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1

Keratosis palmoplantaris associated with early-onset periodontitis: a case report.  

PubMed

Keratosis palmoplantaris associated with periodontopathy or Papillon Lefevre syndrome is a very rare genetic disorder with autosomal recessive mode of inheritance and is characterized by hyperkeratosis of the palms and soles and early onset of a severe destructive periodontitis. The clinical presentation, differential diagnosis, therapeutic and periodontal management of an 8-year old male child diagnosed with this syndrome is discussed. PMID:20931924

Gunashekhar, M

2010-01-01

2

Humoral immune response in early-onset periodontitis: influence of smoking.  

PubMed

Sixty-five patients with generalised early-onset periodontitis (G-EOP) (age range 16-42 years, 32 smokers and 33 non-smokers) were assessed for antibody titres and avidity to a panel of five suspected periodontal pathogens (Porphyromonas gingivalis, Actinobacillus actinomycetemcomitans, Prevotella intermedia, Treponema denticola and Bacteroides forsythus). Thirty-four of these patients were untreated (17 smokers and 17 non-smokers), and thirty-one were in the maintenance phase of periodontal therapy (15 smokers and 16 non-smokers). Previous studies have investigated the effect of smoking on IgG levels in periodontitis patients in the context of the more extensive periodontal destruction seen in smokers. Based on this literature our hypothesis was that smokers would have depressed serum IgG levels directed against recognised periodontal pathogens compared with non-smokers. Antibody titres were measured by ELISA deploying fixed whole cells as coating. The IgG response was detected with biotin-anti-human IgG and avidin-peroxidase; avidity was determined by elution with ammonium thiocyanate. Median titres to A. actinomycetemcomitans, P. intermedia and T. denticola were significantly lower in maintenance patient smokers (p= 0.02, 0.02 and 0.002 respectively) but not in untreated patients. Avidity to P. gingivalis was also lower in smoking maintenance patients (p = 0.003) but not in untreated patients. These findings may imply some interruption of immune maturation in smokers following periodontal treatment. PMID:11519695

Mooney, J; Hodge, P J; Kinane, D F

2001-08-01

3

Assessment of serum antibody patterns and analysis of subgingival microflora of members of a family with a high prevalence of early-onset periodontitis.  

PubMed Central

In a study of members of a large family with a high prevalence of early-onset periodontitis, we sampled the subgingival microflora and characterized 40 isolates from each sample. We surveyed serum samples by enzyme-linked immunosorbent assay for antibodies reacting with any of a panel of 21 periodontal bacteria. The mother and 7 of her 13 children had early-onset periodontitis. Bacteroides gingivalis was not detected in the subgingival flora of any affected or unaffected family member, and Actinobacillus actinomycetemcomitans was isolated from only one affected child. Capnocytophaga ochracea was isolated from five of seven affected children and from none of their normal siblings. We found no significant differences among the floras from family members who had rapidly progressive, juvenile, and prepubertal forms of periodontitis. Elevated levels of serum antibody reacting with one or more of the bacteria tested were found in all family members with disease, but in only one periodontally normal family member. Both children with prepubertal periodontitis had antibodies reacting with C. sputigena, a species not found in their subgingival floras, but with none of the other bacteria tested. All remaining affected family members had antibodies to one or more serotypes of A. actinomycetemcomitans, and four had antibodies reacting with additional bacteria, including C. sputigena, Eikenella corrodens, Fusobacterium nucleatum, and Haemophilus aphrophilus. Sera from patients contained antibodies specific for putative periodontal pathogens not found in their pocket flora, and conversely, putative periodontal pathogens for which no serum antibodies were found frequently comprised a large proportion (10% or more) of the pocket flora. In no case were both the bacterium and its antibody found. These observations are suggestive of sequential infection in the early-onset forms of periodontitis and of induction of protective immunity against reinfection by the same microorganism.

Williams, B L; Ebersole, J L; Spektor, M D; Page, R C

1985-01-01

4

Ehlers-Danlos Syndrome with Severe Early-Onset Periodontal Disease (EDS-VIII) Is a Distinct, Heterogeneous Disorder with One Predisposition Gene at Chromosome 12p13  

PubMed Central

Ehlers-Danlos VIII (EDS-VIII) is an autosomal dominant disorder characterized by severe early-onset periodontal disease in conjunction with the features of Ehlers-Danlos syndrome (EDS). We performed a genomewide linkage search in a large Swedish pedigree with EDS-VIII and established linkage to a 7-cM interval on chromosome 12p13, generating a maximum multipoint LOD score of 5.17. Analysis of four further pedigrees with EDS-VIII revealed two consistent with linkage to 12p13 and two in which linkage could be excluded, indicating that EDS-VIII is a genetically heterogeneous disorder. Chromosome 12p13 has not previously been implicated in either EDS or periodontal disease and contains no known collagen genes or collagen-processing enzymes. Mutational screening of the microfibril-associated glycoprotein-2 gene, a strong candidate within the minimal interval, did not reveal any likely pathogenic mutations.

Rahman, Nazneen; Dunstan, Melanie; Teare, M. Dawn; Hanks, Sandra; Douglas, Jenny; Coleman, Kim; Bottomly, William E.; Campbell, Mary E.; Berglund, Britta; Nordenskjold, Magnus; Forssell, Bengt; Burrows, Nigel; Lunt, Peter; Young, Ian; Williams, Nigel; Bignell, Graham R.; Futreal, P. Andrew; Pope, F. Michael

2003-01-01

5

[Early onset diabetes mellitus].  

PubMed

Neonatal diabetes mellitus is a rare condition (1/90,000 to 1/260,000 live births) defined as mild-to-severe hyperglycemia within the first year of life. Permanent neonatal diabetes mellitus requires lifelong therapy, whereas transient form resolves early in life but may relapse later on. Two main physiopathological mechanisms may explain this disease: ? cell functional impairment or absence (pancreas agenesis or ? cells destruction). The main genetic causes of ? cells impairment are 6q24 abnormalities and mutations in ABCC8 or KCNJ11 potassium channel (KATP channel) genes. Compared to the KATP subtype, the 6q24 subtype had specific features: developmental defects involving the heart, kidneys, or urinary tract, intrauterine growth restriction, and early diagnosis. Remission of neonatal diabetes mellitus occurred in 51% of probands at a median age of 17 weeks. Recurrence was common at pubertal age, with no difference between the 6q24 and KATP-channel groups (82% vs 86%, p=0.36, respectively). Patients with mutations in ABCC8 or KCNJ11 genes had developmental delay with or without epilepsy but also developmental coordination disorder (particularly visual-spatial dyspraxia) or attention deficits in all of those who underwent in-depth neuropsychomotor investigations. PMID:24360362

Busiah, K; Vaivre-Douret, L; Yachi, C; Cavé, H; Polak, M

2013-12-01

6

Periodontal infection in adult-onset Still's disease patient: clinical and haematological considerations  

PubMed Central

In this case report, the authors described the first case of a patient with adult-onset Still’s disease (AOSD) who presents advanced periodontal infection. AOSD is a rare systemic inflammatory disorder of unknown aetiology, characterised by spiking fever, usually exceeding 39°C, an evanescent salmon pink rash, arthritis and multiorgan involvement. Periodontal infection is a pathogen-induced oral inflammatory disease affecting the supporting tissues of teeth and is currently considered as a risk factor for cardiovascular disease. Several cytokines capable of inducing systemic effects are produced during the course of this infection and the values of serum markers of inflammation, such as C reactive protein (CRP), may significantly decrease after periodontal treatment. Although AOSD can produce elevations in CRP, similar increase may be produced by periodontal infection, suggesting the need for medical and dental diagnosis when evaluating the sources of acute-phase responses in systemic autoimmune disease patients.

Pessoa, Larissa; Galvao, Virgilio; Ferreira, Clarissa; Neto, Leopoldo Santos

2011-01-01

7

The Influence of Tobacco Smoking on the Onset of Periodontitis in Young Persons  

PubMed Central

This paper reviews the evidence for cigarette smoking as a risk factor for the development of severe destructive periodontal disease in young adults. A high prevalence of cigarette smoking has been identified among young individuals with aggressive periodontitis and tobacco usage increases the risk of periodontal destruction most significantly in young populations. The effect appears to be dose related and is independent of levels of plaque accumulation. Young smokers have more alveolar bone loss and attachment loss than non smoking equivalents. Prolonged and heavy smoking can reduce gingival bleeding and therefore mask the clinical marker of bleeding on probing often used by dentists to monitor periodontal health. This has implications for potential misdiagnosis and failure to detect periodontitis at an early stage. Nicotine metabolites concentrate in the periodontal tissues and can have local effects as well as the potential to affect the systemic host response. Dentists are well placed to assess the smoking status of their young patients and have a role to play in the delivery of smoking cessation advice especially as it pertains to periodontal health. In this way the dental profession can also make a significant contribution to the general health and well being of our youth and future generations.

Mullally, Brian H

2004-01-01

8

Inflammation and Genetic Risk Indicators for Early Periodontitis in Adults  

PubMed Central

OBJECTIVE This report is a further analysis of a study designed to determine clinical and microbial risk indicators for progressing periodontitis. MATERIAL AND METHODS One hundred and ninety subjects periodontally healthy or adults with early signs of periodontitis (20–40 years) were monitored clinically at 6-month intervals followed by supragingival cleaning. At each visit, GCF and blood were collected for determination of IL-1? content (GCF) and IL-1 genotype (blood). Inter-proximal sites with >1.5 mm increase in clinical attachment over 18 months were considered disease active. Characteristics were compared between active and inactive subjects. RESULTS IL-1? levels in GCF increased with severity of disease and correlated well with clinical signs of incipient disease. However, IL-1 genotype did not show any significant associations with disease or extent of disease. CONCLUSIONS Indicators of inflammation may be important clinical determinants of future periodontal disease progression, but IL-1 genotype was not a risk indictor for early (slight) periodontitis as defined in this subject population.

Stashenko, Philip; Van Dyke, Thomas; Tully, Patrice; Kent, Ralph; Sonis, Stephen; Tanner, Anne C.R.

2012-01-01

9

Substance Abuse in Early Onset Psychotic Disorders  

Microsoft Academic Search

Objectives: To examine patterns of substance use in youths with schizophrenia or other early onset psychotic disorders.Methods: Youths with psychotic disorders (onset before age 18 years) were assessed annually over two years using standardized diagnostic and symptom rating measures, including the Structured Clinical Interview for DSM-IV (SCID). Subjects with psychosis solely due to substance use were excluded. Subjects were between

Ray Hsiao; Jon McClellan

2008-01-01

10

Parkin analysis in early onset Parkinson's disease.  

PubMed

We analysed the parkin gene in a large consecutive series (146) of unrelated early onset Parkinson's disease (onset ?40 years of age) patients. Twelve cases (8.2%) had homozygous or compound heterozygous point mutations and/or exon rearrangements, while a single mutation was found in four subjects (2.7%). We identified eight exon rearrangements and nine point mutations, two of which were novel: c.735delT (p.C212/X224) and c.815C>G (p.C238W). Genotype-phenotype correlation revealed that parkin carriers had features similar to those of non-carrier early onset Parkinson disease patients. PMID:18519021

Sironi, Francesca; Primignani, Paola; Zini, Michela; Tunesi, Sara; Ruffmann, Claudio; Ricca, Sara; Brambilla, Tiziana; Antonini, Angelo; Tesei, Silvana; Canesi, Margherita; Zecchinelli, Anna; Mariani, Claudio; Meucci, Nicoletta; Sacilotto, Giorgio; Cilia, Roberto; Isaias, Ioannis U; Garavaglia, Barbara; Ghezzi, Daniele; Travi, Maurizio; Decarli, Adriano; Coviello, Domenico A; Pezzoli, Gianni; Goldwurm, Stefano

2008-01-01

11

Genetics Home Reference: Early-onset primary dystonia  

MedlinePLUS

... literature OMIM Genetic disorder catalog Conditions > Early-onset primary dystonia On this page: Description Genetic changes Inheritance ... definitions Reviewed May 2008 What is early-onset primary dystonia? Early-onset primary dystonia is a condition ...

12

Early-onset familial Alzheimer's disease (EOFAD).  

PubMed

Early-onset familial Alzheimer's disease (EOFAD) is a condition characterized by early onset dementia (age at onset < 65 years) and a positive family history for dementia. To date, 230 mutations in presenilin (PS1, PS2) and amyloid precursor protein (APP) genes have been identified in EOFAD. The mutations within these three genes (PS1/PS2/APP) affect a common pathogenic pathway in APP synthesis and proteolysis, which lead to excessive production of amyloid ?. Compared with sporadic Alzheimer's disease (AD), EOFAD has some distinctive features including early age at onset, positive familial history, a variety of non-cognitive neurological symptoms and signs, and a more aggressive course. There is marked phenotypic heterogeneity among different mutations of EOFAD. Studies in presymptomatic mutation carriers reveal biomarkers abnormalities. EOFAD diagnosis is based on clinical and family history, neurological symptoms and examination, biomarker features, as well as genotyping in some cases. New therapeutic agents targeting amyloid formation may benefit EOFAD individuals. PMID:22728850

Wu, Liyong; Rosa-Neto, Pedro; Hsiung, Ging-Yuek R; Sadovnick, A Dessa; Masellis, Mario; Black, Sandra E; Jia, Jianping; Gauthier, Serge

2012-07-01

13

Neuropsychological functioning in early onset psychotic disorders  

Microsoft Academic Search

This paper examines whether neuropsychological profiles of youth with early onset psychotic disorders predicted diagnostic or clinical status. Youth with schizophrenia (n=27), bipolar disorder (n=22), and psychosis NOS (n=20) were included. Subjects received an extensive neuropsychological evaluation, including measures of general cognition, attention, memory, and executive functioning. Medication status was not controlled. No statistically significant neurocognitive differences across diagnostic groups

Jon McClellan; Amy Prezbindowski; David Breiger; Chris McCurry

2004-01-01

14

The link between early onset drinking and early onset alcohol-impaired driving in young males.  

PubMed

Abstract Background: Young drivers represent a disproportionate number of the individuals involved in alcohol-impaired driving. Although there is a known association between drinking and alcohol-impaired driving in young drivers, the link between early onset drinking and early onset alcohol-impaired driving has not been explored. Objectives: The present study aimed to assess this link along with potentially confounding factors. Methods: The assessment used a proportional hazards model with data collected from the Buffalo Longitudinal Study of Young Men, a population-based sample of 625 males at aged 16-19. Results: Controlling for the effects of potentially relevant confounds, the early onset of drinking was the most influential factor in predicting the early onset of alcohol-impaired driving. Race and the early onset of other forms of delinquency also played a significant role in the early onset of alcohol-impaired driving. Conclusion: Preventing an early start of drinking among adolescents may be the most critical factor to address in preventing an early start of alcohol-impaired driving. PMID:24766089

Zhang, Lening; Wieczorek, William F; Welte, John W

2014-05-01

15

Periodontal Disease and the Oral Microbiota in New-Onset Rheumatoid Arthritis  

PubMed Central

Objective To profile the subgingival oral microbiota abundance and diversity in never-treated, new-onset rheumatoid arthritis (NORA) patients. Methods Periodontal disease (PD) status, clinical activity and sociodemographic factors were determined in patients with NORA, chronic RA (CRA) and healthy subjects. Massively parallel pyrosequencing was used to compare the composition of subgingival microbiota and establish correlations between presence/abundance of bacteria and disease phenotypes. Anti-P. gingivalis antibodies were tested to assess prior exposure. Results The more advanced forms of periodontitis are already present at disease onset in NORA patients. The subgingival microbiota of NORA is distinct from controls. In most cases, however, these differences can be attributed to PD severity and are not inherent to RA. The presence and abundance of P. gingivalis is directly associated with PD severity as well, is not unique to RA, and does not correlate with anti-citrullinated peptide antibody (ACPA) titers. Overall exposure to P. gingivalis is similar in RA and controls, observed in 78.4% and 83.3%, respectively. Anaeroglobus geminatus correlated with ACPA/RF presence. Prevotella and Leptotrichia species are the only characteristic taxa in the NORA group irrespective of PD status. Conclusions NORA patients exhibit a high prevalence of PD at disease onset, despite their young age and paucity of smoking history. The subgingival microbiota of NORA patients is similar to CRA and healthy subjects of comparable PD severity. Although colonization with P. gingivalis correlates with PD severity, overall exposure is similar among groups. The role of A. geminatus and Prevotella/Leptotrichia species in this process merits further study.

Scher, Jose U.; Ubeda, Carles; Equinda, Michele; Khanin, Raya; Buischi, Yvonne; Viale, Agnes; Lipuma, Lauren; Attur, Mukundan; Pillinger, Michael H.; Weissmann, Gerald; Littman, Dan R.; Pamer, Eric G.; Bretz, Walter A.; Abramson, Steven B.

2012-01-01

16

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

17

Genomic insights into early-onset obesity.  

PubMed

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. PMID:20587078

Choquet, Hélène; Meyre, David

2010-01-01

18

Erythropoietic protoporphyria and early onset of cholestasis.  

PubMed

Erythropoietic protoporphyria (EPP) is an inherited defect of mitochondrial ferrochelatase. This defect results in accumulation of protoporphyrin in erythrocytes, plasma, liver, and skin, which causes severe photosensitivity. Liver disease can occur in 1-4% of the patients with EPP, usually after at least a decade of photosensitivity. Herein, we describe a 1.5-year-old child with EPP with severe photosensitivity, heart abnormalities and early onset of cholestatic liver disease, whose clinical condition improved gradually after using ursodeoxycholic acid. It seems that liver disease in EPP patients is not limited to the late phases of the disease and could develop in childhood and early phases of EPP. Awareness among physicians has a major role in the early detection and prevention of mistreatment of EPP in case of its combination with other abnormalities. PMID:23692792

Khalili, Mani Jeh; Farahmand, Fatemeh; Hirbod-Mobarakeh, Armin; Yousefi, Azizollah; Sotoudeh, Soheila; Monajemzadeh, Maryam; Razaghian, Anahita; Rezaei, Nima

2012-01-01

19

Early onset neonatal group B streptococcal sepsis.  

PubMed

Early onset neonatal group B streptococcal (GBS) sepsis is a serious neonatal illness with high morbidity and mortality. The disease can present in two forms: early clinical manifestation with respiratory distress soon after birth or late presentation with gradual onset of signs of sepsis. The former carries a high risk for serious cardiovascular complication with persistent pulmonary hypertension; the latter is often complicated with meningitis that may lead to serious neurodevelopmental impairment. An important advance in the past three decades is the development and implementation of preventive strategy for this disease by universal screening and identification of maternal GBS carriers and/or risk factors with subsequent use of intrapartum antibiotic prophylaxis. The strategy has resulted in a significant reduction of the disease from 1.5 to 0.3/1,000 live births over the past three decades. Some women may have unknown GBS status. The American Academy of Pediatrics has developed an algorithm as guidance for the management of the newborns. PMID:23322392

Oh, William

2013-02-01

20

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

21

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

22

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

23

Impulsivity in Juvenile Delinquency: Differences among Early-Onset, Late-Onset, and Non-Offenders  

ERIC Educational Resources Information Center

The present research investigated differences in levels of impulsivity among early-onset, late-onset, and non-offending adolescents. 129 adolescents (114 males, 15 females), of whom 86 were institutionalised (M age = 15.52 years) and 43 were regular school students (M age = 15.40 years) participated. Each participant completed the Adapted…

Carroll, Annemaree; Hemingway, Francene; Bower, Julie; Ashman, Adrian; Houghton, Stephen; Durkin, Kevin

2006-01-01

24

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

25

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

26

Early-onset Parkinson's disease and depression.  

PubMed

Patients with Parkinsons disease (PD) in whom symptoms start before the age of 45 years (EOPD) present different clinical characteristics from those with the late-onset form of the disease. The incidence of depression is believed to be greater in patients with EOPD than with the late-onset form of the disease, although there is no risk factor or marker for depression in patients with PD. We studied 45 patients with EOPD to define the frequency of depression and to identify possible differences between the groups with and without depression. Depression was diagnosed in 16 (35.5%) of the patients, a higher incidence than in the population at large but similar to the figure for late-onset Parkinson disease; 8 (50%) of the patients had mild depression, 4 (25%) moderate depression and 4 (25%) were in remission. There was no relationship between depression and any of the clinical characteristics of the disease, although the EOPD patients with depression presented earlier levodopa-related complications and were more affected on the Hoehn-Yahr, UPDRS and Schwab-England scales. PMID:17420818

Bertucci Filho, Délcio; Teive, Hélio A G; Werneck, Lineu C

2007-03-01

27

Early and Late Onset Sepsis in Late Preterm Infants  

PubMed Central

Background Preterm birth is increasing worldwide, and late preterm births, which comprise more than 70% of all preterm births, account for much of the increase. Early and late onset sepsis results in significant mortality in extremely preterm infants, but little is known about sepsis outcomes in late preterm infants. Methods This is an observational cohort study of infants < 121 days of age (119,130 infants less than or equal to 3 days of life and 106,142 infants between 4 and 120 days of life) with estimated gestational age at birth between 34 and 36 weeks, admitted to 248 neonatal intensive care units in the United States between 1996 and 2007. Results During the study period, the cumulative incidence of early and late onset sepsis was 4.42 and 6.30 episodes per 1000 admissions, respectively. Gram-positive organisms caused the majority of early and late onset sepsis episodes. Infants with early onset sepsis caused by Gram-negative rods and infants with late onset sepsis were more likely to die than their peers with sterile blood cultures (OR 4.39, 95% CI 1.71–11.23, P=0.002; and OR 3.37, 95% CI 2.35–4.84, P<0.001, respectively). Conclusion Late preterm infants demonstrate specific infection rates, pathogen distribution, and mortality associated with early and late onset sepsis. The results of this study are generalizable to late preterm infants admitted to the special care nursery or neonatal intensive care unit.

Cohen-Wolkowiez, Michael; Moran, Cassandra; Benjamin, Daniel K.; Cotten, C. Michael; Clark, Reese H.; Benjamin, Daniel K.; Smith, P. Brian

2009-01-01

28

Early-onset schizophrenia: a 15-year follow-up.  

PubMed

The study describes the psychopathological and social outcome of patients treated for schizophrenia in adolescence (mean age at onset 16.0 years/SD 1.52) after a mean follow-up period of 15.4 years (10.2-21.2 years). Out of 55 patients consecutively admitted to hospital, 47 (85 %) could be traced and 39 (71 %) could be re-examined. At follow-up, 33/39 patients (85 %) had had at least one readmission. Full remission of global psychopathological symptoms [Clinical Global Impression (CGI) onset (CGI: Beta=0.36, GAS: Beta=-0.37). A poor outcome was seen in 22 out of 25 cases with insidious onset. All predictors together explained 58% of the variance in the Positive and Negative Syndrome (PANSS) negative symptom ratings at follow-up. Gender, duration of first inpatient treatment and duration of untreated psychosis were of no predictive value for outcome. The nature of the diagnosis in the first episode strongly predicted the diagnosis given for the whole course after 15 years. In 26/37 cases (70 %), diagnosis at onset and overall diagnoses were the same. Our finding of an incidence of 61% insidious onset is similar to that in adult onset schizophrenia (AOS), but different to very early onset schizophrenia (VEOS), which shows a higher rate of insidious onset, cognitive impairment and poor outcome. Therefore, it seems that VEOS is a special group compared with early onset schizophrenia (EOS) and AOS. PMID:16220219

Röpcke, Bernd; Eggers, Christian

2005-09-01

29

[Early onset conversion disorder: a case report].  

PubMed

Conversion disorder is defined as the presence of functional impairment in motor, sensory and neurovegetative systems that cannot be fully explained by a general medical condition. In western countries, conversion disorder is rare in children and adolescents. However, clinical studies from our country demonstrated a high frequency of conversion disorder diagnosis in child and adolescent psychiatry clinics. Conversion disorder is more frequently seen in adolescents and young adults compared to children. The likelihood of this disorder in children younger than five years of age is very low. This case report presents an 8 years old patient with conversion disorder diagnosis whose complaints started at three years of age. Her clinical condition had been continuous and resistant to non-psychiatric treatment approaches. Her complaints included inability to stand up and walk, complete bed dependence, presence of jerking type of movements in both legs, contractures as a result of decreased muscle movements and joint use, and presence of curving in her back due to continuous sitting bent to one side. Therapeutic interventions had been successful and the patient completely recovered. In this paper, the clinical presentation of conversion disorder, possible etiological factors and how these factors were handled, concrete treatment strategies and the follow-up of this patient are discussed. In addition, importance of early diagnosis and treatment of conversion disorder in children in our country and requirement of interdisciplinary cooperation in treatment are emphasized. PMID:16528637

Akdemir, Devrim; Unal, Fatih

2006-01-01

30

Biometry of the crystalline lens in early-onset diabetes.  

PubMed Central

Lenticular biometry on non-cataractous lenses has been studied by means of Scheimpflug photography and digital image analysis in 153 patients with early-onset insulin-dependent diabetes and 153 non-diabetic controls. Anteroposterior axial lens thickness, cortical thickness, nuclear thickness, anterior and posterior lenticular curvatures, and anterior chamber depth were assessed. Highly significant differences between the lenses of the diabetic subjects and non-diabetic controls were found. After the effect of age had been accounted for within the diabetic subgroup, diabetic duration was found to be a highly significant determinant of lens dimensions, such that age-related dimensional changes for various biometric parameters were accelerated by between 52% and 121% after the onset of diabetes. Because the diabetic duration of the early-onset diabetic subjects studied in this work was accurately known, this report is the first in which a precise assessment of the effect of 'true' diabetic duration on lens biometry has been possible.

Sparrow, J M; Bron, A J; Brown, N A; Neil, H A

1990-01-01

31

Early rheumatoid arthritis —onset, course, and outcome over 2 years  

Microsoft Academic Search

Summary  Eighty-nine patients, 33 men and 56 women, with early definite rheumatoid arthritis were followed for 2 years. Two-thirds were seropositive. About 1\\/3 were eventually treated with second line drugs. The disease mostly had an insidious onset initially involving the finger joints. Early remission occurred in 16%. Patient relevant measures such as pain, patient's overall assessment of disease activity and anxiety

K. B. Eberhardt; L. C. Rydgren; H. Pettersson; F. A. Wollheim

1990-01-01

32

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

33

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

34

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

35

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 third…

Friedlander, R. I.; Donnelly, T.

2004-01-01

36

Neurocognition in Early-Onset Schizophrenia and Schizoaffective Disorders  

ERIC Educational Resources Information Center

Objective: We examined the neuropsychological functioning of youth enrolled in the NIMH funded trial, Treatment of Early-Onset Schizophrenia Spectrum Disorders (TEOSS). We compared the baseline neuropsychological functioning of youth with schizophrenia (SZ, n = 79) to those with schizoaffective disorder (SA, n = 40), and examined the relationship…

Hooper, Stephen R.; Giuliano, Anthony J.; Youngstrom, Eric A.; Breiger, David; Sikich, Linmarie; Frazier, Jean A.; Findling, Robert L.; McClellan, Jon; Hamer, Robert M.; Vitiello, Benedetto; Lieberman, Jeffrey A.

2010-01-01

37

Distinguishing early and late onset non-melancholic unipolar depression  

Microsoft Academic Search

Aim: We seek to determine whether unipolar non-melancholic major depression commencing early in life has a differing clinical picture, and whether it may have differing determinants. Methods: We study a sample of such patients, comparing those with depression onset in their first 25 years against residual subjects, matching exactly by sex and controlling for age. Results: There were no differences

Gordon Parker; K. Roy; Dusan Hadzi-Pavlovic; Philip Mitchell; K. Wilhelm

2003-01-01

38

Normal gastric antral myoelectrical activity in early onset anorexia nervosa.  

PubMed Central

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 non-ulcer dyspepsia, and 10 controls matched for age and sex, the non-invasive technique of surface electrogastrography was used to measure fasting and postprandial gastric antral electrical control activity, which underlies antral motility. The electrical signal was recorded by four bipolar silver/silver chloride electrodes attached to the upper abdomen, amplified and low pass filtered at 0.33 Hz before being displayed on a polygraph, digitised at 1 Hz, and stored on the hard disk of a personal computer for later offline analysis. Patients with non-ulcer dyspepsia had gastric antral dysrhythmias. No significant difference was found in the mean (SD) dominant frequency of the antral electrical control activity between patients with early onset anorexia nervosa (2.86 (0.35) cycles/minute (cpm)), patients with other eating disorders (3.14 (0.65) cpm), and controls (3.00 (0.46) cpm). The amplitude of electrical control activity increased postprandially in all but one subject and the fasting/postprandial amplitude ratio did not significantly differ between patients with early onset anorexia nervosa and controls, though patients with longer established disease had a smaller increase in amplitude. Gastric antral electrical dysrhythmias are not a feature of early onset anorexia nervosa and therefore do not induce or perpetuate food refusal in this disorder.

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

1993-01-01

39

Early and Phasic Cortical Metabolic Changes in Vestibular Neuritis Onset  

PubMed Central

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 [18F]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.

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

2013-01-01

40

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

2013-01-01

41

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

42

Suicide in later life: A comparison between cases with early-onset and late-onset depression  

Microsoft Academic Search

BackgroundSuicide rates are high in elderly people with depressive disorder. We compared behavioural, clinical and care characteristics of depressed elderly patients, aged 60years and over at the time of death by suicide, with an early-onset depression (EOD, onset before 60years) with those patients with a late age of onset (LOD).

Richard C. Oude Voshaar; Nav Kapur; Harriet Bickley; Alyson Williams; Nitin Purandare

2011-01-01

43

The accurate diagnosis of early-onset dementia.  

PubMed

Early-onset dementia (EOD, < 65 years at onset) is a relatively common and frequently misdiagnosed condition. One reason for misdiagnosis is that EOD has a more varied differential diagnosis than late-onset dementia (LOD). For example, Alzheimer's disease (AD), the preponderant LOD, makes up only about one-third of EODs; the rest are due to vascular dementias, frontotemporal lobar degenerations, traumatic head injury, alcohol-related dementia, and a great many other conditions. Another reason for misdiagnosis is that early-onset AD may have predominant cognitive deficits other than memory loss and a potential familial inheritance with spastic paraparesis, seizures, or myoclonus. A third reason is that EOD often presents with neuropsychiatric features out-of-proportion to any cognitive deficits. Despite these obstacles, it is important to accurately diagnose EODs, particularly because they differ in management and course. Clinicians can successfully diagnose most EODs with careful cognitive and family histories, mental status and neurological examinations, and neuroimaging. PMID:17407994

Mendez, Mario F

2006-01-01

44

Early-onset dementias: diagnostic and etiological considerations  

PubMed Central

This paper summarizes the body of literature about early-onset dementia (EOD) that led to recommendations from the Fourth Canadian Consensus Conference on the Diagnosis and Treatment of Dementia. A broader differential diagnosis is required for EOD compared with late-onset dementia. Delays in diagnosis are common, and the social impact of EOD requires special care teams. The etiologies underlying EOD syndromes should take into account family history and comorbid diseases, such as cerebrovascular risk factors, that may influence the clinical presentation and age at onset. For example, although many EODs are more likely to have Mendelian genetic and/or metabolic causes, the presence of comorbidities may drive the individual at risk for late-onset dementia to manifest the symptoms at an earlier age, which contributes further to the observed heterogeneity and may confound diagnostic investigation. A personalized medicine approach to diagnosis should therefore be considered depending on the age at onset, clinical presentation, and comorbidities. Genetic counseling and testing as well as specialized biochemical screening are often required, especially in those under the age of 40 and in those with a family history of autosomal dominant or recessive disease. Novel treatments in the drug development pipeline for EOD, such as genetic forms of Alzheimer's disease, should target the specific pathogenic cascade implicated by the mutation or biochemical defect.

2013-01-01

45

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

46

Familial early onset sarcoidosis with bone cysts and erosions.  

PubMed

Early onset sarcoidosis is a granulomatous disease which is characterized by synovitis, polyarthritis, skin and eye involvement. We report the skeletal features of one patient with a family history and clinical symptoms suggestive of early onset sarcoidosis (EOS) which was confirmed by skin biopsy. Radiographs reveal postarthritic deformities of the MCP joints, contractures, a coarsened trabecular pattern at the PIP joints and small bone cysts resembling osteitis cystoides multiplex. Similar lesions were described in radiographs of the older sister and an uncle of our patient. This is the first report demonstrating bone cysts and erosions which could be a diagnostic feature in this rare disease and may help to differentiate other rheumatoid disorders. PMID:17492440

Blank, Norbert; Max, Regina; Autschbach, Frank; Libicher, Martin; Lorenz, Hanns-Martin

2007-09-01

47

Biometry of the crystalline lens in early-onset diabetes  

Microsoft Academic Search

Lenticular biometry on non-cataractous lenses has been studied by means of Scheimpflug photography and digital image analysis in 153 patients with early-onset insulin-dependent diabetes and 153 non-diabetic controls. Anteroposterior axial lens thickness, cortical thickness, nuclear thickness, anterior and posterior lenticular curvatures, and anterior chamber depth were assessed. Highly significant differences between the lenses of the diabetic subjects and non-diabetic controls

J M Sparrow; A J Bron; N A Brown; H A Neil

1990-01-01

48

A study of cranial computer tomograms in very early and early onset schizophrenia.  

PubMed

The cranial computer-assisted tomograms of 19 patients suffering from schizophrenic psychoses with onset by age of 14 were examined. The emphasis was on the extent of the inner liquor spaces. Compared to healthy controls, at the beginning of illness a significant enlargement was revealed only in the patient group with very early onset schizophrenia (VEOS, onset prior to the age of 12), whereas children with early onset (EOS, 12 to 14 years of age) showed no significant brain pathology. As a second result, an increase in the extent of the inner liquor spaces seems to correlate with the duration of illness. It is therefore concluded that psychoses interfere with neurodevelopmental processes and cause more severe brain pathology in very young children, already detectable at the onset of the illness. EOS, on the other hand, induces progressive morphological abnormalities over the course of the illness. PMID:11768632

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

2001-01-01

49

Editorial: Research Progress in Early-Onset Schizophrenia  

PubMed Central

A substantial proportion of patients with schizophrenia experience the onset of their illness by age 18. Data from phenomenological, cognitive, neuroimaging, and genetic studies suggest a similar profile of clinical and neurobiological abnormalities between early- and adult-onset patients. However, children and adolescents with schizophrenia have been found to have more severe premorbid neurodevelopmental abnormalities, worse long-term outcome, more cytogenetic anomalies, and potentially greater loading of family histories for schizophrenia and associated spectrum disorders than their adult counterparts. Together, these data support a hypothesis that early-onset schizophrenia may reflect a more severe form of the disorder associated with a greater genetic predisposition. It is anticipated that future imaging and genetic studies of this cohort will provide further insight into the neurodevelopmental origins of schizophrenia and the complexity by which genetic and environmental factors interact to modulate susceptibility and/or disease phenotype. The articles on this theme provide updated findings from brain magnetic resonance imaging, neurocognition, and clinical trials in this unique cohort.

Kumra, Sanjiv; Charles Schulz, S.

2008-01-01

50

Conversion (dissociative) symptoms as a presenting feature in early onset bipolar disorder: a case series  

PubMed Central

We present three cases of early onset bipolar disorder where dissociative (conversion) symptoms preceded the onset of mania. This case series underscores the significance of dissociative/conversion symptoms as an early atypical presentation in juvenile bipolar disorder.

Ghosal, Malay Kumar; Guha, Prathama; Sinha, Mausumi; Majumdar, Debabrata; Sengupta, Payel

2009-01-01

51

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

2012-03-01

52

Functional Connectivity of the Amygdala in Early Childhood Onset Depression  

PubMed Central

Objective Adult major depressive disorder (MDD) is associated with reduced cortico-limbic functional connectivity thought to indicate decreased top-down control of emotion. However, it is unclear whether such connectivity alterations are also present in early childhood onset MDD. Method Fifty-one children ages 7–11 years, prospectively studied since preschool age, completed resting state fMRI and were assigned to four groups: 1) C-MDD (N=13) personal history of early childhood onset MDD; 2) M-MDD (N=11) a maternal history of affective disorders; 3) CM-MDD (N=13) both maternal and early childhood onset MDD or 4) CON (N=14) without either a personal or maternal history. We used seed-based resting state functional connectivity (rsfcMRI) analysis in an independent sample of adults to identify networks showing both positive (e.g., limbic regions) and negative (e.g., dorsal frontal/parietal regions) connectivity with the amygdala. These regions were then used in ROI based analyses of our child sample. Results We found a significant interaction between maternal affective disorder history and the child's MDD history for both positive and negative rsfcMRI networks. Specifically, when copared to CON, we found reduced connectivity between the amygdala and the “Negative Network” in children with C-MDD, M-MDD and CM-MDD. Children with either C-MDD or a maternal history of MDD (but not CM-MDD) displayed reduced connectivity between the amygdala and the “Positive Network”. Conclusions Our finding of an attenuated relationship between the amygdala, a region affected in MDD and involved in emotion processing, and cognitive control regions is consistent with a hypothesis of altered regulation of emotional processing in C-MDD suggesting developmental continuity of this alteration into early childhood.

Luking, Katherine R.; Repovs, Grega; Belden, Andy C.; Gaffrey, Michael S.; Botteron, Kelly N.; Luby, Joan L.; Barch, Deanna M.

2011-01-01

53

Monocular visual outcome in untreated early onset esotropia.  

PubMed Central

The incidence of amblyopia was analysed in a group of 20 patients with early onset esotropia. These patients reached adulthood without any form of previous treatment. The incidence of amblyopia was compared in a group of 20 patients who received conventional treatment, including occlusion and early surgical alignment. Only three patients (15%) in the untreated group presented with amblyopia, compared with 16 (80%) in the treated group. After treatment 35% of the control group remained amblyopic. Spherical anisometropia of more than 2 dioptres was present in two of the patients with amblyopia in the untreated group, but was not associated with amblyopia in the control group. Early surgical alignment permits the development of peripheral fusion, allowing long term alignment stability, but amblyopia appears to be more common after surgical alignment.

Good, W V; da Sa, L C; Lyons, C J; Hoyt, C S

1993-01-01

54

[Progressive or delayed early-onset pediatric sensorineural hearing loss].  

PubMed

The introduction of newborn-hearing screening has enabled early childhood hearing loss to be diagnosed and increased the number of children undergoing early care. Bilateral hearing loss is found in 0.08% of newborns and children whose hearing loss progresses or onset is delayed account for 4 to 30% of all pediatric hearing impairment. Children with perinatal risk factors tend to have deteriorated hearing or delayed-onset hearing loss in early childhood, necessitating audiometric follow-up. We also are aware of some children without risk factors who develop hearing impairment during infancy or early childhood. Hearing deterioration may be difficult to diagnose objectively, especially in young children, the presence of risk factors must be determines as soon as possible, especially given the lack of hearing management and close examination of children without apparent risk factors. We retrospectively studied children born from April 1998 to March 2007 and undergoing cochlear implantation as of April 2008. Among cases, we focused on 10 whose hearing impairment advanced during infancy -4 with risk factors known before hearing deterioration progressed, and 6 cases thought not to have any risk factors. We detected enlarged vestibular acquaduct in 3 of these 6 cases, and 3 more of whom had no risk factors -2 passing newborn-hearing screening and 1 in whom such screening detected hemilateral hearing loss. Our results underscore the need for early temporal computed tomography for detecting enlarged vestibular aquaduct. Even children with mild or hemilateral hearing loss should undergo audiometric and developmental testing at least every 6 months up to going to elementary school. Children suspected of impaired hearing should undergo thorough hearing tests regardless of newborn hearing-screening results to catch any problems early. Appropriate regular hearing and language development check-up tests must also be developed. PMID:21770305

Kataoka, Yuko; Fukushima, Kunihiro; Maeda, Yukihide; Sugaya, Akiko; Nagayasu, Rie; Masuda, Yu; Nishizaki, Kazunori

2011-06-01

55

Late onset spondylarthropathy: clinical and biological comparison with early onset patients  

PubMed Central

OBJECTIVE—To compare the clinical, radiological, and biological profile of patients presenting late onset spondylarthropathy (LOSPA) with patients with early onset spondylarthropathy (EOSPA).?METHODS—During the period April 1987 to April 1995 a retrospective chart review of inpatients and outpatients identified eight patients with LOSPA. They were matched with 32 patients with EOSPA examined during the same period of time. Clinical, radiological, and biological signs were compared. All patients fulfilled Amor criteria for spondylarthropathy.?RESULTS—Mean age of patients with LOSPA was 65.1 years (range 58-72), and 26.6 years (range 11-40) in patients with EOSPA. The sex ratio (female/male) was 5/3 in LOSPA and 9/23 in EOSPA (p = 0.007). Patients with LOSPA had more significantly cervical and dorsal pain (p = 0.002, p = 0.02 respectively), anterior chest wall involvement (p = 0.04), number of peripheral arthritis (p = 0.04), aseptic osteitis (p = 0.004), and systemic symptoms : fever, fatigue, weight loss (p = 0.04). Mean (SD) erythrocyte sedimentation rate was 87 (24) in LOSPA and 24 (35) in EOSPA patients (p = 0.001). Inflammatory bowel disease was diagnosed in three patients with EOSPA. A definite family history of SPA was found in 50% of patients with LOSPA and in 31% of patients with EOSPA. A clear response to NSAID was obtained in 62% of LOSPA patients and in 90.6% of EOSPA patients (p = 0.05). Three LOSPA patients (two with Crohn's disease) not responding to NSAID were successfully treated with prednisone.?CONCLUSION—The onset of spondylarthropathy is uncommon after 55 years. Patients with LOSPA, according to accepted international criteria present a different clinical and biological profile when compared with younger patients. These results suggests that age may influence the presentation of SPA at onset.??

Caplanne, D.; Tubach, F.; Le Parc, J. M.

1997-01-01

56

Early onset psychotic disorders: Diagnostic stability and clinical characteristics  

Microsoft Academic Search

Objectives  To examine the clinical features and diagnostic stability of early-onset psychotic disorders.\\u000a \\u000a \\u000a \\u000a Methods  These data are from a two-year longitudinal prospective study of youth with psychotic disorders. Standardized diagnostic assessments\\u000a are administered at baseline and at one and two-year’s follow-up.\\u000a \\u000a \\u000a \\u000a Results  Fifty-one subjects have been recruited to date; 18 with schizophrenia, 14 with bipolar disorder, 7 with schizoaffective disorder,\\u000a 1 with an

J. McClellan; C. McCurry

1999-01-01

57

Newer approaches to the diagnosis of early onset neonatal sepsis  

PubMed Central

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 markers, cytokines) are not routinely available to the laboratory, and most likely combinations of markers will ensure greater diagnostic accuracy. In the future, molecular biology techniques offer the prospect of rapid identification of both pathogens and antimicrobial resistance markers.

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

2006-01-01

58

Very Early Onset of Amiodarone-Induced Pulmonary Toxicity  

PubMed Central

Amiodarone is a widely used antiarrhythmic agent. Among its various adverse effects, amiodarone-induced pulmonary toxicity (APT) is the most life threatening complication, which has been described mostly in patients who have been in treatment with high accumulative doses for a long duration of time. However, amiodarone therapy in short-term duration induced APT was rarely reported. We describe a case of a 54-year-old man who is presented with symptoms of APT after a few days of therapy for post-myocardial infarction ventricular tachycardia. For early diagnosis and successful treatment, awareness and high suspicion of this rare type of early onset APT is crucial in patients with amiodarone therapy.

Lee, Wonho; Han, Seon-Sook; Ryu, Sook-Won; Cho, Byung Ryul; Kwon, Hyucki; Kim, Bo Ra

2013-01-01

59

Early onset neonatal septicaemia in a level II nursery.  

PubMed

A prospective study of 486 high risk neonates admitted to a level II nursery in a relatively poor and rural area of Malaysia was carried out to determine the incidence, the spectrum of micro-organisms and predisposing factors in relation to early onset septicaemia. The incidence of proven or probable septicaemia was 57.61 per 1000 high risk newborns over 1.5 kg. The case fatality was 10.71 per cent. Coagulase negative staphylococci, Streptococcus Group B and Klebsiella species were the most commonly isolated organisms. Meconium staining of liquor was the most common risk factor for admission to the nursery, and prematurity was the most significant risk factor for early neonatal infection (P < 0.005) followed by small for gestational age (P < 0.04). Although the incidence of septicaemia was quite high in the level II nursery, the mortality rate was comparable to established figures. PMID:8057985

Malik, A S; Pennie, R A

1994-03-01

60

Tumor Microsatellite Instability in Early Onset Gastric Cancer  

PubMed Central

Gastric cancer (GC) remains a leading cause of cancer mortality worldwide. Genetic factors are implicated, including DNA mismatch repair (MMR) deficiency manifested as tumor microsatellite instability (MSI). However, a standardized panel of markers and a definition of low-versus-high level MSI in GC are lacking. We examined a population-based cohort of early onset (?50 yrs) gastric cancer. We identified 211 cases of early onset gastric cancer in Central-East Ontario from 1989 to 1993, with archival material available for 139 cases. Testing included a six-mononucleotide marker panel and a three-MMR immunohistochemical panel. Overall, 30% (41 of 139) of GC were MSI+, with allelic shifts at one to eight markers. An unexpected discordance between the BAT-25, BAT-26, and BAT-40 markers was observed in the MSI+ cases. Six cases showing multiple loci instability (?3 markers MSI+/MSI-high) demonstrated MMR protein deficiency. Three novel hMLH1 mutations (two germline frameshift and one somatic nonsense) were also found. The only significant clinicopathological associations were increased tumor size in MSI+ cases (P = 0.04) and Lauren histotype (P = 0.006) and tumor grade (P = 0.007) in MSI-high cases. Tumor size, location, depth, nodal status, and Ming subtype were significant prognostic variables. Therefore, we propose a new definition of high-level MSI based on unifying characteristics of instability of more than or equal to three of six mononucleotide markers and loss of MMR protein expression.

