [Z({theta})=4.22 at ({theta})=0.061], and AFMa238yb5 [Z({theta})=7.11 at ({theta})=0.032]. Multipoint analysis yielded a maximum lod score of Z({theta})=11.4 between D17S802 and D17S836 at recombination rates of 0.048 and 0.013 respectively. Three genes that map near the 17q24 chromosomal region and are known to contain highly polymorphic microsatellites were tested for linkage. The genes, DHP-sensitive calcium channel gamma subunit (CACNLG), human somatastatin receptor (SSTR2), and the skeletal muscle sodium channel alpha subunit (SCN4A), were all excluded [Z({theta})=-{infinity} at ({theta})=0] as the gene causing cerulean cataract. The galactokinase (GK1) gene has not been cloned, but its map location is 17q23-q25. Galactokinase deficiency is characterized by a recessive, progressive, early onset cataract. Because of the map location of galactokinase, the age-at-onset, and progressive nature of cataracts associated with galactokinase deficiency, galactokinase is being investigated as a candidate gene for the cerulean cataract phenotype.

Armitage, M.M.; Ferrell, R.E. [Univ. of Pittsburgh, PA (United States); Kivlin, J.D. [Medical College of Wisconsin, Milwaukee, WI (United States)

1994-09-01

289

Neurocognitive Outcomes in Young Adults With Early-Onset Type 1 Diabetes  

PubMed Central

OBJECTIVE The aim of this study was to reexamine the neurocognitive function of a cohort of young adults with early-onset type 1 diabetes and compare their cognitive function to a matched control group. We also examined whether cognitive function was related to prospectively obtained severe hypoglycemia history, long-term glycemic control, or severe diabetic ketoacidosis. RESEARCH DESIGN AND METHODS Testing included Wechsler Intelligence Scale for Children and Adults, Wechsler Memory Scale, Cattell Culture Fair Intelligence Test (CCFIT), Wisconsin Card Sorting Test (WCST), youth and adult self-report, and Beck Depression Inventory. We tested 34 control subjects (mean ± SE, age 19.5 ± 0.5 years) and 33 type 1 diabetic subjects (age 19.3 ± 0.5 years, age at type 1 diabetes onset 3.3 ± 0.3 years, A1C from diagnosis 8.7 ± 0.1%, and diabetes duration 16.0 ± 0.5 years). RESULTS There was no difference in full-scale IQ scores in type 1 diabetic and control subjects (100.7 ± 2.0 vs. 102.5 ± 1.4). There was no difference between groups in memory subtests or in reporting of emotional and behavioral difficulties. The type 1 diabetes group scored lower on the CCFIT for fluid intelligence compared with control subjects (P = 0.028) and also scored lower on WCST with more perseverative errors (P = 0.002) and fewer categories completed (P = 0.022). CONCLUSIONS These data suggest no difference in general intellectual ability, memory, and emotional difficulties in our cohort of young adults with early-onset type 1 diabetes compared with control subjects and no deterioration over time. There were, however, findings to suggest subtle changes leading to poorer performance on complex tasks of executive function.

Ly, Trang T.; Anderson, Mike; McNamara, Kaitrin A.; Davis, Elizabeth A.; Jones, Timothy W.

2011-01-01

290

Early intervention and evaluation for adult-onset psychosis: the JCEP study rationale and design.  

PubMed

AIM: Psychotic disorders incur substantial long-term burdens to patients and society. Early intervention (EI) during the initial years of psychotic disorders can improve long-term outcome. In Hong Kong, a pilot EI programme (EASY, Early Assessment Service for Young people with psychosis) had been set up since 2001 to serve clients under 25 years of age. Although EASY has been effective in improving outcome, consolidation of early psychosis work requires further development. METHODS: The present paper describes a new EI development which targets adult patients with psychosis in Hong Kong. The Jockey Club Early Psychosis (JCEP) project was launched in 2009. Expanding the service to patients above 25 years old, JCEP aims to deliver a territory-wide specialized EI service to adult-onset psychosis patients, to promote public awareness on early psychosis, and to research on the optimal intervention model and duration for early psychosis in a 4-year randomized controlled trial (RCT). Participants were randomly assigned to receive either 4 years of EI service, 2 years of EI service, or 4 years of standard care. Their symptoms, neurocognitive functions, psychosocial well-being and health economics were regularly assessed. RESULTS: To date, 360 patients were recruited into the RCT, and 740 patients were recruited in a 2-year naturalistic study. Prospective, longitudinal follow-up assessments of these patients are still underway. CONCLUSIONS: JCEP is the first EI project to provide adult early psychosis service in Chinese population. Future data would help to address the optimal duration of EI and its cost-effectiveness. This would also assist regional and international mental health development. PMID:23445124

Hui, Christy L M; Chang, Wing C; Chan, Sherry K W; Lee, Edwin H M; Tam, Wendy W Y; Lai, Dik C; Wong, Gloria H Y; Tang, Jennifer Y M; Li, Frendi W S; Leung, Kwok F; McGhee, Sarah M; Sham, Pak C; Chen, Eric Y H

2013-02-28

291

Clinical parameters predicting failure of empirical antibacterial therapy in early onset neonatal sepsis, identified by classification and regression tree analysis  

Microsoft Academic Search

BACKGROUND: About 10-20% of neonates with suspected or proven early onset sepsis (EOS) fail on the empiric antibiotic regimen of ampicillin or penicillin and gentamicin. We aimed to identify clinical and laboratory markers associated with empiric antibiotic treatment failure in neonates with suspected EOS. METHODS: Maternal and early neonatal characteristics predicting failure of empiric antibiotic treatment were identified by univariate

Tuuli Metsvaht; Heti Pisarev; Mari-Liis Ilmoja; Ülle Parm; Lea Maipuu; Mirjam Merila; Piia Müürsepp; Irja Lutsar

2009-01-01

292

Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke  

PubMed Central

We describe an autosomal recessive condition characterized with cerebral vasculopathy and early onset of stroke in 14 individuals in Old Order Amish. The phenotype of the condition was highly heterogeneous, ranging from severe developmental disability to normal schooling. Cerebral vasculopathy was a major hallmark of the condition with a common theme of multifocal stenoses and aneurysms in large arteries, accompanied by chronic ischemic changes, moyamoya morphology, and evidence of prior acute infarction and hemorrhage. Early signs of the disease included mild intrauterine growth restriction, infantile hypotonia, and irritability, followed by failure to thrive and short stature. Acrocyanosis, Raynaud’s phenomenon, chilblain lesions, low-pitch hoarse voice, glaucoma, migraine headache, and arthritis were frequently observed. The early onset or recurrence of strokes secondary to cerebral vasculopathy seems to always be associated with poor outcomes. The elevated erythrocyte sedimentation rate (ESR), IgG, neopterin, and TNF-? found in these patients suggested an immune disorder. Through genomewide homozygosity mapping, we localized the disease gene to chromosome (Chr) 20q11.22-q12. Candidate gene sequencing identified a homozygous mutation, c.1411–2A > G, in the SAMHD1 gene, being associated with this condition. The mutation appeared at the splice-acceptor site of intron 12, resulted in the skipping of exon 13, and gave rise to an aberrant protein with in-frame deletion of 31 amino acids. Immunoblotting analysis showed lack of mutant SAMHD1 protein expression in affected cell lines. The function of SAMHD1 remains unclear, but the inflammatory vasculopathies of the brain found in the patients with SAMHD1 mutation indicate its important roles in immunoregulation and cerebral vascular hemeostasis.

Xin, Baozhong; Jones, Stephen; Puffenberger, Erik G.; Hinze, Claas; Bright, Alicia; Tan, Haiyan; Zhou, Aimin; Wu, Guiyun; Vargus-Adams, Jilda; Agamanolis, Dimitris; Wang, Heng

2011-01-01

293

Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke.  

PubMed

We describe an autosomal recessive condition characterized with cerebral vasculopathy and early onset of stroke in 14 individuals in Old Order Amish. The phenotype of the condition was highly heterogeneous, ranging from severe developmental disability to normal schooling. Cerebral vasculopathy was a major hallmark of the condition with a common theme of multifocal stenoses and aneurysms in large arteries, accompanied by chronic ischemic changes, moyamoya morphology, and evidence of prior acute infarction and hemorrhage. Early signs of the disease included mild intrauterine growth restriction, infantile hypotonia, and irritability, followed by failure to thrive and short stature. Acrocyanosis, Raynaud's phenomenon, chilblain lesions, low-pitch hoarse voice, glaucoma, migraine headache, and arthritis were frequently observed. The early onset or recurrence of strokes secondary to cerebral vasculopathy seems to always be associated with poor outcomes. The elevated erythrocyte sedimentation rate (ESR), IgG, neopterin, and TNF-? found in these patients suggested an immune disorder. Through genomewide homozygosity mapping, we localized the disease gene to chromosome (Chr) 20q11.22-q12. Candidate gene sequencing identified a homozygous mutation, c.1411-2A > G, in the SAMHD1 gene, being associated with this condition. The mutation appeared at the splice-acceptor site of intron 12, resulted in the skipping of exon 13, and gave rise to an aberrant protein with in-frame deletion of 31 amino acids. Immunoblotting analysis showed lack of mutant SAMHD1 protein expression in affected cell lines. The function of SAMHD1 remains unclear, but the inflammatory vasculopathies of the brain found in the patients with SAMHD1 mutation indicate its important roles in immunoregulation and cerebral vascular hemeostasis. PMID:21402907

Xin, Baozhong; Jones, Stephen; Puffenberger, Erik G; Hinze, Claas; Bright, Alicia; Tan, Haiyan; Zhou, Aimin; Wu, Guiyun; Vargus-Adams, Jilda; Agamanolis, Dimitris; Wang, Heng

2011-03-14

294

Gray matter alterations in schizophrenia high-risk youth and early-onset schizophrenia: a review of structural MRI findings.  

PubMed

This article reviews the literature on structural magnetic resonance imaging findings in pediatric and young adult populations at clinical or genetic high-risk for schizophrenia and early-onset schizophrenia. The implications of this research are discussed for understanding the pathophysiology of schizophrenia and for early intervention strategies. The evidence linking brain structural changes in prepsychosis development and early-onset schizophrenia with disruptions of normal neurodevelopmental processes during childhood or adolescence is described. Future directions are outlined for research to address knowledge gaps regarding the neurobiological basis of brain structural abnormalities in schizophrenia and to improve the usefulness of these abnormalities for preventative interventions. PMID:24012081

Brent, Benjamin K; Thermenos, Heidi W; Keshavan, Matcheri S; Seidman, Larry J

2013-07-23

295

The street children of Manila are affected by early-in-life periodontal infection: description of a treatment modality: sea salt.  

PubMed

Thousands of street children of Manila are affected by early-in-life oral infection. The aim of the present investigation was to evaluate the effectiveness of a sea-salt mouthrinse solution in street children of Manila affected by mild to severe forms of periodontal disease. These children were all in need of special protection: abandoned, abused, exploited, neglected, orphaned, poor. During 3 oral-health missions in 2003, 2004 and 2005, 617 abandoned children (5 to 13 year-old), received oral examination at a non-sectarian child-caring institution in Metro Manila (Virlanie Foundation) by calibrated examiners. A treatment based on what could be done was proposed: 1. Teaching of a precise tooth brushing technique with sea-salt, controlled and reinforced every two days for one week by calibrated health educators, 2. The application of sea-salt water mouthrinse (2.5 gram in 20 ml). Periodontal measurements were repeated at the end of each mission. All children returned to child-caring institution for the followup examinations. In 2003, 10 male and 11 female (n=21) were diagnosed with aggressive periodontitis. In 2009 and 2010, none was affected by aggressive periodontitis. For all patients, the gingival index decreased from 1.08 at the first mission to 1.04 at the end of the second mission and 0.98 at the end of the third mission. The periodontal index decreased from 1.33 at the first mission to 0.98 at the second mission and 0.92 at the last mission. The present investigation confirms that prevention and early diagnosis can result in success with minimum cost. The provided oral health program empowered street children in the most desperate circumstances to be educated and become self-reliant, independent, and responsible. We propose here an antimicrobial approach which has a high degree of efficacy and tolerability, and can be implemented in virtually all parts of the world using low-cost resources. PMID:23697295

Michel, J F; Michel, M G; Nadan, J; Nowzari, H

2013-01-01

296

A qualitative interview study: patient accounts of medication use in early rheumatoid arthritis from symptom onset to early postdiagnosis  

PubMed Central

Objective To examine accounts of medication use in participants with early rheumatoid arthritis (RA) from symptom onset to early postdiagnosis. Design Qualitative study with in-depth, personal interviews. Participants 37 women and one man, aged 30–70s, with a diagnosis of RA <12?months. Main outcome measure Participants’ experiences and feelings of medication use in early RA. Setting British Columbia, Canada. Results Medications were central to how people managed symptoms and disease. Two main themes were identified, showing that optimum medication use was hampered, and how this related to delayed diagnosis and effective care. The first theme, ‘paradox of prediagnosis reliance on over the counter (OTC) medications’, describes how people's self-management with OTC medications was ‘effective’. Participants relied extensively on OTC medications for pain relief and to maintain ‘normal life’. However, as this contributed to delayed medical consultation, diagnosis and effective treatment, OTC medication was also potentially detrimental to disease outcome. The second theme, ‘ambivalence around prescription medications post diagnosis’, describes how adherence was hindered by patient beliefs, priorities and ambivalence towards medications. Conclusions This study highlights how people use medications in early RA and contributes to a better understanding of medication use that may transfer to other conditions. Given the drive towards active self-management in healthcare and patients’ ambivalence about using strong medications, an in-depth understanding of how these combined factors impact patient experiences will help healthcare providers to support effective medication practices. The reported extensive reliance on OTC medications may speak to a care gap needing further investigation in the context of health behaviours and outcomes of patient self-management.

Townsend, Anne; Backman, Catherine L; Adam, Paul; Li, Linda C

2013-01-01

297

Mechanisms of late-onset cognitive decline after early-life stress.  

PubMed

Progressive cognitive deficits that emerge with aging are a result of complex interactions of genetic and environmental factors. Whereas much has been learned about the genetic underpinnings of these disorders, the nature of "acquired" contributing factors, and the mechanisms by which they promote progressive learning and memory dysfunction, remain largely unknown. Here, we demonstrate that a period of early-life "psychological" stress causes late-onset, selective deterioration of both complex behavior and synaptic plasticity: two forms of memory involving the hippocampus, were severely but selectively impaired in middle-aged, but not young adult, rats exposed to fragmented maternal care during the early postnatal period. At the cellular level, disturbances to hippocampal long-term potentiation paralleled the behavioral changes and were accompanied by dendritic atrophy and mossy fiber expansion. These findings constitute the first evidence that a short period of stress early in life can lead to delayed, progressive impairments of synaptic and behavioral measures of hippocampal function, with potential implications to the basis of age-related cognitive disorders in humans. PMID:16221841

Brunson, Kristen L; Kramár, Enikö; Lin, Bin; Chen, Yuncai; Colgin, Laura Lee; Yanagihara, Theodore K; Lynch, Gary; Baram, Tallie Z

2005-10-12

298

116 cases of neonatal early-onset or late-onset sepsis: A single center retrospective analysis on pathogenic bacteria species distribution and antimicrobial susceptibility.  

PubMed

Purpose: The aim of this study was to explore the risk factors, clinical symptoms, hematological parameters, causative pathogen and antibiotic susceptibility of neonatal sepsis in a Chinese NICU. Methods: A retrospective survey was conducted on 116 cases of neonatal sepsis in NICU at the Maternal and Child Care Hospital in Shenzhen, China from January 2009 to December 2012. Patients were divided into early-onset sepsis (EOS) and late-onset sepsis groups according to their positive blood culture occurrence time (in the first 7 days of life or later). Results: 116 cases of neonatal sepsis were divided into early-onset sepsis (EOS) group and late-onset sepsis (LOS) group. There was significant difference for risk factors like peripherally insertion central catheter (PICC) between two groups. The clinical symptoms or laboratory results such as chilly periphery, fever, jaundice, platelet and hemoglobin also had between-group differences. The most common responsible pathogenic bacteria species present in EOS group was Coagulase-negative Staphylococcus (CoNS). Among those CoNS Staphylococcus epidermidis provided 24.24%, and Staphylococcus haemolyticus contributed 13.63%. Both were sensitive to vancomycin, teicoplanin and linezolid. The most common responsible pathogenic bacteria species in LOS group was Staphylococcus epidermidis (16%). Antimicrobial susceptibility in EOS group is higher than in LOS group. Conclusion: PICC is a bigger risk factor for neonatal late-onset sepsis. Staphylococcus epidermidis was the leading pathogen present in neonatal sepsis in a tertiary maternal & child care hospital in southern China. Vancomycin, teicoplanin and linezolid may be the best choice to management of neonatal sepsis. PMID:24040479

Li, Zhiling; Xiao, Zhijun; Li, Zhiping; Zhong, Qiao; Zhang, Ye; Xu, Feng

2013-09-01

299

Longitudinal changes of cortical thickness in early- versus late-onset Alzheimer's disease.  

PubMed

Early-onset Alzheimer's disease (EOAD) has been shown to progress more rapidly than late-onset Alzheimer's disease (LOAD). However, no studies have compared the topography of brain volume reduction over time. The purpose of this 3-year longitudinal study was to compare EOAD and LOAD in terms of their rates of decline in cognitive testing and topography of cortical thinning. We prospectively recruited 36 patients with AD (14 EOAD and 22 LOAD) and 14 normal controls. All subjects were assessed with neuropsychological tests and with magnetic resonance imaging at baseline, Year 1, and Year 3. The EOAD group showed more rapid decline than the LOAD group in attention, language, and frontal-executive tests. The EOAD group also showed more rapid cortical thinning in widespread association cortices. In contrast, the LOAD group presented more rapid cortical thinning than the EOAD group only in the left parahippocampal gyrus. Our study suggests that patients with EOAD show more rapid cortical atrophy than patients with LOAD, which accounts for faster cognitive decline on neuropsychological tests. PMID:23391426

Cho, Hanna; Jeon, Seun; Kang, Sue J; Lee, Jong-Min; Lee, Jae-Hong; Kim, Geon Ha; Shin, Ji Soo; Kim, Chi Hun; Noh, Young; Im, Kiho; Kim, Sung Tae; Chin, Juhee; Seo, Sang Won; Na, Duk L

2013-02-05

300

Using bacterial biomarkers to identify early indicators of cystic fibrosis pulmonary exacerbation onset.  

PubMed

Acute periods of pulmonary exacerbation are the single most important cause of morbidity in cystic fibrosis patients, and may be associated with a loss of lung function. Intervening prior to the onset of a substantially increased inflammatory response may limit the associated damage to the airways. While a number of biomarker assays based on inflammatory markers have been developed, providing useful and important measures of disease during these periods, such factors are typically only elevated once the process of exacerbation has been initiated. Identifying biomarkers that can predict the onset of pulmonary exacerbation at an early stage would provide an opportunity to intervene before the establishment of a substantial immune response, with major implications for the advancement of cystic fibrosis care. The precise triggers of pulmonary exacerbation remain to be determined; however, the majority of models relate to the activity of microbes present in the patient's lower airways of cystic fibrosis. Advances in diagnostic microbiology now allow for the examination of these complex systems at a level likely to identify factors on which biomarker assays can be based. In this article, we discuss key considerations in the design and testing of assays that could predict pulmonary exacerbations. PMID:21405970

Rogers, Geraint B; Hoffman, Lucas R; Johnson, Matt W; Mayer-Hamblett, Nicole; Schwarze, Jürgen; Carroll, Mary P; Bruce, Kenneth D

2011-03-01

301

Structured regions of ?-synuclein fibrils include the early-onset Parkinson's disease mutation sites  

PubMed Central

?-Synuclein (AS) fibrils are the major component of Lewy bodies, the pathological hallmark of Parkinson’s disease (PD). Here, we use results from an extensive investigation employing solid-state NMR to present a detailed structural characterization and conformational dynamics quantification of full-length AS fibrils. Our results show that the core extends with a repeated structural motif. This result disagrees with the previously proposed fold of AS fibrils obtained with limited solid-state NMR data. Additionally, our results demonstrate that the three single point mutations associated with early-onset PD—A30P, E46K and A53T—are located in structured regions. We find that E46K and A53T mutations, located in rigid ?-strands of the wild-type fibrils, are associated with major and minor structural perturbations, respectively.

Comellas, Gemma; Lemkau, Luisel R.; Nieuwkoop, Andrew J.; Kloepper, Kathryn D.; Ladror, Daniel T.; Ebisu, Reika; Woods, Wendy S.; Lipton, Andrew S.; George, Julia M.; Rienstra, Chad M.

2011-01-01

302

Mortalin mutations are not a frequent cause of early-onset Parkinson disease.  

