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Sample records for early onset clinical

  1. Early-onset Coronary Artery Disease: Clinical and Hereditary Aspects

    DEFF Research Database (Denmark)

    Christiansen, Morten Krogh

    2017-01-01

    A family history of coronary artery disease (CAD) is an important risk factor for adverse coronary events, in particular if the disease has an early onset. The risk of CAD is influenced by genetic and environmental factors with a greater genetic contribution earlier in life. Through recent years...... the advances in genetic techniques has led to an increased understanding of the genetic background of CAD, which may potentially be translated into clinical use. The studies of this thesis aimed to investigate the burden of conventional risk factors and control in early-onset CAD (i.e. ... component of coronary atherosclerosis and underpin the need for risk factor optimization in early-onset CAD. Furthermore, our data support that yet identified common risk variants may have little clinical relevance in the clinical setting of early-onset CAD....

  2. Early Onset Marfan Syndrome: Atypical Clinical Presentation of Two Cases

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    Ozyurt Abdullah

    2015-06-01

    Full Text Available Early onset Marfan Syndrome (eoMFS is a rare, severe form of Marfan Syndrome (MFS. The disease has a poor prognosis and most patients present with resistance to heart failure treatment during the newborn period. This report presents two cases of eoMFS with similar clinical features diagnosed in the newborn period and who died at an early age due to the complications related to the involvement of the cardiovascular system.

  3. Clinical correlates of first episode early onset psychosis in KwaZulu ...

    African Journals Online (AJOL)

    Background: The study of first episode early onset psychosis can yield many clues to understanding the early development of psychosis and guide interventions to decrease psychosis risk and improve outcome. The aim of the study was to investigate the socio-demographic profile and clinical correlates in early onset ...

  4. Clinical features associated with an early onset in chronic tic disorders.

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    Richer, Francois; Daghfal, Roula; Rouleau, Guy A; Lespérance, Paul; Chouinard, Sylvain

    2015-12-30

    In chronic tic disorders such as Tourette syndrome (TS), tics often appear between 4 and 8 years but they can also appear in early childhood, a period in which symptom expression may be affected by early brain development. The present study examined whether symptom expression in early-onset TS was distinct from that observed in TS with a later onset. We compared the clinical characteristics in children with TS who developed tics before age 4 or after age 6. Early-onset TS was significantly associated with an increased rate of stuttering and other speech disfluencies as well as an increased rate of oppositional defiant disorder, symptoms that often appear before age 4. Early-onset TS was also linked to maternal transmission of tics. Early-onset TS was not significantly associated with tic severity, obsessive-compulsive behavior or attention-deficit hyperactivity disorder. The results suggest that an early onset affects symptom expression in tic disorders. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  5. Early-onset Alzheimer disease clinical variants: Multivariate analyses of cortical thickness

    NARCIS (Netherlands)

    Ridgway, G.R.; Lehmann, M.; Barnes, J.; Rohrer, J.D.; Warren, J.D.; Crutch, S.J.; Fox, N.C.

    2012-01-01

    Objective: To assess patterns of reduced cortical thickness in different clinically defined variants of early-onset Alzheimer disease (AD) and to explore the hypothesis that these variants span a phenotypic continuum rather than represent distinct subtypes. Methods: The case-control study included

  6. Distinctive electro-clinical features of epilepsy in severe early onset SCN8A encephalopathy

    DEFF Research Database (Denmark)

    Gardella, E.; Larsen, Jan; Wolff, M.

    2015-01-01

    Rationale: SCN8A mutations have been recently associated with early infantile epileptic encephalopathy with a broad phenotypic spectrum. We aim to further delineate the interictal and ictal video-EEG features of a peculiar clinical subgroup of patients affected by early onset SCN8A-related enceph......Rationale: SCN8A mutations have been recently associated with early infantile epileptic encephalopathy with a broad phenotypic spectrum. We aim to further delineate the interictal and ictal video-EEG features of a peculiar clinical subgroup of patients affected by early onset SCN8A....../9 patients (follow-up 10-25 months); all seizure types have been documented. Patients had both focal and generalized seizures (FS,GS), the latter consisting of GTCS, pseudo-absences, spasms and myoclonus. FS were usually prolonged (3-5 min), with prominent hypomotor and vegetative semiology, evolving...

  7. Comparison of clinical and perinatal outcomes in early- and late-onset preeclampsia.

    Science.gov (United States)

    Madazli, Riza; Yuksel, Mehmet Aytaç; Imamoglu, Metehan; Tuten, Abdullah; Oncul, Mahmut; Aydin, Burcu; Demirayak, Gokhan

    2014-07-01

    To compare the clinical and laboratory findings and maternal-perinatal outcomes between women with early-onset preeclampsia (EO-PE) and late-onset preeclampsia (LO-PE). One hundred and fifty-four women with preeclampsia (PE) who delivered in our clinic were included in the study. Perinatal and obstetric outcomes were evaluated. The incidence of abnormal uterine artery (UtA) velocity waveform was significantly higher in the EO-PE group (71.4 vs 30.1 %) (p UtA Doppler findings defines a placentation abnormality with higher perinatal adverse outcomes.

  8. Early onset type 2 diabetes

    DEFF Research Database (Denmark)

    Bo, A; Thomsen, R W; Nielsen, J S

    2018-01-01

    AIM: To examine the association between early onset of type 2 diabetes (DM) and clinical and behavioural risk factors for later diabetes complications. METHODS: We conducted a cross-sectional study of 5115 persons with incident type 2 DM enrolled during 2010-2015 in the Danish Centre for Strategic...... Research in Type 2 Diabetes-cohort. We compared risk factors at time of diagnosis among those diagnosed at ≤45 years (early-onset) with diagnosis age 46-55, 56-65 (average-onset = reference), 66-75, and >75 years (late-onset). Prevalence ratios (PRs) were computed using Poisson regression. RESULTS: Poor...... was more frequent and meeting physical activity recommendations less likely in persons with early-onset type 2 DM. CONCLUSIONS: We found a clear age-gradient, with increasing prevalence of clinical and behavioural risk factors the younger the onset age of type 2 DM. Younger persons with early-onset type 2...

  9. Early-Onset Dementia

    DEFF Research Database (Denmark)

    Konijnenberg, Elles; Fereshtehnejad, Seyed-Mohammad; Kate, Mara Ten

    2017-01-01

    BACKGROUND: Early-onset dementia (EOD) is a rare condition, with an often atypical clinical presentation, and it may therefore be challenging to diagnose. Specialized memory clinics vary in the type of patients seen, diagnostic procedures applied, and the pharmacological treatment given. The aim...... of this study was to investigate quality-of-care indicators in subjects with EOD from 3 tertiary memory clinics in 3 European countries. METHODS: We included 1325 newly diagnosed EOD patients, ages 65 years or younger, between January 1, 2007 and December 31, 2013, from the Danish Dementia Registry...... (Rigshospitalet, Copenhagen), the Swedish Dementia Registry ("SveDem", Karolinska University Hospital, Stockholm), and the Amsterdam Dementia Cohort (VU University Medical Center). RESULTS: The frequency of EOD among all dementia patients was significantly lower in Copenhagen (410, 20%) and Stockholm (284, 21...

  10. Early-Onset Bipolar Disorder: Characteristics and Outcomes in the Clinic.

    Science.gov (United States)

    Connor, Daniel F; Ford, Julian D; Pearson, Geraldine S; Scranton, Victoria L; Dusad, Asha

    2017-12-01

    To assess patient characteristics and clinician-rated outcomes for children diagnosed with early-onset bipolar disorder in comparison to a depressive disorders cohort from a single clinic site. To assess predictors of bipolar treatment response. Medical records from 714 consecutive pediatric patients evaluated and treated at an academic tertiary child and adolescent psychiatry clinic between 2006 and 2012 were reviewed. Charts of bipolar children (n = 49) and children with depressive disorders (n = 58) meeting study inclusion/exclusion criteria were compared on variables assessing clinical characteristics, treatments, and outcomes. Outcomes were assessed by using pre- and post-Clinical Global Impressions (CGI)-Severity and Children's Global Assessment Scale (CGAS) scores, and a CGI-Improvement score ≤2 at final visit determined responder status. Bipolar outcome predictors were assessed by using multiple linear regression. Clinic prevalence rates were 6.9% for early-onset bipolar disorder and 1.5% for very early-onset bipolar disorder. High rates of comorbid diagnoses, symptom severity, parental stress, and child high-risk behaviors were found in both groups. The bipolar cohort had higher rates of aggression and higher lifetime systems of care utilization. The final CGI and CGAS outcomes for unipolar depression patients differed statistically significantly from those for the bipolar cohort, reflecting better clinical status and more improvement at outcome for the depression patients. Both parent-reported Child Behavior Checklist total T-score at clinic admission and the number of lifetime systems-of-care for the child were significantly and inversely associated with improvement for the bipolar cohort. Early-onset bipolar disorder is a complex and heterogeneous psychiatric disorder. Evidence-based treatment should emphasize psychopharmacology with adjunctive family and individual psychotherapy. Strategies to improve engagement in treatment may be especially

  11. Early-onset heroin use and its link to conduct disorder: Clinical and management challenges

    Directory of Open Access Journals (Sweden)

    Shobhit Jain

    2016-01-01

    Full Text Available Childhood substance abuse and delinquency often progress to harder substances and antisocial personality disorder and carries deleterious consequences for self, family and community at large. Early management of such cases poses several clinical and management challenges, as highlighted in the present case. The treatment seeking for this sub-population is very low in spite of community surveys showing a worrisome pattern of substance use among younger population. Further, very few specialty clinics and trained manpower exist in the country to manage early onset substance use. Whether conduct disorder be cause or consequence for drug use is debatable, in view of shared risk factors. The present case helps to understand need for comprehensive assessment for identifying risk factors and comorbid conditions. Only pharmacological management does not help, psychosocial management must be delivered. Several prevention strategies may also help if these risk factors are identified before progression to illicit substance use disorder.

  12. Early Onset Werner Syndrome

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    Berna İmge Aydoğan

    2015-09-01

    Full Text Available Werner syndrome (WS is a rare autosomal recessive adult-onset progeroid disorder characterized by the early onset of aged-appearance and age-related metabolic disorders. Symptoms of premature aging usually first develop in the second-third decades of life. We report a 27-year-old female who was admitted to our clinic at the age of eighteen with hyperglycemia. She was diagnosed with diabetes and type 4 dyslipidemia at the age of seven. In her family history, her parents were first cousins and she had three healthy brothers. On her first physical examination; she had bird-like face appearance, global hair loss, beaked nose, short stature and she was overweight. She had global hair loss with gray and thin hair. Hoarseness of voice and hyperkeratosis of skin were observed. She had bilateral cataracts and moderate sensorineural hearing loss. On psychiatric examination, borderline mental retardation was detected. She had severe insulin resistance and hypertriglyceridemia despite levothyroxine, gemfibrozil, omega-3 and intensive insulin treatment. Routine lipid apheresis was performed to lower the triglyceride levels reaching 5256 mg/dL. She also had focal segmental glomerulosclerosis, hepatosteatosis, osteoporosis and epilepsy. Disease was accompanied by several congenital deformities, such as Rathke’s cleft cyst, angiomyolipoma and femoral neck hypoplasia. WS is a rare genetic disorder characterized by multiple endocrine manifestations as well as soft tissue changes. We present a case of early disturbances that were diagnosed before typical clinical signs and symptoms. We propose that WS should be kept in mind when type 2 diabetes and hyperlipidemia are diagnosed early in childhood. Turk Jem 2015; 19: 99-104

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

    Science.gov (United States)

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

    2011-01-01

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

  14. Clinical outcome and placental characteristics of monochorionic diamniotic twin pairs with early- and late-onset discordant growth.

    Science.gov (United States)

    Lewi, Liesbeth; Gucciardo, Leonardo; Huber, Agnes; Jani, Jacques; Van Mieghem, Tim; Doné, Elisa; Cannie, Mieke; Gratacós, Eduardo; Diemert, Anke; Hecher, Kurt; Lewi, Paul; Deprest, Jan

    2008-11-01

    The purpose of this study was to examine the clinical and placental characteristics of monochorionic diamniotic twin pregnancies with early-onset discordant growth diagnosed at 20 weeks, late-onset discordant growth diagnosed at 26 weeks or later, and concordant growth. We studied a prospective cohort that underwent an ultrasound scan in the first trimester, at 16, 20, and 26 weeks. We excluded pregnancies complicated by twin-to-twin transfusion syndrome, miscarriage, fetal death less than 16 weeks, or severe congenital anomalies. Placental sharing and angioarchitecture were assessed by injection of each cord vessel with dyed barium sulphate. The 2 territories were delineated on an X-ray angiogram. The diameter of each intertwin anastomosis was measured on a digital photograph. We included 178 twin pairs. Early onset discordant growth, late-onset discordant growth, and concordant growth occurred in 15, 13, and 150 pregnancies, respectively. Twin pairs with early-onset discordant growth had lower survival rates and were delivered at an earlier gestational age than pairs with late-onset discordant and concordant growth. The degree of birthweight discordance was similar in early- and late-onset discordant growth. Severe intertwin hemoglobin differences at the time of birth occurred in 0%, 38%, and 3% of pairs with early-onset discordant growth, late-onset discordant growth, and concordant growth, respectively. The placentas of pairs with early-onset discordant growth were more unequally shared and had larger arterioarterial anastomoses and a larger total anastomotic diameter as compared with placentas of pairs with late onset-discordant or concordant growth. Unequal placental sharing appears to be involved in the etiology of early-onset discordant growth, whereas a late intertwin transfusion imbalance may be involved in some cases with late-onset discordant growth.

  15. Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions.

    Science.gov (United States)

    Kumaran, Neruban; Moore, Anthony T; Weleber, Richard G; Michaelides, Michel

    2017-09-01

    Leber congenital amaurosis (LCA) and early-onset severe retinal dystrophy (EOSRD) are both genetically and phenotypically heterogeneous, and characterised clinically by severe congenital/early infancy visual loss, nystagmus, amaurotic pupils and markedly reduced/absent full-field electroretinograms. The vast genetic heterogeneity of inherited retinal disease has been established over the last 10 - 20 years, with disease-causing variants identified in 25 genes to date associated with LCA/EOSRD, accounting for 70-80% of cases, with thereby more genes yet to be identified. There is now far greater understanding of the structural and functional associations seen in the various LCA/EOSRD genotypes. Subsequent development/characterisation of LCA/EOSRD animal models has shed light on the underlying pathogenesis and allowed the demonstration of successful rescue with gene replacement therapy and pharmacological intervention in multiple models. These advancements have culminated in more than 12 completed, ongoing and anticipated phase I/II and phase III gene therapy and pharmacological human clinical trials. This review describes the clinical and genetic characteristics of LCA/EOSRD and the differential diagnoses to be considered. We discuss in further detail the diagnostic clinical features, pathophysiology, animal models and human treatment studies and trials, in the more common genetic subtypes and/or those closest to intervention. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  16. Very Early-onset Schizophrenia with Secondary Onset Tic Disorder.

    Science.gov (United States)

    Telgote, Shilpa A; Pendharkar, Shreyas Shrikant; Kelkar, Amol D; Bhojane, Sachin

    2017-01-01

    Very early-onset schizophrenia (defined as an onset of psychosis before 13 years of age) is a rare and severe form of the disorder which is clinically and neurobiologically continuous with the adult-onset disorder. It is rarely reported tic disorder.

  17. Very early-onset schizophrenia with secondary onset tic disorder

    OpenAIRE

    Shilpa A Telgote; Shreyas Shrikant Pendharkar; Amol D Kelkar; Sachin Bhojane

    2017-01-01

    Very early-onset schizophrenia (defined as an onset of psychosis before 13 years of age) is a rare and severe form of the disorder which is clinically and neurobiologically continuous with the adult-onset disorder. It is rarely reported

  18. Clinical features in very early-onset demyelinating disease with anti-MOG antibody.

    Science.gov (United States)

    Nishiyama, Masahiro; Nagase, Hiroaki; Matsumoto, Masaaki; Tomioka, Kazumi; Awano, Hiroyuki; Tanaka, Tsukasa; Toyoshima, Daisaku; Fujita, Kyoko; Maruyama, Azusa; Oyazato, Yoshinobu; Saeki, Keisuke; Shiraishi, Kazuhiro; Takada, Satoshi; Kaneko, Kimihiko; Takahashi, Toshiyuki; Nakashima, Ichiro; Iijima, Kazumoto

    2017-10-01

    The clinical features of patients with very early-onset acquired demyelinating syndrome (ADS) with the anti-myelin oligodendrocyte glycoprotein (MOG) antibody are unknown. We investigated the clinical characteristics and described detailed treatment of weekly intramuscular interferon β-1a (IFNβ-1a) in children aged <4years with ADS and the anti-MOG antibody. We conducted a retrospective chart review of patients with anti-MOG positivity who were diagnosed as having multiple sclerosis (MS) at <4years of age. Subjects comprised 2 boys and 2 girls. Initial symptoms included ataxia, facial paresis, status epilepticus, and encephalopathy. Abnormal lesions on magnetic resonance imaging scans were often detected in the brainstem and cerebellum as well as the cerebrum. All patients started receiving IFNβ-1a at age 3.1-3.5years. The initial doses ranged from 3 to 6μg, which were 1/10-1/5 doses, respectively, for adults. During 0.6-4.3years of IFNβ-1a administration, all patients had flu-like symptoms, and 1 patient had an increased liver enzyme level. Although 1 patient discontinued IFNβ-1a therapy because of frequent relapses, no patient discontinued therapy due to severe adverse events. This case series adds novel information regarding the clinical features of children <4years old with ADS and the anti-MOG antibody. Copyright © 2017 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  19. MODERN APPROACHES TO CLINICAL AND LABORATORY DIAGNOSTICS OF RHEUMATOID ARTHRITIS EARLY ONSET

    Directory of Open Access Journals (Sweden)

    D. G. Rekalov

    2013-10-01

    Full Text Available Rheumatoid arthritis (RA leads not only to a rapid development of disability, but can influence the life of these patients. One-third of patients with rheumatoid arthritis may have signs of disability during the first 3 years of the onset of the disease, while mortality in patients with RA almost two times higher in comparison with the general population. Analysis of recent prospective studies on the progression of the pathological process and predicting of the long-term outcomes in RA clearly indicate the need for clinical evaluation and a comprehensive laboratory and instrumental diagnosis of the disease in the initial manifestations of the most followed by early adequate pathogenetic therapy. The purpose of this survey was to determine modern clinical aspects of diagnosis, the possibility of standard and specialized instrumental examinations in patients with eRA, followed by predicting long-term results. We studied 52 specialized publications on clinical classification and a modern laboratory and diagnostic tests for eRA. This review presents the data of the importance of differentiation of several stages of RA in relation to the time factor. The data on the sensitivity and specificity of the diagnostic classification and clinical criteria of eRA and an algorithm for the identification of the disease were presented. It was shown prognostic value of the main serological markers of RA, and the predictive value for early detection of antibodies to the circulating peptide as a marker of the severity of bone-destructive changes in patients with certain clinical manifestations. Antibodies to the circulating peptide (ACPA can be detected many years before the onset of RA. Study of anti-citrulline mutated vimentin (anti-MCV in patients with eRA can be applied as a marker of activity of the process and the subsequent possibility of use for predicting long-term results. This review presents the major diagnostic errors using standard instrumental

  20. Low Prevalence and Clinical Effect of Vascular Risk Factors in Early-Onset Alzheimer's Disease.

    Science.gov (United States)

    Chen, Yaohua; Sillaire, Adeline Rollin; Dallongeville, Jean; Skrobala, Emilie; Wallon, David; Dubois, Bruno; Hannequin, Didier; Pasquier, Florence

    2017-01-01

    Determinants of early-onset Alzheimer's disease (EOAD) are not well known. In late-onset AD, vascular risk factors (VRFs) are associated with earlier clinical manifestation. The objective of this study was to assess the putative association between VRFs and EOAD. We studied participants with dementia meeting criteria for EOAD (recruited into the French CoMAJ prospective cohort study from 1 June 2009 to 28 February 2014) and age-, gender-matched controls (ratio 1:3, drawn randomly from the French MONA-LISA population-based survey between 2005 and 2007). Demographic data, VRFs, comorbidities, treatments, and APOE genotypes were compared in multivariable logistic regression analyses. We studied 102 participants with dementia (mean±standard deviation age: 59.5±3.8; women: 59.8%) and 306 controls. Compared with controls, EOAD participants had spent less time in formal education (9.9±2.9 versus 11.7±3.8 y; p < 0.0001), were less likely to be regular alcohol consumers (p < 0.0001), had a lower body mass index (-2 kg/m2; p < 0.0004), and a lower mean systolic blood pressure (-6.2 mmHg; p = 0.0036). The prevalence of APOE ɛ4 allele was higher in participants with dementia than in controls (50% versus 29.4%; p = 0.0002), as was the prevalence of depression (48% versus 32%; p < 0.001). Similar results were observed in multivariable analysis. Compared with EOAD participants lacking VRFs, EOAD participants with at least one VRF had a higher prevalence of depression (29.6% versus 53.3%, respectively; p = 0.03). The prevalence of VRFs is not elevated in EOAD patients (in contrast to older AD patients). Extensive genetic testing should be considered more frequently in the context of EOAD.

  1. Clinical importance of risk variants in the dihydropyrimidine dehydrogenase gene for the prediction of early-onset fluoropyrimidine toxicity

    OpenAIRE

    Froehlich Tanja K.; Amstutz Ursula; Aebi Stefan; Joerger Markus; Largiader Carlo R.

    2015-01-01

    We investigated the clinical relevance of dihydropyrimidine dehydrogenase gene (DPYD) variants to predict severe early onset fluoropyrimidine (FP) toxicity in particular of a recently discovered haplotype hapB3 and a linked deep intronic splice site mutation c.1129 5923C>G. Selected regions of DPYD were sequenced in prospectively collected germline DNA of 500 patients receiving FP based chemotherapy. Associations of DPYD variants and haplotypes with hematologic gastrointestinal infectious and...

  2. Cerebellar ataxia of early onset

    International Nuclear Information System (INIS)

    Yamashita, Sumimasa; Miyake, Shota; Yamada, Michiko; Iwamoto, Hiroko; Yamada, Kazuhiko.