Bacani, Julinor; Zwingerman, Rhonda; Di Nicola, Nando; Spencer, Samantha; Wegrynowski, Trish; Mitchell, Kyle; Hay, Kazuko; Redston, Mark; Holowaty, Eric; Huntsman, David; Pollett, Aaron; Riddell, Robert; Gallinger, Steven

2005-01-01

61

Menkes disease - An important cause of early onset refractory seizures  

PubMed Central

Context: Menkes disease is an X-linked multisystem disorder characterized by early onset of cerebral and cerebellar neurodegeneration, fair skin, hypopigmented sparse hair and connective tissue abnormalities. Aims: We aimed to evaluate the clinical, electrophysiological and radiological features of children with Menkes disease seen at our institute. Setting/Design: The medical records of children diagnosed with Menkes disease admitted in the pediatric neurology ward or attending the special pediatric neurology clinic at a tertiary care and a referral hospital in North India, from January 2010 to December 2012, were retrospectively reviewed. The clinical data of each case was subsequently summarized and reported. Statistical analysis used: Descriptive statistics were used. Results: During the study period, 1174 children were seen. Out of these, 6 cases were diagnosed as Menkes disease on the basis of clinical phenotype, low serum copper and ceruloplasmin and supportive neuroimaging. All the children were males and had disease onset within 3 months of age, with 4 children presenting in the neonatal period. Global developmental delay and refractory seizures were the predominant clinical symptoms. Two children had symptomatic West syndrome. Other seizure semiologies included tonic-clonic (4), myoclonic (2) and tonic seizures (1). The electroencephalographic abnormalities included hypsarrythmia (2) and multifocal epileptiform discharges (3). The salient radiological features included white matter changes, temporal lobe abnormalities, global atrophy, subdural hygromas and tortuous cerebral blood vessels. Conclusions: Menkes disease should be suspected in a case of refractory early onset seizures especially in the presence of subtle clinical clues. The neuroimaging findings may further support the diagnosis.

Jain, Puneet; Kannan, Lakshminarayanan; Chakrabarty, Biswaroop; Kumar, Atin; Gupta, Neerja; Kabra, Madhulika; Gulati, Sheffali

2014-01-01

62

Aggressive periodontitis: case definition and diagnostic criteria.  

PubMed

Aggressive periodontitis is a destructive disease characterized by the following: the involvement of multiple teeth with a distinctive pattern of periodontal tissue loss; a high rate of disease progression; an early age of onset; and the absence of systemic diseases. In some patients periodontal tissue loss may commence before puberty, whereas in most patients the age of onset is during or somewhat after the circumpubertal period. Besides infection with specific microorganisms, a host predisposition seems to play a key role in the pathogenesis of aggressive periodontitis, as evidenced by the familial aggregation of the disease. In this article we review the historical background of the diagnostic criteria of aggressive periodontitis, present a contemporary case definition and describe the clinical parameters of the disease. At present, the diagnosis of aggressive periodontitis is achieved using case history, clinical examination and radiographic evaluation. The data gathered using these methods are prone to relatively high measurement errors. Besides, this diagnostic approach measures past disease history and may not reliably measure existing disease activity or accurately predict future tissue loss. A diagnosis is often made years after the onset of the disease, partly because current assessment methods detect established disease more readily and reliably than they detect incipient or initial lesions where the tissue loss is minimal and usually below the detection threshold of present examination methods. Future advancements in understanding the pathogenesis of this disease may contribute to an earlier diagnosis. Insofar, future case definitions may involve the identification of key etiologic and risk factors, combined with high-precision methodologies that enable the early detection of initial lesions. This may significantly enhance the predictive value of these tests and detect cases of aggressive periodontitis before significant tissue loss develops. PMID:24738584

Albandar, Jasim M

2014-06-01

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

Epidemiology of early-onset neonatal group B streptococcal infection  

PubMed Central

OBJECTIVE To determine the difference in outcomes between universal screening and risk-based assessment for prenatal group B streptococcus (GBS) infection based on the epidemiology of early-onset GBS infection in Winnipeg, Man, and to examine its implications for prenatal GBS screening. DESIGN Retrospective random chart audit of 330 women receiving intrapartum hospital care and retrospective chart audit of all infants with early-onset neonatal GBS disease over 2 years. SETTING Each of the 3 hospitals in Winnipeg, Man, offering intrapartum services. MAIN OUTCOME MEASURES Maternal charts were audited for history of prenatal GBS screening, GBS status, clinical risk factors for neonatal GBS transmission, and use of intrapartum antibiotics to prevent neonatal GBS infection. Neonatal GBS records were audited for maternal clinical risk factors for GBS transmission, history of maternal GBS screening and GBS status, use of maternal intrapartum antibiotic prophylaxis, and neonatal outcome. RESULTS Screening revealed a 26% GBS carrier rate in our population. Among these carriers, 70% (or 18% of the population) had no other clinical risk factors for neonatal GBS transmission. The transmission rate for untreated GBS-positive women was 1.74 per 1000 women. The differences in outcomes between universal and risk-based screening were small in our population. A total of 3449 women would require universal screening to prevent a single case of early-onset neonatal GBS disease that would occur if a risk-based approach were used (3 cases per year). This number increases to 68 966 to prevent a single GBS-related death (1 case in 7 years). An additional 679 women would receive intrapartum prophylactic antibiotics per year with universal screening than would have received antibiotics with a risk-based approach. CONCLUSION The differences in neonatal GBS transmission rates resulting from universal versus risk-based screening in Winnipeg require universal screening of many women for results to become apparent. Universal screening and antibiotic prophylaxis of all GBS carriers result in increased antibiotic exposure in our population, which might carry its own risks. Therefore, patients should be involved in decisions on whether to be screened based on identification of risks and benefits.

Konrad, Gerald; Katz, Alan

2007-01-01

65

Mortality in patients with early- or late-onset candidaemia  

PubMed Central

Objectives Although candidaemia is a well-known complication of hospital stay and has a crude mortality of ?40%, few data are available for episodes diagnosed within 10 days after hospital admission. In this paper, we compared the risk factors for mortality according to the onset of candidaemia. Methods This was a retrospective study of hospitalized patients with early-onset candidaemia (EOC; ?10 days) or late-onset candidaemia (LOC; >10 days) to identify any distinct clinical characteristics and risk factors for 30 day mortality in two Italian academic centres. Results A total of 779 patients were included in the study: 183 EOC and 596 LOC. Mortality was significantly lower in EOC (71/183, 38.8% versus 283/596, 47.5%, P?=?0.03). In EOC, multivariate analysis showed that inadequate initial antifungal therapy (IIAT) (P?=?0.005, OR 3.02, 95% CI 1.40–6.51), Candida albicans aetiology (P?=?0.02, OR 2.17, 95% CI 1.11–4.26) and older age (P?

De Rosa, Francesco Giuseppe; Trecarichi, Enrico Maria; Montrucchio, Chiara; Losito, Angela Raffaella; Raviolo, Stefania; Posteraro, Brunella; Corcione, Silvia; Di Giambenedetto, Simona; Fossati, Lucina; Sanguinetti, Maurizio; Serra, Roberto; Cauda, Roberto; Di Perri, Giovanni; Tumbarello, Mario

2013-01-01

66

Cognitive Function in Early Onset Schizophrenia: A Selective Review  

PubMed Central

Schizophrenia is widely regarded as the clinical outcome of aberrant neurodevelopment caused by a combination of genetic and non-genetic factors. Early Onset Schizophrenia (EOS) manifests in childhood or adolescence and represents a more severe variant of the Adult Onset form of the disorder (AOS). EOS offers a unique opportunity of exploring the impact of disease related mechanisms on the developmental trajectory of cognitive function. The present review focused on the domains of general intellectual ability (IQ), attention, executive function and memory. Significant methodological variability was noted across the different studies that examined these aspects of cognition in EOS patients. Despite this, a consistent pattern emergent from the data suggesting that (a) EOS patients compared to healthy children and adolescents show impairments of medium to large effect size in IQ, attention, memory and executive function (b) despite increased clinical severity, the cognitive profile of EOS patients is comparable to that of AOS patients (c) healthy adolescents show age-related improvement in their ability to perform tests of attention, memory and executive function; this is not present in EOS patients thus resulting in increased age-related deviance in patients’ performance. This apparent decline is mostly attributable to patients’ failure to acquire new information and to use more sophisticated cognitive strategies.

Frangou, Sophia

2009-01-01

67

Clinical characteristics and prognostic factors in early-onset alopecia totalis and alopecia universalis.  

PubMed

Alopecia totalis (AT) and alopecia universalis (AU), severe forms of alopecia areata (AA), show distinguishable clinical characteristics from those of patch AA. In this study, we investigated the clinical characteristics of AT/AU according to the onset age. Based on the onset age around adolescence (< or ? 13 yr), 108 patients were classified in an early-onset group and the other 179 patients in a late-onset group. We found that more patients in the early-onset group had a family history of AA, nail dystrophy, and history of atopic dermatitis than those in the late-onset group. These clinical differences were more prominent in patients with AU than in those with AT. In addition, significantly more patients with concomitant medical disorders, especially allergic diseases were found in the early-onset group (45.8%) than in the late-onset group (31.2%). All treatment modalities failed to show any association with the present hair condition of patients. In the early-onset group, patients with AU or a family history of AA showed worse prognosis, whereas this trend was not observed in the late-onset group. Systemic evaluations might be needed in early-onset patients due to the higher incidence of comorbid diseases. It is suggested that patients with AU or family history of AA make worse progress in the early-onset group than in the late-onset group. PMID:22787378

Cho, Hyun Hee; Jo, Seong Jin; Paik, Seung Hwan; Jeon, Hye Chan; Kim, Kyu Han; Eun, Hee Chul; Kwon, Oh Sang

2012-07-01

68

Clinical Characteristics and Prognostic Factors in Early-Onset Alopecia Totalis and Alopecia Universalis  

PubMed Central

Alopecia totalis (AT) and alopecia universalis (AU), severe forms of alopecia areata (AA), show distinguishable clinical characteristics from those of patch AA. In this study, we investigated the clinical characteristics of AT/AU according to the onset age. Based on the onset age around adolescence (< or ? 13 yr), 108 patients were classified in an early-onset group and the other 179 patients in a late-onset group. We found that more patients in the early-onset group had a family history of AA, nail dystrophy, and history of atopic dermatitis than those in the late-onset group. These clinical differences were more prominent in patients with AU than in those with AT. In addition, significantly more patients with concomitant medical disorders, especially allergic diseases were found in the early-onset group (45.8%) than in the late-onset group (31.2%). All treatment modalities failed to show any association with the present hair condition of patients. In the early-onset group, patients with AU or a family history of AA showed worse prognosis, whereas this trend was not observed in the late-onset group. Systemic evaluations might be needed in early-onset patients due to the higher incidence of comorbid diseases. It is suggested that patients with AU or family history of AA make worse progress in the early-onset group than in the late-onset group.

Cho, Hyun Hee; Jo, Seong Jin; Paik, Seung Hwan; Jeon, Hye Chan; Kim, Kyu Han; Eun, Hee Chul

2012-01-01

69

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

70

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

71

The unique experience of spouses in early-onset dementia.  

PubMed

To date, few studies have examined the experience of spouse caregivers living with a person with early-onset dementia. Moreover, few support resources are offered to these family caregivers and fewer are still tailored to their unique trajectory. The aim of this qualitative study was to document the lived experience of spouse caregivers of young patients in order to inform the development of professional support tailored to their reality. A sample of 12 spouses of persons diagnosed with dementia before the age of 65 participated in semistructured interviews. Six themes emerged from their caregiver trajectories, namely, difficulty managing behavioral and psychological symptoms, long quest for diagnosis, nondisclosure to others and denial of diagnosis, grief for loss of spouse and midlife projects, difficulty juggling unexpected role and daily life responsibilities, and difficulty planning for future. Results open up innovative avenues for the development of interventions geared to facilitating role transition for these spouse caregivers. PMID:23823140

Ducharme, Francine; Kergoat, Marie-Jeanne; Antoine, Pascal; Pasquier, Florence; Coulombe, Renée

2013-09-01

72

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

2013-12-01

73

Early Onset of Androgenetic Alopecia Associated With Early Severe Coronary Heart Disease: A Population-Based, Case-Control Study  

Microsoft Academic Search

Context The relationship of ischaemic heart disease (IHD) with androgenic alopecia (AGA) has been demonstrated, but no differentiation between early and late onsets of alopecia with regard to the risk and severity of IHD has been made.Objective To test if the early onset of alopecia is a risk factor for early severe, coronary artery disease (CAD) requiring surgery and to

Veikko A. Matilainen; Paavo K. Mäkinen; Sirkka M. Keinänen-Kiukaanniemi

2001-01-01

74

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

2012-08-01

75

Evaluation of marginal alveolar bone height for early detection of periodontal disease in pediatric population: clinical and radiographic study.  

PubMed

Objectives: To establish a normal range for the radiographic distance between cementoenamel junction and alveolar bone crest and the factors affecting distances for the early assessment of periodontal disease in Dravidian pediatric population. Methods: Fifty children aged 6 to 8 years were selected based on inclusion and exclusion criteria. Clinical and radiographic examination was performed. All the surfaces were examined starting from the distal surface of primary canine to the mesial surface of frst permanent molar. The various risk factors like plaque, calculus, proximal caries, restoration and bleeding on probing were recorded. A pair of bitewing radiographs was taken for each child. Bitewing radiographs were traced and analyzed. Results: It showed that CEJ-ABC distance in primary teeth is about 1 ± 0.5 mm. In the permanent teeth, it was found to be 0.6 ± 0.5 mm in 6 to 8 years age group. CEJ-ABC distance was also affected by different variables like physiologic (eruption and exfoliation) and pathologic factors (plaque, calculus, dental caries, restorations, stainless steel crowns, bleeding on probing and probing depth). Conclusion: CEJ-ABC distances greater than 2.5 mm should be considered under recall and follow-up. Children and adolescents susceptible to periodontal disease should be identifed by radiographic means as early as possible in order to prevent the advance of an otherwise possibly destructive disease. The concept of oral health examination and treatment must include examination of the periodontal status of the patient. Keywords: CEJ-ABC distance, Primary dentition, Radiographic examination, Gingivitis, Periodontitis, Alveolar bone. How to cite this article: Sardana V, Balappanavar AY, Deshpande S, Shigli A, Indushekar KR, Gogia G. Evaluation of Marginal Alveolar Bone Height for Early Detection of Periodontal Disease in Pediatric Population: Clinical and Radiographic Study. J Contemp Dent Pract 2014;15(1):37-45. Source of support: Nil Confict of interest: None. PMID:24939263

Sardana, Varun; Balappanavar, Aswini Y; Deshpande, Shobha; Shigli, Anand; Indushekar, Kr; Gogia, Guneet

2014-01-01

76

Rapid onset of efficacy of rasagiline in early Parkinson's disease.  

PubMed

Rasagiline is a monoamine oxidase type-B inhibitor used as monotherapy or in addition to levodopa in the treatment of Parkinson's disease (PD). This naturalistic single-blind study was aimed at evaluating the rapidity of onset effect of rasagiline on motor symptoms in a cohort of early relatively elderly PD patients. 102 outpatients (55 males, median age 71 years) have been selected: 26 were PD therapy-naive and 76 received rasagiline as add-on therapy. The third section of the Unified Parkinson's Disease Rating Scale (UPDRSIII) and the Hoehn-Yahr (HY) scale were assessed at baseline and after 1 and 4 weeks thereafter. The mean UPDRS III total score (-6.7 at week 1 and -8.9 at week 4) and single items, as well as mean HY score (-0.40 at week 1 and -0.67 at week 4), significantly decreased from baseline (p < 0.001). Improvements were significant in both therapy-naive and add-on therapy patients: the mean decreases from baseline to week 4 in UPDRSIII and HY score were -8.8 and -0.46, and -9.0 and -0.74, respectively, in the two subgroups. The mean decrease from baseline in UPDRSIII and HY score did not significantly differ in patients aged > or ?71 years. Rasagiline had a rapid therapeutic effect from the first week of therapy, which further improved at 4 weeks. The rapid onset of action and the absence of a dose titration are important issues in the management of the PD patient. PMID:23636872

Zambito Marsala, Sandro; Vitaliani, Roberta; Volpe, Daniele; Capozzoli, Francesca; Baroni, Luciana; Belgrado, Enrico; Borsato, Carlo; Gioulis, Manuela; Marchini, Corrado; Antonini, Angelo

2013-11-01

77

Differences between early and late onset Alzheimer's disease  

PubMed Central

Previous studies comparing early-onset Alzheimer’s disease (EOAD) and late-onset AD (LOAD) have been limited by cross-sectional design and a focus on isolated clinical variables. This study aims to explore differentials in clinical features between EOAD and LOAD and to examine longitudinally trends in cognitive function. Data from 3,747 subjects with AD from C-Path Online Data Repository was used to compare demographics, body mass index (BMI), mean arterial pressure (MAP), biochemistry and cognitive assessments, including mini-mental state examination (MMSE) and Alzheimer’s Disease Assessment Scale-cognitive subscale (ADAS-Cog), between EOAD and LOAD. The baseline differences were examined by binominal proportion test and t-test. The trends of cognitive functions, evaluating by MMSE and ADAS-Cog, were examined by the mixed model, controlling for the effect of repeated measures of the same person. No significant difference was found in BMI and MAP. C-reactive protein, creatinine and blood urea nitrogen (BUN) (p<0.05) were significantly higher in LOAD. The APOE ?4 alleles was more likely to be found among LOAD compared to APOE ?2 or APOE ?3. EOAD had significantly lower MMSE at baseline and this difference significantly increased over time. Despite an insignificant differential in ADAS-Cog between EOAD and LOAD at baseline, the differential was enlarged gradually and became more significant with time. Our findings suggest that elevated inflammatory markers, impaired renal function and APOE ?4 alleles are overrepresented in LOAD, possibly indicating that different factors determine the development of EOAD and its more rapid cognitive deterioration.

Panegyres, Peter K; Chen, Huei-Yang

2013-01-01

78

Pharmacotherapy of early-onset depression. Update and new directions.  

PubMed

Although an increased recognition of depressive disorders in youth represents a positive conceptual change over the past decades, there still is a very limited amount of research on useful treatment interventions. The paucity of data is particularly keen for the use of psychotropic drugs. For example, by applying the criteria suggested by the International Psychopharmacology Algorithm Project, there barely are enough first-grade ("Level A," meaning at least two RCTs) data supporting the short-term efficacy of antidepressants (the SSRIs) in the treatment of juvenile depression. And yet, limited data have not translated into limited use in routine clinical practice. In fact, the use of antidepressant medications has increased exponentially over the last decade, a change that is especially conspicuous for individuals less than 18 years of age. The perceived safety of the SSRIs and other novel antidepressants is partly at the root of their increased popularity. Data regarding their safety are likewise quite limited, however, and essentially are nonexistent for longer-term use. Based on the reviewed data, a medication algorithm for the treatment of early-onset depression can be suggested (Fig. 1). The algorithm underscores the need for adequate evaluation and diagnostic assessment, with particular attention to comorbid conditions (such as a bipolar diathesis) that may dictate alternative treatment strategies. In general, psychotherapy is the initial approach to juvenile MDD, with medication use reserved for more severe cases or those not responding to psychotherapy alone. Given that only two types of psychotherapy and two SSRIs have adequate controlled short-term efficacy data, all but the initial steps must be undertaken guided by clinical judgment and an individualized risk-benefit analysis. An algorithm such as this one, based on the very limited efficacy and safety data available, may be viewed as setting priorities for a comprehensive research agenda, more than dictating rigid treatment guidelines. In closing, it can be suggested that future research on the pharmacotherapy of early-onset depressive disorder pay particular attention to the following three aspects: 1. Too many drugs, too few data: Rapid advances in drug development have led to a plethora of available antidepressant agents. It is clear that there are many more agents available than can be adequately studied at present. Because many such agents are mechanistically similar, if not identical, it may be wise to focus research efforts on truly novel agents, particularly those (such as the CRH receptor antagonists, or those affecting neurosteroidogenesis) whose action is based on preclinical and clinical pathophysiologic disease paradigms. 2. Longitudinal follow-up and maintenance studies: Essentially all reviewed treatment studies have been short-term trials. There is a marked paucity of longer-term follow-up data, or of naturalistic and "real-world" effectiveness studies. For example, one of the few studies addressing maintenance pharmacotherapy for early-onset depression has demonstrated surprisingly high recurrence rates, even for those subjects actively on maintenance medication. 3. Long-term safety: Clinicians and parents alike often face difficult decisions regarding the long-term exposure of antidepressant drugs on the developing brain. Although no definitive long-term safety data are likely to become available anytime soon, real risks, such as suicide, and potential sequelae of long-term exposure to the underlying illness itself need all to be part of any decision-making process. Preclinical studies have shown that brain-derived neurotrophic factor (BDNF) levels can be upregulated by antidepressants, and low BDNF factors have been associated with atrophic brain changes in recurrent forms of adult MDD. Although these observations require specific application to juvenile forms of the disorder, they raise the exciting prospect that the natural course of the illne PMID:10674194

Martin, A; Kaufman, J; Charney, D

2000-01-01

79

Early onset of ghrelin production in a marsupial.  

PubMed

Ghrelin regulates appetite in mammals and can stimulate growth hormone (GH) release from the pituitary. In rats and humans, ghrelin cells appear in the stomach during late fetal life. Nevertheless, the role of ghrelin in early mammalian development is not well understood. Marsupials deliver highly altricial young that weigh less than 1g so they must feed and digest milk at a comparatively immature stage of development. Since they complete their growth and differentiation while in the pouch, they are accessible models in which to determine the time course of ghrelin production during development. We examined the distribution of gastric ghrelin cells, plasma ghrelin concentrations and pituitary expression of the ghrelin receptor (ghsr-1alpha) and GH in the tammar wallaby, Macropus eugenii. There were ghrelin immunopositive cells in the developing mesenchyme of the stomach from day 10 post partum (pp) to day 150pp. Subsequently ghrelin protein in the fore-stomach declined and was absent by day 250pp but remained in the gastric cells of the hind-stomach. Ghrelin was detected in the developing pancreas from day 10pp but was absent by day 150pp and in the adult. Pituitary ghsr-1alpha expression and plasma concentrations of ghrelin increased significantly up to day 70-120pp while GH expression was also elevated, declining with GH to reach adult levels by day 180pp. These results demonstrate an early onset of gastric ghrelin expression in the tammar in concert with a functional stomach at a relatively earlier stage than that of developmentally more mature eutherian young. PMID:19026714

Menzies, Brandon R; Shaw, Geoff; Fletcher, Terry P; Renfree, Marilyn B

2009-02-27

80

A Family Study of Alzheimer Disease and Early and Late-Onset Depression in Elderly Patients  

Microsoft Academic Search

Background: The substantial symptomatic overlap be- tween depression and dementia in old age may be ex- plained by common genetic vulnerability factors. Methods: We investigated this idea by comparing the occurrence of both disorders in first-degree relatives of 78 patients with Alzheimer disease (AD), of 74 with late- onset depression (onset age of $60 years), of 78 with early-onset depression,

Reinhard Heun; Andreas Papassotiropoulos; Frank Jessen; Wolfgang Maier; John C. S. Breitner; Cindy P. Helstad; Sarah H. Lisanby; Bruce Luber; Harold A. Sackeim; A. D. Finck; Charles Schroeder; P. J. Moore; J. C. Gillin; H. P. Landolt; Mark Rapaport; John Kelsoe; Eric Lewin Altschuler; Ansar Haroun; Bing Ho; Amy Weimer; Leisa A. Glantz; David A. Lewis

2001-01-01

81

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

82

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

83

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

84

Internalizing and Externalizing Behaviors as Predictors of Sexual Onset in Early Adolescence  

ERIC Educational Resources Information Center

This study had three goals: (a) assessing the predictive association of externalizing and internalizing behaviors during childhood with sexual onset during early adolescence; (b) examining the interactive link of externalizing and internalizing behaviors with early sexual onset; and (c) investigating the moderating effect of gender in this…

Boislard, Marie-Aude P.; Dussault, Frédéric; Brendgen, Mara; Vitaro, Frank

2013-01-01

85

Differences in impulsivity and sensation seeking between early- and late-onset alcoholics  

Microsoft Academic Search

The personality traits of impulsivity and sensation seeking have been proposed as important features of early-onset alcoholism. Early-onset (EOA, n=62) and late-onset (LOA, n=68 ) alcoholic inpatients were compared as to the severity of their substance use and related problems, and self-report scales measuring impulsivity (Barratt Impulsiveness Scale, version 11), sensation seeking (Sensation Seeking Scale), and aggressiveness (Buss Durkee Hostility

G. Dom; W. Hulstijn; B. G. C. C. Sabbe

2006-01-01

86

Walking strategies in subjects with congenital or early onset strabismus  

PubMed Central

Introduction: In congenital strabismus, sensory adaptations occur hampering the correct development of normal binocular vision. The aim of this study is to investigate if patients with congenital or early onset exotropic or esotropic strabismus adopt different walking strategies with respect to healthy subjects. Our hypothesis is that the abnormal binocular cooperation, occurring in patients with exotropic or esotropic strabismus, could influence neurosensorial adaptation of the gait pattern. Materials and Methods: Twenty-five patients were enrolled: 19 with esotropic (ESO) and 6 with exotropic strabismus (EXO). All patients underwent an ophthalmological and orthoptic evaluation. Biomechanical data were collected using a stereophotogrammetric system and a force platform. Twenty-seven age-matched healthy subjects (HS) were used as controls. Results: The comparison between patients with ESO and patients with EXO strabismus showed that the maximal power at the knee and at the ankle was lower in EXO group (p < 0.01 and p < 0.05, respectively). The step width was statistically different between ESO and EXO groups (p < 0.01), lower in patients with ESO and higher in patients with EXO strabismus when compared with HS (though not statistically significant). The deviation angle values showed a relationship with the step width (at the near fixation p < 0.05) and with the maximal power at the knee and at the ankle (at the far fixation for the knee p < 0.001 and for the ankle p < 0.05; at the near fixation for the knee p < 0.05): in the patients with EXO the increased angle deviation is related to larger step width and to lower power at the knee and at the ankle. In the patients with ESO strabismus this relationship is less robust. Discussion: Patients with EXO and ESO strabismus adopt different strategies to compensate their walking difficulties, and these strategies are likely due to an expanded binocular visual field in patients with EXO and to a reduced visual field in patients with ESO strabismus.

Aprile, Irene; Ferrarin, Maurizio; Padua, Luca; Di Sipio, Enrica; Simbolotti, Chiara; Petroni, Sergio; Tredici, Costanza; Dickmann, Anna

2014-01-01

87

Sildenafil citrate therapy for severe early-onset intrauterine growth restriction.  

PubMed

Sildenafil citrate therapy for severe early-onset intrauterine growth restriction. BJOG 2011;118:624-628. Currently, there is no effective therapy for severe early-onset intrauterine growth restriction (IUGR). Sildenafil citrate vasodilates the myometrial arteries isolated from women with IUGR-complicated pregnancies. Women were offered Sildenafil (25 mg three times daily until delivery) if their pregnancy was complicated by early-onset IUGR [abdominal circumference (AC)< 5th percentile] and either the gestational age was <25(+0) weeks or an estimate of the fetal weight was <600 g (excluding known fetal anomaly/syndrome and/or planned termination). Sildenafil treatment was associated with increased fetal AC growth [odds ratio, 12.9; 95% confidence interval (CI), 1.3, 126; compared with institutional Sildenafil-naive early-onset IUGR controls]. Randomised controlled trial data are required to determine whether Sildenafil improves perinatal outcomes for early-onset IUGR-complicated pregnancies. PMID:21392225

von Dadelszen, P; Dwinnell, S; Magee, L A; Carleton, B C; Gruslin, A; Lee, B; Lim, K I; Liston, R M; Miller, S P; Rurak, D; Sherlock, R L; Skoll, M A; Wareing, M M; Baker, P N

2011-04-01

88

Deficits in Facial Expression Recognition in Male Adolescents with Early-Onset or Adolescence-Onset Conduct Disorder  

ERIC Educational Resources Information Center

Background: We examined whether conduct disorder (CD) is associated with deficits in facial expression recognition and, if so, whether these deficits are specific to the early-onset form of CD, which emerges in childhood. The findings could potentially inform the developmental taxonomic theory of antisocial behaviour, which suggests that…

Fairchild, Graeme; Van Goozen, Stephanie H. M.; Calder, Andrew J.; Stollery, Sarah J.; Goodyer, Ian M.

2009-01-01

89

Early- versus late-onset systemic sclerosis: differences in clinical presentation and outcome in 1037 patients.  

PubMed

Peak age at onset of systemic sclerosis (SSc) is between 20 and 50 years, although SSc is also described in both young and elderly patients. We conducted the present study to determine if age at disease onset modulates the clinical characteristics and outcome of SSc patients. The Spanish Scleroderma Study Group recruited 1037 patients with a mean follow-up of 5.2 ± 6.8 years. Based on the mean ± 1 standard deviation (SD) of age at disease onset (45 ± 15 yr) of the whole series, patients were classified into 3 groups: age ? 30 years (early onset), age between 31 and 59 years (standard onset), and age ? 60 years (late onset). We compared initial and cumulative manifestations, immunologic features, and death rates. The early-onset group included 195 patients; standard-onset group, 651; and late-onset, 191 patients. The early-onset group had a higher prevalence of esophageal involvement (72% in early-onset compared with 67% in standard-onset and 56% in late-onset; p = 0.004), and myositis (11%, 7.2%, and 2.9%, respectively; p = 0.009), but a lower prevalence of centromere antibodies (33%, 46%, and 47%, respectively; p = 0.007). In contrast, late-onset SSc was characterized by a lower prevalence of digital ulcers (54%, 41%, and 34%, respectively; p < 0.001) but higher rates of heart conduction system abnormalities (9%, 13%, and 21%, respectively; p = 0.004). Pulmonary hypertension was found in 25% of elderly patients and in 12% of the youngest patients (p = 0.010). After correction for the population effects of age and sex, standardized mortality ratio was shown to be higher in younger patients. The results of the present study confirm that age at disease onset is associated with differences in clinical presentation and outcome in SSc patients. PMID:24646463

Alba, Marco A; Velasco, César; Simeón, Carmen Pilar; Fonollosa, Vicent; Trapiella, Luis; Egurbide, María Victoria; Sáez, Luis; Castillo, María Jesús; Callejas, José Luis; Camps, María Teresa; Tolosa, Carles; Ríos, Juan José; Freire, Mayka; Vargas, José Antonio; Espinosa, Gerard

2014-03-01

90

Benefits of Early Systemic Antibiotics in Localized Aggressive Periodontitis. A Retrospective Study  

PubMed Central

Treatment of localized aggressive periodontitis (LAP) may include systemic antibiotics, yet it is unclear at what stage of treatment planning antibiotics are most effective. Aim This retrospective analysis compared immediate vs. delayed antibiotic therapy on clinical parameters and gingival crevicular fluid (GCF) inflammatory mediators. Material and Methods At baseline, 3 and 6 months after treatment, clinical parameters [probing depth (PD), attachment level (CAL), bleeding on probing (BoP), and plaque] and GCF were collected from LAP participants, who received a 7-day antibiotic regimen immediately (ImA) or 3 months following (DelA) mechanical therapy. Results While both groups presented significant CAL reductions at 6 months, only ImA resulted in a reduction in mean PD at both 3 and 6 months, along with reductions in CAL and BoP at 3 months following therapy. In addition, GCF mediators were higher in DelA group at 3 months post-mechanical treatment, but were significantly reduced 6 months following antibiotic therapy. Conclusions ImA and DelA regimens were both effective in improving CAL by 6 months post-therapy. However, ImA allowed for better improvement in overall clinical parameters early in the course of treatment, concomitant with lower levels of inflammatory mediators within the GCF.

Beliveau, Dennis; Magnusson, Ingvar; Bidwell, John A.; Zapert, Edward F.; Aukhil, Ikramuddin; Wallet, Shannon M.; Shaddox, Luciana M.

2012-01-01

91

Assessment of L-arginine asymmetric 1 dimethyl (ADMA) in early-onset and late-onset (severe) preeclampsia.  

PubMed

Preeclampsia (PE) is characterized by hypertension and proteinuria. It has been classified in early or late according to gestational age at the onset of disease. Endothelial dysfunction plays a crucial part in its pathogenesis. NO is a potent vasodilator and ADMA is its endogenous inhibitor. We have assessed maternal ADMA levels. ADMA were increased in early [0.66 ?mol/L] versus late sPE [0.47 ?mol/L] (P=0.001) and versus normotensive pregnant [0.48 ?mol/L] (P=0.001). Our findings suggest that high ADMA levels in early sPE could compromise NO synthesis contributing to endothelial dysfunction, leading to impaired placentation and the onset of this disease. PMID:23876347

Alpoim, Patrícia Nessralla; Godoi, Lara Carvalho; Freitas, Letícia Gonçalves; Gomes, Karina Braga; Dusse, Luci Maria

2013-09-01

92

Early Onset Prostate Cancer Has A Significant Genetic Component  

PubMed Central

BACKGROUND Prostate cancer (PCa) affects more than 190,000 men each year with ~10% of men diagnosed at ? 55 years, i.e., early onset (EO) PCa. Based on historical findings for other cancers, EO PCa likely reflects a stronger underlying genetic etiology. METHODS We evaluated the association between EO PCa and previously identified single nucleotide polymorphisms (SNPs) in 754 Caucasian cases from the Michigan Prostate Cancer Genetics Project (mean 49.8 years at diagnosis), 2,713 Caucasian controls from Illumina’s iControlDB database and 1,163 PCa cases diagnosed at >55 years from the Cancer Genetic Markers of Susceptibility Study (CGEMS). RESULTS Significant associations existed for 13 of 14 SNPs (rs9364554 on 6q25, rs10486567 on 7p15, rs6465657 on 7q21, rs6983267 on 8q24, rs1447295 on 8q24, rs1571801 on 9q33, rs10993994 on 10q11, rs4962416 on 10q26, rs7931342 on 11q13, rs4430796 on 17q12, rs1859962 on 17q24.3, rs2735839 on 19q13, and rs5945619 on Xp11.22, but not rs2660753 on 3p12). EO PCa cases had a significantly greater cumulative number of risk alleles (mean 12.4) than iControlDB controls (mean 11.2; p=2.1×10?33) or CGEMS cases (mean 11.9; p=1.7 × 10?5). Notably, EO PCa cases had a higher frequency of the risk allele than CGEMS cases at 11 of13 associated SNPs, with significant differences for five SNPs. EO PCa cases diagnosed at <50 (mean 12.8) also had significantly more risk alleles than those diagnosed at 50–55 years (mean 12.1; p = 0.0003). CONCLUSIONS These results demonstrate the potential for identifying PCa-associated genetic variants by focusing on the subgroup of men diagnosed with EO disease.

Lange, Ethan M.; Salinas, Claudia A.; Zuhlke, Kimberly A.; Ray, Anna M.; Wang, Yunfei; Lu, Yurong; Ho, Lindsey A.; Luo, Jingchun; Cooney, Kathleen A.

2011-01-01

93

Increased Genetic Vulnerability to Smoking at CHRNA5 in Early-Onset Smokers  

PubMed Central

Context Recent studies have shown an association between cigarettes per day (CPD) and a nonsynonymous single-nucleotide polymorphism in CHRNA5, rs16969968. Objective To determine whether the association between rs16969968 and smoking is modified by age at onset of regular smoking. Data Sources Primary data. Study Selection Available genetic studies containing measures of CPD and the genotype of rs16969968 or its proxy. Data Extraction Uniform statistical analysis scripts were run locally. Starting with 94 050 ever-smokers from 43 studies, we extracted the heavy smokers (CPD >20) and light smokers (CPD ?10) with age-at-onset information, reducing the sample size to 33 348. Each study was stratified into early-onset smokers (age at onset ?16 years) and late-onset smokers (age at onset >16 years), and a logistic regression of heavy vs light smoking with the rs16969968 genotype was computed for each stratum. Meta-analysis was performed within each age-at-onset stratum. Data Synthesis Individuals with 1 risk allele at rs16969968 who were early-onset smokers were significantly more likely to be heavy smokers in adulthood (odds ratio [OR]=1.45; 95% CI, 1.36–1.55; n=13 843) than were carriers of the risk allele who were late-onset smokers (OR = 1.27; 95% CI, 1.21–1.33, n = 19 505) (P = .01). Conclusion These results highlight an increased genetic vulnerability to smoking in early-onset smokers.

Hartz, Sarah M.; Short, Susan E.; Saccone, Nancy L.; Culverhouse, Robert; Chen, LiShiun; Schwantes-An, Tae-Hwi; Coon, Hilary; Han, Younghun; Stephens, Sarah H.; Sun, Juzhong; Chen, Xiangning; Ducci, Francesca; Dueker, Nicole; Franceschini, Nora; Frank, Josef; Geller, Frank; Gu?bjartsson, Daniel; Hansel, Nadia N.; Jiang, Chenhui; Keskitalo-Vuokko, Kaisu; Liu, Zhen; Lyytikainen, Leo-Pekka; Michel, Martha; Rawal, Rajesh; Hum, Sc; Rosenberger, Albert; Scheet, Paul; Shaffer, John R.; Teumer, Alexander; Thompson, John R.; Vink, Jacqueline M.; Vogelzangs, Nicole; Wenzlaff, Angela S.; Wheeler, William; Xiao, Xiangjun; Yang, Bao-Zhu; Aggen, Steven H.; Balmforth, Anthony J.; Baumeister, Sebastian E.; Beaty, Terri; Bennett, Siiri; Bergen, Andrew W.; Boyd, Heather A.; Broms, Ulla; Campbell, Harry; Chatterjee, Nilanjan; Chen, Jingchun; Cheng, Yu-Ching; Cichon, Sven; Couper, David; Cucca, Francesco; Dick, Danielle M.; Foroud, Tatiana; Furberg, Helena; Giegling, Ina; Gu, Fangyi; Hall, Alistair S.; Hallfors, Jenni; Han, Shizhong; Hartmann, Annette M.; Hayward, Caroline; Heikkila, Kauko; Lic, Phil; Hewitt, John K.; Hottenga, Jouke Jan; Jensen, Majken K.; Jousilahti, Pekka; Kaakinen, Marika; Kittner, Steven J.; Konte, Bettina; Korhonen, Tellervo; Landi, Maria-Teresa; Laatikainen, Tiina; Leppert, Mark; Levy, Steven M.; Mathias, Rasika A.; McNeil, Daniel W.; Medland, Sarah E.; Montgomery, Grant W.; Muley, Thomas; Murray, Tanda; Nauck, Matthias; North, Kari; Pergadia, Michele; Polasek, Ozren; Ramos, Erin M.; Ripatti, Samuli; Risch, Angela; Ruczinski, Ingo; Rudan, Igor; Salomaa, Veikko; Schlessinger, David; Styrkarsdottir, Unnur; Terracciano, Antonio; Uda, Manuela; Willemsen, Gonneke; Wu, Xifeng; Abecasis, Goncalo; Barnes, Kathleen; Bickeboller, Heike; Boerwinkle, Eric; Boomsma, Dorret I.; Caporaso, Neil; Duan, Jubao; Edenberg, Howard J.; Francks, Clyde; Gejman, Pablo V.; Gelernter, Joel; Grabe, Hans Jorgen; Hops, Hyman; Jarvelin, Marjo-Riitta; Viikari, Jorma; Kahonen, Mika; Kendler, Kenneth S.; Lehtimaki, Terho; Levinson, Douglas F.; Marazita, Mary L.; Marchini, Jonathan; Melbye, Mads; Mitchell, Braxton D.; Murray, Jeffrey C.; Nothen, Markus M.; Penninx, Brenda W.; Raitakari, Olli; Rietschel, Marcella; Rujescu, Dan; Samani, Nilesh J.; Sanders, Alan R.; Schwartz, Ann G.; Shete, Sanjay; Shi, Jianxin; Spitz, Margaret; Stefansson, Kari; Swan, Gary E.; Thorgeirsson, Thorgeir; Volzke, Henry; Wei, Qingyi; Wichmann, H.-Erich; Amos, Christopher I.; Breslau, Naomi; Cannon, Dale S.; Ehringer, Marissa; Grucza, Richard; Hatsukami, Dorothy; Heath, Andrew; Johnson, Eric O.; Kaprio, Jaakko; Madden, Pamela; Martin, Nicholas G.; Stevens, Victoria L.; Stitzel, Jerry A.; Weiss, Robert B.; Kraft, Peter; Bierut, Laura J.

2012-01-01

94

Comparison of the Bacterial Etiology of Early-Onset and Late-Onset Ventilator-Associated Pneumonia in Subjects Enrolled in 2 Large Clinical Studies  

PubMed Central

BACKGROUND Ventilator-associated pneumonia (VAP) is classified as early-onset or late-onset, in part, to identify subjects at risk for infection with resistant pathogens. We assessed differences in the bacterial etiology of early-onset versus late-onset VAP. METHODS Subjects enrolled in 2004–2006 in 2 clinical studies of doripenem versus imipenem or piperacillin/tazobactam, with a diagnosis of VAP (n = 500) were included in the analysis. Subjects were classified by ventilator status: early-onset VAP (< 5 d of ventilation) or late-onset VAP (? 5 d of ventilation). Baseline demographics and bacterial etiology were analyzed by VAP status. RESULTS Late-onset VAP subjects had higher Acute Physiology and Chronic Health Evaluation (APACHE II) scores (mean 16.6 versus 15.5, P = .008). There were no significant differences in Clinical Pulmonary Infection Score, sex, age, or presence of bacteremia between the groups. A total of 496 subjects had a baseline pathogen, and 50% of subjects in each group had ? 2 pathogens. With the exception of Staphylococcus aureus, which was common in early-onset VAP, the pathogens (including potentially multidrug-resistant (MDR) pathogens) isolated from early-onset versus late-onset VAP were not significantly different between groups. Acinetobacter baumannii or Pseudomonas aeruginosa with decreased susceptibility to any study drug was observed in early-onset and late-onset VAP subjects. CONCLUSIONS There were no significant differences in the prevalence of potential MDR pathogens associated with early-onset or late-onset VAP, even in subjects with prior antibiotics. Empiric therapy for early-onset VAP should also include agents likely to be effective for potential MDR pathogens. Further prospective studies should evaluate microbiology trends in subjects with VAP.

Restrepo, Marcos I; Peterson, Janet; Fernandez, Juan F; Qin, Zhihai; Fisher, Alan C; Nicholson, Susan C

2014-01-01

95

External validation of a model for periconceptional prediction of recurrent early-onset preeclampsia.  

PubMed

Objective: To validate a previously published prediction model for recurrent early-onset preeclampsia (PE). Methods: We included 229 pregnant women with a history of early-onset PE and computed their risk using the prediction model, compared the predicted risk to their pregnancy outcomes and assessed performance of the model. Results: Early-onset PE recurred in 6.6% of participants. The area under the receiver operating characteristic curve was 59% (95% CI: 45-73). The model created groups that were only moderately different in terms of their risk. Conclusions: The model's discriminate ability was poor and predictive performance insufficient to classify women into relevant risk groups. PMID:24392844

van Kuijk, S M; Delahaije, D H; Dirksen, C D; Scheepers, H C; Spaanderman, M E; Ganzevoort, W; Duvekot, J J; Oudijk, M A; van Pampus, M G; von Dadelszen, P; Peeters, L L; Smits, L J

2014-08-01

96

Cortisol Diurnal Rhythm and Stress Reactivity in Male Adolescents with Early-Onset or Adolescence-Onset Conduct Disorder  

PubMed Central

Background Previous studies have reported lower basal cortisol levels and reduced cortisol responses to stress in children and adolescents with conduct disorder (CD). It is not known whether these findings are specific to early-onset CD. This study investigated basal and stress-induced cortisol secretion in male participants with early-onset and adolescence-onset forms of CD. Methods Forty-two participants with early-onset CD, 28 with adolescence-onset CD, and 95 control subjects participated in the study. They collected saliva across the day to assess their cortisol awakening response and diurnal rhythm. Subsequently, salivary cortisol was measured before, during, and after a psychosocial stress procedure designed to elicit frustration. Cardiovascular activity and subjective mood states were also assessed during stress exposure. Results There were no group differences in morning cortisol levels or the size of the cortisol awakening response. Basal cortisol levels in the evening and at 11 am during the laboratory visit were higher in both CD subgroups relative to control subjects. In contrast, cortisol and cardiovascular responses to psychosocial stress were reduced in both CD subgroups compared with control subjects. All groups reported similar increases in negative mood states during stress. Conclusions Our findings suggest that group differences in cortisol secretion are most pronounced during stress exposure, when participants with CD show cortisol hyporeactivity compared with control subjects. There was no evidence for reduced basal cortisol secretion in participants with CD, but rather increased secretion at specific time points. The results do not support developmentally sensitive differences in cortisol secretion between CD subtypes.

Fairchild, Graeme; van Goozen, Stephanie H.M.; Stollery, Sarah J.; Brown, Jamie; Gardiner, Julian; Herbert, Joe; Goodyer, Ian M.