PubMed

Dysfunctional mitochondria and the mitochondrial chaperone mortalin (HSPA9, GRP75) have been implicated in the pathogenesis of Parkinson disease (PD). We screened 139 early-onset PD (EOPD) patients for mutations in mortalin revealing one missense change (p.L358P) that was absent in 279 control individuals. We also found one additional missense variant among the controls (p.T333K). Although both missense changes were predicted to be disease causing, we detected no differences in subcellular localization, mitochondrial morphology, or respiratory function between wild-type and mutant mortalin. These findings suggest that variants in mortalin (1) are not a major cause of EOPD; (2) occur in patients and controls; and (3) do not lead to functional impairment of mitochondria. PMID:23831374

Freimann, Karen; Zschiedrich, Katja; Brüggemann, Norbert; Grünewald, Anne; Pawlack, Heike; Hagenah, Johann; Lohmann, Katja; Klein, Christine; Westenberger, Ana

2013-07-05

303

WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta.  

PubMed

This report identifies human skeletal diseases associated with mutations in WNT1. In 10 family members with dominantly inherited, early-onset osteoporosis, we identified a heterozygous missense mutation in WNT1, c.652T?G (p.Cys218Gly). In a separate family with 2 siblings affected by recessive osteogenesis imperfecta, we identified a homozygous nonsense mutation, c.884C?A, p.Ser295*. In vitro, aberrant forms of the WNT1 protein showed impaired capacity to induce canonical WNT signaling, their target genes, and mineralization. In mice, Wnt1 was clearly expressed in bone marrow, especially in B-cell lineage and hematopoietic progenitors; lineage tracing identified the expression of the gene in a subset of osteocytes, suggesting the presence of altered cross-talk in WNT signaling between the hematopoietic and osteoblastic lineage cells in these diseases. PMID:23656646

Laine, Christine M; Joeng, Kyu Sang; Campeau, Philippe M; Kiviranta, Riku; Tarkkonen, Kati; Grover, Monica; Lu, James T; Pekkinen, Minna; Wessman, Maija; Heino, Terhi J; Nieminen-Pihala, Vappu; Aronen, Mira; Laine, Tero; Kröger, Heikki; Cole, William G; Lehesjoki, Anna-Elina; Nevarez, Lisette; Krakow, Deborah; Curry, Cynthia J R; Cohn, Daniel H; Gibbs, Richard A; Lee, Brendan H; Mäkitie, Outi

2013-05-01

304

Time perspective and early-onset substance use: a model based on stress-coping theory.  

PubMed

This research tested the relation of time perspective to early-onset substance use (tobacco, alcohol, and marijuana) with a sample of 454 elementary school students with a mean age of 11.8 years. An adaptation of the Zimbardo Time Perspective Inventory (P. G. Zimbardo & J. N. Boyd, 1999) was administered with measures derived from stress-coping theory. Independent effects showed future orientation inversely related to substance use and present orientation positively related to substance use. Structural modeling analysis indicated that the relation of time perspective measures to substance use was indirect, mediated through behavioral coping and anger coping. Proximal factors for substance use were negative affect, peer substance use, and resistance efficacy. Results are discussed with respect to epigenetic models and the role of executive functions in self-control ability. PMID:11419227

Wills, T A; Sandy, J M; Yaeger, A M

2001-06-01

305

Diagnosing early onset dementia and then what? A frustrating system of aftercare resources.  

PubMed

Recent studies indicate that the prevalence of early onset dementia (EOD) is more common than it was once presumed. As such, and considering the substantial challenges EOD presents to the patient, caregivers, and health care providers, this study sought to investigate the mechanism of care delivered to these patients. A medical record chart review was conducted for 85 patients attending a memory disorder unit who initially presented to rule out EOD as a working diagnosis. The results suggest that while the majority of these patients received an extensive work-up and were heavily medicated, they remained at home, where they lacked adequate age-related services and could not be placed, despite the crippling caregiver burden. This manuscript is a platform to discuss our current system limitations in the care of these patients with an eye on new opportunities for this challenging group. PMID:22287850

Chemali, Z; Schamber, S; Tarbi, Ec; Acar, D; Avila-Urizar, M

2012-01-19

306

CoMorbidity between Early-Onset Leukemia and Type 1 Diabetes – Suggestive of a Shared Viral Etiology?  

Microsoft Academic Search

BackgroundAcute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML) are common early-onset malignancies. Their causes are largely unknown but infectious etiology has been implicated. Type 1 diabetes (T1D) is an autoimmune disease for which infectious triggers of disease onset have been sought and increasing pointing to enteroviruses. Based on our previous results on co-morbidity between leukemia and T1D, we updated

Kari Hemminki; Richard Houlston; Jan Sundquist; Kristina Sundquist; Xiaochen Shu

2012-01-01

307

Epidemiology of early-onset dementia: a review of the literature  

PubMed Central

Presenile Dementia or Early Onset Dementia (EOD) is a public health problem, it differs from Senile Dementia, and encloses a significant number of cases; nevertheless, it is still poorly understood and underdiagnosed. This study aims to review the prevalence and etiology of EOD, comparing EOD with Senile Dementia, as well as to show the main causes of EOD and their prevalence in population and non-population based studies. The computer-supported search used the following databases: Pubmed/Medline, ISI Web of Knowledge and Scielo. The search terms were alcohol-associated dementia, Alzheimer’s disease, dementia, Creutzfeldt-jakob disease, dementia with lewy bodies, early onset dementia, frontotemporal lobar degeneration, Huntington’s disease, mixed dementia, neurodegenerative disorders, Parkinson’s disease dementia, presenile dementia, traumatic brain injury, vascular dementia. Only papers published in English and conducted from 1985 up to 2012 were preferentially reviewed. Neurodegenerative diseases are the most common etiologies seen in EOD. Among the general population, the prevalence of EOD was found to range between 0 to 700 per 100.000 habitants in groups of 25-64 years old, with an increasing incidence with age. The progression of EOD was found to range between 8.3 to 22.8 new cases per 100.000 in those aged under 65 years. Alzheimer's disease (AD) is the major etiology, followed by Vascular Dementia (VaD) and Frontotemporal Lobar Degeneration (FTLD). A larger number of epidemiological studies to elucidate how environmental issues contribute to EOD are necessary, thus, we can collaborate in the planning and prevention of services toward dementia patients.

Vieira, Renata Teles; Caixeta, Leonardo; Machado, Sergio; Silva, Adriana Cardoso; Nardi, Antonio Egidio; Arias-Carrion, Oscar; Carta, Mauro Giovanni

2013-01-01

308

Prolonged QT interval at onset of acute myocardial infarction in predicting early phase ventricular tachycardia  

SciTech Connect

The prospectively assessed time course of changes in ventricular repolarization during acute myocardial infarction (AMI) is reported in 32 patients admitted 2.0 +/- 1.8 (SD) hours after AMI onset. The initial corrected QT interval (QTc) upon hospitalization was longer in the 14 patients developing ventricular tachycardia (VT) within the first 48 hours as compared to QTc in the eight patients with frequent ventricular premature beats (VPBs) and to QTc in the 10 patients with infrequent VPBs. By the fifth day after AMI onset, the QTc shortened significantly only in the VT group, suggesting a greater initial abnormality of repolarization in these patients. All 32 patients had coronary angiography, radionuclide ventriculography, and myocardial perfusion scintigraphy before hospital discharge. Significant discriminating factors related to early phase VT in AMI included initially longer QT and QTc intervals, faster heart rate, higher peak serum levels of creatine kinase, acute anterior infarction, angiographically documented proximal stenosis of the left anterior descending coronary artery, and scintigraphic evidence of hypoperfusion of the interventricular septum. Prior infarction, angina pectoris, hypertension, multivessel coronary artery disease, and depressed left ventricular ejection fraction did not provide discrimination among the three different ventricular arrhythmia AMI groups. Researchers conclude that (1) the QT interval is frequently prolonged early in AMI, (2) the initial transiently prolonged ventricular repolarization facilitates and predicts complex ventricular tachyarrhythmias within the first 48 hours of AMI, (3) jeopardized blood supply to the interventricular septum frequently coexists, and (4) therapeutic enhancement of rapid recovery of the ventricular repolarization process merits investigation for prevention of VT in AMI.

Taylor, G.J.; Crampton, R.S.; Gibson, R.S.; Stebbins, P.T.; Waldman, M.T.; Beller, G.A.

1981-07-01

309

Mortality by race among low-income adults with early-onset insulin-treated diabetes.  

PubMed

OBJECTIVE To determine if long-term mortality rates in early-onset insulin-treated diabetes differ by race among adults of similar socioeconomic status. RESEARCH DESIGN AND METHODS A total of 391 (299 African Americans, 92 whites) mostly low-income adults 40-79 years of age with insulin-treated diabetes diagnosed before 30 years of age were recruited from community health centers in the southeast U.S. Cox models were used to estimate hazard ratios (HRs) of all-cause mortality among African Americans compared with whites. Additionally, standardized mortality ratios (SMRs) were used to compare the mortality experience of the individuals with diabetes with both national and general community health center sex- and race-specific population norms. RESULTS Mean age at diabetes diagnosis and cohort entry, respectively, was 21 and 50 years in African Americans and 19 and 51 years in whites. During an average of 6.7 years of follow-up, 29% of African Americans and 35% of whites died. In multivariable analysis, no significant mortality difference was observed among African Americans compared with whites (HR 0.83 [95% CI 0.53-1.30]; P = 0.51). Compared with the race-specific U.S. general population, SMRs for those with diabetes were 5.7 in African Americans and 11.7 in whites. However, when compared with the same source population (i.e., the community health center population), SMRs were 3.5 and 3.7 in African Americans and whites, respectively. CONCLUSIONS Elevated mortality persists in men and women with long duration of early-onset insulin-treated diabetes, but given survival to 40 years of age and similarly low economic status and access to health care, our data do not suggest a racial disparity in mortality. PMID:23835689

Conway, Baqiyyah Nilija; Elasy, Thomas Anais; May, Michael E; Blot, William James

2013-07-08

310

Epidemiology of early-onset dementia: a review of the literature.  

PubMed

Presenile Dementia or Early Onset Dementia (EOD) is a public health problem, it differs from Senile Dementia, and encloses a significant number of cases; nevertheless, it is still poorly understood and underdiagnosed. This study aims to review the prevalence and etiology of EOD, comparing EOD with Senile Dementia, as well as to show the main causes of EOD and their prevalence in population and non-population based studies. The computer-supported search used the following databases: Pubmed/Medline, ISI Web of Knowledge and Scielo. The search terms were alcohol-associated dementia, Alzheimer's disease, dementia, Creutzfeldt-jakob disease, dementia with lewy bodies, early onset dementia, frontotemporal lobar degeneration, Huntington's disease, mixed dementia, neurodegenerative disorders, Parkinson's disease dementia, presenile dementia, traumatic brain injury, vascular dementia. Only papers published in English and conducted from 1985 up to 2012 were preferentially reviewed. Neurodegenerative diseases are the most common etiologies seen in EOD. Among the general population, the prevalence of EOD was found to range between 0 to 700 per 100.000 habitants in groups of 25-64 years old, with an increasing incidence with age. The progression of EOD was found to range between 8.3 to 22.8 new cases per 100.000 in those aged under 65 years. Alzheimer's disease (AD) is the major etiology, followed by Vascular Dementia (VaD) and Frontotemporal Lobar Degeneration (FTLD). A larger number of epidemiological studies to elucidate how environmental issues contribute to EOD are necessary, thus, we can collaborate in the planning and prevention of services toward dementia patients. PMID:23878613

Vieira, Renata Teles; Caixeta, Leonardo; Machado, Sergio; Silva, Adriana Cardoso; Nardi, Antonio Egidio; Arias-Carrión, Oscar; Carta, Mauro Giovanni

2013-06-14

311

Early-Onset and Robust Amyloid Pathology in a New Homozygous Mouse Model of Alzheimer's Disease  

PubMed Central

Background Transgenic mice expressing mutated amyloid precursor protein (APP) and presenilin (PS)-1 or -2 have been successfully used to model cerebral ?-amyloidosis, one of the characteristic hallmarks of Alzheimer's disease (AD) pathology. However, the use of many transgenic lines is limited by premature death, low breeding efficiencies and late onset and high inter-animal variability of the pathology, creating a need for improved animal models. Here we describe the detailed characterization of a new homozygous double-transgenic mouse line that addresses most of these issues. Methodology/Principal Findings The transgenic mouse line (ARTE10) was generated by co-integration of two transgenes carrying the K670N/M671L mutated amyloid precursor protein (APPswe) and the M146V mutated presenilin 1 (PS1) both under control of a neuron-specific promoter. Mice, hemi- as well as homozygous for both transgenes, are viable and fertile with good breeding capabilities and a low rate of premature death. They develop robust AD-like cerebral ?-amyloid plaque pathology with glial inflammation, signs of neuritic dystrophy and cerebral amyloid angiopathy. Using our novel image analysis algorithm for semi-automatic quantification of plaque burden, we demonstrate an early onset and progressive plaque deposition starting at 3 months of age in homozygous mice with low inter-animal variability and 100%-penetrance of the phenotype. The plaques are readily detected in vivo by PiB, the standard human PET tracer for AD. In addition, ARTE10 mice display early loss of synaptic markers and age-related cognitive deficits. By applying a ?-secretase inhibitor we show a dose dependent reduction of soluble amyloid ? levels in the brain. Conclusions ARTE10 mice develop a cerebral ?-amyloidosis closely resembling the ?-amyloid-related aspects of human AD neuropathology. Unifying several advantages of previous transgenic models, this line particularly qualifies for the use in target validation and for evaluating potential diagnostic or therapeutic agents targeting the amyloid pathology of AD.

Willuweit, Antje; Velden, Joachim; Godemann, Robert; Manook, Andre; Jetzek, Fritz; Tintrup, Hartmut; Kauselmann, Gunther; Zevnik, Branko; Henriksen, Gjermund; Drzezga, Alexander; Pohlner, Johannes; Schoor, Michael; Kemp, John A.; von der Kammer, Heinz

2009-01-01

312

Mapping Callosal Morphology in Early and Late-Onset Elderly Depression: An Index of Distinct Changes in Cortical Connectivity  

Microsoft Academic Search

There is some evidence of corpus callosum abnormalities in elderly depression, but it is not known whether these deficits are region-specific or differ based on age at onset of depression. Twenty-four patients with early-onset depression (mean age=68.00, SD±5.83), 22 patients with late-onset depression (mean age=74.50, SD±8.09) and 34 elderly control subjects (mean age=72.38; SD±6.93) were studied. Using 3D MRI data,

Martina Ballmaier; Anand Kumar; Virginia Elderkin-Thompson; Katherine L Narr; Eileen Luders; Paul M Thompson; Cornelius Hojatkashani; Daniel Pham; Andreas Heinz; Arthur W Toga

2008-01-01

313

The prevention of early-onset neonatal group B streptococcal disease.  

PubMed

Objective: To review the evidence in the literature and to provide recommendations on the management of pregnant women in labour for the prevention of early-onset neonatal group B streptococcal disease. The key revisions in this updated guideline include changed recommendations for regimens for antibiotic prophylaxis, susceptibility testing, and management of women with pre-labour rupture of membranes. Outcomes: Maternal outcomes evaluated included exposure to antibiotics in pregnancy and labour and complications related to antibiotic use. Neonatal outcomes of rates of early-onset group B streptococcal infections are evaluated. Evidence: Published literature was retrieved through searches of MEDLINE, CINAHL, and The Cochrane Library from January 1980 to July 2012 using appropriate controlled vocabulary and key words (group B streptococcus, antibiotic therapy, infection, prevention). Results were restricted to systematic reviews, randomized control trials/controlled clinical trials, and observational studies. There were no date or language restrictions. Searches were updated on a regular basis and incorporated in the guideline to May 2013. Grey (unpublished) literature was identified through searching the websites of health technology assessment and health technology-related agencies, clinical practice guideline collections, clinical trial registries, and national and international medical specialty societies. Values: The quality of evidence in this document was rated using the criteria described in the Report of the Canadian Task Force on Preventive Health Care (Table 1). Benefits, Harms, and Costs: The recommendations in this guideline are designed to help clinicians identify and manage pregnancies at risk for neonatal group B streptococcal disease to optimize maternal and perinatal outcomes. No cost-benefit analysis is provided. Summary Statement There is good evidence based on randomized control trial data that in women with pre-labour rupture of membranes at term who are colonized with group B streptococcus, rates of neonatal infection are reduced with induction of labour. (I) There is no evidence to support safe neonatal outcomes with expectant management in this clinical situation. Recommendations 1. Offer all women screening for colonization with group B streptococcus at 35 to 37 weeks' gestation with culture taken from one swab first to the vagina and then to the rectum (through the anal sphincter). (II-1A) This includes women with planned Caesarean delivery because of their risk of labour or ruptured membranes earlier than the scheduled Caesarean delivery. (II-2B) 2. Because of the association of heavy colonization with early onset neonatal disease, provide intravenous antibiotic prophylaxis for group B streptococcus at the onset of labour or rupture of the membranes to: • any woman positive for group B streptococcus by vaginal/rectal swab culture screening done at 35 to 37 weeks' gestation (II-2B); • any woman with an infant previously infected with group B streptococcus (II-3B); • any woman with documented group B streptococcus bacteriuria (regardless of level of colony-forming units) in the current pregnancy. (II-2A) 3. Manage all women who are < 37 weeks' gestation and in labour or with rupture of membranes with intravenous group B streptococcus antibiotic prophylaxis for a minimum of 48 hours, unless there has been a negative vaginal/rectal swab culture or rapid nucleic acid-based test within the previous 5 weeks. (II-3A) 4. Treat all women with intrapartum fever and signs of chorioamnionitis with broad spectrum intravenous antibiotics targeting chorioamnionitis and including coverage for group B streptococcus, regardless of group B streptococcus status and gestational age. (II-2A) 5. Request antibiotic susceptibility testing on group B streptococcus-positive urine and vaginal/rectal swab cultures in women who are thought to have a significant risk of anaphylaxis from penicillin. (II-1A) 6. If a woman with pre-labour rupture of membranes at ? 37 weeks' gestation is positive for group B streptococ

Money, Deborah; Allen, Victoria M; Yudin, Mark H; Allen, Victoria M; Bouchard, Celine; Boucher, Marc; Caddy, Sheila; Castillo, Eliana; Money, Deborah; Murphy, Kellie E; Ogilvie, Gina; Paquet, Caroline; Senikas, Vyta; van Schalkwyk, Julie

2013-10-01

314

Vasoactive agents for the prediction of early- and late-onset preeclampsia in a high-risk cohort  

PubMed Central

Background To evaluate the soluble fms-like tyrosine kinase-1 (sFlt-1), placental growth factor (PlGF), and sFlt-1/PlGF ratio for the prediction of early- and late-onset preeclampsia in a high-risk cohort. Methods We studied serial serum samples collected prospectively at 12?+?0 - 14?+?0, 18?+?0 - 20?+?0, and 26?+?0 - 28?+?0 weeks?+?days of gestation in 6 women who developed early-onset preeclampsia (before 34 weeks of gestation) and in 21 women who developed late-onset preeclampsia (after 34 weeks of gestation) with automated ElecSys 2010 immunoanalyzer (Roche Diagnostics, Germany). Twenty-six high-risk women and 53 women without risk factors with normal pregnancies served as controls. Results Serum PlGF concentrations were lower at 18?+?0 to 20?+?0, and 26?+?0 to 28?+?0 weeks of gestation in women who developed early-onset preeclampsia compared to women who developed late-onset preeclampsia and to controls (p?early-onset preeclampsia (AUC 100.0%, p?=?0.0007, 95% CI 100–100). Amongst women with late-onset preeclampsia, those who developed severe form of the disease (N?=?8) had significantly higher serum sFlt-1 concentrations at all three timepoints (p?=?0.004, p?=?0.006, and p?=?0.003, respectively) compared to women with non-severe form (N?=?13). Conclusions Low serum PlGF concentration predicts early-onset preeclampsia from the second trimester and elevated serum sFlt-1/PlGF ratio from 26 to 28 weeks of gestation. Elevated serum sFlt-1 concentration in the first trimester in women who later develop late-onset, severe preeclampsia may suggest different etiology compared to the late-onset non-severe form of the disease.

2013-01-01

315

Human Papillomavirus Type 31b Infection of Human Keratinocytes and the Onset of Early Transcription  

PubMed Central

Human papillomaviruses (HPVs) cause a number of human tumors and malignancies, including cervical cancers. Epithelial differentiation is required for the complete HPV life cycle and can be achieved using the organotypic (raft) culture system. The CIN-612 9E cell line maintains episomal copies of HPV type 31b (HPV31b), an HPV type associated with cervical cancers. When grown in the raft system, CIN-612 9E cells form a differentiated epithelium such that infectious virions can be synthesized. Many aspects of the later stages of the HPV31b life cycle have been investigated in CIN-612 9E raft tissues. We used a biologically contained homogenization system for efficient virion extraction from raft epithelial tissues. Purified HPV31b virions were used to infect low-passage-number human foreskin keratinocytes and a variety of epithelial cell lines. Newly synthesized, spliced HPV31b transcripts were detected by reverse transcription and PCR (RT-PCR) following HPV31b infection. HPV31b infection was most efficient and reproducible in HaCaT cells. The onset of viral transcription following infection was also investigated using RT-PCR techniques. Spliced E1?I,E2 RNAs were present as early as 4 h postinfection (p.i.), whereas the other major viral transcripts were detected by 8 to 10 h p.i. Furthermore, we characterized the structures and temporal expression of seven novel spliced early transcripts expressed following infection.