    1989-01-01

    Eight cases of childhood cerebellar ataxia were reported. All these cases showed chronic cerebellar ataxia with early onset, and the other diseases of cerebellum such as infections, neoplasms and storage diseases were excluded by clinical symptoms and laboratory findings including blood counts, blood chemistry, lactate, pyruvate, ceruloplasmine, urinalysis, serum immunoglobulins, amino acid analysis in blood and urine, CSF analysis, leukocyte lysosomal enzymes, MCV, EMG, EEG and brain X-CT. Two pairs of siblings were included in this study. The clinical diagnosis were cerebellar type (5), spinocerebellar type (1), one Marinesco-Sjoegren syndrome and undetermined type (1). The age of onset was 1 to 5 years. The chief complaint was motor developmental delay in 6 cases; among them 5 patients could walk alone at the ages of 2 to 3 years'. Mental retardation was observed in 7 cases and epilepsy in 2. TRH was effective in 5 cases. The MRI study revealed that the area of medial sagittal slice of the cerebellum was reduced significantly in all cases and also that of pons was reduced in 5 cases. Different from typical adult onset spinocerebellar degenerations, most of the present cases have achieved slow developmental milestones and the clinical course was not progressive. Genetic factors are suspected in the pathogenesis of this disease in some cases. (author)

  3. Clinical dissection of early onset absence epilepsy in children and prognostic implications.

    Science.gov (United States)

    Agostinelli, Sergio; Accorsi, Patrizia; Beccaria, Francesca; Belcastro, Vincenzo; Canevini, Maria Paola; Capovilla, Giuseppe; Cappanera, Silvia; Dalla Bernardina, Bernardo; Darra, Francesca; Del Gaudio, Luigi; Elia, Maurizio; Falsaperla, Raffaele; Giordano, Lucio; Gobbi, Giuseppe; Minetti, Carlo; Nicita, Francesco; Parisi, Pasquale; Pavone, Piero; Pezzella, Marianna; Sesta, Michela; Spalice, Alberto; Striano, Salvatore; Tozzi, Elisabetta; Traverso, Monica; Vari, Stella; Vignoli, Aglaia; Zamponi, Nelia; Zara, Federico; Striano, Pasquale; Verrotti, Alberto

    2013-10-01

    To investigate whether patients with typical absence seizures (TAS) starting in the first 3 years of life, conformed to Panayiotopoulos's definition of childhood absence epilepsy (CAE), show different electroclinical course than those not fulfilling CAE criteria. In this multicenter retrospective study, we choose a fixed duration follow-up of 36 months to examine the electroclinical course of epilepsy in all children with TAS starting before 3 years of age. The probands who fulfilled Panayiotopoulos's criteria for CAE were classified as having pure early onset absence epilepsy (P-EOAE), whereas those who did not as nonpure EOAE (NP-EOAE). In addition, these two groups of patients were further stratified according to the number of antiepileptic drugs taken to obtain initial seizure control (mono-, bi-, and tritherapy). Patients with P-EOAE (n = 111) showed earlier initial seizure control (p = 0.030) and better seizure-free survival curve (p = 0.004) than those with NP-EOAE (n = 77). No mutation in SLC2A1 gene or abnormal neuroimaging was observed in P-EOAE. Among patients with NP-EOAE, those receiving tritherapy showed increased risk of structural brain abnormalities (p = 0.001) or SLC2A1 mutations (p = 0.001) but fewer myoclonic features (p = 0.031) and worse seizure-free survival curve (p = 0.047) than those treated with mono- and bitherapy. Children with NP-EOAE had 2.134 the odds of having relapse during the follow-up compare to those with P-EOAE. Children with early onset TAS who did meet Panayiotopoulos's criteria showed a favorable course of epilepsy, whereas patients not fulfilling Panayiotopoulos's criteria showed increased risk of relapse at long-term follow-up. Wiley Periodicals, Inc. © 2013 International League Against Epilepsy.

  4. Early- versus Late-Onset Systemic Sclerosis

    Science.gov (United States)

    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

    2014-01-01

    Abstract 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

  5. Pronounced Structural and Functional Damage in Early Adult Pediatric-Onset Multiple Sclerosis with No or Minimal Clinical Disability

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    Antonio Giorgio

    2017-11-01

    Full Text Available Pediatric-onset multiple sclerosis (POMS may represent a model of vulnerability to damage occurring during a period of active maturation of the human brain. Whereas adaptive mechanisms seem to take place in the POMS brain in the short-medium term, natural history studies have shown that these patients reach irreversible disability, despite slower progression, at a significantly younger age than adult-onset MS (AOMS patients. We tested for the first time whether significant brain alterations already occurred in POMS patients in their early adulthood and with no or minimal disability (n = 15 in comparison with age- and disability-matched AOMS patients (n = 14 and to normal controls (NC, n = 20. We used a multimodal MRI approach by modeling, using FSL, voxelwise measures of microstructural integrity of white matter tracts and gray matter volumes with those of intra- and internetwork functional connectivity (FC (analysis of variance, p ≤ 0.01, corrected for multiple comparisons across space. POMS patients showed, when compared with both NC and AOMS patients, altered measures of diffusion tensor imaging (reduced fractional anisotropy and/or increased diffusivities and higher probability of lesion occurrence in a clinically eloquent region for physical disability such as the posterior corona radiata. In addition, POMS patients showed, compared with the other two groups, reduced long-range FC, assessed from resting functional MRI, between default mode network and secondary visual network, whose interaction subserves important cognitive functions such as spatial attention and visual learning. Overall, this pattern of structural damage and brain connectivity disruption in early adult POMS patients with no or minimal clinical disability might explain their unfavorable clinical outcome in the long term.

  6. Early onset sebaceous carcinoma

    Directory of Open Access Journals (Sweden)

    Kaltreider Sara A

    2011-09-01

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

  7. Clinical Manifestations and Amplitude-integrated Encephalogram in Neonates with Early-onset Epileptic Encephalopathy

    Directory of Open Access Journals (Sweden)

    Li-Li Liu

    2017-01-01

    Conclusions: The clinical characteristics of the neonatal seizure which will evolve into EOEE were more than two AEDs application, high seizure frequency (daily attack, and more than two types of the seizure. Significant high voltage, severely abnormal background, absence of cyclicity, and more than two seizures detected on aEEG were the meaningful indicators to the prediction of EOEE.

  8. Early Onset Charcot-Marie-Tooth Disease

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2005-06-01

    Full Text Available The clinical signs and genetic analysis of early-onset Charcot-Marie-Tooth disease (CMT in a 2-year-old boy and members of his family are reported from the Academic Medical Center, Amsterdam, and Sophia Children’s Hospital, Rotterdam, the Netherlands.

  9. Genetics Home Reference: early-onset glaucoma

    Science.gov (United States)

    ... Home Health Conditions Early-onset glaucoma Early-onset glaucoma Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Glaucoma is a group of eye disorders in which ...

  10. Low Prevalence and Clinical Effect of Vascular Risk Factors in Early-Onset Alzheimer’s Disease

    Science.gov (United States)

    Chen, Yaohua; Sillaire, Adeline Rollin; Dallongeville, Jean; Skrobala, Emilie; Wallon, David; Dubois, Bruno; Hannequin, Didier; Pasquier, Florence; Bombois, Stéphanie; Boutantin, Justine; Cassagnaud, Pascaline; Chen, Yaohua; Delbeuck, Xavier; Delmaire, Christine; Deramecourt, Vincent; Gele, Patrick; Houssein-Foucher, Claude; Jacquemont, Charlotte; Lebert, Florence; Lebouvier, Thibaud; Lopez, Renaud; Mackowiak, Marie-Anne; Maureille, Aurélien; Pasquier, Florence; Petyt, Grégory; Pollet, Marianne; Rollin-Sillaire, Adeline; Schraen, Susanna; Semah, Franck; Vanhoutte, Matthieu

    2017-01-01

    Background: Determinants of early-onset Alzheimer’s disease (EOAD) are not well known. In late-onset AD, vascular risk factors (VRFs) are associated with earlier clinical manifestation. Objective: The objective of this study was to assess the putative association between VRFs and EOAD. Methods: We studied participants with dementia meeting criteria for EOAD (recruited into the French CoMAJ prospective cohort study from 1 June 2009 to 28 February 2014) and age-, gender-matched controls (ratio 1:3, drawn randomly from the French MONA-LISA population-based survey between 2005 and 2007). Demographic data, VRFs, comorbidities, treatments, and APOE genotypes were compared in multivariable logistic regression analyses. Results: We studied 102 participants with dementia (mean±standard deviation age: 59.5±3.8; women: 59.8%) and 306 controls. Compared with controls, EOAD participants had spent less time in formal education (9.9±2.9 versus 11.7±3.8 y; p < 0.0001), were less likely to be regular alcohol consumers (p < 0.0001), had a lower body mass index (–2 kg/m2; p < 0.0004), and a lower mean systolic blood pressure (–6.2 mmHg; p = 0.0036). The prevalence of APOE ɛ4 allele was higher in participants with dementia than in controls (50% versus 29.4%; p = 0.0002), as was the prevalence of depression (48% versus 32%; p < 0.001). Similar results were observed in multivariable analysis. Compared with EOAD participants lacking VRFs, EOAD participants with at least one VRF had a higher prevalence of depression (29.6% versus 53.3%, respectively; p = 0.03). Conclusion: The prevalence of VRFs is not elevated in EOAD patients (in contrast to older AD patients). Extensive genetic testing should be considered more frequently in the context of EOAD. PMID:28984595

  11. [Neonatal bacteremia--frequency, spectrum of organisms and correlation between clinical symptoms and laboratory data for early onset sepsis].

    Science.gov (United States)

    Vakrilova, L; Hitrova, St; Shopova, E; Rousseva, R; Radulova, A; Masseva, A

    2014-01-01

    Improved obstetrical management and evidence-based peripartum antimicrobial therapy in the last decades reduce the frequency of early-onset neonatal sepsis (EONS) and improve the outcome. The spectrum of the microrganisms is different according to regions, countries and periods of time. Appropriate diagnosis and treatment improve the outcome. However dissociation often occurs between clinical manifestation, laboratory and microbiological findings. To determine the incidence of neonatal bacteremia in our hospital, to identify the spectrum of organisms from positive blood cultures (BC), to analyze the correlation between clinical manifestation of EOS and/or laboratory abnormalities. This study was carried out at the University Hospital of Obstetrics and Gynecology "Maichin dom"- Sofia for 2012. From all 4081 inborn babies 848 were at risk for maternal-fetal infection. In the first two hours after birth they were screened for EONS using a panel of microbiological probes and laboratory blood tests, followed up the next days. According the guidelines of the Neonatology clinic a standard antibiotic therapy was started. 43 of the screened infants (1.05% of all inborn babies) had positive BC and were enrolled in this study. Sixteen from the 43 babies with positive BC were with birthweight > 2500g (0.48% from all 3316 life born term infants), 27--with birthweight < 2500g (3.5% from all 765 low birthweight babies), 24 were patients of the NICU (3.8% of all 635 babies admitted at the NICU for 2012). No one died. The following groups of organisms in BC were isolated: 24 BC with coagulase-negative Staphylococci, Methicilline sensitive (MSCoNS)--11 of them without any clinical symptoms and laboratory abnormalities were interpreted as result of contamination, 1 BC with Staphylococcus aureus MS (MSSA), 8 with alpha-Streptococci, 5 with Enterococcus faecalis (1 in combination with MSCoNS), 2 with GBS, 2 with Aerococcus urinae and 2 BC with Listeria monocytogenes. Gram

  12. Early and late-onset acute GvHD following hematopoietic cell transplantation: CT features of gastrointestinal involvement with clinical and pathological correlation

    Energy Technology Data Exchange (ETDEWEB)

    Brodoefel, H. [Department of Diagnostic Radiology, Eberhard-Karls-University, Hoppe-Seyler-Str. 3, 72076 Tuebingen (Germany)], E-mail: h.brodoefel@t-online.de; Bethge, W. [Department of Internal Medicine II, Oncology/Haematology, Eberhard-Karls-University, Otfried-Mueller-Str. 10, 72076 Tuebingen (Germany); Vogel, M.; Fenchel, M. [Department of Diagnostic Radiology, Eberhard-Karls-University, Hoppe-Seyler-Str. 3, 72076 Tuebingen (Germany); Faul, C. [Department of Internal Medicine II, Oncology/Haematology, Eberhard-Karls-University, Otfried-Mueller-Str. 10, 72076 Tuebingen (Germany); Wehrmann, M. [Department of Pathology, Eberhard-Karls-University, Liebermeister-Str. 8, 72076, Tuebingen (Germany); Claussen, C.; Horger, M. [Department of Diagnostic Radiology, Eberhard-Karls-University, Hoppe-Seyler-Str. 3, 72076 Tuebingen (Germany)

    2010-03-15

    Objective: With the introduction of non-myeloablative hematopoietic cell transplantation, acute graft-versus-host-disease (GvHD) is frequently observed beyond the traditional 100 days cut-off. The aim of this study was to describe and compare CT features of gastrointestinal early and late-onset GvHD and to correlate findings with clinical and pathology grading. Subjects and methods: Abdominal CT scans were obtained in 20 patients with early and 15 with late-onset GvHD. Examinations were assessed for intestinal and extraintestinal abnormalities and findings compared between the two subgroups of GvHD. Distinct CT abnormalities as well as a CT-score integrating multiple pathologies were correlated with gut, clinical or pathology grading. Results: Frequent intestinal abnormalities included wall thickening, abnormal enhancement, and excessive fluid-filling (94%, 89%, and 94%). 86% of patients showed concomitant small and large bowel involvement. A discontinuous distribution was observed in 54%. Bile tract abnormality was the most common extra-intestinal finding (74%). The distribution of pathologies was equal between subgroups of early or late-onset disease. Wall thickening and mucosal attenuation in non-enhanced scans were significantly related to clinical and pathology scores (P {<=} 0.018). Number of abnormal segments, small bowel dilatation, engorgement of the vasa recta, mesenteric fat stranding and ascites were linked to clinical grading (P {<=} 0.019). A CT-score integrating multiple abnormalities was correlated to gut, overall clinical and pathology grading (r = 0.64, 0.57, 0.50). Conclusion: CT morphology of acute GvHD is independent of its time of onset and, thus, facilitates differential diagnosis of late-onset acute GvHD. Correlation of CT morphology with clinical and pathological grading is important in terms of prognosis and may help guiding the therapeutic approach.

  13. Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome.

    Science.gov (United States)

    Santín, Sheila; Tazón-Vega, Bárbara; Silva, Irene; Cobo, María Ángeles; Giménez, Isabel; Ruíz, Patricia; García-Maset, Rafael; Ballarín, José; Torra, Roser; Ars, Elisabet

    2011-02-01

    To date, very few cases with adult-onset focal segmental glomerulosclerosis (FSGS) carrying NPHS2 variants have been described, all of them being compound heterozygous for the p.R229Q variant and one pathogenic mutation. Mutation analysis was performed in 148 unrelated Spanish patients, of whom 50 presented with FSGS after 18 years of age. Pathogenicity of amino acid substitutions was evaluated through an in silico scoring system. Haplotype analysis was carried out using NPHS2 single nucleotide polymorphism and microsatellite markers. Compound heterozygous or homozygous NPHS2 pathogenic mutations were identified in seven childhood-onset steroid-resistant nephrotic syndrome (SRNS) cases. Six additional cases with late childhood- and adult-onset SRNS were compound heterozygotes for p.R229Q and one pathogenic mutation, mostly p.A284V. p.R229Q was more frequent among SRNS cases relative to controls (odds ratio=2.65; P=0.02). Significantly higher age at onset of the disease and slower progression to ESRD were found in patients with one pathogenic mutation plus the p.R229Q variant in respect to patients with two NPHS2 pathogenic mutations. NPHS2 analysis has a clinical value in both childhood- and adult-onset SRNS patients. For adult-onset patients, the first step should be screening for p.R229Q and, if positive, for p.A284V. These alleles are present in conserved haplotypes, suggesting a common origin for these substitutions. Patients carrying this specific NPHS2 allele combination did not respond to corticoids or immunosuppressors and showed FSGS, average 8-year progression to ESRD, and low risk for recurrence of FSGS after kidney transplant.

  14. Genomes of early onset prostate cancer

    DEFF Research Database (Denmark)

    Weischenfeldt, Joachim; Korbel, Jan O.

    2017-01-01

    Purpose of review Prostate cancer is a disease of the elderly but a clinically relevant subset occurs early in life. In the current review, we discuss recent findings and the current understanding of the molecular underpinnings associated with early-onset prostate cancer (PCa) and the evidence...... supporting age-specific differences in the cancer genomes. Recent findings Recent surveys of PCa patient cohorts have provided novel age-dependent links between germline and somatic aberrations which points to differences in the molecular cause and treatment options. Summary Identifying the earliest...

  15. Severe early onset ethylmalonic encephalopathy with West syndrome.

    Science.gov (United States)

    Papetti, Laura; Garone, Giacomo; Schettini, Livia; Giordano, Carla; Nicita, Francesco; Papoff, Paola; Zeviani, Massimo; Leuzzi, Vincenzo; Spalice, Alberto

    2015-12-01

    Ethylmalonic encephalopathy (EE) is a rare autosomal recessive disorder characterized by early onset encephalopathy, chronic diarrhoea, petechiae, orthostatic acrocyanosis and defective cytochrome c oxidase (COX) in muscle and brain. High levels of lactic, ethylmalonic and methylsuccinic acids are detected in body fluids. EE is caused by mutations in ETHE1 gene, a mitochondrial sulfur dioxygenase. Neurologic signs and symptoms include progressively delayed development, hypotonia, seizures, and abnormal movements. We report on the clinical, electroencephalographic and MRI findings of a baby with a severe early onset encephalopathy associated with novel ETHE1 gene mutation. This is the first case described in literature with an early pure epileptic onset, presenting with West syndrome.

  16. Age at Onset and Clinical Correlates in Body Dysmorphic Disorder

    Science.gov (United States)

    Bjornsson, Andri S.; Didie, Elizabeth R.; Grant, Jon E.; Menard, William; Stalker, Emily; Phillips, Katharine A.

    2013-01-01

    OBJECTIVE Age at onset is an important clinical feature of all disorders. However, no prior studies have focused on this important construct in body dysmorphic disorder (BDD). In addition, across a number of psychiatric disorders, early age at disorder onset is associated with greater illness severity and greater comorbidity with other disorders. However, clinical correlates of age at onset have not been previously studied in BDD. METHODS Age at onset and other variables of interest were assessed in two samples of adults with DSM-IV BDD; sample 1 consisted of 184 adult participants in a study of the course of BDD, and sample 2 consisted of 244 adults seeking consultation or treatment for BDD. Reliable and valid measures were used. Subjects with early-onset BDD (age 17 or younger) were compared to those with late-onset BDD. RESULTS BDD had a mean age at onset of 16.7 (SD=7.3) in sample 1 and 16.7 (SD=7.2) in sample 2. 66.3% of subjects in sample 1 and 67.2% in sample 2 had BDD onset before age 18. A higher proportion of females had early-onset BDD in sample 1 but not in sample 2. On one of three measures in sample 1, those with early-onset BDD currently had more severe BDD symptoms. Individuals with early-onset BDD were more likely to have attempted suicide in both samples and to have attempted suicide due to BDD in sample 2. Early age at BDD onset was associated with a history of physical violence due to BDD and psychiatric hospitalization in sample 2. Those with early-onset BDD were more likely to report a gradual onset of BDD than those with late-onset in both samples. Participants with early-onset BDD had a greater number of lifetime comorbid disorders on both Axis I and Axis II in sample 1 but not in sample 2. More specifically, those with early-onset BDD were more likely to have a lifetime eating disorder (anorexia nervosa or bulimia nervosa) in both samples, a lifetime substance use disorder (both alcohol and non-alcohol) and borderline personality disorder

  17. Ethics and social acceptability of a proposed clinical trial using maternal gene therapy to treat severe early-onset fetal growth restriction.

    Science.gov (United States)

    Sheppard, M; Spencer, R N; Ashcroft, R; David, A L

    2016-04-01

    To evaluate the ethical and social acceptability of a proposed clinical trial using maternal uterine artery vascular endothelial growth factor (VEGF) gene therapy to treat severe early-onset fetal growth restriction (FGR) in pregnant women. We conducted a literature review on the ethics and legality of experimental treatments in pregnant women, in particular advanced therapeutics. Issues that were identified from the literature helped develop interview guides for semistructured, qualitative interviews, carried out in four European countries, with 34 key stakeholders (disability groups, professional bodies and patient support groups) and 24 women/couples who had experienced a pregnancy affected by severe early-onset FGR. The literature review identified two main questions: 'is it ethical to give a pregnant woman a potentially risky treatment from which she does not benefit directly?' and 'is it ethical to treat a condition of the unborn child, who may then be born with a serious disability when, without treatment, they would have died?'. The review concluded that there were no ethical or legal objections to the intervention, or to a trial of this intervention. Overall, respondents viewed the proposed trial in positive terms. Women were generally interested in participating in clinical trials that conferred a potential benefit to their unborn child. The risk of disability of the premature child was a concern, but not considered a major stumbling block for maternal VEGF gene therapy. This study did not identify any fundamental or insurmountable objections to a trial of maternal gene therapy for severe early-onset FGR. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd.

  18. [Neurological soft signs in early onset schizophrenia].

    Science.gov (United States)

    Bourgou Gaha, S; Halayem Dhouib, S; Amado, I; Bouden, A

    2015-06-01

    Neurological soft signs (NSS) are subtle neurological abnormalities that cannot be linked to the achievement of a specific region of the central nervous system and which are not part of a particular neurological syndrome. These signs are observed in the case of diseases supporting the neurodevelopmental model such as schizophrenia in general and its early form defined notably by an age of onset of less than 18 years. Indeed, the NSS belong to a set of clinical, cognitive, electrophysiological and neuroanatomical markers reflecting neurodevelopmental brain abnormalities in patients with schizophrenia. The objectives of our study were to determine the prevalence, the scores, and the nature of neurological soft signs (NSS) in adolescent patients suffering from early onset schizophrenia diagnosis in comparison to healthy controls, and to explore the correlations between NSS and the demographic, clinical and therapeutic features of these patients. Twelve adolescents were recruited in the Child Psychiatry Department at the Razi Hospital (Tunisia), with the diagnosis of schizophrenia according to the DSM-IV supplemented by the Kiddie SAD PL. They were matched by age and educational level with twelve healthy controls without psychiatric family or personal history. The clinical status of the patients was assessed using the Positive and Negative Syndrome Scale (PANSS). Neurological soft signs (NSS) were rated with the Neurological Soft Signs Examination (NSSE) by Krebs et al. (2000) for the two groups. This scale is composed of 23 items exploring motor coordination, motor integrative function, sensory integration, involuntary movements and quality of lateralization. The mean age of our population was 14.7 years. The average age of onset of the disease was 12.2 years. The sex-ratio was 1.4. Educational level was 7.4 years. The PANSS mean total score was 74.3. The mean daily dose, in chlorpromazine equivalents, was 523.9 mg/day. Four patients received a strict monotherapy of

  19. Insulin gene mutations resulting in early-onset diabetes: marked differences in clinical presentation, metabolic status, and pathogenic effect through endoplasmic reticulum retention

    DEFF Research Database (Denmark)

    Meur, Gargi; Simon, Albane; Harun, Nasret

    2009-01-01

    the molecular mechanisms involved. RESEARCH DESIGN AND METHODS: The INS gene was sequenced in 16 French probands with unexplained MODY, 95 patients with nonautoimmune early-onset diabetes (diagnosed at French origin. Three identified insulin mutants were...