2008-01-01

97

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

98

Atypical MRI features at early onset natalizumab-associated progressive multifocal leukoencephalopathy: a case report.  

PubMed

We report the case of a woman with natalizumab-treated Multiple Sclerosis (MS) that developed progressive multifocal leukoencephalopathy (PML) with atypical MRI features at early onset. This case shows that PML can have variable radiological patterns in natalizumab-treated MS patients thus expanding the possible MRI patterns at onset in these patients. PMID:24642511

Piola, Mirko; Di Palma, Franco; Mascoli, Nerina; Binda, Sandro; Arnaboldi, Marco; Rezzonico, Monica

2014-05-15

99

Late- versus early-onset geriatric depression in a memory research center  

PubMed Central

Objective To contrast early-onset (<60 years) and late-onset (>60 years) depression in geriatric patients by evaluating differences in cognition, vascular comorbidity and sociological risk factors. Both patient groups were compared with normal subjects. Materials and methods We recruited 76 patients with depressive symptoms (37 late onset and 39 early onset) and 17 normal controls matched by age and educational level. All subjects were assessed using a semistructured neuropsychiatric interview and an extensive neuropsychological battery. Vascular and sociological risk factors were also evaluated. Results We found a significant variation in performance between depressive patients and normal controls in most cognitive functions, especially memory (P < 0.0001), semantic fluency (P < 0.0001), verbal fluency, and digit-symbol (P < 0.0001). Late-onset depression patients scored lower and exhibited more severe impairment in memory domains than early-onset depression patients (P < 0.05). Cholesterol levels and marital status were significantly (P < 0.05) different between the depressive groups. Both depressed groups (early- and late-onset) were more inactive than controls (P < 0.05; odds ratio: 6.02). Conclusion Geriatric depression may be a manifestation of brain degeneration, and the initial symptom of a dementia. It is important to consider this in the treatment of patients that exhibit late-onset depressive symptoms.

Dillon, Carol; Allegri, Ricardo F; Serrano, Cecilia M; Iturry, Monica; Salgado, Pablo; Glaser, Frank B; Taragano, Fernando E

2009-01-01

100

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

101

Global and Temporal Cortical Folding in Patients with Early-Onset Schizophrenia  

ERIC Educational Resources Information Center

Disturbances in the temporal lobes and alterations in cortical folding in adult on-set schizophrenia are studied using magnetic resonance T1 images of 51 patients. The study showed that patients with early on-set schizophrenia had lower global sulcal indices in both hemispheres and the left collateral sulcus has a lower sulcal index irrespective…

Penttila, Jani; Paillere-Martinot, Marie-Laure; Martinot, Jean-Luc; Mangin, Jean-Francois; Burke, Lisa; Corrigall, Richard; Frangou, Sophia; Cachia, Arnaud

2008-01-01

102

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

103

Epilepsy With Myoclonic Absences With Early Onset: A Follow-Up Study  

Microsoft Academic Search

We studied six children (four girls and two boys) suffering from cryptogenic myoclonic absence seizures with early onset. The age at onset of the seizures ranged between 6 and 27.8 months (mean age ± SD: 18.5 ± 12.4 months). The neurologic evaluation was normal in all patients at the first hospital admission. After the diagnosis, we followed up all children

Alberto Verrotti; Rita Greco; Francesco Chiarelli; Sergio Domizio; Giuseppe Sabatino; Guido Morgese

1999-01-01

104

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

105

Aggressive and acute periodontal diseases.  

PubMed

Inflammatory periodontal diseases are highly prevalent, although most of these diseases develop and progress slowly, often unnoticed by the affected individual. However, a subgroup of these diseases include aggressive and acute forms that have a relatively low prevalence but show a rapid-course, high rate of progression leading to severe destruction of the periodontal tissues, or cause systemic symptoms that often require urgent attention from healthcare providers. Aggressive periodontitis is an early-onset, destructive disease that shows a high rate of periodontal progression and distinctive clinical features. A contemporary case definition of this disease is presented. Population studies show that the disease is more prevalent in certain geographic regions and ethnic groups. Aggressive periodontitis is an infectious disease, and recent data show that in affected subjects the subgingival microbiota is composed of a mixed microbial infection, with a wide heterogeneity in the types and proportions of microorganisms recovered. Furthermore, there are significant differences in the microbiota of the disease among different geographic regions and ethnicities. There is also evidence that the Aggregatibacter actinomycetemycomitans-JP2 clone may play an important role in the development of the disease in certain populations. The host response plays an important role in the susceptibility to aggressive periodontitis, where the immune response may be complex and involve multiple mechanisms. Also, genetic factors seem to play an important role in the pathogenesis of this disease, but the mechanisms of increased susceptibility are complex and not yet fully understood. The available data suggest that aggressive periodontitis is caused by mutations either in a few major genes or in multiple small-effect genes, and there is also evidence of gene-gene and gene-environment interaction effects. Diagnostic methods for this disease, based on a specific microbiologic, immunologic or genetic profile, currently do not exist. Genetic markers have the potential to be implemented as screening tools to identify subjects at risk. This approach may significantly enhance treatment outcome through the early detection and treatment of affected subjects, as well as using future approaches based on gene therapy. At present, the treatment of this disease is directed toward elimination of the subgingival bacterial load and other local risk factors. Adjunctive use of appropriate systemic antibiotics is recommended and may contribute to a longer suppression of the microbial infection. Other aggressive forms of periodontal diseases occur in patients who are affected with certain systemic diseases, including the leukocyte adhesion deficiency syndrome, Papillon-Lefèvre syndrome, Chediak-Higashi syndrome and Down syndrome. Management of the periodontal component of these diseases is very challenging. Acute gingival and periodontal lesions include a group of disorders that range from nondestructive to destructive forms, and these lesions are usually associated with pain and are a common reason for emergency dental consultations. Some of these lesions may cause a rapid and severe destruction of the periodontal tissues and loss of teeth. Oral infections, particularly acute infections, can spread to extra-oral sites and cause serious medical complications, and even death. Hence, prompt diagnosis and treatment are paramount. PMID:24738583

Albandar, Jasim M

2014-06-01

106

Early onset problem behaviors and alcohol, tobacco, and other substance use disorders in young adulthood  

Microsoft Academic Search

ObjectiveTen early onset problem behaviors were used to prospectively predict alcohol, tobacco, cannabis, and cocaine disorders in young adulthood (mean age=28.6yrs) for a U.S. community sample of 671 participants.

Michael Windle; Rebecca C. Windle

107

Purpura fulminans in three cases of early-onset neonatal group B streptococcal meningitis.  

PubMed

The diagnosis of purpura fulminans was associated with three cases of early-onset group B beta-hemolytic streptococcal (GBS) disease. All three infants had confirmed bacterial disease, extensive purpuric lesions involving the extremities, and laboratory evidence of a consumptive coagulopathy. All three children survived but had markedly compromised neurologic outcomes. Purpura fulminans has not been previously reported with early-onset GBS disease. PMID:1890473

Lynn, N J; Pauly, T H; Desai, N S

1991-06-01

108

Obesity and Low-Grade Inflammation among Young Finnish Men with Early-Onset Alopecia  

Microsoft Academic Search

Background: Previous investigations have revealed an association of androgenetic alopecia (AGA), especially in younger subjects with severe early-onset AGA, with ischemic heart disease. Objective: To examine the possible association between early-onset alopecia and low-grade inflammation measured by high-sensitivity C-reactive protein (hs-CRP) that has been recommended for the assessment of the cardiovascular disease (CVD) risk. Methods: The study population consisted of

Päivi Hirsso; Ulla Rajala; Liisa Hiltunen; Jari Jokelainen; Sirkka Keinänen-Kiukaanniemi; Simo Näyhä

2007-01-01

109

Early recognition improves prognosis in elderly onset RA. .  

PubMed

Although commonly diagnosed in the third to fifth decades of life, the incidence and prevalence of RA continue to increase up to the ninth decade. Age at onset is particularly relevant as the presentation may differ in elderly onset RA (EORA) compared with young onset RA (YORA). Patients with EORA frequently report a more acute presentation, especially if positive for rheumatoid factor (RF). Fever, fatigue and weight loss appear to be more common in EORA. Although small joints are most frequently involved in the RA population overall, there is common involvement of large joints in EORA and these proximal symptoms may mimic polymyalgia rheumatica (PMR). In YORA, approximately 80% of patients are seropositive for RF however a lower frequency has been reported in EORA. Anti-CCP antibodies have been detected in over 70% of patients with RA and are highly specific for RA. The value of anti-CCP antibodies is even higher in patients with an atypical presentation (e.g. PMR-like symptoms), or those who are RF negative. X-rays of the hands and feet should always be performed in patients with a suspected inflammatory arthritis. Baseline joint erosions are present in a similar proportion in patients with YORA and EORA. In the elderly, the differential diagnosis of RA is extensive as many conditions present in a similar way e.g. PMR, osteoarthritis, polyarticular gout, pseudogout and malignancy. Anti-CCP antibodies are very useful for identifying EORA patients with a polymyalgic onset. Ultrasonography or MRI can also be helpful in differentiating PMR from EORA. PMID:24617098

Negoescu, Andra; Ostör, Andrew J K

2014-01-01

110

Substance abuse treatment patients with early onset cocaine use respond as well to contingency management interventions as those with later onset cocaine use.  

PubMed

Early onset drug use is associated with increased risk of developing substance use disorders, but relatively little is known about the correlates of early drug use among adults receiving treatment. A retrospective analysis of a randomized study of contingency management treatment compared cocaine-dependent patients who reported initial cocaine use at age 14 or younger (n=41) to those who began using after age 14 (n=387). Patients with early onset cocaine use had more legal and psychiatric problems than those who initiated cocaine use later. Patients with early-onset cocaine use also dropped out of treatment sooner and achieved less sustained abstinence than those who began using at older ages, but the interaction between age of first use and treatment condition was not significant. Early-onset cocaine use is associated with persistent psychosocial problems and an overall poor response to treatment. However, contingency management is efficacious in improving outcomes in early onset cocaine users. PMID:24865619

Weiss, Lindsay M; Petry, Nancy M

2014-08-01

111

Parental Alcohol Use and Brain Volumes in Early and Late-Onset Alcoholics  

PubMed Central

Background Studies have shown that alcoholics have smaller brain volumes than non-alcoholic cohorts, but an effect of family history of heavy drinking on brain volume has not been demonstrated. We examined the relationship between a family history of heavy drinking and both brain shrinkage as measured by the ratio of brain volumes to intracranial volume (ICV) as well as maximal brain growth as measured by ICV in early-onset and late-onset alcoholics. Methods Using T1-weighted resonance imaging, we measured ICV, brain volume, and white and gray matter volume in adult treatment-seeking late-onset and early-onset alcoholics with either a positive or a negative family history (FH) of heavy alcohol use, and in healthy controls. We also calculated brain shrinkage using a ratio of soft tissue volumes to ICV. Results FH positive alcoholic patients had significantly smaller ICVs than FH negative patients, suggesting smaller premorbid brain growth. Brain shrinkage did not correlate with FH. Late-onset alcoholics showed a greater difference in ICV between FH positive and FH negative patients than early-onset alcoholics. Late-onset FH positive patients also had significantly lower IQ scores than late-onset FH negative patients, and IQ scores were correlated with ICV. Conclusions These data provide evidence that parental alcohol use may increase risk for alcoholism in offspring in part by a genetic and/or environmental effect that may be related to reduced brain growth.

Gilman, Jodi M.; Bjork, James M.; Hommer, Daniel W.

2007-01-01

112

Recent onset disequilibrium mimicking acute vestibulopathy in early multiple sclerosis.  

PubMed

The differential diagnosis of patients with acute unilateral vestibulopathy rests in the proper clinical assessment and use of selected tests of vestibular function. In case of a central nervous system lesion as in Multiple Sclerosis, the case shown here, it is of particular importance to observe congruency between severity of symptoms and signs and, of topographic diagnosis. We report a case of a 37 year old woman with recent onset disequilibrium that after careful analysis of the different test results several incongruences were found; this prompted a radiological study that provided the clue to diagnosis. After treatment the patient recovered completely not only clinically but also in vestibular deficit. PMID:24746632

Barona-Lleo, Luz; Zulueta-Santos, Cristina; Murie-Fernandez, Manuel; Pérez-Fernández, Nicolas

2014-01-01

113

Early onset problem behavior, young adult psychopathology, and contextual risk.  

PubMed

A prospective study of 692 male twins was undertaken to investigate the relationships among early adolescent problem behavior, contextual risk, and disinhibitory psychopathology. Early adolescent problem behavior was assessed by the number of the following behaviors engaged in by the time of the age-14 assessment: (1) tobacco use, (2) alcohol use, (3) marijuana use, (4) other illicit drug use, (5) sexual intercourse, and (6) police contact. Contextual risk was assessed as a composite of measures of peer models, parent-offspring conflict, and academic engagement from the age-14 assessment. Disinhibitory psychopathology was assessed by symptoms of nicotine dependence, alcohol dependence, drug dependence, and adult antisocial behavior at the age-18 assessment. Early adolescent problem behavior and contextual risk were strongly correlated (r = .53) and both were strongly and independently associated with symptoms of disinhibitory psychopathology (r from .35 to .60). The association of early adolescent problem behavior with both contextual risk and disinhibitory psychopathology was mediated entirely by genetic factors while the association between contextual risk and disinhibitory psychopathology was mediated by both genetic and nonshared environmental factors. The results are discussed in the context of emerging research on the prognostic significance of early adolescent problem behavior for risk of adult psychopathology. PMID:17539364

Keyes, Margaret A; Iacono, William G; McGue, Matt

2007-02-01

114

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

115

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

116

Early-onset chronic inflammatory disease associated with maternal microchimerism.  

PubMed

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. PMID:22924145

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

2012-01-01

117

Genome-Wide Association Scan for Variants Associated with Early-Onset Prostate Cancer  

PubMed Central

Prostate cancer is the most common non-skin cancer and the second leading cause of cancer related mortality for men in the United States. There is strong empirical and epidemiological evidence supporting a stronger role of genetics in early-onset prostate cancer. We performed a genome-wide association scan for early-onset prostate cancer. Novel aspects of this study include the focus on early-onset disease (defined as men with prostate cancer diagnosed before age 56 years) and use of publically available control genotype data from previous genome-wide association studies. We found genome-wide significant (p<5×10?8) evidence for variants at 8q24 and 11p15 and strong supportive evidence for a number of previously reported loci. We found little evidence for individual or systematic inflated association findings resulting from using public controls, demonstrating the utility of using public control data in large-scale genetic association studies of common variants. Taken together, these results demonstrate the importance of established common genetic variants for early-onset prostate cancer and the power of including early-onset prostate cancer cases in genetic association studies.

Lange, Ethan M.; Johnson, Anna M.; Wang, Yunfei; Zuhlke, Kimberly A.; Lu, Yurong; Ribado, Jessica V.; Keele, Gregory R.; Li, Jin; Duan, Qing; Li, Ge; Gao, Zhengrong; Li, Yun; Xu, Jianfeng; Isaacs, William B.; Zheng, Siqun; Cooney, Kathleen A.

2014-01-01

118

Early-onset absence epilepsy aggravated by valproic acid: a video-EEG report.  

PubMed

Early-onset absence epilepsy refers to patients with absence seizures beginning before age 4 and comprises a heterogeneous group of epilepsies. Onset of absence seizures in the first year of life is very rare. We report a boy with absence seizures with onset at age 11 months, whose seizures increased in frequency after the introduction of valproic acid (VPA) treatment and substantially improved upon cessation of treatment. The mechanism of seizure worsening did not involve VPA toxicity, encephalopathy, Glut-1 deficiency or overdosage, and the reason for absence seizure aggravation remained unclear. The patient showed complete control of absence seizures with levetiracetam treatment and the course was benign, both in terms of seizure control and neuropsychological aspects. The similar overall electroclinical picture and outcome between children with early-onset absences and those with CAE support the view that these conditions are a continuum within the wide spectrum of IGE. [Published with video sequences]. PMID:24169439

Belcastro, Vincenzo; Caraballo, Roberto Horacio; Romeo, Antonino; Striano, Pasquale

2013-12-01

119

Brain Structure Changes Visualized in Early- and Late-Onset Blind Subjects  

PubMed Central

We examine 3D patterns of volume differences in the brain associated with blindness, in subjects grouped according to early and late onset. Using tensor-based morphometry, we map volume reductions and gains in 16 early-onset (EB) and 16 late-onset (LB) blind adults (onset <5 and >14 years old, respectively) relative to 16 matched sighted controls. Each subject’s structural MRI was fluidly registered to a common template. Anatomical differences between groups were mapped based on statistical analysis of the resulting deformation fields revealing profound deficits in primary and secondary visual cortices for both blind groups. Regions outside the occipital lobe showed significant hypertrophy, suggesting widespread compensatory adaptations. EBs but not LBs showed deficits in the splenium and hypertrophy in the isthmus. Gains in the isthmus and non-occipital white matter were more widespread in the EBs. These differences may reflect regional alterations in late neurodevelopmental processes, such as myelination, that continue into adulthood.

Lepore, Natasha; Voss, Patrice; Lepore, Franco; Chou, Yi-Yu; Fortin, Madeleine; Gougoux, Frederic; Lee, Agatha D.; Brun, Caroline; Lassonde, Maryse; Madsen, Sarah K.; Toga, Arthur W.; Thompson, Paul M.

2009-01-01

120

Apolipoprotein E4 allele in a population-based study of early-onset Alzheimer's disease  

Microsoft Academic Search

Several studies have reported an association of the apolipoprotein E allele epsilon 4 (APOE*4) to familial and sporadic late-onset Alzheimer's disease (LOAD). Here we report on the relationship between APOE*4 and early-onset Alzheimer's disease (EOAD) in a Dutch population-based study. The frequency of the APOE*4 allele was 2.3 times higher among EOAD cases compared to controls. Among patients, the allele

Duijn van C. M; Peter de Knijff; Marc Cruts; Anita Wehnert; Louis M. Havekes; Broeckhoven van C; A. Hofman

1994-01-01

121

Phenomenology and Outcome of Subjects With Early and Adult-Onset Psychotic Mania  

Microsoft Academic Search

Objective: This study examined clinical differences between subjects with early-onset and adult-onset psychotic mania. Method: Subjects were from an epidemiologically de- rived, hospitalized sample who met criteria for definite bipolar disorder after 24 months of follow-up and whose index episode had been manic. Information collected regarding demo- graphic characteristics, psychotic and depressive symptoms, childhood behavior problems and school functioning, substance\\/alcohol

Gabrielle A. Carlson; Evelyn J. Bromet; Sylvia Sievers

2000-01-01

122

Blood group A: an overseen risk factor for early-onset ovarian hyperstimulation syndrome?  

Microsoft Academic Search

Ovarian hyperstimulation syndrome (OHSS), a potentially life-threatening complication, is classified into two distinct forms, early-onset and late-onset OHSS. Few risk factors have been established, but no association with ABO blood group antigens was known. From January 2000 to October 2007, 122 patients with known blood groups and the diagnosis of OHSS were hospitalized. OHSS classification, pregnancies, age and time of

Helge Binder; Willy A Flegel; Jasmin Emran; Andreas Müller; Susanne Cupisti; Matthias W Beckmann; Reinhold Eckstein; Ralf Dittrich; Juergen Ringwald

2008-01-01

123

Early onset and focal spike discharges as indicators of poor prognosis for myoclonic-astatic epilepsy.  

PubMed

Background: Myoclonic-astatic epilepsy (MAE) is an epileptic syndrome characterized by unique myoclonus, myoclonic-astatic, or astatic seizures in childhood. MAE prognosis vary from spontaneous remission to intractable seizures with profound mental retardation. Aim: Identifying early risk factors may optimize the treatment of children with MAE. Our hypothesis is early onset age and focal spike discharges on EEG indicate a poor MAE prognosis. Methods: Using the medical records of 9 children with MAE, we analyzed their clinical histories, EEG findings, and seizure symptoms. All patients were given follow-up observations/treatments by our department for at least 2years after MAE onset. Results: Five of the patients were given favorable prognoses because their seizures disappeared within 2years of onset; the other 4 received poor prognoses because their seizures continued more than 2years. MAE onset in patient with refractory seizures was earlier than that in those with a favorable prognosis (7-24months vs. 23-38months). All the patients with refractory seizures showed moderate or severe mental retardation. Among the 5 patients with good prognosis, EEGs showed two with focal spike discharges and three with only generalized spike discharges. In contrast, all cases with a poor prognosis had focal spike discharges. Conclusions: MAE onset in patients with refractory seizures occurs earlier than in those with favorable prognosis. Prognosis was excellent when EEG findings show no focal spike discharges. Both early seizure onset and the focal spike discharges associated with MAE are indicators of poor prognosis. PMID:24055341

Inoue, Takahito; Ihara, Yukiko; Tomonoh, Yuko; Nakamura, Noriko; Ninomiya, Shinya; Fujita, Takako; Ideguchi, Hiroshi; Yasumoto, Sawa; Zhang, Bo; Hirose, Shinichi

2014-08-01

124

Pediatric sleep apnea: early onset of the 'syndrome'?  

PubMed

Obstructive sleep apnea is a common disorder in childhood, particularly in the last decade when an increased prevalence of obesity has been documented. The neurocognitive and behavioral problems associated with this disorder have been known for a long time. However, the increased knowledge of cardiovascular and metabolic complications in adults with sleep apnea has been followed by a better understanding of the systemic effects of upper airway obstruction in children. Obstructive sleep apnea (OSA) has been shown to induce autonomic imbalance in children and to affect blood pressure, cerebral blood flow and cardiac function in an early phase. OSA may also induce chronic systemic inflammation and may contribute to the development of metabolic syndrome in obese children. Very recent research indicates that in children primary snoring, the mildest form of the sleep-disordered breathing spectrum, may also be associated with morbidity. It is, therefore, likely that these respiratory sleep disorders do not simply influence children's' performance in private and social life, but may more seriously affect children's' health. The aim of this review is to outline early systemic complications of obstructive sleep apnea and primary snoring in infants and children. PMID:19058983

Spicuzza, Lucia; Leonardi, Salvatore; La Rosa, Mario

2009-04-01

125

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

2006-03-01

126

Differences in impulsivity and sensation seeking between early- and late-onset alcoholics.  

PubMed

The personality traits of impulsivity and sensation seeking have been proposed as important features of early-onset alcoholism. Early-onset (EOA, n=62) and late-onset (LOA, n=68 ) alcoholic inpatients were compared as to the severity of their substance use and related problems, and self-report scales measuring impulsivity (Barratt Impulsiveness Scale, version 11), sensation seeking (Sensation Seeking Scale), and aggressiveness (Buss Durkee Hostility Inventory). The symptom severity of the EOAs' alcohol-use disorder and related problems was higher than that of the LOAs. Furthermore, the EOAs had higher levels of impulsivity, sensation seeking, and aggression relative to the LOAs. The differences in impulsivity remained after an analysis controlling for the effect of aggressiveness. Finally, cigarette smoking was positively correlated with impulsiveness across alcoholic subgroups. Active screening for impulsive traits in treatment-seeking alcohol-abusing populations is recommended to improve treatment planning and prevent early drop-out. PMID:15949898

Dom, G; Hulstijn, W; Sabbe, B

2006-02-01

127

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

PubMed Central

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 episode and 98 healthy controls. Results A decrease in antioxidant defense was found in patients, measured as decreased TAS and glutathione levels. Lipid damage (LOOH) and glutathione peroxidase activity was higher in patients than controls. Our study shows a decrease in the antioxidant defense system in early onset first episode psychotic patients. Conclusions Glutathione deficit seems to be implicated in psychosis, and may be an important indirect biomarker of oxidative stress in early-onset schizophrenia. Oxidative damage is present in these patients, and may contribute to its pathophysiology.

2011-01-01

128

Early Smoking Onset and Risk for Subsequent Nicotine Dependence: A Monozygotic Co-Twin Control Study  

PubMed Central

Objective Early onset of regular smoking is associated with an elevated risk for later nicotine dependence. Whether or not this association is causal is unknown and has substantial public policy implications. Method The authors used a monozygotic co-twin control study design. Pairs were selected from the Virginia Adult Twin Study of Psychiatric and Substance Use Disorders for discordance in age at onset of regular smoking. Nicotine dependence was measured by the Fagerström Test for Nicotine Dependence and level of craving. Results The authors identified 175 male-male and 69 female-female monozygotic twin pairs who differed by at least 2 years in age at onset of regular smoking. During their period of heaviest smoking, the twin who began smoking earlier had significantly higher Fagerström Test scores in both the male-male (Cohen’s d=0.20) and female-female twin pairs (d=0.26). Craving for cigarettes when unable to smoke was also higher in the early-onset member in both groups (male pairs, d=0.38; female pairs, d=0.25). The early-onset smoking twin did not differ from the later-onset twin in symptoms of alcohol or cannabis abuse or dependence, current alcohol use, or maximal level of cannabis, sedative, stimulant, or cocaine use. Conclusions Controlling for genetic and familial-environmental effects, age at onset of regular smoking predicted level of nicotine dependence. Consistent with the animal literature, these findings suggest that in humans, early nicotine exposure directly increases level of later nicotine dependence. These results should be interpreted in the context of the-methodological strengths and limitations of the monozygotic co-twin design.

Kendler, Kenneth S.; Myers, John; Damaj, M. Imad; Chen, Xianging

2013-01-01

129

Absence of ghrelin protects against early-onset obesity  

PubMed Central

The gut peptide ghrelin, the endogenous ligand for the growth hormone secretagogue receptor, has been implicated not only in the regulation of pituitary growth hormone (GH) secretion but in a number of endocrine and nonendocrine functions, including appetitive behavior and carbohydrate substrate utilization. Nevertheless, recent genetic studies have failed to show any significant defects in GH levels, food intake, or body weight in adult ghrelin-deficient (Ghrl?/?) mice. Here we demonstrate that male Ghrl?/? mice are protected from the rapid weight gain induced by early exposure to a high-fat diet 3 weeks after weaning (6 weeks of age). This reduced weight gain was associated with decreased adiposity and increased energy expenditure and locomotor activity as the animals aged. Despite the absence of ghrelin, these Ghrl?/? mice showed a paradoxical preservation of the GH/IGF-1 axis, similar to that reported in lean compared with obese humans. These findings suggest an important role for endogenous ghrelin in the metabolic adaptation to nutrient availability.

Wortley, Katherine E.; del Rincon, Juan-Pablo; Murray, Jane D.; Garcia, Karen; Iida, Keiji; Thorner, Michael O.; Sleeman, Mark W.

2005-01-01

130

Early onset seizures and Rett-like features associated with mutations in CDKL5.  

PubMed

Mutations in the CDKL5 gene (also known as STK9) have recently been shown to cause early onset epilepsy and severe mental retardation (ISSX or West syndrome). Patients with CDKL5 mutations sometimes also show features similar to those seen in Rett Syndrome (RTT). We have screened the CDKL5 gene in 94 patients with RTT or a RTT-like phenotype who had tested negative for MECP2 mutations (13 classical RTT female subjects, 25 atypical RTT female subjects, 40 RTT-like female and 16 RTT-like male subjects; 33 of the patients had early onset seizures). Novel pathogenic CDKL5 mutations were identified in three girls, two of whom had initially been diagnosed with the early onset seizure variant of RTT and the other with early onset seizures and some features of RTT. In addition, the 33 patients with early seizures were screened for the most common mutations in the ARX gene but none were found. Combining our three new cases with the previously published cases, 13/14 patients with CDKL5 mutations presented with seizures before the age of 3 months. PMID:16015284

Evans, Julie C; Archer, Hayley L; Colley, James P; Ravn, Kirstine; Nielsen, Jytte Bieber; Kerr, Alison; Williams, Elizabeth; Christodoulou, John; Gécz, Jozef; Jardine, Philip E; Wright, Michael J; Pilz, Daniela T; Lazarou, Lazarus; Cooper, David N; Sampson, Julian R; Butler, Rachel; Whatley, Sharon D; Clarke, Angus J

2005-10-01

131

[Early onset psychosis: rationale and concept of a cognitive-behavioral intervention].  

PubMed

Early onset psychoses (EOP, age of onset between age 14 and 18 years) are known to be associated with a poorer outcome than adult onset psychoses, both in terms of psychotic symptoms and social remission. For adult patients with psychosis, numerous cognitive-behavioral interventions have proven their effectiveness in recent years. This contrasts with a dearth of findings for EOP, even though it can be considered as a variant of adult onset psychosis. Thus, we have developed a cognitive-behavioral therapy intervention that was specifically adapted to the characteristics and needs of young people suffering from psychosis. The concept of the intervention is outlined in the present article. Acceptability and feasibility of the intervention are currently undergoing evaluation in a randomised, controlled pilot study. PMID:21870313

Güttgemanns, J; Büch, A; Sevecke, K; Döpfner, M; Lehmkuhl, G; Herrlich, J; Müller, K; Wiedemann, G; Klingberg, S; Bechdolf, A

2011-09-01

132

Cardiovascular and cognitive fitness at age 18 and risk of early-onset dementia.  

PubMed

Patients with early-onset dementia are a significantly under-recognized subgroup of patients with an increasing prevalence. Epidemiological studies are limited and studies of modifiable risk factors, such as physical fitness, are lacking. We aimed to investigate the associations between cardiovascular fitness individually and in combination with cognitive performance at age 18 and risk of early-onset dementia and mild cognitive impairment later in life. We performed a population-based cohort study of over 1.1 million Swedish, 18-year-old, male conscripts, who underwent conscription exams between 1968 and 2005. These males were then followed for up to 42 years. Objective data on cardiovascular fitness and cognitive performance were collected during conscription exams and were subsequently linked with hospital registries to calculate later risk of early-onset dementia and mild cognitive impairment using Cox proportional hazards models controlling for several confounders. The scores from the exams were divided into tertiles (low, medium, high) for the analyses. The mean follow-up time for the analyses was 25.7 years (standard deviation: 9.3) and the median was 27 years. In total, 30 195 315 person-years of follow-up were included in the study. In fully adjusted models, both low cardiovascular fitness and cognitive performance (compared to high) at age 18 were associated with increased risk for future early-onset dementia (cardiovascular fitness, n = 662 events: hazard ratio 2.49, 95%, confidence interval 1.87-3.32; cognitive performance, n = 657 events: hazard ratio 4.11, 95%, confidence interval 3.19-5.29) and mild cognitive impairment (cardiovascular fitness, n = 213 events: hazard ratio 3.57, 95%, confidence interval 2.23-5.74; cognitive performance, n = 212 events: hazard ratio 3.23, 95%, confidence interval 2.12-4.95). Poor performance on both cardiovascular fitness and cognitive tests was associated with a >7-fold (hazard ratio 7.34, 95%, confidence interval 5.08-10.58) and a >8-fold (hazard ratio 8.44, 95%, confidence interval 4.64-15.37) increased risk of early-onset dementia and early-onset mild cognitive impairment, respectively. In conclusion, lower cardiovascular fitness and cognitive performance in early adulthood were associated with an increased risk of early-onset dementia and mild cognitive impairment later in life, and the greatest risks were observed for individuals with a combination of low cardiovascular fitness and low cognitive performance. PMID:24604561

Nyberg, Jenny; Åberg, Maria A I; Schiöler, Linus; Nilsson, Michael; Wallin, Anders; Torén, Kjell; Kuhn, H Georg

2014-05-01

133

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

134

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

PubMed Central

Purpose Our knowledge regarding older users of illicit drugs is limited despite their increasing numbers. In this paper 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 Qualitative data were collected from 29 older heroin users. Life course analysis focused on the users’ experiences across the life span. Results The findings suggest that those aging-into heroin use (late-onset) are disadvantaged compared to those who are maturing-in (early-onset) except in areas of health. Implications We propose that conceptualizing the use of heroin and other illicit drugs among older adults based on their life course trajectory will provide insights for social and health services, including drug treatment.

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

2013-01-01

135

Very early onset and greater vulnerability in schizophrenia: A clinical and neuroimaging study.  

PubMed

Although schizophrenia has been diagnosed in children, this group of disorders has received too little attention in the clinical and research literature. Preliminary data suggest that early onset schizophrenia (EOS) and very early onset schizophrenia (VEOS) tend to have a worse outcome than adult onset schizophrenia, and seem to be related to a greater familial vulnerability, due to genetic, psychosocial, and environmental factors. Recently, advanced neuroimaging techniques have revealed structural and functional brain abnormalities in some cerebral areas. This paper reports on a case diagnosed as VEOS, with premorbid year-long psychopathological history. The patient showed atypical proton magnetic resonance spectroscopy findings, and normal brain and spine computer tomography and brain magnetic resonance images. PMID:19043525

Margari, Francesco; Presicci, Anna; Petruzzelli, Maria Giuseppina; Ventura, Patrizia; Di Cuonzo, Franca; Palma, Michele; Margari, Lucia

2008-08-01

136

Very early onset and greater vulnerability in schizophrenia: A clinical and neuroimaging study  

PubMed Central

Although schizophrenia has been diagnosed in children, this group of disorders has received too little attention in the clinical and research literature. Preliminary data suggest that early onset schizophrenia (EOS) and very early onset schizophrenia (VEOS) tend to have a worse outcome than adult onset schizophrenia, and seem to be related to a greater familial vulnerability, due to genetic, psychosocial, and environmental factors. Recently, advanced neuroimaging techniques have revealed structural and functional brain abnormalities in some cerebral areas. This paper reports on a case diagnosed as VEOS, with premorbid year-long psychopathological history. The patient showed atypical proton magnetic resonance spectroscopy findings, and normal brain and spine computer tomography and brain magnetic resonance images.

Margari, Francesco; Presicci, Anna; Petruzzelli, Maria Giuseppina; Ventura, Patrizia; Di Cuonzo, Franca; Palma, Michele; Margari, Lucia

2008-01-01

137

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

138

Pre\\/Early Adolescent Onset of Gambling and Psychosocial Problems in Treatment-Seeking Pathological Gamblers  

Microsoft Academic Search

This study examined the association between pre- or early-adolescent onset of gambling and severity of gambling and psychosocial problems in treatment-seeking adult pathological gamblers. A total of 236 pathological gamblers entering outpatient treatment completed the South Oaks Gambling Screen (SOGS) and the Addiction Severity Index (ASI). Using a quartile split procedure, gamblers who began gambling during their pre- or early-adolescent

Alesia N. Burge; Robert H. Pietrzak; Nancy M. Petry

2006-01-01

139

Traumatic experiences and posttraumatic stress disorders: differences between treatment-seeking early- and late-onset alcoholic patients.  

PubMed

Childhood traumatic experiences have been suggested to relate to early-onset alcoholism and to negatively influence the severity and course of alcohol use disorders. Early-onset alcoholic (n = 54) and late-onset alcoholic (n = 65) inpatients were compared as to the severity of their childhood traumatic experiences, prevalence of current and lifetime posttraumatic stress disorder (PTSD), and depressive symptoms. The early-onset alcoholic patients had a higher number and more severe childhood traumatic experiences compared with the late-onset alcoholic patients. More female than male alcohol-dependent patients had lifetime PTSD diagnosis. Finally, specifically within the female alcoholic patients the severity of early childhood experiences was positively associated with the severity of current substance use and related problems. Within early-onset alcoholic treatment-seeking populations, active screening for childhood traumatic experiences and current PTSD is advised in view of treatment planning. PMID:17292709

Dom, Geert; De Wilde, Bieke; Hulstijn, Wouter; Sabbe, Bernard

2007-01-01

140

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

141

CDKL5 and ARX mutations in males with early-onset epilepsy  

PubMed Central

Mutations in CDKL5 and ARX are known causes of early-onset epilepsy and severe developmental delay in males and females. While numerous males with ARX mutations associated with various phenotypes have been reported in the literature, the majority of CDKL5 mutations have been identified in females with a phenotype characterized by early-onset epilepsy, severe global developmental delay, absent speech, and stereotypic hand movements. To date, only ten males with CDKL5 mutations have been reported. Our retrospective study reports on the clinical, neuroimaging and molecular findings of 18 males with early-onset epilepsy caused by either CDKL5 or ARX mutations. The 18 patients include eight new males with CDKL5 mutations and ten with ARX mutations identified through sequence analysis of 266 and 346 males, respectively, at our molecular diagnostic laboratory. Our large data set therefore expands on the number of reported males with CDKL5 mutations and highlights that aberrations of CDKL5 and ARX combined are an important consideration in the genetic forms of early-onset epilepsy.

Mirzaa, Ghayda M.; Paciorkowski, Alex R.; Marsh, Eric D.; Berry-Kravis, Elizabeth M.; Medne, Livija; Grix, Art; Wirrell, Elaine C.; Powell, Berkley R.; Nickels, Katherine C.; Burton, Barbara; Paras, Andrea; Kim, Katherine; Chung, Wendy; Dobyns, William B.; Das, Soma

2013-01-01

142

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

143

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

144

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

145

Does Theory of Mind Performance Differ in Children with Early-Onset and Regressive Autism?  

ERIC Educational Resources Information Center

A deficit in theory of mind (ToM), or the ability to infer the mental states of others, has been implicated as one of the major characteristics of Autism Spectrum Disorder (ASD); however, little attention has been devoted to possible differences in ToM ability within ASD. The current study examined ToM performance in children with early-onset

Matthews, Nicole L.; Goldberg, Wendy A.; Lukowski, Angela F.; Osann, Kathryn; Abdullah, Maryam M.; Ly, Agnes R.; Thorsen, Kara; Spence, M. Anne

2012-01-01

146

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

147

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

148

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

149

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

150

Onset and Early Behavioral Effects of Pharmacologically Different Antidepressants and Placebo in Depression  

Microsoft Academic Search

This study was aimed at resolving the time course of clinical action of antidepressants (ADs) and the type of early behavioral changes that precede recovery in treatment-responsive depressed patients. The first goal was to identify, during the first 2 weeks of treatment, the onset of clinical actions of the selective serotonin reuptake inhibitor (SSRI), paroxetine, and the selective noradrenergic reuptake

Martin M Katz; Janet L Tekell; Charles L Bowden; Steve Brannan; John P Houston; Nancy Berman; Alan Frazer

2004-01-01

151

Neurocognitive Outcomes in the Treatment of Early-Onset Schizophrenia Spectrum Disorders Study  

ERIC Educational Resources Information Center

Objective: To assess neurocognitive outcomes following antipsychotic intervention in youth enrolled in the National Institute of Mental Health (NIMH)-funded Treatment of Early-Onset Schizophrenia Spectrum Disorders (TEOSS). Method: Neurocognitive functioning of youth (ages 8 to 19 years) with schizophrenia or schizoaffective disorder was evaluated…

Frazier, Jean A.; Giuliano, Anthony J.; Johnson, Jacqueline L.; Yakutis, Lauren; Youngstrom, Eric A.; Breiger, David; Sikich, Linmarie; Findling, Robert L.; McClellan, Jon; Hamer, Robert M.; Vitiello, Benedetto; Lieberman, Jeffrey A.; Hooper, Stephen R.

2012-01-01

152

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

153

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

154

Assessing Age of Onset Effects in (Early) Child L2 Acquisition  

ERIC Educational Resources Information Center

This study compares the development of three different types of bilingual/second language children in their acquisition of gender-marking on adjectives in Dutch to investigate whether there is evidence for age-of-onset effects in early childhood as proposed by Meisel (2009). The three groups of children are: simultaneous bilingual children,…

Unsworth, Sharon

2013-01-01

155

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

156

Unusual case of severe cholestasis of pregnancy with early onset, improved by ursodeoxycholic acid administration  

Microsoft Academic Search

An exceptional case of early onset and prolonged postpartum course of intrahepatic cholestasis of pregnancy is described. Contrary to other drugs tested, ursodeoxycholic acid administered after the 29th week of gestation improved pruritus and decreased bile acid levels both in serum and amniotic fluid. Labour was induced at 36 weeks, and a female weighing 2.050 g and with an Apgar

Dora Brites; Cec??lia M. P Rodrigues; Maria da Conceição Cardoso; Lu??s M Graça

1998-01-01

157

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

PubMed Central

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 meningitis fell significantly from a peak of 0.24/1000 live births in 1993 to 0.03/1000 in 2002 (p trend = 0.002). There was no significant change over time in the incidence of Escherichia coli meningitis. The rate of EONBM in very low birthweight babies was 1.09/1000 compared with the rate in all infants of 0.11/1000. The overall rate of EONBM was 0.41/1000 in 1992 and 0.06 in 2001, but this trend was not significant (p trend = 0.07). Case-fatality rates for EONBM did not change significantly with time. Birth weight <1500 g (odds ratio (OR) 7.2 (95% confidence interval (CI) 4.8 to 10.9)) and Gram negative bacillary meningitis (OR 3.3 (95% CI 2.2 to 4.9)) were significant risk factors for mortality. Sixty two percent of the 129 babies who died from early onset sepsis or suspected sepsis did not have a lumbar puncture performed. Conclusion: The incidence of early onset group B streptococcal meningitis has fallen, probably because of maternal intrapartum antibiotic prophylaxis, without a corresponding change in E coli meningitis. Gram negative bacillary meningitis still carries a worse prognosis than meningitis with a Gram positive organism.

May, M; Daley, A; Donath, S; Isaacs, D; on, b

2005-01-01

158

Study protocol: EXERcise and Cognition In Sedentary adults with Early-ONset dementia (EXERCISE-ON)  

PubMed Central

Background Although the development of early-onset dementia is a radical and invalidating experience for both patient and family there are hardly any non-pharmacological studies that focus on this group of patients. One type of a non-pharmacological intervention that appears to have a beneficial effect on cognition in older persons without dementia and older persons at risk for dementia is exercise. In view of their younger age early-onset dementia patients may be well able to participate in an exercise program. The main aim of the EXERCISE-ON study is to assess whether exercise slows down the progressive course of the symptoms of dementia. Methods/Design One hundred and fifty patients with early-onset dementia are recruited. After completion of the baseline measurements, participants living within a 50 kilometre radius to one of the rehabilitation centres are randomly assigned to either an aerobic exercise program in a rehabilitation centre or a flexibility and relaxation program in a rehabilitation centre. Both programs are applied three times a week during 3?months. Participants living outside the 50 kilometre radius are included in a feasibility study where participants join in a daily physical activity program set at home making use of pedometers. Measurements take place at baseline (entry of the study), after three months (end of the exercise program) and after six months (follow-up). Primary outcomes are cognitive functioning; psychomotor speed and executive functioning; (instrumental) activities of daily living, and quality of life. Secondary outcomes include physical, neuropsychological, and rest-activity rhythm measures. Discussion The EXERCISE-ON study is the first study to offer exercise programs to patients with early-onset dementia. We expect this study to supply evidence regarding the effects of exercise on the symptoms of early-onset dementia, influencing quality of life. Trial registration The present study is registered within The Netherlands National Trial Register (ref: NTR2124)

2012-01-01

159

Distinct breast cancer subtypes in women with early-onset disease across races  

PubMed Central

Background: Racial disparities among breast cancer (BCa) patients are known but not well studied in early-onset BCa. We analyzed molecular subtypes in early-onset BCa across five major races. Methods: A total of 2120 cases were included from non-Hispanic White (NHW), African American (AA) and Hispanic, Chinese and Indian. Based on ER, PR and HER-2 status, BCa was classified into 4 intrinsic subtypes as Luminal A, Luminal B, HER2/neu overexpression and Triple negative BCa (TNBC) subtypes. Data was stratified according to race and age as younger/early-onset group (40-years and younger) and older group (50-years and older). Results: In early-onset BCa, incidence of TNBC was significantly higher (p = 0.0369) in Indian women followed by AA, Hispanic, NHW and Chinese women. Incidence of Her2 over-expression subtype also was highest in Indian women, followed by Hispanic, Chinese, AA and NHW women. In contrast, Luminal B subtype was most significantly higher in AA women (p = 0.0000) followed by NHW (p = 0.0002), Chinese (p = 0.0003), Hispanic (0.0128) and Indian (p = 0.0468) women. Luminal A subtype was most significantly reduced in Indian women (p = 0.0113) followed by Hispanic, AA, NHW and Chinese women. These results were based on statistical analysis with the mean of older group populations. Conclusions: These results show significant disparities in receptor subtypes across races. This study will contribute in developing optimal clinical trial protocols and personalized management strategies for early-onset BCa patients.

Singh, Mandeep; Ding, Yi; Zhang, Li-Ying; Song, Dong; Gong, Yun; Adams, Sylvia; Ross, Dara S; Wang, Jin-Hua; Grover, Shruti; Doval, Dinesh Chandra; Shao, Charles; He, Zi-Li; Chang, Victor; Chin, Warren W; Deng, Fang-Ming; Singh, Baljit; Zhang, David; Xu, Ru-Liang; Lee, Peng

2014-01-01

160

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

161

NEUROPSYCHOLOGICAL AND NEUROIMAGING MARKERS IN EARLY VS. LATE-ONSET ALZHEIMER'S DISEASE  

PubMed Central

Background Early-onset Alzheimer’s disease (EOAD) has been overshadowed by the more common late-onset AD (LOAD). Yet, the literature indicates EOAD may have less hippocampal-memory presentations and more focal neocortical localization early in the disease. Objective To evaluate these proposed differences between these two forms of AD and to explore what they inform about differences in AD-pathophysiology. Methods 21 EOAD and 24 LOAD patients matched for disease progression and severity were compared on neurocognitive measures and resting state fluorodeoxy-glucose positron emission tomography (FDG-PET). Results EOAD patients had worse executive functions with greater hypometabolism in the parietal regions; whereas LOAD patients had worse confrontation naming and verbal recognition memory with greater hypometabolism in inferior frontotemporal regions. Conclusions In addition to highlighting significant differences between EOAD and LOAD, these results reveal dissociation between executive deficits in AD and frontal hypometabolism, suggesting early disturbances of the parietal-frontal network in EOAD.