Ozbun, Michelle A.

2002-01-01

316

Quantification of Maternal Serum Cell-Free Fetal DNA in Early-Onset Preeclampsia  

PubMed Central

The aim of this study was to determine whether the increased serum cell-free fetal DNA (cffDNA) level of gravidas developed into early-onset preeclampsia (EOPE) subsequently in the early second trimesters is related to prenatal screening markers. Serum was collected from 1011 gravidas. The level of cffDNA and prenatal screening markers were analyzed in 20 cases with EOPE and 20 controls. All fetuses were male. The maternal serum cffDNA level was assessed by amplification of the Y chromosome specific gene. Correlations between the variables were examined. (Logged) cffDNA in EOPE (median, 3.08; interquartile range, 2.93–3.68) was higher than controls (median, 1.79; interquartile range, 1.46–2.53). The increased level of (logged) cffDNA was correlated significantly with the increased human chorionic gonadotropin (HCG) level (r = 0.628, p < 0.001). Significant reciprocal correlations between cffDNA and babies’ birth weight as well as gestation weeks at delivery were noted (r = ?0.516, p = 0.001; r = ?0.623, p < 0.001, respectively). The sensitivity and specificity of cffDNA to discriminate between the EOPE cases and the controls were 90% and 85%, respectively. CffDNA is a potential marker for EOPE, which had a significant reciprocal correlation with babies’ birth weight and gestation weeks at delivery. Moreover, it may help in indicating the underlying hypoxic condition in the placenta.

Yu, Hong; Shen, Yanting; Ge, Qinyu; He, Youji; Qiao, Dongyan; Ren, Mulan; Zhang, Jianqiong

2013-01-01

317

Distinct high resolution genome profiles of early onset and late onset colorectal cancer integrated with gene expression data identify candidate susceptibility loci  

PubMed Central

Background Estimates suggest that up to 30% of colorectal cancers (CRC) may develop due to an increased genetic risk. The mean age at diagnosis for CRC is about 70 years. Time of disease onset 20 years younger than the mean age is assumed to be indicative of genetic susceptibility. We have compared high resolution tumor genome copy number variation (CNV) (Roche NimbleGen, 385 000 oligo CGH array) in microsatellite stable (MSS) tumors from two age groups, including 23 young at onset patients without known hereditary syndromes and with a median age of 44 years (range: 28-53) and 17 elderly patients with median age 79 years (range: 69-87). Our aim was to identify differences in the tumor genomes between these groups and pinpoint potential susceptibility loci. Integration analysis of CNV and genome wide mRNA expression data, available for the same tumors, was performed to identify a restricted candidate gene list. Results The total fraction of the genome with aberrant copy number, the overall genomic profile and the TP53 mutation spectrum were similar between the two age groups. However, both the number of chromosomal aberrations and the number of breakpoints differed significantly between the groups. Gains of 2q35, 10q21.3-22.1, 10q22.3 and 19q13.2-13.31 and losses from 1p31.3, 1q21.1, 2q21.2, 4p16.1-q28.3, 10p11.1 and 19p12, positions that in total contain more than 500 genes, were found significantly more often in the early onset group as compared to the late onset group. Integration analysis revealed a covariation of DNA copy number at these sites and mRNA expression for 107 of the genes. Seven of these genes, CLC, EIF4E, LTBP4, PLA2G12A, PPAT, RG9MTD2, and ZNF574, had significantly different mRNA expression comparing median expression levels across the transcriptome between the two groups. Conclusions Ten genomic loci, containing more than 500 protein coding genes, are identified as more often altered in tumors from early onset versus late onset CRC. Integration of genome and transcriptome data identifies seven novel candidate genes with the potential to identify an increased risk for CRC.

2010-01-01

318

Adult-onset obesity induced by early life overnutrition could be reversed by moderate caloric restriction.  

PubMed

Overnutrition during the suckling period (small litter, SL) results in the development of adult-onset obesity. Our aim was to investigate whether two levels of caloric restriction (CR) in the early postweaning period can reverse obese phenotype in SL rats. The normal litter (NL) had 12 pups/dam and SL had 3 male pups/dam from the postnatal day 3 until day 21. After weaning, rats consumed lab chow as indicated: 1) NL and SL groups were on ad libitum regimen up to day 140, 2) another SL group was pair-fed (SL/PF) to NL(?14% reduction), 3) SL/PF/AL group was pair-fed up to day 94 and then switched to ad libitum feeding, 4) SL/CR group received 24% reduction (moderate CR) in food intake compared with SL, and 5) SL/CR/AL group was on 24% CR up to day 94 and then switched to ad libitum feeding. Pair-feeding reduced body weight gains and serum insulin and leptin levels compared with SL rats, but these parameters were restored to SL levels in the SL/PF/AL rats after switching to ad libitum feeding. Interestingly, the moderate CR normalized these parameters in SL/CR and SL/CR/AL rats compared with NL. The expression of neuropeptide Y, proopiomelanocortin, and leptin receptor returned to control levels in hypothalami from SL/CR and SL/CR/AL rats. These results indicate that appropriate manipulation of energy intake during the early postweaning period could lead to longer-lasting effects on the regulation of body weight homeostasis via reversal of the early preweaning programming effects on the hypothalamic appetite regulation mechanism. PMID:23900419

Liu, Hung-Wen; Srinivasan, Malathi; Mahmood, Saleh; Smiraglia, Dominic J; Patel, Mulchand S

2013-07-30

319

Reading Aloud in Persian: ERP Evidence for an Early Locus of the Masked Onset Priming Effect  

ERIC Educational Resources Information Center

|The current study investigates reading aloud words in Persian, a language that does not mark all its vowels in the script. Behaviorally, a "masked onset priming effect" (MOPE) was revealed for transparent words, with faster speech onset latencies in the phoneme-matching condition (i.e. phonological prime and target onset overlap; e.g. [image…

Timmer, Kalinka; Vahid-Gharavi, Narges; Schiller, Niels O.

2012-01-01

320

Bone mineral density in partially recovered early onset anorexic patients - a follow-up investigation  

PubMed Central

Background and aims There still is a lack of prospective studies on bone mineral development in patients with a history of early onset Anorexia nervosa (AN). Therefore we assessed associations between bone mass accrual and clinical outcomes in a former clinical sample. In addition to an expected influence of regular physical activity and hormone replacement therapy, we explored correlations with nutritionally dependent hormones. Methods 3-9 years (mean 5.2 ± 1.7) after hospital discharge, we re-investigated 52 female subjects with a history of early onset AN. By means of a standardized approach, we evaluated the general outcome of AN. Moreover, bone mineral content (BMC) and bone mineral density (BMD) as well as lean and fat mass were measured by dual-energy x-ray absorptiometry (DXA). In a substudy, we measured the serum concentrations of leptin and insulin-like growth factor-I (IGF-I). Results The general outcome of anorexia nervosa was good in 50% of the subjects (BMI ? 17.5 kg/m2, resumption of menses). Clinical improvement was correlated with BMC and BMD accrual (?2 = 5.62/?2 = 6.65, p = 0.06 / p = 0.036). The duration of amenorrhea had a negative correlation with BMD (r = -.362; p < 0.01), but not with BMC. Regular physical activity tended to show a positive effect on bone recovery, but the effect of hormone replacement therapy was not significant. Using age-related standards, the post-discharge sample for the substudy presented IGF-I levels below the 5th percentile. IGF-I serum concentrations corresponded to the general outcome of AN. By contrast, leptin serum concentrations showed great variability. They correlated with BMC and current body composition parameters. Conclusions Our results from the main study indicate a certain adaptability of bone mineral accrual which is dependent on a speedy and ongoing recovery. While leptin levels in the substudy tended to respond immediately to current nutritional status, IGF-I serum concentrations corresponded to the individual's age and general outcome of AN.

2010-01-01

321

Adult-onset autosomal dominant leukodystrophy without early autonomic dysfunctions linked to lamin B1 duplication: a phenotypic variant.  

PubMed

The early presentation of autonomic dysfunctions at the disease onset has been considered the mandatory clinical feature in adult-onset autosomal dominant leukodystrophy, which is a rarely recognised leukodystrophy caused by duplication of the lamin B1 gene. We report the first family with adult-onset autosomal dominant leukodystrophy and lamin B1 duplication, without the distinguishing early-appearing autonomic dysfunctions. Subjects from three consecutive generations of a multi-generational Serbian family affected by adult-onset autosomal dominant leukodystrophy underwent clinical, biochemical, neurophysiological, neuroradiological, and genetic studies. The patients atypically exhibited late autonomic dysfunctions commencing at the disease end-stages in some. Genetic findings of lamin B1 duplication verified adult-onset autosomal dominant leukodystrophy, which was supported also by neuroimaging studies. Exclusively, proton magnetic spectroscopy of the brain revealed a possibility of neuro-axonal damage in the white matter lesions, while magnetic resonance imaging of the spinal cord excluded spinal myelin affection as a required finding in this leukodystrophy. The detection of lamin B1 duplication, even when autonomic dysfunctions do not precede the other symptoms of the disease, proves for the first time that lamin B1-duplicated adult-onset autosomal dominant leukodystrophy may have a phenotypic variant with delayed autonomic dysfunctions. Prior to this report, such a phenotype had been speculated to represent an entity different from lamin B1-duplicated leukodystrophy. Hereby we confirm the underlying role of lamin B1 duplication, regardless of the autonomic malfunction onset in this disorder. It is the only report on adult-onset autosomal dominant leukodystrophy from Southeastern Europe. PMID:23681646

Potic, Ana; Pavlovic, Aleksandra M; Uziel, Graziella; Kozic, Dusko; Ostojic, Jelena; Rovelli, Attilio; Sternic, Nadezda; Bjelan, Mladen; Sarto, Elisa; Di Bella, Daniela; Taroni, Franco

2013-05-17

322

Two phenotypes and anticipation observed in Japanese cases with early onset torsion dystonia (DYT1) – pathophysiological consideration  

Microsoft Academic Search

Early onset torsion dystonia (DYT1) is a dominantly inherited dystonia caused by a deletion of three bases, GAG, coding glutamic acid, in chromosome 9q34. The protein coded by this gene was named as torsin A. DYT1 is common among the Ashkenazi Jewish population, but has been thought to be rare among Japanese. Among the idiopathic torsion dystonias being followed in

Yoshiko Nomura; Takeshi Ikeuchi; Shoji Tsuji; Masaya Segawa

2000-01-01

323

A mutation in a case of early onset narcolepsy and a generalized absence of hypocretin peptides in human narcoleptic brains  

Microsoft Academic Search

We explored the role of hypocretins in human narcolepsy through histopathology of six narcolepsy brains and mutation screening of Hcrt, Hcrtr1 and Hcrtr2 in 74 patients of various human leukocyte antigen and family history status. One Hcrt mutation, impairing peptide trafficking and processing, was found in a single case with early onset narcolepsy. In situ hybridization of the perifornical area

Christelle Peyron; Juliette Faraco; William Rogers; Beth Ripley; Sebastiaan Overeem; Yves Charnay; Sona Nevsimalova; Michael Aldrich; David Reynolds; Roger Albin; Robin Li; Marcel Hungs; Mario Pedrazzoli; Muralidhara Padigaru; Melanie Kucherlapati; Jun Fan; Richard Maki; Gert Jan Lammers; Constantin Bouras; Raju Kucherlapati; Seiji Nishino; Emmanuel Mignot

2000-01-01

324

Clinical Course of Early Onset Prostate Cancer with Special Reference to Family History as a Prognostic Factor  

Microsoft Academic Search

Objective: The aim of this study was to describe the clinical characteristics of early onset prostate cancer, with special reference to family history as a possible prognostic factor. Material and Methods: We identified all cases of prostate cancer diagnosed before the age of 51 in the Southern health care region in Sweden between 1958 and 1994. Clinical data were collected

Ola Bratt; Ulf Kristoffersson; Håkan Olsson; Rolf Lundgren

1998-01-01

325

A Meta-Analysis of Neuropsychological Functioning in Patients with Early Onset Schizophrenia and Pediatric Bipolar Disorder  

ERIC Educational Resources Information Center

|Despite the nosological distinction between bipolar disorder and schizophrenia, there is increasing evidence that these conditions share phenomenological characteristics. To examine the similarities in their patterns of cognitive impairment, we conducted a meta-analysis from 12 studies of Early Onset Schizophrenia (EOS) and 12 studies of…

Nieto, Rebeca Garcia; Castellanos, F. Xavier

2011-01-01

326

Knowledge about breast cancer risk factors and hereditary breast cancer among early-onset breast cancer survivors  

Microsoft Academic Search

Little is known about knowledge levels regarding hereditary breast cancer among breast cancer survivors. This study explored, among women with early-onset breast cancer (<50 years): 1) knowledge regarding breast cancer risk factors and hereditary breast cancer; and 2) differences in knowledge based on risk for hereditary disease. Participants recruited from 34 Virginia hospitals responded to two questionnaires. The Family History

Susan Miesfeldt; Wendy Cohn; Mary Ropka; Susan Jones

2001-01-01

327

Impaired Facial Expression Recognition in Children with Temporal Lobe Epilepsy: Impact of Early Seizure Onset on Fear Recognition  

ERIC Educational Resources Information Center

|The amygdala has been implicated in the recognition of facial emotions, especially fearful expressions, in adults with early-onset right temporal lobe epilepsy (TLE). The present study investigates the recognition of facial emotions in children and adolescents, 8-16 years old, with epilepsy. Twenty-nine subjects had TLE (13 right, 16 left) and…

Golouboff, Nathalie; Fiori, Nicole; Delalande, Olivier; Fohlen, Martine; Dellatolas, Georges; Jambaque, Isabelle

2008-01-01

328

Academic Skills in Children with Early-Onset Type 1 Diabetes: The Effects of Diabetes-Related Risk Factors  

ERIC Educational Resources Information Center

|Aim: The study aimed to assess the effects of diabetes-related risk factors, especially severe hypoglycaemia, on the academic skills of children with early-onset type 1 diabetes mellitus (T1DM). Method: The study comprised 63 children with T1DM (31 females, 32 males; mean age 9y 11mo, SD 4mo) and 92 comparison children without diabetes (40…

Hannonen, Riitta; Komulainen, Jorma; Riikonen, Raili; Ahonen, Timo; Eklund, Kenneth; Tolvanen, Asko; Keskinen, Paivi; Nuuja, Anja

2012-01-01

329

Verbal Behavior in Young Children with Autism Spectrum Disorders at the Onset of an Early Behavioral Intervention Program  

ERIC Educational Resources Information Center

|The scope of this study was direct observation of verbal behaviors of 14 children with autism spectrum disorders at the onset of an early behavioral intervention (EBI) program delivered in a public services agency. Objectives were to (1) describe frequencies of vocal, verbal, and listener behaviors; (2) evaluate the relationship between the…

Rivard, Melina; Forget, Jacques

2012-01-01

330

The Northern Ireland Early Onset Psychosis Study: Phenomenology and Co-Morbidity in the First 25 Cases  

ERIC Educational Resources Information Center

|Diagnosing psychotic disorders in young people is difficult. High rates of co-morbidity may be one reason for this difficulty, but it may also be the case that current diagnostic categories are not the most useful when approaching the care of young people with psychotic symptoms. The Northern Ireland Early Onset Psychosis Study is the first study…

Fulton, Karen; Short, Mary; Harvey-Smith, Diane; Rushe, Teresa M.; Mulholland, Ciaran

2008-01-01

331

Familial early onset frontotemporal dementia caused by a novel S356T MAPT mutation, initially diagnosed as schizophrenia  

Microsoft Academic Search

Autosomal dominant frontotemporal dementia (FTD) due to mutations in the MAPT gene is referred to as FTD with parkinsonism linked to chromosome 17 with tau pathology (FTDP-17T). Typically the disease begins in the sixth decade of life. We report a novel exon 12 mutation in MAPT (S356T), in a family with an exceptionally early age at onset (27 and 29

Parastoo Momeni; Mirdhu M. Wickremaratchi; Jason Bell; Richard Arnold; Roger Beer; John Hardy; Tamas Revesz; James W. Neal; Huw R. Morris

2010-01-01

332

Components of Negative Affect as Moderators of the Relationship between Early Drinking Onset and Binge-Drinking Behavior  

ERIC Educational Resources Information Center

|This study examines the moderating effects of negative affect on the relationship between early drinking onset and binge-drinking behavior. Six hundred and thirty-five eleventh- and twelfth-grade students completed the American Drug and Alcohol Survey and reported on a variety of measures, including items assessing anxiety, anger, depression, age…

McNamara, Robert S.; Swaim, Randall C.; Rosen, Lee A.

2010-01-01

333

Speech disturbance at stroke onset is correlated with stroke early mortality  

PubMed Central

Background Speech disturbance is a common symptom of stroke and is important as a prompt identifier of the event. The frequency of the symptom among each stroke subtype, differences between patients with and without speech disturbance and its correlation to early mortality remain unclear. Methods The Kyoto prefecture of Japan has established a registry to enroll new stroke patients in cooperation with the Kyoto Medical Association and its affiliated hospitals. It is named the Kyoto Stroke Registry (KSR). We confirmed the existence or absence of speech disturbance in 1693 stroke patients registered to the KSR and investigated associations between speech disturbance and other characteristics. Results Speech disturbance was observed in 52.6% of cerebral infarction (CI), 47.5% of cerebral hemorrhage (CH), and 8.0% of subarachnoid hemorrhage (SAH) cases. Characteristics showing statistically significant differences between patients with and without speech disturbance and patients were age, blood pressure, history of hypertension, arrhythmia and diabetes mellitus, habit of tobacco and alcohol, and paresis. Mortality rates of patients with/without speech disturbance were 5.2%/1.2% for CI, 12.5% /4.1% for CH, and 62.5%/ 9.0% for SAH. Adjusted hazard ratios were 2.63 (1.14-6.13, p?=?0.024) in CI, 4.15 (1.41-12.23, p?=?0.010) in CH, and 20.46 (4.40-95.07, p?onset and therefore could be useful to identify the problem at the earliest stage. Hazard ratio for death was higher in stroke patients with speech disturbance than patients without. Speech disturbance is a prompt predictor of stroke early mortality. Hiromi Nakano, Yoshiyuki Watanabe, Tatsuyuki Sekimoto, Kouichiro Shimizu, Akihiko Nishizawa, Atsushi Okumura and Masahiro Makino contributed equally to this work.

2013-01-01

334

Peripheral joint inflammation in early onset spondyloarthritis is not specifically related to enthesitis.  

PubMed

OBJECTIVES: A pivotal MRI study of knee arthritis indicated that enthesitis was more frequently observed in established spondyloartritis (SpA) than rheumatoid arthritis (RA). Subsequent MRI and ultrasound studies, however, failed to consistently demonstrate primary synovitis in RA versus primary enthesitis in SpA. Therefore, the current study aimed to reassess enthesitis versus synovitis in peripheral arthritis by a combined imaging and histopathological study in early untreated disease. METHODS: MRI and mini-arthroscopic synovial biopsy sampling were performed in 41 patients with early untreated knee or ankle arthritis, who were diagnosed with SpA (n=13), RA (n=20) or crystal arthropathy (n=8) at follow-up. MRI evaluation of enthesitis and synovitis, and immunohistochemical characterisation of synovitis were performed by two observers blinded to diagnosis. RESULTS: MRI showed similar prevalence of perientheseal fluid/oedema (67% vs 75%), perientheseal bone marrow oedema (0% vs 10%) and entheseal enhancement (46% vs 47%) in SpA versus RA, respectively. The number and distribution of affected entheseal sites were not different between both diseases. The MRI synovitis score was significantly higher in SpA (median 1.4; IQR 1.1-1.5) compared with RA (median 0.5; IQR 0.0-1.3) (p=0.028). Synovial histopathology showed a numerical increase in infiltrating cells in SpA versus RA synovitis which reached significance for CD163 macrophages in the synovial sublining (p=0.030). There were no differences compared with the crystal arthropathy control group. CONCLUSIONS: Enthesitis on MRI is not a specific feature of peripheral arthritis in recent onset SpA versus RA. Synovitis is prominent in both diseases as evaluated by MRI and immunohistochemistry. PMID:23619158

Paramarta, Jacqueline E; van der Leij, Christiaan; Gofita, Ioana; Yeremenko, Nataliya; van de Sande, Marleen G; de Hair, Maria J; Tak, Paul P; Maas, Mario; Baeten, Dominique

2013-04-25

335

Measurement of forces generated during distraction of growing-rods in early onset scoliosis  

PubMed Central

AIM: To measure the forces applied during distraction of growing-rods in early onset scoliosis (EOS), aimed at developing a motorized elongation device. METHODS: A consecutive series of measurements were carried out to analyze the forces applied by the surgeon during distraction of single growing-rods in 10 patients affected by EOS (mean age 8.3 years; range 6 to 10 years) undergoing the first distraction 6 months following implantation of the rods. For each measurement, output from the transducer of a dedicated pair of distraction calipers was recorded at zero load status and at every 1 mm of distraction, up to a maximum of 12 mm for each of the two connected rods. RESULTS: Twenty measurements were obtained showing a linear increase of the load with increasing distraction, with a mean peak force of 485 N at 12 mm distraction and a single reading over 500 N. We did not observe bone fractures or ligament disruptions during or after rod elongations. There was one case of superficial wound infection in the cohort. CONCLUSION: The safe peak force carrying capacity of a motorized device for distraction of growing-rods is 500N.