  20. COMPARATIVE STUDY OF MATERNAL AND PERINATAL OUTCOME IN EARLY ONSET AND LATE ONSET PREECLAMPSIA

    Directory of Open Access Journals (Sweden)

    Sreedevi Atluri

    2017-01-01

    Full Text Available BACKGROUND Preeclampsia is the leading cause of maternal and perinatal morbidity and mortality worldwide, the exact aetiology of which is still unknown. The concept of early and late pre-eclampsia depending on gestational age at onset is more modern and is widely accepted that these two entities have different aetiologies and should be considered as different forms of the disease. Even though the presenting features overlap, these two entities of preeclampsia differ by biochemical markers, maternal and foetal outcomes. Aim of the Study- This study compares early-onset preeclampsia and late-onset preeclampsia with respect to their clinical presentation, laboratory parameters, management options, maternal and foetal outcomes which gives us an idea that these two preeclampsia subtypes have different pathological processes and a need for varied clinical approach to prevent adverse outcomes. METHODS This is a prospective comparative study conducted in JSS Hospital, Mysore from November, 2014 to June, 2016. All Antenatal cases (both booked and unbooked with gestational age ≥20 weeks between 18 yrs. and 40 yrs. of age diagnosed as preeclampsia as per the inclusion and exclusion criteria attending the outpatient department or admitted were selected and divided in to two groups, early onset preeclampsia (EOP group if gestational age at onset of preeclampsia is before 34 weeks and late onset preeclampsia if gestational age at onset is at 34 weeks or later were observed until delivery and early postpartum period and babies till early neonatal period. RESULTS A total of 158 patients at >20 weeks of gestation with preeclampsia were enrolled for this study. Early-onset Preeclampsia (EOP and Late-onset Preeclampsia (LOP had 75 and 83 pre eclamptic women respectively. Early onset group had severe clinical picture with deranged laboratory findings (Thrombocytopenia, altered liver enzymes, lactic dehydrogenase (LDH levels, urea and creatinine levels compared to

  1. Ultra-early onset post-transplantation Lymphoproliferative disease

    Directory of Open Access Journals (Sweden)

    Hossein Khedmat

    2013-01-01

    Full Text Available Post-transplant lymphoproliferative disease (PTLD can present as early as days to as late as several decades after transplantation. This study, however, tries to research PTLD characteristics including histopathological and clinical features, predictors and prognosis of the disease when occurring within the first month post-transplantation. We conducted a comprehensive search for the available data using the Pubmed and Google scholar search engines for reports indicating presentation time in PTLD patients. Data from 25 previously published studies were included in the analysis. Finally, we found 355 recipients of organs presenting with "ultra-early onset PTLD." Transplant recipients with ultra-early onset PTLD were significantly more likely to have kidney allografts (P = 0.032. Transplant recipients with ultra-early onset PTLD were comparable to their counterparts in the control group in their demographics, histopathological findings and survival. Patients with ultra-early onset PTLD were significantly more likely to receive induction therapy (100% vs. 49%, respectively; P = 0.013. Pancreas transplant recipients were at a significantly higher risk for development of ultra-early onset PTLD (20% vs. 1%, respectively; P <0.001. Our findings emphasize the importance of immunosuppression potency as well as the type of allograft transplanted on the incidence of PTLD in the early stages after transplantation. However, we found no histopathological or outcome disparities for patients with ultra-early PTLD compared with controls. Further prospective studies with more comparable approaches to the patients are needed to confirm our findings.

  2. Ultra-early onset post-transplantation lymphoproliferative disease.

    Science.gov (United States)

    Khedmat, Hossein; Taheri, Saeed

    2013-11-01

    Post-transplant lymphoproliferative disease (PTLD) can present as early as days to as late as several decades after transplantation. This study, however, tries to research PTLD characteristics including histopathological and clinical features, predictors and prognosis of the disease when occurring within the first month post-transplantation. We conducted a comprehensive search for the available data using the Pubmed and Google scholar search engines for reports indicating presentation time in PTLD patients. Data from 25 previously published studies were included in the analysis. Finally, we found 355 recipients of organs presenting with "ultra-early onset PTLD." Transplant recipients with ultra-early onset PTLD were significantly more likely to have kidney allografts (P = 0.032). Transplant recipients with ultra-early onset PTLD were comparable to their counterparts in the control group in their demographics, histopathological findings and survival. Patients with ultra-early onset PTLD were significantly more likely to receive induction therapy (100% vs. 49%, respectively; P = 0.013). Pancreas transplant recipients were at a significantly higher risk for development of ultra-early onset PTLD (20% vs. 1%, respectively; P <0.001). Our findings emphasize the importance of immunosuppression potency as well as the type of allograft transplanted on the incidence of PTLD in the early stages after transplantation. However, we found no histopathological or outcome disparities for patients with ultra-early PTLD compared with controls. Further prospective studies with more comparable approaches to the patients are needed to confirm our findings.

  3. Early onset epileptic encephalopathy or genetically determined encephalopathy with early onset epilepsy? Lessons learned from TSC.

    Science.gov (United States)

    Curatolo, Paolo; Aronica, Eleonora; Jansen, Anna; Jansen, Floor; Kotulska, Katarzyna; Lagae, Lieven; Moavero, Romina; Jozwiak, Sergiusz

    2016-03-01

    In tuberous sclerosis complex (TSC) a relationship has been shown between early and refractory seizures and intellectual disability. However, it is uncertain whether epilepsy in TSC is simply a marker in infants who are destined to develop an encephalopathic process or if seizures play a causal role in developing an encephalopathy. This paper summarizes the key points discussed during a European TSC workshop held in Rome, and reviews the experimental and clinical evidence in support of the two theories. There are many factors that influence the appearance of both early seizure onset and the encephalopathy resulting in neurodevelopmental deficits. Experimental studies show that as a consequence of the TSC genes mutation, mammalian target of Rapamycin (mTOR) overactivation determines an alteration in cellular morphology with cytomegalic neurons, altered synaptogenesis and an imbalance between excitation/inhibition, thus providing a likely neuroanatomical substrate for the early appearance of refractory seizures and for the encephalopathic process. At the clinical level, early signs of altered developmental trajectories are often unrecognized before 12 months of age. Evidence from experimental research shows that encephalopathy in TSC might have a genetic cause, and mTOR activation caused by TSC gene mutation can be directly responsible for the early appearance of seizures and encephalopathy. Copyright © 2015 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

  4. Demographic and clinical profile of patients with juvenile onset open ...

    African Journals Online (AJOL)

    Objective: To document the demographic characteristics, clinical features and treatment outcome of the patients diagnosed with JOAG. Materials ... [1] The juvenile onset open angle glaucoma (JOAG) is characterized by an early age of onset, ... in 1 in 50,000 individuals,[2] while Ellong et al.[3] reported a prevalence of 0.4% ...

  5. Early onset breast cancer in a registry-based sample of African-american women: BRCA mutation prevalence, and other personal and system-level clinical characteristics.

    Science.gov (United States)

    Pal, Tuya; Bonner, Devon; Kim, Jongphil; Monteiro, Alvaro N A; Kessler, Lisa; Royer, Robert; Narod, Steven A; Vadaparampil, Susan T

    2013-01-01

    Young Black women are disproportionately afflicted with breast cancer, a proportion of which may be due to BRCA1 and BRCA2 (BRCA) gene mutations. In a sample of Black women with early onset breast cancer, we evaluated BRCA mutations and explored personal and system-level clinical characteristics. Black women diagnosed with invasive breast cancer (age ≤50) were recruited through the state cancer registry. Participants completed a questionnaire, genetic counseling and BRCA testing. Of the 48 women who consented to study participation, 46 provided a usable biologic specimen for BRCA testing. The overall prevalence of BRCA mutations and variants of uncertain significance (VUS) in participants was 6.5% and 34.8%, respectively. Of these, only 14 were referred for genetic counseling prior to study enrollment. Overall, those participants who chose to undergo bilateral mastectomy had a higher number of relatives with breast and ovarian cancer (p = 0.024) and a higher household income (p = 0.009). BRCA mutation prevalence and the high prevalence of VUS in participants are consistent with prior studies. Furthermore, clinical factors such as family history and financial means may influence type of surgery recommended and chosen, at both the provider and patient level, respectively. Finally, the limited number of patients referred for genetic counseling prior to surgical treatment for breast cancer may represent a missed clinical opportunity to inform surgical decisions. © 2013 Wiley Periodicals, Inc.

  6. Early onset obsessive-compulsive disorder with and without tics.

    Science.gov (United States)

    de Mathis, Maria Alice; Diniz, Juliana B; Shavitt, Roseli G; Torres, Albina R; Ferrão, Ygor A; Fossaluza, Victor; Pereira, Carlos; Miguel, Eurípedes; do Rosario, Maria Conceicão

    2009-07-01

    Research suggests that obsessive-compulsive disorder (OCD) is not a unitary entity, but rather a highly heterogeneous condition, with complex and variable clinical manifestations. The aims of this study were to compare clinical and demographic characteristics of OCD patients with early and late age of onset of obsessive-compulsive symptoms (OCS); and to compare the same features in early onset OCD with and without tics. The independent impact of age at onset and presence of tics on comorbidity patterns was investigated. Three hundred and thirty consecutive outpatients meeting Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition criteria for OCD were evaluated: 160 patients belonged to the "early onset" group (EOG): before 11 years of age, 75 patients had an "intermediate onset" (IOG), and 95 patients were from the "late onset" group (LOG): after 18 years of age. From the 160 EOG, 60 had comorbidity with tic disorders. The diagnostic instruments used were: the Yale-Brown Obsessive Compulsive Scale and the Dimensional Yale-Brown Obsessive Compulsive Scale (DY-BOCS), Yale Global Tics Severity Scale, and Structured Clinical Interview for DSM-IV Axis I Disorders-patient edition. Statistical tests used were: Mann-Whitney, full Bayesian significance test, and logistic regression. The EOG had a predominance of males, higher frequency of family history of OCS, higher mean scores on the "aggression/violence" and "miscellaneous" dimensions, and higher mean global DY-BOCS scores. Patients with EOG without tic disorders presented higher mean global DY-BOCS scores and higher mean scores in the "contamination/cleaning" dimension. The current results disentangle some of the clinical overlap between early onset OCD with and without tics.

  7. Early- versus Late-onset Alzheimer’s Disease—3-year Outcomes of Cholinesterase Inhibitor Treatment in Routine Clinical Practice.

    OpenAIRE

    Wattmo, Carina; Minthon, Lennart; Wallin, Åsa

    2014-01-01

    Background: Alzheimer’s disease (AD) is an insidiously progressive neurodegenerative disorder that is characterized by multiple cognitive impairments and gradual loss of independence in carrying out activities of daily living (ADL). Currently, the predominant therapy for mild-to-moderate AD is cholinesterase inhibitors (ChEIs), which have been shown to have positive effects on symptoms compared with placebo in randomized clinical trials. There is an increased interest in dominantly inherited ...

  8. Novel Therapy for the Treatment of Early-Onset Preeclampsia.

    Science.gov (United States)

    Ornaghi, Sara; Paidas, Michael J

    2017-03-01

    Preeclampsia is a multisystem disorder affecting 2% to 8% of pregnancies and a leading cause of maternal and perinatal morbidity and mortality worldwide. Recent investigations have improved our understanding of the pathogenesis of this potentially life-threatening disease, especially in its early-onset form of manifestation. Despite these advances, therapeutic options are still limited and no effective pharmacologic interventions are currently available. Ongoing lines of research indicate some potential novel treatments targeting specific pathogenic steps. In this article we provide an updated overview of the multiple therapeutic approaches under preclinical and clinical assessment for the treatment of early-onset preeclampsia.

  9. Predictors of functional and clinical outcome in early-onset first-episode psychosis: the child and adolescent first episode of psychosis (CAFEPS) study.

    Science.gov (United States)

    Parellada, Mara; Castro-Fornieles, Josefina; Gonzalez-Pinto, Ana; Pina-Camacho, Laura; Moreno, Dolores; Rapado-Castro, Marta; Otero, Soraya; de la Serna, Elena; Moreno, Carmen; Baeza, Inmaculada; Graell, Montserrat; Arango, Celso

    2015-11-01

    The objective of this study was to study baseline clinical and biological predictors of 2-year outcome in a cohort of children and adolescents with a first episode of psychosis. Standard instruments were used to evaluate symptoms and functioning in 110 children and adolescents (mean age = 15.47 years) with first episode of psychosis at admission (between 2003 and 2005) and after 2-year follow-up. Clinical assessments included diagnostic assessment to yield DSM-IV diagnosis, developmental, premorbid, and past-year data, together with structural neuroimaging and other biological parameters (genetics and oxidative stress). Eighty-three subjects had assessments at baseline (including the Strauss-Carpenter Outcome Scale [SCOS]) and at 2-year follow-up. Association and multistep regression analyses were conducted to show correlates and predictors of primary outcome measures: functional outcome (Children's Global Assessment Scale [CGAS]), improvement (CGAS change), and primary negative symptoms (Proxy for the Deficit Syndrome Scale). The SCOS predicted 27.46% (P < .001) of the variance in CGAS score at 2 years. Baseline severity (measured by CGAS) predicted 30.9% (P < .001) of CGAS improvement after 2 years, and SCOS total score predicted an added 24.1% (P < .001). A diagnosis of nonaffective psychosis, primary negative symptoms, and less white matter at baseline predicted more primary negative symptoms at follow-up. The prediction of functional outcome was not increased by genetic, oxidative stress, or neurostructural markers. Baseline clinical assessments have a better predictive value than biological assessments for 2-year follow-up functioning of children and adolescents with a first episode of psychosis. Patients with primary negative symptoms at baseline continue to have negative symptoms 2 years later, and neurostructural markers predict these. Clinicians must still rely on clinical variables to judge the functional prognosis of early-onset first psychotic episodes

  10. Widespread Disruption of Functional Brain Organization in Early-Onset Alzheimer's Disease

    NARCIS (Netherlands)

    Adriaanse, S.M.; Binnewijzend, M.A.A.; Ossenkoppele, R.; Tijms, B.M.; van der Flier, W.M.; Koene, T.; Smits, L.L.; Wink, A.M.; Scheltens, P.; van Berckel, B.N.M.; Barkhof, F.

    2014-01-01

    Early-onset Alzheimer's disease (AD) patients present a different clinical profile than late-onset AD patients. This can be partially explained by cortical atrophy, although brain organization might provide more insight. The aim of this study was to examine functional connectivity in early-onset and

  11. Late-onset pathological gambling: clinical correlates and gender differences.

    Science.gov (United States)

    Grant, Jon E; Kim, Suck Won; Odlaug, Brian L; Buchanan, Stephanie N; Potenza, Marc N

    2009-01-01

    Age at illness onset has significant clinical implications for psychiatric disorders. Prior research has not systematically examined age at illness onset and its relationship to the clinical characteristics of pathological gambling (PG). Among a sample of 322 consecutive subjects with current DSM-IV PG, those with late-onset (at or after age 55 years) PG were compared to those with earlier onsets (at or prior to age 25, 26-54 years old) on measures of PG severity, co-occurring disorders, social and legal problems, and family history. Forty-two (13.4%) subjects reported onset of PG at or after age 55 years, 63 (19.6%) reported onset prior to age 25 years, and the majority (n=217; 67.4%) reported onset between the ages of 26 and 54 years. The late-onset group were less likely to declare bankruptcy (p=.029) or have credit card debt attributable to gambling (p=.006). Late-onset PG subjects were significantly more likely to have an anxiety disorder (pgambling problem. Exploratory analyses identified an age-by-gender interaction with respect to treatment-seeking, with more pronounced age-related shortening in the duration between problem onset and treatment seeking observed in men. Age at onset of PG is associated with multiple important clinical features. Long durations of PG prior to treatment-seeking indicate the need for improved prevention efforts among individuals with early PG onset. Late-onset PG is relatively common and has distinct clinical characteristics suggesting that this population might benefit from unique prevention and treatment strategies.

  12. A retrospective study of late-onset bipolar disorder: A comparison with early and intermediate onset

    Directory of Open Access Journals (Sweden)

    Sandeep Grover

    2017-01-01

    Full Text Available Aim: To evaluate the sociodemographic, clinical, and treatment characteristics profile of late-onset (LO bipolar affective disorder (BPAD (onset ≥50 years and compare the patients with LO BPAD with early age of onset (10–25 years and intermediate age of onset (26–40 years BPAD for the demographic features, illness characteristics, and treatment characteristics. Methodology: In this retrospective study, data (demographic features, clinical characteristics, and treatment characteristics of 115 patients with LO BPAD (onset ≥50 years were extracted and were compared with 93 patients with intermediate-onset (IO (26–40 years and 130 patients with early-onset (EO (10–25 years BPAD groups. Results: Patients with LO BPAD differ from EO and IO BPAD in having higher rates of family history of mental disorders, higher rates of comorbid psychiatric disorders (especially substance use disorders and physical illnesses, higher rates of suicidal ideations, lower rates of suicidal attempts, higher rates of Type-II BPAD, lower prevalence of psychotic symptoms during the episodes, shorter interepisodic duration, higher use of combination of mood stabilizers and antidepressants, lower preference of lithium, higher preference for valproate, and lower use of benzodiazepines. In addition, patients with LO BPAD differed from those with EO BPAD in having higher rates of having a depressive-manic illness pattern, longer duration of depressive episodes, and lower number of manic episodes. Patients with LO BPAD differed significantly from IO BPAD in having lower number of episodes and more often use of antipsychotic monotherapy during the acute phase. Conclusions: LO BPAD differs from IO and EO BPAD on several of the clinical characteristics. Treatment preferences by the clinicians for LO BPAD also differ from EO and IO BPAD.

  13. Renal function, body surface area, and age are associated with risk of early-onset fluoropyrimidine-associated toxicity in patients treated with capecitabine-based anticancer regimens in daily clinical care

    NARCIS (Netherlands)

    Meulendijks, Didier; van Hasselt, J G Coen; Huitema, Alwin D R; van Tinteren, Harm; Deenen, Maarten J; Beijnen, Jos H; Cats, Annemieke; Schellens, Jan H M

    BACKGROUND: The objective of this analysis was to determine the factors associated with early onset treatment-related toxicity in patients treated with capecitabine-based anticancer regimens in daily clinical care. PATIENTS AND METHODS: A total of 1463 patients previously included in a prospective

  14. Characterization of early partial seizure onset: frequency, complexity and entropy.

    Science.gov (United States)

    Jouny, Christophe C; Bergey, Gregory K

    2012-04-01

    A clear classification of partial seizures onset features is not yet established. Complexity and entropy have been very widely used to describe dynamical systems, but a systematic evaluation of these measures to characterize partial seizures has never been performed. Eighteen different measures including power in frequency bands up to 300 Hz, Gabor atom density (GAD), Higuchi fractal dimension (HFD), Lempel-Ziv complexity, Shannon entropy, sample entropy, and permutation entropy, were selected to test sensitivity to partial seizure onset. Intracranial recordings from 45 patients with mesial temporal, neocortical temporal and neocortical extratemporal seizure foci were included (331 partial seizures). GAD, Lempel-Ziv complexity, HFD, high frequency activity, and sample entropy were the most reliable measures to assess early seizure onset. Increases in complexity and occurrence of high-frequency components appear to be commonly associated with early stages of partial seizure evolution from all regions. The type of measure (frequency-based, complexity or entropy) does not predict the efficiency of the method to detect seizure onset. Differences between measures such as GAD and HFD highlight the multimodal nature of partial seizure onsets. Improved methods for early seizure detection may be achieved from a better understanding of these underlying dynamics. Copyright © 2011 International Federation of Clinical Neurophysiology. Published by Elsevier Ireland Ltd. All rights reserved.

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

    NARCIS (Netherlands)

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

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

  16. Factor analysis of symptom profile in early onset and late onset OCD.

    Science.gov (United States)

    Grover, Sandeep; Sarkar, Siddharth; Gupta, Gourav; Kate, Natasha; Ghosh, Abhishek; Chakrabarti, Subho; Avasthi, Ajit

    2018-04-01

    This study aimed to assess the factor structure of early and late onset OCD. Additionally, cluster analysis was conducted in the same sample to assess the applicability of the factors. 345 participants were assessed with Yale Brown Obsessive Compulsive Scale symptom checklist. Patients were classified as early onset (onset of symptoms at age ≤ 18 years) and late onset (onset at age > 18 years) OCD depending upon the age of onset of the symptoms. Factor analysis and cluster analysis of early-onset and late-onset OCD was conducted. The study sample comprised of 91 early onset and 245 late onset OCD subjects. Males were more common in the early onset group. Differences in the frequency of phenomenology related to contamination related, checking, repeating, counting and ordering/arranging compulsions were present across the early and late onset groups. Factor analysis of YBOCS revealed a 3 factor solution for both the groups, which largely concurred with each other. These factors were named as hoarding and symmetry (factor-1), contamination (factor-2) and aggressive, sexual and religious factor (factor-3). To conclude this study shows that factor structure of symptoms of OCD seems to be similar between early-onset and late-onset OCD. Copyright © 2017 Elsevier B.V. All rights reserved.