Kaiser, Natalie C.; Melrose, Rebecca J.; Liu, Collin; Sultzer, David L.; Jimenez, Elvira; Su, Michael; Monserratt, Lorena; Mendez, Mario F.

2014-01-01

162

Novel presenilin mutations within Moroccan patients with Early-Onset Alzheimer's Disease.  

PubMed

Alzheimer's disease (AD) is a progressive brain disorder that causes gradual and irreversible loss of higher brain functions and is the most common cause of dementia in the elderly, as assessed by autopsy and clinical series. Furthermore, it has an annual incidence of approximately 3% in the 65-74-year-old age group. This incidence rate doubles with every increment of 5years above the age of 65. In Morocco, AD affects almost 30,000 individuals and this number will possibly increase to 75,000 by 2020 (projections of the World Health Organization (WHO)). Genetically, AD is caused by a mutation in one of at least 3 genes: presenilin 1 (PS1), presenilin 2 (PS2) and the amyloid precursor protein (APP). Most cases are late onset and apparently sporadic, most likely as a result of a combination of environmental and non-dominant genetic factors. In Morocco, the genes predisposing individuals to AD and predicting disease incidence remain elusive. The purpose of the present study was to evaluate the genetic contribution of mutations in PS1 and PS2 genes to familial early-onset AD cases and sporadic late-onset AD cases. Seventeen sporadic late-onset AD cases and eight familial early-onset AD cases were seen at the memory clinic of the University of Casablanca Neurology Department. These patients underwent standard somatic neurological examination, cognitive function assessment, brain imaging and laboratory tests. Direct sequencing of each exon in PS1 and PS2 genes was performed on genomic DNA of AD patients. Further, we identified 1 novel frameshift mutation in the PS1 gene and 2 novel frameshift mutations in the PS2 gene. Our mutational analysis reports a correlation between clinical symptoms and genetic factors in our cases of Early-Onset Alzheimer's Disease (EOAD). These putative mutations cosegregate with affected family members suggesting a direct mutagenic effect. PMID:24704512

El Kadmiri, N; Zaid, N; Zaid, Y; Tadevosyan, A; Hachem, A; Dubé, M-P; Hamzi, K; El Moutawakil, B; Slassi, I; Nadifi, S

2014-06-01

163

DRD3 variation associates with early-onset heroin dependence, but not specific personality traits.  

PubMed

Dopamine D3 receptor-mediated pathways are involved in the mechanism of addiction, and genetic factors play a role in the vulnerability to heroin dependence. The aim of this study was to examine whether the corresponding gene, DRD3, is associated with the development of heroin dependence and specific personality traits in HD patients. Eight polymorphisms in DRD3 were analyzed in 1067 unrelated Han Chinese subjects (566 heroin dependence patients and 501 controls). All participants were screened using the same assessment tool and all patients met the criteria for heroin dependence. A Tridimensional Personality Questionnaire was used to assess personality traits in 276 heroin dependence patients. In addition, heroin dependence patients were divided into 4 clinical subgroups based on age-of-onset and family history of substance abuse, to reduce the clinical heterogeneity. The rs6280 and rs9825563 variants showed association with the development of early-onset heroin dependence. The GTA haplotype frequency in the block (rs324029, rs6280, rs9825563) was significantly associated with early-onset heroin dependence (p=0.003). However, these significant associations were weaker after Bonferroni's correction. In addition, these DRD3 polymorphisms did not influence novelty seeking and harm avoidance scores in HD patients. DRD3 is possibly a genetic factor in the development of early-onset heroin dependence, but is not associated with specific personality traits in these patients among the Han Chinese population. PMID:24398431

Kuo, Shin-Chang; Yeh, Yi-Wei; Chen, Chun-Yen; Huang, Chang-Chih; Chang, Hsin-An; Yen, Che-Hung; Ho, Pei-Shen; Liang, Chih-Sung; Chou, Han-Wei; Lu, Ru-Band; Huang, San-Yuan

2014-06-01

164

EARLY ONSET OF DELINQUENCY AND THE TRAJECTORY OF ALCOHOL-IMPAIRED DRIVING AMONG YOUNG MALES*  

PubMed Central

Building upon the literature in developmental and life-course criminology, the present study assesses the possible association of age onset of delinquency with the trajectory of alcohol-impaired driving using data collected from the three waves of the Buffalo Longitudinal Survey of Young Men (BLSYM). It is argued that as a unique form of delinquency, alcohol-impaired driving among adolescents may be better understood in a broad context of adolescent delinquency involvement. The study adopts the general approach for the analysis of early onset of delinquency and criminal careers in developmental and life-course criminology and hypothesizes that early onset of delinquency is associated with a higher growth of alcohol-impaired driving over time among adolescents when age onsets of alcohol-impaired driving, drinking, and drug use are controlled. Our analysis with the HLM growth modeling method provides support for the hypothesis. Respondents who had an early start in delinquency were likely to have a faster growth of alcohol-impaired driving over the three waves of BLSYM, which implies that these respondents were likely to have a longer path of alcohol-impaired driving in their transition to adulthood. The implication of this finding is discussed.

Zhang, Lening; Wieczorek, William F.; Welte, John W.

2011-01-01

165

Abnormal gamma and beta MEG activity during finger movements in early onset psychosis  

PubMed Central

Patients with psychosis often exhibit abnormalities in basic motor control, but little is known about the neural basis of these deficits. This study examines the neuro-dynamics of movement using magnetoencephalography (MEG) in adolescents with early-onset psychosis and typically-developing controls. MEG data were imaged using beamforming then evaluated for task and group effects before, during, and after movement onsets. Primary findings included weaker activation in patients during movement execution in cerebellar cortices. Such aberrations likely contribute to the decreased motor control exhibited by patients with psychosis, and may reflect GABAergic-based inhibitory deficits comparable to those seen in cellular and system-level studies.

Wilson, Tony W.; Slason, Erin; Asherin, Ryan; Kronberg, Eugene; Teale, Peter D.; Reite, Martin L.; Rojas, Donald C.

2011-01-01

166

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

167

Modified areal cartography in auditory cortex following early- and late-onset deafness.  

PubMed

Cross-modal plasticity following peripheral sensory loss enables deprived cortex to provide enhanced abilities in remaining sensory systems. These functional adaptations have been demonstrated in cat auditory cortex following early-onset deafness in electrophysiological and psychophysical studies. However, little information is available concerning any accompanying structural compensations. To examine the influence of sound experience on areal cartography, auditory cytoarchitecture was examined in hearing cats, early-deaf cats, and cats with late-onset deafness. Cats were deafened shortly after hearing onset or in adulthood. Cerebral cytoarchitecture was revealed immunohistochemically using SMI-32, a monoclonal antibody used to distinguish auditory areas in many species. Auditory areas were delineated in coronal sections and their volumes measured. Staining profiles observed in hearing cats were conserved in early- and late-deaf cats. In all deaf cats, dorsal auditory areas were the most mutable. Early-deaf cats showed further modifications, with significant expansions in second auditory cortex and ventral auditory field. Borders between dorsal auditory areas and adjacent visual and somatosensory areas were shifted ventrally, suggesting expanded visual and somatosensory cortical representation. Overall, this study shows the influence of acoustic experience in cortical development, and suggests that the age of auditory deprivation may significantly affect auditory areal cartography. PMID:23413302

Wong, Carmen; Chabot, Nicole; Kok, Melanie A; Lomber, Stephen G

2014-07-01

168

Neurological and cytogenetic study in early-onset ataxia-telangiectasia patients.  

PubMed

The clinical diagnosis of ataxia-telangiectasia (AT) is difficult before the age of 4 years. We report clinical and cytogenetic data on three early-onset, early-diagnosed AT patients at the age of 12, 18 and 22 months, respectively. Postural instability of the trunk, characterized by motor impersistence, was the earliest neurological sign detected as early as 1 year of life. Dystonic movements and postures of arms and trunk and a subtle disorder of eye movement (blinking before gaze changing, increased latency and dysmetry of saccades) were observed during the 2nd year of life. All patients exhibited an unusual temper tantrum. We also observed an increased bleomycin-induced chromosomal instability in patient's cells in the early stages of the disease before all the clinical hallmarks were apparent. Our data suggest that detection of clinical indications, leading to early laboratory confirmation of AT, can reduce the age at diagnosis. PMID:7689057

Leuzzi, V; Elli, R; Antonelli, A; Chessa, L; Cardona, F; Marcucci, L; Petrinelli, P

1993-07-01

169

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

170

Preserved proper naming following left anterior temporal lobectomy is associated with early age of seizure onset  

PubMed Central

Summary Purpose Anterior temporal lobectomy (ATL) is an effective surgical option for managing pharmacoresistant temporal lobe epilepsy. Many patients with left ATL develop postsurgical difficulties with proper name retrieval, although curiously, some patients have entirely intact proper naming following left ATL. Here, we tested the hypothesis that early age of seizure onset would be a reliable factor “protecting” patients from developing proper naming defects following left ATL. Methods Proper naming of unique persons (Famous Faces Test, 155 items) and places (Landmark Test, 65 items) was measured in 23 patients who had undergone left ATL for pharmacoresistant epilepsy. Data were collected for a number of variables, including age of seizure onset, age at surgery, handedness, IQ, and seizure outcome. The patients were sorted into two groups based on proper naming performance: (1) Unimpaired: 7 patients performed normally on both the Faces and Landmark tests; (2) Impaired: 16 patients performed abnormally on one or both of the tests. Results In support of our hypothesis, the Unimpaired group had a significantly earlier age of seizure onset (M = 2.1 years) than the Impaired group (M = 15.1 years). Moreover, a correlation analysis indicated a strong association between age of seizure onset and naming outcome (R = ?0.569). The groups were comparable (and statistically indistinguishable) on nearly all other variables. Conclusions These findings document the importance of age of seizure onset in predicting proper naming outcome following left ATL (with earlier being better), and extend understanding of brain reorganization and plasticity.

Yucus, Chad J.; Tranel, Daniel

2008-01-01

171

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

172

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

173

Motion-onset VEPs reflect long maturation and early aging of visual motion-processing system.  

PubMed

Pattern-reversal and motion-onset visual evoked potentials (VEPs) were simultaneously tested in a group of 70 healthy subjects between the ages of 6-60 years to verify suspected differences in maturation and aging dynamics of the pattern and motion processing subsystems of the visual pathway. The motion-onset VEPs displayed dramatic configuration development and shortening of latencies up to 18 years of age (correl. coeff. -0.85; p < 0.001) and systematic prolongation from about 20 years of age (correl. coeff. 0.70; p < 0.001). This confirms long-lasting maturation of the magnocellular system and/or motion processing cortex and their early age related changes. Less significant changes of pattern-reversal VEPs in the tested age range can be interpreted as a sign of early maturation of the parvocellular system and its enhanced functional endurance in the elderly. PMID:16083936

Langrová, J; Kuba, M; Kremlácek, J; Kubová, Z; Vít, F

2006-02-01

174

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

175

Invasive Early-Onset Neonatal Group B Streptococcal Cases – Alaska, 2000–2004  

Microsoft Academic Search

Objective: We conducted a review of invasive early-onset neonatal group B Streptococcus (GBS) infections that occurred during 2000–2004\\u000a in Alaska to determine the proportion of cases that might have been prevented by complete implementation of the 2002 Centers\\u000a for Disease Control and Prevention (CDC) guidelines. Methods: Cases were identified from statewide laboratory-based surveillance conducted by the CDC Arctic Investigations Program,

Louisa Castrodale; Bradford Gessner; Laura Hammitt; Marc-Andre Chimonas; Thomas Hennessy

2007-01-01

176

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

177

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

178

Severe early onset preeclampsia secondary to bilateral ureteral obstruction reversed by stenting  

Microsoft Academic Search

Background: Severe early onset preeclampsia might be reversed by correction of an underlying pathophysiologic condition.Case: A 22-year-old nullipara with a history of antivesicoureteral reflux surgery in childhood presented at 23 weeks’ gestation with severe headaches, hypertension, proteinuria, edema, and acute renal failure. Severe preeclampsia was diagnosed, and bilateral distal ureteral obstruction was documented by cystoscopy, fluoroscopy, and retrograde pyelography. Bilateral

James A Thorp; Bradley E Davis; Christopher Klingele

1999-01-01

179

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

180

Risk Factors of Early and Late Onset Preeclampsia among Thai Women  

PubMed Central

Background Little research has been conducted to specifically identify risk factors of early and late onset preeclampsia among Thai women. Objective To examine risk factors of early and late onset of preeclampsia among Thai women. Methods A case-control study of 150 preeclampsia cases with an equal number of normotensive controls was conducted among women who delivered live born singleton infants at King Chulalongkorn Memorial Hospital, Rajavithi Hospital, and Police General Hospital in Bangkok, Thailand from July 2006 to November 2007. Multivariable logistic regression analysis procedures were used to calculate odds ratios (OR) and 95% confidence intervals (CI) of potential risk factors associated with preeclampsia. Results Pre-pregnancy body mass index >30 kg/m2 (OR=5.25, 95%CI: 1.80, 15.32) and failure to use prenatal care services (OR=6.37, 95%CI: 1.26, 32.27) were associated with increased risk of preeclampsia. OR’s of similar magnitude were observed when risk factors of early and late onset preeclampsia were assessed separately. Conclusion Advanced maternal age, obesity, and no utilization of prenatal care were covariates identified as risk factors for preeclampsia.

Fang, Rozanna; Dawson, Antoinette; Lohsoonthorn, Vitool; Williams, Michelle A.

2010-01-01

181

A novel homozygous mutation at the GAA gene in Mexicans with early-onset Pompe disease.  

PubMed

Glycogen-storage disease type II, also named Pompe disease, is caused by the deficiency of the enzyme acid alpha-glucosidase, which originates lysosomal glycogen accumulation leading to progressive neuromuscular damage. Early-onset Pompe disease shows a debilitating and frequently fulminating course. To date, more than 300 mutations have been described; the majority of them are unique to each affected individual. Most early-onset phenotypes are associated with frameshift mutations leading to a truncated alpha-glucosidase protein with loss of function. Founder effects are responsible from many cases from few highprevalence world regions. Herein we described two apparently unrelated cases affected with classical early-onset Pompe disease, both pertaining to a small region from Central Mexico (the State of San Luis Potosí), the same novel homozygous frameshift mutation at gene GAA (c.1987delC) was demonstrated in both cases. This GAA gene deletion implies a change of glutamine to serine at codon 663, and a new reading frame that ends after 33 base pairs, which leads to the translation of a truncated protein. This report contributes to widen the knowledge on the effect of pathogenic mutations in Pompe disease. Here we postulate the existence of a founder effect. PMID:24399866

Esmer, Carmen; Becerra-Becerra, Rosario; Peña-Zepeda, Claudia; Bravo-Oro, Antonio

2013-10-01

182

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

2007-01-01

183

PAPPA2 is increased in severe early onset pre-eclampsia and upregulated with hypoxia.  

PubMed

Severe early onset pre-eclampsia is a serious pregnancy complication, believed to arise as a result of persistent placental hypoxia due to impaired placentation. Pregnancy-associated plasma protein A2 (PAPPA2) is very highly expressed in the placenta relative to all other tissues. There is some evidence that PAPPA2 mRNA and protein are increased in association with pre-eclampsia. The aim of the present study was to characterise the mRNA and protein expression, as well as localisation, of PAPPA2 in an independent cohort of severe early onset pre-eclamptic placentas. We also examined whether exposing placental explants to hypoxia (1% oxygen) changed the expression of PAPPA2. Expression of PAPPA2 mRNA and protein was upregulated in severe early onset pre-eclamptic placentas compared with preterm controls and localised to the syncytiotrophoblast. Interestingly, protein localisation was markedly reduced in term placenta. Syncytialisation of BeWo cells did not change PAPPA2 expression. However, hypoxia upregulated PAPPA2 mRNA and protein expression in primary placental explants. Together, our data suggest that PAPPA2 may be upregulated in severe pre-eclampsia and, functionally, this may be mediated via increased placental hypoxia known to occur with this pregnancy disorder. PMID:23484525

Macintire, Kate; Tuohey, Laura; Ye, Louie; Palmer, Kirsten; Gantier, Michael; Tong, Stephen; Kaitu'u-Lino, Tu'uhevaha J

2014-01-01

184

Iowa Gambling Task in patients with early-onset Parkinson's disease: strategy analysis.  

PubMed

The aim of our study was to analyse decision making in early-onset Parkinson's disease (PD) patients performing the Iowa Gambling Task (IGT). We compared 19 patients with early-onset PD (? 45 years) on dopaminergic medication (no evidence of depression, dementia, executive dysfunction according to the Tower of London test and the Stroop test, or pathological gambling) with 20 age-matched controls. A computer version of the IGT was employed. The PD patients achieved slightly lower IGT scores than the control group. A detailed analysis based on 'shift frequencies' between the individual decks showed that the patients tended to change their preferences for the decks more frequently, with a higher preference for the 'disadvantageous' deck B. Control subjects seemed to develop a more effective strategy. These differences could be caused by the poorer ability of the patients to develop any strategy at all. We observed changes in decision making during IGT performance in patients with early-onset PD, although they had no executive dysfunction as measured by established neuropsychological tests. The more detailed analysis employed in the present study could lead to a more accurate study of IGT performance and application of IGT in clinical practice. PMID:22526761

Gescheidt, Tomáš; Czekóová, Kristína; Urbánek, Tomáš; Mare?ek, Radek; Mikl, Michal; Kubíková, Radka; Telecká, Sabina; Andrlová, Hana; Husárová, Ivica; Bareš, Martin

2012-12-01

185

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

PubMed Central

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 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.

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

2007-01-01

186

Deep brain stimulation as a mode of treatment of early onset pantothenate kinase-associated neurodegeneration.  

PubMed

We report a case of a young girl with early onset pantothenate kinase-kssociated neurodegeneration (PKAN) whose initial clinical manifestation was ataxia at the age of 2.5 years. Subsequently the patient presented to us with refractory severe dystonia resulting in essentially complete loss of motor control. She had a mutation in PANK2 gene consisting of an aminoacid change of Alanine to Valine in exon 5 (A382V). After Globus Pallidus deep brain stimulation (DBS) at the age of 11 years, the patient regained useful motor function and speech with a marked decrease in the severity of the dystonia. The patient's condition gradually returned to her pre-DBS status when the device had to be removed 3 months later due to infection. Our case is the sixth case with classical PKAN that was treated by Globus Pallidus stimulation, the fifth one to have a favorable response to it and the only one in whom response was proven by the inadvertent removal of the DBS device due to infection. In addition, our case had a novel mutation and novel clinical features (onset with ataxia, occurrence of early seizure activity) on top of her other symptoms that were otherwise typical of early onset disease. PMID:18462962

Mikati, Mohamad A; Yehya, Amin; Darwish, Houssein; Karam, Pascale; Comair, Youssef

2009-01-01

187

Early impact basins and the onset of plate tectonics. Ph.D. Thesis - Maryland Univ.  

NASA Technical Reports Server (NTRS)

The fundamental crustal dichotomy of the Earth (high and low density crust) was established nearly 4 billion years ago. Therefore, subductable crust was concentrated at the surface of the Earth very early in its history, making possible an early onset for plate tectonics. Simple thermal history calculations spanning 1 billion years show that the basin forming impact thins the lithosphere by at least 25%, and increases the sublithosphere thermal gradients by roughly 20%. The corresponding increase in convective heat transport, combined with the highly fractured nature of the thinned basin lithosphere, suggest that lithospheric breakup or rifting occurred shortly after the formation of the basins. Conditions appropriate for early rifting persisted from some 100,000,000 years following impact. We suggest a very early stage of high temperature, fast spreading "microplate" tectonics, originating before 3.5 billion years ago, and gradually stabilizing over the Archaean into more modern large plate or Wilson Cycle tectonics.

Frey, H.

1977-01-01

188

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

189

Long term functioning in early onset psychosis: Two years prospective follow-up study  

PubMed Central

Background There were few studies on the outcome of schizophrenia in developing countries. Whether the outcome is similar to or different from developed world is still a point for research. The main aim of the current study was to know if patients with early onset non affective psychosis can behave and function properly after few years from start of the illness or not. Other aims included investigation of possible predictors and associated factors with remission and outcome. Method The study prospectively investigated a group of 56 patients with onset of psychosis during childhood or adolescence. Diagnosis made according to DSM-IV criteria and included; schizophrenia, psychotic disorder not otherwise specified and acute psychosis. Severity of psychosis was measured by PANSS. Measures of the outcome included; remission criteria of Andreasen et al 2005, the children's global assessment scale and educational level. Results Analysis of data was done for only 37 patients. Thirty patients diagnosed as schizophrenia and 7 with Psychotic disorder not otherwise specified. Mean duration of follow up was 38.4 +/- 16.9 months. At the end of the study, 6 patients (16.2%) had one episode, 23(62.1%) had multiple episodes and 8 (21.6%) continuous course. Nineteen patients (51.4%) achieved full remission, and only 11(29.7%) achieved their average educational level for their age. Twenty seven percent of the sample had good outcome and 24.3% had poor outcome. Factors associated with non remission and poor outcome included gradual onset, low IQ, poor premorbid adjustment, negative symptoms at onset of the illness and poor adherence to drugs. Moreover, there was tendency of negative symptoms at illness start to predict poor outcome. Conclusion Some patients with early onset non affective psychosis can behave and function properly after few years from the start of the illness. Although remission is a difficult target in childhood psychosis, it is still achievable.

2011-01-01

190

Predictors of Onset of Facial Pain and Temporomandibular Disorders in Early Adolescence  

PubMed Central

There are few prospective studies assessing risk factors for onset of temporomandibular (TMD) pain disorders in any age group. The aim of this prospective cohort study was to identify risk factors for onset of clinically significant TMD pain (i.e., pain meeting research diagnostic criteria for myofascial pain and/or arthralgia) during early adolescence. Subjects were 1,996 boys and girls, initially 11 years old, randomly selected from a large nonprofit health care system. Subjects completed a baseline telephone interview and were followed up with mailed questionnaires every 3 months for 3 years. At baseline and all follow ups, subjects were asked to report the presence of facial pain in the past 3 months. Subjects reporting a first onset of facial pain received a standardized clinical examination. In multivariate analyses, baseline predictors of clinically significant pain included female gender [Odds Ratio (OR) = 2.0, 95% Confidence Interval (CI) = 1.2–3.3] and negative somatic and psychological symptoms including somatization (OR = 1.8, CI = 1.1–2.8), number of other pain complaints (OR = 3.2, CI = 1.7–6.1) and life dissatisfaction (OR = 4.1, CI = 1.9–9.0). Many of the risk factors for onset of clinically significant TMD pain in adolescents are similar to risk factors for onset of TMD and other pain problems in adults, as well as risk factors for onset of other pain conditions in adolescents. These findings suggest that the development of TMD pain in adolescence may reflect an underlying vulnerability to musculoskeletal pain that is not unique to the orofacial region.

LeResche, Linda; Mancl, Lloyd A.; Drangsholt, Mark T.; Huang, Greg; Von Korff, Michael

2007-01-01

191

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

192

The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy.  

PubMed

The clinical understanding of the CDKL5 disorder remains limited, with most information being derived from small patient groups seen at individual centres. This study uses a large international data collection to describe the clinical profile of the CDKL5 disorder and compare with Rett syndrome (RTT). Information on individuals with cyclin-dependent kinase-like 5 (CDKL5) mutations (n=86) and females with MECP2 mutations (n=920) was sourced from the InterRett database. Available photographs of CDKL5 patients were examined for dysmorphic features. The proportion of CDKL5 patients meeting the recent Neul criteria for atypical RTT was determined. Logistic regression and time-to-event analyses were used to compare the occurrence of Rett-like features in those with MECP2 and CDKL5 mutations. Most individuals with CDKL5 mutations had severe developmental delay from birth, seizure onset before the age of 3 months and similar non-dysmorphic features. Less than one-quarter met the criteria for early-onset seizure variant RTT. Seizures and sleep disturbances were more common than in those with MECP2 mutations whereas features of regression and spinal curvature were less common. The CDKL5 disorder presents with a distinct clinical profile and a subtle facial, limb and hand phenotype that may assist in differentiation from other early-onset encephalopathies. Although mutations in the CDKL5 gene have been described in association with the early-onset variant of RTT, in our study the majority did not meet these criteria. Therefore, the CDKL5 disorder should be considered separate to RTT, rather than another variant. PMID:22872100

Fehr, Stephanie; Wilson, Meredith; Downs, Jenny; Williams, Simon; Murgia, Alessandra; Sartori, Stefano; Vecchi, Marilena; Ho, Gladys; Polli, Roberta; Psoni, Stavroula; Bao, Xinhua; de Klerk, Nick; Leonard, Helen; Christodoulou, John

2013-03-01

193

[Role of human viruses in the pathogenesis of periodontal disease].  

PubMed

Human viruses play a fundamental role in the pathogenesis of periodontal disease due to their intrinsec capacity to interfere with immune system of the host. Herpesvirus maybe involved in the onset or progress of a number of periodontal diseases while HIV seems to be related to the linear gingival erythema (LGE) and necrotizing ulcerative periodontitis (NUP). PMID:12874540

Grassi, F R; Pappalardo, S; Frateiacci, A; Scortichini, A; Petruzzi, M

2003-05-01

194

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

PubMed Central

Background Genetic and environmental risk factors and gene-environment interactions are linked to higher likelihood of developing schizophrenia in accordance with the neurodevelopmental model of disease; little is known about risk factors and early development in early-onset schizophrenia (EOS) and very early-onset schizophrenia (VEOS). Methods We present a case-control study of a sample of 21 patients with EOS/VEOS and a control group of 21 patients with migraine, recruited from the Child Neuropsychiatry Unit, Department of Neurologic and Psychiatric Science, University of Bari, Italy. The aim was to assess the statistical association between VEOS/EOS and family history for psychiatric disorders, obstetric complications and childhood developmental abnormalities using 2 × 2 tables and a Chi Squared or Fisher test. Results The results show a statistical association between EOS/VEOS and schizophrenia and related disorders (P = 0.02) and personality disorders (P = 0.003) in relatives, and between EOS/VEOS and developmental abnormalities of early relational skills (P = 0.008) and learning (P = 0.04); there is not a statistically relevant difference between cases and controls (P > 0.05) for any obstetric complications (pre, peri and postpartum). Conclusions This study confirms the significant role of familial liability but not of obstetric complications in the pathogenesis of VEOS/EOS; the association between childhood developmental abnormalities and EOS/VEOS supports the neurodevelopmental model of disease.

2011-01-01

195

Effectiveness and safety of antipsychotics in early onset psychoses: a long-term comparison.  

PubMed

The effectiveness and safety of various antipsychotics was evaluated in a long-term study on 47 patients, 29 with schizophrenia and 18 with schizoaffective disorder, aged 10 to 17 years (mean 15.5) at onset. Follow-up ranged from 3 years (all 47 patients) to 11 years (19 patients). Data were collected on the following antipsychotics: haloperidol, risperidone, olanzapine, quetiapine, aripiprazole and clozapine. Cases with positive response were significantly more frequent with clozapine as compared to haloperidol, risperidone and olanzapine. Risperidone was significantly better than haloperidol at the 3-year follow-up. A comparison of the degree of clinical improvement evaluated with PANSS and CGI in patients treated with drugs in subsequent periods showed clozapine led to significantly greater improvement as compared to haloperidol, risperidone and olanzapine, and risperidone as compared to haloperidol. Data on long-term functioning significantly favored clozapine as compared to all the other drugs. Discontinuation due to side effects involved 20% patients with clozapine, lower percentage with the other drugs. The results of this study on early-onset schizophrenic and schizoaffective disorders confirm that even in the long-term, clozapine is more effective than haloperidol, risperidone and olanzapine. Despite a relevant incidence of adverse effects, clozapine seems to have unique effectiveness in treating children and adolescents with early-onset schizophrenic disorders. PMID:21570128

Cianchetti, Carlo; Ledda, Maria Giuseppina

2011-10-30

196

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

PubMed

Calcium pyrophosphate-deposition disease (CPDD), also called "chondrocalcinosis" or "pseudogout," 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 2d 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. PMID:7887424

Baldwin, C T; Farrer, L A; Adair, R; Dharmavaram, R; Jimenez, S; Anderson, L

1995-03-01

197

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

PubMed Central

Calcium pyrophosphate-deposition disease (CPDD), also called "chondrocalcinosis" or "pseudogout," 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 2d 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.

Baldwin, C T; Farrer, L A; Adair, R; Dharmavaram, R; Jimenez, S; Anderson, L

1995-01-01

198

Epilepsy with myoclonic absences with early onset: a follow-up study.  

PubMed

We studied six children (four girls and two boys) suffering from cryptogenic myoclonic absence seizures with early onset. The age at onset of the seizures ranged between 6 and 27.8 months (mean age +/- SD: 18.5+/-12.4 months). The neurologic evaluation was normal in all patients at the first hospital admission. After the diagnosis, we followed up all children for at least 5 years. At the end of follow-up, two of these patients (a girl and a boy) showed severe mental retardation, a high number (from one to three per day) of seizures, and persistent pathologic electroencephalograms. The other patients showed normal electroencephalograms: all of them were seizure free and without mental retardation. The two patients with mental retardation have been treated with polytherapy. In all other children we used valproate alone successfully. Our data suggest that myoclonic absence seizures with early onset can have a good long-term prognosis. Valproate is a useful anticonvulsant drug in these patients. Mental retardation is present only in patients with poor seizure control. PMID:10593554

Verrotti, A; Greco, R; Chiarelli, F; Domizio, S; Sabatino, G; Morgese, G

1999-11-01

199

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

200

The TRIB3 Q84R Polymorphism and Risk of Early-Onset Type 2 Diabetes  

PubMed Central

Context: The prevalence of type 2 diabetes (T2D), particularly among young adults, has been rising steadily during the past 2 decades. T2D, especially in its early-onset subtype, is under genetic control. TRIB3 inhibits insulin-stimulated Akt phosphorylation and subsequent insulin action. A TRIB3 gain-of-function polymorphism, Q84R (rs2295490), impairs insulin signaling. Objective: The objective of the study was to verify the association of TRIB3 Q84R with: 1) T2D, either subtyped or not according to age at diagnosis (early-onset, <45 yr, or ? 45 yr); 2) insulin secretion and sensitivity in nondiabetic individuals; or 3) in vitro insulin secretion from isolated human islets. Design: Four different case-control samples comprising a total of 5469 whites were examined. Insulinogenic and insulin sensitivity indexes and their interplay (disposition index) were assessed in 645 nondiabetic individuals at oral glucose tolerance test, glucose (16.7 mmol/liter)-induced in vitro insulin secretion was assessed in islets isolated from 54 nondiabetic donors. Results: In the whole sample, the R84 variant was nominally associated with T2D (odds ratio 1.17, 95% confidence interval 1.00–1.36, P = 0.04). When stratifying according to age of diabetes onset, R84 carriers had an increased risk of early-onset T2D (odds ratio 1.32, 95% confidence interval 1.10–1.58, P = 0.002). Among 645 nondiabetic subjects, R84 carriers had higher glucose levels (P = 0.005) and lower insulinogenic (P = 0.03) and disposition index (P = 0.02) during the oral glucose tolerance test. R84 islets were more likely to display relatively low glucose-stimulated insulin release (P = 0.04). Conclusions: The TRIB3 R84 variant is associated with early-onset T2D in whites. Alteration in the insulin secretion/insulin sensitivity interplay appears to underlie this association.

Prudente, Sabrina; Scarpelli, Daniela; Chandalia, Manisha; Zhang, Yuan-Yuan; Morini, Eleonora; Del Guerra, Silvia; Perticone, Francesco; Li, Rong; Powers, Christine; Andreozzi, Francesco; Marchetti, Piero; Dallapiccola, Bruno; Abate, Nicola; Doria, Alessandro; Sesti, Giorgio; Trischitta, Vincenzo

2009-01-01

201

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

202

Risk factors for early onset neonatal group B streptococcal sepsis: case-control study  

PubMed Central

Objectives To quantify risk factors for and the prevalence of early onset group B streptococcal sepsis in neonates in a geographically defined population. Design Cases were collected prospectively for two years from April 1998 and compared with four controls each, matched for time and place of delivery. Setting The former Northern health region of the United Kingdom. Participants Infants infected with group B streptococcus in the first week of life. Results The prevalence of early onset group B streptococcal sepsis was 0.57 per 1000 live births. Premature infants comprised 38% of all cases and 83% of the deaths. Prematurity (odds ratio 10.4, 95% confidence interval 3.9 to 27.6), rupture of the membranes more than 18 hours before delivery (25.8, 10.2 to 64.8), rupture of the membranes before the onset of labour (11.1, 4.8 to 25.9), and intrapartum fever (10.0, 2.4 to 40.8) were significant risk factors for infection. Had the interim recommendations on best practice issued by the Group B Streptococcus Working Group of the Public Health Laboratory Service been uniformly applied to the fetuses alive at the onset of labour, 29 of 37 (78%) might have been given antibiotic prophylaxis during labour. At least 23 of these 29 (79%) could have had antibiotics for four hours or more before delivery. To achieve this, 16% of all women would have been given antibiotics during labour. Conclusions Early onset group B streptococcal sepsis remains an important problem in the United Kingdom. Prevention based on risk factors might reduce the prevalence at the cost of treating many women with risk factors. Using rupture of the membranes before the onset of labour as a risk factor might be expected to improve the success of guidelines for prophylaxis. What is already known on this topicGroup B streptococcal infection is the leading cause of neonatal sepsis in the United Kingdom and an important, yet potentially preventable, cause of deathThe prevalence of early onset group B streptococcal sepsis in the United Kingdom is not well definedData from the United States and Australia show that the prevalence may be reduced drastically by using selective antibiotic prophylaxis during labourWhat this study addsOdds ratios for established risk factors, calculated for a British population, might aid the development of prophylactic guidelinesRupture of the membranes before the onset of labour should be considered as an important risk factor and might identify potential cases at an earlier stageCurrent prophylactic guidelines might prevent or ameliorate three quarters of all cases of infection at the cost of giving antibiotics to 16% of all women in labour

Oddie, Sam; Embleton, Nicholas D

2002-01-01

203

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

204

Preventative strategies for early-onset bipolar disorder: towards a clinical staging model.  

PubMed

Bipolar disorder is a chronic and typically recurring illness with significant psychosocial morbidity. Although the aetiological factors that contribute to the onset of mania, and by definition bipolar I disorder, are poorly understood, it most commonly occurs during the adolescent period. Putative risk factors for developing bipolar disorder include having a first-degree relative with a mood disorder, physical/sexual abuse and other psychosocial stressors, substance use disorders, psychostimulant and antidepressant medication exposure and omega-3 fatty acid deficiency. Prominent prodromal clinical features include episodic symptoms of depression, anxiety, hypomania, anger/irritability and disturbances in sleep and attention. Because prodromal mood symptoms precede the onset of mania by an average of 10 years, and there is low specificity of risk factors and prodromal features for mania, interventions initiated prior to onset of the disorder (primary prevention) or early in the course of the disorder (early or secondary prevention) must be safe and well tolerated upon long-term exposure. Indeed, antidepressant and psychostimulant medications may precipitate the onset of mania. Although mood stabilizers and atypical antipsychotic medications exhibit efficacy in youth with bipolar I disorder, their efficacy for the treatment of prodromal mood symptoms is largely unknown. Moreover, mood stabilizers and atypical antipsychotics are associated with prohibitive treatment-emergent adverse effects. In contrast, omega-3 fatty acids have neurotrophic and neuroprotective properties and have been found to be efficacious, safe and well tolerated in the treatment of manic and depressive symptoms in children and adolescents. Together, extant evidence endorses a clinical staging model in which subjects at elevated risk for developing mania are treated with safer interventions (i.e. omega-3 fatty acids, family-focused therapy) in the prodromal phase, followed by pharmacological agents with potential adverse effects for nonresponsive cases and secondary prevention. This approach warrants evaluation in prospective longitudinal trials in youth determined to be at ultra-high risk for bipolar I disorder. PMID:21090835

McNamara, Robert K; Nandagopal, Jayasree J; Strakowski, Stephen M; DelBello, Melissa P

2010-12-01

205

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

2013-04-15

206

Immobilized chicks as a model system for early-onset developmental dysplasia of the hip.  

PubMed

We have almost no understanding of how our joints take on their range of distinctive shapes, despite the clinical relevance of joint morphogenesis to postnatal skeletal malformations such as developmental dysplasia of the hip (DDH). In this study, we investigate the role of spontaneous prenatal movements in joint morphogenesis using pharmacological immobilization of developing chicks, and assess the system as a suitable model for early-onset hip dysplasia. We show that, prior to joint cavitation, the lack of dynamic muscle contractions has little impact on the shape of the hip joint. However, after the timepoint at which cavitation occurs, a dramatic effect on hip joint morphogenesis was observed. Effects in the immobilized chicks included flattening of the proximal femur, abnormal orientation of the pelvis relative to the femur and abnormal placement and coverage of the acetabulum. Although many clinical case studies have identified reduced or restricted movement as a risk factor for DDH, this study provides the first experimental evidence of the role of prenatal movements in early hip joint development. We propose that the immobilized chick embryo serves as a suitable model system for the type of early-onset DDH which arises due to neuromuscular conditions such as spinal muscular atrophy. PMID:24590854

Nowlan, Niamh C; Chandaria, Vikesh; Sharpe, James

2014-06-01

207

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

208

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

2013-03-15

209

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

210

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

211

A systematic review of the long-term outcome of early onset schizophrenia  

PubMed Central

Background The current review analyzes the long-term outcome and prognosis of early onset schizophrenia based on previously published studies in 1980. Methods A systematic search of articles published in the English-language literature after 1980 identified a total of 21 studies, which included 716 patients who were either suffering from early onset schizophrenia (EOS) or both EOS and other psychotic disorders (MIX). The authors of the current review scored the outcome as either “good,” “moderate,” or “poor.” The mean age of onset in these studies was <18 years. Results In general, the outcome in studies with EOS is worse than the outcome in MIX studies. Only 15.4% of the patients in EOS studies versus 19.6% of the patients in MIX studies experienced a “good” outcome. In contrast, 24.5% of the patients in EOS studies versus 33.6% in MIX studies experienced a “moderate” outcome, and 60.1% in EOS studies versus 46.8% in MIX studies experienced a “poor” outcome. The authors identified various significant effects on outcome. In EOS, the findings were significantly affected by sample attrition, indicating that in studies with a high dropout rate, fewer patients experienced a “moderate” outcome, and more patients experienced a “poor” outcome; however, the effect sizes were small. Furthermore, the effects were also small and more favourable for specific functioning measures, as opposed to more global measures, small to moderate in terms of worse outcomes for follow-up periods >10 years, small to moderate for more unfavourable outcomes in males, and small to large for worse outcomes in studies including patients diagnosed before 1970. Conclusions In contrast to the adult manifestation, the early manifestation of schizophrenia in childhood and adolescence still carries a particularly poor prognosis. According to these aggregated data analyses, longer follow-up periods, male sex, and patients having been diagnosed before 1970 contribute predominantly to the rather poor course of EOS.

2012-01-01

212

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

213

Effect of a screening–based prevention policy on prevalence of early-onset group B streptococcal sepsis  

Microsoft Academic Search

Objective: To assess the effectiveness and feasibility of implementing the Centers for Disease Control and Prevention (CDC) screening–based guidelines for preventing early-onset group B streptococcal sepsis.Methods: We compared prevalence of early-onset group B streptococcal sepsis after institution of the CDC screening–based protocol (October 1, 1995 through August 31, 1999) with that of historical controls (January 1, 1992 through June 30,

Beverly S Brozanski; Judith G Jones; Marijane A Krohn; Richard L Sweet

2000-01-01

214

The impact of early-diagnosed new-onset post-transplantation diabetes mellitus on survival and major cardiac events  

Microsoft Academic Search

The impact of early-diagnosed new-onset post-transplantation diabetes mellitus (PTDM) on cardiovascular (CV) disease is not well described. The objectives of the present prospective single-center observational study were to assess the long-term effects of early-diagnosed new-onset PTDM on major cardiac events (MCE; cardiac death or nonfatal acute myocardial infarction) and patient survival. Diabetic status and CV risk factors were assessed in

J Hjelmesæth; A Hartmann; T Leivestad; H Holdaas; S Sagedal; M Olstad; T Jenssen

2006-01-01

215

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

Microsoft Academic Search

Objective  To examine the diagnostic stability and the functional outcome of patients with early-onset psychosis (EOP) over a 2-year\\u000a follow-up period.\\u000a \\u000a \\u000a \\u000a Methods  A total of 24 patients (18 males (75%) and 6 females (25%), mean age ± SD: 15.7 ± 1.6 years) with a first episode of EOP formed\\u000a the sample. Psychotic symptoms were assessed using the Positive and Negative Syndrome Scale (PANSS). Social disability was\\u000a measured

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

2008-01-01

216

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

217

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

218

Microbleeds in Late-Life Depression: Comparison of Early- and Late-Onset Depression  

PubMed Central

Late-life depression could be classified roughly as early-onset depression (EOD) and late-onset depression (LOD). LOD was proved to be associated with cerebral lesions including white matter hyperintensities (WMH) and silent brain infarctions (SBI), differently from EOD. However, it is unclear whether similar association is present between LOD and microbleeds which are also silent lesions. In this study, 195 patients of late-life depression were evaluated and divided into EOD, presenile-onset depression (POD), and LOD groups; 85 healthy elderly controls were enrolled as controls. Subjects were scanned by MRI including susceptibility weighted images to evaluate white matter hyperintensities (WMH), silent brain infarctions (SBI), and microbleeds. The severity of depression was evaluated with 15-item Geriatric Depression Scale. Psychosocial factors were investigated with Scale of Life Events and Lubben Social Network Scale. Logistic regression and linear regression were performed to identify the independent risk factors for depression. Results showed that LOD patients had higher prevalence of microbleeds than EOD, POD, and control patients. The prevalence of lobar microbleeds and microbleeds in the left hemisphere was the independent risk factor for the occurrence of LOD; a high number of microbleeds were associated with severe state of LOD, whereas life events and lack of social support were more important for EOD and POD. All these results indicated that Microbleeds especially lobar microbleeds and microbleeds in the left hemisphere were associated with LOD but not with EOD.

Fang, Min; Xu, Yu; Hua, Ting; Liu, Xue-Yuan

2014-01-01

219

Microbleeds in late-life depression: comparison of early- and late-onset depression.  

PubMed

Late-life depression could be classified roughly as early-onset depression (EOD) and late-onset depression (LOD). LOD was proved to be associated with cerebral lesions including white matter hyperintensities (WMH) and silent brain infarctions (SBI), differently from EOD. However, it is unclear whether similar association is present between LOD and microbleeds which are also silent lesions. In this study, 195 patients of late-life depression were evaluated and divided into EOD, presenile-onset depression (POD), and LOD groups; 85 healthy elderly controls were enrolled as controls. Subjects were scanned by MRI including susceptibility weighted images to evaluate white matter hyperintensities (WMH), silent brain infarctions (SBI), and microbleeds. The severity of depression was evaluated with 15-item Geriatric Depression Scale. Psychosocial factors were investigated with Scale of Life Events and Lubben Social Network Scale. Logistic regression and linear regression were performed to identify the independent risk factors for depression. Results showed that LOD patients had higher prevalence of microbleeds than EOD, POD, and control patients. The prevalence of lobar microbleeds and microbleeds in the left hemisphere was the independent risk factor for the occurrence of LOD; a high number of microbleeds were associated with severe state of LOD, whereas life events and lack of social support were more important for EOD and POD. All these results indicated that Microbleeds especially lobar microbleeds and microbleeds in the left hemisphere were associated with LOD but not with EOD. PMID:24719883

Feng, Chao; Fang, Min; Xu, Yu; Hua, Ting; Liu, Xue-Yuan

2014-01-01

220

Neonatal purpura fulminans manifestation in early-onset group B Streptococcal infection  

PubMed Central

Patient: Male, 0 Final Diagnosis: Purpura fulminans Symptoms: Fever • letargy Medication: — Clinical Procedure: — Specialty: Pediatrics and Neonatology Objective: Rare disease Background: Neonatal purpura fulminans (PF) is a rare but frequently fatal disorder associated with high morbidity and mortality. It may be congenital, as a result of protein C and S deficiency, or acquired due to severe infection. Gram-negative organisms and Staphylococcus species are the most common causes of the acute infectious type, and a few cases of causative neonatal group B Streptococcus (GBS) disease have been reported worldwide. Case Report: We present a full-term male neonate with purpura fulminans secondary to early-onset group B streptococcal (GBS) infection. The mother brought the infant to the emergency department at the age of 43 hours of life, with fever (39.5°C) and lethargy. Neonatal sepsis was suspected, and he was immediately started on intravenous ampicillin and gentamicin. The initial workup revealed disseminated intravascular coagulopathy, and both blood and CSF cultures grew GBS. He had normal levels of protein C and protein S for his age. The infant died 48 hours after admission due to multiorgan system failure despite aggressive neonatal intensive care support. Conclusions: Neonatal PF secondary to early-onset GBS infection is a fatal condition that should not be missed. Screening pregnant women for GBS colonization and use of protocols for preventing perinatal GBS infection is considered the most important preventive measure of this fatal condition, especially among Saudi women, who have a relatively high rate of GBS infection.