Teli, Marco; Grava, Giuseppe; Solomon, Victor; Andreoletti, Giuseppe; Grismondi, Emanuele; Meswania, Jay

2012-01-01

336

The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy  

PubMed Central

Background Inherited retinal dystrophies, including Retinitis Pigmentosa and Leber Congenital Amaurosis among others, are a group of genetically heterogeneous disorders that lead to variable degrees of visual deficits. They can be caused by mutations in over 100 genes and there is evidence for the presence of as yet unidentified genes in a significant proportion of patients. We aimed at identifying a novel gene for an autosomal recessive form of early onset severe retinal dystrophy in a patient carrying no previously described mutations in known genes. Methods An integrated strategy including homozygosity mapping and whole exome sequencing was used to identify the responsible mutation. Functional tests were performed in the medaka fish (Oryzias latipes) model organism to gain further insight into the pathogenic role of the ADAMTS18 gene in eye and central nervous system (CNS) dysfunction. Results This study identified, in the analyzed patient, a homozygous missense mutation in the ADAMTS18 gene, which was recently linked to Knobloch syndrome, a rare developmental disorder that affects the eye and the occipital skull. In vivo gene knockdown performed in medaka fish confirmed both that the mutation has a pathogenic role and that the inactivation of this gene has a deleterious effect on photoreceptor cell function. Conclusion This study reveals that mutations in the ADAMTS18 gene can cause a broad phenotypic spectrum of eye disorders and contribute to shed further light on the complexity of retinal diseases.

2013-01-01

337

Early onset lactating adenoma and the role of breast MRI: a case report  

PubMed Central

Introduction Lactating adenoma is a benign condition, representing the most prevalent breast lesion in pregnant women and during puerperium; in this paper, a case of a woman with lactating adenoma occurring during the first trimester of pregnancy is reported. There have been no reports in the literature, according to our search, focusing on magnetic resonance imaging findings in cases of lactating adenomas. Also the early onset of the lesion during the first trimester of pregnancy is quite unusual and possibly unique. Case presentation We report the case of a primiparous 30-year-old Caucasian woman, who noted an asymptomatic lump within her left breast during the 9th week of gestation, slightly increasing in size over the next few weeks. Ultrasound demonstrated a hypoecoic solid mass, hypervascularized and measuring 4 cm. On magnetic resonance imaging, performed in the first month after delivery, the lesion appeared as an ovoidal homogeneous mass, with regular margins and a significant contrast enhancement indicative of a giant adenoma. Conclusion Magnetic resonance imaging could play an important role in the differential diagnosis of pregnancy-related breast lumps, particularly during puerperium, thus avoiding unnecessary surgical biopsies.

2009-01-01

338

Memory in early onset bipolar disorder and attention-deficit/hyperactivity disorder: similarities and differences.  

PubMed

Differentiating between early-onset bipolar disorder (BD) and attention-deficit/hyperactivity disorder (ADHD) can be difficult. Memory problems are commonly reported in BD, and forgetfulness is among the diagnostic criteria for ADHD. We compared children and adolescents with BD (n?=?23), ADHD combined type (ADHD-C; n?=?26), BD?+?ADHD-C (n?=?15), and 68 healthy controls on memory tests (Digit span, Children's Verbal Learning Test-II). Further analyses were performed on subgroups of BD (BD-I, BD-II/BD-NOS, with and without previous psychotic symptoms). All clinical groups demonstrated some problems with free recall, but the BD subgroup with a history of psychotic symptoms had a more pervasive problem that also included recognition and semantic clustering. The ADHD-C groups demonstrated the lowest performance on working memory. These data suggest that children and adolescents with BD and previously psychotic symptoms may have inefficient encoding of verbal material, whereas memory problems in ADHD-C appear more characterized by impaired free recall. PMID:22622490

Udal, Anne H; Oygarden, Bjørg; Egeland, Jens; Malt, Ulrik F; Groholt, Berit

2012-10-01

339

Whole body muscle MRI protocol: pattern recognition in early onset NM disorders.  

PubMed

A paediatric and adult whole-body MRI (WB-MRI) protocol using a 1.5-T MRI system was used to examine 117 individuals (106 patients, 11 asymptomatic relatives). Genetic diagnosis was obtained in 38 subjects (RYR1, LMNA, COL6, DNM2, GAA, TPM2, SGCA, MYH7, NEB, SMN, FKBP14). T1-TSE WB-MRI sequences were abnormal in 67% of patients and 27% of asymptomatic relatives. Multiple striped signal abnormalities ('tiger-like') were very specific for COLVI-related myopathy. Distinct involvement of muscles in the head, neck, trunk, girdles and limbs was observed in patients with RYR1, SEPN1, GAA, LMNA or TPM2 mutations. Abnormalities and pattern recognition were more frequent in patients studied due to rigid spine syndrome (80% abnormal, recognisable in 75% of cases), hyperlaxity syndrome (75%; 50%) or with confirmed myopathy but absence of these markers (71%; 40%). Pattern was consistent with the molecular diagnosis in 97%. Mild clinical involvement was revealed by muscle testing in three parents with abnormal WB-MRI. The Garches WB-MRI protocol is suitable for a large spectrum of adults and children with early-onset neuromuscular disorders and can be used as an effective screening test in relatives. Recognition of characteristic patterns of abnormalities is improved by whole-body scanning compared with sequential MRI and, therefore, diagnostic impact is greater. PMID:22980770

Quijano-Roy, Susana; Avila-Smirnow, Daniela; Carlier, Robert Y

2012-10-01

340

Neuropsychological Profile in Early-Onset Schizophrenia-Spectrum Disorders: Measured With the MATRICS Battery  

PubMed Central

Objective: Neurocognitive impairments have been documented in adolescents with early-onset schizophrenia (EOS). There is still inconsistency regarding an average profile, which could be due to the fact that each study uses different tests. The purpose of this study was to examine whether the “Measurement and Treatment Research to Improve Cognition in Schizophrenia” (MATRICS) battery is useful in detecting differences between the patient group and the healthy controls, and to describe the neuropsychological pattern in the EOS group. Method: Neuropsychological functioning was examined in 31 adolescents with schizophrenia spectrum disorders and 67 healthy controls, using the MATRICS battery. Results: There were significant differences between the patients and the controls on every domain except for social cognition. Patients showed a generalized neurocognitive deficit of 0.8–1.8 SDs compared with controls, with verbal learning, working memory, and visual learning being the most affected areas. Conclusions: The MATRICS battery is sensitive in detecting differences between patients and controls in the adolescent population. However, we question the use of Mayer-Salovey-Caruso Emotional Intelligence Test in this age group. Results document a significant generalized deficit in adolescents with EOS.

Holmen, Aina; Juuhl-Langseth, Monica; Thormodsen, Rune; Melle, Ingrid; Rund, Bj?rn Rishovd

2010-01-01

341

Reduced Cortisol in Boys with Early-Onset Conduct Disorder and Callous-Unemotional Traits  

PubMed Central

Background. A growing body of evidence suggests an association between altered hypothalamic-pituitary-adrenal axis reactivity and the development of persistent antisocial behavior in children. However the effects of altered cortisol levels remain poorly understood in the complex context of conduct disorder, callous-unemotional (CU) personality traits, and frequent comorbidities, such as attention deficit hyperactivity disorder (ADHD). The aim of the current study was to investigate associations among CU traits, antisocial behavior, and comorbid ADHD symptomatology with cortisol levels in male children and adolescents. Methods. The study included 37 boys with early-onset conduct disorder (EO-CD, mean age 11.9 years) and 38 healthy boys (mean age 12.5 years). Participants were subjected to multiple daytime salivary cortisol measurements and a psychometric characterization. Results. Subjects in the EO-CD group with elevated CU traits showed a diminished cortisol awakening response compared to healthy participants. In the EO-CD group, high CU traits and impulsivity were associated with decreased diurnal cortisol levels, while associations with antisocial behavior were not detected. The cortisol awakening response was significantly inversely associated with hyperactivity (P = 0.02) and marginally significant with CU traits (P = 0.07). Conclusions. These results indicate a specific association between CU traits and a diminished stress response, which is not explained by antisocial behavior in general.

von Polier, Georg G.; Herpertz-Dahlmann, Beate; Wiesler, Kristine; Rieke, Jana; Heinzel-Gutenbrunner, Monika; Bachmann, Christian J.; Vloet, Timo D.

2013-01-01

342

Early Pliocene evolution of an overdeepened Antarctic Peninsula continental shelf: onset of modern glacial dynamics  

NASA Astrophysics Data System (ADS)

Seismic stratigraphic information and high abundances of Paralia sulcata, a neritic diatom, show that grounding events in the late Miocene occurred on a relatively shallow continental shelf. The absence of P. sulcata and the presence of Stephanopyxis spp., a deeper-water indicator, within the overlying lower Pliocene strata show that the shelf underwent a transition to a deeper continental shelf at ~5.2 Ma. This transition was probably coincident with the evolution of entrenched glacial troughs on the inner shelf. The development of trough mouth fans (TMFs) show that robust ice streams were a major feature of APIS grounding events during the early Pliocene. The cessation of TMF outbuilding corresponds to an upsection percentage increase in the deeper-water species (Stephanopyxis spp.). Diatom biozones suggests that this feature of the modern foredeepened shelf with overdeepened troughs and banks may have only been in existence since ~4.25 Ma. The modern physiography evolved during a relatively brief (~1-Ma) interval of enhanced sub-glacial erosion of the continental shelf. Thus, despite a much earlier onset of glacial conditions on the Antarctic Peninsula, some of the ways that the APIS and the Antarctic continental shelf participates and responds to the current climate system are geologically recent.

Bart, P. J.; Iwai, M.

2007-12-01

343

High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease.  

PubMed

Performing exome sequencing in 14 autosomal dominant early-onset Alzheimer disease (ADEOAD) index cases without mutation on known genes (amyloid precursor protein (APP), presenilin1 (PSEN1) and presenilin2 (PSEN2)), we found that in five patients, the SORL1 gene harbored unknown nonsense (n=1) or missense (n=4) mutations. These mutations were not retrieved in 1500 controls of same ethnic origin. In a replication sample, including 15 ADEOAD cases, 2 unknown non-synonymous mutations (1 missense, 1 nonsense) were retrieved, thus yielding to a total of 7/29 unknown mutations in the combined sample. Using in silico predictions, we conclude that these seven private mutations are likely to have a pathogenic effect. SORL1 encodes the Sortilin-related receptor LR11/SorLA, a protein involved in the control of amyloid beta peptide production. Our results suggest that besides the involvement of the APP and PSEN genes, further genetic heterogeneity, involving another gene of the same pathway is present in ADEOAD. PMID:22472873

Pottier, C; Hannequin, D; Coutant, S; Rovelet-Lecrux, A; Wallon, D; Rousseau, S; Legallic, S; Paquet, C; Bombois, S; Pariente, J; Thomas-Anterion, C; Michon, A; Croisile, B; Etcharry-Bouyx, F; Berr, C; Dartigues, J-F; Amouyel, P; Dauchel, H; Boutoleau-Bretonnière, C; Thauvin, C; Frebourg, T; Lambert, J-C; Campion, D

2012-04-03

344

The early Miocene onset of a ventilated circulation regime in the Arctic Ocean.  

PubMed

Deep-water formation in the northern North Atlantic Ocean and the Arctic Ocean is a key driver of the global thermohaline circulation and hence also of global climate. Deciphering the history of the circulation regime in the Arctic Ocean has long been prevented by the lack of data from cores of Cenozoic sediments from the Arctic's deep-sea floor. Similarly, the timing of the opening of a connection between the northern North Atlantic and the Arctic Ocean, permitting deep-water exchange, has been poorly constrained. This situation changed when the first drill cores were recovered from the central Arctic Ocean. Here we use these cores to show that the transition from poorly oxygenated to fully oxygenated ('ventilated') conditions in the Arctic Ocean occurred during the later part of early Miocene times. We attribute this pronounced change in ventilation regime to the opening of the Fram Strait. A palaeo-geographic and palaeo-bathymetric reconstruction of the Arctic Ocean, together with a physical oceanographic analysis of the evolving strait and sill conditions in the Fram Strait, suggests that the Arctic Ocean went from an oxygen-poor 'lake stage', to a transitional 'estuarine sea' phase with variable ventilation, and finally to the fully ventilated 'ocean' phase 17.5 Myr ago. The timing of this palaeo-oceanographic change coincides with the onset of the middle Miocene climatic optimum, although it remains unclear if there is a causal relationship between these two events. PMID:17581581

Jakobsson, Martin; Backman, Jan; Rudels, Bert; Nycander, Jonas; Frank, Martin; Mayer, Larry; Jokat, Wilfried; Sangiorgi, Francesca; O'Regan, Matthew; Brinkhuis, Henk; King, John; Moran, Kathryn

2007-06-21

345

Characterization of a novel genetically obese mouse model demonstrating early onset hyperphagia and hyperleptinemia.  

PubMed

Obesity is a critical risk factor for the development of metabolic syndrome, and many obese animal models are used to investigate the mechanisms responsible for the appearance of symptoms. To establish a new obese mouse model, we screened ?13,000 ICR mice and discovered a mouse demonstrating spontaneous obesity. We named this mouse "Daruma" after a traditional Japanese ornament. Following the fixation of the genotype, these animals exhibited obese phenotypes according to Mendel's law of inheritance. In the Daruma mouse, the leptin receptor gene sequence carried two base mutations that are good candidates for the variation(s) responsible for the obese phenotype. The Daruma mice developed characteristic visceral fat accumulation at 4 wk of age, and the white adipose and liver tissues exhibited increases in cell size and lipid droplets, respectively. No histological abnormalities were observed in other tissues of the Daruma mice, even after the mice reached 25 wk of age. Moreover, the onset of impaired leptin signaling was early and manifested as hyperleptinemia and hyperinsulinemia. Pair feeding completely inhibited obesity, although these mice rapidly developed hyperphagia and obesity followed by hyperleptinemia when pair feeding ceased and free-access feeding was permitted. Therefore, the Daruma mice exhibited unique characteristics and may be a good model for studying human metabolic syndrome. PMID:23736543

Nakahara, Keiko; Bannai, Makoto; Maruyama, Keisuke; Suzuki, Yoshihiro; Okame, Rieko; Murakami, Noboru

2013-06-04

346

Non-healing ulcer on the foot: early onset unilateral Mali-type acroangiodermatitis.  

PubMed

Acroangiodermatitis (pseudo-Kaposi's sarcoma, AAD) is a benign vascular dermatosis that resembles Kaposi's sarcoma clinically and histopathologically (1). Four types have been defined: the Stewart-Bluefarb type accompanying chronic arteriovenous malformations, the Mali type accompanying stasis dermatitis, a type accompanying the first gestation, and a type accompanying arteriovenous shunts in patients with chronic kidney failure (3). Although AAD development is associated with chronic venous failure, less frequently AAD can develop as a complication of extremity paralysis, hemodialysis, post-traumatic arteriovenous fistula, amputated extremities, and vascular malformations (e.g., Klippel-Trénaunay syndrome). Pseudo-Kaposi's sarcoma can be histopathologically and clinically confused with malignant diseases such as Kaposi's sarcoma (1, 4). A 22-year-old male was referred to our outpatient clinic with a complaint of a non-healing wound on the distal phalanx of the left first toe. The patient was referred to various centers for 2 years and stated that he had received infection treatments but that his complaints did not disappear. An AAD diagnosis was established for the patient based on clinical and histopathologic evidence. Because he had early-onset disease and it was unilateral, the diagnosis was delayed. In addition, due to the rare occurrence of the disease, we histopathologically diagnosed this patient as having acroangiodermatitis. PMID:23836359

Ozkaya, Dilek B?y?k; Su, Ozlem; Onsun, Nahide; Ulusal, Hande; Demirkesen, Cuyan

2013-01-01

347

Role of periodontal pathogenic bacteria in RANKL-mediated bone destruction in periodontal disease  

PubMed Central

Accumulated lines of evidence suggest that hyperimmune responses to periodontal bacteria result in the destruction of periodontal connective tissue and alveolar bone. The etiological roles of periodontal bacteria in the onset and progression of periodontal disease (PD) are well documented. However, the mechanism underlying the engagement of periodontal bacteria in RANKL-mediated alveolar bone resorption remains unclear. Therefore, this review article addresses three critical subjects. First, we discuss earlier studies of immune intervention, ultimately leading to the identification of bacteria-reactive lymphocytes as the cellular source of osteoclast-induction factor lymphokine (now called RANKL) in the context of periodontal bone resorption. Next, we consider (1) the effects of periodontal bacteria on RANKL production from a variety of adaptive immune effector cells, as well as fibroblasts, in inflamed periodontal tissue and (2) the bifunctional roles (upregulation vs. downregulation) of LPS produced from periodontal bacteria in a RANKL-induced osteoclast-signal pathway. Future studies in these two areas could lead to new therapeutic approaches for the management of PD by down-modulating RANKL production and/or RANKL-mediated osteoclastogenesis in the context of host immune responses against periodontal pathogenic bacteria.

Kajiya, Mikihito; Giro, Gabriela; Taubman, Martin A.; Han, Xiaozhe; Mayer, Marcia P.A.; Kawai, Toshihisa

2010-01-01

348

Amniotic Fluid Tumor Necrosis Factor-Alpha Is a Marker for the Prediction of Early-Onset Neonatal Sepsis in Preterm Labor  

Microsoft Academic Search

Background: Our purpose was to determine whether amniotic fluid concentrations of tumor necrosis factor-? are of value in the prediction of early-onset neonatal sepsis (proven or suspected) in patients with preterm labor and intact membranes. Methods: The relationship between amniotic fluid tumor necrosis factor-? concentrations and early-onset neonatal sepsis was examined in 59 consecutive patients with preterm labor and intact

Kyo Hoon Park; Bo Hyun Yoon; Soon-Sup Shim; Jong Kwan Jun; Hee Chul Syn

2004-01-01

349

CLC and IFNAR1 are differentially expressed and a global immunity score is distinct between early- and late-onset colorectal cancer  

Microsoft Academic Search

Colorectal cancer (CRC) incidence increases with age, and early onset of the disease is an indication of genetic predisposition, estimated to cause up to 30% of all cases. To identify genes associated with early-onset CRC, we investigated gene expression levels within a series of young patients with CRCs who are not known to carry any hereditary syndromes (n=24; mean 43

T H Ågesen; M Berg; T Clancy; E Thiis-Evensen; L Cekaite; G E Lind; J M Nesland; A Bakka; T Mala; H J Hauss; T Fetveit; M H Vatn; E Hovig; A Nesbakken; R A Lothe; R I Skotheim

2011-01-01

350

Early-onset obsessive–compulsive disorder and personality disorders in adulthood  

Microsoft Academic Search

Obsessive–compulsive disorder (OCD) often emerges in childhood or adolescence. The aim of the present study was to evaluate whether adult patients with prepuberal onset differ from subjects with later onset in terms of personality disorder comorbidity. The Structured Clinical Interview for DSM-IV Axis II Disorders was used to assess 148 patients with a principal diagnosis of OCD according to the

Giuseppe Maina; Umberto Albert; Virginio Salvi; Enrico Pessina; Filippo Bogetto

2008-01-01

351

Huntington Disease: A Case Study of Early Onset Presenting as Depression  

ERIC Educational Resources Information Center

|Huntington disease is a dominantly inherited, neurodegenerative disease characterized by choreiform movement disturbances and dementia, usually with adult onset. The rare juvenile-onset Huntington disease differs from the adult phenotype. A case presenting twice, at age 10 with all the signs of a major depression and age 14 with mutism and…

Duesterhus, Pia; Schimmelmann, Benno Graf; Wittkugel, Oliver; Schulte-Markwort, Michael

2004-01-01

352

Huntington Disease: A Case Study of Early Onset Presenting as Depression  

ERIC Educational Resources Information Center

Huntington disease is a dominantly inherited, neurodegenerative disease characterized by choreiform movement disturbances and dementia, usually with adult onset. The rare juvenile-onset Huntington disease differs from the adult phenotype. A case presenting twice, at age 10 with all the signs of a major depression and age 14 with mutism and…

Duesterhus, Pia; Schimmelmann, Benno Graf; Wittkugel, Oliver; Schulte-Markwort, Michael

2004-01-01

353

A Mouse Model of Early-Onset Renal Failure Due to a Xanthine Dehydrogenase Nonsense Mutation  

PubMed Central

Chronic kidney disease (CKD) is characterized by renal fibrosis that can lead to end-stage renal failure, and studies have supported a strong genetic influence on the risk of developing CKD. However, investigations of the underlying molecular mechanisms are hampered by the lack of suitable hereditary models in animals. We therefore sought to establish hereditary mouse models for CKD and renal fibrosis by investigating mice treated with the chemical mutagen N-ethyl-N-nitrosourea, and identified a mouse with autosomal recessive renal failure, designated RENF. Three-week old RENF mice were smaller than their littermates, whereas at birth they had been of similar size. RENF mice, at 4-weeks of age, had elevated concentrations of plasma urea and creatinine, indicating renal failure, which was associated with small and irregularly shaped kidneys. Genetic studies using DNA from 10 affected mice and 91 single nucleotide polymorphisms mapped the Renf locus to a 5.8Mbp region on chromosome 17E1.3. DNA sequencing of the xanthine dehydrogenase (Xdh) gene revealed a nonsense mutation at codon 26 that co-segregated with affected RENF mice. The Xdh mutation resulted in loss of hepatic XDH and renal Cyclooxygenase-2 (COX-2) expression. XDH mutations in man cause xanthinuria with undetectable plasma uric acid levels and three RENF mice had plasma uric acid levels below the limit of detection. Histological analysis of RENF kidney sections revealed abnormal arrangement of glomeruli, intratubular casts, cellular infiltration in the interstitial space, and interstitial fibrosis. TUNEL analysis of RENF kidney sections showed extensive apoptosis predominantly affecting the tubules. Thus, we have established a mouse model for autosomal recessive early-onset renal failure due to a nonsense mutation in Xdh that is a model for xanthinuria in man. This mouse model could help to increase our understanding of the molecular mechanisms associated with renal fibrosis and the specific roles of XDH and uric acid.