  17. Intraspinal anomalies in early-onset idiopathic scoliosis.

    Science.gov (United States)

    Pereira, E A C; Oxenham, M; Lam, K S

    2017-06-01

    In the United Kingdom, lower incidences of intraspinal abnormalities in patients with early onset idiopathic scoliosis have been observed than in studies in other countries. We aimed to determine the rates of these abnormalities in United Kingdom patients diagnosed with idiopathic scoliosis before the age of 11 years. This retrospective study of patients attending an urban scoliosis clinic identified 71 patients satisfying a criteria of: clinical diagnosis of idiopathic scoliosis; age of onset ten years and 11 months or less; MRI screening for intraspinal abnormalities. United Kingdom census data combined with patient referral data was used to calculate incidence. Mean age at diagnosis was six years with 39 right-sided and 32 left-sided curves. Four patients (5.6%) were found to have intraspinal abnormalities on MRI. These consisted of: two combined Arnold-Chiari type 1 malformations with syrinx; one syrinx with a low lying conus; and one isolated syrinx. Overall annual incidence of early onset idiopathic scoliosis was one out of 182 000 (0.0006%). This study reports the lowest rates to date of intraspinal anomalies in patients with early onset idiopathic scoliosis, adding to knowledge regarding current incidences of these abnormalities as well as any geographical variation in the nature of the disease. Cite this article: Bone Joint J 2017;99-B:829-33. ©2017 The British Editorial Society of Bone & Joint Surgery.

  18. Early-onset neonatal infection in Lithuania

    Directory of Open Access Journals (Sweden)

    Rasa Tamelienė

    2015-01-01

    Full Text Available Aim: The aim of the study was to analyze the etiology of early-onset neonatal infection (EONI, the risk factors, the forms and the time of its manifestation, and the tactics and outcomes of antibacterial treatment. Methods: During the prospective investigation, cases of newborns with diagnosed EONI and initial treatment in 2011 were analyzed. Four in-patient departments of Lithuania took part in the investigation. Results: In total, 18,778 newborns were included in the investigation. During the studied period, 209 cases of EONI were diagnosed: unspecified EONI in 168 (80.4% neonates, pneumonia in 20 (9.6%, and early-onset sepsis (EOS in 21 (10% neonates. Group B Streptococcus (GBS was responsible for 40% of microbiologically confirmed cases of sepsis. A negative blood culture was found in 11 newborns (52.4% treated for sepsis. In all the cases, EONI was empirically treated with penicillin and gentamycin. The duration of antibacterial treatment varied between in-patient departments in Lithuania. During the studied period, 51.7% of women were screened for GBS colonization during pregnancy, and 21% of them had a positive vaginal culture for GBS; 78% of GBS carriers received intrapartum prophylactic antibiotics. Conclusions: The incidence of culture-confirmed early neonatal sepsis in Lithuania is similar to that indicated in the scientific literature, and is decreasing. Routine antenatal screening for GBS vaginal carriage in pregnant women is not universally performed in Lithuania. The duration of antibacterial treatment for EONI should be standardized in Lithuania.

  19. Community vs. Clinic-Based Modular Treatment of Children with Early-Onset ODD or CD: A Clinical Trial with 3-Year Follow-Up

    Science.gov (United States)

    Kolko, David J.; Dorn, Lorah D.; Bukstein, Oscar G.; Pardini, Dustin; Holden, Elizabeth A.; Hart, Jonathan

    2009-01-01

    This study examines the treatment outcomes of 139, 6-11 year-old, clinically referred boys and girls diagnosed with Oppositional Defiant Disorder (ODD) or Conduct Disorder (CD) who were randomly assigned to a modular-based treatment protocol that was applied by research study clinicians either in the community (COMM) or a clinic office (CLINIC).…

  20. Strong family history and early onset of schizophrenia: about 2 ...

    African Journals Online (AJOL)

    Schizophrenia is a highly heritable psychotic disorder and high genetic loading is associated with early onset of the disease. The outcome of schizophrenia has also been linked with the age of onset as well as the presence of family history of the disease. Therefore families with patients with early onset Schizophrenia are ...

  1. Community vs. Clinic-based modular treatment of children with early-onset ODD or CD: A clinical trial with 3-year follow-up

    OpenAIRE

    Kolko, David J.; Bukstein, Oscar G.; Padini, Dustin; Holden, Elizabeth A.; Hart, Jonathan; Dorn, Lorah D.

    2009-01-01

    This study examines the treatment outcomes of 144, 6–11 year-old, clinically referred boys and girls diagnosed with Oppositional Defiant Disorder (ODD) or Conduct Disorder (CD) who were randomly assigned to a modular-based treatment protocol that was applied by research study clinicians either in the community (COMM) or a clinic office (CLINIC). To examine normative comparisons, a matched sample of 69 healthy control children was included. Multiple informants completed diagnostic interviews a...

  2. Early-onset Alzheimer's Disease Phenotypes: Neuropsychology and Neural Networks

    Science.gov (United States)

    2017-05-11

    Alzheimer Disease, Early Onset; Alzheimer Disease; Alzheimer Disease, Late Onset; Dementia, Alzheimer Type; Logopenic Progressive Aphasia; Primary Progressive Aphasia; Visuospatial/Perceptual Abilities; Posterior Cortical Atrophy; Executive Dysfunction; Corticobasal Degeneration; Ideomotor Apraxia

  3. Community vs. Clinic-based modular treatment of children with early-onset ODD or CD: A clinical trial with 3-year follow-up

    Science.gov (United States)

    Kolko, David J.; Bukstein, Oscar G.; Padini, Dustin; Holden, Elizabeth A.; Hart, Jonathan; Dorn, Lorah D.

    2016-01-01

    This study examines the treatment outcomes of 144, 6–11 year-old, clinically referred boys and girls diagnosed with Oppositional Defiant Disorder (ODD) or Conduct Disorder (CD) who were randomly assigned to a modular-based treatment protocol that was applied by research study clinicians either in the community (COMM) or a clinic office (CLINIC). To examine normative comparisons, a matched sample of 69 healthy control children was included. Multiple informants completed diagnostic interviews and self-reports at six assessment timepoints (pretreatment to 3-year follow-up) to evaluate changes in the child’s behavioral and emotional problems, psychopathic features, functional impairment, diagnostic status, and service involvement. Using HLM and logistic regression models, COMM and CLINIC showed significant and comparable improvements on all outcomes. By 3-year follow-up, 36% of COMM and 47% of CLINIC patients no longer met criteria for either ODD or CD, and 48% and 57% of the children in these two respective conditions had levels of parent-rated externalizing behavior problems in the normal range. We discuss the nature and implications of these novel findings regarding the role of treatment context or setting for the treatment and long-term outcome of behavior disorders. PMID:19221871

  4. Early onset facioscapulohumeral dystrophy - a systematic review using individual patient data

    NARCIS (Netherlands)

    Goselink, R.J.M.; Voermans, N.C.; Okkersen, K.; Brouwer, O.F.; Padberg, G.W.A.M.; Nikolic, A.; Tupler, R.; Dorobek, M.; Mah, J.K.; Engelen, B.G.M. van; Schreuder, T.H.A.; Erasmus, C.E.

    2017-01-01

    Infantile or early onset is estimated to occur in around 10% of all facioscapulohumeral dystrophy (FSHD) patients. Although small series of early onset FSHD patients have been reported, comprehensive data on the clinical phenotype is missing. We performed a systematic literature search on the

  5. Simple prepregnant prediction rule for recurrent early-onset hypertensive disease in pregnancy.

    NARCIS (Netherlands)

    Sep, S.J.; Smits, L.J.; Prins, M.H.; Spaanderman, M.E.A.; Peeters, L.L.

    2009-01-01

    OBJECTIVE: We aimed to develop a simple clinically useful prediction rule for early-onset recurrent preeclampsia and/or HELLP syndrome. METHODS: Women with previous early-onset preeclampsia and/or HELLP, enrolled between 1996 and 2007, and a subsequent ongoing pregnancy were included. Prepregnant

  6. Early Onset Diabetes - Genetic And Hormonal Analysis In Pakistani Population.

    Science.gov (United States)

    Wahid, Maryam; Kamran, Mohammad

    2016-01-01

    Mitochondrial DNA mutation and hormonal imbalance is involved in the pathogenesis of early onset diabetes but data is lacking in Pakistani population. The study was planned to delineate the clinical presentation of early onset diabetes with possible hormonal and genetic etiological factors and aascertain the possible etiological role of insulin and glucagon in these patients either on oral hypoglycaemic or subcutaneous insulin therapy. Retrospective, analytical case control study with conventional sampling technique carried at Centre for Research in Experimental and Applied Medicine (CREAM) affiliated with the department of Biochemistry and Molecular Biology, Army Medical College Rawalpindi from Dec 2006 to July 2011. Study included the patients (20-35 years of age) with early onset diabetes on oral hypoglycemic (n=240), insulin therapy (n=280), and compared with non-diabetic healthy controls (n=150). A fragment surrounding tRNALeu (UUR) gene was amplified by AmpliTaq from mtDNA which was extracted from peripheral blood leucocytes. Then it was subjected to restriction endonucleases, ApaI for A3242G mutation and HaeIII for G3316A mutation detection. Plasma glucose, glycosylated Hb, osmolality, insulin and glucagon levels along with ABGs analysis was also done. Non diabetic controls comprised of 51% males and 49% females, diabetics on oral hypoglycemic 60% males and 40 % females and on insulin therapy 54% males and 46% females. Insulin dependent diabetics had statistically significant hyperglucagonemia, acidemia and bicarbonate deficit. MtDNA A3242G and G3316A mutations were not detected. relative hyperglucagonemia and acidemia in Insulin dependent diabetics was a potent threat leading to DKA. The absence of two mtDNA mutations in ND1 gene rules out the possibility of involvement of these mutations in early onset diabetes in Pakistani population.

  7. Urea Cycle Defects: Early-Onset Disease Associated with A208T Mutation in OTC Gene—Expanding the Clinical Phenotype

    Directory of Open Access Journals (Sweden)

    Ana Isabel Sánchez

    2017-01-01

    Full Text Available Ornithine transcarbamylase deficiency (OMIM: 311250 is the most common disorder of urea cycle disorders, accounting for nearly 50% of all cases. We report a case of a two-month- old male patient, who attends our medical genetics consultation because of low citrulline levels and elevated glutamine to citrulline ratio detected by expanded newborn screening with tandem mass spectrometry. He is an asymptomatic male with a normal physical examination and appropriate neurodevelopmental milestones. The patient has a family history of one older brother who died at 18 months old from severe and sudden hyperammonemia and a maternal aunt who suddenly died at two years old. He had high plasma ammonium concentration and a confirmed OTC mutation (p.A208T. Usually, this mutation causes OTC deficiency of late onset in adult males. However, this report raises awareness about mutations previously described as a late-onset causing disease, which can cause severe hyperammonemia and high risk of dying at an early age.

  8. [Early onset scoliosis. What are the options?].

    Science.gov (United States)

    Farrington, D M; Tatay-Díaz, A

    2013-01-01

    The prognosis of children with progressive early onset scoliosis has improved considerably due to recent advances in surgical and non-surgical techniques and the understanding of the importance of preserving the thoracic space. Improvements in existing techniques and development of new methods have considerably improved the management of this condition. Derotational casting can be considered in children with documented progression of a <60° curve without previous surgical treatment. Both single and dual growing rods are effective, but the latter seem to offer better results. Hybrid constructs may be a better option in children who require a low-profile proximal anchor. The vertical expandable prosthetic titanium rib (VEPTR(®)) appears to be beneficial for patients with congenital scoliosis and fused ribs, and thoracic Insufficiency Syndrome. Children with medical comorbidities who may not tolerate repeated lengthenings should be considered for Shilla or Luque Trolley technique. Growth modulation using shape memory alloy staples or other tethers seem promising for mild curves, although more research is required to define their precise indications. Copyright © 2013 SECOT. Published by Elsevier Espana. All rights reserved.

  9. Factors influencing the development of early- or late-onset ...

    African Journals Online (AJOL)

    Background. Neurodegenerative disorders such as Parkinsonfs disease (PD) contribute significantly to global disease burden. PD can be categorised into early-onset PD (EOPD) with an age at onset (AAO) of .50 years and late-onset PD (LOPD) with an AAO of >50 years. Aims. To identify factors influencing EOPD and ...

  10. Early-onset stargardt disease: phenotypic and genotypic characteristics

    NARCIS (Netherlands)

    Lambertus, S.; Huet, R.A.C. van; Bax, N.M.; Hoefsloot, L.H.; Cremers, F.P.M.; Boon, C.J.F.; Klevering, B.J.; Hoyng, C.B.

    2015-01-01

    OBJECTIVE: To describe the phenotype and genotype of patients with early-onset Stargardt disease. DESIGN: Retrospective cohort study. PARTICIPANTS: Fifty-one Stargardt patients with age at onset onset, medical history, initial

  11. Clinical Practice Guidelines for Prevention, Diagnosis and Management of Early and Delayed-onset Ocular Injuries Due to Mustard Gas Exposure.

    Science.gov (United States)

    Rajavi, Zhale; Safi, Sare; Javadi, Mohammad Ali; Jafarinasab, Mohammad Reza; Feizi, Sepehr; Moghadam, Mohammadreza Sedighi; Jadidi, Khosrow; Babaei, Mahmoud; Shirvani, Armin; Baradaran-Rafii, Alireza; Mohammad-Rabei, Hossein; Ziaei, Hossein; Ghassemi-Broumand, Mohammad; Baher, Siamak Delfaza; Naderi, Mostafa; Panahi-Bazaz, Mahmoodreza; Zarei-Ghanavati, Siamak; Hanjani, Shahriar; Ghasemi, Hassan; Salouti, Ramin; Pakbin, Mojgan; Kheiri, Bahareh

    2017-01-01

    To develop clinical practice guidelines (CPGs) for prevention, diagnosis, treatment and follow-up of ocular injuries caused by exposure to mustard gas. The clinical questions were designed by the guideline team. Websites and databases including National Guidelines Clearinghouse, National Institute for Clinical Excellence, Cochrane, and PubMed were searched to find related CPGs and explore possible answers to the clinical questions. Since there were no relevant CPGs in the literature, related articles in Persian and English languages were extracted. Each article along with its level of evidence was summarized. Additionally, hand search was performed by looking the reference list of each article. Consequently, recommendations were developed considering the clinical benefits and side effects of each therapeutic modality. The recommendations were re-evaluated in terms of customization criteria. All recommendations along with the related evidence were scored from 1 to 9 by experts from all medical universities of Iran. The level of agreement among the experts was evaluated by analyzing the given scores. The agreement was achieved for all recommendations. The experts suggested a number of minor modifications which were applied to the recommendations. Finally, CPGs were developed with 98 recommendations under three major domains including prevention of injury, diagnosis and management of the acute and delayed-onset mustard gas ocular injuries. Considering the lack of CPGs for the prevention, diagnosis, and management of mustard gas-induced keratitis, these recommendations would be useful to prevent the serious ocular complications of mustard gas and standardize eye care services to the affected individuals.

  12. Early onset facioscapulohumeral dystrophy - a systematic review using individual patient data.

    Science.gov (United States)

    Goselink, Rianne J M; Voermans, Nicol C; Okkersen, Kees; Brouwer, Oebele F; Padberg, George W; Nikolic, Ana; Tupler, Rossella; Dorobek, Malgorzata; Mah, Jean K; van Engelen, Baziel G M; Schreuder, Tim H A; Erasmus, Corrie E

    2017-12-01

    Infantile or early onset is estimated to occur in around 10% of all facioscapulohumeral dystrophy (FSHD) patients. Although small series of early onset FSHD patients have been reported, comprehensive data on the clinical phenotype is missing. We performed a systematic literature search on the clinical features of early onset FSHD comprising a total of 43 articles with individual data on 227 patients. Additional data from four cohorts was provided by the authors. Mean age at reporting was 18.8 years, and 40% of patients were wheelchair-dependent at that age. Half of the patients had systemic features, including hearing loss (40%), retinal abnormalities (37%) and developmental delay (8%). We found an inverse correlation between repeat size and disease severity, similar to adult-onset FSHD. De novo FSHD1 mutations were more prevalent than in adult-onset FSHD. Compared to adult FSHD, our findings indicate that early onset FSHD is overall characterized by a more severe muscle phenotype and a higher prevalence of systemic features. However, similar as in adults, a significant clinical heterogeneity was observed. Based on this, we consider early onset FSHD to be on the severe end of the FSHD disease spectrum. We found natural history studies and treatment studies to be very scarce in early onset FSHD, therefore longitudinal studies are needed to improve prognostication, clinical management and trial-readiness. Copyright © 2017 Elsevier B.V. All rights reserved.

  13. Pre-dementia clinical stages in presenilin 1 E280A familial early-onset Alzheimer's disease: a retrospective cohort study.

    Science.gov (United States)

    Acosta-Baena, Natalia; Sepulveda-Falla, Diego; Lopera-Gómez, Carlos Mario; Jaramillo-Elorza, Mario César; Moreno, Sonia; Aguirre-Acevedo, Daniel Camilo; Saldarriaga, Amanda; Lopera, Francisco

    2011-03-01

    Mild cognitive impairment (MCI) and pre-MCI have been proposed as stages preceding Alzheimer's disease (AD) dementia. We assessed descendants of individuals with a mutation in presenilin 1 (PSEN1) that causes familial AD, with the aim of identifying distinct stages of clinical progression to AD dementia. We retrospectively studied a cohort of descendants of carriers of the PSEN1 E280A mutation. Pre-dementia cognitive impairment was defined by a score 2 SD away from normal values in objective cognitive tests, and was subdivided as follows: asymptomatic pre-MCI was defined by an absence of memory complaints and no effect on activities of daily living; symptomatic pre-MCI was defined by a score on the subjective memory complaints checklist higher than the mean and no effect on activities of daily living; and MCI was defined by a score on the subjective memory complaints checklist higher than the mean, with no effect on basic activities of daily living and little or no effect on complex daily activities. Dementia was defined according to the diagnostic and statistical manual of mental disorders, fourth edition. Reference mean scores were those of participants who did not carry the PSEN1 E280A mutation. We used the Turnbull survival analysis method to identify ages at onset of each stage of the disease. We measured the time from birth until onset of the three pre-dementia stages, dementia, and death, and assessed decline in cognitive domains for each stage. Follow-up was from Jan 1, 1995, to Jan 27, 2010. 1784 patients were initially identified, 449 of whom were PSEN1 E280A carriers who had complete clinical follow-up. Median age at onset was 35 years (95% CI 30-36) for asymptomatic pre-MCI, 38 years (37-40) for symptomatic pre-MCI, 44 years (43-45) for MCI, and 49 years (49-50) for dementia. The median age at death was 59 years (95% CI 58-61). The median time of progression from asymptomatic to symptomatic pre-MCI was 4 years (95% CI 2-8), from symptomatic pre-MCI to

  14. Early-onset Hirayama disease in a female

    Directory of Open Access Journals (Sweden)

    Matthias Baumann

    2017-01-01

    Full Text Available Objectives: Hirayama disease is a rare myelopathy, occurring predominantly in males with onset in the teens. Methods and results: Here, we report a young female patient who developed the first signs of Hirayama disease at 10.5 years of age. Prior to onset, she had experienced a growth spurt and grew about 8 cm. The disease progressed over 3 years and the typical clinical, electrophysiological, and neuroimaging signs of Hirayama disease were found. After this period and achievement of her final height, no further progression was noticed. Conclusions: This case highlights that pediatric neurologists should be aware of Hirayama disease, which can also occur in girls in early adolescence.

  15. Early-onset anorexia nervosa in girls with Asperger syndrome

    Directory of Open Access Journals (Sweden)

    Dudova I

    2015-07-01

    Full Text Available Iva Dudova, Jana Kocourkova, Jiri Koutek Department of Child Psychiatry, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic Abstract: Eating disorders frequently occur in conjunction with autism spectrum disorders, posing diagnostic and therapeutic difficulties. The comorbidity of anorexia nervosa and Asperger syndrome is a significant clinical complication and has been associated with a poorer prognosis. The authors are presenting the cases of an eleven-year-old girl and a five-and-a-half-year-old girl with comorbid eating disorders and Asperger syndrome. Keywords: eating disorders, early-onset anorexia nervosa, autism spectrum disorders, Asperger syndrome, diagnostics, therapy

  16. Nearwork in early-onset myopia.

    Science.gov (United States)

    Saw, Seang-Mei; Chua, Wei-Han; Hong, Ching-Ye; Wu, Hui-Min; Chan, Wai-Ying; Chia, Kee-Seng; Stone, Richard A; Tan, Donald

    2002-02-01

    To determine the relationship of nearwork and myopia in young elementary school-age children in Singapore. A cross-sectional study of 1005 school children aged 7 to 9 years was conducted in two schools in Singapore. Cycloplegic autorefraction, keratometry, and biometry measurements were performed. In addition, the parents completed a detailed questionnaire on nearwork activity (books read per week, reading in hours per day and diopter hours [addition of three times reading, two times computer use, and two times video games use in hours per day]). Other risk factors, such as parental myopia, socioeconomic status, and light exposure history, were assessed. In addition to socioeconomic factors, several nearwork indices were associated with myopia in these young children. The multivariate adjusted odds ratio of higher myopia (at least -3.0 D) for children who read more than two books per week was 3.05 (95% confidence interval [CI], 1.80-5.18). However, the odds ratios of higher myopia for children who read more than 2 hours per day or with more than 8 diopter hours (1.50; 95% CI, 0.87-2.55 and 1.04; 95% CI, 0.61-1.78, respectively) were not significant, after controlling for several factors. Children aged 7 to 9 years with a greater current reading exposure were more likely to be myopic. This association of reading and myopia in a young age cohort was greater than the strength of the reading association generally found in older myopic subjects. Whether these results identify an association of early-onset myopia with nearwork activity or other potentially confounding factors is discussed.

  17. Attention deficit hyperactivity disorder symptoms mediate early-onset smoking

    NARCIS (Netherlands)

    Huizink, A.C.; Van Lier, P.A.C.; Crijnen, A.A.M.

    2009-01-01

    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

  18. Early onset pregnancy induced hypertension/eclampsia in Benin ...

    African Journals Online (AJOL)

    induced hypertension /eclampsia in a Nigerian tertiary hospital, and compare maternofetal outcome in early and late onset disease. : A retrospective study of all cases of early onset pregnancy induced hypertension/eclampsia seen over a five-year period in a tertiary hospital. : Severity of disease, rates of induction of labour, ...

  19. Maternal psychosocial outcome after early onset preeclampsia and preterm birth.

    NARCIS (Netherlands)

    Gaugler-Senden, I.P.; Duivenvoorden, H.J.; Filius, A.; de Groot, C.J.M.; Steegers, EA; Passchier, J.