AlBarrak, May; Al-Matary, Abdulrahman

2013-01-01

221

Quality of life and autonomy in emerging adults with early-onset neuromuscular disorders.  

PubMed

Emerging adulthood is an important period in the development of one's identity and autonomy. The ways in which identity and autonomy are viewed by emerging adults and how they impact quality of life (QoL) in individuals with early-onset neuromuscular conditions is not yet known. This study focused on understanding and exploring relationships between self-perceptions of emerging adulthood, autonomy, and QoL. Five previously validated measures were incorporated into an online survey and distributed to young adults with early-onset neuromuscular conditions and unaffected controls. Topics explored included individuals' views regarding their overall QoL, disease-specific QoL, components of emerging adulthood, and autonomy. We found that a sense of higher disease impact was associated with a lower Overall General QoL. Additionally, perceptions of key autonomy factors "negativity" and "instability" were uniquely associated with Overall General QoL in the case group as compared to controls, whereas "attitudinal autonomy" (attaining the ability to plan and follow through with goals) was important to this age group regardless of health status. The specific factors of emerging adulthood and autonomy that were significantly correlated with Overall General QoL can be used for developing targeted counseling and interventions to improve QoL for individuals and their families. PMID:22367485

Huismann, Darcy J; Sheldon, Jane P; Yashar, Beverly M; Amburgey, Kimberly; Dowling, James J; Petty, Elizabeth M

2012-10-01

222

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

223

Structured Regions of Alpha-synuclein Fibrils Include the Early Onset Parkinson's Disease Mutation Sites  

SciTech Connect

Alpha-Synuclein (AS) fibrils constitute the major proteinaceous component of Lewy bodies (LBs), the pathological hallmark of Parkinson’s disease (PD) and other neurodegenerative diseases. Three single point mutations in the AS gene, as well as multiplication of the wild-type (WT) AS allele, have been previously identified in families with early-onset PD. Although AS fibrils have been the subject of intense study, critical details about their structure including the precise location of the B-strands and the extent of the core, the three-dimensional structure and the effects of the mutations—remain unknown. Here, we have used magic-angle spinning solid-state NMR spectroscopy to present a detailed characterization of the full-length WT AS fibrils. With improved sample preparations, isotopic labeling patterns and NMR experiments, we have confidently assigned more than 90% of the 13C and 15N backbone and sidechain chemical shifts of the detected residues from residue 39 to 97, and quantified the conformational dynamics throughout this region. Our results demonstrate that the core of AS fibrils extends with a repeated motif and that residues 30, 46 and 53-the early-onset PD mutant sites-are located in structured regions of AS fibrils.

Comellas Canal, 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.

2011-08-26

224

Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism.  

PubMed

Autosomal recessive, early-onset Parkinsonism is clinically and genetically heterogeneous. Here, we report the identification, by homozygosity mapping and exome sequencing, of a SYNJ1 homozygous mutation (p.Arg258Gln) segregating with disease in an Italian consanguineous family with Parkinsonism, dystonia, and cognitive deterioration. Response to levodopa was poor, and limited by side effects. Neuroimaging revealed brain atrophy, nigrostriatal dopaminergic defects, and cerebral hypometabolism. SYNJ1 encodes synaptojanin 1, a phosphoinositide phosphatase protein with essential roles in the postendocytic recycling of synaptic vesicles. The mutation is absent in variation databases and in ethnically matched controls, is damaging according to all prediction programs, and replaces an amino acid that is extremely conserved in the synaptojanin 1 homologues and in SAC1-like domains of other proteins. Sequencing the SYNJ1 ORF in unrelated patients revealed another heterozygous mutation (p.Ser1422Arg), predicted as damaging, in a patient who also carries a heterozygous PINK1 truncating mutation. The SYNJ1 gene is a compelling candidate for Parkinsonism; mutations in the functionally linked protein auxilin cause a similar early-onset phenotype, and other findings implicate endosomal dysfunctions in the pathogenesis. Our data delineate a novel form of human Mendelian Parkinsonism, and provide further evidence for abnormal synaptic vesicle recycling as a central theme in the pathogenesis. PMID:23804577

Quadri, Marialuisa; Fang, Mingyan; Picillo, Marina; Olgiati, Simone; Breedveld, Guido J; Graafland, Josja; Wu, Bin; Xu, Fengping; Erro, Roberto; Amboni, Marianna; Pappatà, Sabina; Quarantelli, Mario; Annesi, Grazia; Quattrone, Aldo; Chien, Hsin F; Barbosa, Egberto R; Oostra, Ben A; Barone, Paolo; Wang, Jun; Bonifati, Vincenzo

2013-09-01

225

Germline mutations of inhibins in early-onset ovarian epithelial tumors.  

PubMed

To identify novel genetic bases of early-onset epithelial ovarian tumors, we used the trio exome sequencing strategy in a patient without familial history of cancer who presented metastatic serous ovarian adenocarcinomas at 21 years of age. We identified a single de novo mutation (c.1157A>G/p.Asn386Ser) within the INHBA gene encoding the ?A-subunit of inhibins/activins, which play a key role in ovarian development. In vitro, this mutation alters the ratio of secreted activins and inhibins. In a second patient with early-onset serous borderline papillary cystadenoma, we identified an unreported germline mutation (c.179G>T/p.Arg60Leu) of the INHA gene encoding the ?-subunit, the partner of the ?A-subunit. This mutation also alters the secreted activin/inhibin ratio, by disrupting both inhibin A and inhibin B biosynthesis. In a cohort of 62 cases, we detected an additional unreported germline mutation of the INHBA gene (c.839G>A/p.Gly280Glu). Our results strongly suggest that inhibin mutations contribute to the genetic determinism of epithelial ovarian tumors. PMID:24302632

Tournier, Isabelle; Marlin, Régine; Walton, Kelly; Charbonnier, Françoise; Coutant, Sophie; Théry, Jean-Christophe; Charbonnier, Camille; Spurrell, Cailyn; Vezain, Myriam; Ippolito, Lorena; Bougeard, Gaëlle; Roman, Horace; Tinat, Julie; Sabourin, Jean-Christophe; Stoppa-Lyonnet, Dominique; Caron, Olivier; Bressac-de Paillerets, Brigitte; Vaur, Dominique; King, Mary-Claire; Harrison, Craig; Frebourg, Thierry

2014-03-01

226

Benign Hereditary Chorea of Early Onset Maps to Chromosome 14q  

PubMed Central

Summary Benign hereditary chorea (BHC) is an autosomal dominant disorder characterized by an early-onset nonprogressive chorea. The early onset and the benign course distinguishes BHC from the more common Huntington disease (HD). Previous studies on families with BHC have shown that BHC and HD are not allelic. We studied a large Dutch kindred with BHC and obtained strong evidence for linkage between the disorder and markers on chromosome 14q (maximum LOD score 6.32 at recombination fraction 0). The BHC locus in this family was located between markers D14S49 and D14S1064, a region spanning ?20.6 cM that contains several interesting candidate genes involved in the development and/or maintenance of the CNS: glia maturation factor-?, GTP cyclohydrolase 1 and the survival of motor neurons (SMN)-interacting protein 1. The mapping of the BHC locus to 14q is a first step toward identification of the gene involved, which might, subsequently, shed light on the pathogenesis of this and other choreatic disorders.

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

2000-01-01

227

Early-onset facioscapulohumeral muscular dystrophy - significance of pelvic extensors in sagittal spinal imbalance.  

PubMed

Although facioscapulohumeral muscular dystrophy (FSHD) is the third most common inherited myopathy, cases of infantile or early-childhood onset have rarely been reported. The purpose of this study was to describe a case of early-onset FSHD with lumbar hyperlordosis, which shows the significance of the dynamic component of sagittal spinal imbalance. An 11-year-old girl presented with progressive gait disturbance and lumbar hyperlordosis. The motor power of her pelvic extensor muscles was grade 3. Pelvic tilt and hip flexion were markedly increased as determined by gait analysis. The most important factor in the development of hyperlordosis is the weakness of the pelvic extensor muscles, and the results of gait analysis exquisitely explain the pathophysiology. The patient stands with her spine hyperextended to maintain upright posture by a compensatory mechanism of relatively strong back extensor muscles. Corrective surgery for lumbar hyperlordosis was not considered because it could have eliminated the compensatory lumbar hyperextension, thus making the spine of the patient stoop forward through her hip joint during walking by the weakness of her pelvic extensor muscles. This FSHD case is an impressive example of a patient showing the concept that weak pelvic extensor muscles cannot keep the spine upright and balanced. PMID:19620895

Lee, Choon Sung; Kang, Suk Jung; Hwang, Chang Ju; Lee, Sung-Woo; Ahn, Young-Joon; Kim, Yung-Tae; Lee, Dong-Ho; Lee, Mi Young

2009-11-01

228

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

229

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

2011-02-01

230

A SNAP25 promoter variant is associated with early-onset bipolar disorder and a high expression level in brain  

PubMed Central

Bipolar disorder (BD) is one of the most common and persistent psychiatric disorders. Early-onset BD has been shown to be the most severe and familial form. We recently carried out a whole-genome linkage analysis on sib-pairs affected by early-onset BD and showed that the 20p12 region was more frequently shared in our families than expected by chance. The synaptosomal associated protein SNAP25 is a presynaptic plasma membrane protein essential for the triggering of vesicular fusion and neurotransmitter release, and for which abnormal protein levels have been reported in postmortem studies of bipolar patients. We hypothesised that variations in the gene encoding SNAP25, located on chromosome 20p12, might influence the susceptibility to early-onset BD. We screened SNAP25 for mutations and performed a case-control association study in 197 patients with early-onset BD, 202 patients with late-onset BD and 136 unaffected subjects. In addition, we analysed the expression level of the two SNAP25 isoforms in 60 brains. We showed that one variant, located in the promoter region, was associated with early-onset BD but not with the late-onset subgroup. In addition, individuals homozygous for this variant showed a significant higher SNAP25b expression level in prefrontal cortex. These results show that variations in SNAP25, associated with an increased gene expression level in prefrontal cortex, might predispose to early-onset BD. Further analyses of this gene, as well as analysis of genes encoding for the SNAP25 protein partners, are required to understand the impact of such molecular mechanisms in BD.

Etain, Bruno; Dumaine, Anne; Mathieu, Flavie; Chevalier, Fabien; Henry, Chantal; Kahn, Jean-Pierre; Deshommes, Jasmine; Bellivier, Frank; Leboyer, Marion; Jamain, Stephane

2010-01-01

231

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

PubMed Central

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 examined. Voxel-based morphometric analysis using the Brain Analysis Morphological Mapping (BAMM) software package was employed to explore alterations of the regional grey (GM) and white matter (WM) volumes in EOS patients. Symptoms were assessed using the Positive and Negative Syndrome Scale (PANSS). Results EOS patients had significantly reduced GM volume in the left parahippocampal, inferior frontal, and superior temporal gyri, compared with the controls. They also had less WM volume in the left posterior limb of the internal capsule and the left inferior longitudinal fasciculus. The positive symptom score of PANSS (higher values corresponding to more severe symptoms) was negatively related to GM volume in the bilateral posterior cingulate gyrus. The negative symptom score was positively correlated with GM volume in the right thalamus. As for the association with WM volume, the positive symptom score of PANSS was positively related to cerebellar WM (vermis region), and negatively correlated with WM in the brain stem (pons) and in the bilateral cerebellum (hemisphere region). Conclusion Our findings of regional volume alterations of GM and WM in EOS patients coincide with those of previous studies of adult onset schizophrenia patients. However, in brain regions that had no overall structural differences between EOS patients and controls (that is, the bilateral posterior cingulate gyrus, the right thalamus, the cerebellum, and the pons), within-subject analysis of EOS patients alone revealed that there were significant associations of the volume in these areas and the symptom severity. These findings suggest that at an early stage of the illness, especially for those with onset before brain maturation, a wide range of disturbed neural circuits, including these brain regions that show no apparent morphological changes, may contribute to the formation of the symptomatology.

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

2008-01-01

232

CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients  

PubMed Central

Objective To determine the frequency of mutations in CDKL5 in both male and female patients with infantile spasms or early onset epilepsy of unknown cause, and to consider whether the breadth of the reported phenotype would be extended by studying a different patient group. Methods Two groups of patients were investigated for CDKL5 mutations. Group 1 comprised 73 patients (57 female, 16 male) referred to Cardiff for CDKL5 analysis, of whom 49 (42 female, 7 male) had epileptic seizure onset in the first six months of life. Group 2 comprised 26 patients (11 female, 15 male) with infantile spasms previously recruited to a clinical trial, the UK Infantile Spasms Study. Where a likely pathogenic mutation was identified, further clinical data were reviewed. Results Seven likely pathogenic mutations were found among female patients from group 1 with epileptic seizure onset in the first six months of life, accounting for seven of the 42 in this group (17%). No mutations other than the already published mutation were found in female patients from group 2, or in any male patient from either study group. All patients with mutations had early signs of developmental delay and most had made little developmental progress. Further clinical information was available for six patients: autistic features and tactile hypersensitivity were common but only one had suggestive Rett?like features. All had a severe epileptic seizure disorder, all but one of whom had myoclonic jerks. The EEG showed focal or generalised changes and in those with infantile spasms, hypsarrhythmia. Slow frequencies were seen frequently with a frontal or fronto?temporal predominance and high amplitudes. Conclusions The spectrum of the epileptic seizure disorder, and associated EEG changes, in those with CDKL5 mutations is broader than previously reported. CDKL5 mutations are a significant cause of infantile spasms and early epileptic seizures in female patients, and of a later intractable seizure disorder, irrespective of whether they have suspected Rett syndrome. Analysis should be considered in these patients in the clinical setting.

Archer, H L; Evans, J; Edwards, S; Colley, J; Newbury-Ecob, R; O'Callaghan, F; Huyton, M; O'Regan, M; Tolmie, J; Sampson, J; Clarke, A; Osborne, J

2006-01-01

233

Age at onset determines severity and choice of treatment in early rheumatoid arthritis: a prospective study  

PubMed Central

Introduction Disease activity, severity and comorbidity contribute to increased mortality in patients with rheumatoid arthritis (RA). We evaluated the impact of age at disease onset on prognostic risk factors and treatment in patients with early disease. Methods In this study, 950 RA patients were followed regularly from the time of inclusion (<12 months from symptom onset) for disease activity (erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), tender and/or swollen joints, Visual Analogue Scale pain and global scores, and Disease Activity Score in 28 joints (DAS28)) and function (Health Assessment Questionnaire (HAQ)). Disease severity, measured on the basis of radiographs of the hands and feet (erosions based on Larsen score), extraarticular disease, nodules, and comorbidities and treatment (disease-modifying antirheumatic drugs (DMARDs), corticosteroids, biologics and nonsteroidal anti-inflammatory drugs) were recorded at the time of inclusion and at 5 years. Autoantibodies (rheumatoid factor, antinuclear antibodies and antibodies against cyclic citrullinated peptides (ACPAs)) and genetic markers (human leucocyte antibody (HLA) shared epitope and protein tyrosine phosphatase nonreceptor type 22 (PTPN22)) were analysed at the time of inclusion. Data were stratified as young-onset RA (YORA) and late-onset RA (LORA), which were defined as being below or above the median age at the time of onset of RA (58 years). Results LORA was associated with lower frequency of ACPA (P < 0.05) and carriage of PTPN22-T variant (P < 0.01), but with greater disease activity at the time of inclusion measured on the basis of ESR (P < 0.001), CRP (P < 0.01) and accumulated disease activity (area under the curve for DAS28 score) at 6 months (P < 0.01), 12 months (P < 0.01) and 24 months (P < 0.05), as well as a higher HAQ score (P < 0.01) compared with YORA patients. At baseline and 24 months, LORA was more often associated with erosions (P < 0.01 for both) and higher Larsen scores (P < 0.001 for both). LORA was more often treated with corticosteroids (P < 0.01) and less often with methotrexate (P < 0.001) and biologics (P < 0.001). YORA was more often associated with early DMARD treatment (P < 0.001). The results of multiple regression analyses supported our findings regarding the impact of age on chosen treatment. Conclusion YORA patients were more frequently ACPA-positive than LORA patients. LORA was more often associated with erosions, higher Larsen scores, higher disease activity and higher HAQ scores at baseline. Nevertheless, YORA was treated earlier with DMARDs, whilst LORA was more often treated with corticosteroids and less often with DMARDs in early-stage disease. These findings could have implications for the development of comorbidities.

2014-01-01

234

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

235

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

2013-01-01

236

Hereditary distal myopathy with onset in early infancy. Observation of a family.  

PubMed

The study of a family affected with hereditary distal myopathy with onset in early infancy is presented. Complete neurological examination was necessary in several members of the two last generations to discover the existence of the abnormalities of which they were unaware. The propositus was the most affected member of the family iwth distal paresis of the upper and lower extremities and selective paresis of the deltoid muscles. In addition he had kyphoscoliosis, talipes valgus and limitation of mobility of several joints. The onset of the disease was estimated as before the age of 2 when the child started walking. There was no progression of the disease. Clinical examination suggested a myopathic origin of the condition. A sural nerve biopsy was normal. Light-microscopy histochemical studies disclosed a predominance of type I fibres which were at the same time hypotrophic. Subsarcolemmal deposits of mitochondria were present although they were scanty and of normal ultrastructural appearance. In view of the morphological presentation it is postulated that this disease should be classified within the groups of myopathies accompanied by disproportion of fibres and selective atrophy of type I fibres. PMID:681974

Bautista, J; Rafel, E; Castilla, J M; Alberca, R

1978-07-01

237

Slit ventricle syndrome and early-onset secondary craniosynostosis in an infant  

PubMed Central

Patient: Female, 14 months Final Diagnosis: Slit ventricle syndrome Symptoms: Hydrocephalus • lethargy and seizure • vomiting Medication: — Clinical Procedure: — Specialty: Pediatrics and Neonatology Objective: Challenging differential diagnosis Background: Shunt surgery is a common solution for hydrocephalus in infancy. Slit ventricle syndrome and secondary craniosynostosis are late-onset complications after shunt placement; these 2 conditions occasionally occur together. Case Report: We report a case of early-onset secondary craniosynostosis with slit ventricle syndrome after shunt surgery in an infant, which led to a catastrophic increase in intracranial pressure (ICP). A 4-month-old girl with a Dandy-Walker malformation underwent a ventriculoperitoneal shunt procedure. Her head circumference (HC) gradually decreased to approximately the 5th percentile for her age group after shunt surgery. Seven months later, she developed increased ICP symptoms and underwent a shunt revision with a diagnosis of shunt malfunction. Her symptoms were temporarily relieved, but she repeatedly visited the emergency room (ER) for the same symptoms and finally collapsed, with an abrupt increase in ICP, 3 months later. Further evaluation revealed the emergence of sagittal synostosis at 7 months after initial shunt surgery. After reviewing all clinical data, slit ventricle syndrome combined with secondary craniosynostosis was diagnosed. Emergent cranial expansion surgery with shunt revision was performed, and the increased ICP signs subsided in the following days. Conclusions: Clinical suspicion and long-term HC monitoring are important in the diagnosis of slit ventricle syndrome and secondary craniosynostosis after shunt surgery, even in infants and young children.

Ryoo, Hyun Gee; Kim, Seung-Ki; Cheon, Jung-Eun; Lee, Ji Yeoun; Wang, Kyu-Chang; Phi, Ji Hoon

2014-01-01

238

Decision-making impairments in adolescents with early-onset schizophrenia.  

PubMed

Adolescence is a time of vulnerability for risk-taking behaviors. This is particularly true of adolescents with schizophrenia who present with high rates of substance use as compared to the general population. Using the Iowa Gambling Task (IGT), the authors compared decision-making processes in adolescents with early-onset schizophrenia (onset of psychosis by age 18) to that of healthy volunteers. Fifteen adolescents with schizophrenia (aged 12-21 years) and 25 demographically similar healthy volunteers were administered the IGT. Overall, adolescents with schizophrenia performed significantly worse on the IGT than healthy adolescents as measured by a significant group by block interaction. Post-hoc testing revealed that adolescents with schizophrenia performed more poorly than healthy adolescents during the last two blocks of the task. Mathematical modeling further indicated that adolescents with schizophrenia allocated significantly more attention to monetary gains than losses encountered during the task, suggesting a hypersensitivity to rewards and relative insensitivity to future consequences. This is similar to what has been reported for adults with externalizing forms of psychopathology, such as those who abuse substances. These findings have potential implications for understanding the increased vulnerability for the development of substance abuse in adolescents with schizophrenia. PMID:16733084

Kester, Hana M; Sevy, Serge; Yechiam, Eldad; Burdick, Katherine E; Cervellione, Kelly L; Kumra, Sanjiv

2006-07-01

239

Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum.  

PubMed Central

To determine the prevalence of early-onset Alzheimer disease (EOAD) and of autosomal dominant forms of EOAD (ADEOAD), we performed a population-based study in the city of Rouen (426,710 residents). EOAD was defined as onset of disease at age <61 years, and ADEOAD was defined as the occurrence of at least three EOAD cases in three generations. Using these stringent criteria, we calculated that the EOAD and ADEOAD prevalences per 100,000 persons at risk were 41.2 and 5.3, respectively. We then performed a mutational analysis of the genes for amyloid precursor protein (APP), presenilin 1 (PSEN1), and presenilin 2 (PSEN2) in 34 families with ADEOAD ascertained in France. In 19 (56%) of these families, we identified 16 distinct PSEN1 missense mutations, including 4 (Thr147Ile, Trp165Cys, Leu173Trp, and Ser390Ile) not reported elsewhere. APP mutations, including a novel mutation located at codon 715, were identified in 5 (15%) of the families. In the 10 remaining ADEOAD families and in 9 additional autosomal dominant Alzheimer disease families that did not fulfill the strict criteria for ADEOAD, no PSEN1, PSEN2, or APP mutation was identified. These results show that (1) PSEN1 and APP mutations account for 71% of ADEOAD families and (2) nonpenetrance at age <61 years is probably infrequent for PSEN1 or APP mutations.

Campion, D; Dumanchin, C; Hannequin, D; Dubois, B; Belliard, S; Puel, M; Thomas-Anterion, C; Michon, A; Martin, C; Charbonnier, F; Raux, G; Camuzat, A; Penet, C; Mesnage, V; Martinez, M; Clerget-Darpoux, F; Brice, A; Frebourg, T

1999-01-01

240

Medial temporal atrophy in early and late-onset Alzheimer's disease.  

PubMed

Late-onset and early-onset Alzheimer's disease (LOAD, EOAD) affect different neural systems and may be separate nosographic entities. The most striking differences are in the medial temporal lobe, severely affected in LOAD and relatively spared in EOAD. We assessed amygdalar morphology and volume in 18 LOAD and 18 EOAD patients and 36 aged-matched controls and explored their relationship with the hippocampal volume. Three-dimensional amygdalar shape was reconstructed with the radial atrophy mapping technique, hippocampal volume was measured using a manual method. Atrophy was greater in LOAD than EOAD: 25% versus 17% in the amygdala and 20% versus 13% in the hippocampus. In the amygdala, LOAD showed significantly greater tissue loss than EOAD in the right dorsal central, lateral, and basolateral nuclei (20%-30% loss, p < 0.03), all known to be connected to limbic regions. In LOAD but not EOAD, greater hippocampal atrophy was associated with amygdalar atrophy in the left dorsal central and medial nuclei (r = 0.6, p < 0.05) also part of the limbic system. These findings support the notion that limbic involvement is a prominent feature of LOAD but not EOAD. PMID:24721821

Cavedo, Enrica; Pievani, Michela; Boccardi, Marina; Galluzzi, Samantha; Bocchetta, Martina; Bonetti, Matteo; Thompson, Paul M; Frisoni, Giovanni B

2014-09-01

241

Using hip measures to avoid misdiagnosing early rapid onset osteoarthritis for osteonecrosis.  

PubMed

In the early phases, subchondral insufficiency fractures and rapidly destructive osteoarthritis of the hip are often mistaken for osteonecrosis of the hip. Three hip measures were used comparing combined subchondral insufficiency fractures and rapidly destructive 18 osteoarthritis patients to 18 osteonecrosis patients. Due to the rarity of these conditions there was no statistical power. Initial diagnoses for the osteoarthritis patients were recorded. The osteoarthritis group had significantly higher means for Tönnis angle (P<0.001), lateral center edge angle (P=0.006), and acetabular extrusion index (P=0.014). Only 7 of the 18 patients were initially diagnosed without reservation as subchondral insufficiency fracture or rapidly destructive osteoarthritis. Using hip measures will reduce the misdiagnosis of rapid onset osteoarthritis of the hip for osteonecrosis. PMID:24360489

Nelson, Fred R T; Bhandarkar, Varun S; Woods, Tammy A

2014-06-01

242

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

243

[New-onset left bundle branch block as an early electrocardiographic feature of takotsubo cardiomyopathy].  

PubMed

Takotsubo cardiomyopathy is a recently described syndrome characterized by reversible left ventricular dysfunction, chest pain, ST-segment elevation, and minor elevation in serum levels of cardiac enzymes, in the absence of significant coronary artery disease. ST-segment elevation is the most common electrocardiographic finding on the admission ECG of patients, followed by evolutionary T-wave inversions. We report a case of takotsubo cardiomyopathy characterized by the unusual feature of a new onset transient left bundle branch block as first electrocardiographic manifestation. New left bundle branch block increases heterogeneity in the broad spectrum of electrocardiographic findings of takotsubo syndrome, contributing to ambiguity in the early recognition and affecting potential management strategies. PMID:20860167

Di Cori, Andrea; Gemignani, Cristina; Lazzari, Mauro; Lorenzoni, Roberto; Boni, Andrea; Cortigiani, Lauro; Bovenzi, Francesco

2010-05-01

244

Early onset obesity and adrenal insufficiency associated with a homozygous POMC mutation  

PubMed Central

Isolated hypocortisolism due to ACTH deficiency is a rare condition that can be caused by homozygous or compound heterozygous mutations in the gene encoding proopiomelanocortin (POMC). Loss of function mutations of POMC gene typically results in adrenal insufficiency, obesity and red hair. We describe an 18 month old Hispanic female with congenital adrenal insufficiency, a novel POMC mutation and atypical clinical features. The patient presented at the age of 9 months with hypoglycemia and the endocrine evaluation resulted in a diagnosis of ACTH deficiency. She developed extreme weight gain prompting sequence analysis of POMC, which revealed a homozygous c.231C > A change which is predicted to result in a premature termination codon. The case we report had obesity, hypocortisolism but lacked red hair which is typical for subjects with POMC mutations. Mutations of POMC should be considered in individuals with severe early onset obesity and adrenal insufficiency even when they lack the typical pigmentary phenotype.

2011-01-01

245

Early onset obesity and adrenal insufficiency associated with a homozygous POMC mutation.  

PubMed

Isolated hypocortisolism due to ACTH deficiency is a rare condition that can be caused by homozygous or compound heterozygous mutations in the gene encoding proopiomelanocortin (POMC). Loss of function mutations of POMC gene typically results in adrenal insufficiency, obesity and red hair. We describe an 18 month old Hispanic female with congenital adrenal insufficiency, a novel POMC mutation and atypical clinical features. The patient presented at the age of 9 months with hypoglycemia and the endocrine evaluation resulted in a diagnosis of ACTH deficiency. She developed extreme weight gain prompting sequence analysis of POMC, which revealed a homozygous c.231C > A change which is predicted to result in a premature termination codon. The case we report had obesity, hypocortisolism but lacked red hair which is typical for subjects with POMC mutations. Mutations of POMC should be considered in individuals with severe early onset obesity and adrenal insufficiency even when they lack the typical pigmentary phenotype. PMID:21860632

Mendiratta, Meenal S; Yang, Yaping; Balazs, Andrea E; Willis, Alecia S; Eng, Christine M; Karaviti, Lefkothea P; Potocki, Lorraine

2011-01-01

246

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

247

A Comparison of Family History of Psychiatric Disorders Among Patients With Early and Late-Onset Alzheimer's Disease  

Microsoft Academic Search

Objective: Both early-onset Alzheimer's disease (EOAD) and late-onset Alzheimer's disease (LOAD) present with cognitive and psychiatric features.Some studies suggest that EOAD pa- tients are more likely than LOAD patients to have psychiatric symptoms.If this is true, relatives of EOAD patients with a similar clinical presenta- tion may be more likely to be misclassified as hav- ing a primary noncognitive psychiatric

Gayatri Devi; Jennifer Williamson; Fadi Massoud; Karen Anderson; Yaakov Stern; D. P. D. P. Devanand; Richard Mayeux

2004-01-01

248

Periodontal Breakdown in the Dmp1 Null Mouse Model of Hypophosphatemic Rickets  

PubMed Central

Dentin Matrix Protein 1 (DMP1) is highly expressed in alveolar bone and cementum, which are important components of the periodontium. Therefore, we hypothesized that Dmp1 is critical for the integrity of the periodontium, and that deletion may lead to increased susceptibility to disease. An early-onset periodontal defect was observed in the Dmp1 null mouse, a mouse model of hypophosphatemic rickets. The alveolar bone is porous, with increased proteoglycan expression. The cementum is also defective, as characterized by irregular, punctate fluorochrome labeling and elevated proteoglycan. The osteocyte and cementocyte lacuno-canalicular system of both alveolar bone and cementum is abnormal, with irregular lacunar walls and fewer canaliculi. As a consequence, there is significant interproximal alveolar bone loss, combined with detachment between the periodontal ligament (PDL) and cementum. We propose that defective alveolar bone and cementum may account for the periodontal breakdown and increased susceptibility to bacterial infection in Dmp1 null mice.

Ye, L.; Zhang, S.; Ke, H.; Bonewald, L. F.; Feng, JQ.

2008-01-01

249

Periodontal breakdown in the Dmp1 null mouse model of hypophosphatemic rickets.  

PubMed

Dentin Matrix Protein 1 (DMP1) is highly expressed in alveolar bone and cementum, which are important components of the periodontium. Therefore, we hypothesized that Dmp1 is critical for the integrity of the periodontium, and that deletion may lead to increased susceptibility to disease. An early-onset periodontal defect was observed in the Dmp1 null mouse, a mouse model of hypophosphatemic rickets. The alveolar bone is porous, with increased proteoglycan expression. The cementum is also defective, as characterized by irregular, punctate fluorochrome labeling and elevated proteoglycan. The osteocyte and cementocyte lacuno-canalicular system of both alveolar bone and cementum is abnormal, with irregular lacunar walls and fewer canaliculi. As a consequence, there is significant interproximal alveolar bone loss, combined with detachment between the periodontal ligament (PDL) and cementum. We propose that defective alveolar bone and cementum may account for the periodontal breakdown and increased susceptibility to bacterial infection in Dmp1 null mice. PMID:18573980

Ye, L; Zhang, S; Ke, H; Bonewald, L F; Feng, J Q

2008-07-01

250

Relationship of Early Onset Baldness to Prostate Cancer in African-American Men  

PubMed Central

Background Early onset baldness has been linked to prostate cancer (CaP), however, little is known about this relationship in African Americans (AA) who are at elevated CaP risk. Methods We recruited 219 AA controls and 318 AA CaP cases. We determined age-stratified associations of baldness with CaP occurrence and severity defined by high stage (T3/T4) or high grade (Gleason 7+.) Associations of androgen metabolism genotypes (CYP3A4, CYP3A5, CYP3A43, AR-CAG, SRD5A2 A49T, and SRD5A2 V89L), family history, alcohol intake, and smoking were examined by baldness status and age group by using multivariable logistic regression models. Results Baldness was associated with odds of CaP (OR=1.69, 95% CI=1.05–2.74). Frontal baldness was associated with high stage (OR=2.61, 95% CI=1.10–6.18) and high grade (OR=2.20, 95% CI=1.05–4.61) tumors. For men diagnosed less than age 60, frontal baldness was associated with high stage (OR=6.51, 95% CI=2.11–20.06) and high grade (OR=4.23, 95% CI=1.47–12.14). We also observed a suggestion of an interaction among smoking, median age and any baldness (p=0.02). Conclusions We observed significant associations between early onset baldness and CaP in AA men. Interactions with age and smoking were suggested in these associations. Studies are needed to investigate the mechanisms influencing the relationship between baldness and CaP in AA. Impact AA men present with unique risk factors including baldness patterns that may contribute to CaP disparities.

Zeigler-Johnson, Charnita; Morales, Knashawn H.; Spangler, Elaine; Chang, Bao-Li; Rebbeck, Timothy R.

2013-01-01

251

Comparative Effectiveness of Second-Generation Antipsychotic Medications in Early-Onset Schizophrenia  

PubMed Central

Scant information exists to guide pharmacological treatment of early-onset schizophrenia. We examine variation across commonly prescribed second-generation antipsychotic medications in medication discontinuation and psychiatric hospital admission among children and adolescents clinically diagnosed with schizophrenia. A 45-state Medicaid claims file (2001–2005) was analyzed focusing on outpatients, aged 6–17 years, diagnosed with schizophrenia or a related disorder prior to starting a new episode of antipsychotic monotherapy with risperidone (n = 805), olanzapine (n = 382), quetiapine (n = 260), aripiprazole (n = 173), or ziprasidone (n = 125). Cox proportional hazard regressions estimated adjusted hazard ratios of 180-day antipsychotic medication discontinuation and 180-day psychiatric hospitalization for patients treated with each medication. During the first 180 days following antipsychotic initiation, most youth treated with quetiapine (70.7%), ziprasidone (73.3%), olanzapine (73.7%), risperidone (74.7%), and aripirazole (76.5%) discontinued their medication (?2 = 1.69, df = 4, P = .79). Compared with risperidone, the adjusted hazards of antipsychotic discontinuation did not significantly differ for any of the 4-comparator medications. The percentages of youth receiving inpatient psychiatric treatment while receiving their initial antipsychotic medication ranged from 7.19% (aripiprazole) to 9.89% (quetiapine) (?2 = 0.79, df = 4, P = .94). As compared with risperidone, the adjusted hazard ratio of psychiatric hospital admission was 0.96 (95% CI: 0.57–1.61) for olanzapine, 1.03 (95% CI: 0.59–1.81) for quetiapine, 0.85 (95% CI: 0.43–1.70) for aripiprazole, and 1.22 (95% CI: 0.60–2.51) for ziprasidone. The results suggest that rapid antipsychotic medication discontinuation and psychiatric hospital admission are common in the community treatment of early-onset schizophrenia. No significant differences were detected in risk of either adverse outcome across 5 commonly prescribed second-generation antipsychotic medications.

Olfson, Mark; Gerhard, Tobias; Huang, Cecilia; Lieberman, Jeffrey A.; Bobo, William V.; Crystal, Stephen

2012-01-01

252

MSH6 and MUTYH Deficiency Is a Frequent Event in Early-Onset Colorectal Cancer  

PubMed Central

Purpose Early-onset colorectal cancer (CRC) is suggestive of a hereditary predisposition. Lynch syndrome is the most frequent CRC hereditary cause. The MUTYH gene has also been related to hereditary CRC. A systematic characterization of these two diseases has not been reported previously in this population. Experimental Design We studied a retrospectively collected series of 140 patients ?50 years old diagnosed with nonpolyposis CRC. Demographic, clinical, and familial features were obtained. Mismatch repair (MMR) deficiency was determined by microsatellite instability (MSI) analysis, and immunostaining for MLH1, MSH2, MSH6, and PMS2 proteins. Germline MMR mutations were evaluated in all MMR-deficient cases. Tumor samples with loss of MLH1 or MSH2 protein expression were analyzed for somatic methylation. Germline MUTYH mutations were evaluated in all cases. BRAF V600E and KRAS somatic mutational status was also determined. Results Fifteen tumors (11.4%) were MSI, and 20 (14.3%) showed loss of protein expression (7 for MLH1/PMS2, 2 for isolated MLH1, 3 for MSH2/MSH6, 7 for isolated MSH6, and 1 for MSH6/PMS2). We identified 11 (7.8%) germline MMR mutations, 4 in MLH1, 1 in MSH2, and 6 in MSH6. Methylation analysis revealed one case with somatic MLH1 methylation. Biallelic MUTYH mutations were detected in four (2.8%) cases. KRAS and BRAF V600E mutations were present in 39 (27.9%) and 5 (3.6%) cases, respectively. Conclusions Loss of MSH6 expression is the predominant cause of MMR deficiency in early-onset CRC. Our findings prompt the inclusion of MSH6 and MUTYH screening as part of the genetic counseling of these patients and their relatives.

Giraldez, Maria Dolores; Balaguer, Francesc; Bujanda, Luis; Cuatrecasas, Miriam; Munoz, Jenifer; Alonso-Espinaco, Virginia; Larzabal, Mikel; Petit, Anna; Gonzalo, Victoria; Ocana, Teresa; Moreira, Leticia; Enriquez-Navascues, Jose Maria; Boland, C. Richard; Goel, Ajay; Castells, Antoni; Castellvi-Bel, Sergi

2011-01-01

253

Comparative effectiveness of second-generation antipsychotic medications in early-onset schizophrenia.  

PubMed

Scant information exists to guide pharmacological treatment of early-onset schizophrenia. We examine variation across commonly prescribed second-generation antipsychotic medications in medication discontinuation and psychiatric hospital admission among children and adolescents clinically diagnosed with schizophrenia. A 45-state Medicaid claims file (2001-2005) was analyzed focusing on outpatients, aged 6-17 years, diagnosed with schizophrenia or a related disorder prior to starting a new episode of antipsychotic monotherapy with risperidone (n = 805), olanzapine (n = 382), quetiapine (n = 260), aripiprazole (n = 173), or ziprasidone (n = 125). Cox proportional hazard regressions estimated adjusted hazard ratios of 180-day antipsychotic medication discontinuation and 180-day psychiatric hospitalization for patients treated with each medication. During the first 180 days following antipsychotic initiation, most youth treated with quetiapine (70.7%), ziprasidone (73.3%), olanzapine (73.7%), risperidone (74.7%), and aripirazole (76.5%) discontinued their medication (?(2) = 1.69, df = 4, P = .79). Compared with risperidone, the adjusted hazards of antipsychotic discontinuation did not significantly differ for any of the 4-comparator medications. The percentages of youth receiving inpatient psychiatric treatment while receiving their initial antipsychotic medication ranged from 7.19% (aripiprazole) to 9.89% (quetiapine) (?(2) = 0.79, df = 4, P = .94). As compared with risperidone, the adjusted hazard ratio of psychiatric hospital admission was 0.96 (95% CI: 0.57-1.61) for olanzapine, 1.03 (95% CI: 0.59-1.81) for quetiapine, 0.85 (95% CI: 0.43-1.70) for aripiprazole, and 1.22 (95% CI: 0.60-2.51) for ziprasidone. The results suggest that rapid antipsychotic medication discontinuation and psychiatric hospital admission are common in the community treatment of early-onset schizophrenia. No significant differences were detected in risk of either adverse outcome across 5 commonly prescribed second-generation antipsychotic medications. PMID:21307041

Olfson, Mark; Gerhard, Tobias; Huang, Cecilia; Lieberman, Jeffrey A; Bobo, William V; Crystal, Stephen

2012-06-01

254

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

PubMed

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 benign skin conditions (n=390) under the age of 40 years were identified through Yale's Dermatopathology database. Factors most strongly associated with early-onset BCC were skin reaction to first summer sun for 1 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 case status (37% of cases) than a single BCC case status. MC1R, number of moles, skin reaction to first summer sun for 1 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. PMID:22158557

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

2012-04-01

255

Aberrant high-frequency desynchronization of cerebellar cortices in early-onset psychosis  

PubMed Central

Sensorimotor integration deficits are routinely observed in both schizophreniform and mood-disordered psychoses. Neurobiological theories of schizophrenia and related psychoses have proposed aberrations in large scale cortico-thalamic-cerebellar-thalamic-cortical loops may underlie integration abnormalities, and that such dysfunctional connectivity may be central to the pathophysiology. In this study, we utilized a basic mechanoreception task to probe cortical-cerebellar circuitry in early-onset psychosis. Ten adolescents with psychosis and 10 controls completed unilateral tactile stimulation of the right and left index finger, as whole-head magnetoencephalography (MEG) data were acquired. MEG data were imaged in the frequency-domain, using spatial filtering, and the resulting event-related synchronizations and desynchronizations (ERS/ERD) were subjected to voxel-wise analyses of group and task effects using statistical parametric mapping. Our results indicated bilateral ERD activation of cerebellar regions and postcentral gyri in both groups during stimulation of either hand. Interestingly, during left finger stimulations, adolescents with psychosis exhibited greater alpha and gamma ERD activity in right cerebellar cortices relative to controls. Subjects with psychosis also showed greater ERD in bilateral cerebellum and the right postcentral gyrus during right finger stimulation, and these differences were statistically stronger for higher frequency bins. Lastly, controls exhibited greater alpha ERS of the right postcentral gyrus during right finger stimulation. These findings provide new data on the neurodevelopmental trajectory of basic mechanoreception in adolescents, and also indicate aberrant cerebellar functioning in early-onset psychoses, especially in the right cerebellum, which may be the crucial dysfunctional node in cortico-thalamic-cerebellar-thalamic-cortical circuits.

Wilson, Tony W.; Slason, Erin; Hernandez, Olivia O.; Asherin, Ryan; Reite, Martin L.; Teale, Peter D.; Rojas, Donald C.

2009-01-01

256

Genetic mutations in early-onset Parkinson's disease Mexican patients: molecular testing implications.  

PubMed

Mutations in PARK2, PINK1, and DJ-1 have been associated with autosomal recessive early-onset Parkinson's disease. Here, we report the prevalence of sequence and structural mutations in these three main recessive genes in Mexican Mestizo patients. The complete sequences of these three genes were analyzed by homo/heteroduplex DNA formation and direct sequencing; exon dosage was determined by multiplex ligation-dependent probe amplification and real-time PCR in 127 patients belonging to 122 families and 120 healthy Mexican Mestizo controls. All individuals had been previously screened for the three most common LRRK2 mutations. The presence of two mutations in compound heterozygous or homozygous genotypes was found in 16 unrelated patients, 10 had mutations in PARK2, six in PINK1, and none in DJ-1. Two PARK2-PINK1 and one PARK2-LRRK2 digenic cases were observed. Novel mutations were identified in PARK2 and PINK1 genes, including PINK1 duplication for the first time. Exon dosage deletions were the most frequent mutations in PARK2 (mainly in exons 9 and 12), followed by those in PINK1. The high prevalence of heterozygous mutations in PARK2 (12.3%) and the novel heterozygous and homozygous point mutations in PINK1 observed in familial and sporadic cases from various states of Mexico support the concept that single heterozygous mutations in recessive Parkinson's disease genes play a pathogenic role. These data have important implications for genetic counseling of Mexican Mestizo patients with early-onset Parkinson's disease. The presence of digenic inheritance underscores the importance of studying several genes in this disease. A step-ordered strategy for molecular diagnosis is proposed. PMID:24677602

Monroy-Jaramillo, Nancy; Guerrero-Camacho, Jorge Luis; Rodríguez-Violante, Mayela; Boll-Woehrlen, Marie-Catherine; Yescas-Gómez, Petra; Alonso-Vilatela, María Elisa; López-López, Marisol

2014-04-01

257

Managing the Risk for Early Onset Osteoporosis in Long-Duration Astronauts Due to Spaceflight  

NASA Technical Reports Server (NTRS)

Early Onset Osteoporosis is probably the most recognized but poorly understood long-term health risk due to spaceflight. Osteoporosis management is primarily prophylactic and clinical interventions rely upon the ability to predict fractures which is currently determined by surrogate measures of bone strength. The RMAT for Early Onset Osteoporosis identified some open issues related to the fact that long-duration astronauts compose a unique group of subjects for which clinical approaches for osteoporosis management do not apply. Long-duration astronauts are healthy, young (25 to 55 years of age), predominantly male, and physical fit relative to the typical osteoporosis patient. Moreover, during prolonged space missions (typically 6-month missions) the skeleton not only adapts to weightlessness, but is influenced by numerous risk factors induced by operational constraints, e.g., inability to maintain preflight weight-bearing and aerobic activities, sub-optimal dietary intake (e.g., high sodium content for food stability, lack of fresh fruit and vegetables), suppression of vitamin D metabolism by uv shielding, and remote medicine care. Moreover, adaptation results in novel changes to astronauts bones that cannot be detected by current medically-useful measures. Consequently, a panel of clinicians (recognized leaders and policy-makers in osteoporosis) was convened to review the dataset of bone measures and bone loss risk factors in long-duration astronauts. Driven by the queries in the RMAT, the panel was charged to determine 1) if an intervention is required to prevent this risk, 2) what type and at what time would intervention be optimal, 3) what is the clinical trigger that would require a medical response from flight surgeons and 4) how should research data be used in the clinical care of astronauts. Hence, the RMAT determined that a bone health policy need to be formulated specific for this unique cohort subjected to a novel skeletal condition

Sibonga, Jean D.

2010-01-01

258

A same deficit of cognitive inhibition in early and late-onset depression in elderly women: a pilot study.  