Gorvin, Caroline M.; Head, Rosie; Loh, Nellie Y.; Devuyst, Olivier; Thomas, Gethin; Brown, Steve D. M.; Brown, Matthew; Croucher, Peter; Cox, Roger; Thakker, Rajesh V.

2012-01-01

354

Cooperative Genome-Wide Analysis Shows Increased Homozygosity in Early Onset Parkinson's Disease  

PubMed Central

Parkinson's disease (PD) occurs in both familial and sporadic forms, and both monogenic and complex genetic factors have been identified. Early onset PD (EOPD) is particularly associated with autosomal recessive (AR) mutations, and three genes, PARK2, PARK7 and PINK1, have been found to carry mutations leading to AR disease. Since mutations in these genes account for less than 10% of EOPD patients, we hypothesized that further recessive genetic factors are involved in this disorder, which may appear in extended runs of homozygosity. We carried out genome wide SNP genotyping to look for extended runs of homozygosity (ROHs) in 1,445 EOPD cases and 6,987 controls. Logistic regression analyses showed an increased level of genomic homozygosity in EOPD cases compared to controls. These differences are larger for ROH of 9 Mb and above, where there is a more than three-fold increase in the proportion of cases carrying a ROH. These differences are not explained by occult recessive mutations at existing loci. Controlling for genome wide homozygosity in logistic regression analyses increased the differences between cases and controls, indicating that in EOPD cases ROHs do not simply relate to genome wide measures of inbreeding. Homozygosity at a locus on chromosome19p13.3 was identified as being more common in EOPD cases as compared to controls. Sequencing analysis of genes and predicted transcripts within this locus failed to identify a novel mutation causing EOPD in our cohort. There is an increased rate of genome wide homozygosity in EOPD, as measured by an increase in ROHs. These ROHs are a signature of inbreeding and do not necessarily harbour disease-causing genetic variants. Although there might be other regions of interest apart from chromosome 19p13.3, we lack the power to detect them with this analysis.

Nalls, Michael A.; Martinez, Maria; Schulte, Claudia; Holmans, Peter; Gasser, Thomas; Hardy, John; Singleton, Andrew B.; Wood, Nicholas W.; Brice, Alexis; Heutink, Peter; Williams, Nigel; Morris, Huw R.

2012-01-01

355

Results of the spine-to-rib-cage distraction in the treatment of early onset scoliosis  

PubMed Central

Background: Growing rod systems have been used in the last 30 years for the treatment of early onset scoliosis (EOS) with variable success rates. We report the results of treatment of EOS with a newly developed hybrid rod distraction system applied to the rib cage and spine with a nonfusion technique in a prospective multicenter clinical trial. Materials and Methods: A total of 22 patients affected by progressive EOS resistant to cast and/or brace treatment were enrolled from 2004 to 2005 after informed consent into a trial of surgical treatment with a single spine-to-rib growing rod instrumentation growing spine profiler (GSP). Curves >60° Cobb in the frontal plane or bending < 50% were addressed with staged anterior annulotomy and fusion and posterior implantation of a GSP rod. Less severe and rigid curves were treated with posterior implantation of GSP only. The elongation of GSP was planned according to spinal growth. Patients were kept in a brace between elongations. Results: A total of 20 patients were available to follow-up with complete data. The mean follow up is 4.1 years. Mean age at time of initial surgery was 5 years (3–8). Nine patients had staged antero-posterior surgeries, 11 posterior only surgeries. Mean spinal growth was 1.9 cm (1.5–2.3) or 0.5 cm per year. Mean coronal Cobb's angle correction was from 56° to 45°. Major complications affected 40% of patients and included rod failure in 6/20 and crankshaft in 5/20 (all in the anteroposterior surgery group). Conclusion: Treatment of EOS with spine-to-rib growing rod in the present form provides similar correction and complication rates to those published in the series considering traditional single or dual growing rod systems. Based on this, the authors recommend revision of the GSP design and a new clinical trial to test safety and efficacy.

Teli, Marco; Lovi, Alessio; Brayda-Bruno, Marco

2010-01-01

356

Early Onset Neonatal Sepsis: The Burden of Group B Streptococcal and E. coli Disease Continues  

PubMed Central

BACKGROUND: Guidelines for prevention of group B streptococcal (GBS) infection have successfully reduced early onset (EO) GBS disease. Study results suggest that Escherichia coli is an important EO pathogen. OBJECTIVE: To determine EO infection rates, pathogens, morbidity, and mortality in a national network of neonatal centers. METHODS: Infants with EO infection were identified by prospective surveillance at Eunice Kennedy Shriver National Institute of Child Health and Human Development Neonatal Network centers. Infection was defined by positive culture results for blood and cerebrospinal fluid obtained from infants aged ?72 hours plus treatment with antibiotic therapy for ?5 days. Mother and infant characteristics, treatments, and outcomes were studied. Numbers of cases and total live births (LBs) were used to calculate incidence. RESULTS: Among 396 586 LBs (2006–2009), 389 infants developed EO infection (0.98 cases per 1000 LBs). Infection rates increased with decreasing birth weight. GBS (43%, 0.41 per 1000 LBs) and E coli (29%, 0.28 per 1000 LBs) were most frequently isolated. Most infants with GBS were term (73%); 81% with E coli were preterm. Mothers of 67% of infected term and 58% of infected preterm infants were screened for GBS, and results were positive for 25% of those mothers. Only 76% of mothers with GBS colonization received intrapartum chemoprophylaxis. Although 77% of infected infants required intensive care, 20% of term infants were treated in the normal newborn nursery. Sixteen percent of infected infants died, most commonly with E coli infection (33%). CONCLUSION: In the era of intrapartum chemoprophylaxis to reduce GBS, rates of EO infection have declined but reflect a continued burden of disease. GBS remains the most frequent pathogen in term infants, and E coli the most significant pathogen in preterm infants. Missed opportunities for GBS prevention continue. Prevention of E coli sepsis, especially among preterm infants, remains a challenge.

Hansen, Nellie I.; Sanchez, Pablo J.; Faix, Roger G.; Poindexter, Brenda B.; Van Meurs, Krisa P.; Bizzarro, Matthew J.; Goldberg, Ronald N.; Frantz, Ivan D.; Hale, Ellen C.; Shankaran, Seetha; Kennedy, Kathleen; Carlo, Waldemar A.; Watterberg, Kristi L.; Bell, Edward F.; Walsh, Michele C.; Schibler, Kurt; Laptook, Abbot R.; Shane, Andi L.; Schrag, Stephanie J.; Das, Abhik; Higgins, Rosemary D.

2011-01-01

357

Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy.  

PubMed

Distal myopathies are a heterogeneous group of disorders characterized by progressive weakness and muscular atrophy, beginning in distal limb muscles and affecting proximal limb muscles at a later stage. We studied a large German kindred with 10 affected members. Weakness and atrophy of the anterior tibial muscles started between the ages of 8 and 16 years, followed by atrophy of intrinsic hand muscles. Progression was slow, and patients retained the ability to walk until the seventh decade. Serum creatinine kinase levels were increased in the range of 150-1400 U/l. Muscle biopsies showed myopathic changes, whereas immunohistochemistry showed normal expression of marker proteins for muscular dystrophies. Patients had reduced sensation with stocking-glove distribution in the distal limbs in later life. Nerve conduction studies revealed no evidence of neuropathy. Genome-wide linkage analysis in this family revealed a new locus for distal myopathy at 9p21.2-p22.3 (multipoint logarithm of the odds ratio=4.21). By positional cloning we found a heterozygous mutation L95F in the Kelch-like homologue 9 gene, encoding a bric-a-brac Kelch protein. Molecular modelling indicated that the mutation may interfere with the interaction of the bric-a-brac domain with Cullin 3. Coimmunoprecipitation experiments confirmed that the mutation reduces association with Cullin 3 in the Kelch-like homologue 9-Cullin 3-E3 ubiquitin ligase complex, which is involved in ubiquitin-dependent protein degradation. We identified a unique form of early onset autosomal dominant distal myopathy which is associated with a Kelch-like homologue 9 mutation and interferes with normal skeletal muscle through a novel pathogenetic mechanism. PMID:20554658

Cirak, Sebahattin; von Deimling, Florian; Sachdev, Shrikesh; Errington, Wesley J; Herrmann, Ralf; Bönnemann, Carsten; Brockmann, Knut; Hinderlich, Stephan; Lindner, Tom H; Steinbrecher, Alice; Hoffmann, Katrin; Privé, Gilbert G; Hannink, Mark; Nürnberg, Peter; Voit, Thomas

2010-06-16

358

Policy implications of early onset breast cancer among Mexican-origin women  

PubMed Central

Overall, Latinas are more likely to be diagnosed with a more advanced stage of breast cancer, and are 20% more likely to die of breast cancer than non-Hispanic white women. It is estimated that from 2003–2006, $82.0 billion in direct medical care expenditures, in addition to 100,000 lives annually, could be saved by eliminating health disparities experienced by Latinos and increasing the use of up to five preventive services in the U.S. An additional 3,700 lives could be saved if 90% of women ?40 years were recently screened for breast cancer. We examined risk for breast cancer in a case-control population-based sample of Mexican-origin women in Harris County, TX (n=714), where rates of breast cancer mortality for Latina women have doubled since 1990. Half of breast cancer cases (n=119) were diagnosed before the age of 50. In a multivariable model, women with a family history of breast cancer (OR=4.3), born in Mexico and having high levels of language acculturation (OR=2.5), and without health insurance (OR=1.6) were found to have the highest risk of breast cancer. Because Mexican-origin women were found to be of high-risk for early onset pre-menopausal breast cancer, we recommend policies targeting screening, education and treatment to prevent increased disparities in mortality. The inclusion of community members and policymakers as partners in these endeavors would further safeguard against an increase in cancer health disparities, and aid in formulating a policy agenda congruent with scientifically-based, community-driven policy efforts addressing breast cancer screening, education and treatment in this vulnerable population.

Wilkinson, Anna V.; Etzel, Carol J.; Zhou, Renke; Jones, Lovell A.; Thompson, Patricia; Bondy, Melissa L.

2010-01-01

359

Maternal and early onset neonatal bacterial sepsis: burden and strategies for prevention in sub-Saharan Africa  

PubMed Central

Maternal and child health are high priorities for international development. Through a Review of published work, we show substantial gaps in current knowledge on incidence (cases per live births), aetiology, and risk factors for both maternal and early onset neonatal bacterial sepsis in sub-Saharan Africa. Although existing published data suggest that sepsis causes about 10% of all maternal deaths and 26% of neonatal deaths, these are likely to be considerable underestimates because of methodological limitations. Successful intervention strategies in resource-rich settings and early studies in sub-Saharan Africa suggest that the burden of maternal and early onset neonatal bacterial sepsis could be reduced through simple interventions, including antiseptic and antibiotic treatment. An effective way to expedite evidence to guide interventions and determine the incidence, aetiology, and risk factors for sepsis in sub-Saharan Africa would be through a multiarmed factorial intervention trial aimed at reducing both maternal and early onset neonatal bacterial sepsis in sub-Saharan Africa.

Seale, Anna C; Mwaniki, Michael; Newton, Charles R J C; Berkley, James A

2010-01-01

360

Nonsurgical periodontal therapy.  

PubMed

Regular home care by the patient in addition to professional removal of subgingival plaque is generally very effective in controlling most inflammatory periodontal diseases. When disease does recur, despite frequent recall, it can usually be attributed to lack of sufficient supragingival and subgingival plaque control or to other risk factors that influence host response, such as diabetes or smoking. Causative factors contributing to recurrent disease include deep inaccessible pockets, overhangs, poor crown margins and plaque-retentive calculus. In most cases, simply performing a thorough periodontal debridement under local anesthesia will stop disease progression and result in improvement in the clinical signs and symptoms of active disease. If however, clinical signs of disease activity persist following thorough mechanical therapy, such as increased pocket depths, loss of attachment and bleeding on probing, other pharmacotherapeutic therapies should be considered. Augmenting scaling and root planing or maintenance visits with adjunctive chemotherapeutic agents for controlling plaque and gingivitis could be as simple as placing the patient on an antimicrobial mouthrinse and/or toothpaste with agents such as fluorides, chlorhexidine or triclosan, to name a few. Since supragingival plaque reappears within hours or days after its removal, it is important that patients have access to effective alternative chemotherapeutic products that could help them achieve adequate supragingival plaque control. Recent studies, for example, have documented the positive effect of triclosan toothpaste on the long-term maintenance of both gingivitis and periodontitis patients. Daily irrigation with a powered irrigation device, with or without an antimicrobial agent, is also useful for decreasing the inflammation associated with gingivitis and periodontitis. Clinically significant changes in probing depths and attachment levels are not usually expected with irrigation alone. Recent reports, however, would indicate that, when daily irrigation with water was added to a regular oral hygiene home regimen, a significant reduction in probing depth, bleeding on probing and Gingival Index was observed. A significant reduction in cytokine levels (interleukin-1beta and prostaglandin E2, which are associated with destructive changes in inflamed tissues and bone resorption also occurs. If patient-applied antimicrobial therapy is insufficient in preventing, arresting, or reversing the disease progression, then professionally applied antimicrobial agents should be considered including sustained local drug delivery products. Other, more broadly based pharmacotherapeutic agents may be indicated for multiple failing sites. Such agents would include systemic antibiotics or host modulating drugs used in conjunction with periodontal debridement. More aggressive types of juvenile periodontitis or severe rapidly advancing adult periodontitis usually require a combination of surgical intervention in conjunction with systemic antibiotics and generally are not controlled with nonsurgical anti-infective therapy alone. It should be noted, however, that, to date, no home care products or devices currently available can completely control or eliminate the pathogenic plaques associated with periodontal diseases for extended periods of time. Daily home care and frequent recall are still paramount for long-term success. Nonsurgical therapy remains the cornerstone of periodontal treatment. Attention to detail, patient compliance and proper selection of adjunctive antimicrobial agents for sustained plaque control are important elements in achieving successful long-term results. Frequent re-evaluation and careful monitoring allows the practitioner the opportunity to intervene early in the disease state, to reverse or arrest the progression of periodontal disease with meticulous nonsurgical anti-infective therapy. PMID:11155183

Drisko, C H

2001-01-01

361

Hippocampal volume and subcortical white matter lesions in late life depression: comparison of early and late onset depression  

PubMed Central

Background Reduced hippocampal volume and increased prevalence of subcortical white matter lesions are associated with both recurrent early onset depression (EOD) and late onset depression (LOD). It is not clear whether these two factors differentially affect the age of onset of first depression. Therefore, we wished to investigate the relationship between age of first depression onset and hippocampal volume, with adjustment for subcortical white matter lesions. Methods MRI brain scans were used to compare hippocampal volumes and white matter lesions between age matched female patients (>60?years) with recurrent EOD and LOD and healthy controls. Results When comparing the three groups and adjusting for age, the Mini?Mental State Examination score, total brain volume and total hippocampal volume were significantly smaller in patients with EOD compared with controls (5.6 vs 6.1?ml; p?=?0.04). The prevalence of larger subcortical white matter lesions was higher in patients with LOD compared with patients with EOD (47% vs 8%; p?=?0.002). Patients with LOD did not differ in hippocampal volume from patients with EOD or from controls. Conclusions In late life depression, age of first depression onset may distinguish between different independent neuropathological mechanisms. A small hippocampus volume may be a neuranatomical marker of EOD depression and larger subcortical white matter lesions could be an intermediate between cerebrovascular disease and LOD.

Janssen, Joost; Pol, Hilleke E Hulshoff; de Leeuw, Frank-Erik; Schnack, Hugo G; Lampe, Indrag K; Kok, Rob M; Kahn, Rene S; Heeren, Thea J

2007-01-01

362

Early onset of hindlimb paw-shake responses in spinal kittens: new perspective in motor development.  

PubMed

Normal kittens and kittens spinalized (T12) at 14 days of age were tested for onset of paw-shake responses (PSR) in fore and hindlimbs. In normals, onset followed a cephalocaudal pattern that was coincident with the development of stable posture, 21-28 days of age. In spinals, onset of hindlimb PSRs preceded that of the forelimb and occurred soon after cordotomy, independent of posture development. These findings suggest that in the neonate, spinal networks responsible for coordinating PSRs are normally inhibited until the response can be supported by stable posture. PMID:3857098

Bradley, N S; Smith, J L

1985-01-01

363

Osteoporosis, jawbones and periodontal disease  

PubMed Central

The association between osteoporosis and jawbones remains an argument of debate. Both osteoporosis and periodontal diseases are bone resorptive diseases; it has been hypothesized that osteoporosis could be a risk factor for the progression of periodontal disease and vice versa. Hypothetical models linking the two conditions exist: in particular, it is supposed that the osteoporosis-related bone mass density reduction may accelerate alveolar bone resorption caused by periodontitis, resulting in a facilitated periodontal bacteria invasion. Invading bacteria, in turn, may alter the normal homeostasis of bone tissue, increasing osteoclastic activity and reducing local and systemic bone density by both direct effects (release of toxins) and/or indirect mechanisms (release of inflammatory mediators). Current evidence provides conflicting results due to potential biases related to study design, samples size and endpoints. The aim of this article is to review and summarize the published literature on the associations between osteoporosis and different oral conditions such as bone loss in the jaws, periodontal diseases, and tooth loss. Further well-controlled studies are needed to better elucidate the inter-relationship between systemic and oral bone loss and to clarify whether dentists could usefully provide early warning for osteoporosis risk. Key words:Osteoporosis, periodontitis, oral bone loss, tooth loss, edentulism, bone mineral density.

Guiglia, Rosario; Di-Fede, Olga; Lo-Russo, Lucio; Sprini, Delia; Rini, Giovan B.