    2012-01-01

    Objective.To evaluate the impact of severe, early onset preeclampsia on long-term maternal psychosocial outcome after preterm birth. Methods.Women with severe, early onset preeclampsia before 32 weeks' gestation (cases) admitted in a tertiary university referral center between 1993 and 2004, and

  20. Early onset neonatal sepsis in preterm premature rupture of membranes

    International Nuclear Information System (INIS)

    Ashraf, M.N.

    2015-01-01

    To determine the frequency of early onset neonatal sepsis in newborn with various duration of preterm premature rupture of membranes (PPROM). Study Design: Cross sectional study. Place and Duration of Study: Neonatal Intensive Care Unit Combined Military Hospital, Lahore from November 2009 to November 2010. Material and Methods: Neonates of singleton pregnancies complicated by preterm premature rupture of the membranes (PPROM) with delivery between 30 and 36 weeks gestation were included in the study. The overall frequency of neonatal sepsis was calculated on clinical and serological basis. Comparison of the frequency of sepsis among groups with varying duration of rupture of membranes was done. Results: Out of 164 babies, 84 (51.2%) were female and 80 (48.8%) were male. Mean maternal age was 23 years (range: 18-36 years). Mean gestational age was 33 weeks (range: 30-36 weeks). Sepsis was suspected in 41(25%) babies on clinical grounds. C-reactive protein was raised in 36 (22%) neonates. There was statistically insignificant difference between clinical versus serological diagnosis (p=0.515). Frequency of neonatal sepsis was significantly higher in mothers with longer duration of rupture of membrane (p < 0.001). Conclusion: Frequency of neonatal sepsis was observed to be 22%. PPROM is an important risk factor for early onset neonatal sepsis. (author)

  1. Early onset cannabis use and psychosocial adjustment in young adults.

    Science.gov (United States)

    Fergusson, D M; Horwood, L J

    1997-03-01

    The relationships between early onset (prior to 16 years) cannabis use and later psychosocial adjustment was examined in a birth cohort of New Zealand children studied to age 18 years. Early onset users had significantly higher rates of later substance use, juvenile offending, mental health problems, unemployment and school dropout. The linkages between early onset cannabis use and later outcomes were largely explained by two routes that linked cannabis use to later adjustment. First, those electing to use cannabis were a high risk population characterized by social disadvantage, childhood adversity, early onset behavioural difficulties and adverse peer affiliations. Secondly, early onset cannabis use was associated with subsequent affiliations with delinquent and substance using peers, moving away from home and dropping out of education with these factors in turn, being associated with increased psychosocial risk. The implications of these results are examined.

  2. Widespread disruption of functional brain organization in early-onset Alzheimer's disease.

    Directory of Open Access Journals (Sweden)

    Sofie M Adriaanse

    Full Text Available Early-onset Alzheimer's disease (AD patients present a different clinical profile than late-onset AD patients. This can be partially explained by cortical atrophy, although brain organization might provide more insight. The aim of this study was to examine functional connectivity in early-onset and late-onset AD patients. Resting-state fMRI scans of 20 early-onset (<65 years old, 28 late-onset (≥65 years old AD patients and 15 "young" (<65 years old and 31 "old" (≥65 years old age-matched controls were available. Resting-state network-masks were used to create subject-specific maps. Group differences were examined using a non-parametric permutation test, accounting for gray-matter. Performance on five cognitive domains were used in a correlation analysis with functional connectivity in AD patients. Functional connectivity was not different in any of the RSNs when comparing the two control groups (young vs. old controls, which implies that there is no general effect of aging on functional connectivity. Functional connectivity in early-onset AD was lower in all networks compared to age-matched controls, where late-onset AD showed lower functional connectivity in the default-mode network. Functional connectivity was lower in early-onset compared to late-onset AD in auditory-, sensory-motor, dorsal-visual systems and the default mode network. Across patients, an association of functional connectivity of the default mode network was found with visuoconstruction. Functional connectivity of the right dorsal visual system was associated with attention across patients. In late-onset AD patients alone, higher functional connectivity of the sensory-motor system was associated with poorer memory performance. Functional brain organization was more widely disrupted in early-onset AD when compared to late-onset AD. This could possibly explain different clinical profiles, although more research into the relationship of functional connectivity and cognitive

  3. Difference between early onset and late-onset pediatric ulcerative colitis.

    Science.gov (United States)

    Nambu, Ryusuke; Hagiwara, Shin-Ichiro; Kubota, Mitsuru; Kagimoto, Seiichi

    2016-09-01

    Early onset pediatric ulcerative colitis (EO-UC) is distinguished from late-onset pediatric ulcerative colitis (LO-UC) by the effects of genetic predisposition, but there have been few reports on the clinical features of EO-UC in Asia. To describe and compare the presentation and disease course of EO-UC (age range, 0-7 years) with those of LO-UC (age range, 8-15 years), we retrospectively analyzed 63 children with UC who had been diagnosed between January 2004 and March 2014 at Saitama Children's Medical Center in Japan. Ten patients (16%) had EO-UC, and 53 (84%) had LO-UC. All patients in the EO-UC group and 70% in the LO-UC group had pancolitis (P = 0.05). The period from onset to diagnosis was 9.0 ± 14.1 months for EO-UC and 2.6 ± 3.5 months for LO-UC (P UC than for LO-UC (50% vs 11%, respectively; P UC group, only one patient was treated with cytapheresis and none was treated with anti-tumor necrosis factor (TNF-α) antibodies. The EO-UC group had a higher incidence of pancolitis, longer diagnostic delay, and more extra-intestinal manifestations than the LO-UC group. Diagnosis and treatment may therefore be slightly more difficult for EO-UC than for LO-UC. © 2016 Japan Pediatric Society.

  4. Successful Scene Encoding in Presymptomatic Early-Onset Alzheimer's Disease.

    Science.gov (United States)

    Quiroz, Yakeel T; Willment, Kim Celone; Castrillon, Gabriel; Muniz, Martha; Lopera, Francisco; Budson, Andrew; Stern, Chantal E

    2015-01-01

    Brain regions critical to episodic memory are altered during the preclinical stages of Alzheimer's disease (AD). However, reliable means of identifying cognitively-normal individuals at higher risk to develop AD have not been established. To examine whether functional MRI can detect early functional changes associated with scene encoding in a group of presymptomatic presenilin-1 (PSEN1) E280A mutation carriers. Participants were 39 young, cognitively-normal individuals from an autosomal dominant early-onset AD kindred, located in Antioquia, Colombia. Participants performed a functional MRI scene encoding task and a post-scan subsequent memory test. PSEN1 mutation carriers exhibited hyperactivation within medial temporal lobe regions (hippocampus,parahippocampal formation) during successful scene encoding compared to age-matched non-carriers. Hyperactivation in medial temporal lobe regions during scene encoding is seen in individuals genetically-determined to develop AD years before their clinical onset. Our findings will guide future research with the ultimate goal of using functional neuroimaging in the early detection of preclinical AD.

  5. Childhood Onset Schizophrenia: Clinical Features, Course and Outcome

    Science.gov (United States)

    Sood, Mamta; Kattimani, Shivanand

    2008-01-01

    Schizophrenia in children is diagnosed by using adult criteria. Based on the age of onset, patients with childhood onset schizophrenia (COS) are subdivided into those with very early onset (before age 12-14 years) and those with early onset (between 14-17 years). The prevalence of COS is reported to be 1 in 10,000 before the age of 12 years;…

  6. Late Onset Streptococcus agalactiae Meningitis following Early Onset Septicemia: A Preventable Disease?

    Directory of Open Access Journals (Sweden)

    Kam Lun Hon

    2017-01-01

    Full Text Available We report a neonate who presented with early onset Streptococcus agalactiae or group B streptococcus (GBS septicemia within 24 hours of birth. After discharge at day 14, she went on to develop late onset GBS meningitis at 36 days of age. The infant was treated with intravenous antibiotics on both occasions and eventually discharged home with no apparent sequelae. We address issues associated with GBS infection in infancy including the demographics, risk factors, and the risk of late onset GBS meningitis following an early onset GBS infection. The major source of GBS in early onset GBS disease is maternal birth canal GBS colonization. On the other hand, nosocomial cross-infection is an important source of GBS in late onset disease. Penicillin remains the current treatment of choice for GBS infection. Given the rapid onset and progression within hours of birth and lack of an effective solution for preventing late onset GBS, administration of an effective GBS vaccine in pregnancy could provide a sensible and cost-effective solution in all settings.

  7. Early Onset Malignancies - Genomic Study of Cancer Disparities

    Science.gov (United States)

    The Early Onset Malignancies Initiative studies the genomic basis of six cancers that develop at an earlier age, occur in higher rates, and are typically more aggressive in certain minority populations.

  8. Genetics of Severe Early Onset Epilepsies

    Science.gov (United States)

    2017-08-24

    Epilepsy; Epileptic Encephalopathy; Ohtahara Syndrome; Infantile Spasms; Dravet Syndrome; Malignant Migrating Partial Epilepsy of Infancy; Early Myoclonic Epileptic Encephalopathy; PCDH19-related Epilepsy and Related Conditions

  9. Personality traits and personality disorders in early onset versus late onset major depression.

    Science.gov (United States)

    Ramklint, Mia; Ekselius, Lisa

    2003-06-01

    We aimed to determine the relationship between certain personality disorders and/or personality traits and early onset major depression. A total of 400 depressed primary care patients were assessed for personality disorders using the SCID screen and for personality traits using the Karolinska Scales of Personality (KSP) questionnaire. Early onset was defined as onset of the first episode before the age of 26. Logistic regressions were performed to reveal relationships after adjustment for sex, age and number of previous episodes. Both groups had a similar severity of current illness determined by the Montgomery-Asberg Depression Rating Scale. Those with an early onset presented with a more debilitating course, seen in the form of more depressive episodes and previous hospitalisations in spite of their younger age. Early onset was also an independent predictor for avoidant, borderline and paranoid personality disorders. It also predicted increased scores on the KSP scales Psychic anxiety, Psychasthenia, Muscular tension, Suspicion and Irritability, and decreased Socialisation. The evaluation was performed as a self-assessment, subjects had a superimposed major depressive episode when assessed, and subgroups of individuals were not eligible. Early onset major depression is a predictor for personality pathology and deviant personality traits. A better understanding of the interplay between genetics and environment that underlies this phenomenon will help to improve the long-term course in afflicted individuals.

  10. Early- versus Late-Onset Alzheimer’s Disease—Differences in Functional Impairment.

    OpenAIRE

    Wattmo, Carina; Wallin, Åsa

    2016-01-01

    Background: Persons with clinical onset of Alzheimer’s disease (AD) before 65 years of age are diagnosed with early-onset AD (EOAD). The prevalence of EOAD is low, but varies among studies from 6% to 16%. Most individuals with EOAD are still working, have an active social life, and might have children living at home. Therefore, the consequences of being diagnosed early with a disease that implies progressive deterioration of cognitive performance and activities of daily living (ADL), and pers...

  11. Association of brain-derived neurotrophic factor (BDNF) Val66Met polymorphism with early-onset bipolar disorder.

    Science.gov (United States)

    Nassan, Malik; Croarkin, Paul E; Luby, Joan L; Veldic, Marin; Joshi, Paramjit T; McElroy, Susan L; Post, Robert M; Walkup, John T; Cercy, Kelly; Geske, Jennifer R; Wagner, Karen D; Cuellar-Barboza, Alfredo B; Casuto, Leah; Lavebratt, Catharina; Schalling, Martin; Jensen, Peter S; Biernacka, Joanna M; Frye, Mark A

    2015-09-01

    Brain-derived neurotrophic factor (BDNF) Val66Met (rs6265) functional polymorphism has been implicated in early-onset bipolar disorder. However, results of studies are inconsistent. We aimed to further explore this association. DNA samples from the Treatment of Early Age Mania (TEAM) and Mayo Clinic Bipolar Disorder Biobank were investigated for association of rs6265 with early-onset bipolar disorder. Bipolar cases were classified as early onset if the first manic or depressive episode occurred at age ≤19 years (versus adult-onset cases at age >19 years). After quality control, 69 TEAM early-onset bipolar disorder cases, 725 Mayo Clinic bipolar disorder cases (including 189 early-onset cases), and 764 controls were included in the analysis of association, assessed with logistic regression assuming log-additive allele effects. Comparison of TEAM cases with controls suggested association of early-onset bipolar disorder with the rs6265 minor allele [odds ratio (OR) = 1.55, p = 0.04]. Although comparison of early-onset adult bipolar disorder cases from the Mayo Clinic versus controls was not statistically significant, the OR estimate indicated the same direction of effect (OR = 1.21, p = 0.19). When the early-onset TEAM and Mayo Clinic early-onset adult groups were combined and compared with the control group, the association of the minor allele rs6265 was statistically significant (OR = 1.30, p = 0.04). These preliminary analyses of a relatively small sample with early-onset bipolar disorder are suggestive that functional variation in BDNF is implicated in bipolar disorder risk and may have a more significant role in early-onset expression of the disorder. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  12. Demographic, clinical, and laboratory features of Turkish patients with late onset ankylosing spondylitis

    Directory of Open Access Journals (Sweden)

    Ahmet Karaarslan

    2015-07-01

    Full Text Available Ankylosing spondylitis (AS is a chronic inflammatory disease, which typically begins in early decades of life with primarily axial joints involvement. This disease rarely affects patients older than 50 years of age. The aim of this study was to compare and evaluate the demographic, clinical, and laboratory features of late onset and early onset AS patients who were followed up in a single rheumatology center. A total of 339 patients who have been diagnosed with AS according to modified New York criteria were included in the study. The patients whose initial symptoms were observed after 50 years of age were accepted as late onset AS. Out of 339 patients, 27 (7.9% were diagnosed as late onset AS and 312 (92.3% patients were evaluated as early onset AS. Of 27 late onset patients, 10 were male and 17 were female. Delay in the diagnosis was 5.8 years for early onset AS, while it was 3.8 years for late onset AS (p = 0.001. Higher levels of acute phase reactants and more methotrexate (MTX use were detected in early onset AS patients compared to late onset AS (p = 0.001, p = 0.007, respectively. Statistically, there was no difference between these two groups, with regard to disease clinical activity indexes, anthropometric measurement parameters, uveitis and peripheral joint involvement. In this study, we showed that early and late onset AS patients may present with different clinical, genetic, and laboratory features. Late onset AS patients are characterized with lower human leukocyte antigen-B27 sequence, less inflammatory sign, delayed diagnosis, and less MTX and anti-tumor necrosis factor alpha drug usage.

  13. Early-Onset Friedreich's Ataxia With Oculomotor Apraxia.

    Science.gov (United States)

    Saghazadeh, Amene; Hafizi, Sina; Hosseini, Firouzeh; Ashrafi, Mahmoud Reza; Rezaei, Nima

    2017-02-01

    Friedreich's ataxia (FRDA) is a rare autosomal recessive spinocerebellar ataxia which in the majority of cases is associated with a GAA-trinucleotide repeat expansion in the first intron of Frataxin gene located on chromosome 9. The clinical features include progressive gait and limb ataxia, cerebellar dysarthria, neuropathy, optic atrophy, and loss of vibration and proprioception. Ataxia with ocular motor apraxia type 1 (AOA1) is another autosomal recessive cerebellar ataxia which is associated with oculomotor apraxia, hypoalbuminaemia, and hypercholesterolemia. Here we describe two siblings (13- and 10-year-old) display overlapping clinical features of both early-onset FRDA and AOA1. Almost all of laboratory test (including urinary analysis/culture, biochemistry, peripheral blood smear, C-reactive protein level, erythrocyte sedimentation rate-1h) results were within the normal range for both patients. Due to the normal laboratory test results; we concluded that the diagnosis was more likely to be FRDA than AOA1. Therefore, neurologists should bear in mind that clinical presentations of FRDA may vary widely from the classical phenotype of gait and limb ataxia to atypical manifestations such as oculomotor apraxia.

  14. Differences between early and late-onset Alzheimer's disease in neuropsychological tests.

    Directory of Open Access Journals (Sweden)

    Francisca eSá

    2012-05-01

    Full Text Available Although patients with Alzheimer disease (AD share clinical and histological features regardless of age of onset, the hypothesis that early-onset AD constitutes a distinct subgroup prevails. Some authors suggest that early attention or language impairment constitute patterns of differentiation in terms of neuropsychological profile. However, investigations are not consensual in terms of cognitive domains affected in each group.Aim: To investigate whether there is early neuropsychological difference between two types of AD using the conventional dividing line of 65 years.Methods: We evaluated the results obtained in the Mini-Mental State Examination (MMSE and in a comprehensive neuropsychological battery – Battery of Lisbon for the Assessment of Dementia (BLAD, at a Dementia clinic in the University Hospital of Coimbra and a Memory Clinic. Consecutive patients with a clinical probable diagnosis of mild to moderate AD, using standard criteria (DSMIV and NINCDS-ADRDA, were selected. Statistical analysis was performed using Qui-square and U-Mann-Whitney, for categorical and non-categorical variables.Results: The sample included 280 patients: 109 with early-onset AD and 171 with a late-onset form. Groups were comparable in gender, education, severity of disease and MMSE. In BLAD, the early onset group had lower scores in Naming (p=0,025, Right-Left Orientation (p=0,029 and Praxis (p=0,001, and better performances in Orientation (p=0,001 and Visual Memory (p=0,022. After application of Bonferroni correction for multiple comparisons only Praxis and Orientation could differentiate the two groups.Discussion: The results are suggestive of dissociated profiles between early and late-onset AD. Younger patients have a major impairment in Praxis and a tendency for a great impairment in neocortical temporal functions. Late-onset form had a tendency for worse performances in Visual Memory and Orientation, suggesting a more localized disease to the limbic

  15. Prediction of complications in early-onset pre-eclampsia (PREP): development and external multinational validation of prognostic models

    NARCIS (Netherlands)

    Thangaratinam, Shakila; Allotey, John; Marlin, Nadine; Dodds, Julie; Cheong-See, Fiona; von Dadelszen, Peter; Ganzevoort, Wessel; Akkermans, Joost; Kerry, Sally; Mol, Ben W.; Moons, Karl G. M.; Riley, Richard D.; Khan, Khalid S.; Sundararajah, Raajkumar; Nejad, Avideah; Khan, Rehan; Burrell, Celia; Gupta, Manish; Oon, Vincent; Kadir, Rezan; Ramsey-Marcelle, Zeudi; Page, Louise; Thilaganathan, Baskaran; Martin, Bill; Bakour, Shagaf Haj; Morsi, Hassan; Churchill, David; O'Mahony, Fidelma; Powell, Karen; Srinivasan, Jayasree; Mohajer, Michele; Quenby, Siobhan; Thirumalaikumar, Lakshmi; Konje, Justin; Thornton, Jim; Bugg, George; Mackenzie, Shonag; Ullal, Aarti; Smith, Marie; Arya, Rita; Cunnigham, Simon; Walker, James; Simpson, Nigel; Page, Joanne; Oxby, Claire; Watkins, Karen; Tuffnell, Derek; Bober, S.; Wijesiriwardana, A.; Brandon, Helene; El-Badawy, Saif; Brigham, Sara; Shorinola, Lanre; Khunda, Aethele; Kalla, Shaku; Agha, Mohammed M. Abdullah; Poku, Stephen; Olawo, Ayo; Amu, Johnson; Banfield, Philip; Majoko, Franz; Alcide, Julia; Rajeswary, Jyothi; Salloum, Marwan; Rees, Alexandra; Oteri, Odiri; Ikhena, Sunday; Creswell, Janet; Dawood, Feroza; Agarwal, Umber

    2017-01-01

    Unexpected clinical deterioration before 34 weeks gestation is an undesired course in early-onset pre-eclampsia. To safely prolong preterm gestation, accurate and timely prediction of complications is required. Women with confirmed early onset pre-eclampsia were recruited from 53 maternity units in

  16. Incidence of early-onset dementia in Mar del Plata.

    Science.gov (United States)

    Sanchez Abraham, M; Scharovsky, D; Romano, L M; Ayala, M; Aleman, A; Sottano, E; Etchepareborda, I; Colla Machado, C; García, M I; Gonorazky, S E

    2015-03-01

    Early-onset dementia (EOD) is defined as dementia with onset before the age of 65 years. EOD is increasingly recognised as an important clinical and social problem with devastating consequences for patients and caregivers. Determine the annual crude incidence rate and the specific incidence rates by sex and age in patients with EOD, and the standardised rate using the last national census of the population of Argentina (NCPA), from 2010. Hospital Privado de Comunidad, Mar del Plata, Argentina, attends a closed population and is the sole healthcare provider for 17 614 people. Using the database pertaining to the Geriatric Care department, we identified all patients diagnosed with EOD between 1 January, 2005 and 31 December, 2011. EOD was defined as dementia diagnosed in patients younger than 65. The study period yielded 14 patients diagnosed with EOD out of a total of 287 patients evaluated for memory concerns. The crude annual incidence of EOD was 11 per 100 000/year (CI 95%: 6.25-19.1): 17 per 100 000 (CI 95%: 7.2-33.1) in men and 8 per 100 000 (CI 95%: 3.4-17.2) in women. We observed a statistically significant increase when comparing incidence rates between patients aged 21 to <55 years and ≥ 55 to <65 years (3 vs 22 per 100 000, P=.0014). The rate adjusted by NCPA census data was 5.8 cases of EOD habitants/year. This study, conducted in a closed population, yielded an EOD incidence rate of 11 per 100 000 inhabitants/year. To the best of our knowledge, this is the first prospective epidemiological study in Argentina and in Latin America. Copyright © 2013 Sociedad Española de Neurología. Published by Elsevier Espana. All rights reserved.

  17. Early-onset trichotillomania: A case report with dermoscopic findings

    Directory of Open Access Journals (Sweden)

    Nisha V Parmar

    2016-01-01

    Full Text Available Early-onset trichotillomania (TTM can be a challenging diagnosis as other common causes of childhood patchy alopecias such as alopecia areata and tinea capitis have to be excluded. We report a 3-year-old boy with TTM and dermoscopic findings.

  18. Molecular analysis of early onset Indonesian breast cancer

    NARCIS (Netherlands)

    Purnomosari, D.