PubMed

Objective: Late-life depression has been associated with frontostriatal abnormalities that are thought to lead to deficits of cognitive inhibition. However, it remains unclear, whether age-of-onset identifies subgroups of depression. The objective of this study was to compare cognitive inhibition in depressed women aged 60 and older, according to age of the first onset depression (before or after 60 years old). Methods: We compared 10 currently depressed women (HDRS-17 ?18) with a late-onset depression to 10 depressed women with an early-onset depression, and to 10 healthy controls. We examined cognitive inhibition (Stroop, Hayling, Go/No-Go), shifting (TMT), updating in working memory (WAIS) and executive functions (BREF). All groups were matched for age, education level, and MMSE score (MMSE ?24). Results: Depressed elderly women with a late and an early-onset depression had a greater impairment in executive functions and cognitive inhibition compared with healthy controls (p<0,001), but without significant differences according to the age of the first onset depression. Futhermore, late-onset depression in women was significantly correlated with a deficit of cognitive inhibition (rs=0.55; p=0.012). Conclusion: Cognitive inhibition should be assessed in late-life depression. Interventions may be developed to specifically target cognitive impairment in the prevention of late-life depression, to identify those who are the most vulnerable to relapse. PMID:23015233

Deguigne, Florence; Jollant, Fabrice; Lhuillier, Jean-Paul; Garre, Jean-Bernard; Richard-Devantoy, Stéphane

2012-09-01

259

Novel Missense Mutation in the NOD2 Gene in a Patient with Early Onset Ulcerative Colitis: Causal or Chance Association?  

PubMed Central

Deregulated immune response to gut microflora in genetically predisposed individuals is typical for inflammatory bowel diseases. It is reasonable to assume that genetic association with the disease will be more pronounced in subjects with early onset than adult onset. The nucleotide-binding oligomerization domain containing-2 gene, commonly involved in multifactorial risk of Crohn’s disease, and interleukin 10 receptor genes, associated with rare forms of early onset inflammatory bowel diseases, were sequenced in an early onset patient. We identified a novel variant in the NOD2 gene (c.2857A > G p.K953E) and two already described missense variants in the IL10RA gene (S159G and G351R). The new NOD2 missense variant was examined in silico with two online bioinformatics tools to predict the potentially deleterious effects of the mutation. Although cumulative effect of these variations in the early onset of the disease can be only hypothesized, we demonstrated that family information and in silico studies can be used to predict association with the disease.

Girardelli, Martina; Vuch, Josef; Tommasini, Alberto; Crovella, Sergio; Bianco, Anna Monica

2014-01-01

260

Increased risk of cancer in patients with early-onset cataracts: a nationwide population-based study.  

PubMed

Early-onset cataracts are associated with insufficient antioxidative activity, and, therefore, a potential risk of cancer. This study investigated the risk of cancer after being diagnosed with early-onset cataracts. Retrospective claims data from the Taiwan National Health Insurance Research Database were analyzed. Study subjects were comprised of patients with early-onset cataracts, aged 20-55 years (International Classification of Diseases, 9th Revision, Clinical Modification [ICD-9-CM] code 366.00, 366.01, 366.02, 366.03, 366.04, 366.09, 366.17 and 366.18) and newly diagnosed between 1997 and 2010 (n = 1281), and a comparison cohort without the disease (n = 5124). Both cohorts were followed up until 2010 to estimate the incidences of cancer. We used the Poisson regression model to compare incidence rate ratios and the 95% confidence interval (CI). Cox proportional hazards regression was used to assess the hazard ratio (HR) of cancer associated with early-onset cataracts. The overall incidence rate of all cancers was 2.19-fold higher in the early-onset cataract cohort than in the comparison cohort (8.06 vs 3.68 per 1000 person-years) with an adjusted HR of 2.13 (95% CI = 1.48, 3.07). The site-specific analysis also showed a strong relationship, with adjusted HR of 3.24 ((95% CI = 1.30, 8.10) for head and neck cancer, 3.29 (95% CI 1.16, 9.31) for hepatoma and 3.19 (95% CI 1.34, 7.58) for breast cancer. The present study suggests that patients with early-onset cataracts are at an increased risk of being diagnosed with cancer in subsequent years. PMID:24450445

Chiang, Chun Chi; Lin, Cheng-Li; Peng, Chiao-Ling; Sung, Fung-Chang; Tsai, Yi-Yu

2014-04-01

261

Alu -specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder  

Microsoft Academic Search

Mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene in Xp22.13 have been associated with infantile spasms, early-onset intractable epilepsy, and a Rett syndrome (RTT)-like\\u000a phenotype. Using array comparative genomic hybridization, we identified variable-sized microdeletions involving exons 1–4\\u000a of the CDKL5 gene in three females with early-onset seizures. Two of these deletions were flanked by Alu repetitive elements and may have

Ayelet Erez; Amina J. Patel; Xueqing Wang; Zhilian Xia; Samarth S. Bhatt; William Craigen; Sau Wai Cheung; Richard A. Lewis; Ping Fang; Sandra L. H. Davenport; Pawel Stankiewicz; Seema R. Lalani

2009-01-01

262

Predictors of early-onset permanent hearing loss in malnourished infants in Sub-Saharan Africa.  

PubMed

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 criteria for undernutrition by the Growth Standards of the World Health Organization (WHO) based on weight-for-age, weight-for-length and body-mass-index-for-age were enlisted. EPHL was determined after two-stage screening with transient-evoked otoacoustic emissions, automated auditory brainstem response and diagnostic evaluation. Factors predictive of EPHL were explored with multivariable logistic regression analysis. Some 39 (1.7%) infants from 2254 undernourished infants were confirmed with hearing loss (>30 dB HL). Bilateral EPHL was mild in 7 (17.9%) and moderate-to-profound in 26 (66.7%). EPHL was unilateral in 6 (15.4%). Multiparity, chronological age of more than 30 days, the absence of skilled attendant at birth and severe neonatal jaundice were associated with an increased risk of EPHL while having a Christian mother and exclusive breast feeding had protective effect against EPHL. EPHL is highly prevalent among undernourished infants and associated with modifiable risk factors that can be addressed at the community-level and used as a basis for targeted intervention in resource-poor countries. PMID:20952158

Olusanya, Bolajoko O

2011-01-01

263

Predictive role of high sensitive C-reactive protein in early onset mortality after ischemic stroke  

PubMed Central

Background High sensitive C-reactive protein (hs-CRP) is a systemic inflammatory marker that is produced in a large amount by hepatocytes in response to interleukin-1 (IL-1), IL-6 and tumor necrosis factor after ischemic stroke. Methods Measurement of hs-CRP in the first 24 hours of onset in 162 patients suffering from ischemic stroke was done. Relation of CRP with the risk of early mortality, National Institutes of Health Stroke Scale (NIHSS), stroke subtypes and other factors was determined. Results Regarding to ROC curve analysis, appropriate cut-off point for predicting patients’ short time mortality was equal to 2.15 mg/dl in this study. Significantly increased rate of mortality by 13.3 times was seen in patients with simultaneous CRP > 2.15 mg/dl and NIHSS > 10. Conclusion The Result of this study showed that there is a direct association between hs-CRP and mortality within the first week after stroke. Measuring hs-CRP within the first hours after stroke increases the predicting rate of early mortality risk with cut-off point of 2.15.

Mohebbi, Shahrzad; Ghaffarpour, Majid; Meisami, Ali Pasha; Siah, Reza Shah; Mirkala, Mohammad Reza Mousavi; Ashraf, Maryam Pour; Yaghubi, Mahbubeh

2012-01-01

264

Metabolic consequences of the early onset of obesity in common marmoset monkeys  

PubMed Central

Objective We assess the common marmoset as a model of early obesity. We test the hypotheses that juvenile marmosets with excess adipose tissue will display higher fasting glucose, decreased insulin sensitivity, and decreased ability to clear glucose from the blood stream. Design and Methods Normal and Obese (body fat > 14%) common marmoset infants (N = 39) were followed from birth until one year. Body fat was measured by quantitative magnetic resonance. Circulating glucose was measured by glucometer; insulin, adiponenctin and leptin by commercial assays. The QUICKI (a measure of insulin sensitivity) was calculated for subjects with fasting glucose and insulin measures. Oral glucose tolerance tests were conducted at 12 months on 35 subjects. Results At 6 months Obese subjects already had significantly lower insulin sensitivity (mean QUICKI = .378±.029 versus .525±.019, N=11, p=.003). By 12 months Obese subjects also had higher fasting glucose (129.3±9.1 mg/dL versus 106.1±6.5 mg/dL, p=.042) and circulating adiponectin tended to be lower (p=.057). Leptin was associated with percent body fat; however, birth weight also influenced circulating leptin. The OGTT results demonstrated that Obese animals had a decreased ability to clear glucose. Conclusions Early onset obesity in marmosets results in impaired glucose homeostasis by one year.

Power, Michael L.; Ross, Corinna N.; Schulkin, Jay; Ziegler, Toni E.; Tardif, Suzette D.

2013-01-01

265

Pituitary abnormalities in Prader-Willi syndrome and early onset morbid obesity.  

PubMed

Prader-Willi syndrome (PWS) is a well-defined syndrome of childhood-obesity which can serve as a model for investigating early onset childhood obesity. Many of the clinical features of PWS (e.g., hyperphagia, hypogonadotropic hypogonadism, growth hormone deficiency) are hypothesized to be due to abnormalities of the hypothalamus and/or pituitary gland. Children who become severely obese very early in life (i.e., before age 4 years) may also have a genetic etiology of their obesity, perhaps with associated neuroendocrine and hypothalamo-pituitary defects, as infants and very young children have limited access to environmental factors that contribute to obesity. We hypothesized that morphologic abnormalities of the pituitary gland would be seen in both individuals with PWS and other subjects with early onset morbid obesity (EMO). This case-control study included individuals with PWS (n = 27, age 3 months to 39 years), patients with EMO of unknown etiology (n = 16, age 4-22 years; defined as body mass index greater than the 97th centile for age before age 4 years), and normal weight siblings (n = 25, age 7 months to 43 years) from both groups. Participants had 3-dimensional magnetic resonance imaging to evaluate the pituitary gland, a complete history and physical examination, and measurement of basal pituitary hormones. Subjects with PWS and EMO had a higher prevalence of pituitary morphological abnormalities than did control subjects (74% PWS, 69% EMO, 8% controls; P < 0.001). Anterior pituitary hormone deficiencies were universal in individuals with PWS (low IGF-1 in 100%, P < 0.001 PWS vs. controls; central hypothyroidism in 19%, P = 0.052, and hypoplastic genitalia or hypogonadotropic hypogonadism in 100%, P < 0.001), and was often seen in individuals with EMO (6%, P = 0.89 vs. control, 31%, P = 0.002, and 25%, P = 0.018, respectively). The presence of a hypoplastic pituitary gland appeared to correlate with the presence of anterior pituitary hormone deficiencies in individuals with EMO, but no correlation was apparent in individuals with PWS. In conclusion, the high frequency of both morphological and hormonal abnormalities of the pituitary gland in both individuals with PWS and EMO suggests that abnormalities in the hypothalamo-pituitary axis are features not only of PWS, but also frequently of EMO of unknown etiology. PMID:17431897

Miller, Jennifer L; Goldstone, Anthony P; Couch, Jessica A; Shuster, Jonathan; He, Guojun; Driscoll, Daniel J; Liu, Yijun; Schmalfuss, Ilona M

2008-03-01

266

The Relationship Between Early Age of Onset of Initial Substance Use and Engaging in Multiple Health Risk Behaviors Among Young Adolescents  

Microsoft Academic Search

Background: Previous research based on problem- behavior theory has found that early age of onset of sub- stance use is associated with engaging in multiple health risk behaviors among high school students. It is unknown whether these relationships begin during early adolescence. Objective: To examine the relationships between early age of onset of cigarette, alcohol, marijuana, and co- caine use

Robert H. DuRant; Jeffrey A. Smith; Shelley R. Kreiter; Daniel P. Krowchuk

1999-01-01

267

Early-onset sepsis in very low birth weight neonates: A report from the National Institute of Child Health and Human Development Neonatal Research Network  

Microsoft Academic Search

OBJECTIVE: Early-onset sepsis (occurring within 72 hours of birth) is included in the differential diagnosis of most very low birth weight (VLBW) neonates. To determine the current incidence of early-onset sepsis, risk factors for disease, and the impact of early-onset sepsis on subsequent hospital course, we studied a cohort of 7861 VLBW neonates (401 to 1500 gm) admitted to the

Barbara J. Stoll; Tavia Gordon; Sheldon B. Korones; Seetha Shankaran; Jon E. Tyson; Charles R. Bauer; Avroy A. Fanaroff; James A. Lemons; Edward F. Donovan; William Oh; David K. Stevenson; Richard A. Ehrenkranz; Lu-Ann Papile; Joel Verter; Linda L. Wright

1996-01-01

268

Functional connectivity changes differ in early and late-onset alzheimer's disease.  

PubMed

At a similar stage, patients with early onset Alzheimer's disease (EOAD) have greater neocortical but less medial temporal lobe dysfunction and atrophy than the late-onset form of the disease (LOAD). Whether the organization of neural networks also differs has never been investigated. This study aims at characterizing basal functional connectivity (FC) patterns of EOAD and LOAD in two groups of 14 patients matched for disease duration and severity, relative to age-matched controls. All subjects underwent an extensive neuropsychological assessment. Magnetic resonance imaging was used to quantify atrophy and resting-state FC focusing on : the default mode network (DMN), found impaired in earlier studies on AD, and the anterior temporal network (ATN) and dorso-lateral prefrontal network (DLPFN), respectively involved in declarative memory and executive functions. Patterns of atrophy and cognitive impairment in EOAD and LOAD were in accordance with previous reports. FC within the DMN was similarly decreased in both EOAD and LOAD relative to controls. However, a double-dissociated pattern of FC changes in ATN and DLPFN was found. EOAD exhibited decreased FC in the DLPFN and increased FC in the ATN relative to controls, while the reverse pattern was found in LOAD. In addition, ATN and DLPFN connectivity correlated respectively with memory and executive performances, suggesting that increased FC is here likely to reflect compensatory mechanisms. Thus, large-scale neural network changes in EOAD and LOAD endorse both common features and differences, probably related to a distinct distribution of pathological changes. Hum Brain Mapp 35:2978-2994, 2014. © 2013 Wiley Periodicals, Inc. PMID:24123475

Gour, Natalina; Felician, Olivier; Didic, Mira; Koric, Lejla; Gueriot, Claude; Chanoine, Valérie; Confort-Gouny, Sylviane; Guye, Maxime; Ceccaldi, Mathieu; Ranjeva, Jean Philippe

2014-07-01

269

Early- and Late-Onset Pneumonia: Is This Still a Useful Classification??  

PubMed Central

The choice of empirical treatment of nosocomial pneumonia in the intensive-care unit (ICU) used to rely on the interval after the start of mechanical ventilation. Nowadays, however, the question of whether in fact there is a difference in the distribution of causative pathogens is under debate. Data from 308 ICUs from the German National Nosocomial Infection Surveillance System, including information on relevant pathogens isolated in 11,285 cases of nosocomial pneumonia from 1997 to 2004, were used for our evaluation. Each individual pneumonia case was allocated either to early- or to late-onset pneumonia, with three differentiation criteria: onset on the 4th day, the 5th day, or the 7th day in the ICU. The frequency of pathogens was evaluated according to these categories. A total of 5,066 additional cases of pneumonia were reported from 2005 to 2006, after the CDC criteria had been modified. From 1997 to 2004, the most frequent microorganisms were Staphylococcus aureus (2,718 cases, including 720 with methicillin [meticillin]-resistant S. aureus), followed by Pseudomonas aeruginosa (1,837 cases), Klebsiella pneumoniae (1,305 cases), Escherichia coli (1,137 cases), Enterobacter spp. (937 cases), streptococci (671 cases), Haemophilus influenzae (509 cases), Acinetobacter spp. (493 cases), and Stenotrophomonas maltophilia (308 cases). The order of the four most frequent pathogens (accounting for 53.7% of all pathogens) was the same in both groups and was independent of the cutoff categories applied: S. aureus was first, followed by P. aeruginosa, K. pneumoniae, and E. coli. Thus, the predictabilities of the occurrence of pathogens were similar for the earlier (1997-to-2004) and later (2005-to-2006) time frames. This classification is no longer helpful for empirical antibiotic therapy, since the pathogens are the same for both groups.

Gastmeier, Petra; Sohr, Dorit; Geffers, Christine; Ruden, Henning; Vonberg, Ralf-Peter; Welte, Tobias

2009-01-01

270

Frequency of activating mutations in FGFR2 exon 7 in bladder tumors from patients with early-onset and regular-onset disease  

PubMed Central

The FGF/FGFR-system plays an important role in embryogenesis, tissue homeostasis and carcinogenesis. Mutational activation of FGFR2 resulting in aberrant FGFR2 signaling activation is known from both hereditary germ line alterations and somatic mutations in various malignancies (e.g. breast, gastric or ovarian cancer). FGFR2 mutations are mainly located within the hinge between Ig-like domains (exon 7), around the 3rd Ig-like domains and within the kinase domain. For bladder cancer only sparse data on FGFR2 mutations are available. Most interestingly a case of early-onset papillary carcinoma of the bladder showing a FGFR2 p.Pro253Arg mutation in exon 7 in a patient with Apert Syndrome was reported recently. To further evaluate the importance of FGFR2 exon 7 alterations in bladder cancer a cohort of 254 bladder tumors (cohort 1: unselected cases: n=139; cohort 2: early-onset bladder cancer cases (age at time of diagnosis ?45 years): n=115) was analyzed. Sections from formalin-fixed, paraffin-embedded bladder tumors were used for DNA isolation. After precise microdissection exon 7 of the FGFR2 gene was analyzed by direct Sanger sequencing. All cases could be analyzed successfully. Mutations in exon 7 of FGFR2 could not be detected in any of the cases. All tumors showed wild type sequence. Our data demonstrate that the recently reported association between early-onset papillary carcinoma of the bladder with germ line FGFR2 p.Pro253Arg mutation could not be found in our cohorts of sporadic bladder tumors. These results indicate that FGFR2 gene mutations might only play a minor role in bladder carcinogenesis.

Spiegelberg, Christine; Giedl, Johannes; Gaisa, Nadine T; Rogler, Anja; Riener, Marc-Oliver; Filbeck, Thomas; Burger, Maximilian; Ruemmele, Petra; Hartmann, Arndt; Stoehr, Robert

2014-01-01

271

Frequency of activating mutations in FGFR2 exon 7 in bladder tumors from patients with early-onset and regular-onset disease.  

PubMed

The FGF/FGFR-system plays an important role in embryogenesis, tissue homeostasis and carcinogenesis. Mutational activation of FGFR2 resulting in aberrant FGFR2 signaling activation is known from both hereditary germ line alterations and somatic mutations in various malignancies (e.g. breast, gastric or ovarian cancer). FGFR2 mutations are mainly located within the hinge between Ig-like domains (exon 7), around the 3rd Ig-like domains and within the kinase domain. For bladder cancer only sparse data on FGFR2 mutations are available. Most interestingly a case of early-onset papillary carcinoma of the bladder showing a FGFR2 p.Pro253Arg mutation in exon 7 in a patient with Apert Syndrome was reported recently. To further evaluate the importance of FGFR2 exon 7 alterations in bladder cancer a cohort of 254 bladder tumors (cohort 1: unselected cases: n=139; cohort 2: early-onset bladder cancer cases (age at time of diagnosis?45 years): n=115) was analyzed. Sections from formalin-fixed, paraffin-embedded bladder tumors were used for DNA isolation. After precise microdissection exon 7 of the FGFR2 gene was analyzed by direct Sanger sequencing. All cases could be analyzed successfully. Mutations in exon 7 of FGFR2 could not be detected in any of the cases. All tumors showed wild type sequence. Our data demonstrate that the recently reported association between early-onset papillary carcinoma of the bladder with germ line FGFR2 p.Pro253Arg mutation could not be found in our cohorts of sporadic bladder tumors. These results indicate that FGFR2 gene mutations might only play a minor role in bladder carcinogenesis. PMID:24817968

Spiegelberg, Christine; Giedl, Johannes; Gaisa, Nadine T; Rogler, Anja; Riener, Marc-Oliver; Filbeck, Thomas; Burger, Maximilian; Ruemmele, Petra; Hartmann, Arndt; Stoehr, Robert

2014-01-01

272

Early and late onset side effects of short-acting insulin analogue in seven Japanese diabetic patients.  

PubMed

Short-acting insulin analogue has previously shown to be equal to short-acting human regular insulin regarding in vitro characteristics, immunogenicity, and safety. But in the present study, we experienced seven patients who had mild to moderate side effects due to short-acting insulin analogue. These side effects could be divided into two types based on the appearance time; one with early onset and the other with late onset. Early onset side effects include rash, disturbances in walking and general fatigue that can not be explained by the swing in glucose levels. These symptoms appeared 2-3 days after the use of short-acting insulin analogue and disappeared several hours after switching short-acting human regular insulin. The late onset side effect is bilateral leg edema, which appeared 1-2 months after the induction of short-acting insulin analogue and disappeared after several hours by changing to short-acting human regular insulin. We should monitor the early and late onset side effects as diligently as possible when we use short-acting insulin analogue on diabetic patients. PMID:17306902

Kuroe, Akira; Taniuguchi, Ataru; Fukushima, Mitsuo; Nakai, Yoshikatsu; Ohgushi, Minako; Ohya, Michihiro; Seino, Yutaka

2007-09-01

273

Disease Expression and HLA Types in Early and Late Onset Disease of Malaysian Patients with Systemic Lupus Erythematosus  

PubMed Central

Age has been suggested to modify systemic lupus erythematosus expression. In this study we have attempted to study 13 patients with late onset (40 years and above) and 90 with early onset disease (below 40 years) to determine whether age-related differences in disease expression exist and whether the genetic make-up influences the age of disease onset. We found that patients with late onset disease initially presented with pericarditis (31% vs 3%, P<0.005) and a lower incidence of malar rash (31% vs 57%, p<0.05). During the disease course, there was a lower incidence of mucocutaneous symptoms especially malar rash (p<0.005) and psychosis (p<0.05) in the late onset group. Serological parameters were similar in both groups. There was a prevalence of HLA-DQA1*0103 in Chinese patients with late onset disease (pcorr=0.004). These findings suggest that a subgroup of late onset patients may experience milder disease and that the risk conferred by the HLA-DQA1*0103 may be significant among these patients.

Radzi, Azizah Mohd; Huan, Kuak Soo; Yahaya, Normaznah; Shahera, Ainol; Kong, Norella; Mohd Noah, Rahim

2001-01-01

274

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 Pediatric…

Nieto, Rebeca Garcia; Castellanos, F. Xavier

2011-01-01

275

Genetic Variation in the Human Androgen Receptor Gene Is the Major Determinant of Common Early-Onset Androgenetic Alopecia  

Microsoft Academic Search

Androgenetic alopecia (AGA), or male-pattern baldness, is the most common form of hair loss. Its pathogenesis is androgen dependent, and genetic predisposition is the major requirement for the phenotype. We demonstrate that genetic variability in the androgen receptor gene (AR) is the cardinal prerequisite for the development of early- onset AGA, with an etiological fraction of 0.46. The investigation of

Axel M. Hillmer; Sandra Hanneken; Sibylle Ritzmann; Tim Becker; Jan Freudenberg; Felix F. Brockschmidt; Antonia Flaquer; Yun Freudenberg-Hua; Rami Abou Jamra; Christine Metzen; Uwe Heyn; Nadine Schweiger; Regina C. Betz; Bettina Blaumeiser; Jochen Hampe; Stefan Schreiber; Thomas G. Schulze; Hans Christian Hennies; Johannes Schumacher; Peter Propping; Thomas Ruzicka; Sven Cichon; Thomas F. Wienker; Roland Kruse; Markus M. Nöthen

2005-01-01

276

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

277

Double-Blind Maintenance Safety and Effectiveness Findings from the Treatment of Early-Onset Schizophrenia Spectrum (TEOSS) Study  

ERIC Educational Resources Information Center

Objective: To examine the long-term safety and efficacy of three antipsychotics in early-onset schizophrenia spectrum disorders. Method: Patients (8 to 19 years old) who had improved during an 8-week, randomized, double-blind acute trial of olanzapine, risperidone, or molindone (plus benztropine) were eligible to continue on the same medication…

Findling, Robert L.; Johnson, Jacqueline L.; McClellan, Jon; Frazier, Jean A.; Vitiello, Benedetto; Hamer, Robert M.; Lieberman, Jeffrey A.; Ritz, Louise; McNamara, Nora K.; Lingler, Jacqui; Hlastala, Stefanie; Pierson, Leslie; Puglia, Madeline; Maloney, Ann E.; Kaufman, Emily Michael; Noyes, Nancy; Sikich, Linmarie

2010-01-01

278

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

279

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

280

Chromosome 9p21.3 is Associated with Early-Onset Coronary Heart Disease in the Irish Population  

PubMed Central

Coronary heart disease (CHD) remains a leading cause of death across the world. A region on chromosome 9p21.3 has been recently reported to be associated with CHD. We evaluated 3 SNPs and 3 common haplotypes in the 9p21.3 region in 1494 individuals from 580 Irish families, where at least 1 member had early-onset (males ?55yr, females ?60yr) CHD. Genotypes were determined by multiplex SNaPshot technology. Using the combined TDT/S-TDT test, the 3 single nucleotide polymorphisms (SNP), rs10757274, rs2383206 and rs1333049, were strongly associated with early-onset CHD (p = 2.7 × 10-6, 2.7 × 10-6, 3.8 × 10-7, respectively). Analysis of haplotypes by the TRANSMIT program also showed that the GGC haplotype was associated with early-onset CHD (p = 7.9 × 10-7). In conclusion, using a family-based approach in the Irish population, we have confirmed previous reports of association between a region on chromosome 9p21.3 and early-onset CHD.

Meng, Weihua; Hughes, Anne E.; Patterson, Chris C.; Belton, Christine; Kee, Frank; McKeown, Pascal P.

2008-01-01

281

Chromosome 9p21.3 is associated with early-onset coronary heart disease in the Irish population.  

PubMed

Coronary heart disease (CHD) remains a leading cause of death across the world. A region on chromosome 9p21.3 has been recently reported to be associated with CHD. We evaluated 3 SNPs and 3 common haplotypes in the 9p21.3 region in 1494 individuals from 580 Irish families, where at least 1 member had early-onset (males early-onset CHD (p = 2.7 x 10(-6), 2.7 x 10(-6), 3.8 x 10(-7), respectively). Analysis of haplotypes by the TRANSMIT program also showed that the GGC haplotype was associated with early-onset CHD (p=7.9 x 10(-7)). In conclusion, using a family-based approach in the Irish population, we have confirmed previous reports of association between a region on chromosome 9p21.3 and early-onset CHD. PMID:18957718

Meng, Weihua; Hughes, Anne E; Patterson, Chris C; Belton, Christine; Kee, Frank; McKeown, Pascal P

2008-01-01

282

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

283

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

284

The effect of intrapartum antibiotics on early-onset neonatal sepsis in Dhaka, Bangladesh: a propensity score matched analysis  

PubMed Central

Background We estimate the effect of antibiotics given in the intrapartum period on early-onset neonatal sepsis in Dhaka, Bangladesh using propensity score techniques. Methods We followed 600 mother-newborn pairs as part of a cohort study at a maternity center in Dhaka. Some pregnant women received one dose of intravenous antibiotics during labor based on clinician discretion. Newborns were followed over the first seven days of life for early-onset neonatal sepsis defined by a modified version of the World Health Organization Young Infants Integrated Management of Childhood Illnesses criteria. Using propensity scores we matched women who received antibiotics with similar women who did not. A final logistic regression model predicting sepsis was run in the matched sample controlling for additional potential confounders. Results Of the 600 mother-newborn pairs, 48 mothers (8.0%) received antibiotics during the intrapartum period. Seventy-seven newborns (12.8%) were classified with early-onset neonatal sepsis. Antibiotics appeared to be protective (odds ratio 0.381, 95% confidence interval 0.115–1.258), however this was not statistically significant. The results were similar after adjusting for prematurity, wealth status, and maternal colonization status (odds ratio 0.361, 95% confidence interval 0.106–1.225). Conclusions Antibiotics administered during the intrapartum period may reduce the risk of early-onset neonatal sepsis in high neonatal mortality settings like Dhaka.

2014-01-01

285

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

286

Microcephaly and simplified gyral pattern of the brain associated with early onset insulin-dependent diabetes mellitus  

Microsoft Academic Search

Two families are presented with a child suffering from microcephaly with a simplified gyral pattern of the brain (SGP) and early onset insulin dependent diabetes mellitus (IDDM). The first patient was diagnosed postmortally with Wolcott–Rallison syndrome, after her younger brother developed IDDM, and a homozygous mutation in the eukaryotic translation initiation factor 2-alpha kinase 3 was found. The younger brother

M. C. Y. de Wit; I. F. M. de Coo; C. Julier; M. Delépine; M. H. Lequin; I. van de Laar; B. J. Sibbles; G. J. Bruining; G. M. S. Mancini

2006-01-01

287

Mitochondrial DNA and TFAM gene variation in early-onset myocardial infarction: Evidence for an association to haplogroup H  

Microsoft Academic Search

The main objective of this research was to define the association between common mitochondrial DNA (mtDNA) polymorphisms and mitochondrial transcription A gene (TFAM) variants and myocardial infarction (MI) in patients with atherosclerotic diseased vessels. Ten mitochondrial polymorphisms that defined the nine common European haplogroups were genotyped in 500 male patients with early onset MI (<55years) and at least one atherosclerotic

María Palacín; Victoria Alvarez; María Martín; Marta Díaz; Ana I. Corao; Belén Alonso; Beatriz Díaz-Molina; Iñigo Lozano; Pablo Avanzas; César Morís; Julián R. Reguero; Isabel Rodríguez; Carlos López-Larrea; Jorge Cannata-Andía; Alberto Batalla; Marta Ruiz-Ortega; Pablo Martínez-Camblor; Eliecer Coto

2011-01-01

288

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

289

A common variant on chromosome 9p21 affects the risk of early-onset coronary artery disease.  

PubMed

Background Two single nucleotide polymorphisms (SNPs, rs10757278 and rs2383207) on chromosome 9p21 have been proved to be associated with myocardial infarction. We investigated whether these two genetic markers are determinants of early-onset coronary artery disease. Methods and results A total of 444 consecutive patients were studied including 212 cases with coronary stenosis >or=50% or previous myocardial infarction and 232 controls without documented coronary artery disease. Ligase detection reaction was performed to detect two SNPs. After adjustment of clinical parameters, significant associations were identified for the rs2383207 and rs10757278 SNPs, with A/G and G/G genetypes at rs10757278 and G/G genetype carriers at rs2383207 having a higher risk of early-onset coronary artery disease than carriers of A/A genotype (odds ratio [OR] 2.207, 95% CI: 1.069-4.394, P = 0.028; OR 3.051, 95% CI: 1.086-8.567, P = 0.004; OR 2.964, 95% CI: 1.063-8.265, P = 0.038, respectively). There were no associations between rs10757278 and rs2383207 genotypes and the severity of coronary artery disease (both P > 0.05). Conclusions The rs10757278 and rs2383207 variants are determinants for early-onset coronary artery disease. These markers may help the identification of patients at increased risk for early-onset coronary artery disease. PMID:18459066

Chen, Zhong; Qian, Qi; Ma, Genshan; Wang, Jiahong; Zhang, Xiaoli; Feng, Yi; Shen, Chengxing; Yao, Yuyu

2009-05-01

290

Low Birth Weights Contribute to the High Rates of Early-Onset Chronic Renal Failure in the Southeastern United States  

Microsoft Academic Search

Background: The southeastern United States is a re- gion in which rates of cardiovascular and renal diseases are excessive. Within the Southeast, South Carolina has unusually high rates of end-stage renal disease (ESRD) in young people, with more than 70% of cases attrib- uted to hypertension and diabetes. Objective: To determine whether the increased vul- nerability to early-onset ESRD might

Daniel T. Lackland; Holly E. Bendall; Clive Osmond; Brent M. Egan; David J. P. Barker

2000-01-01

291

Periodontal Treatments and Procedures  

MedlinePLUS

... Procedures Periodontists are dentistry's e?xperts in treating periodontal disease. They receive up to three additional years of specialized training in periodontal disease treatment in both non-surgical treatments and periodontal ...

292

A pilot genome-wide association study of early-onset breast cancer.  

PubMed

High-density oligonucleotide microarrays containing a large number of single nucleotide polymorphisms (SNPs) have enabled genome-wide association (GWA) analysis to become a reality. We used the early access Affymetrix Mendel Nsp 250K chips in a GWA case-control pilot study to identify genomic regions associated with breast cancer. We included 30 randomly sampled incident invasive breast cancer cases aged <45 years without deleterious mutations in the BRCA1 or BRCA2 genes, and 30 population controls individually matched on age, ethnicity and geographical area. The overall genotype call rate was 97.13+/-1.33% for controls and 97.48+/-1.42% for cases. Comparison was made between cases and controls for 203,477 genotyped SNPs using (a) unconditional logistic regression (ULR), (b) conditional logistic regression (CLR) models with adjustment for the matched pairs, (c) allelic tests for single marker tests and (d) haplotype trend regression (HTR). Genomic control and EIGENSTRAT methods were used for correction of population stratification in appropriate models. We demonstrate the similarity and dissimilarity of results from different statistical analyses. We found several possible significant regions harboring biologically meaningful known candidate genes, such as genes encoding fibroblast growth factor, transforming growth factor, epidermal growth factor, and estrogen synthesis enzymes to be associated with early-onset breast cancer. In single marker analysis, none of the SNPs were statistically significant after correction for multiple testing. However, haplotype association tests, using 90730 tag-SNPs, suggested two regions in GLG1 and UGT1 genes retaining significance even after Bonferroni correction. Nevertheless, without systematic replication, findings from this pilot study, especially the associations of breast cancer in relation to specific SNPs, should be interpreted with great caution. PMID:18463975

Kibriya, Muhammad G; Jasmine, Farzana; Argos, Maria; Andrulis, Irene L; John, Esther M; Chang-Claude, Jenny; Ahsan, Habibul

2009-04-01

293

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

294

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

295

Behavioural and pharmacological examinations in a transgenic mouse model of early-onset torsion dystonia.  

PubMed

Early-onset torsion dystonia is an autosomal dominant movement disorder associated with the DYT1 gene (TOR1A) defect which results in a deletion of a glutamic acid residue in the protein torsinA. The pathophysiology of dystonia is poorly understood. Well characterized animal models can help to give insights into the underlying mechanisms and thereby to develop new therapeutics. In the present study, we further characterized transgenic DYT1 mice, which were initially described to exhibit "dystonia-like" postures. In the present study, several behavioural tests in untreated animals did not show strong differences between transgenic and control mice, but nearly all transgenic mice showed "dystonia-like" postures. However, these movements, also observed in control mice, have to be regarded as a clasping reflex. Since dystonia is thought to be related to dopaminergic dysfunctions, pharmacological investigations have been performed to clarify if dopaminergic substances alter motor behaviour in transgenic mice. Chronic treatment with L-DOPA (combined with carbidopa) enhanced the hindlimb claspings only in transgenic mice, while acute applications of drugs, which exert more selective effects on the dopaminergic system, caused similar reactions in transgenic mice and control mice. Therefore, these data do not provide clear evidence for dysfunctions of the dopaminergic system in this mouse model. PMID:21078339

Lange, Nikola; Hamann, Melanie; Shashidharan, Pullani; Richter, Angelika

2011-02-01

296

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

297

Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: the pitfalls of homozygosity mapping.  

PubMed

Retinitis pigmentosa is the most common form of hereditary retinal degeneration, with a worldwide prevalence of 1 in 4,000. At least 28 genes and loci have been implicated in nonsyndromic autosomal recessive retinitis pigmentosa. Here we report two extended and highly consanguineous families segregating early onset retinitis pigmentosa. Despite the consanguinity in both families, we found allelic heterogeneity in one of them, in which affected individuals were compound heterozygotes for two different mutations of the CRB1 gene. In the second family we found evidence for locus heterogeneity. A novel homozygous mutation of RDH12 was found in only 14 of 17 affected individuals in this family. Our data indicate that in the other affected individuals the disease is caused by a different gene/s. These findings demonstrate that while homozygosity mapping is an efficient tool for identification of the underlying mutated genes in inbred families, both locus and allelic heterogeneity may occur even within the same consanguineous family. These observations should be taken into account, especially when studying common and heterogeneous recessive genetic conditions. PMID:19140180

Benayoun, Liat; Spiegel, Ronen; Auslender, Noa; Abbasi, Anan H; Rizel, Leah; Hujeirat, Yasir; Salama, Ihsan; Garzozi, Hanna J; Allon-Shalev, Stavit; Ben-Yosef, Tamar

2009-02-15

298

Brain network informed subject community detection in early-onset schizophrenia.  

PubMed

Early-onset schizophrenia (EOS) offers a unique opportunity to study pathophysiological mechanisms and development of schizophrenia. Using 26 drug-naïve, first-episode EOS patients and 25 age- and gender-matched control subjects, we examined intrinsic connectivity network (ICN) deficits underlying EOS. Due to the emerging inconsistency between behavior-based psychiatric disease classification system and the underlying brain dysfunctions, we applied a fully data-driven approach to investigate whether the subjects can be grouped into highly homogeneous communities according to the characteristics of their ICNs. The resultant subject communities and the representative characteristics of ICNs were then associated with the clinical diagnosis and multivariate symptom patterns. A default mode ICN was statistically absent in EOS patients. Another frontotemporal ICN further distinguished EOS patients with predominantly negative symptoms. Connectivity patterns of this second network for the EOS patients with predominantly positive symptom were highly similar to typically developing controls. Our post-hoc functional connectivity modeling confirmed that connectivity strength in this frontotemporal circuit was significantly modulated by relative severity of positive and negative syndromes in EOS. This study presents a novel subtype discovery approach based on brain networks and proposes complex links between brain networks and symptom patterns in EOS. PMID:24989351

Yang, Zhi; Xu, Yong; Xu, Ting; Hoy, Colin W; Handwerker, Daniel A; Chen, Gang; Northoff, Georg; Zuo, Xi-Nian; Bandettini, Peter A

2014-01-01

299

Cutaneous granulomas and epidermodysplasia verruciformis in early onset combined immunodeficiency syndrome.  

PubMed

Cutaneous granulomas with prominent caseating necrosis are a rare manifestation of immunodeficiency. Extensive and recalcitrant cutaneous viral infections can also be seen. We present a case of an 18-year-old white man with an early onset poorly characterized combined immunodeficiency syndrome who, over the past 5 years, developed enlarging tender red-purple plaques on his extremities and pink near-confluent macules on his chest and back. Previous biopsies of the red-purple plaques showed features of granuloma annulare. Histopathological examination of old and new biopsies revealed both sarcoidal and palisading necrobiotic granulomas with perforating features and elastophagocytosis. Stains and tissue cultures were negative for bacterial and fungal organisms. In addition, biopsy of a macule on the back demonstrated verruca plana with characteristics of epidermodysplasia verruciformis. As an infant, the patient had failure to thrive and a combined immunodeficiency, but was lost to follow-up for 15 years. He currently continues to have severe hypogammaglobinemia and cellular immunodeficiency. Intravenous immunoglobulin and prednisone were initiated and his plaques improved rapidly. Topical imiquimod was ineffective for the verruca plana. The patient and his parents are currently undergoing whole exome sequencing including evaluation for epidermodysplasia verruciformis 1 and 2 gene mutations. This case highlights the importance of including genetic immunodeficiency disorders in the clinical and histopathological differential diagnosis for cutaneous sarcoidal or palisading necrobiotic granulomas and for extensive cutaneous viral infection. PMID:24247584

Wang, Yen T; Geng, Bob; Yoo, Ki-Young; Stiehm, Ewald R; Garcia-Lloret, Maria; Wong, Derek; Smart, Chandra; Worswick, Scott; Barnhill, Raymond L

2014-02-01

300

Increased frequency of TAP2B in early onset pauciarticular juvenile chronic arthritis.  

PubMed Central

OBJECTIVES--To determine whether polymorphisms of the TAP genes, which lie within the major histocompatibility complex (MHC), are associated with juvenile chronic arthritis (JCA). METHODS--Eighty five JCA patients and 166 white controls were typed for the TAP gene alleles using ARMS-PCR. The same populations were analysed for DRB1 and DPB1 alleles using PCR-SSO typing. RESULTS--TAP2B was increased in early onset pauciarticular JCA (EOPA-JCA) compared with controls (62% v 44% Odds ratio (OR) 2.1, 95% CI 0.9-4.7). After allowing for the known linkage disequilibrium between TAP2B and DR1 the association of TAP2B and EOPA-JCA was maintained (OR 3.5, 95% CI 1.3-9.7). HLA-DRB1*04 and TAP2D were found to be in linkage disequilibrium in both the control (delta 0.018 p < 0.05) and JCA patient groups (delta 0.021 p < 0.05). No linkage disequilibrium was found between the TAP and DPB1 alleles. CONCLUSIONS--The association between TAP2B and EOPA-JCA is a further indication of the heterogeneity which exists in this clinically defined subgroup of patients.

Donn, R P; Davies, E J; Holt, P L; Thomson, W; Ollier, W

1994-01-01

301

A High Degree of LINE-1 Hypomethylation Is a Unique Feature of Early-Onset Colorectal Cancer  

PubMed Central

Objective Early-onset colorectal cancer (CRC) represents a clinically distinct form of CRC that is often associated with a poor prognosis. Methylation levels of genomic repeats such as LINE-1 elements have been recognized as independent factors for increased cancer-related mortality. The methylation status of LINE-1 elements in early-onset CRC has not been analyzed previously. Design We analyzed 343 CRC tissues and 32 normal colonic mucosa samples, including 2 independent cohorts of CRC diagnosed ?50 years old (n?=?188), a group of sporadic CRC >50 years (MSS n?=?89; MSI n?=?46), and a group of Lynch syndrome CRCs (n?=?20). Tumor mismatch repair protein expression, microsatellite instability status, LINE-1 and MLH1 methylation, somatic BRAF V600E mutation, and germline MUTYH mutations were evaluated. Results Mean LINE-1 methylation levels (±SD) in the five study groups were early-onset CRC, 56.6% (8.6); sporadic MSI, 67.1% (5.5); sporadic MSS, 65.1% (6.3); Lynch syndrome, 66.3% (4.5) and normal mucosa, 76.5% (1.5). Early-onset CRC had significantly lower LINE-1 methylation than any other group (p<0.0001). Compared to patients with <65% LINE-1 methylation in tumors, those with ?65% LINE-1 methylation had significantly better overall survival (p?=?0.026, log rank test). Conclusions LINE-1 hypomethylation constitutes a potentially important feature of early-onset CRC, and suggests a distinct molecular subtype. Further studies are needed to assess the potential of LINE-1 methylation status as a prognostic biomarker for young people with CRC.

Antelo, Marina; Balaguer, Francesc; Shia, Jinru; Shen, Yan; Hur, Keun; Moreira, Leticia; Cuatrecasas, Miriam; Bujanda, Luis; Giraldez, Maria Dolores; Takahashi, Masanobu; Cabanne, Ana; Barugel, Mario Edmundo; Arnold, Mildred; Roca, Enrique Luis; Andreu, Montserrat; Castellvi-Bel, Sergi; Llor, Xavier; Jover, Rodrigo; Castells, Antoni; Boland, C. Richard; Goel, Ajay

2012-01-01

302

Pathway-Based Evaluation in Early Onset Colorectal Cancer Suggests Focal Adhesion and Immunosuppression along with Epithelial-Mesenchymal Transition  

PubMed Central

Colorectal cancer (CRC) has one of the highest incidences among all cancers. The majority of CRCs are sporadic cancers that occur in individuals without family histories of CRC or inherited mutations. Unfortunately, whole-genome expression studies of sporadic CRCs are limited. A recent study used microarray techniques to identify a predictor gene set indicative of susceptibility to early-onset CRC. However, the molecular mechanisms of the predictor gene set were not fully investigated in the previous study. To understand the functional roles of the predictor gene set, in the present study we applied a subpathway-based statistical model to the microarray data from the previous study and identified mechanisms that are reasonably associated with the predictor gene set. Interestingly, significant subpathways belonging to 2 KEGG pathways (focal adhesion; natural killer cell-mediated cytotoxicity) were found to be involved in the early-onset CRC patients. We also showed that the 2 pathways were functionally involved in the predictor gene set using a text-mining technique. Entry of a single member of the predictor gene set triggered a focal adhesion pathway, which confers anti-apoptosis in the early-onset CRC patients. Furthermore, intensive inspection of the predictor gene set in terms of the 2 pathways suggested that some entries of the predictor gene set were implicated in immunosuppression along with epithelial-mesenchymal transition (EMT) in the early-onset CRC patients. In addition, we compared our subpathway-based statistical model with a gene set-based statistical model, MIT Gene Set Enrichment Analysis (GSEA). Our method showed better performance than GSEA in the sense that our method was more consistent with a well-known cancer-related pathway set. Thus, the biological suggestion generated by our subpathway-based approach seems quite reasonable and warrants a further experimental study on early-onset CRC in terms of dedifferentiation or differentiation, which is underscored in EMT and immunosuppression.

Nam, Seungyoon; Park, Taesung

2012-01-01

303

Pathway-based evaluation in early onset colorectal cancer suggests focal adhesion and immunosuppression along with epithelial-mesenchymal transition.  