2013-01-01

364

Fathering and Early Onset Conduct Problems: Positive and Negative Parenting, Father–Son Attachment, and the Marital Context  

Microsoft Academic Search

Research literature linking negative and positive aspects of the father–child relationship with early onset conduct problems is reviewed. Evidence from the Preschool Families Project, a longitudinal study of clinic-referred preschool boys at risk for conduct disorder, is presented, including previously unpublished data on father–child attachment. Both negative (e.g., harsh, angry, and physically punitive) and positive (involvement, warmth, and secure attachment)

Michelle DeKlyen; Matthew L. Speltz; Mark T. Greenberg

1998-01-01

365

Reactive Hyperemia and Interleukin 6, Interleukin 8, and Tumor Necrosis Factor in the Diagnosis of Early-Onset Neonatal Sepsis  

Microsoft Academic Search

Objective. To evaluate the diagnostic value of peripheral circulatory reactive hyperemia and serum levels of interleukin-6 (IL-6), IL-8, and tumor ne- crosis factor- (TNF-) in early-onset neonatal sepsis. Methods. Reactive hyperemia in the dorsal hand and serum levels of IL-6, IL-8, and TNF- were studied in newborn infants (n 32; gestational age 39 3 weeks) who had been admitted to

Helena Martin; Bodil Olander; Mikael Norman

366

Neutrophil CD11b Expression and Circulating Interleukin8 as Diagnostic Markers for Early-Onset Neonatal Sepsis  

Microsoft Academic Search

Objective. To assess neutrophil CD11b and circulating interleukin 8 (IL-8) as markers of early- onset infection in neonates. Methods. The study comprised 39 neonates, with a gestational age of 29 to 41 weeks, suspected of infection within 48 hours of life. Neutrophil surface expression of CD11b was quantified with flow cytometry and plasma IL-8 with an enzyme-linked immunosorbent assay. Both

Irmeli Nupponen; Sture Andersson; Anna-Liisa Jarvenpaa; Hannu Kautiainen; Heikki Repo

2001-01-01

367

Generation and characterization of Dyt1 ?GAG knock-in mouse as a model for early-onset dystonia  

Microsoft Academic Search

A trinucleotide deletion of GAG in the DYT1 gene that encodes torsinA protein is implicated in the neurological movement disorder of Oppenheim's early-onset dystonia. The mutation removes a glutamic acid in the carboxy region of torsinA, a member of the Clp protease\\/heat shock protein family. The function of torsinA and the role of the mutation in causing dystonia are largely

Mai T. Dang; Fumiaki Yokoi; Kevin St. P. McNaught; Toni-Ann Jengelley; Tehone Jackson; Jianyong Li; Yuqing Li

2005-01-01

368

Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy.  

PubMed

In addition to its activity in nicotinamide adenine dinucleotide (NAD(+)) synthesis, the nuclear nicotinamide mononucleotide adenyltransferase NMNAT1 acts as a chaperone that protects against neuronal activity-induced degeneration. Here we report that compound heterozygous and homozygous NMNAT1 mutations cause severe neonatal neurodegeneration of the central retina and early-onset optic atrophy in 22 unrelated individuals. Their clinical presentation is consistent with Leber congenital amaurosis and suggests that the mutations affect neuroprotection of photoreceptor cells. PMID:22842229

Perrault, Isabelle; Hanein, Sylvain; Zanlonghi, Xavier; Serre, Valérie; Nicouleau, Michael; Defoort-Delhemmes, Sabine; Delphin, Nathalie; Fares-Taie, Lucas; Gerber, Sylvie; Xerri, Olivia; Edelson, Catherine; Goldenberg, Alice; Duncombe, Alice; Le Meur, Gylène; Hamel, Christian; Silva, Eduardo; Nitschke, Patrick; Calvas, Patrick; Munnich, Arnold; Roche, Olivier; Dollfus, Hélène; Kaplan, Josseline; Rozet, Jean-Michel

2012-07-29

369

Higher incidence of diabetic nephropathy in type 2 than in type 1 diabetes in early-onset diabetes in Japan  

Microsoft Academic Search

Higher incidence of diabetic nephropathy in type 2 than in type 1 diabetes in early-onset diabetes in Japan.BackgroundWhether the type of diabetes, race, and year and age of diagnosis affect the incidence of diabetic vascular complications is unknown. That both type 1 and type 2 diabetes occur in the young Japanese population prompted us to investigate whether the type of

Hiroki Yokoyama; Maki Okudaira; Toshika Otani; Akiko Sato; Junnoske Miura; Hiroko Takaike; Hitomi Yamada; Kazuko Muto; Yasuko Uchigata; Yasuo Ohashi; Yasuhiko Iwamoto

2000-01-01

370

Is CD36 gene polymorphism in region encoding lipid-binding domain associated with early onset CAD?  

PubMed

CD36 is a fatty acid translocase in striated muscle cells and cardiomyocytes. Some study suggested that alterations in CD36 gene may be associated with coronary artery disease (CAD) risk. The aim of the current study was to compare the frequency of CD36 variants in region encoding lipid-binding domain in Caucasian patients with early-onset CAD, no-CAD adult controls and neonates. The study group comprised 100 patients with early onset CAD. The genetic control groups were 306 infants and 40 no-CAD adults aged over 70years. Exons 4, 5 and 6 including fragments of flanking introns were studied using the denaturing high-performance liquid chromatography technique and direct sequencing. Changes detected in analyzed fragment of CD36: IVS3-6 T/C (rs3173798), IVS4-10 G/A (rs3211892), C311T (Thr104Ile, not described so far) in exon 5, G550A (Asp184Asn, rs138897347), C572T (Pro191Leu, rs143150225), G573A (Pro191Pro, rs5956) and A591T (Thr197Thr, rs141680676) in exon 6. No significant differences in the CD36 genotype, allele and haplotype frequencies were found between the three groups. Only borderline differences (p=0.066) were found between early onset CAD patients and newborns in the frequencies of 591T allele (2.00% vs 0.50%) and CGCGCGT haplotype (2.00% vs 0.50%) with both IVS3-6C and 591T variant alleles. In conclusion, CD36 variants: rs3173798, rs3211892, rs138897347, rs5956, rs143150225 rs141680676 and C311T do not seem to be involved in the risk of early-onset CAD in Caucasian population. PMID:23856131

Ra?, Monika; Safranow, Krzysztof; Kurzawski, Grzegorz; Krzystolik, Andrzej; Chlubek, Dariusz

2013-07-13

371

EARLY-ONSET DEPRESSIVE DISORDERS PREDICT THE USE OF ADDICTIVE SUBSTANCES IN ADOLESCENCE: A PROSPECTIVE STUDY OF ADOLESCENT FINNISH TWINS  

PubMed Central

Aims: To explore the developmental relationships between early-onset depressive disorders and later use of addictive substances. Design, Setting, Participants: A sample of 1545 adolescent twins was drawn from a prospective, longitudinal study of Finnish adolescent twins with baseline assessments at age 14 and follow-up at age 17.5. Measurements: At baseline, DSM-IV diagnoses were assessed with a professionally administered adolescent version of Semi-Structured Assessment for Genetics of Alcoholism (C-SSAGA-A). At follow-up, substance use outcomes were assessed via self-reported questionnaire. Findings: Early-onset depressive disorders predicted daily smoking (odds ratio 2.29, 95%CI 1.49-3.50, p<.001), smokeless tobacco use (OR = 2.00, 95%CI 1.32-3.04, p=.001), frequent illicit drug use (OR = 4.71, 95%CI 1.95-11.37, p=.001), frequent alcohol use (OR = 2.02, 95%CI 1.04-3.92, p=.037) and recurrent intoxication (OR = 1.83, 95%CI 1.18-2.85, p=.007) three years later. Odds ratios remained significant after adjustment for comorbidity and exclusion of baseline users. In within-family analysis of depression-discordant co-twins (analyses that control for shared genetic and familial background factors), early-onset depressive disorders at age 14 significantly predicted frequent use of smokeless tobacco and alcohol at age 17.5. Conclusions: Our results suggest important predictive associations between early—onset depressive disorders and addictive substance use, and these associations appear to be independent of shared familial influences.

Sihvola, Elina; Rose, Richard J.; Dick, Danielle M.; Pulkkinen, Lea; Marttunen, Mauri; Kaprio, Jaakko

2008-01-01

372

Morbidity and cost burden of methicillin-resistant Staphylococcus aureus in early onset ventilator-associated pneumonia  

Microsoft Academic Search

INTRODUCTION: To gain a better understanding of the clinical and economic outcomes associated with methicillin-resistant Staphylococcus aureus (MRSA) infection in patients with early onset ventilator-associated pneumonia (VAP), we retrospectively analyzed a multihospital US database to identify patients with VAP over a 24 month period (2002–2003). METHOD: Data recorded included physiologic, laboratory, culture, and other clinical variables from 59 institutions. VAP

Andrew F Shorr; Ying P Tabak; Vikas Gupta; RS Johannes; Larry Z Liu; Marin H Kollef

2006-01-01

373

Risk Factors for Invasive, Early-Onset Escherichia coli Infections in the Era of Widespread Intrapartum Antibiotic Use  

Microsoft Academic Search

OBJECTIVE.The goal was to evaluate risk factors for invasive Escherichia coli infections in the first week of life (early onset), focusing on the role of intrapartum antibiotic use. METHODS.We conducted a retrospective case-control study. Between 1997 and 2001, case infants, defined as infants 7 days of age with E coli isolated from blood or cerebrospinal fluid, were identified in selected

Stephanie J. Schrag; James L. Hadler; Kathryn E. Arnold; Patricia Martell-Cleary; Arthur Reingold; Anne Schuchat

2010-01-01

374

The Arabidopsis onset of leaf death5 Mutation of Quinolinate Synthase Affects Nicotinamide Adenine Dinucleotide Biosynthesis and Causes Early Ageing  

Microsoft Academic Search

Leaf senescence in Arabidopsis thaliana is a strict, genetically controlled nutrient recovery program, which typically progresses in an age-dependent manner. Leaves of the Arabidopsis onset of leaf death5 (old5) mutant exhibit early developmental senescence. Here, we show that OLD5 encodes quinolinate synthase (QS), a key enzyme in the de novo synthesis of NAD. The Arabidopsis QS was previously shown to

Jos H. M. Schippers; Adriano Nunes-Nesi; Roxana Apetrei; Jacques Hille; Alisdair R. Fernie; Paul P. Dijkwel

2008-01-01

375

Components of Negative Affect As Moderators of the Relationship Between Early Drinking Onset and Binge-Drinking Behavior  

Microsoft Academic Search

This study examines the moderating effects of negative affect on the relationship between early drinking onset and binge-drinking behavior. Six hundred and thirty-five eleventh- and twelfth-grade students completed the American Drug and Alcohol Survey and reported on a variety of measures, including items assessing anxiety, anger, depression, age first drunk, and current level of binge drinking. Results indicate that males

Robert S. McNamara; Randall C. Swaim; Lee A. Rosén

2010-01-01

376

Child maltreatment and the early onset of problem behaviors: can a program of nurse home visitation break the link?  

PubMed

This study investigated the relationship between child maltreatment and the early onset of problem behaviors in the Elmira Nurse Home Visitation Program. Participants were predominantly low-income and unmarried mothers and their first-born children who were randomized either to receive over 2 years of home-visitation services by nurses or to be placed in a comparison group. Data were drawn from a follow-up study that took place when the children were 15 years of age. Results demonstrated that, in the comparison group. child maltreatment was associated with significant increases in the number of early onset problem behaviors reported by the youth. For the youth in the nurse-visited group there was no relationship between maltreatment and early onset problem behaviors. We suggest that this finding was due to the effects of the intervention in reducing the number as well as the developmental timing of the maltreatment incidents. Results suggest that prenatal and infancy home visiting by nurses can moderate the risk of child maltreatment as a predictor of conduct problems and antisocial behavior among children and youth born into at-risk families. PMID:11771912

Eckenrode, J; Zielinski, D; Smith, E; Marcynyszyn, L A; Henderson, C R; Kitzman, H; Cole, R; Powers, J; Olds, D L

2001-01-01

377

Genetic Analysis of PARK2 and PINK1 Genes in Brazilian Patients with Early-Onset Parkinson's Disease  

PubMed Central

Parkinson's disease is the second most frequent neurodegenerative disorder in the world, affecting 1-2% of individuals over the age of 65. The etiology of Parkinson's disease is complex, with the involvement of gene-environment interactions. Although it is considered a disease of late manifestation, early-onset forms of parkinsonism contribute to 5–10% of all cases. In the present study, we screened mutations in coding regions of PARK2 and PINK1 genes in 136 unrelated Brazilian patients with early-onset Parkinson's disease through automatic sequencing. We identified six missense variants in PARK2 gene: one known pathogenic mutation, two variants of uncertain role, and three nonpathogenic changes. No pathogenic mutation was identified in PINK1 gene, only benign polymorphisms. All putative pathogenic variants found in this study were in heterozygous state. Our data show that PARK2 point mutations are more common in Brazilian early-onset Parkinson's disease patients (2.9%) than PINK1 missense variants (0%), corroborating other studies worldwide.

Moura, Karla Cristina Vasconcelos; Campos Junior, Mario; de Rosso, Ana Lucia Zuma; Nicaretta, Denise Hack; Pereira, Joao Santos; Silva, Delson Jose; dos Santos, Flavia Lima; Rodrigues, Fabiola da Costa; Santos-Reboucas, Cintia Barros; Pimentel, Marcia Mattos Goncalves

2013-01-01

378

Early and Late Onset Sepsis in Very-Low-Birth-Weight Infants from a Large Group of Neonatal Intensive Care Units  

PubMed Central

Background Very-low-birth-weight (VLBW, <1500 g birth weight) infants are at high risk for both early- and late-onset sepsis. Prior studies have observed a predominance of gram-negative organisms as a cause of early-onset sepsis and gram-positive organisms as a cause of late-onset sepsis. These reports are limited to large, academic neonatal intensive care units (NICUs) and may not reflect findings in other units. The purpose of this study was to determine the risk factors for sepsis, the causative organisms, and mortality following infection in a large and diverse sample of NICUs. Methods We analyzed the results of all cultures obtained from VLBW infants admitted to 313 NICUs from 1997 to 2010. Results Over 108,000 VLBW infants were admitted during the study period. Early-onset sepsis occurred in 1032 infants, and late-onset sepsis occurred in 12,204 infants. Gram-negative organisms were the most commonly isolated pathogens in early-onset sepsis, and gram-positive organisms were most commonly isolated in late-onset sepsis. Early- and late-onset sepsis were associated with increased risk of death controlling for other confounders (odds ratio 1.45 [95% confidence interval 1.21, 1.73], and OR 1.30 [95% CI 1.21, 1.40], respectively). Conclusions This is the largest report of sepsis in VLBW infants to date. Incidence for early-onset sepsis and late-onset sepsis has changed little over this 14-year period, and overall mortality in VLBW infants with early- and late-onset sepsis is higher than in infants with negative cultures.

Hornik, Christoph P.; Fort, Prem; Clark, Reese H.; Watt, Kevin; Benjamin, Daniel K.; Smith, P. Brian; Cohen-Wolkowiez, Michael

2012-01-01

379

Use of Procalcitonin-Guided Decision-Making to Shorten Antibiotic Therapy in Suspected Neonatal Early-Onset Sepsis: Prospective Randomized Intervention Trial  

Microsoft Academic Search

Background: Diagnosis of neonatal early-onset sepsis is difficult because clinical signs and laboratory tests are non-specific. Early antibiotic therapy is crucial for treatment success. Objective: To evaluate the effect of procalcitonin (PCT)-guided decision-making on duration of antibiotic therapy in suspected neonatal early-onset sepsis. Methods: This single-center, prospective, randomized intervention study was conducted in a tertiary neonatal and pediatric intensive care

Martin Stocker; Matteo Fontana; Salhab el Helou; Karl Wegscheider; Thomas M. Berger

2010-01-01

380

Retinol Binding Protein 4 - A Novel Association with Early-Onset Preeclampsia  

PubMed Central

Objective Dysregulation of maternal circulating adipokines has been implicated in several “great obstetrical syndromes” including preeclampsia (PE), small-for-gestational age (SGA) neonate and fetal death (FD). It has been suggested that adipokines provide a molecular link between metabolic derangements and inflammatory response in complicated pregnancies. Retinol binding protein 4 (RBP4), a novel adipokine, plays a role in obesity-related disorders, as well as in the regulation of the immune response. The aim of this study was to determine whether there are changes in maternal plasma concentrations of RBP4 in patients with PE and in those with an SGA neonate or FD. Study design This cross-sectional study included patients in the following groups: 1) normal pregnancy (n=134); 2) PE (n=104); 3) SGA neonate (n=28); and 4) FD (n=37). Maternal plasma RBP4 concentrations were determined by ELISA. Non-parametric statistics were used for analysis. Results 1) The median maternal plasma RBP4 concentration was higher among patients with PE than in those with a normal pregnancy (p=0.03); 2) The median maternal plasma RBP4 concentrations of patients with preterm PE (<37 weeks) was higher than that of those with term PE (p=0.017) and than that of those with a normal pregnancy (p=0.002); 3) The median maternal plasma RBP4 concentration did not differ significantly between patients with a normal pregnancy and those with an SGA neonate or with an FD; 4) Among normal pregnant women, the maternal plasma RBP4 concentrations did not correlate with pre-pregnancy body mass index, gestational age at blood sampling and neonatal birthweight. Conclusions 1) Preeclampsia, but not pregnancy with an SGA neonate or an FD, is associated with a higher median maternal plasma concentration of RBP4 than normal pregnancy; 2) Preterm PE, and specifically early-onset PE, is associated with higher median RBP4 concentrations in maternal plasma compared to term PE. These findings suggest a role for RBP4 in the pathogenesis of preterm PE, but not in SGA and FD.

Vaisbuch, Edi; Romero, Roberto; Mazaki-Tovi, Shali; Erez, Offer; Kim, Sun Kwon; Chaiworapongsa, Tinnakorn; Gotsch, Francesca; Than, Nandor Gabor; Dong, Zhong; Pacora, Percy; Lamont, Ronald; Yeo, Lami; Hassan, Sonia S.; Kusanovic, Juan Pedro

2010-01-01

381

Periodontal Disease Part IV: Periodontal Infections  

PubMed Central

In Part IV of this article, the author describes two periodontal infections, acute necrotizing ulcerative gingivitis (trench mouth) and periodontal abscess, both acute painful conditions for which patients may seek advice from their family physician rather than their dentist.

Turnbull, Robert S.

1988-01-01

382

Effect of occult hepatitis B virus infection on the early-onset of hepatocellular carcinoma in patients with hepatitis C virus infection.  

PubMed

Although overt hepatitis B virus (HBV) infection promotes the onset of hepatocellular carcinoma (HCC) in hepatitis C virus (HCV)-infected patients, the effect of occult HBV infection remains unclear. The aim of this study was to investigate the effect of occult HBV infection on the early-onset of HCC in HCV-infected patients. A total of 173 HCC patients with HCV infection were enrolled and classified into 2 groups according to the median age of HCC onset: the early-onset group (n=91; 61.1±5.6 years) and the late-onset group (n=82; 73.8±3.7 years). Independent factors associated with the early-onset of HCC were assessed by multivariate analysis. In the overall analysis, independent risk factors for the early-onset of HCC were the white blood cell count and alanine aminotransferase level, but not the presence of HBV DNA. In a stratification analysis according to albumin levels of ?3.5 g/dl, the presence of HBV DNA was a significant independent risk factor for the early-onset of HCC (OR 145.18, 95% CI 1.38-15296.61, P=0.036), whereas the presence of antibodies against hepatitis B core antigen was not found to be a risk factor. The presence of HBV DNA was not a risk factor for the early-onset of HCC in the overall analysis. However, its presence was an independent factor for the early-onset of HCC in HCV-infected patients with an albumin level of ?3.5 g/dl. Thus, occult HBV infection may accelerate hepatocarcino-genesis in HCV-infected patients with relatively low carcinogenic potential. PMID:23982634

Nakano, Masahito; Kawaguchi, Takumi; Nakamoto, Shingo; Kawaguchi, Atsushi; Kanda, Tatsuo; Imazeki, Fumio; Kuromatsu, Ryoko; Sumie, Shuji; Satani, Manabu; Yamada, Shingo; Torimura, Takuji; Kakuma, Tatsuyuki; Yokosuka, Osamu; Sata, Michio

2013-08-27

383

Tooth loss in aggressive periodontitis: a systematic review.  

PubMed

Aggressive periodontitis (AgP) is thought to have a faster rate of progression than chronic periodontitis (CP). However, there is a lack of studies systematically investigating disease progression and tooth loss in AgP. A systematic search of the literature was conducted by two independent reviewers for longitudinal studies including patients with AgP (previously known as 'periodontosis', 'juvenile' or 'early-onset' periodontitis) indicating measures of disease progression. Ovid MEDLINE(®) and Embase databases were searched for at least 5-year longitudinal human studies in AgP patients. In total, 16 studies were included in the review, from an initial search of 1,601 titles. Heterogeneity was detected for disease definition and clinical data reporting; hence meta-analysis was feasible only for the objective measure 'tooth loss'. The average tooth loss for all AgP cases was 0.09 (95% C.I. = 0.06-0.16) per patient-year. The corresponding values by diagnosis were 0.05, 0.14, and 0.12 tooth loss per patient-year, respectively, for LAgP, GAgP, and un-specified AgP. For studies reporting tooth loss during the 'observational period' (excluding extractions at initial therapy), the average tooth loss for AgP was 0.09 per patient-year. High heterogeneity was detected for these analyses. In conclusion, most studies report good long-term stability of treated AgP cases. PMID:23955159

Nibali, L; Farias, B C; Vajgel, A; Tu, Y K; Donos, N

2013-08-16

384

Neurological soft signs in OCD patients with early age at onset, versus patients with schizophrenia and healthy subjects.  