    2006-01-01

    Breast cancer is a major health problem in Indonesia, especially among young women. Early onset breast cancer has been known as one of the indicators harboring germline BRCA1/2 mutation. Giving the fact that different BRCA1/2 mutations were found in different ethnic populations and no publications

  19. Neurocognition in Early-Onset Schizophrenia and Schizoaffective Disorders

    Science.gov (United States)

    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

    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…

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

    Science.gov (United States)

    McIntosh, David E.; Trotter, Jeffrey S.

    2006-01-01

    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…

  1. Predictors of neonatal outcome in early-onset placental dysfunction

    NARCIS (Netherlands)

    Baschat, Ahmet A.; Cosmi, Erich; Bilardo, Catarina M.; Wolf, Hans; Berg, Christoph; Rigano, Serena; Germer, Ute; Moyano, Dolores; Turan, Sifa; Hartung, John; Bhide, Amarnath; Müller, Thomas; Bower, Sarah; Nicolaides, Kypros H.; Thilaganathan, Baskaran; Gembruch, Ulrich; Ferrazzi, Enrico; Hecher, Kurt; Galan, Henry L.; Harman, Chris R.

    2007-01-01

    To identify specific estimates and predictors of neonatal morbidity and mortality in early onset fetal growth restriction due to placental dysfunction. Prospective multicenter study of prenatally diagnosed growth-restricted liveborn neonates of less than 33 weeks of gestational age. Relationships

  2. GRIN1 Mutations in Early-Onset Epileptic Encephalopathy

    Directory of Open Access Journals (Sweden)

    Wenjuan Chen

    2015-06-01

    Full Text Available Investigators from Yokohama City University and other medical centers in Israel and Japan reported mutations on N-methyl-D-aspartate (NMDA receptors subunit GRIN1 (GluN1 identified in patients with nonsyndromic intellectual disability and early-onset epileptic encephalopathy.

  3. Period of onset and lack of clinical manifestation of hepatotoxicity ...

    African Journals Online (AJOL)

    Aim: The period of onset of hepatotoxicity varies between cohorts as do their clinical manifestations. Clinical manifestations of hepatotoxicity that have been previously reported include fatal portal hypertension, dress syndrome, and lipodystrophy syndrome. The aim of this study was to determine the period of onset and ...

  4. Atypical antipsychotics in the treatment of early-onset schizophrenia

    Directory of Open Access Journals (Sweden)

    Hrdlicka M

    2015-04-01

    Full Text Available Michal Hrdlicka, Iva Dudova Department of Child Psychiatry, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic Abstract: Atypical antipsychotics (AAPs have been successfully used in early-onset schizophrenia (EOS. This review summarizes the randomized, double-blind, controlled studies of AAPs in EOS, including clozapine, risperidone, olanzapine, aripiprazole, paliperidone, quetiapine, and ziprasidone. No significant differences in efficacy between AAPs were found, with the exception of clozapine and ziprasidone. Clozapine demonstrated superior efficacy in treatment-resistant patients with EOS, whereas ziprasidone failed to demonstrate efficacy in the treatment of EOS. Our review also focuses on the onset of action and weight gain associated with AAPs. The data on onset of action of AAPs in pediatric psychiatry are scanty and inconsistent. Olanzapine appears to cause the most significant weight gain in patients with EOS, while ziprasidone and aripiprazole seem to cause the least. Keywords: early-onset schizophrenia, atypical antipsychotics, efficacy, onset of action, weight gain

  5. Toward a clinical definition of early osteoarthritis: onset of patient-reported knee pain begins on stairs. Data from the osteoarthritis initiative.

    Science.gov (United States)

    Hensor, Elizabeth M A; Dube, Bright; Kingsbury, Sarah R; Tennant, Alan; Conaghan, Philip G

    2015-01-01

    Early detection of osteoarthritis (OA) would increase the chances of effective intervention. We aimed to investigate which patient-reported activity is first associated with knee pain. We hypothesized that pain would occur first during activities requiring weight bearing and knee bending. Data were obtained from the Osteoarthritis Initiative (OAI), a multicenter, longitudinal prospective observational cohort of people who have or are at high risk of OA. Participants completed the Western Ontario and McMaster Universities Osteoarthritis Index (WOMAC; Likert scale) annually for up to 7 years. Rasch analysis was used to rank the WOMAC pain questions (activities) in order of affirmation as the pain score increased from 0. For each total WOMAC score category (0-20) we selected 25 individuals at random based on their maximum score across all visits. Fit to the Rasch model was assessed in this subset; stability of question ranking over successive visits was confirmed in the full OAI. WOMAC data on 4,673 people were included, with 491 selected for subset analysis. The subset data showed good fit to the Rasch model (χ(2) = 43.31, P = 0.332). In the full OAI, the "using stairs" question was the first to score points as the total pain score increased from 0 (baseline logit score ± 95% confidence interval -4.74 ± 0.07), then "walking" (-2.94 ± 0.07), "standing" (-2.65 ± 0.07), "lying/sitting" (-2.00 ± 0.08), and finally "in bed" (-1.32 ± 0.09). This ordering was consistent over successive visits. Knee pain is most likely to first appear during weight-bearing activities involving bending of the knee, such as using stairs. First appearance of this symptom may identify a group suitable for early intervention strategies. © 2015 The Authors. Arthritis Care & Research is published by Wiley Periodicals, Inc. on behalf of the American College of Rheumatology.

  6. Early-onset androgenetic alopecia and endocrine disruptors

    Directory of Open Access Journals (Sweden)

    M. Guarrera

    2011-01-01

    Full Text Available Androgenetic alopecia (AGA is the most common acquired non scarring alopecia in humans caused by androgen hormones in the setting of a genetic predisposition. Usually AGA starts after puberty, but recently it has been observed also in adolescents. Their mean age was 13 years with a slight prevalence in males. The premature AGA may be caused by environmental, alimentary (meat and milk or cosmetics overexposure to sexual hormones or to endocrine disrupters (EDs. EDs are "exogenous substances that interfere with the synthesis, secretion, transport, binding, action, or elimination of natural hormones in the body causing adverse effects to human health" and they are able bind to the steroid hormone receptors. Early onset AGA may be linked to the well known phenomenon of early puberty caused in some cases by hormones contained in food or by environmental chemicals. Therefore it is likely that the EDs may play a role also in the pathogenesis of early-onset AGA.

  7. Psychosocial impact of early onset dementia among caregivers

    Directory of Open Access Journals (Sweden)

    Nathália R. S. Kimura

    2015-12-01

    Full Text Available Introduction: There is growing recognition of early onset dementia (EOD as a significant clinical and social problem because of its effects on physical and mental health of people with dementia (PWD and their caregivers. Objective: To analyze the psychosocial impact of EOD in family caregivers. Methods: The study design was qualitative. Nine EOD caregivers (7 women were recruited at a service for Alzheimer's disease and assessed using semi-structured interviews. Interpretative phenomenological analysis was used to analyze caregivers' reports. Results: Five themes emerged from the narratives: psychological and emotional impact; physical impact; financial and professional impact; social impact and need for support services. The majority of the caregivers of people with EOD perceived their emotional wellbeing as poor or extremely poor. Carers reported poor physical health, which tends to be longer-lasting than mental health problems. Two caregivers had to retire after the disclosure of the dementia diagnosis, and seven reduced their work loads because they had to look after PWD. Preserving the abilities of PWD is essential to maintain their self-esteem, dignity and sense of utility. For the caregivers, interventions and stimulating activities make PWD feel worthwhile and contribute to improving life. Conclusion: The caregivers of people with EOD assume the role of caregiver prematurely and need to balance this activity with other responsibilities. There is a need for more studies of EOD in order to improve understanding of the impact of this disease and to enable development of adequate services for PWD and their caregivers.

  8. Psychosocial impact of early onset dementia among caregivers.

    Science.gov (United States)

    Kimura, Nathália R S; Maffioletti, Virgínia L R; Santos, Raquel L; Baptista, Maria Alice Tourinho; Dourado, Marcia C N

    2015-01-01

    There is growing recognition of early onset dementia (EOD) as a significant clinical and social problem because of its effects on physical and mental health of people with dementia (PWD) and their caregivers. To analyze the psychosocial impact of EOD in family caregivers. The study design was qualitative. Nine EOD caregivers (7 women) were recruited at a service for Alzheimer's disease and assessed using semi-structured interviews. Interpretative phenomenological analysis was used to analyze caregivers' reports. Five themes emerged from the narratives: psychological and emotional impact; physical impact; financial and professional impact; social impact and need for support services. The majority of the caregivers of people with EOD perceived their emotional wellbeing as poor or extremely poor. Carers reported poor physical health, which tends to be longer-lasting than mental health problems. Two caregivers had to retire after the disclosure of the dementia diagnosis, and seven reduced their work loads because they had to look after PWD. Preserving the abilities of PWD is essential to maintain their self-esteem, dignity and sense of utility. For the caregivers, interventions and stimulating activities make PWD feel worthwhile and contribute to improving life. The caregivers of people with EOD assume the role of caregiver prematurely and need to balance this activity with other responsibilities. There is a need for more studies of EOD in order to improve understanding of the impact of this disease and to enable development of adequate services for PWD and their caregivers.

  9. Early and Late Onset Side Effects of Photodynamic Therapy

    Directory of Open Access Journals (Sweden)

    Francesco Borgia

    2018-01-01

    Full Text Available Photodynamic Therapy (PDT is a non-invasive treatment successfully used for neoplastic, inflammatory and infectious skin diseases. One of its strengths is represented by the high safety profile, even in elderly and/or immuno-depressed subjects. PDT, however, may induce early and late onset side effects. Erythema, pain, burns, edema, itching, desquamation, and pustular formation, often in association with each other, are frequently observed in course of exposure to the light source and in the hours/days immediately after the therapy. In particular, pain is a clinically relevant short-term complication that also reduces long-term patient satisfaction. Rare complications are urticaria, contact dermatitis at the site of application of the photosensitizer, and erosive pustular dermatosis. Debated is the relationship between PDT and carcinogenesis: the eruptive appearance of squamous cell carcinoma (SCC in previously treated areas has been correlated to a condition of local and/or systemic immunosuppression or to the selection of PDT-resistant SCC. Here we review the literature, with particular emphasis to the pathogenic hypotheses underlying these observations.

  10. Reliability and discriminant validity of ataxia rating scales in early onset ataxia

    NARCIS (Netherlands)

    Brandsma, Rick; Lawerman, Tjitske F.; Kuiper, Marieke J.; Lunsing, Roelineke J.; Burger, Huibert; Sival, Deborah A.

    AIM To determine whether ataxia rating scales are reliable disease biomarkers for early onset ataxia (EOA). METHOD In 40 patients clinically identified with EOA (28 males, 12 females; mean age 15y 3mo [range 5-34y]), we determined interobserver and intraobserver agreement (interclass correlation

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

    NARCIS (Netherlands)

    Tibi, L.; van Oppen, P.; Aderka, I.M.; van Balkom, A.J.L.M.; Batelaan, N.M.; Spinhoven, P.; Penninx, B.W.J.H.; Anholt, G.E.

    2013-01-01

    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

  12. Early Onset Sixth-Nerve Palsy with Eccentric Fixation.

    Science.gov (United States)

    Nanda, Kaajal D; Lacey, Eve; Liasis, Alki; Nischal, Ken K

    2017-01-01

    To report four cases of early onset sixth-nerve palsy all of whom had eccentric fixation. A retrospective case note review was undertaken of all cases presenting to the senior author's private and NHS practice with early onset sixth palsy between 2006 and 2012. As well as demographic information, details of ophthalmic, orthoptic, electrophysiological examinations, and radiological investigations that were extracted from the records. Four children with unilateral or asymmetric early onset sixth-nerve palsy were identified, of which three were congenital. All four had MRI and only one had a normal MRI. Age at presentation ranged from 14-42 months, but all four had marked esotropia and poor visual acuities in the worst affected eye with eccentric fixation, which became more easily or only noticeable after surgical correction. Three patients with congenital sixth-nerve palsy underwent vertical muscle transposition with Botulinum Toxin A (BTXA) to the ipsilateral medial rectus, and two of these patients also had Foster sutures to the transposed vertical muscles. The fourth patient had unilateral medial rectus recession and lateral rectus resection. The mean preoperative measurement was 55 Δ ET (range 50-60 Δ ), and the mean postoperative measurement was 11 Δ ET (range 16XT-25ET) at near, and 2 Δ XT (range 15XT-14ET) at distance. We speculate that early onset paralytic strabismus due to congenital sixth-nerve palsy results in an inability to cross fixate which results in the development of eccentric fixation. Attempts to use reverse occlusion to negate the eccentric fixation failed. We therefore recommend early surgery for this condition to avoid this sequelae. © 2017 Board of regents of the University of Wisconsin System, American Orthoptic Journal, Volume 67, 2017, ISSN 0065-955X, E-ISSN 1553-4448.

  13. A case of early onset epileptic encephalopathy with de novo mutation in SLC35A2: Clinical features and treatment for epilepsy.

    Science.gov (United States)

    Kimizu, Tomokazu; Takahashi, Yukitoshi; Oboshi, Taikan; Horino, Asako; Koike, Takayoshi; Yoshitomi, Shinsaku; Mori, Tatsuo; Yamaguchi, Tokito; Ikeda, Hiroko; Okamoto, Nobuhiko; Nakashima, Mitsuko; Saitsu, Hirotomo; Kato, Mitsuhiro; Matsumoto, Naomichi; Imai, Katsumi

    2017-03-01

    Mutations of SLC35A2 that encodes Golgi-localized Uridine diphosphate (UDP)-galactose transporter at Xp11.23 lead to congenital disorders of glycosylation (CDG). Although patients with CDG generally have diverse systemic symptoms, patients with a SLC35A2 mutation manifest predominantly disorders of the central nervous system (CNS). A female infant aged 12months was referred to our center because of intractable seizures. The patient was born with birth weight of 3228g after 40weeks of unremarkable gestation. At the age of 2months, she had partial seizures evolving to epileptic spasms. Her electroencephalogram showed hypsarrhythmia. Her seizures were refractory to antiepileptic drugs. At referral to our center at 12months, she had developmental delay (no head control), widely spaced inverted nipples, external strabismus, and bilateral heterochromia of irises. Blood examinations were normal. Brain magnetic resonance imaging findings included cerebral and cerebellar atrophy, thinning of the corpus callosum, and arachnoid pouch. Whole-exome sequencing detected a de novo frameshift mutation c.950delG (p.Gly317Alafs*32) at exon 4 in SLC35A2. Seizures subsided after the second adrenocorticotropic hormones (ACTH) therapy at 18months. At the age of 36months, although she had intellectual disability with no meaningful words, she was seizure-free and was able to sit without support and showed smiling face a lot. This report reviewed the clinical features of patients with a SLC35A2 mutation. ACTH therapy may be effective for refractory epilepsy in these patients. Copyright © 2016 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  14. Tourette syndrome and comorbid early-onset schizophrenia.

    Science.gov (United States)

    Kerbeshian, Jacob; Peng, Chun-Zi; Burd, Larry

    2009-12-01

    A study of the shared phenomenology between Tourette syndrome (TS) and schizophrenia. An illustrative case report is presented. We used a chart review of 399 clinically ascertained patients with TS to identify 10 cases meeting criteria for schizophrenia. From our 10 patients, salient clinical characteristics were then tabulated. We then extracted similar clinical characteristics from a previously published series of patients with comorbid TS and schizophrenia in order to combine cases and allow for a comparison between childhood-onset schizophrenia (COS), adolescent-onset schizophrenia (AdolOS), and adult-onset schizophrenia (AduOS) cases in these groups. We found 10 cases of schizophrenia (all were males) in the 399 TS patients for a prevalence rate of 2.5% (95% CI 0.96-4.04). Mean age of tic onset for TS diagnostic criteria ranged from 2-14 years with a mean of 8.2 years. The mean age of diagnosis for schizophrenia was 14.2 (range 9-23 years). We found six cases of schizophrenia with onset of positive psychotic symptoms by 13 years of age, two cases with onset after 13 years of age and before 18 years of age, and two cases with onset after 18 years of age. Attention deficit hyperactivity disorder was present at a higher rate (70%) than one would expect in a clinically ascertained group of patients with TS. Comparison between COS, AdolOS and AduOS in our pooled cases noted a sex bias skewed toward males. Catatonic symptoms may be more likely in child or adolescent onset cases and negative symptoms more likely in AduOS cases. The 2.5% prevalence of schizophrenia in our TS sample exceeds the 1% expected rate of schizophrenia in the general population (chi-square=9.14; P=.0025). The six cases of COS (before 13 years of age) exceeds the expected rate of 1-2 per 100,000 (chi-square=4499; P=.0001). The 752-fold increase in observed rates of comorbid TS and COS over expected rates suggests a role for unknown common underlying etiologic factors. Based on clinical features

  15. Early and phasic cortical metabolic changes in vestibular neuritis onset.

    Science.gov (United States)

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

    2013-01-01

    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

  16. Early and phasic cortical metabolic changes in vestibular neuritis onset.

    Directory of Open Access Journals (Sweden)

    Marco Alessandrini

    Full Text Available 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

  17. Cognitive Development in Infantile-Onset Pompe Disease Under Very Early Enzyme Replacement Therapy.

    Science.gov (United States)

    Lai, Chih-Jou; Hsu, Ting-Rong; Yang, Chia-Feng; Chen, Shyi-Jou; Chuang, Ya-Chin; Niu, Dau-Ming

    2016-12-01

    Most patients with infantile-onset Pompe disease die in early infancy before beginning enzyme replacement therapy, which has made it difficult to evaluate the impact of Pompe disease on cognitive development. Patients with infantile-onset Pompe disease can survive with enzyme replacement therapy, and physicians can evaluate cognitive development in these patients. We established an effective newborn screening program with quick clinical diagnostic criteria. Cognitive and motor development were evaluated using the Bayley Scales of Infant and Toddler Development-Third Edition at 6, 12, and 24 months of age. The patients who were treated very early demonstrate normal cognitive development with no significant change in cognition during this period (P = .18 > .05). The cognitive development was positively correlated with motor development (r = 0.533, P = .011). The results indicated that very early enzyme replacement therapy could protect cognitive development in patients with infantile-onset Pompe disease up to 24 months of age. © The Author(s) 2016.

  18. Exonic deletions of FXN and early-onset Friedreich ataxia.

    Science.gov (United States)

    Anheim, Mathieu; Mariani, Louise-Laure; Calvas, Patrick; Cheuret, Emmanuel; Zagnoli, Fabien; Odent, Sylvie; Seguela, Claire; Marelli, Cecilia; Fritsch, Marlène; Delaunoy, Jean-Pierre; Brice, Alexis; Dürr, Alexandra; Koenig, Michel

    2012-07-01

    incidence of cardiomyopathy was higher for patients with FAexdel (84%) than for patients with typical FA (68%). However, these differences were not significant, probably owing to the small size of the FAexdel group. The other extraneurological signs, such as scoliosis or diabetes mellitus, were particularly frequently observed in the FAexdel group. One patient presented at 9 years of age with severe angina and marked cardiomyopathy that confined her to a wheelchair. Three patients had disabling autonomic disturbances. It appears that exonic deletion significantly contributes to the clinical picture of patients with FA. Friedreich ataxia due to an exonic deletion mutation corresponds to an early onset and severe variant of FA. FXN should be investigated for exonic deletion in patients with early-onset FA in which only 1 GAA expansion without a point mutation is found. Patients with FAexdel have to be carefully observed using cardiological, orthopaedic, endocrinological, gastroenterological, and ophthalmological data. Friedreich ataxia due to an exonic deletion mutation should be suspected in young patients presenting with severe scoliosis.

  19. Is it still correct to differentiate between early and very early onset psychosis?

    NARCIS (Netherlands)

    Lin, Ashleigh; Wardenaar, Klaas J.; Pontillo, Maria; De Crescenzo, Franco; Mazzone, Luigi; Vicari, Stefano; Wood, Stephen J.; Beavan, Amanda; Armando, Marco

    Objective: It remains unclear whether very early onset psychosis (VEOP; Method: Participants were 88 (45 female, 43 male) children and adolescents with a recent onset of psychosis (age range=6.7-17.5 years; M=13.74, SD=2.37). Results: The VEOP group had significantly shorter duration of untreated

  20. Diagnosis of Late Stage, Early Onset, Small Fiber Polyneuropathy

    Science.gov (United States)

    2016-10-01

    polyneuropathy underlies some illnesses currently labeled as fibromyalgia. Pain 2013; 154:2310-2316. 2. Oaklander AL and...Patient Data Registry SFPN Small-fiber polyneuropathy USAMRMC US Army Medical Research and Materiel Command VA Veterans Administration VSO Veterans’ Service Organization WRIISC War-Related Illness and Injury Study Center ...AWARD NUMBER: W81XWH-15-1-0683 TITLE: Diagnosis of Late-Stage, Early-Onset, Small-Fiber Polyneuropathy PRINCIPAL INVESTIGATOR: Anne

  1. Maternal psychosocial outcome after early onset preeclampsia and preterm birth.

    Science.gov (United States)

    Gaugler-Senden, Ingrid P M; Duivenvoorden, Hugo J; Filius, Anika; De Groot, Christianne J M; Steegers, Eric A P; Passchier, Jan

    2012-03-01

    To evaluate the impact of severe, early onset preeclampsia on long-term maternal psychosocial outcome after preterm birth. Women with severe, early onset preeclampsia before 32 weeks' gestation (cases) admitted in a tertiary university referral center between 1993 and 2004, and women with preterm delivery without preeclampsia (controls), matched for age, parity, gestational age at delivery, ethnicity, and year of delivery. Women who consented to participation received three questionnaires in 2008 concerning depression (Zung Depression Scale: score range 0-20; 20 items with 2-point frequency scale: no = 0 and yes = 1), posttraumatic stress symptoms (Impact of Event Scale: score range 0-75; 15 items with 4-point frequency scale: not at all = 0, rarely = 1, sometimes = 3 and often = 5. Scores > 19 are regarded as high symptom levels), and social aspects (Social Readjustment Rating Scale: selection of six items concerning relational aspects with husband/partner, employer, or future family planning). Included in the study were 104 cases and 78 controls (response rate 79% and 58%, respectively). There was no difference in depression scores between cases (5.4 ± 4.0) and controls (5.4 ± 4.3). Patients with severe, early onset preeclampsia had significantly higher scores of posttraumatic stress symptoms (28.7 ± 8.6 vs. 25.7 ± 7.9). The majority of women among both cases and controls had high-posttraumatic stress symptom levels (88% vs. 79%). No differences could be found in relational aspects. Women with preterm birth due to severe, early onset preeclampsia experience more often posttraumatic stress symptoms on average 7 years after the pregnancy compared to women with preterm birth without preeclampsia.