PubMed

Colorectal cancer (CRC) has one of the highest incidences among all cancers. The majority of CRCs are sporadic cancers that occur in individuals without family histories of CRC or inherited mutations. Unfortunately, whole-genome expression studies of sporadic CRCs are limited. A recent study used microarray techniques to identify a predictor gene set indicative of susceptibility to early-onset CRC. However, the molecular mechanisms of the predictor gene set were not fully investigated in the previous study. To understand the functional roles of the predictor gene set, in the present study we applied a subpathway-based statistical model to the microarray data from the previous study and identified mechanisms that are reasonably associated with the predictor gene set. Interestingly, significant subpathways belonging to 2 KEGG pathways (focal adhesion; natural killer cell-mediated cytotoxicity) were found to be involved in the early-onset CRC patients. We also showed that the 2 pathways were functionally involved in the predictor gene set using a text-mining technique. Entry of a single member of the predictor gene set triggered a focal adhesion pathway, which confers anti-apoptosis in the early-onset CRC patients. Furthermore, intensive inspection of the predictor gene set in terms of the 2 pathways suggested that some entries of the predictor gene set were implicated in immunosuppression along with epithelial-mesenchymal transition (EMT) in the early-onset CRC patients. In addition, we compared our subpathway-based statistical model with a gene set-based statistical model, MIT Gene Set Enrichment Analysis (GSEA). Our method showed better performance than GSEA in the sense that our method was more consistent with a well-known cancer-related pathway set. Thus, the biological suggestion generated by our subpathway-based approach seems quite reasonable and warrants a further experimental study on early-onset CRC in terms of dedifferentiation or differentiation, which is underscored in EMT and immunosuppression. PMID:22496728

Nam, Seungyoon; Park, Taesung

2012-01-01

304

Profile of cognitive deficits and associations with depressive symptoms and intelligence in chronic early-onset schizophrenia patients.  

PubMed

Cognitive deficits in several domains have been demonstrated in early-onset schizophrenia patients but their profile and relation to depressive symptoms and intelligence need further characterization. The purpose was to characterize the profile of cognitive deficits in chronic, early-onset schizophrenia patients, assess the potential associations with depressive symptom severity, and examine whether cognitive deficits within several domains reflect intelligence impairments. This study compared attention, visual-construction, aspects of visual and verbal memory, and executive functions in chronic, early-onset schizophrenia patients (mean age = 20.7 years) (N = 18) and healthy controls (N = 38). Schizophrenia diagnoses were established at the time of the patients' first clinical presentation during childhood or adolescence and were confirmed five years later. In the chronic phase of early-onset schizophrenia, significant deficits were observed in all specific cognitive functions. The profile of cognitive deficits was jagged, and visual-construction, attention, and one aspect of verbal memory (verbal stories recall) were differentially impaired. Deficits of visual recall, visual recognition, and executive functions were accounted for by deficits in intelligence, while this was not the case for deficits of verbal recall of stories or attention. No significant associations were observed between the severity of cognitive deficits and that of depressive symptoms. Chronic, early-onset schizophrenia is characterized by a broad and jagged profile of cognitive deficits. Deficits of attention and verbal recall of stories appear not to be accounted for by deficits in intelligence, and the severity of cognitive deficits seems independent from that of depressive symptoms. PMID:23786210

Jepsen, Jens Richardt Møllegaard; Fagerlund, Birgitte; Pagsberg, Anne Katrine; Christensen, Anne Marie Raaberg; Nordentoft, Merete; Mortensen, Erik Lykke

2013-10-01

305

Laser therapy for periodontitis  

NASA Astrophysics Data System (ADS)

An investigation was made of applying pulsed (lambda) equals 0.89 micrometers laser radiation in the treatment for early diagnosed periodontitis. The investigation was made on 65 patients (47 patients constituted the experimental group and 18 patients constituted a control group) affected by periodontitis. Clinical and functional tests revealed that laser therapy produced a string effect on the course of the illness. It reduced bleeding, inflammation, and pruritus. However, it did not produce an affect on electroexcitation. Biomicroscopic examinations and periodontium rheography revealed that the gingival blood flow became normal after the course of laser therapy. The capillary permeability and venous congestion decreased, which was confirmed by the increased time of vacuum tests, raised gingival temperature, reduced tissue clearance, and increased oxygen tension. Apart from that, laser therapy subsided fibrinolysis, proteolytic tissue activity, and decreased the exudative inflammation of periodontium.

Efanov, O. I.

2001-04-01

306

High frequency of mutations in MODY and mitochondrial genes in Scandinavian patients with familial early-onset diabetes  

Microsoft Academic Search

\\u000a \\u000a Abstract\\u000a \\u000a   \\u000a \\u000a Aims\\/hypothesis. To investigate the contribution of mutations in maturity-onset diabetes of the young (MODY) and mitochondrial genes to early-onset\\u000a diabetes with a strong family history of diabetes in a cohort with a high prevalence of Type I (insulin-dependent) diabetes\\u000a mellitus. Methods. Screening for sequence variants in the hepatocyte nuclear factor (HNF)–4\\u000a \\u000a ? (MODY1), glucokinase (MODY2), HNF-1\\u000a \\u000a ? (MODY3)

M. Lehto; C. Wipemo; S.-A. Ivarsson; C. Lindgren; M. Lipsanen-Nyman; J. Weng; L. Wibell; E. Widén; T. Tuomi; L. Groop

1999-01-01

307

Early-Onset, Coexisting Autoimmunity and Decreased HLA-Mediated Susceptibility Are the Characteristics of Diabetes in Down Syndrome  

PubMed Central

OBJECTIVE Down syndrome (DS) is associated with an increased risk of diabetes, particularly in young children. HLA-mediated risk is however decreased in children with DS and diabetes (DSD). We hypothesized that early-onset diabetes in children with DS is etiologically different from autoimmune diabetes. RESEARCH DESIGN AND METHODS Clinical and immunogenetic markers of autoimmune diabetes were studied in 136 individuals with DSD and compared with 194 age- and sex-matched individuals with type 1 diabetes, 222 with DS, and 671 healthy controls. HLA class II was analyzed by sequence-specific primed PCR. Islet autoantibodies were measured by radioimmunoassay. RESULTS Age at onset of diabetes was biphasic, with 22% of DS children diagnosed before 2 years of age, compared with only 4% in this age-group with type 1 diabetes in the general population (P < 0.0001). The frequency of the highest-risk type 1 diabetes–associated HLA genotype, DR3-DQ2/DR4-DQ8, was decreased in both early- and later-onset DSD compared with age-matched children with type 1 diabetes (P < 0.0001), although HLA DR3-DQ2 genotypes were increased (P = 0.004). Antibodies to GAD were observed in all five samples tested from children diagnosed at ?2 years of age, and persistent islet autoantibodies were detected in 72% of DSD cases. Thyroid and celiac disease were diagnosed in 74 and 14%, respectively, of the DSD cohort. CONCLUSIONS Early-onset diabetes in children with DS is unlikely to be etiologically different from autoimmune diabetes occurring in older DS children. Overall, these studies demonstrate more extreme autoimmunity in DSD typified by early-onset diabetes with multiple autoimmunity, persistent islet autoantibodies, and decreased HLA-mediated susceptibility.

Aitken, Rachel J.; Mehers, Kay L.; Williams, Alistair J.; Brown, Jamie; Bingley, Polly J.; Holl, Reinhard W.; Rohrer, Tilman R.; Schober, Edith; Abdul-Rasoul, Majedah M.; Shield, Julian P.H.; Gillespie, Kathleen M.

2013-01-01

308

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

309

Early-onset drug use and risk of later drug problems  

Microsoft Academic Search

Prior research has suggested that among illicit drug users there is an increased risk of drug abuse or dependence problems associated with earlier onset of illicit drug taking. This study examined whether the observed association might be understood best as the result of a process by which earlier onset users accumulate more time during which they can develop a drug

James C. Anthony; Kenneth R. Petronis

1995-01-01

310

Digging Deeper Using Neuroimaging Tools Reveals Important Clues to Early-Onset Schizophrenia  

ERIC Educational Resources Information Center

The article describes the use of structural neuroimaging to understand the psychopathology of childhood-onset schizophrenia. Results showed an increase in lateral volumes, reduced total and regional volumes of gray matter in the cortex and increased basal ganglia volumes as in adult-onset schizophrenia in comparison with healthy subjects.

Kumra, Sanjiv

2008-01-01

311

Early onset of increased transcapillary albumin escape in awake diabetic rats.  

PubMed

Alteration in transcapillary albumin escape rate (TERalb) is an indicator of changes in macromolecular movement at the capillary filtering bed, which can change the balance of Starling forces for fluid movement from the vasculature to the interstitium and has an impact on volume homeostasis. TERalb can be affected by morphological changes in the capillary membrane and/or alterations in the Starling forces driving larger solutes across the capillary membrane via convection. Previous studies have demonstrated an increased TERalb in established insulin-dependent diabetes (IDDM); however, whether increased TERalb is the result of morphological alterations in the microvasculature or contributes to microangiopathies could not be resolved. TERalb was examined in awake Wistar rats with untreated IDDM induced by streptozocin infusion (65 mg/kg body wt i.v.) at 24 h and 7 and 15 days and compared with control and insulin-treated 7-day IDDM rats. Increased TERalb occurred at the 24-h time point and remained elevated at 7 and 15 days of IDDM (P less than 0.05). Blood volume remained unchanged; however, systemic protein concentration increased from 4.9 +/- 0.1 g/dl in controls to 6.4 +/- 0.4 g/dl in 15-day IDDM rats. Blood glucose was significantly increased, and glycosuria was evident at all three time points of IDDM. The observed increase in TERalb within 24 h of IDDM is indicative of a functional change in the Starling forces in the capillaries, because specific morphological capillary damage is not evident at this time point in the model. The early onset of TERalb in IDDM could indicate functional changes, such as capillary hypertension, and may contribute to future vascular complications in established IDDM. PMID:2142657

Tucker, B J

1990-08-01

312

Mitochondrial DNA haplogroups in early-onset Alzheimer's disease and frontotemporal lobar degeneration  

PubMed Central

Background Mitochondrial dysfunction, oxidative damage and the accumulation of somatic mutations in mitochondrial DNA (mtDNA) have been associated with certain neurodegenerative disorders. Previous studies have also provided controversial results on the association of mtDNA haplogroups with susceptibility to Alzheimer's disease (AD), but possible relationships between mtDNA and frontotemporal lobar degeneration (FTLD) have been less frequently studied. Methods We analysed the role of mtDNA and its maintenance enzymes in 128 early-onset AD (eoAD) and in 66 FTLD cases. Patients and 99 controls were collected from a defined region of Finland, that of Northern Ostrobothnia, for the determination of mtDNA haplogroups and the analysis of two common mtDNA mutations (m.3243A>G, m.8344A>G). In addition, screening was performed for five common POLG1 mutations (T251I, A467T, P587L, W748S and Y955C) and all the coding exons of the PEO1 and ANT1 genes were screened for mutations. Results The frequency of haplogroup cluster IWX was 2.3 fold higher among the FTLD cases than in the controls (OR 2.69, 95% CI 1.09-6.65, p = 0.028). The frequency of mtDNA haplogroups or clusters did not differ between the eoAD cases and controls. The two mtDNA mutations and five POLG1 mutations were absent in the eoAD and FTLD patients. No pathogenic mutations were found in the PEO1 or ANT1 genes. Conclusions We conclude that the haplogroup cluster IWX was associated with FTLD in our cohort. Further studies in other ethnically distinct cohorts are needed to clarify the contribution of mtDNA haplogroups to FTLD and AD.

2010-01-01

313

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

314

Mutational analysis in early-onset familial Alzheimer's disease in Mainland China.  

PubMed

Mutations of 3 causative genes, namely presenilin 1 (PSEN1), presenilin 2 (PSEN2), and amyloid precursor protein (APP), have been identified as the major causes of early-onset familial Alzheimer's disease (EOFAD). Recently, a GGGGCC repeat expansion in the noncoding region of C9orf72 was also detected in some patients with clinically diagnosed familial Alzheimer's disease. The prevalence of causative gene mutations in patients with EOFAD has been reported in previous studies but their prevalence remains unclear in Mainland China. The aim of this study was to characterize the common causative gene mutation spectrum and genotype-phenotype correlations in Chinese patients with EOFAD. Genetic screening for mutations in PSEN1, PSEN2, and APP was conducted in a total of 32 families with clinical diagnoses of EOFAD from Mainland China. Subsequently, a hexanucleotide repeat expansion in C9orf72 was detected in all patients. Four novel mutations in PSEN1 (p.A434T, p.I167del, p.F105C, and p.L248P) were identified in 4 respective families, and 1 previously recognized pathogenic mutation in APP (p.V717I) was detected in another 2 unrelated families. The PSEN2 mutation and pathogenic repeat expansions of C9orf72 were not detected in all patients. To the best of our knowledge, this is the first cohort report of a causative gene screen in patients with EOFAD in Mainland China. The analysis of the genetic-clinical correlations in this cohort supports the idea that the clinical phenotype might be influenced by specific genetic defects. PMID:24650794

Jiao, Bin; Tang, Beisha; Liu, Xiaoyan; Xu, Jun; Wang, Yanjiang; Zhou, Lin; Zhang, Fufeng; Yan, Xinxiang; Zhou, Yafang; Shen, Lu

2014-08-01

315

COMBINED DIFFUSION TENSOR IMAGING AND TRANSVERSE RELAXOMETRY IN EARLY ONSET BIPOLAR DISORDER  

PubMed Central

OBJECTIVE Transverse relaxation time (T2) imaging provides the opportunity to examine membrane fluidity, which can affect a number of cellular functions. The objective of the present work was to examine T2 abnormalities of children with unmodified DSM-IV-TR Bipolar disorder (BD) in bilateral cingulate-paracingulate (CPC) white matter. METHOD Twenty-one children and adolescents with BD and sixteen controls underwent magnetic resonance imaging at 1.5 Tesla and compared using a region-of-interest analysis. A post-hoc diffusion tensor imaging (DTI) analysis was also performed on selected subjects. RESULTS The T2 values were significantly decreased on the right hand side of the subjects with BD compared with controls. Hemispheric difference was also observed in BD group, with decreased T2 on the right hand side compared with the left. No significant difference was observed between left and right CPC T2 in controls. For those participants who had both T2 and DTI measurements, significant DTI differences were observed: On the left, fractional anisotropy was reduced and trace and radial diffusivity were increased, whereas on the right trace was increased and T2 was decreased in BD subjects compared with the controls. CONCLUSIONS Our findings suggest that the observed T2 difference is a reflection of cerebral blood flow rather than the alteration of the fluidity of cell membranes. It is possible that myelin damage happens on the left hand side in early onset BD in addition to changes in the blood flow. Prospective studies with larger numbers of subjects are warranted to further explore the relevance of the presented results.

Gonenc, Atilla; Frazier, Jean A; Crowley, David J.; Moore, Constance M.

2010-01-01

316

HLA-DP/DR interaction in early onset pauciarticular juvenile chronic arthritis.  

PubMed

We investigated the polymorphic second exon of the HLA-DPB1 and HLA-DRB1 genes, using in vitro DNA amplification by polymerase chain reaction (PCR) and oligonucleotide hybridization in 136 patients with early onset pauciarticular juvenile chronic arthritis (EOPA-JCA) and 199 healthy controls. The analysis of the HLA-DRB1 system revealed that most of the DRB1 alleles are not indifferent with respect to susceptibility to EOPA-JCA. There is a hierarchy of susceptible (DRB1*08, DR5), "permissive" (DRB1*01), moderately "protective" (DR2, DRB1*04), and "protective" (DRB1*07) alleles. In contrast, no hierarchy could be shown for the HLA-DPB1 system. DPB1*0201 was found to be susceptible. The relatively frequent alleles DPB1*0402 and DPB1*0401 seem to be indifferent. The associations with DPB1*0201, DR5, and DRB1*08 are independent of each other: that is to say they, are not brought about by linkage disequilibrium. The susceptible alleles DPB1*0201 and DR5 show evidence for interaction in the pathogenesis of EOPA-JCA. Interaction seems likely between DPB1*0201 and DRB1*08, DR5 and DRB1*08, or between DR6 and DRB1*08. The strongest interaction exists between DPB1*0201 and a common DQ factor associated with both DR5 and DRB1*08. Finally, we observed a hierarchy among the various marker combinations, where the risk of developing EOPA-JCA increases with the number of associated markers present in an individual. PMID:8436419

Paul, C; Schoenwald, U; Truckenbrodt, H; Bettinotti, M P; Brünnler, G; Keller, E; Nevinny-Stickel, C; Yao, Z; Albert, E D

1993-01-01

317

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

318

Sibling sex ratio and birth order in early-onset gender dysphoric adolescents.  

PubMed

Several sibship-related variables have been studied extensively in sexual orientation research, especially in men. Sibling sex ratio refers to the ratio of brothers to sisters in the aggregate sibships of a group of probands. Birth order refers to the probands' position (e.g., first-born, middle-born, last-born) within their sibships. Fraternal birth order refers to their position among male siblings only. Such research was extended in this study to a large group of early-onset gender dysphoric adolescents. The probands comprised 94 male-to-female and 95 female-to-male gender dysphoric adolescents. The overwhelming majority of these were homosexual or probably prehomosexual. The control group consisted of 875 boys and 914 girls from the TRAILS study. The sibling sex ratio of the gender dysphoric boys was very high (241 brothers per 100 sisters) compared with the expected ratio (106:100). The excess of brothers was more extreme among the probands' older siblings (300:100) than among their younger siblings (195:100). Between-groups comparisons showed that the gender dysphoric boys had significantly more older brothers, and significantly fewer older sisters and younger sisters, than did the control boys. In contrast, the only notable finding for the female groups was that the gender dysphoric girls had significantly fewer total siblings than did the control girls. The results for the male probands were consistent with prior speculations that a high fraternal birth order (i.e., an excess of older brothers) is found in all homosexual male groups, but an elevated sibling sex ratio (usually caused by an additional, smaller excess of younger brothers) is characteristic of gender dysphoric homosexual males. The mechanisms underlying these phenomena remain unknown. PMID:21674256

Schagen, Sebastian E E; Delemarre-van de Waal, Henriette A; Blanchard, Ray; Cohen-Kettenis, Peggy T

2012-06-01

319

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

320

Neuronal ceroid lipofuscinosis with early-onset dementia and periventricular leukoencephalopathy in which a skin biopsy was diagnostically useful.  

PubMed

Neuronal ceroid lipofuscinosis (NCL) is a rare disease with onset typically during childhood; however, that developing during adulthood can lead to early-onset dementia. We report a 54-year-old man whose onset coincided with speech impairment, amnesia and dyscalculia. On brain MRI, marked diffuse leukoencephalopathy with periventricular predominance was observed. On a skin biopsy, characteristic fingerprint images were noted, and the patient was diagnosed with NCL. The differential diagnosis of cognitive impairment with leukoencephalopathy is wide ranging; however, when marked symmetrical periventricular-predominant leukoencephalopathy is prevalent and no peripheral neuropathy or gait disorders are evident, a diagnosis of NCL should be suspected and a skin biopsy should be performed. PMID:24088765

Ueda, Takeshi; Narushima, Eri; Ishida, Eri; Akiguchi, Ichiro

2013-01-01

321

A new clinical feature associated with familial early-onset of dystonic-guttural tics: An unusual diagnosis of PANDAS  

PubMed Central

Until today there is a large debate about the existence of PANDAS (pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections) or PANS (pediatric acute onset neuropsychiatric syndrome). These children usually have dramatic, “overnight” onset of symptoms, including motor or vocal tics, obsessions, and/or compulsions. In addition to these symptoms, children may also have comorbid features of associated disorders. Herein, we report a family with an early onset of tics, with exclusively dystonic and guttural tics. All patients had a particularly strong excitement trigger. Two of the patients were shown to have signs suggestive of PANDAS and all family members were Group A beta-hemolytic Streptococcus (GABHS) carriers. The PANDAS spectrum is probably a group of disorders. We have described a PANDAS variant, in which the family seems to share common autoimmune pattern and may be viewed in the large spectrum of PANDAS.

Vitaliti, Giovanna; Trifiletti, Rosario R.; Falsaperla, Raffaele; Parano, Enrico; Spalice, Alberto; Pavone, Piero

2014-01-01

322

The P239S palladin variant does not account for a significant fraction of hereditary or early onset pancreas cancer  

Microsoft Academic Search

The P239S palladin variant has recently been suggested to play a role in hereditary pancreatic cancer. We estimated the contribution of the\\u000a P239S variant, and surrounding sequence, to familial and early-onset pancreatic cancer. The P239S germline variant was identified\\u000a in one of 84 high-risk cases and one of 555 controls. The case reported an elderly relative with pancreas cancer. We

George Zogopoulous; Heidi Rothenmund; Ayelet Eppel; Colleen Ash; Mohammad Reza Akbari; David Hedley; Steven A. Narod; Steven Gallinger

2007-01-01

323

Successful perinatal outcome in an early onset intrahepatic cholestasis of pregnancy with extremely high serum hepatic function tests.  

PubMed

We report a case of a 21-year-old pregnant woman with an early onset of intrahepatic cholestasis of pregnancy with very high aminotransferases activity and bilirubin concentration. Viral and autoimmune hepatitis, and other possible causes of liver function impairment were excluded. Treatment with ursodeoxycholic acid improved biochemical markers. The patient delivered a healthy female neonate by caesarean section. Neonatal and postoperative courses were uneventful. PMID:19499412

Smolarczyk, Roman; Grymowicz, Monika; Sienko, Jacek; Czajkowski, Krzysztof

2009-07-01

324

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

2013-11-01

325

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

326

A common variant on chromosome 9p21 affects the risk of early-onset coronary artery disease  

Microsoft Academic Search

Background Two single nucleotide polymorphisms (SNPs, rs10757278 and rs2383207) on chromosome 9p21 have been proved to be associated\\u000a with myocardial infarction. We investigated whether these two genetic markers are determinants of early-onset coronary artery\\u000a disease. Methods and results A total of 444 consecutive patients were studied including 212 cases with coronary stenosis ?50% or previous myocardial infarction and 232 controls without

Zhong Chen; Qi Qian; Genshan Ma; Jiahong Wang; Xiaoli Zhang; Yi Feng; Chengxing Shen; Yuyu Yao

2009-01-01

327

Factors that differentiate early vs. later onset of major depression disorder.  

PubMed

This report explores the relationship between age of first onset of major depression and other demographic and clinical features in the first 1500 patients entering the Sequenced Treatment Alternative to Relieving Depression (STAR*D) study. Outpatients, 18-75 years of age, with nonpsychotic major depressive disorder (MDD) from either primary care or psychiatric practices constitute the population. Age of onset was defined at study intake by asking patients to estimate the age at which they experienced the onset of their first major depressive episode. This report divides the population in terms of pre-adult (before age 18) onset and adult (age 18 or later) onset. The results suggest that MDD that begins before age 18 has a distinct set of demographic (female gender) and clinical correlates (longer duration of illness; longer current episodes; more episodes; more suicidality; greater symptom severity; more psychiatric symptoms associated with Axis I comorbidity; and more sadness, irritability, agitation and atypical symptom features), and it appears associated with significant psychosocial consequences (lower educational attainment and marriage rates). Thus, pre-adulthood onset MDD is a particularly severe and chronic condition. PMID:15590040

Zisook, Sidney; Rush, A John; Albala, Ari; Alpert, Jonathan; Balasubramani, G K; Fava, Maurizio; Husain, Mustafa; Sackeim, Harold; Trivedi, Madhukar; Wisniewski, Stephen

2004-12-15

328

Amyloid burden and metabolic function in early-onset Alzheimer's disease: parietal lobe involvement.  

PubMed

Alzheimer's disease with early onset often presents with a distinct cognitive profile, potentially reflecting a different distribution of underlying neuropathology. The purpose of this study was to examine the relationships between age and both in vivo fibrillary amyloid deposition and glucose metabolism in patients with Alzheimer's disease. Dynamic [(11)C]Pittsburgh compound-B (90 min) and static [(18)F]fluorodeoxyglucose (15 min) scans were obtained in 100 patients with Alzheimer's disease and 20 healthy controls. Parametric non-displaceable binding potential images of [(11)C]Pittsburgh compound-B and standardized uptake value ratio images of [(18)F]fluorodeoxyglucose were generated using cerebellar grey matter as reference tissue. Nine [(11)C]Pittsburgh compound-B-negative patients were excluded. The remaining patients were categorized into younger (n=45, age: 56 ± 4 years) and older (n=46, age: 69 ± 5 years) groups, based on the median age (62 years) at time of diagnosis. Younger patients showed more severe impairment on visuo-spatial function, attention and executive function composite scores (P<0.05), while we found a trend towards poorer memory performance for older patients (P=0.11). Differences between groups were assessed using a general linear model with repeated measures (gender adjusted) with age as between subjects factor, region (frontal, temporal, parietal and occipital and posterior cingulate cortices) as within subjects factor and [(11)C]Pittsburgh compound-B binding/[(18)F]fluorodeoxyglucose uptake as dependent variables. There was no main effect of age for [(11)C]Pittsburgh compound-B or [(18)F]fluorodeoxyglucose, suggesting that overall, the extent of amyloid deposition or glucose hypometabolism did not differ between groups. Regional distributions of [(11)C]Pittsburgh compound-B binding and [(18)F]fluorodeoxyglucose uptake (both P for interaction <0.05) differed between groups, however, largely due to increased [(11)C]Pittsburgh compound-B binding and decreased [(18)F]fluorodeoxyglucose uptake in the parietal cortex of younger patients (both P<0.05). Linear regression analyses showed negative associations between visuo-spatial functioning and parietal [(11)C]Pittsburgh compound-B binding for younger patients (standardized ?: -0.37) and between visuo-spatial functioning and occipital binding for older patients (standardized ?: -0.39). For [(18)F]fluorodeoxyglucose, associations were found between parietal uptake with visuo-spatial (standardized ?: 0.55), attention (standardized ?: 0.39) and executive functioning (standardized ?: 0.37) in younger patients, and between posterior cingulate uptake and memory in older patients (standardized ?: 0.41, all P<0.05). These in vivo findings suggest that clinical differences between younger and older patients with Alzheimer's disease are not restricted to topographical differentiation in downstream processes but may originate from distinctive distributions of early upstream events. As such, increased amyloid burden, together with metabolic dysfunction, in the parietal lobe of younger patients with Alzheimer's disease may contribute to the distinct cognitive profile in these patients. PMID:22556189

Ossenkoppele, Rik; Zwan, Marissa D; Tolboom, Nelleke; van Assema, Danielle M E; Adriaanse, Sofie F; Kloet, Reina W; Boellaard, Ronald; Windhorst, Albert D; Barkhof, Frederik; Lammertsma, Adriaan A; Scheltens, Philip; van der Flier, Wiesje M; van Berckel, Bart N M

2012-07-01

329

PCLO Variants Are Nominally Associated With Early-Onset Type 2 Diabetes and Insulin Resistance in Pima Indians  

PubMed Central

OBJECTIVE—A prior genome-wide association (GWA) study in Pima Indians identified variants within PCLO that were associated with early-onset type 2 diabetes. PCLO encodes a presynaptic cytomatrix protein that functions as a Ca2+ sensor that may be involved in insulin secretion and/or insulin action. Therefore, PCLO was analyzed as a candidate gene for type 2 diabetes. RESEARCH DESIGN AND METHODS—Sequencing of PCLO identified four nonsynonymous variants and a 10–amino acid insertion. These variants, together with 100 additional variants identified by sequencing or chosen from databases, were genotyped for association analysis in the same 895 subjects analyzed in the prior GWA study (300 case subjects with diabetes onset at aged <25 years, 334 nondiabetic control subjects aged >45 years, and 261 discordant siblings of the case or control subjects for within-family analyses), as well as 415 nondiabetic Pima Indians who had been metabolically phenotyped for predictors of diabetes. Selected variants were further genotyped in a population-based sample of 3,501 Pima Indians. RESULTS—Four variants were modestly associated with early-onset type 2 diabetes in both general and within-family analyses (P = 0.004–0.04, recessive model), where the diabetes risk allele was also nominally associated with a lower insulin-mediated glucose disposal rate (P = 0.009–0.14, recessive model) in nondiabetic Pima Indians. However, their association with diabetes in the population-based sample was weaker (P = 0.02–0.20, recessive model). CONCLUSIONS—Variation within PCLO may have a modest effect on early-onset type 2 diabetes, possibly as a result of reduced insulin action, but has minimal, if any, impact on population-based risk for type 2 diabetes.

Ma, Lijun; Hanson, Robert L.; Que, Lorem N.; Guo, Yan; Kobes, Sayuko; Bogardus, Clifton; Baier, Leslie J.

2008-01-01

330

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

PubMed Central

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 assessed 27 former patients (mean age at first admission 15.5 years, SD = 2.0) that were consecutively admitted to the Department of Child and Adolescent Psychiatry at the University of Wuerzburg between 1990 and 2000. A multidimensional approach was chosen to assess the outcome consisting of a mail survey including different questions about psychopathological symptoms, psychosocial parameters, and standardized self-reports (ESI and ADS). Results Concerning the psychopathological outcome, 22.2% reported having acute schizophrenic symptoms. Almost one third (30.8%) described symptoms of depression and 37.0% reported having tried to commit suicide or seriously thought about it. 77.8% of the former patients were still in outpatient treatment. Compared to the general population, the number of patients without a school graduation was relatively high (18.5%). Almost half of participants still live with their parents (48.1%) or in assisted or semi-assisted living conditions (33.3%). Only 18.5% were working in the open market. Conclusion Schizophrenia with an early onset has an unfavourable prognosis. Our retrospective study of the psychopathological and psychosocial outcome concludes with a generally poor rating.

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

2008-01-01

331

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

332

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

333

Early-onset GH deficiency results in spatial memory impairment in mid-life and is prevented by GH supplementation  

PubMed Central

GH levels increase to high concentrations immediately before puberty then progressively decline with age. GH deficiency (GHD) originating in childhood is treated with GH supplementation to foster somatic development during adolescence. It is not clear if or how early GH replacement affects memory in adulthood, or whether it can prevent the cognitive deficits commonly observed in adults with childhood-onset GHD. Rats homozygous for the Dw-4 mutation (dwarf) do not exhibit the normal increase in GH at 4 weeks of age when GH levels normally rise and are used to model childhood or early-onset GHD (EOGHD).One group of these rats was injected with GH from 4 to 14 weeks of age to model GH supplementation during adolescence with GHD beginning in adulthood (adult-onset GHD; AOGHD). Another group received GH from 4 weeks throughout the lifespan to model normal lifespan GH (GH-replete). Age-matched, Dw-4 heterozygous rats (HZ) do not express the dwarf phenotype and were used as controls. At 8 and 18 months of age, spatial learning in the water maze was assessed. At 8 months of age all experimental groups were equally proficient. However, at 18 months of age, the EOGHD group had poor spatial learning compared to the AOGHD, GH-replete, and HZ groups. Our data indicate that GHD during adolescence has negative effects on learning and memory that emerge by middle-age unless prevented by GH supplementation.

Nieves-Martinez, E; Sonntag, W E; Wilson, A; Donahue, A; Molina, D P; Brunso-Bechtold, J; Nicolle, M M

2010-01-01

334

Early-onset colorectal cancer patients without family history are "at very low risk" for lynch syndrome  

PubMed Central

Introduction Several studies evaluated the prevalence of Lynch Syndrome (LS) in young onset colorectal cancer (CRC) patients and the results were extremely variable (5%-20%). Immunohistochemistry (IHC) for MMR proteins and/or MSI analysis are screening tests that are done, either by themselves or in conjunction, on colon cancer tissue to identify individuals at risk for LS. The primary aim of our study was to evaluate the prevalence of LS in a large series of early-onset CRC without family history compared with those with family history. The secondary aim was to assess the diagnostic accuracy of IHC and MSI analysis as pre-screening tools for LS. Methods Early-onset CRC patients (? 50 years) were prospectively recruited in the study. IHC and MSI analysis were performed in all the patients. Germ-line mutation analysis (GMA) was carried out in all MMR deficient tumors. A logistic regression model was performed to identify clinical features predictive of MSI-H. Results 117 early onset CRC cases were categorized in three groups (A, B, C) according with family history of CRC. IHC and MSI analysis showed MMR deficiency in 6/70 patients (8.6%) of group A, 24/40 patients (60%) of group B and none of group C. GMA showed a deleterious mutation in 19 (47.5%) patients of group B. MSI analysis had a diagnostic accuracy of 95.7% (CI 92.1-99.4) and IHC of 83.8% (CI 77.1-90.4). The logistic regression model revealed that by using a combination of the two features “No Amsterdam Criteria” and ”left sided CRC” to exclude MSI-H, accuracy was 89.7% (84.2-95.2). Conclusions Early-onset CRC patients, with left sided CRC and without family history are “at very low risk” for Lynch syndrome. The two simple criteria of family history and CRC site could be used as a pre-screening tool to evaluate whether or not patients should undergo tissue molecular screening. In the few cases of suspected LS (right sided CRC and/or Amsterdam Criteria), a reasonable approach could be to perform MSI analysis first and IHC afterwards only in MSI-H patients.

2014-01-01

335

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

336

Interleukin–8 Serum Levels at Fever Onset in Patients with Neutropenia Predict Early Medical Complications  

Microsoft Academic Search

Background: Previous studies have shown that interleukin-8 serum levels in febrile neutropenic patients are significantly higher in patients with gram-negative bacteremia than in patients with other causes of fever and may indicate unfavorable outcomes. We assessed the value of interleukin-8 serum levels at fever onset to predict clinical complications in order to confirm these earlier findings. Patients and Methods: In

A. Engel; Stefanie Knoll; P. Kern; W. V. Kern

2005-01-01

337

Late Onset Canonical Babbling: A Possible Early Marker of Abnormal Development.  

ERIC Educational Resources Information Center

Onset of canonical babbling was investigated for 1,536 high-risk infants at about 10-months corrected age. Although delays were infrequent, they were often associated with genetic, neurological, anatomical, and/or physiological abnormalities. Over half the cases of late canonical babbling, at the time of discovery, were not associated with prior…

Oller, D. Kimbrough; Eilers, Rebecca E.; Neal, A. Rebecca; Cobo-Lewis, Alan B.

1998-01-01

338

Effects of comorbidity and early age of onset in young people with Bipolar Disorder on self harming behaviour and suicide attempts  

Microsoft Academic Search

BackgroundThe age of the first episode of illness in Bipolar Disorder has been shown to be an important predictor of outcome with early onset, particularly onset before puberty, associated with greater comorbidity, a poorer quality of life and greatest impairment in functioning.

Stephanie Moor; Marie Crowe; Sue Luty; Janet Carter; Peter R. Joyce

339

Association between low activity serotonin transporter promoter genotype and early onset alcoholism with habitual impulsive violent behavior.  

PubMed

A common 44-base pair insertion/deletion polymorphism in the promoter region of the human serotonin transporter (5-HTT) gene has been observed to be associated with affective illness and anxiety-related traits. This biallelic functional polymorphism, designated long (L) and short (S), affects 5-HTT gene expression since the S promoter is less active than the L promoter. Since there is strong evidence of a disturbance in brain serotonergic transmission among antisocial, impulsive, and violent type 2 alcoholic subjects, we decided to test the hypothesis that the frequency of the S allele, which is associated with reduced 5-HTT gene expression, is higher among habitually violent type 2 alcoholics when compared with race and gender-matched healthy controls and non-violent late-onset (type 1) alcoholics. The 5-HTT promoter genotype was determined by a PCR-based method in 114 late onset (type 1) non-violent alcoholics, 51 impulsive violent recidivistic offenders with early onset alcoholism (type 2), and 54 healthy controls. All index subjects and controls were white Caucasian males of Finnish origin. The S allele frequency was higher among type 2 alcoholics compared with type 1 alcoholics (chi2 = 4.86, P = 0.028) and healthy controls (chi2 = 8.24, P = 0.004). The odds ratio for SS genotype vs LL genotype was 3.90, 95% Cl 1.37-11.11, P = 0.011 when type 2 alcoholics were compared with healthy controls. The results suggest that the 5-HTT 'S' promoter polymorphism is associated with an increased risk for early onset alcoholism associated with antisocial personality disorder and impulsive, habitually violent behavior. PMID:10483057

Hallikainen, T; Saito, T; Lachman, H M; Volavka, J; Pohjalainen, T; Ryynänen, O P; Kauhanen, J; Syvälahti, E; Hietala, J; Tiihonen, J

1999-07-01

340

Early onset MSI-H colon cancer with MLH1 promoter methylation, is there a genetic predisposition?  

PubMed Central

Background To investigate the etiology of MLH1 promoter methylation in mismatch repair (MMR) mutation-negative early onset MSI-H colon cancer. As this type of colon cancer is associated with high ages, young patients bearing this type of malignancy are rare and could provide additional insight into the etiology of sporadic MSI-H colon cancer. Methods We studied a set of 46 MSI-H colon tumors cases with MLH1 promoter methylation which was enriched for patients with an age of onset below 50 years (n = 13). Tumors were tested for CIMP marker methylation and mutations linked to methylation: BRAF, KRAS, GADD45A and the MLH1 -93G>A polymorphism. When available, normal colon and leukocyte DNA was tested for GADD45A mutations and germline MLH1 methylation. SNP array analysis was performed on a subset of tumors. Results We identified two cases (33 and 60 years) with MLH1 germline promoter methylation. BRAF mutations were less frequent in colon cancer patients below 50 years relative to patients above 50 years (p-value: 0.044). CIMP-high was infrequent and related to BRAF mutations in patients below 50 years. In comparison with published controls the G>A polymorphism was associated with our cohort. Although similar distribution of the pathogenic A allele was observed in the patients with an age of onset above and below 50 years, the significance for the association was lost for the group under 50 years. GADD45A sequencing yielded an unclassified variant. Tumors from both age groups showed infrequent copy number changes and loss-of-heterozygosity. Conclusion Somatic or germline GADD45A mutations did not explain sporadic MSI-H colon cancer. Although germline MLH1 methylation was found in two individuals, locus-specific somatic MLH1 hypermethylation explained the majority of sporadic early onset MSI-H colon cancer cases. Our data do not suggest an intrinsic tendency for CpG island hypermethylation in these early onset MSI-H tumors other than through somatic mutation of BRAF.

2010-01-01

341

A model for early onset of protection against lethal challenge with highly pathogenic H5N1 influenza virus.  

PubMed

Highly pathogenic avian influenza viruses of subtype H5N1 sporadically cause severe disease in humans and involve the risk of inducing a pandemic by gaining the ability for human-to-human transmission. In naïve poultry, primarily gallinaceous birds, the virus induces fatal disease and the used inactivated vaccines occasionally are unable to provide efficient and early onset of protection. Therefore, optimized vaccines must be developed and evaluated in model systems. In our study, we tested a novel H5 neuraminidase-deleted influenza A virus variant to analyze the induction of a very early onset of immunity. Ferrets, mice and chickens were each immunized with a single vaccine dose seven, three and one day before lethal challenge infection, respectively. Sound protection was conferred in 100% of animals immunized seven days prior to challenge infection. In these animals, no clinical signs were observed, and no challenge virus RNA was detected by real-time RT-PCR analyses of swabs, nasal washings, and organ samples. Moreover, the attenuated modified-live virus variant protected all chickens, mice, and ferrets as early as three days after vaccination against severe clinical signs. Chickens and ferrets developed hemagglutinin-specific antibodies after seven days, but no neuraminidase-specific antibodies, making this kind of neuraminidase-negative strain suitable for the DIVA ("differentiating vaccinated from infected animals") strategy. PMID:24674664

Röhrs, Susanne; Kalthoff, Donata; Beer, Martin

2014-05-01

342

Microcephaly and simplified gyral pattern of the brain associated with early onset insulin-dependent diabetes mellitus.  

PubMed

Two families are presented with a child suffering from microcephaly with a simplified gyral pattern of the brain (SGP) and early onset insulin dependent diabetes mellitus (IDDM). The first patient was diagnosed postmortally with Wolcott-Rallison syndrome, after her younger brother developed IDDM, and a homozygous mutation in the eukaryotic translation initiation factor 2-alpha kinase 3 was found. The younger brother did not undergo magnetic resonance imaging (MRI). The patient from the second family has no EIF2AK3 mutation. SGP is considered to arise from decreased neuronal proliferation or increased apoptosis at an early stage of embryonal development, but insight into the pathways involved is minimal. EIF2AK3 is involved in translation initiation. It has been proposed that loss of function mutations reduce the ability of the cell to respond to endoplasmic reticulum stress, resulting in apoptosis of pancreatic Langerhans cells. Our findings suggest that in some cases, early onset IDDM and SGP can arise from common mechanisms leading to increased apoptosis. PMID:16972080

de Wit, M C Y; de Coo, I F M; Julier, C; Delépine, M; Lequin, M H; van de Laar, I; Sibbles, B J; Bruining, G J; Mancini, G M S

2006-11-01

343

Tea, coffee, and caffeine and early-onset basal cell carcinoma in a case-control study.  

PubMed

Tea and coffee are hypothesized to play a protective role in skin carcinogenesis through bioactive components, such as caffeine, yet the epidemiologic evidence is mixed. Existing data support an inverse association with basal cell carcinoma (BCC), more so than for melanoma or squamous cell carcinoma. To understand whether tea, coffee, and caffeine are related to early-onset BCC, we evaluated data from 767 non-Hispanic Whites under age 40 in a case-control study in Connecticut. BCC cases (n=377) were identified through Yale's Dermatopathology database. Controls (n=390) were randomly sampled from individuals in the same database with benign skin diagnoses and frequency matched to cases on age, sex, and biopsy site. Participants completed an in-person interview including assessment of caffeinated coffee and hot tea. We calculated multivariate odds ratios (ORs) and 95% confidence intervals (CIs) with unconditional logistic regression for regular consumption and frequency and duration measures. Combined regular consumption of caffeinated coffee plus hot tea was inversely associated with early-onset BCC (OR=0.60, 95% CI=0.38-0.96). Those in the highest category of caffeine from these sources had a 43% reduced risk of BCC compared with nonconsumers (OR=0.57, 95% CI=0.34-0.95, P-trend=0.037). Our findings suggest a modest protective effect for caffeinated coffee plus tea in relation to early-onset BCC that may, in part, be due to caffeine. This study adds to the growing body of literature suggesting potential health benefits from these beverages. PMID:24841641

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

2014-07-01

344

Compound heterozygosity for two MSH6 mutations in a patient with early onset colorectal cancer, vitiligo and systemic lupus erythematosus.  

PubMed

Lynch syndrome (hereditary non-polyposis colorectal cancer, HNPCC) is an autosomal dominant condition caused by heterozygous germline mutations in the DNA mismatch repair (MMR) genes MLH1, MSH2, MSH6, or PMS2. Rare cases have been reported of an inherited bi-allelic deficiency of MMR genes, associated with multiple café-au-lait spots, early onset CNS tumors, hematological malignancies, and early onset gastrointestinal neoplasia. We report on a patient with vitiligo in segments of the integument who developed systemic lupus erythematosus (SLE) at the age of 16, and four synchronous colorectal cancers at age 17 years. Examination of the colorectal cancer tissue showed high microsatellite instability (MSI-H) and an exclusive loss of expression of the MSH6 protein. Immunohistochemical analysis of normal colon tissue also showed loss of MSH6, pointing to a bi-allelic MSH6 mutation. Sequencing of the MSH6 gene showed the two germline mutations; c.1806_1809delAAAG;p.Glu604LeufsX5 and c.3226C > T;p.Arg1076Cys. We confirmed that the two mutations are on two different alleles by allele-specific PCR. To our knowledge, neither parent is clinically affected. They did not wish to be tested for the mutations identified in their daughter. These data suggest that bi-allelic mutations of one of the MMR genes should be considered in patients who develop early-onset multiple HNPCC-associated tumors and autoimmune disorders, even in absence of either hematological malignancies or brain tumors. PMID:18409202

Rahner, Nils; Höefler, Gerald; Högenauer, Christoph; Lackner, Caroline; Steinke, Verena; Sengteller, Marlies; Friedl, Waltraut; Aretz, Stefan; Propping, Peter; Mangold, Elisabeth; Walldorf, Constanze

2008-05-15

345

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.  