PubMed

Compelling evidence suggests that both schizophrenia and obsessive compulsive disorder (OCD) are related to deviant neurodevelopment. Neurological soft signs (NSS) have been proposed to be a marker of abnormal brain development in schizophrenia. The purpose of this study is to examine whether NSS are also a marker in patients with OCD, in particular, in early-onset OCD. The authors included 162 subjects and compared patients with OCD, patients with schizophrenia (SCZ), and healthy control subjects. They were all examined for NSS (Krebs' Scale), extrapyramidal symptoms (Simpson-Angus Scale), and were rated on the Abnormal Involuntary Movements Scale (AIMS). The authors found no differences between NSS total scores and subscores in OCD versus controls, whereas total NSS, motor coordination, and motor integration were significantly lower in OCD than in SCZ. OCD patients with early-onset (before age 13) did not differ from those with later-onset OCD. These results support the idea that NSS, as determined by current scales, is relatively specific to schizophrenia, although they do not preclude the existence of a neurological dysfunction in OCD. Further studies are required to determine the type of neurological signs that could be useful trait-markers in the phenotypic characterization of subtype OCD. PMID:22231312

Jaafari, Nematollah; Baup, Nicolas; Bourdel, Marie-Chantal; Olié, Jean-Pierre; Rotge, Jean-Yves; Wassouf, Issa; Sharov, Igor; Millet, Bruno; Krebs, Marie-Odile

2011-01-01

385

Early onset binge eating and purging eating disorders: course and outcome in a population-based study of adolescents.  

PubMed

This study aimed to describe the course of early onset eating disorders in a population-based sample followed from 14 to 20 years; identify variables that could account for the persistence of eating disorders from 14 to 20 years; and describe outcome of early onset eating disorders with reference to general and psychological functioning at age 20. Participants (N?=?1,383; 49 % male) were drawn from the Western Australian Pregnancy Cohort (Raine) Study, which has followed children from pre-birth to young adulthood. Eating disorder symptoms were assessed using an adapted version of the Eating Disorder Examination-Questionnaire, at ages 14, 17 and 20. At age 14, 70 participants met DSM-IV criteria for a binge eating or purging eating disorder. Nearly half (44 %) of these adolescents ceased to meet criteria for an eating disorders at ages 17 and 20, whilst one-quarter still met criteria for an eating disorder at age 20 and one-fifth met criteria for an eating disorder at all three time points. Purging at age 17 and externalising behaviour problems at age 14 were the strongest predictors of eating disorder persistence to age 20. Participants who experienced a persistent eating disorder were less likely to complete high school than other participants, and reported pronounced depressive and anxiety symptoms at age 20. This study provides new data the course and outcome of early onset eating disorders at a population level. Behavioural difficulties in early adolescence and purging in middle adolescence may predict persistent eating pathology to young adulthood. PMID:23605960

Allen, Karina L; Byrne, Susan M; Oddy, Wendy H; Crosby, Ross D

2013-10-01

386

Female Juvenile Offenders: Defining an Early-Onset Pathway for Delinquency  

ERIC Educational Resources Information Center

We examined whether childhood factors predict age of first arrest in adolescent girls referred for placement and treatment for serious delinquency problems (N = 62). Measures included child characteristics (i.e., age of menstrual onset, childhood ADHD, and IQ), family environmental factors (i.e., severe punishment, parental transitions, and sexual…

Leve, Leslie D.; Chamberlain, Patricia

2004-01-01

387

Childhood sleep problems, early onset of substance use and behavioral problems in adolescence  

Microsoft Academic Search

BackgroundVery few prospective studies examine the relationship between childhood sleep problems and subsequent substance use. In this study, we examined how sleep problems at ages 3–8 predicted onset of alcohol, cigarette, and marijuana use in adolescence. We also investigated the relationships between childhood sleep problems and adolescent internalizing and externalizing problems.

Maria M. Wong; Kirk J. Brower; Robert A. Zucker

2009-01-01

388

Implications of Early Versus Late Onset of Attention-Deficit\\/Hyperactivity Disorder Symptoms  

Microsoft Academic Search

ObjectiveThe current diagnostic criteria for attention-deficit\\/hyperactivity disorder (ADHD) require that symptoms emerge prior to age 7 in order for a formal diagnosis to be considered. However, this age-of-onset criterion (AOC) has recently been questioned on both theoretical and empirical grounds.

MICHAEL T. WILLOUGHBY; PATRICK J. CURRAN; E. JANE COSTELLO; ADRIAN ANGOLD

2000-01-01

389

Female Juvenile Offenders: Defining an Early-Onset Pathway for Delinquency  

Microsoft Academic Search

We examined whether childhood factors predict age of first arrest in adolescent girls referred for placement and treatment for serious delinquency problems (N = 62). Measures included child characteristics (i.e., age of menstrual onset, childhood ADHD, and IQ), family environmental factors (i.e., severe punishment, parental transitions, and sexual abuse), biological parent criminality, and juvenile court records. Parental transitions and biological

Leslie D. Leve; Patricia Chamberlain

2004-01-01

390

Early-Onset Psychoses: Comparison of Clinical Features and Adult Outcome in 3 Diagnostic Groups  

ERIC Educational Resources Information Center

|A comparison of clinical features and adult outcome in adolescents with three types of psychotic disorders: schizophrenic (SPh), schizoaffective (SA) and bipolar with psychotic features (BPP). Subjects (n = 41) were finally diagnosed (DSM-IV criteria) with SPh (n = 17), SA (n = 11) or BPP (n = 13). Clinical evaluation took place at onset and at a…

Ledda, Maria Giuseppina; Fratta, Anna Lisa; Pintor, Manuela; Zuddas, Alessandro; Cianchetti, Carlo

2009-01-01

391

A longitudinal study of differences in late- and early-onset geriatric depression: Depressive symptoms and psychosocial, cognitive, and neurological functioning  

Microsoft Academic Search

Objectives: Studies suggest early-onset depression (EOD) is associated with a more severe course of the depressive disorder, while late-onset depression (LOD) is associated with more cognitive and neuroimaging changes. This study examined if older adults with EOD, compared with those with LOD, would exhibit more severe symptoms of depression and, consistent with the glucocorticoid cascade hypothesis, have more hippocampal volume

Natalie Sachs-Ericsson; Elizabeth Corsentino; Jerad Moxley; Jennifer L. Hames; Nicole C. Rushing; Kathryn Sawyer; Thomas Joiner; Edward A. Selby; Steven Zarit; Ian H. Gotlib; David C. Steffens

2012-01-01

392

Long-Term implications of early onset in bipolar disorder: data from the first 1000 participants in the systematic treatment enhancement program for bipolar disorder (STEP-BD)  

Microsoft Academic Search

BackgroundEarly onset of mood symptoms in bipolar disorder has been associated with poor outcome in many studies; however, the factors that might contribute to poor outcome have not been adequately investigated.

Roy H. Perlis; Sachiko Miyahara; Lauren B. Marangell; Stephen R. Wisniewski; Michael Ostacher; Melissa P. DelBello; Charles L. Bowden; Gary S. Sachs; Andrew A. Nierenberg

2004-01-01

393

Specific downregulation of presenilin 2 gene expression is prominent during early stages of sporadic late-onset Alzheimer's disease.  

PubMed

Mutations in the presenilin genes PS1 and PS2 cause familial Alzheimer's disease (AD). In a previous study, we reported that PS2 mRNA levels are decreased in the hippocampus, frontal cortex and basal forebrain of subjects with late-onset sporadic AD. In this study, we examined whether this downregulation occurs as the disease progresses from mild to severe stages or whether downregulation of PS2 expression is an early event in AD. We used in situ hybridization histochemistry to quantify the level of expression of PS2 message in the hippocampus of normal subjects and subjects with mild, moderate or severe AD. Several regions of the hippocampus which are sequentially susceptible to AD neuropathology as the disease progresses in severity were analyzed. We demonstrate that specific downregulation of PS2 expression is as severe in subjects with mild AD as it is in subjects in late stages of the disease. In addition, we show that hippocampal regions that are relatively free of AD neuropathology during early stages of the disease exhibit severely compromised PS2 mRNA levels even in mild AD cases. In contrast, PS2 is expressed at normal levels in the cerebellum, a region which succumbs to significantly fewer AD-related insults even at very advanced stages of the disease. These results suggest that the specific downregulation of PS2 gene expression is an early event in sporadic late-onset AD. PMID:10891593

McMillan, P J; Leverenz, J B; Dorsa, D M

2000-05-31

394

Early onset dystonia decreasing with development. Case report of two children with familial myoclonic dystonia.  

PubMed

Two related girls had the onset of unilateral leg dystonia in the neonatal period and at 13 months, respectively. The dystonic signs subsided with motor development and resolved completely in one of the girls by the age of 5 years. There was no response to L-dopa. From 2-3 years of age segmental myoclonus with a shoulder girdle distribution appeared. Family investigation results were compatible with autosomal dominant myoclonic dystonia responsive to alcohol. The onset and resolution of dystonia have not been described previously. This disorder is genetically separate from torsion dystonia. No linkage has been found to the dopamine beta-hydroxylase gene locus. Genetically determined disorders of neurotransmission may add to our knowledge of the normal development of motor control and thus merit further study. PMID:8250153

Kyllerman, M; Sanner, G; Forsgren, L; Holmgren, G; Wahlström, J

395

Risks of new-onset allergic sensitization and airway inflammation after early age swimming in chlorinated pools.  

PubMed

RATIONALE: Irritant chlorination products in swimming pools can cause respiratory problems in swimmers but their possible implication in allergies development is still unclear. OBJECTIVES: To assess prospectively whether early-life attendance at chlorinated pools increases the risks of IgE sensitization and of airways inflammation later during childhood. METHODS: We conducted a two-year prospective study among 196 kindergarten children (mean age of 5.7 years, 54% of boys). We measured exhaled nitric oxide (eNO) and aeroallergen-specific IgE in nasal mucosa. Parents completed a questionnaire about the child's health, chlorinated pool attendance and potential confounders. MAIN RESULTS: Ever swimming at indoor or outdoor chlorinated pools before the age of three years was associated with higher odds for new-onset IgE sensitization to house dust mite (adjusted odds ratio [aOR] 2.93, 95% confidence interval [CI] 1.14-7.55) and for new-onset increased eNO (>15ppb; aOR, 4.54, 95% CI 1.48-13.9). For both outcomes, aORs increased dose-dependently with time spent in chlorinated pools with values reaching, respectively, 3.60 (95% CI 1.21-10.7) and 5.92 (95% CI 1.72-20.5) when the cumulative pool attendance exceeded 60h These risks appeared independently of each other, of parental history of allergies and of pre-existing diseases, including eczema, which at baseline was more prevalent in early swimmers (aOR, 2.91; 95% CI 1.23-6.89). Such associations were not seen with IgE sensitization to pollen or cat allergens. CONCLUSION: Attendance at chlorinated swimming pools in early life is associated with higher risks of new-onset airways inflammation and IgE sensitization to house dust mite, independently of other risk factors. PMID:23601779

Voisin, Catherine; Sardella, Antonia; Bernard, Alfred

2013-03-21

396

Predicting onset of cannabis use in early adolescence: the interrelation between high-intensity pleasure and disruptive behavior. The TRAILS Study  

Microsoft Academic Search

OBJECTIVE: Increased knowledge about the mechanisms by which some individuals are at risk for early onset of cannabis use might contribute to the improvement of prevention efforts. We focus on the roles of early-adolescent high-intensity pleasure, disruptive behavior, and their interplay in the prediction of onset of cannabis use 2 years later. METHOD: Data from 81% (n = 1,804) of

H. E. Creemers; P. A. C. van Lier; W. A. M. Vollebergh; J. Ormel; F. C. Verhulst; A. C. Huizink

2009-01-01

397

Predicting onset of cannabis use in early adolescence: the interrelation between high-intensity pleasure and disruptive behavior: the TRAILS study  

Microsoft Academic Search

Objective: Increased knowledge about the mechanisms by which some individuals are at risk for early onset of cannabis use might contribute to the improvement of prevention efforts. We focus on the roles of early-adolescent high-intensity pleasure, disruptive behavior, and their interplay in the prediction of onset of cannabis use 2 years later. Method: Data from 81% (n = 1,804) of

H. E. Creemers; Lier van P. A. C; W. A. M. Vollebergh; J. Ormel; F. C. Verhulst; A. C. Huizink

2009-01-01

398

Adolescent and Young Adult Substance Abuse: Association with Sensation Seeking, Self Esteem and Retrospective Report of Early Pubertal Onset. A Preliminary Examination  

Microsoft Academic Search

Structured questionnaires were administered to investigate the relationship between early pubertal onset, substance abuse, sensation seeking, and self-esteem. The current study presents data from 1,002 subjects, who were followed from the 6th to the 10th grades and again at the age of 20. In females, early pubertal onset was associated with greater cigarette use and lower self-esteem. Further the interaction

Catherine A. Martin; T. K. Logan; Carl Leukefeld; Rich Milich; Hatim Omar; Richard Clayton

2001-01-01

399

The Homozygous Ganglioside-Induced Differentiation-Associated Protein 1 Mutation c.373C > T Causes a Very Early-Onset Neuropathy: Case Report and Literature Review  

Microsoft Academic Search

Mutations in the ganglioside-induced differentiation-associated protein 1 (GDAP1) gene may cause severe early-onset inherited neuropathies. Here, the authors report a clinical and neurophysiological follow-up of a Pakistani child with a very early-onset neuropathy carrying a novel homozygous mutation in the GDAP1gene. They discuss the relationship between the several forms of Charcot-Marie-Tooth disease presenting in the first months of life and

Carlo Fusco; Valentina Ucchino; Giovanni Barbon; Elena Bonini; Maria Luisa Mostacciuolo; Daniele Frattini; Francesco Pisani; Elvio Della Giustina

2011-01-01

400

A missense mutation disrupting a dibasic prohormone processing site in pro-opiomelanocortin (POMC) increases susceptibility to early-onset obesity through a novel molecular mechanism  

Microsoft Academic Search

The functional loss of both alleles of the human pro-opiomelanocortin (POMC) gene leads to a very rare syndrome of hypoadrenalism, red hair and early-onset obesity. In order to examine whether more subtle genetic variants in POMC might contribute to early-onset obesity, the coding region of the gene was sequenced in 262 Caucasian subjects with a history of severe obesity from

Benjamin G. Challis; Lynn E. Pritchard; John W. M. Creemers; Jerome Delplanque; Julia M. Keogh; Nicholas J. Wareham; Giles S. H. Yeo; Sumit Bhattacharyya; Phillipe Froguel; Anne White; I. Sadaf Farooqi; Stephen O'Rahilly

2002-01-01

401

Hypersensitivity to Paracetamol in Asian Children with Early Onset of Nonsteroidal Anti-Inflammatory Drug Allergy  

Microsoft Academic Search

Background: The published incidence of paracetamol cross-reactivity in adults and adolescents with nonsteroidal anti-inflammatory drug (NSAID) reactions is low and all data on such reactions in young children is sparse. The study aim was to characterize the clinical presentation and cross-reactivity with paracetamol in patients with a reported onset of NSAID hypersensitivity before 6 years of age. Methods: A retrospective

Mona Iancovici Kidon; Woei Kang Liew; Wen Chin Chiang; Siok Hoon Lim; Anne Goh; Jenny Poh Lin Tang; Oh Moh Chay

2007-01-01

402

Replacement therapy in Mucopolysaccharidosis type VI: advantages of early onset of therapy  

Microsoft Academic Search

This study evaluates the immunological response following weekly 2h infusions of recombinant human N-acetylgalactosamine 4-sulfatase (rh4S) in Mucopolysaccharidosis VI (MPS VI) cats. The results of three trials (Trial “A”: 9 month duration with onset at 3–5 months of age, n=5; and Trials “B” and “C”: 6 month duration starting at birth, n=9) were compared. No detrimental effects were noted throughout

Dyane Auclair; John J. Hopwood; Douglas A. Brooks; Jeffrey F. Lemontt; Allison C. Crawley

2003-01-01

403

Can VEPTR ® Control Progression of Early-onset Kyphoscoliosis?: A Cohort Study of VEPTR ® Patients With Severe Kyphoscoliosis  

Microsoft Academic Search

Background  Kyphoscoliosis is considered a relative contraindication to treatment with the Vertical Expandable Prosthetic Titanium Rib\\u000a (VEPTR®; Synthes Inc, Paoli, PA). Nevertheless, patients do present with early-onset kyphoscoliosis and thoracic insufficiency syndrome,\\u000a and no suitable alternative treatments are currently available. However, it is unclear whether VEPTR® is reasonable for treating patients with kyphoscoliosis.\\u000a \\u000a \\u000a \\u000a \\u000a Questions\\/purposes  We determined whether VEPTR® controls progression in patients

Kent Reinker; James W. Simmons; Vishwas Patil; Zachary Stinson

2011-01-01

404

Early-onset dementia and extrapyramidal disease: clinicopathological variant of Gerstmann-Straussler-Scheinker or Alzheimer's disease?  

PubMed Central

A case of progressive dementia and extrapyramidal signs beginning at age 29, with a ten year course until death, is presented. Necropsy examination showed an assortment of plaque types (including striatal plaques), neurofibrillary tangles, granulovacuolar degeneration, and depigmentation of the substantia nigra and locus ceruleus. This case had pathological features found in both Gerstmann-Straussler-Scheinker disease and in Alzheimer's disease. While somewhat similar to several other cases with features of both diseases, it differs in the presence of dystonia and striatal plaques. Although such cases may be difficult to categorize at present, they must be considered in the differential diagnosis of early onset dementia. Images

Hart, J; Gordon, B

1990-01-01

405

Fluorodeoxyglucose-Positron Emission Tomography in the differential diagnosis of early-onset dementia: a prospective, community-based study  

PubMed Central

Background The aim of this study was to evaluate the diagnostic accuracy of positron emission tomography (PET) using F18 fluorodeoxyglucose (FDG) in the differential diagnosis of early-onset Alzheimer's disease (AD) and other dementias in a community-dwelling population. Methods A prospective sample of 102 individuals presenting consecutively to a primary care centre for examination of suspected early-onset dementing diseases. The mean age of symptom onset of dementia in our patients was 60.06 ± 4.28 years (mean ± 1SD, 95% lower confidence intervals (CI) 54.75, upper 63.37). Patients were evaluated using standard clinical criteria for the diagnosis of dementia. Functional neuroimaging data was obtained and nuclear medicine physicians blind to the clinical diagnosis generated FDG-PET diagnoses. Final clinical diagnoses based on all available data were then established and compared against PET diagnoses. Results Forty-nine patients received a final clinical diagnosis of early-stage AD (MMSE score 20.97 ± 5.10). There were 29 non-AD demented patients, 11 depressed patients and a miscellaneous group of 13 patients. Among patients with AD, the sensitivity and specificity of FDG-PET was 78% (95% CI: 66–90%) and 81% (95% CI: 68–86%), respectively. The positive likelihood ratio (PLR) for a FDG-PET scan positive for the diagnosis of AD was 4.11 (95% CI: 2.29–7.32) and negative likelihood ratio (NLR) for a negative FDG-PET scan in the absence of AD was 0.27 (95% CI: 0.16–0.46). The pre-test probability was 48% and post-test probability was 79.02%. The specificity of FDG-PET in the differential diagnosis of other dementias, including frontotemporal dementia, was greater than 95%. Recruitment methods in this study provide a sample that may be more representative of patients in the general population and indicate that FDG-PET imaging can contribute to the diagnosis of AD in younger adults with major increases in the positive likelihood rates and post-test probability. Conclusion The high specificity of FDG-PET suggests this technique might help in the diagnosis of frontotemporal dementia and other forms of early-onset dementia.

Panegyres, Peter K; Rogers, Jeffrey M; McCarthy, Michael; Campbell, Andrew; Wu, Jing Shan

2009-01-01

406

Development of a novel intraoral measurement device to determine the biomechanical characteristics of the human periodontal ligament  

Microsoft Academic Search

Periodontal diseases like gingivitis and periodontitis have damaging effects on the periodontium and commonly affect the mechanical properties of the periodontal ligament (PDL), which in the end might lead to loss of teeth. Monitoring tooth mobility and changes of the material properties of the PDL might help in early diagnosis of periodontal diseases and improve their prognosis. It was the

M. Drolshagen; L. Keilig; I. Hasan; S. Reimann; J. Deschner; K. T. Brinkmann; R. Krause; M. Favino; C. Bourauel

2011-01-01

407

Age at the onset of senescence in birds and mammals is predicted by early-life performance  

PubMed Central

Life-history theory predicts that traits involved in maturity, reproduction and survival correlate along a fast–slow continuum of life histories. Evolutionary theories and empirical results indicate that senescence-related traits vary along this continuum, with slow species senescing later and at a slower pace than fast species. Because senescence patterns are typically difficult to estimate from studies in the wild, here we propose to predict the associated trait values in the frame of life-history theory. From a comparative analysis based on 81 free-ranging populations of 72 species of birds and mammals, we find that a nonlinear combination of fecundity, age at first reproduction and survival over the immature stage can account for ca two-thirds of the variance in the age at the onset of actuarial senescence. Our life-history model performs better than a model predicting the onset based on generation time, and it only includes life-history traits during early life as explanatory variables, i.e. parameters that are both theoretically expected to shape senescence and are measurable within relatively short studies. We discuss the good-fit of our life-history model to the available data in the light of current evolutionary theories of senescence. We further use it to evaluate whether studies that provided no evidence for senescence lasted long enough to include the onset of senescence.