  2. [Early-onset eating disorders: a review of the literature].

    Science.gov (United States)

    Poppe, I; Simons, A; Glazemakers, I; Van West, D

    2015-01-01

    The incidence of anorexia nervosa (AN) in adolescents has increased significantly in recent years. In several studies and in the media it has been suggested that AN has recently become more prevalent in the pre-adolescence. In view of the impact that an eating disorder can have on a child, it is important to diagnose and start treating the illness as early as possible. To review the literature on the characteristics and susceptibilities of patients with eating disorders because this information can be important for early diagnosis, prevention and identification of susceptibilities to early-onset eating disorders. We searched the literature for articles relating to early-onset eating disorders. We based our search on PubMed and on related relevant articles listed in the references. We selected 34 relevant articles published between 1987 and 2014. The literature lists characteristics and susceptibilities at various levels. Many types of factors are involved; examples of 'biological' factors are prior streptococcal infection, previous consultations with GP and a patients medical history; psychological factors include comorbidity, temperament, a particular personality profile, maturation-anxiety; environmental factors such as family history, family functioning and/or stressful events can play a role in the development of eating disorders. CONCLUSION The literature indicates that the early development of AN in children is related to a complex combination of etiological factors. However, there is a need for more research into this group of patients.

  3. Neuropsychological dysfunction in adults with early-onset obsessive-compulsive disorder: the search for a cognitive endophenotype

    Directory of Open Access Journals (Sweden)

    Jie Zhang

    2015-06-01

    Full Text Available Objective:Evidence suggests that early-onset obsessive-compulsive disorder (OCD is an etiologically distinct subtype of OCD. The objective of the present work was to search for neurocognitive endophenotypes of early-onset OCD based on assessments of attention, memory, and executive function in patients with the disorder and their unaffected siblings.Methods:We compared the performance of 40 adult patients with early-onset OCD, 40 of their unaffected siblings, and 40 unrelated healthy controls on a neuropsychological battery designed for this study. We searched for associations among test performance, demographic variables (age, sex and years of education and clinical symptoms of early-onset OCD.Results:Patients performed significantly worse than healthy controls on the Tower of Hanoi, and the Stroop and Wisconsin tests, indicating impairments in planning, mental flexibility and inhibitory control. The performance of the unaffected first-degree siblings of patients with early-onset OCD on the Stroop and Wisconsin tests also differed from that of healthy controls. Symptom severity in early-onset OCD was strongly correlated with performance on the Tower of Hanoi.Conclusions:Our findings support the existence of specific executive function deficits in patients with early-onset OCD. Relatives presented an intermediate phenotype between patients and controls, suggesting that executive functions such as mental flexibility and response inhibition may be considered candidate endophenotypes of early-onset OCD.

  4. Early onset epileptic encephalopathy or genetically determined encephalopathy with early onset epilepsy? Lessons learned from TSC

    NARCIS (Netherlands)

    Curatolo, P.; Aronica, E.; Jansen, A.; Jansen, F.; Kotulska, K.; Lagae, L.; Moavero, R.; Jozwiak, S.

    2016-01-01

    BACKGROUND: In tuberous sclerosis complex (TSC) a relationship has been shown between early and refractory seizures and intellectual disability. However, it is uncertain whether epilepsy in TSC is simply a marker in infants who are destined to develop an encephalopathic process or if seizures play a

  5. Early onset epileptic encephalopathy or genetically determined encephalopathy with early onset epilepsy? Lessons learned from TSC

    NARCIS (Netherlands)

    Curatolo, Paolo; Aronica, Eleonora; Jansen, Anna; Jansen, Floor; Kotulska, Katarzyna; Lagae, Lieven; Moavero, Romina; Jozwiak, Sergiusz

    2016-01-01

    In tuberous sclerosis complex (TSC) a relationship has been shown between early and refractory seizures and intellectual disability. However, it is uncertain whether epilepsy in TSC is simply a marker in infants who are destined to develop an encephalopathic process or if seizures play a causal role

  6. Differences in clinical features observed between childhood-onset versus adult-onset systemic lupus erythematosus

    Science.gov (United States)

    Bundhun, Pravesh Kumar; Kumari, Alka; Huang, Feng

    2017-01-01

    Abstract Background: Systemic lupus erythematosus (SLE) affects people in childhood (childhood onset) or in adulthood (adult onset). Observational studies that have previously compared childhood-onset versus adult-onset SLE were often restricted to 1 ethnic group, or to a particular area, with a small sample size of patients. We aimed to systematically compare childhood-onset versus adult-onset SLE through a meta-analysis. Methods: Electronic databases were searched for relevant publications comparing childhood-onset with adult-onset SLE. Adverse clinical features were considered as the endpoints. The Newcastle Ottawa Scale (NOS) was used to assess the methodological quality of the studies and RevMan software (version 5.3) was used to carry out this analysis whereby risk ratios (RRs) and 95% confidence intervals (95% CIs) were used as the statistical parameters. Results: A total number of 10,261 participants (1560 participants with childhood-onset SLE and 8701 participants with adult-onset SLE) were enrolled. Results of this analysis showed that compared with childhood-onset SLE, pulmonary involvement was significantly higher with adult-onset SLE (RR: 1.51, 95% CI: 1.18–1.93; P = .001), whereas renal involvement was significantly higher with childhood-onset SLE (RR: 0.65, 95% CI: 0.55–0.77; P = .00001). Raynaud phenomenon and photosensitivity were significantly higher in adult-onset SLE (RR: 1.29, 95% CI: 1.04–1.60; P = .02) and (RR: 1.08, 95% CI: 1.01–1.17; P = .03), respectively. Malar rash significantly favored adult-onset SLE (RR: 0.84, 95% CI: 0.75–0.94; P = .002). Childhood-onset SLE was associated with significantly higher hemolytic anemia, thrombocytopenia, leukocytopenia, and lymphopenia. Seizure and ocular manifestations were significantly higher with childhood-onset SLE (RR: 0.57, 95% CI: 0.47–0.70; P = .00001) and (RR: 0.34, 95% CI: 0.21–0.55; P = .00001), respectively, whereas pleuritis was significantly higher

  7. Clinical Characteristics of Pediatric-Onset and Adult-Onset Multiple Sclerosis in Hispanic Americans.

    Science.gov (United States)

    Langille, Megan M; Islam, Talat; Burnett, Margaret; Amezcua, Lilyana

    2016-07-01

    Multiple sclerosis can affect pediatric patients. Our aim was to compare characteristics between pediatric-onset multiple sclerosis and adult-onset multiple sclerosis in Hispanic Americans. This was a cross-sectional analysis of 363 Hispanic American multiple scleroses cases; demographic and clinical characteristics were analyzed. A total of 110 Hispanic patients presented with multiple sclerosis before age 18 and 253 as adult multiple sclerosis. The most common presenting symptoms for both was optic neuritis. Polyfocal symptoms, seizures, and cognitive symptoms at presentation were more prevalent in pediatric-onset multiple sclerosis (P ≤ .001). Transverse myelitis was more frequent in adult-onset multiple sclerosis (P ≤ .001). Using multivariable analysis, pediatric-onset multiple sclerosis (adjusted odds ratio, 0.3OR 95% confidence interval 0.16-0.71, P = .004) and being US born (adjusted odds ratio, 0.553, 95% confidence interval 0.3-1.03, P = .006) were less likely to have severe ambulatory disability. Results suggest that pediatric-onset multiple sclerosis and adult-onset multiple sclerosis in Hispanics have differences that could be important for treatment and prognosis. © The Author(s) 2016.

  8. Structural brain abnormalities in early onset first-episode psychosis

    DEFF Research Database (Denmark)

    Pagsberg, A K; Baaré, W F C; Raabjerg Christensen, A M

    2007-01-01

    BACKGROUND: Brain morphometry in children and adolescents with first-episode psychosis offer a unique opportunity for pathogenetic investigations. METHODS: We compared high-resolution 3D T1-weighted magnetic resonance images of the brain in 29 patients (schizophrenia, schizotypal disorder......, delusional disorder or other non-organic psychosis), aged 10-18 to those of 29 matched controls, using optimized voxel-based morphometry. RESULTS: Psychotic patients had frontal white matter abnormalities, but expected (regional) gray matter reductions were not observed. Post hoc analyses revealed...... already at illness onset in young schizophrenia spectrum patients, suggests aberrant neurodevelopmental processes in the pathogenesis of these disorders. Gray matter volume changes, however, appear not to be a key feature in early onset first-episode psychosis....

  9. Benign hereditary chorea of early onset maps to chromosome 14q

    NARCIS (Netherlands)

    B.B.A. de Vries (Bert); W.F.M. Arts (Willem Frans); G.J. Breedveld (Guido); J.J. Hoogeboom; M.F. Niermeijer (Martinus); P. Heutink (Peter)

    2000-01-01

    textabstractBenign 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

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

    OpenAIRE

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

    2009-01-01

    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.

  11. [46-OR] : Early and late onset preeclampsia versus small for gestational age risks in subsequent pregnancies

    NARCIS (Netherlands)

    Bernardes, Thomas P; Mol, Ben W; Ravelli, Anita C; van den Berg, Paul P; Stolk, Ronald P; Groen, Henk

    OBJECTIVES: Current literature suggests that early and late onset preeclampsia should be treated as distinct entities and that early onset preeclampsia shares pathophysiology aspects with intrauterine growth restriction. Our objective was to investigate whether 5th percentile small for gestational

  12. Cannabis use and age at onset of symptoms in subjects at clinical high risk for psychosis.

    Science.gov (United States)

    Dragt, S; Nieman, D H; Schultze-Lutter, F; van der Meer, F; Becker, H; de Haan, L; Dingemans, P M; Birchwood, M; Patterson, P; Salokangas, R K R; Heinimaa, M; Heinz, A; Juckel, G; Graf von Reventlow, H; French, P; Stevens, H; Ruhrmann, S; Klosterkötter, J; Linszen, D H

    2012-01-01

    Numerous studies have found a robust association between cannabis use and the onset of psychosis. Nevertheless, the relationship between cannabis use and the onset of early (or, in retrospect, prodromal) symptoms of psychosis remains unclear. The study focused on investigating the relationship between cannabis use and early and high-risk symptoms in subjects at clinical high risk for psychosis. Prospective multicenter, naturalistic field study with an 18-month follow-up period in 245 help-seeking individuals clinically at high risk. The Composite International Diagnostic Interview was used to assess their cannabis use. Age at onset of high risk or certain early symptoms was assessed retrospectively with the Interview for the Retrospective Assessment of the Onset of Schizophrenia. Younger age at onset of cannabis use or a cannabis use disorder was significantly related to younger age at onset of six symptoms (0.33 cannabis use preceded symptoms in most participants. Our results provide support that cannabis use plays an important role in the development of psychosis in vulnerable individuals. Cannabis use in early adolescence should be discouraged. © 2011 John Wiley & Sons A/S.

  13. INFLAMMATORY BOWEL DISEASE WITH A VERY EARLY ONSET

    Directory of Open Access Journals (Sweden)

    E. A. Kornienko

    2016-01-01

    Full Text Available Inflammatory bowel disease (Crohn's disease and ulcerative colitis has a tendency to manifest at earlier age. In childhood (< 6 years of age it has an especially severe course and is characterized by high grade inflammation, predominantly in the colon, by complication and extra-intestinal autoimmune injury. At younger age, Crohn's disease and ulcerative colitis require more aggressive treatment with frequently poor results. From genetic point of view, monogenic mutations controlling the immune response are characteristic for these diseases with an early onset; therefore, they are frequently associated with primary immunodeficiency. This implies various immunologic deficits, such as breakdown of the epithelial barrier, phagocytic dysfunction and dysfunction of Т and В lymphocytes and regulatory Т cells. Depending on this, a number of primary immunodeficiencies are identified associated with monogenic mutations of more than 50 genes. There some age-related specific features at manifestation. Thus, defects in interleukin 10 and FOXP3 manifest in the first months of life, whereas severe combined immunodeficiencies and phagocytosis defects become evident somewhat later. Virtually all 24 children with very early onset of inflammatory bowel disease, whom we examined, had immunologic defects and one child had a XIAP gene mutation. After identification of a specific immunologic defect, one can understand the mechanism of the disease and suspect one or another genetic defect with subsequent reasonable assessment of mutations in candidate genes. Detection of immunologic and genetic defects in children with a very early onset of inflammatory bowel disease allows for choosing an adequate strategy of non-conventional treatment that may differ depending on the mechanism of the disease.

  14. Suicide in later life: a comparison between cases with early-onset and late-onset depression.

    Science.gov (United States)

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

    2011-07-01

    Suicide 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). From a 10-year national clinical survey of all suicides in England and Wales (n=13066) we identified 549 LOD cases, and 290 EOD cases. EOD and LOD cases were compared by logistic regression adjusted for age at suicide. Method of suicide did not differ by age of onset of depression. LOD cases were significantly less likely to have a history of psychiatric admissions (OR=0.2 [0.1-0.3]), alcohol misuse (OR=0.6 [0.4-0.9]) and self-harm (0.6 [0.4-0.8]). LOD cases also had a lower prevalence of a psychiatric co-morbid diagnosis (0.6 [0.4-0.7]) and a lower prescription rate for psychotropic drugs other than antidepressants. Furthermore, the number of recent life-events was significantly higher (OR=1.4 [1.0-1.9]) in LOD while the frequency of recent self-harm was similar to EOD. Although our study suggests that psychopathology of suicide among elderly depressed patients differs between EOD and LOD, the final pathway (via recent self-harm) to suicide may be similar in up to a quarter of patients in both groups. Our results suggest that strategies to enhance coping abilities and provision of support to negate the effects of life-events might be especially important in the prevention of suicide in LOD. Copyright © 2011 Elsevier B.V. All rights reserved.

  15. Whole Exome Analysis of Early Onset Alzheimer’s Disease

    Science.gov (United States)

    2017-04-01

    Genomics (M.L.C., R.M.C., B.W.K., P.L.W., H.N.C., M.A.P.-V.), University of Miami Miller School of Medicine , FL; Mental Health & Behavioral Science Service...in AD there is a growing realization that the CDCV hypothesis is unlikely to explain all the genetic effect underlying AD. One alternative hypothesis...technology, small family aggregates and isolated cases, particularly those with an extreme phenotype of the disorder (such as early onset) can be used. Thus

  16. Early Onset Childhood Obesity and Risk of Metabolic Syndrome

    Centers for Disease Control (CDC) Podcasts

    2017-10-09

    This podcast features Lorena Pacheco, a doctoral student at the University of California San Diego and one of the winners of PCD’s 2017 Student Research Paper Contest. Lorena answers questions about her winning research, which focuses on the relationship between early onset obesity as a risk factor for increased metabolic syndrome in Chilean children.  Created: 10/9/2017 by Preventing Chronic Disease (PCD), National Center for Chronic Disease Prevention and Health Promotion (NCCDPHP).   Date Released: 10/9/2017.

  17. An analysis of expectant management in women with early-onset preeclampsia in China.

    Science.gov (United States)

    Chen, Q; Shen, F; Gao, Y F; Zhao, M

    2015-06-01

    Preeclampsia is a pregnancy-specific disorder and a leading cause of morbidity and mortality in both women and fetus. Although women with early severe preeclampsia are generally considered to require expedious delivery, expectant management may benefit for pregnancy prolongation. We performed a retrospective analysis of expectant management in early-onset preeclampsia, with or without fetal grow restriction (FGR) over a 6-year period, to investigate whether these women benefit from expectant management. Data including clinical parameters and liver and renal function from 186 nulliparous women with early-onset preeclampsia were analysed. In women with early-onset preeclampsia, 76.8% were delivered after 48 h and the median pregnancy prolongation was 8 days, whereas 23.2% were delivered within 48 h. There was no difference in maternal parameters, liver or renal functions between women in these two groups, regardless of the severity of preeclampsia. However, the stillbirth number was higher in preeclamptic women delivered after 48 h compared with those delivered within 48 h. Our study demonstrates that the decision for immediate delivery or expectant management was not associated with clinical parameter or laboratory biomarker of liver and renal function. However, the risk of stillbirth should still be taken into consideration when making the decision for immediate delivery or expectant management in the clinic.

  18. Synthetic Cannabinoids: Psychopharmacology, Clinical Aspects, Psychotic Onset.

    Science.gov (United States)

    Martinotti, Giovanni; Santacroce, Rita; Papanti, Duccio; Elgharably, Yasmine; Prilutskaya, Mariya; Corazza, Ornella

    2017-01-01

    Synthetic Cannabinoids (SC) are the widest and most diffused class of Novel Psychoactive Substances. The short- and long- term health risks associated with the consumption of SC are often unknown to both users and health professionals. This review aims to provide a synthesis of the most recent and relevant insights on the pharmacology, clinical and psychopathological aspects of SC. A structured search of two bibliographic databases (PubMed and Scopus) was undertaken according to inclusion/exclusion criteria. The following terms "synthetic cannabinoid*", "synthetic cannabimimetic*", "synthetic cannabis", "synthetic marijuana" and "Spice AND cannabinoid*" were used as search strings. 162 relevant results, mainly published in the past two years were revealed. Most results emerged for the keyword "synthetic cannabinoid*", followed by the combination "Spice* AND "cannabinoid*". Most papers were epidemiological, forensic, toxicologic, or analytical. The results of studies were systematized according their contribution to the comprehension of pharmacological, clinical and psychopathological effects of SC. Fifteen SC-related fatality cases were reviewed according to their histories, pathology and toxicology findings. The findings of this review confirm the importance of prompt and reliable information available for health professionals More specific analytic techniques and designed preventive strategies are required to face unprecedented SC challenge. Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.

  19. Glutathione S-Transferase Deletion Polymorphisms in Early-Onset Psychotic and Bipolar Disorders: A Case-Control Study.

    Science.gov (United States)

    Pejovic-Milovancevic, Milica M; Mandic-Maravic, Vanja D; Coric, Vesna M; Mitkovic-Voncina, Marija M; Kostic, Milutin V; Savic-Radojevic, Ana R; Ercegovac, Marko D; Matic, Marija G; Peljto, Amir N; Lecic-Tosevski, Dusica R; Simic, Tatjana P; Pljesa-Ercegovac, Marija S

    2016-08-01

    To examine glutathione S-transferase (GST) deletion polymorphisms in development of early-onset severe mental disorders, with the hypothesis that patients with GSTM1-null and GSTT1-null genotypes will develop psychotic disorders at a younger age. We identified GSTM1 and GSTT1 deletion polymorphisms by multiplex polymerase chain reaction (PCR) in 93 patients with early onset severe mental disorders and 278 control individuals. The diagnoses were confirmed by Schedule for Affective Disorders and Schizophrenia for School-Age Children-Present and Lifetime Version and Schedule for Affective Disorders and Schizophrenia-Life-Time Version (K-SADS-PL) interviews. Individuals with the GSTM1-null genotype were at 3.36-fold higher risk of developing early-onset severe mental disorders than carriers of a corresponding active genotype. The risk of those disorders was increased by 6.59-fold in patients with GSTM1-null/GSTT1-active genotype. Patients with the GSTM1-null genotype were at approximately 2-fold increased risk for developing early-onset schizophrenia-spectrum disorder (EOS), early-onset bipolar disorder (EOBD) with psychotic symptoms, or early-onset first-episode psychosis (EOFEP), compared with patients with the GSTM1-active genotype. The GSTM1-null genotype might be associated with higher risk for early onset severe mental disorders. © American Society for Clinical Pathology, 2016. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  20. Early onset scoliosis with intraspinal anomalies: management with growing rod.

    Science.gov (United States)

    Jayaswal, Arvind; Kandwal, Pankaj; Goswami, Ankur; Vijayaraghavan, G; Jariyal, Ashok; Upendra, B N; Gupta, Ankit

    2016-10-01

    To evaluate clinical and radiological outcomes of growing rod (GR) in the management of Early Onset Scoliosis (EOS) with intraspinal anomalies. The effect of repeated distractions following GR, in the presence of intraspinal anomalies has not been studied. During 2007-2012, 46 patients underwent fusionless surgery. Out of these 46 patients, 13 patients had one or more intraspinal anomalies. 11 patients had undergone prior neurosurgical procedure while 2 (filum terminale lipoma and syringomyelia) did not. A total of 88 procedures were conducted during the treatment period; 13 index surgeries, 74 distractions of GR and 1 unplanned surgery. The age at surgery was 6.8 ± 2.5 years (3.5-12 years). 11 patients had congenital scoliosis and 2 had idiopathic scoliosis. A total of 19 (41.30 %) intraspinal anomalies [Tethered Cord Syndrome (TCS) 08, Split Cord Malformation (SCM) 08, Syringomyelia 01, Meningomyelocele 01, Filum terminale Lipoma 01] were seen. The average lengthening procedures per patient were 5.7 (4-9) with distraction interval of 6.7 (6-7.25) months. Pre-operative Cobb angle was 78.50 ± 18.1 (54-114°) and improved to 53.10 ± 16.70 (36-84°) at final follow-up. A total of 15 complications related to implant (9), wound (2), anesthesia (2) and neurological (2) occurred in 7 patients. Among the two neurological complications, one patient sustained fall in the post-op period and reported to the emergency department with paraplegia and broken proximal screw. While other patient experienced MEP changes during index procedure. None of the patients had any neurological complications during repeated lengthening procedures. The most common cord anomalies associated with EOS in our study are TCS and SCM. Although presence of previous intraspinal anomaly does not seem to increase the incidence of neurological deficit, use of neuromonitoring is advisable for all index procedure and selected distractions. Level 4 (case series).