PubMed

In severe early-onset epilepsy, precise clinical and molecular genetic diagnosis is complex, as many metabolic and electro-physiological processes have been implicated in disease causation. The clinical phenotypes share many features such as complex seizure types and developmental delay. Molecular diagnosis has historically been confined to sequential testing of candidate genes known to be associated with specific sub-phenotypes, but the diagnostic yield of this approach can be low. We conducted whole-genome sequencing (WGS) on six patients with severe early-onset epilepsy who had previously been refractory to molecular diagnosis, and their parents. Four of these patients had a clinical diagnosis of Ohtahara Syndrome (OS) and two patients had severe non-syndromic early-onset epilepsy (NSEOE). In two OS cases, we found de novo non-synonymous mutations in the genes KCNQ2 and SCN2A. In a third OS case, WGS revealed paternal isodisomy for chromosome 9, leading to identification of the causal homozygous missense variant in KCNT1, which produced a substantial increase in potassium channel current. The fourth OS patient had a recessive mutation in PIGQ that led to exon skipping and defective glycophosphatidyl inositol biosynthesis. The two patients with NSEOE had likely pathogenic de novo mutations in CBL and CSNK1G1, respectively. Mutations in these genes were not found among 500 additional individuals with epilepsy. This work reveals two novel genes for OS, KCNT1 and PIGQ. It also uncovers unexpected genetic mechanisms and emphasizes the power of WGS as a clinical tool for making molecular diagnoses, particularly for highly heterogeneous disorders. PMID:24463883

Martin, Hilary C; Kim, Grace E; Pagnamenta, Alistair T; Murakami, Yoshiko; Carvill, Gemma L; Meyer, Esther; Copley, Richard R; Rimmer, Andrew; Barcia, Giulia; Fleming, Matthew R; Kronengold, Jack; Brown, Maile R; Hudspith, Karl A; Broxholme, John; Kanapin, Alexander; Cazier, Jean-Baptiste; Kinoshita, Taroh; Nabbout, Rima; Bentley, David; McVean, Gil; Heavin, Sinéad; Zaiwalla, Zenobia; McShane, Tony; Mefford, Heather C; Shears, Deborah; Stewart, Helen; Kurian, Manju A; Scheffer, Ingrid E; Blair, Edward; Donnelly, Peter; Kaczmarek, Leonard K; Taylor, Jenny C

2014-06-15

346

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis  

PubMed Central

In severe early-onset epilepsy, precise clinical and molecular genetic diagnosis is complex, as many metabolic and electro-physiological processes have been implicated in disease causation. The clinical phenotypes share many features such as complex seizure types and developmental delay. Molecular diagnosis has historically been confined to sequential testing of candidate genes known to be associated with specific sub-phenotypes, but the diagnostic yield of this approach can be low. We conducted whole-genome sequencing (WGS) on six patients with severe early-onset epilepsy who had previously been refractory to molecular diagnosis, and their parents. Four of these patients had a clinical diagnosis of Ohtahara Syndrome (OS) and two patients had severe non-syndromic early-onset epilepsy (NSEOE). In two OS cases, we found de novo non-synonymous mutations in the genes KCNQ2 and SCN2A. In a third OS case, WGS revealed paternal isodisomy for chromosome 9, leading to identification of the causal homozygous missense variant in KCNT1, which produced a substantial increase in potassium channel current. The fourth OS patient had a recessive mutation in PIGQ that led to exon skipping and defective glycophosphatidyl inositol biosynthesis. The two patients with NSEOE had likely pathogenic de novo mutations in CBL and CSNK1G1, respectively. Mutations in these genes were not found among 500 additional individuals with epilepsy. This work reveals two novel genes for OS, KCNT1 and PIGQ. It also uncovers unexpected genetic mechanisms and emphasizes the power of WGS as a clinical tool for making molecular diagnoses, particularly for highly heterogeneous disorders.

Martin, Hilary C.; Kim, Grace E.; Pagnamenta, Alistair T.; Murakami, Yoshiko; Carvill, Gemma L.; Meyer, Esther; Copley, Richard R.; Rimmer, Andrew; Barcia, Giulia; Fleming, Matthew R.; Kronengold, Jack; Brown, Maile R.; Hudspith, Karl A.; Broxholme, John; Kanapin, Alexander; Cazier, Jean-Baptiste; Kinoshita, Taroh; Nabbout, Rima; Bentley, David; McVean, Gil; Heavin, Sinead; Zaiwalla, Zenobia; McShane, Tony; Mefford, Heather C.; Shears, Deborah; Stewart, Helen; Kurian, Manju A.; Scheffer, Ingrid E.; Blair, Edward; Donnelly, Peter; Kaczmarek, Leonard K.; Taylor, Jenny C.

2014-01-01

347

Diagnostic Utility of Neutrophil CD64 as a Marker for Early-Onset Sepsis in Preterm Neonates  

PubMed Central

Introduction Neutrophil CD64 has been proposed as an early marker of sepsis. This study aims to evaluate the diagnostic utility of neutrophil CD64 for identification of early-onset sepsis in preterm neonates. Methods The prospective study was conducted in a neonatal intensive care unit between November 2010 and June 2011. Preterm neonates in whom infection was suspected when they were <12 hours of age were enrolled. Complete blood count with differential, blood culture, neutrophil CD11b and CD64 measurement were performed. Receiver operating characteristic curve analysis was performed to evaluate the performance of neutrophil CD64 as biomarker of sepsis. Results A total of 158 preterm neonates was enrolled, 88 of whom were suspected infection. The suspected sepsis group was of lesser gestational age (P<0.001) and lower birth weight (P<0.001), compared with controls. The hematologic profiles of the suspected sepsis group were characterized by higher white blood cell count, neutrophil counts and C-reactive protein. The suspected sepsis neonates had significantly higher neutrophil CD64 expression compared with controls. Neutrophil CD64 had an area value under the curve of 0.869 with an optimal cutoff values of 1010 phycoerythrin molecules bound/cell and it had a high sensitivity (81.82%) and negative predictive value (77.4%). The level of neutrophil CD64 was independent of antibiotic therapy within 24 hours after the onset of sepsis in preterm neonates. Conclusions Neutrophil CD64 is a highly sensitive marker for suspected early-onset sepsis in preterm neonates. Our study suggests that neutrophil CD64 may be incorporated as a valuable marker to diagnose infection.

Dou, Yuhong; Li, Peipei; Chen, Rui; Liu, Helu

2014-01-01

348

Basal low antioxidant capacity correlates with cognitive deficits in early onset psychosis. A 2-year follow-up study.  

PubMed

The objective of the study is to examine the association of baseline total antioxidant status (TAS) and glutathione (GSH) levels with short- and long-term cognitive functioning in patients with early onset first-episode psychosis, comparing affective and non-affective psychoses. We analysed 105 patients with an early onset-first episode psychosis (age 9-17 years) and 97 healthy controls. Blood samples were taken at admission for measurement of TAS and GSH, and cognitive performance was assessed at baseline and at 2years of follow-up. Regression analysis was used to assess the relationship between TAS/GSH levels at baseline and cognitive performance at both time points, controlling for confounders. Baseline TAS and GSH levels were significantly lower in patients than healthy controls. In patients, baseline TAS was positively associated with the global cognition score at baseline (p=0.048) and two years later (p=0.005), while TAS was not associated with cognitive functioning in healthy controls. Further, baseline TAS in patients was specifically associated with the memory domain at baseline and with the memory and attention domains two years later. Stratifying by affective and non-affective psychoses, significant associations were only found between TAS and cognition in the non-affective psychosis group. Baseline GSH levels were not associated with cognitive functioning at either time point in either group. The antioxidant defence capacity in early onset first-episode psychotic patients is directly correlated with global cognition at baseline and at 2years of follow-up, especially in non-affective psychosis. PMID:24768133

Martínez-Cengotitabengoa, Mónica; Micó, Juan Antonio; Arango, Celso; Castro-Fornieles, Josefina; Graell, Montserrat; Payá, Beatriz; Leza, Juan Carlos; Zorrilla, Iñaki; Parellada, Mara; López, M Purificación; Baeza, Inmaculada; Moreno, Carmen; Rapado-Castro, Marta; González-Pinto, Ana

2014-06-01

349

Childhood Ataxia with Cerebral Hypomyelination Syndrome: a Variant of Patient with Early Childhood Onset Related to EIF2B3 Mutation. A Case Report.  

PubMed

Childhood ataxia with central nervous system hypomyelination (CACH) syndrome is an autosomal recessive transmitted leukodystrophy characterised by early childhood onset and acute deterioration following febrile illnesses or head trauma. We describe the case of a child with early onset of CACH syndrome. He presented with cerebellar ataxia beginning around two years of age with mild mental retardation. MRI showed diffuse white matter signal changes with thinning of the corpus callosum. PMID:24028880

Perfetto, F; Stoppino, L P; Calì, A; Milillo, P; Grilli, G; Vinci, R; Macarini, L

2012-03-01

350

Prevalence of pathogenetic MC4R mutations in Italian children with early Onset obesity, tall stature and familial history of obesity  

Microsoft Academic Search

BACKGROUND: Melanocortin-4-receptor (MC4R) mutations represent the most frequent genetic cause of non-syndromic early onset obesity. Children carrying MC4R mutations seem to show a particular phenotype characterized by early onset, severe obesity and high stature. To verify whether MC4R mutations are associated with this particular phenotype in the Italian pediatric population, we decided to screen the MC4R gene in a group

Nicola Santoro; Grazia Cirillo; Zhimin Xiang; Rita Tanas; Nella Greggio; Giuseppe Morino; Lorenzo Iughetti; Alessandra Vottero; Alessandro Salvatoni; Mario Di Pietro; Antonio Balsamo; Antonino Crinò; Anna Grandone; Carrie Haskell-Luevano; Laura Perrone; Emanuele del Giudice

2009-01-01

351

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

352

Attention deficit hyperactivity disorder in adults—early vs. late onset in a retrospective study  

Microsoft Academic Search

Attention deficit hyperactivity disorder (ADHD) is a severe and often debilitating mental disorder, which begins in childhood and can persist into adulthood. Both major classificatory systems, ICD-10 and DSM-IV, include the age-of-onset criterion (AOC) requiring clinically relevant symptoms before the age of 7 years. In clinical practice, particularly in adult psychiatry, it is often difficult to establish this AOC when

Bernd Hesslinger; Ludger Tebartz van Elst; Frank Mochan; Dieter Ebert

2003-01-01

353

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

354

Early disease onset and increased risk of other autoimmune diseases in familial generalized vitiligo.  

PubMed

Generalized vitiligo is an autoimmune disorder in which acquired white patches of skin and overlying hair result from autoimmune loss of melanocytes from involved areas. Although usually sporadic, family clustering of vitiligo may occur, in a non-Mendelian pattern typical of multifactorial, polygenic inheritance. Sporadic vitiligo is associated with autoimmune thyroid disease, pernicious anemia, Addison's disease, and lupus; these same disorders occur at increased frequency in patients' first-degree relatives. Here, we studied 133 'multiplex' generalized vitiligo families, with multiple affected family members. The age of onset of vitiligo is earlier in these 'multiplex' families than in patients with sporadic vitiligo. Affected members of the multiplex vitiligo families have elevated frequencies of autoimmune thyroid disease, rheumatoid arthritis, psoriasis, adult-onset insulin-dependent diabetes mellitus, pernicious anemia, and Addison's disease. Probands' unaffected siblings have elevated frequencies of most of these same autoimmune diseases, particularly if the proband had non-vitiligo autoimmune disease. Familial generalized vitiligo is thus characterized by earlier disease onset and a broader repertoire of associated autoimmune diseases than sporadic vitiligo. This mostly likely reflects a greater inherited genetic component of autoimmune susceptibility in these families. These findings have important implications for autoimmune disease surveillance in families in which multiple members are affected with vitiligo. PMID:16029422

Laberge, Greggory; Mailloux, Christina M; Gowan, Katherine; Holland, Paulene; Bennett, Dorothy C; Fain, Pamela R; Spritz, Richard A

2005-08-01

355

Suggested early onset of true action of antidepressant drugs may be artefactual: a heuristic study.  

PubMed

In recent decades, there have been many studies reporting that antidepressants have a rapid onset of action, with improvement occurring in the first week. The current pilot study questions whether such findings reflect an artefact emerging from high rates of 'nonspecific' improvement and evaluates the phenomenon in a small sample of melancholic patients seemingly lacking nonspecific improvement propensities. Twenty-nine patients with a well-defined melancholic depression completed a 12-week treatment study comparing drug therapy versus cognitive behaviour therapy. The primary outcome measure was the Hamilton Rating Scale for Depression, and a self-report measure of depressed mood severity (the Daily Rating Scale) was completed daily. Analyses seeking time till onset of action were limited to those receiving drug therapies. The lack of improvement in the first 4 weeks for those receiving cognitive behaviour therapy argued for the melancholic patients lacking the capacity for a nonspecific response to therapy. Formal 12-week responder status in those receiving the antidepressant could not be predicted from improvement status until day 12 of the study, and not in the first week as reported in most previous studies of those with major depression. This pilot study argues for any study seeking to quantify the specific interval for onset of action of antidepressant drugs focusing on only those with well-defined melancholia. PMID:23232755

Parker, Gordon; Paterson, Amelia; Blanch, Bianca

2013-01-01

356

Disproportionate pulmonary hypertension in a patient with early-onset pulmonary emphysema treated with specific drugs for pulmonary arterial hypertension.  

PubMed

Severe pulmonary hypertension in chronic obstructive pulmonary disease (COPD) is referred to as 'disproportionate' because the elevated pulmonary artery pressure does not match the degree of air flow limitation. We report a 41-year-old man presenting with early-onset pulmonary emphysema and pulmonary hypertension with a mean pressure of 74 mmHg. Continuous intravenous epoprostenol led to marked hemodynamic improvement, and epoprostenol was successfully replaced with bosentan. The patient has been followed for 3 years without exacerbation. This is the first report demonstrating the long-term efficacy of specific drugs for pulmonary arterial hypertension in disproportionate pulmonary hypertension in COPD. PMID:22001462

Shimizu, Masatoshi; Imanishi, Junichi; Takano, Takatsugu; Miwa, Yoichi

2011-01-01

357

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

358

Association Analyses of Variants in the DIO2 Gene with Early-Onset Type 2 Diabetes Mellitus in Pima Indians  

PubMed Central

Background The type 2 deiodinase gene (DIO2) encodes a deiodinase that converts the thyroid prohormone, thyroxine, to the biologically active triiodothyronine. Thyroid hormones regulate energy balance and may also influence glucose metabolism. Therefore, we hypothesized that variations in DIO2 could contribute to obesity or type 2 diabetes mellitus (T2DM) in Pima Indians. Methods Sequencing of the DIO2 gene in DNA from 83 Pima Indians identified 12 single-nucleotide polymorphisms (SNPs). Several of these SNPs were in perfect genotypic concordance among the 83 samples that were sequenced, and all 12 could be divided into five linkage disequilibrium groups. One representative SNP from each group (Thr92Ala, rs225011, rs225015, rs6574549, and a rare 5? flanking SNP) was selected for further genotyping for association analyses. In this study, the five selected variants in DIO2, as described above, were genotyped in three groups of Pima Indians: (i) a case (n=150)/control (n=150) group for early-onset T2DM (onset age <25 years); (ii) a case (n=362)/control (n=127) group for obesity; (iii) a large (n=1,311, cases n=810/controls n=501) family-based group, of which 256 nondiabetic subjects had undergone detailed metabolic phenotyping. Results The Thr92Ala variant common in Pima Indians, rs225011, and rs225015 were modestly associated with early-onset T2DM (p=0.01–0.04) in the case–control study, but were not associated with obesity in the obesity case–control study, nor associated with T2DM (at any age) or body–mass index (BMI; as a quantitative trait) in the family-based analysis. Thr92Ala, rs225011, rs225015, and rs6574549 were also nominally associated with hepatic glucose output (p=0.02). rs6574549 was associated with fasting insulin (p=0.02), insulin action (p=0.04), and energy expenditure (p=0.02). None of these nominal associations remained statistically significant after corrections for multiple testing. Conclusions We propose that variation in DIO2 may have a subtle role in altering metabolic processes that lead to early-onset T2DM, but this gene does not have a large impact on T2DM at older ages, nor does DIO2 influence BMI in the Pima Indian population.

Muller, Yunhua Li; Ortega, Emilio; Kobes, Sayuko; Bogardus, Clifton; Baier, Leslie J.

2012-01-01

359

A novel presenilin 1 mutation (Ala275Val) as cause of early-onset familial Alzheimer disease.  

PubMed

Mutations in the presenilin 1 (PS1) gene (PSEN1) are associated with familial Alzheimer disease (FAD). Here, we report on a 50-year-old patient presenting with progressive deterioration of his short-term memory and a family history of early-onset dementia. Diagnostic workup included a neuropsychological examination, structural magnetic resonance (MR) imaging, cerebrospinal fluid (CSF) biomarkers including total tau, phosphorylated tau, and A?42 levels, as well as sequencing relevant fragments of the genes PSEN1, PSEN2, and APP. Additionally, we were able to obtain archival paraffin-embedded cerebellar tissue from the patient's father for cosegregation analysis. Clinical, neuropsychological and MR imaging data were indicative of early-onset Alzheimer disease. Furthermore, CSF biomarkers showed a typical pattern for Alzheimer disease. DNA sequencing revealed a heterozygous nucleotide transition (c.824C>T) in exon 8 of PSEN1, leading to an amino acid change from alanine to valine at codon 275 (Ala275Val). The same mutation was found in an archival brain specimen of the patient's demented father, but not in a blood sample of the non-demented mother. This mutation alters a conserved residue in the large hydrophilic loop of PS1, suggesting pathogenic relevance. Cosegregegation analysis and the structural as well as the presumed functional role of the mutated and highly conserved residue suggest FAD causing characteristics of the novel PSEN1 mutation Ala275Val. PMID:24582897

Luedecke, Daniel; Becktepe, Jos S; Lehmbeck, Jan T; Finckh, Ulrich; Yamamoto, Raina; Jahn, Holger; Boelmans, Kai

2014-04-30

360

Detection of Fetomaternal Genotype Associations in Early-Onset Disorders: Evaluation of Different Methods and Their Application to Childhood Leukemia  

PubMed Central

Several designs and analytical approaches have been proposed to dissect offspring from maternal genetic contributions to early-onset diseases. However, lack of parental controls halts the direct verification of the assumption of mating symmetry (MS) required to assess maternally-mediated effects. In this study, we used simulations to investigate the performance of existing methods under mating asymmetry (MA) when parents of controls are missing. Our results show that the log-linear, likelihood-based framework using a case-triad/case-control hybrid design provides valid tests for maternal genetic effects even under MA. Using this approach, we examined fetomaternal associations between 29 SNPs in 12 cell-cycle genes and childhood pre-B acute lymphoblastic leukemia (ALL). We identified putative fetomaternal effects at loci CDKN2A rs36228834 (P = .017) and CDKN2B rs36229158 (P = .022) that modulate the risk of childhood ALL. These data further corroborate the importance of the mother's genotype on the susceptibility to early-onset diseases.

Healy, Jasmine; Bourgey, Mathieu; Richer, Chantal; Sinnett, Daniel; Roy-Gagnon, Marie-Helene

2010-01-01

361

The prevalence of BRCA1 mutations in Chinese patients with early onset breast cancer and affected relatives  

PubMed Central

The purpose of this study was to determine the prevalence of BRCA1 mutations in Chinese breast cancer patients in Singapore. BRCA1 analysis was conducted in consecutive patients with breast cancer before the age of 40 years (76 women), or whose relatives had breast or ovarian cancer (16 women). Ten patients had both early onset breast cancer and affected relatives. Genomic DNA from peripheral mononuclear blood cells was studied by using the protein transcription–translation assay (exon 11) and single-strand conformational polymorphism, with subsequent DNA sequencing. All six disease-causing mutations occurred in women under 40 years (8.6%) with three occurring in patients under 35 years (three out of 22 patients, 13.6%). Mis-sense mutations of unknown significance were found in three patients. Two of the ten women with affected relatives under 40 years had BRCA1 mutations. The prevalence of BRCA1 mutations in Chinese patients with early onset breast cancer is similar to that observed in Caucasian women. Most Chinese patients with affected relatives were not carriers of BRCA1 mutations. © 2000 Cancer Research Campaign

Sng, J-H; Chang, J; Feroze, F; Rahman, N; Tan, W; Lim, S; Lehnert, M; Pool, S van der; Wong, J

2000-01-01

362

Intensity-dependent constitutional MLH1 promoter methylation leads to early onset of colorectal cancer by affecting both alleles.  

PubMed

Constitutional epimutation is one of the causes for MLH1 gene inactivation associated with hereditary non-polyposis colon cancer (HNPCC) syndrome. Here we investigate MLH1 promoter hypermethylation in 110 sporadic early-onset colorectal cancer patients. Variable levels of hypermethylation were detected in 55 patients (50%). Importantly a reduced MLH1 gene expression was found in patients with high-level methylation, with the association of microsatellite instability (MSI) in their tumor cells. Such high-level methylation accounts for 7.4% of all patients included in this study. Furthermore, we found that in one case constitutional methylation affected both alleles, indicating a post-zygotic methylation dysregulation. Our findings suggest that constitutional epimutation is a mechanism underlying early-onset colorectal cancer, although it is involved in only a small proportion of patients, who require appropriate surveillance. Our findings provide further insight into the role of aberrant constitutional methylation in colon carcinogenesis and raise the question of whether prevalent low-level methylation constitutes a potential risk factor for cancer development. PMID:21213371

Auclair, Jessie; Vaissière, Thomas; Desseigne, Françoise; Lasset, Christine; Bonadona, Valérie; Giraud, Sophie; Saurin, Jean-Christophe; Joly, Marie-Odile; Leroux, Dominique; Faivre, Laurence; Audoynaud, Carole; Montmain, Gilles; Ruano, Eric; Herceg, Zdenko; Puisieux, Alain; Wang, Qing

2011-03-01

363

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

2012-10-01

364

Increased oxidized low-density lipoprotein causes blood-brain barrier disruption in early-onset preeclampsia through LOX-1  

PubMed Central

Early-onset preeclampsia (EPE) is a severe form of preeclampsia that involves life-threatening neurological complications. However, the underlying mechanism by which EPE affects the maternal brain is not known. We hypothesized that plasma from women with EPE increases blood-brain barrier (BBB) permeability vs. plasma from women with late-onset preeclampsia (LPE) or normal pregnancy (NP) and investigated its underlying mechanism by perfusing cerebral veins from nonpregnant rats (n=6–7/group) with human plasma from women with EPE, LPE, or NP and measuring permeability. We show that plasma from women with EPE significantly increased BBB permeability vs. plasma from women with LPE or NP (P<0.001). BBB disruption in response to EPE plasma was due to a 260% increase of circulating oxidized LDL (oxLDL) binding to its receptor, LOX-1, and subsequent generation of peroxynitrite (P<0.001). A rat model with pathologically high lipid levels in pregnancy showed symptoms of preeclampsia, including elevated blood pressure, growth-restricted fetuses, and LOX-1-dependent BBB disruption, similar to EPE (P<0.05). Thus, we have identified LOX-1 activation by oxLDL and subsequent peroxynitrite generation as a novel mechanism by which disruption of the BBB occurs in EPE. As increased BBB permeability is a primary means by which seizure and other neurological symptoms ensue, our findings highlight oxLDL, LOX-1, and peroxynitrite as important therapeutic targets in EPE.—Schreurs, M. P. H., Hubel, C. A., Bernstein, I. M., Jeyabalan, A., and Cipolla, M. J. Increased oxidized low-density lipoprotein causes blood-brain barrier disruption in early-onset preeclampsia through LOX-1.

Schreurs, Malou P. H.; Hubel, Carl A.; Bernstein, Ira M.; Jeyabalan, Arun; Cipolla, Marilyn J.

2013-01-01

365

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

366

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

367

Long-term outcomes of early-onset wheeze and asthma  

PubMed Central

Evidence from longitudinal cohort studies demonstrates that wheezing which begins in early life and continues into the school age years generally persists into adulthood. This persistent wheezing is associated with lung function deficits and airways hyperresponsiveness that appear to be established in the first few years of life. Allergic sensitization early in life, early life infection with rhinovirus, or colonization with any of a number of bacteria have been associated with increased risk of persistent wheeze. Early life, whether in utero or in the first few years of life, presents a window of vulnerability during which airway injury results in persistent airways dysfunction. Available data futher suggest that a second such window of vulnerability may be present in the preadolescent and adolescent years. Lung function growth patterns established by age 6 generally continue into early to mid-adulthood, typically leaving groups of individuals with wheezing that persists into or relapses in adulthood with mean FEV1 about 10% predicted lower than their peers who do not wheeze. Subgroups of patients with persistent asthma, however, may have progressive declines in lung function, and enter adulthood with even lower lung function. The concern exists that these deficits in lung function apparent in early adulthood may put individuals at risk for the later development of chronic obstructive pulmonary disease.

Grad, Roni; Morgan, Wayne J

2012-01-01

368

The Lambeth Early Onset (LEO) Team: randomised controlled trial of the effectiveness of specialised care for early psychosis  

Microsoft Academic Search

Objective To evaluate the effectiveness of a service for early psychosis. Design Randomised controlled clinical trial. Setting Community mental health teams in one London borough. Participants 144 people aged 16-40 years presenting to mental health services for the first or second time with non-organic, non-affective psychosis. Interventions Assertive outreach with evidence based biopsychosocial interventions (specialised care group) and standard care

Tom K J Craig; Philippa Garety; Paddy Power; Nikola Rahaman; Susannah Colbert; Miriam Fornells-Ambrojo; Graham Dunn

2004-01-01

369

Early-onset psychoses: comparison of clinical features and adult outcome in 3 diagnostic groups.  

PubMed

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 3-year follow-up in all 41, and at least after 5 years in 36 patients. Symptoms were rated on the basis of the Positive and Negative Syndrome Scale (PANSS), integrating items from the Brief Psychiatric Rating Scale (BPRS) and the Kiddie Schedule for Affective Disorders and Schizophrenia for School-Age Children-Present and Lifetime Version (K-SADS-PL). The Children Global Assessment Scale (C-GAS) and the Global Assessment Scale (GAF) were used to evaluate global functioning. Significant differences in clinical features were found in the three diagnostic groups as regards several parameters, some present on one and not on other rating scales, underscoring the insufficiency of a single scale for accurate analysis of the features of a psychotic disorder. At onset, a comparison using the simple presence/absence of symptoms showed scant differences among groups, while differences emerged if symptom severity was included in the comparison. Functioning at 3- and 5-year follow-ups showed a significantly better outcome in the BPP group and more substantial deterioration, with similar evolution, in the SPh and SA groups. The integration of several rating scales differentiated between diagnostic groups more effectively. The similar adult functioning outcome in the SPh and SA groups showed how difficult it is to clearly separate these two disorders. PMID:19280338

Ledda, Maria Giuseppina; Fratta, Anna Lisa; Pintor, Manuela; Zuddas, Alessandro; Cianchetti, Carlo

2009-09-01

370

T2 Relaxometry Using 3.0-Tesla Magnetic Resonance Imaging of the Brain in Early- and Late-Onset Restless Legs Syndrome  

PubMed Central

Background and Purpose Previous T2 relaxometry studies have provided evidence for regional brain iron deficiency in patients with restless legs syndrome (RLS). Measurement of the iron content in several brain regions, and in particular the substantia nigra (SN), in early- and late-onset RLS patients using T2 relaxometry have yielded inconsistent results. In this study the regional iron content was assessed in patients with early- and late-onset RLS using magnetic resonance imaging (MRI), and compared the results with those in controls. Methods Thirty-seven patients with idiopathic RLS (20 with early onset and 17 with late onset) and 40 control subjects were studied using a 3.0-tesla MRI with a gradient-echo sampling of free induction decay and echo pulse sequence. The regions of interest in the brain were measured independently by two trained analysts using software known as medical image processing, analysis, and visualization. The results were compared and a correlation analysis was conducted to investigate which brain areas were related to RLS clinical variables. Results The iron index in the SN was significantly lower in patients with late-onset RLS than in controls (p=0.034), while in patients with early-onset RLS there was no significant difference. There was no significant correlation between the SN iron index of the late-onset RLS group and clinical variables such as disease severity. Conclusions Late-onset RLS is associated with decreased iron content in the SN. This finding supports the hypothesis that regional brain iron deficiency plays a role in the pathophysiology of late-onset RLS.

Moon, Hye-Jin; Chang, Yongmin; Lee, Yeong Seon; Song, Hee Jin; Chang, Hyuk Won; Ku, Jeonghun

2014-01-01

371

Anterior Segment Dysgenesis and Early-Onset Glaucoma in nee Mice with Mutation of Sh3pxd2b  

PubMed Central

Purpose. Mutations in SH3PXD2B cause Frank-Ter Haar syndrome, a rare condition characterized by congenital glaucoma, as well as craniofacial, skeletal, and cardiac anomalies. The nee strain of mice carries a spontaneously arising mutation in Sh3pxd2b. The purpose of this study was to test whether nee mice develop glaucoma. Methods. Eyes of nee mutants and strain-matched controls were comparatively analyzed at multiple ages by slit lamp examination, intraocular pressure recording, and histologic analysis. Cross sections of the optic nerve were analyzed to confirm glaucomatous progression. Results. Slit lamp examination showed that, from an early age, nee mice uniformly exhibited severe iridocorneal adhesions around the entire circumference of the eye. Presumably as a consequence of aqueous humor outflow blockage, they rapidly developed multiple indices of glaucoma. By 3 to 4 months of age, they exhibited high intraocular pressure (30.8 ± 12.5 mm Hg; mean ± SD), corneal opacity, and enlarged anterior chambers. Although histologic analyses at P17 did not reveal any indices of damage, similar analysis at 3 to 4 months of age revealed a course of progressive retinal ganglion cell loss, optic nerve head excavation, and axon loss. Conclusions. Eyes of nee mice exhibit anterior segment dysgenesis and early-onset glaucoma. Because SH3PXD2B is predicted to be a podosome adaptor protein, these findings implicate podosomes in normal development of the iridocorneal angle and the genes influencing podosomes as candidates in glaucoma. Because of the early-onset, high-penetrance glaucoma, nee mice offer many potential advantages as a new mouse model of the disease.

Mao, Mao; Hedberg-Buenz, Adam; Koehn, Demelza; John, Simon W. M.

2011-01-01

372

IQCB1 and PDE6B Mutations Cause Similar Early Onset Retinal Degenerations in Two Closely Related Terrier Dog Breeds  

PubMed Central

Purpose. To identify the causative mutations in two early-onset canine retinal degenerations, crd1 and crd2, segregating in the American Staffordshire terrier and the Pit Bull Terrier breeds, respectively. Methods. Retinal morphology of crd1- and crd2-affected dogs was evaluated by light microscopy. DNA was extracted from affected and related unaffected controls. Association analysis was undertaken using the Illumina Canine SNP array and PLINK (crd1 study), or the Affymetrix Version 2 Canine array, the “MAGIC” genotype algorithm, and Fisher's Exact test for association (crd2 study). Positional candidate genes were evaluated for each disease. Results. Structural photoreceptor abnormalities were observed in crd1-affected dogs as young as 11-weeks old. Rod and cone inner segment (IS) and outer segments (OS) were abnormal in size, shape, and number. In crd2-affected dogs, rod and cone IS and OS were abnormal as early as 3 weeks of age, progressing with age to severe loss of the OS, and thinning of the outer nuclear layer (ONL) by 12 weeks of age. Genome-wide association study (GWAS) identified association at the telomeric end of CFA3 in crd1-affected dogs and on CFA33 in crd2-affected dogs. Candidate gene evaluation identified a three bases deletion in exon 21 of PDE6B in crd1-affected dogs, and a cytosine insertion in exon 10 of IQCB1 in crd2-affected dogs. Conclusions. Identification of the mutations responsible for these two early-onset retinal degenerations provides new large animal models for comparative disease studies and evaluation of potential therapeutic approaches for the homologous human diseases.

Goldstein, Orly; Mezey, Jason G.; Schweitzer, Peter A.; Boyko, Adam R.; Gao, Chuan; Bustamante, Carlos D.; Jordan, Julie Ann; Aguirre, Gustavo D.; Acland, Gregory M.

2013-01-01

373

Regenerative periodontal therapy.  

PubMed

The goal of regenerative periodontal therapy is to completely restore the tooth's supporting apparatus that has been lost due to inflammatory periodontal disease or injury. It is characterized by formation of new cementum with inserting collagen fibers, new periodontal ligament, and new alveolar bone. Indeed conventional, nonsurgical, and surgical periodontal therapy usually result in clinical improvements evidenced by probing depth reduction and clinical attachment gain, but the healing occurs predominantly through formation of a long junctional epithelium and no or only unpredictable periodontal regeneration. Therefore, there is an ongoing search for new materials and improved surgical techniques, with the aim of predictably promoting periodontal wound healing/regeneration and improving the clinical outcome. This article attempts to provide the clinician with an overview of the most important biologic events involved in periodontal wound healing/ regeneration and on the criteria on how to select the appropriate regenerative material and surgical technique in order to optimize the clinical outcomes. PMID:24570985

Hägi, Tobias T; Laugisch, Oliver; Ivanovic, Aleksandar; Sculean, Anton

2014-03-01

374

Linkage of Early-Onset Familial Breast Cancer to Chromosome 17q21  

Microsoft Academic Search

Human breast cancer is usually caused by genetic alterations of somatic cells of the breast, but occasionally, susceptibility to the disease is inherited. Mapping the genes responsible for inherited breast cancer may also allow the identification of early lesions that are critical for the development of breast cancer in the general population. Chromosome 17q21 appears to be the locale of

Jeff M. Hall; Ming K. Lee; Beth Newman; Jan E. Morrow; Lee A. Anderson; Bing Huey; Mary-Claire King

1990-01-01

375

Early-onset cannabis use and cognitive deficits: what is the nature of the association?  

Microsoft Academic Search

Background: Individuals who initiate cannabis use at an early age, when the brain is still developing, might be more vulnerable to lasting neuropsychological deficits than individuals who begin use later in life. Methods: We analyzed neuropsychological test results from 122 long-term heavy cannabis users and 87 comparison subjects with minimal cannabis exposure, all of whom had undergone a 28-day period

Harrison G Pope; Amanda J Gruber; James I Hudson; Geoffrey Cohane; Marilyn A Huestis; Deborah Yurgelun-Todd

2003-01-01

376

Optimizing Treatment of Intra-amniotic Infection and Early-Onset Postpartum Endometritis: Advantages of Single-Agent Therapy  

PubMed Central

Introduction: Intra-amniotic infection (IAI) and early-onset postpartum endometritis (PPE) require prompt antibiotic treatment and are generally treated by either of two regimens. A complicated multi-agent regimen is most commonly used, despite a lack of clear evidence that it produces better outcomes than a simpler single-agent regimen. Objective: We compared treatment outcomes between a multi-agent regimen of ampicillin, gentamicin, and clindamycin versus a single-agent regimen of ampicillin/sulbactam for IAI and early-onset PPE. Methods: We conducted an observational retrospective cohort study by collecting data from the records of all patients at Denver Health Medical Center treated for IAI or PPE during two 6-month periods: a baseline period during which a regimen of ampicillin, gentamicin, and clindamycin was used and a subsequent period when ampicillin/sulbactam was used. Primary outcomes were prolonged antibiotic treatment and readmission for endometritis or wound cellulitis. Results: Of potential study participants, 323 women met inclusion criteria; 179 were treated with the multi-agent regimen and 144 were treated with the single-agent regimen. The groups were statistically similar for demographic and intrapartum characteristics, except for a lower rate of premature rupture of membranes in the single-agent treatment group. Twelve patients required prolonged treatment, and 2 were readmitted; these subgroups were combined for statistical analyses. The primary outcomes were significantly associated with cesarean delivery and blood loss >500 mL for vaginal deliveries and >1000 mL for cesarean deliveries; however, there was no significant difference in the incidence of the primary outcomes between the 2 treatment groups when adjusted for these variables. Treatment with ampicillin/sulbactam resulted in fewer antibiotic doses administered to patients with an uncomplicated treatment course. Conclusion: Ampicillin/sulbactam treatment of IAI and early-onset PPE reduces the number of antibiotic doses administered and results in patient outcomes similar to those for the standard multi-agent therapy of ampicillin, gentamicin, and clindamycin.

Stiglich, Norma; Alston, Meredith; vanSwam, Simone

2011-01-01

377

Risk Factors for Early-Onset Peripheral Neuropathy Caused by Vincristine in Patients With a First Administration of R-CHOP or R-CHOP-Like Chemotherapy  

PubMed Central

Background Peripheral neuropathy is a well-known side effect of vincristine (VCR), a microtubule inhibitor used for R-CHOP or R-CHOP-like (namely R-CVP and R-THP-COP) regimens. Previous studies have shown that both the total dose of VCR and the number of treatment cycles are related to the incidence of VCR-induced peripheral neuropathy (VIPN). However, VIPN will also occur during the first treatment cycle regardless of the total dose of VCR or number of treatment cycles (early-onset VIPN). There is little information about early-onset VIPN, and it is difficult to predict. The present study’s goal was to identify risk factors for early-onset VIPN. Methods We analyzed the case records of patients who had their first administration of an R-CHOP or R-CHOP-like regimen between April 2008 and August 2013 at Tokushima University Hospital in Tokushima, Japan. To identify the risk factors for early-onset VIPN, we performed univariate and multivariate logistic regression analyses. Results Forty-one patients underwent an R-CHOP or R-CHOP-like regimen for the first time at Tokushima University Hospital between April 2008 and August 2013, and 14 patients had grade 1 or higher early-onset VIPN. A univariate analysis revealed that age, the dose of VCR and the concomitant use of aprepitant appeared to be the risk factors of early-onset VIPN. In our calculation using receiver-operator characteristics curves, the cut-off value for patient age was 65 years and that of the dose of VCR was 1.9 mg. A multivariate analysis revealed that VCR dose ? 1.9 mg and the concomitant use of the antiemetic aprepitant were independent risk factors for early-onset VIPN. Conclusions Our present study showed that the patients who had VCR dose ? 1.9 mg and the concomitant use of aprepitant had the risk for early-onset VIPN. This suggests that it is important to use aprepitant in light of the risk of early-onset VIPN and the benefit of aprepitant’s antiemetic effect in R-CHOP and R-CHOP-like regimens.

Okada, Naoto; Hanafusa, Takeshi; Sakurada, Takumi; Teraoka, Kazuhiko; Kujime, Toshihide; Abe, Masahiro; Shinohara, Yasuo; Kawazoe, Kazuyoshi; Minakuchi, Kazuo

2014-01-01

378

Very early-onset peritoneal recurrence following curative total gastrectomy for Borrmann 4 gastric cancer  

PubMed Central

Peritoneal dissemination is one of the treatment failures following gastric cancer surgery. We present a case with very early peritoneal recurrence, detected 8 days following curative surgery. A 39-year-old man, with Borrmann-4 advanced gastric cancer with signet ring cell type, underwent curative open total gastrectomy. However, focal peritoneal nodules on the left side of the diaphragmatic surface, which did not exist at the initial operation, were incidentally found during the reoperation for a postoperative intestinal obstruction via a laparoscopic approach. The pathologic result of the biopsied nodule revealed signet ring cell carcinoma. The patient underwent combination chemotherapy for several months without tumor regression. He suffered from intestinal obstruction again due to carcinomatosis peritonei, and died 9 months following initial surgery. Through this case report, we can carefully suspect that very early progression of cancer cells to carcinomatosis can occur in just several days after an operation.

Kim, Dong Jin; Lee, Jun Hyun

2014-01-01

379

A pilot genome-wide association study of early-onset breast cancer  

Microsoft Academic Search

High-density oligonucleotide microarrays containing a large number of single nucleotide polymorphisms (SNPs) have enabled\\u000a genome-wide association (GWA) analysis to become a reality. We used the early access Affymetrix Mendel Nsp 250K chips in a\\u000a GWA case–control pilot study to identify genomic regions associated with breast cancer. We included 30 randomly sampled incident\\u000a invasive breast cancer cases aged <45 years without deleterious

Muhammad G. Kibriya; Farzana Jasmine; Maria Argos; Irene L. Andrulis; Esther M. John; Jenny Chang-Claude; Habibul Ahsan

2009-01-01

380

Endothelial Cell Whole Genome Expression Analysis in a Mouse Model of Early-Onset Fuchs' Endothelial Corneal Dystrophy  

PubMed Central

Purpose. To investigate the endothelial gene expression profile in a Col8a2 Q455K mutant knock-in mouse model of early-onset Fuchs' endothelial corneal dystrophy (FECD) and identify potential targets that can be correlated to human late-onset FECD. Methods. Diseased or normal endothelial phenotypes were verified in 12-month-old homozygous Col8a2Q455K/Q455K mutant and wild-type mice by clinical confocal microscopy. An endothelial whole genome expression profile was generated by microarray-based analysis. Result validation was performed by real-time PCR. Endothelial COX2 and JUN expression was further studied in human late-onset FECD compared to normal samples. Results. Microarray analysis demonstrated endothelial expression of 24,538 genes (162 up-regulated and 172 down-regulated targets) and identified affected gene ontology terms including Response to Stress, Protein Metabolic Process, Protein Folding, Regulation of Apoptosis, and Transporter Activity. Real-time PCR assessment confirmed increased Cox2 (P = 0.001) and Jun mRNA (P = 0.03) levels in Col8a2Q455K/Q455K mutant compared to wild-type mice. In human FECD samples, real-time PCR demonstrated a statistically significant increase in COX2 mRNA (P < 0.0001) and JUN mRNA (P = 0.002) and tissue microarray analysis showed increased endothelial COX2 (P = 0.02) and JUN protein (P = 0.04). Conclusions. The present study provides the first endothelial whole genome expression analysis in an animal model of FECD and represents a useful resource for future studies of the disease. In particular endothelial COX2 up-regulation warrants further investigation of its role in FECD.

Matthaei, Mario; Hu, Jianfei; Meng, Huan; Lackner, Eva-Maria; Eberhart, Charles G.; Qian, Jiang; Hao, Haiping; Jun, Albert S.

2013-01-01

381

A case of early-onset and monophasic trigeminal autonomic cephalalgia: could it be a SUNCT?  

PubMed

A 2-year-old female came to the Neurological Emergency Room of "Giovanni XXIII" Hospital in Bari, 6 h after the onset of severe facial pain, which occurred soon after awakening. Stabbing pain affected the right frontal and periorbital area, with ipsilateral conjunctival injection, swelling of the eyelids and tearing. Except the duration, from 5 to 30 s., the attacks were stereotyped including the occurrence and features of autonomic signs. Based on the typical clinical findings and the normal magnetic resonance imaging (MRI), we diagnosed short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing syndrome (SUNCT). The spontaneous remission within a few hours made prophylactic therapy unnecessary. At the last follow-up, after 3 months, the patient was still symptom free. In our case, after an active period lasting 2 days the disease disappeared completely. However the typical features of the disease (unilateral pain, short duration and high frequency of the attacks, autonomic signs ipsilateral to pain, numbers of attacks) were all present. While the diagnostic criteria of the International Headache Society classification for SUNCT did not include the duration of disease, it is likely that the active period lasting 2 days could be an expression of the clinical variability of the disease. PMID:20473543

Sciruicchio, Vittorio; Sardaro, Michele; Gagliardi, Delio; Trabacca, Antonio; Galeone, Dante; de Tommaso, Marina

2010-08-01

382

Aberrant functional organization and maturation in early-onset psychosis: evidence from magnetoencephalography.  

PubMed

Studies of the location of somatosensory and auditory cortical responses have shown anomalous hemispheric asymmetries in a variety of neurodevelopmental disorders. To date, abnormal asymmetries in the somatosensory region have shown greater specificity, being reported only in psychotic adults. This study examines the functional organization of the somatosensory cortices using magnetoencephalography in adolescents with childhood-onset psychotic disorders. Eighteen young outpatients with history of psychotic illness and 15 healthy adolescents participated. Both groups underwent stimulation of the index finger as magnetoencephalography was acquired from the contralateral hemisphere. Neural generators of the M50 somatosensory response were modeled using an equivalent current dipole for each hemisphere, and later investigated for systematic variation with diagnosis. Consistent with adult psychosis data, adolescent patients showed hemispheric symmetry in the anterior-posterior dimension. In controls, a reversed pattern of hemispheric asymmetry was observed relative to previous findings in normal adults [Reite, M., Teale, P., Rojas, D.C., Benkers, T.L., Carlson, J., 2003. Anomalous somatosensory cortical localization in schizophrenia. American Journal of Psychiatry 160, 2148-2153], but trend-level correlations suggested source location became more adult-like during the transition from adolescence to adulthood. Source parameters also exhibited robust inter-hemispheric correlations only in adolescent controls. In sum, source locations, patterns of cerebral lateralization, and inter-hemispheric correlations all distinguish patients from their normally developing cohort. These findings suggest aberrant maturation underlies the reduction in cerebral laterality associated with psychosis. PMID:17728112

Wilson, Tony W; Rojas, Donald C; Teale, Peter D; Hernandez, Olivia O; Asherin, Ryan M; Reite, Martin L

2007-10-15

383

Aberrant functional organization and maturation in early-onset psychosis: Evidence from magnetoencephalography  

PubMed Central

Studies of the location of somatosensory and auditory cortical responses have shown anomalous hemispheric asymmetries in a variety of neurodevelopmental disorders. Although to date, abnormal asymmetries in the somatosensory region have shown greater specificity being reported only in psychotic adults. This study examines functional organization of somatosensory cortices using magnetoencephalography in adolescents with childhood-onset psychotic disorders. Eighteen young outpatients with history of psychotic illness and 15 healthy adolescents participated. Both groups underwent stimulation of the index finger as magnetoencephalography was acquired from the contralateral hemisphere. Neural generators of the M50 somatosensory response were modeled using an equivalent current dipole for each hemisphere, and later investigated for systematic variation with diagnosis. Consistent with adult psychosis data, adolescent patients showed hemispheric symmetry in the anterior-posterior dimension. In controls, a reversed pattern of hemispheric asymmetry was observed relative to previous findings in normal adults (Reite et al., 2003), but trend-level correlations suggested source location became more adult-like during transition from adolescence to adulthood. Source parameters also exhibited robust inter-hemispheric correlations only in adolescent controls. In sum, source locations, patterns of cerebral lateralization, and inter-hemispheric correlations all distinguish patients from their normally developing cohort. These findings suggest aberrant maturation underlies the reduction in cerebral laterality associated with psychosis.

Wilson, Tony W.; Rojas, Donald C.; Teale, Peter D.; Hernandez, Olivia O.; Asherin, Ryan M.; Reite, Martin L.

2007-01-01

384

Generation of isogenic pluripotent stem cells differing exclusively at two early onset Parkinson point mutations  

PubMed Central

SUMMARY Patient-specific induced pluripotent stem cells (iPSCs) derived from somatic cells provide a unique tool for the study of human disease, as well as a promising source for cell-replacement therapies. However one crucial limitation has been the inability to perform experiments under genetically defined conditions. This is particularly relevant for late age-onset disorders where in vitro phenotypes are predicted to be subtle and susceptible to significant effects of genetic background variations. By combining zinc-finger nuclease (ZFN)-mediated genome editing and iPSC technology we provide a generally applicable solution to this problem