Peron, Guillaume; Gimenez, Olivier; Charmantier, Anne; Gaillard, Jean-Michel; Crochet, Pierre-Andre

2010-01-01

408

Age at the onset of senescence in birds and mammals is predicted by early-life performance.  

PubMed

Life-history theory predicts that traits involved in maturity, reproduction and survival correlate along a fast-slow continuum of life histories. Evolutionary theories and empirical results indicate that senescence-related traits vary along this continuum, with slow species senescing later and at a slower pace than fast species. Because senescence patterns are typically difficult to estimate from studies in the wild, here we propose to predict the associated trait values in the frame of life-history theory. From a comparative analysis based on 81 free-ranging populations of 72 species of birds and mammals, we find that a nonlinear combination of fecundity, age at first reproduction and survival over the immature stage can account for ca two-thirds of the variance in the age at the onset of actuarial senescence. Our life-history model performs better than a model predicting the onset based on generation time, and it only includes life-history traits during early life as explanatory variables, i.e. parameters that are both theoretically expected to shape senescence and are measurable within relatively short studies. We discuss the good-fit of our life-history model to the available data in the light of current evolutionary theories of senescence. We further use it to evaluate whether studies that provided no evidence for senescence lasted long enough to include the onset of senescence. PMID:20427343

Péron, Guillaume; Gimenez, Olivier; Charmantier, Anne; Gaillard, Jean-Michel; Crochet, Pierre-André

2010-04-28

409

Mapping adolescent brain change reveals dynamic wave of accelerated gray matter loss in very early-onset schizophrenia  

PubMed Central

Neurodevelopmental models for the pathology of schizophrenia propose both polygenetic and environmental risks, as well as early (pre/perinatal) and late (usually adolescent) developmental brain abnormalities. With the use of brain mapping algorithms, we detected striking anatomical profiles of accelerated gray matter loss in very early-onset schizophrenia; surprisingly, deficits moved in a dynamic pattern, enveloping increasing amounts of cortex throughout adolescence. Early-onset patients were rescanned prospectively with MRI, at 2-year intervals at three time points, to uncover the dynamics and timing of disease progression during adolescence. The earliest deficits were found in parietal brain regions, supporting visuospatial and associative thinking, where adult deficits are known to be mediated by environmental (nongenetic) factors. Over 5 years, these deficits progressed anteriorly into temporal lobes, engulfing sensorimotor and dorsolateral prefrontal cortices, and frontal eye fields. These emerging patterns correlated with psychotic symptom severity and mirrored the neuromotor, auditory, visual search, and frontal executive impairments in the disease. In temporal regions, gray matter loss was completely absent early in the disease but became pervasive later. Only the latest changes included dorsolateral prefrontal cortex and superior temporal gyri, deficit regions found consistently in adult studies. These emerging dynamic patterns were (i) controlled for medication and IQ effects, (ii) replicated in independent groups of males and females, and (iii) charted in individuals and groups. The resulting mapping strategy reveals a shifting pattern of tissue loss in schizophrenia. Aspects of the anatomy and dynamics of disease are uncovered, in a changing profile that implicates genetic and nongenetic patterns of deficits.

Thompson, Paul M.; Vidal, Christine; Giedd, Jay N.; Gochman, Peter; Blumenthal, Jonathan; Nicolson, Robert; Toga, Arthur W.; Rapoport, Judith L.

2001-01-01

410

Mapping adolescent brain change reveals dynamic wave of accelerated gray matter loss in very early-onset schizophrenia.  

PubMed

Neurodevelopmental models for the pathology of schizophrenia propose both polygenetic and environmental risks, as well as early (pre/perinatal) and late (usually adolescent) developmental brain abnormalities. With the use of brain mapping algorithms, we detected striking anatomical profiles of accelerated gray matter loss in very early-onset schizophrenia; surprisingly, deficits moved in a dynamic pattern, enveloping increasing amounts of cortex throughout adolescence. Early-onset patients were rescanned prospectively with MRI, at 2-year intervals at three time points, to uncover the dynamics and timing of disease progression during adolescence. The earliest deficits were found in parietal brain regions, supporting visuospatial and associative thinking, where adult deficits are known to be mediated by environmental (nongenetic) factors. Over 5 years, these deficits progressed anteriorly into temporal lobes, engulfing sensorimotor and dorsolateral prefrontal cortices, and frontal eye fields. These emerging patterns correlated with psychotic symptom severity and mirrored the neuromotor, auditory, visual search, and frontal executive impairments in the disease. In temporal regions, gray matter loss was completely absent early in the disease but became pervasive later. Only the latest changes included dorsolateral prefrontal cortex and superior temporal gyri, deficit regions found consistently in adult studies. These emerging dynamic patterns were (i) controlled for medication and IQ effects, (ii) replicated in independent groups of males and females, and (iii) charted in individuals and groups. The resulting mapping strategy reveals a shifting pattern of tissue loss in schizophrenia. Aspects of the anatomy and dynamics of disease are uncovered, in a changing profile that implicates genetic and nongenetic patterns of deficits. PMID:11573002

Thompson, P M; Vidal, C; Giedd, J N; Gochman, P; Blumenthal, J; Nicolson, R; Toga, A W; Rapoport, J L

2001-09-25

411

The relationship between childhood conduct disorder and adult antisocial behavior is partially mediated by early-onset alcohol abuse.  

PubMed

Early-onset alcohol abuse (EOAA) was previously found to both mediate and moderate the effect of childhood conduct disorder (CD) on adult antisocial behavior (ASB) in an American community sample of young adults (Howard, R., Finn, P. R., Gallagher, J., & Jose, P. (2011). Adolescent-onset alcohol abuse exacerbates the influence of childhood conduct disorder on late adolescent and early adult antisocial behavior. Journal of Forensic Psychiatry and Psychology. Advance online publication. doi:10.1080/14789949.2011.641996). This study tested whether this result would generalize to a British forensic sample comprising 100 male forensic patients with confirmed personality disorder. Results confirmed that those in whom EOAA co-occurred with CD showed the highest level of personality pathology, particularly Cluster B traits and antisocial/borderline comorbidity. Those with co-occurring CD with EOAA, compared with those showing only CD, showed more violence in their criminal history and greater recreational drug use. Regression analysis showed that both EOAA and CD predicted adult ASB when covariates were controlled. Further analysis showed that EOAA significantly mediated but did not moderate the effect of CD on ASB. The failure to demonstrate an exacerbating effect of EOAA on the relationship between CD and ASB likely reflects the high prevalence of CD in this forensic sample. Some implications of these findings are discussed. PMID:22888992

Khalifa, Najat; Duggan, Conor; Howard, Rick; Lumsden, John

2012-08-13

412

Favorable outcome in a fetus with an early-onset extensive cystic hygroma colli and intralesional hemorrhage.  

PubMed

We present a rare occurrence of an early-onset extensive cystic hygroma colli with intralesional hemorrhage and a favorable outcome. A 23-year-old primigravida woman was referred for management of a left isolated extensive cystic hygroma colli at 22 weeks' gestation. Amniocentesis revealed a 46, XY karyotype. Ultrasound-guidance in utero paracentesis was performed weekly or fortnightly from 22 to 36 gestational weeks. The aspirated fluid was chocolate-colored and contained abundant lymphocytes, erythrocytes, and protein. Despite multiple aspirations, the fetal cystic hygroma colli increased in size from 5.2x4.2 cm at 22 weeks' gestation to 9x9.7 cm at 36 weeks' gestation. The woman underwent cesarean section at 36 week's gestation and a-2808 g neonate was born with a 10x6 cm left neck mass, which did not impair spontaneous normal respiration. At the age of 4 days, the neonate underwent simple excision of the cystic hygroma, which was confined to the anterior superficial neck. The neonate was discharged 4 days after operation in good condition. In the present case, in utero paracentesis did not prevent the progressive growth of an early-onset extensive cystic hygroma colli with intralesional hemorrhage. However, lack of extension of the lesion into the surrounding structures and successful postnatal surgery contributed to the favorable outcome of this patient. PMID:10064200

Chen, C P; Wang, W; Lin, S P; Sheu, J C; Tzen, C Y

1998-01-01

413

The analysis of BRCA1 mutations in eastern Chinese patients with early onset breast cancer and affected relatives.  

PubMed

To study the BRCA1 mutations in eastern Chinese patients with early onset breast cancer and affected relatives, 41 patients' genomic DNA from peripheral mononuclear blood cells was studied by using single strand conformational polymorphism (SSCP) and DNA sequencing. The BRCA1 mutations were detected in the whole gene sequence. Three novel disease-causing mutations (c.582C>T, c.735C>T and c.2790delT) occurred in all the patients. Two occurred in the patients younger than 35 years old (9.1%) and one in the patients with affected relatives (5%). Additional sequence variants identified included a novel missense mutation of unknown significance and six polymorphisms. The prevalence of BRCA1 mutations in Chinese patients in Shanghai with early onset breast cancer is similar to that observed in western women, but the incidence of mutations in breast cancer patients in Shanghai with affected relatives isn't as high as that in western women. PMID:12815604

Hu, Zhen; Wu, Jiong; Liu, Can-Hui; Lu, Jing-Song; Luo, Jian-Ming; Han, Qi-Xia; Shen, Zhen-Zhou; Shao, Zhi-Ming

2003-07-01

414

Co-Morbidity between Early-Onset Leukemia and Type 1 Diabetes - Suggestive of a Shared Viral Etiology?  

PubMed Central

Background Acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML) are common early-onset malignancies. Their causes are largely unknown but infectious etiology has been implicated. Type 1 diabetes (T1D) is an autoimmune disease for which infectious triggers of disease onset have been sought and increasing pointing to enteroviruses. Based on our previous results on co-morbidity between leukemia and T1D, we updated the Swedish dataset and focused on early onset leukemias in patients who had been hospitalized for T1D, comparing to those not hospitalized for T1D. Methods and Findings Standardized incidence ratios (SIRs) were calculated for leukemia in 24,052 patients hospitalized for T1D covering years 1964 through 2008. T1D patients were included if hospitalized before age 21 years. Practically all Swedish children and adolescents with T1D are hospitalized at the start of insulin treatment. SIR for ALL was 8.30 (N?=?18, 95% confidence interval 4.91–13.14) when diagnosed at age 10 to 20 years after hospitalization for T1D and it was 3.51 (13, 1.86–6.02) before hospitalization for T1D. The SIR for ALL was 19.85 (N?=?33, 13.74–27.76) and that for AML was 25.28 (8, 10.80–50.06) when the leukemias were diagnosed within the year of T1D hospitalization. The SIRs increased to 38.97 (26, 25.43–57.18) and 40.11 (8, 17.13–79.42) when T1D was diagnosed between ages 10 to 20 years. No consistent time-dependent changes were found in leukemia risk. Conclusion A shared infectious etiology could be a plausible explanation to the observed co-morbidity. Other possible contributing factors could be insulin therapy or T1D related metabolic disturbances.

Hemminki, Kari; Houlston, Richard; Sundquist, Jan; Sundquist, Kristina; Shu, Xiaochen

2012-01-01

415

Mutations in the potassium channel subunit KCNE1 are associated with early-onset familial atrial fibrillation  

PubMed Central

Background Atrial fibrillation (AF) is the most common arrhythmia. The potassium current IKs is essential for cardiac repolarization. Gain-of-function mutations in KV7.1, the pore-forming ?-subunit of the IKs channel, have been associated with AF. We hypothesized that early-onset lone AF is associated with mutations in the IKs channel regulatory subunit KCNE1. Methods In 209 unrelated early-onset lone AF patients (< 40 years) the entire coding sequence of KCNE1 was bidirectionally sequenced. We analyzed the identified KCNE1 mutants electrophysiologically in heterologous expression systems. Results Two non-synonymous mutations G25V and G60D were found in KCNE1 that were not present in the control group (n = 432 alleles) and that have not previously been reported in any publicly available databases or in the exom variant server holding exom data from more than 10.000 alleles. Proband 1 (female, age 45, G25V) had onset of paroxysmal AF at the age of 39 years. Proband 2 (G60D) was diagnosed with lone AF at the age of 33 years. The patient has inherited the mutation from his mother, who also has AF. Both probands had no mutations in genes previously associated with AF. In heterologous expression systems, both mutants showed significant gain-of-function for IKs both with respect to steady-state current levels, kinetic parameters, and heart rate-dependent modulation. Conclusions Mutations in KV7.1 leading to gain-of-function of IKs current have previously been described in lone AF, yet this is the first time a mutation in the beta-subunit KCNE1 is associated with the disease. This finding further supports the hypothesis that increased potassium current enhances AF susceptibility.

2012-01-01

416

Imitating actions on objects in early-onset and regressive autism: effects and implications of task characteristics on performance.  

PubMed

This study was designed to examine the nature of object imitation performance in early autism. We hypothesized that imitation would be relatively preserved when behaviors on objects resulted in salient instrumental effects. We designed tasks in which, in one condition, the motor action resulted in a salient, meaningful effect on an object, whereas in the other condition, the same action resulted in a less salient effect because of differing object characteristics. The motor aspects of the tasks did not vary across conditions. Four participant groups of 2- to 5-year-olds were examined: 17 children with early-onset autism, 24 children with regressive onset autism, 22 children with developmental delays, and 22 children with typical development. Groups were matched on nonverbal skills, and differences in verbal development were examined as a moderator of imitative ability. Results revealed an interaction of group by condition, with the combined autism group failing more tasks than the combined comparison groups, and failing more tasks in the less salient condition than in the more salient condition, as hypothesized. Analyses of autism subgroups revealed these effects were primarily because of the regression onset group. Accuracy of motor performance was examined by analyzing errors. Among children passing imitative acts, there were no group differences and no condition effects in the number, type, or pattern of performance errors. Among children passing the tasks, the group with autism did not demonstrate more emulation errors (imitating the goal but not the means) than other groups. There was no evidence that either motor or attentional aspects of the tasks contributed to the poorer imitative performance of the children with autism. PMID:20102648

Rogers, Sally J; Young, Gregory S; Cook, Ian; Giolzetti, Angelo; Ozonoff, Sally

2010-01-01

417

Imitating actions on objects in early-onset and regressive autism: Effects and implications of task characteristics on performance  

PubMed Central

This study was designed to examine the nature of object imitation performance in early autism. We hypothesized that imitation would be relatively preserved when behaviors on objects resulted in salient instrumental effects. We designed tasks in which, in one condition, the motor action resulted in a salient, meaningful effect on an object, whereas in the other condition, the same action resulted in a less salient effect because of differing object characteristics. The motor aspects of the tasks did not vary across conditions. Four participant groups of 2- to 5-year-olds were examined: 17 children with early-onset autism, 24 children with regressive onset autism, 22 children with developmental delays, and 22 children with typical development. Groups were matched on nonverbal skills, and differences in verbal development were examined as a moderator of imitative ability. Results revealed an interaction of group by condition, with the combined autism group failing more tasks than the combined comparison groups, and failing more tasks in the less salient condition than in the more salient condition, as hypothesized. Analyses of autism subgroups revealed these effects were primarily because of the regression onset group. Accuracy of motor performance was examined by analyzing errors. Among children passing imitative acts, there were no group differences and no condition effects in the number, type, or pattern of performance errors. Among children passing the tasks, the group with autism did not demonstrate more emulation errors (imitating the goal but not the means) than other groups. There was no evidence that either motor or attentional aspects of the tasks contributed to the poorer imitative performance of the children with autism.

Rogers, Sally J.; Young, Gregory S.; Cook, Ian; Giolzetti, Angelo; Ozonoff, Sally

2010-01-01

418

Early pubertal onset and its relationship with sexual risk taking, substance use and anti-social behaviour: a preliminary cross-sectional study  

PubMed Central

Background In many countries age at pubertal onset has declined substantially. Relatively little attention has been paid to how this decline may affect adolescent behaviours such as substance use, violence and unprotected sex and consequently impact on public health. Methods In the UK, two opportunistic samples (aged 16-45 years), paper-based (n = 976) and online (n = 1117), examined factors associated with earlier pubertal onset and whether earlier age of onset predicted sexual risk-taking, substance use and anti-social behaviours during early adolescence. Results Overall, 45.6% of females reported menarche ? 12 years and 53.3% of males were categorised as having pubertal onset ? 11 years. For both sexes earlier pubertal onset was associated with poorer parental socio-economic status. Other pre-pubertal predictors of early onset were being overweight, more childhood illnesses (females) and younger age at time of survey (males). For both sexes earlier puberty predicted having drunk alcohol, been drunk, smoked and used drugs <14 years as well as having a sexual debut and unprotected sex <16 years. Males with earlier pubertal onset were more likely to report fighting and aggressive responses to emotional upset during early adolescence while females were more likely to report being bullied and having taken more time off school. Conclusion Results provide sufficient evidence for changes in age of pubertal onset to be further explored as a potential influence on trends in adolescent risk behaviours. Further insight into the relationship between early puberty and both obesity and socio-economic status may help inform early interventions to tackle the development of risk behaviours and health inequalities during early adolescence.

2009-01-01

419

Impaired phagocytosis in localized aggressive periodontitis: rescue by Resolvin E1.  

PubMed

Resolution of inflammation is an active temporally orchestrated process demonstrated by the biosynthesis of novel proresolving mediators. Dysregulation of resolution pathways may underlie prevalent human inflammatory diseases such as cardiovascular diseases and periodontitis. Localized Aggressive Periodontitis (LAP) is an early onset, rapidly progressing form of inflammatory periodontal disease. Here, we report increased surface P-selectin on circulating LAP platelets, and elevated integrin (CD18) surface expression on neutrophils and monocytes compared to healthy, asymptomatic controls. Significantly more platelet-neutrophil and platelet-monocyte aggregates were identified in circulating whole blood of LAP patients compared with asymptomatic controls. LAP whole blood generates increased pro-inflammatory LTB4 with addition of divalent cation ionophore A23187 (5 µM) and significantly less, 15-HETE, 12-HETE, 14-HDHA, and lipoxin A(4). Macrophages from LAP subjects exhibit reduced phagocytosis. The pro-resolving lipid mediator, Resolvin E1 (0.1-100 nM), rescues the impaired phagocytic activity in LAP macrophages. These abnormalities suggest compromised resolution pathways, which may contribute to persistent inflammation resulting in establishment of a chronic inflammatory lesion and periodontal disease progression. PMID:21935407

Fredman, Gabrielle; Oh, Sungwhan F; Ayilavarapu, Srinivas; Hasturk, Hatice; Serhan, Charles N; Van Dyke, Thomas E

2011-09-14

420

Carbonate platform evidence of ocean acidification at the onset of the early Toarcian oceanic anoxic event  

NASA Astrophysics Data System (ADS)

The early Toarcian oceanic anoxic event (Early Jurassic;˜183 Myr ago) is associated with one of the largest negative carbon isotope excursion (CIE) in the whole Phanerozoic (3-7‰). Estimates of the magnitude and rate of CO2 injection in the ocean-atmosphere system are compatible with a scenario of ocean acidification. Many carbonate platforms drowned in the Pliensbachian, well before the early Toarcian event. In this paper we test the hypothesis of surface water ocean acidification by presenting data from a resilient carbonate platform: the Apennine Carbonate Platform of southern Italy. The studied sections document a dramatic shift of the carbonate factory from massive biocalcification to chemical precipitation. Lithiotis bivalves and calcareous algae (Palaeodasycladus mediterraneus), which were the most prolific carbonate producers of Pliensbachian carbonate platforms, disappear during the first phase of the early Toarcian CIE, before the most depleted values are reached. We discuss the local versus supraregional significance of this shift and propose a scenario involving abrupt decline of carbonate saturation, forced by CO2 release at the beginning of the early Toarcian CIE, followed by a calcification overshoot, driven by the recovery of ocean alkalinity. Attribution of the demise of carbonate platform hypercalcifiers to ocean acidification is supported by palaeophysiology and reinforced by experimental data on the detrimental effects of ocean acidification on recent shellfishes and calcareous algae.

Trecalli, Alberto; Spangenberg, Jorge; Adatte, Thierry; Föllmi, Karl B.; Parente, Mariano

2012-12-01