  1. Clinical features of catheter-related candidemia at disease onset.

    Science.gov (United States)

    Yoshino, Yusuke; Wakabayashi, Yoshitaka; Suzuki, Satoshi; Seo, Kazunori; Koga, Ichiro; Kitazawa, Takatoshi; Okugawa, Shu; Ota, Yasuo

    2014-11-01

    Early detection of catheter-related candidemia is necessary to ensure that patients receive prompt and appropriate treatment. The aim of the present case-control study is to investigate the clinical features of catheter-related candidemia at disease onset, so as to determine the clinical indications for empiric antifungal therapy. All 41 cases of catheter-related candidemia from September 2009 to August 2011 at a teaching hospital were included in the present study. To determine the characteristics that were risk factors for developing catheter-related candidemia, we compared all cases of catheter-related candidemia with all 107 cases of catheter-related blood stream infection (CRBSI) caused by non-Candida spp. In comparison with CRBSI due to non-Candida spp., the duration of catheter use was significantly longer in cases of catheter-related candidemia (13.9 ± 9.0 days vs. 23.2 ± 25.2 days). There was also a significant difference in the frequency of pre-antibiotic treatment between catheter-related candidemia and CRBSI due to non-Candida spp. (97.6% [40/41 cases] vs. 44.9% [48/107 cases]). Patients with catheter-related candidemia also had significantly more severe clinical statuses (measured using the Sepsis-related Organ Failure Assessment score) than patients with CRBSI due to non-Candida spp. (7.63 ± 3.65 vs. 5.92 ± 2.81). When compared to patients with CRBSI caused by non-Candida spp., patients with catheter-related candidemia had significantly more severe clinical backgrounds, longer duration of catheter use and more frequent prior administration of antibiotic agents.

  2. Alertness and Cognitive Control: Testing the Early Onset Hypothesis.

    Science.gov (United States)

    Schneider, Darryl W

    2017-11-20

    Previous research has revealed a peculiar interaction between alertness and cognitive control in selective-attention tasks: Congruency effects are larger on alert trials (on which an alerting cue is presented briefly in advance of the imperative stimulus) than on no-alert trials, despite shorter response times (RTs) on alert trials. One explanation for this finding is the early onset hypothesis, which is based on the assumptions that increased alertness shortens stimulus-encoding time and that cognitive control involves gradually focusing attention during a trial. The author tested the hypothesis in 3 experiments by manipulating alertness and stimulus quality (which were intended to shorten and lengthen stimulus-encoding time, respectively) in an arrow-based flanker task involving congruent and incongruent stimuli. Replicating past findings, the alerting manipulation led to shorter RTs but larger congruency effects on alert trials than on no-alert trials. The stimulus-quality manipulation led to longer RTs and larger congruency effects for degraded stimuli than for intact stimuli. These results provide mixed support for the early onset hypothesis, but the author discusses how data and theory might be reconciled if stimulus quality affects stimulus-encoding time and the rate of evidence accumulation in the decision process. (PsycINFO Database Record (c) 2017 APA, all rights reserved).

  3. Early-onset combined methylmalonic aciduria and homocystinuria: neuroradiologic findings.

    Science.gov (United States)

    Rossi, A; Cerone, R; Biancheri, R; Gatti, R; Schiaffino, M C; Fonda, C; Zammarchi, E; Tortori-Donati, P

    2001-03-01

    Combined methylmalonic aciduria and homocystinuria (MMA-HC) is caused by impaired hepatic conversion of dietary cobalamin to methylcobalamin and adenosylcobalamin, resulting in decreased activity of methylmalonyl-CoA mutase and methionine synthase. Patients with the early-onset variety present within 12 months of age with severe neurologic, hematologic, and gastrointestinal abnormalities. We describe the neuroradiologic features of early-onset MMA-HC and discuss related pathophysiological mechanisms. Twelve infants with hypotonia, failure to thrive, poor feeding, and hematologic abnormalities were diagnosed with MMA-HC on the basis of a typical plasmatic and urinary metabolic profile and enzyme activity in fibroblastic cultures. Complementation studies were performed in two cases, and yielded a CblC result. MR imaging was performed at presentation in four cases and later in the others. All patients showed prompt biochemical improvement with intramuscular hydroxocobalamin administration, and most had moderate neurologic improvement. Diffuse supratentorial white matter edema and dysmyelination was the typical MR picture at presentation, whereas white matter bulk loss characterized later stages of the disease. Nucleocapsular areas of gliosis were an additional finding in one case. One patient had tetraventricular hydrocephalus at presentation. White matter damage is probably caused by reduced methyl group availability and nonphysiological fatty acids toxicity, whereas focal gliosis results from homocysteine-induced toxicity to the endothelium. Hydrocephalus may result from diffuse intracranial extracerebral arterial stiffness, known as reduced arterial pulsation hydrocephalus. MR imaging features at presentation and at follow-up are nonspecific.

  4. Early-Onset Creutzfeldt-Jakob Disease Mimicking Immune-Mediated Encephalitis

    Directory of Open Access Journals (Sweden)

    Wietse A. Wiels

    2018-04-01

    Full Text Available ObjectivesThe objective of this study is to explore the clinical, radiological, and pathological manifestations of a rare subtype of prion disease and their implication for differential diagnosis in case of an early onset neuropsychiatric deterioration.MethodsWe discuss a patients’ clinical history, as well as the string of investigations and symptomatological evolution that finally led to a pathological diagnosis.ResultsOur patient had the extremely rare VV1 type sporadic Creutzfeldt-Jakob disease (sCJD. We explain the differential diagnosis of progressive encephalomyelitis with rigidity and myoclonus and its implications for treatment.ConclusionsCJD, especially the VV1 subtype, can present at an early age with an insidious psychiatric onset. Classical findings of prion disease—14-3-3 protein, PSWC on electroencephalography, and magnetic resonance imaging patterns—are not always present. The presence of neural autoantibodies does not always implicate pathogenicity in the presence of other neurological/neurodegenerative conditions.

  5. Persistent Negative Symptoms in First-Episode Psychosis: Early Cognitive and Social Functioning Correlates and Differences Between Early and Adult Onset.

    Science.gov (United States)

    Puig, Olga; Baeza, Immaculada; de la Serna, Elena; Cabrera, Bibiana; Mezquida, Gisela; Bioque, Miquel; Lobo, Antonio; González-Pinto, Ana; Parellada, Mara; Corripio, Iluminada; Vieta, Eduard; Bobes, Julio; Usall, Judith; Contreras, Fernando; Cuesta, Manuel J; Bernardo, Miquel; Castro-Fornieles, Josefina

    To characterize the early cognitive and social functioning characteristics of a sample of first-episode psychosis patients with and without persistent negative symptoms (PNS) and to examine the prevalence and cognitive and functional correlates of PNS in patients with early-onset versus adult-onset first-episode psychosis. Participants were 235 patients with first-episode psychosis (51 early-onset, 184 adult-onset) and 240 healthy controls from a multicenter longitudinal study (recruited between 2009 and 2011). Standard instruments were used to evaluate symptoms, cognition, and social functioning. Diagnoses were determined according to DSM-IV criteria. PNS proxy was derived from clinical assessments (Positive and Negative Syndrome Scale and Montgomery-Asberg Depression Scale) at 2-, 6-, and 12-month follow-up. Association tests were used to compare the prevalence of PNS in the early-onset versus adult-onset groups. Multivariate analysis of variance was used to examine differences in early cognitive and social functioning (at the 2-month assessment) between patients with and without PNS and between early-onset and adult-onset patients with PNS. Thirty-eight patients (16.2%) met criteria for PNS during the first year. This PNS group showed a selective deficit in executive functions and in global, community, and occupational functioning (P cognitive (P social deficits. There was an early, detectable, social and executive dysfunction associated with PNS in first-episode psychosis and a high risk of having PNS in early-onset first-episode psychosis, which in turn was associated with more widespread cognitive impairment. Specific therapeutic interventions for PNS in early-onset first-episode psychosis might be needed. © Copyright 2017 Physicians Postgraduate Press, Inc.

  6. Early- versus Late-Onset Fetal Growth Restriction Differentially Affects the Development of the Fetal Sheep Brain.

    Science.gov (United States)

    Alves de Alencar Rocha, Anna Karynna; Allison, Beth J; Yawno, Tamara; Polglase, Graeme R; Sutherland, Amy E; Malhotra, Atul; Jenkin, Graham; Castillo-Melendez, Margie; Miller, Suzanne L

    2017-01-01

    Fetal growth restriction (FGR) is a common complication of pregnancy, principally caused by suboptimal placental function, and is associated with high rates of perinatal mortality and morbidity. Clinical studies suggest that the time of onset of placental insufficiency is an important contributor towards the neurodevelopmental impairments that are evident in children who had FGR. It is however currently unknown how early-onset and late-onset FGR differentially affect brain development. The aim of this study was to examine neuropathology in early-onset and late-onset FGR fetal sheep and to determine whether they differentially alter brain development. We induced placental insufficiency and FGR via single umbilical artery ligation at either 88 days (early-onset) or 105 days (late-onset) of fetal sheep gestation (term is approx. 147 days), reflecting a period of rapid white matter brain development. Fetal blood samples were collected for the first 10 days after surgery, and all fetuses were sacrificed at 125 days' gestation for brain collection and subsequent histopathology. Our results show that early-onset FGR fetuses became progressively hypoxic over the first 10 days after onset of placental insufficiency, whereas late-onset FGR fetuses were significantly hypoxic compared to controls from day 1 after onset of placental insufficiency (SaO2 46.7 ± 7.4 vs. 65.7 ± 3.9%, respectively, p = 0.03). Compared to control brains, early-onset FGR brains showed widespread white matter injury, with a reduction in both CNPase-positive and MBP-positive density of staining in the periventricular white matter (PVWM), subcortical white matter, intragyral white matter (IGWM), subventricular zone (SVZ), and external capsule (p brains with reactive astrogliosis (GFAP-positive) in the IGWM and cortex (p brain development that principally mediates altered brain development associated with FGR. © 2017 S. Karger AG, Basel.

  7. Age of onset of trichotillomania symptoms: investigating clinical correlates.

    Science.gov (United States)

    Flessner, Christopher A; Lochner, Christine; Stein, Dan J; Woods, Douglas W; Franklin, Martin E; Keuthen, Nancy J

    2010-12-01

    Pathological hair-pulling with onset in very early childhood is thought to represent a different disorder from that with later onset. We examined whether there are differences between adult hair-pullers with very early onset (VEO, i.e., trichotillomania symptomatology. Participants with VEO (n = 76; 5%), EO (n = 1280; 80%), and LO (n = 248; 15%) symptoms of trichotillomania did not differ significantly from one another in terms of hair-pulling phenomenologies, comorbidity, functional impact, and perceived treatment response. However, hair-pulling sites varied across the groups; the VEO and EO groups were significantly more likely to pull eyelashes whereas the EO group was more likely to pull pubic hair. Study subjects had current hair-pulling, so biasing the sample to those with more enduring symptoms, despite differences in age of onset of initial pulling. The lack of significant differences found here does not support subtyping hair-pulling by age of onset in patients who present in adulthood.

  8. Functional neuroanatomical associations of working memory in early-onset Alzheimer's disease.

    Science.gov (United States)

    Kobylecki, Christopher; Haense, Cathleen; Harris, Jennifer M; Stopford, Cheryl L; Segobin, Shailendra H; Jones, Matthew; Richardson, Anna M T; Gerhard, Alexander; Anton-Rodriguez, José; Thompson, Jennifer C; Herholz, Karl; Snowden, Julie S

    2018-01-01

    To characterize metabolic correlates of working memory impairment in clinically defined subtypes of early-onset Alzheimer's disease. Established models of working memory suggest a key role for frontal lobe function, yet the association in Alzheimer's disease between working memory impairment and visuospatial and language symptoms suggests that temporoparietal neocortical dysfunction may be responsible. Twenty-four patients with predominantly early-onset Alzheimer's disease were clinically classified into groups with predominantly amnestic, multidomain or visual deficits. Patients underwent neuropsychological evaluation focused on the domains of episodic and working memory, T1-weighted magnetic resonance imaging and brain fluorodeoxyglucose positron emission tomography. Fluorodeoxyglucose positron emission tomography data were analysed by using a region-of-interest approach. Patients with multidomain and visual presentations performed more poorly on tests of working memory compared with amnestic Alzheimer's disease. Working memory performance correlated with glucose metabolism in left-sided temporoparietal, but not frontal neocortex. Carriers of the apolipoprotein E4 gene showed poorer episodic memory and better working memory performance compared with noncarriers. Our findings support the hypothesis that working memory changes in early-onset Alzheimer's disease are related to temporoparietal rather than frontal hypometabolism and show dissociation from episodic memory performance. They further support the concept of subtypes of Alzheimer's disease with distinct cognitive profiles due to prominent neocortical dysfunction early in the disease course. Copyright © 2017 John Wiley & Sons, Ltd. Copyright © 2017 John Wiley & Sons, Ltd.

  9. Early-onset acute kidney injury is a poor prognostic sign for allogeneic SCT recipients.

    Science.gov (United States)

    Shingai, N; Morito, T; Najima, Y; Kobayashi, T; Doki, N; Kakihana, K; Ohashi, K; Ando, M

    2015-12-01

    Acute kidney injury (AKI) following stem-cell transplantation (SCT) contributes to a poor prognosis, yet its impact may vary depending on the timing of AKI onset. A prospective cohort study was performed to understand the significance of the onset timing in 103 allogeneic SCT (allo-SCT) recipients. AKI prior to stem-cell engraftment was defined as early AKI and subsequently occurring AKI as late AKI. Propensity score (PS) for early AKI was calculated using a logistic regression model to reduce confounding effects related to differences in clinical background between the early and late AKI groups. The cumulative incidences of early and late AKI were 22.3% and 54.9%, respectively. Non-relapse mortality (NRM) was 39.1% and 7.0%, and overall survival (OS) was 56.5% and 90.9% in early and late AKI at 100 days after AKI, respectively (PSCT was 41.5% and 19.1% in early and late AKI, respectively (P=0.048). Logistic regression analysis adjusted for the PS showed that early AKI was significantly associated with OS (odds ratio (95% confidence interval); 4.63 (1.15-21.4), P=0.031) but with neither NRM (1.25 (0.28-5.33), P=0.766) nor CKD (1.85 (0.41-8.60), P=0.422). In conclusion, early AKI may portend a poor survival for allo-SCT recipients.

  10. Early-onset hypoparathyroidism and chronic keratitis revealing APECED.

    OpenAIRE

    Mezgueldi, E.; Bertholet-Thomas, A.; Milazzo, S.; Morris, M.; Bacchetta, J.; Fabien, N.; Cochat, P.; Weetman, A.P.; Kemp, E.H.; Belot, A.

    2015-01-01

    Key Clinical Message Early diagnosis of potentially life-threatening autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is crucial, but is often delayed due to the clinical heterogeneity of the disorder. Even in the absence of the classic disease triad of chronic mucocutaneous candidiasis, hypoparathyroidism, and adrenocortical insufficiency, a diagnosis of APECED should be considered in children who have hypoparathyroidism and chronic keratitis, with a past medical histo...

  11. Comparing Characteristics of Early-Onset Injection Drug Users to Those With Late-Onset Injection in Kermanshah, Iran.

    Science.gov (United States)

    Jorjoran Shushtari, Zahra; Noroozi, Alireza; Mirzazadeh, Ali; Ahounbar, Elahe; Hajbi, Ahmad; Najafi, Mohammad; Bazrafshan, Ali; Farhadi, Mohammad Hossin; Farhoudian, Ali; Higgs, Peter; Shahboulagh, Farahnaz Mohammadi; Waye, Katherine; Noroozi, Mehdi

    2017-05-12

    Characteristics and behaviors of early-onset injection drug users are under studied topics in Iran. This study aimed to identify and compare the demographic characteristics as well as the drug using behaviors of early-onset and late-onset injection drug users in Kermanshah, West Iran. In this cross-sectional study using snowball and convenience sampling, we recruited 450 people during the Fall of 2014 from two drop in centers in Kermanshah, Iran. We collected data through face-to-face interviews. Early-onset injection is defined as whether the person reported their first injection at 22 years of age or younger. Subsequently, late-onset injection is defined as 23 years of age or older. We compared the characteristics of the two groups through both univariate and multiple logistic analyses. Overall, 54% (CI 95%: 44.3%, 62.2%) were early injectors. After controlling for low socioeconomic status, initiation of drug use at a young age, multiple drug use and methamphetamine use were all significantly associated with a higher likelihood of early-onset injection. Additionally, early-onset injection was associated with recent syringe borrowing (OR = 2.6, p = 0.001), recent syringe lending (OR = 1.4, p = 0.01), recent cooker sharing (OR = 3.2, p = 0.01) and injecting two or more times a day (OR = 2.2, p = 0.04). Early-onset injectors were more likely to report a lower socioeconomic status, initiation of first drug use at a younger age, using methamphetamine alongside polydrug use, and engaging in higher risk taking behaviors like borrowing needles. With these associations, the study emphasizes the need for drug-prevention programs to focus on the transition to injection drug use at younger ages.

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

    NARCIS (Netherlands)

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

    2006-01-01

    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

  13. Structural brain abnormalities in early onset first-episode psychosis

    DEFF Research Database (Denmark)

    Pagsberg, A K; Baaré, W F C; Raabjerg Christensen, A M

    2007-01-01

    BACKGROUND: Brain morphometry in children and adolescents with first-episode psychosis offer a unique opportunity for pathogenetic investigations. METHODS: We compared high-resolution 3D T1-weighted magnetic resonance images of the brain in 29 patients (schizophrenia, schizotypal disorder, delusi...... already at illness onset in young schizophrenia spectrum patients, suggests aberrant neurodevelopmental processes in the pathogenesis of these disorders. Gray matter volume changes, however, appear not to be a key feature in early onset first-episode psychosis.......BACKGROUND: Brain morphometry in children and adolescents with first-episode psychosis offer a unique opportunity for pathogenetic investigations. METHODS: We compared high-resolution 3D T1-weighted magnetic resonance images of the brain in 29 patients (schizophrenia, schizotypal disorder......, delusional disorder or other non-organic psychosis), aged 10-18 to those of 29 matched controls, using optimized voxel-based morphometry. RESULTS: Psychotic patients had frontal white matter abnormalities, but expected (regional) gray matter reductions were not observed. Post hoc analyses revealed...

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

    Science.gov (United States)

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

    2013-11-01

    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 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.

  15. Early and Real-Time Detection of Seasonal Influenza Onset

    Science.gov (United States)

    Marques-Pita, Manuel

    2017-01-01

    Every year, influenza epidemics affect millions of people and place a strong burden on health care services. A timely knowledge of the onset of the epidemic could allow these services to prepare for the peak. We present a method that can reliably identify and signal the influenza outbreak. By combining official Influenza-Like Illness (ILI) incidence rates, searches for ILI-related terms on Google, and an on-call triage phone service, Saúde 24, we were able to identify the beginning of the flu season in 8 European countries, anticipating current official alerts by several weeks. This work shows that it is possible to detect and consistently anticipate the onset of the flu season, in real-time, regardless of the amplitude of the epidemic, with obvious advantages for health care authorities. We also show that the method is not limited to one country, specific region or language, and that it provides a simple and reliable signal that can be used in early detection of other seasonal diseases. PMID:28158192

  16. Early and Real-Time Detection of Seasonal Influenza Onset.

    Directory of Open Access Journals (Sweden)

    Miguel Won

    2017-02-01

    Full Text Available Every year, influenza epidemics affect millions of people and place a strong burden on health care services. A timely knowledge of the onset of the epidemic could allow these services to prepare for the peak. We present a method that can reliably identify and signal the influenza outbreak. By combining official Influenza-Like Illness (ILI incidence rates, searches for ILI-related terms on Google, and an on-call triage phone service, Saúde 24, we were able to identify the beginning of the flu season in 8 European countries, anticipating current official alerts by several weeks. This work shows that it is possible to detect and consistently anticipate the onset of the flu season, in real-time, regardless of the amplitude of the epidemic, with obvious advantages for health care authorities. We also show that the method is not limited to one country, specific region or language, and that it provides a simple and reliable signal that can be used in early detection of other seasonal diseases.

  17. Distinct 18F-AV-1451 tau PET retention patterns in early- and late-onset Alzheimer's disease.

    Science.gov (United States)

    Schöll, Michael; Ossenkoppele, Rik; Strandberg, Olof; Palmqvist, Sebastian; Jögi, Jonas; Ohlsson, Tomas; Smith, Ruben; Hansson, Oskar

    2017-09-01

    Patients with Alzheimer's disease can present with different clinical phenotypes. Individuals with late-onset Alzheimer's disease (>65 years) typically present with medial temporal lobe neurodegeneration and predominantly amnestic symptomatology, while patients with early-onset Alzheimer's disease (AV-1451 tau positron emission tomography and structural magnetic resonance imaging to explore whether early- and late-onset Alzheimer's disease exhibit differential regional tau pathology and atrophy patterns. Strong associations of lower age at symptom onset with higher 18F-AV-1451 uptake were observed in several neocortical regions, while higher age did not yield positive associations in neither patient group. Comparing patients with early-onset Alzheimer's disease with controls resulted in significantly higher 18F-AV-1451 retention throughout the neocortex, while comparing healthy controls with late-onset Alzheimer's disease patients yielded a distinct pattern of higher 18F-AV-1451 retention, predominantly confined to temporal lobe regions. When compared against each other, the early-onset Alzheimer's disease group exhibited greater uptake than the late-onset group in prefrontal and premotor, as well as in inferior parietal cortex. These preliminary findings indicate that age may constitute an important contributor to Alzheimer's disease heterogeneity highlighting the potential of tau positron emission tomography to capture phenotypic variation across patients with Alzheimer's disease. © The Author (2017). Published by Oxford University Press on behalf of the Guarantors of Brain.

  18. The unique experience of spouses in early-onset dementia.

    Science.gov (United States)

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

    2013-09-01

    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.

  19. Assessment, Management, and Health Implications of Early-Onset Preeclampsia.

    Science.gov (United States)

    Phillips, Cathi; Boyd, Margaret

    2016-01-01

    Early-onset preeclampsia is a serious condition of pregnancy with the potential for adverse maternal and fetal health outcomes. A strong body of evidence supports the need for postpartum follow-up and health counseling, because these women and their offspring are at risk for future cardiovascular disease; nurses play a key role in this education. An understanding of the diagnosis, risk screening for, pathogenesis, and management of severe preeclampsia and its sequelae, such as intrauterine growth restriction and pulmonary edema, enables nurses to develop a comprehensive plan of care that will support women and their families through this challenging and dynamic complication of pregnancy. © 2016 AWHONN, the Association of Women’s Health, Obstetric and Neonatal Nurses.

  20. High-Definition transcranial direct current stimulation in early onset epileptic encephalopathy: a case study.

    Science.gov (United States)

    Meiron, Oded; Gale, Rena; Namestnic, Julia; Bennet-Back, Odeya; David, Jonathan; Gebodh, Nigel; Adair, Devin; Esmaeilpour, Zeinab; Bikson, Marom

    2018-01-01

    Early onset epileptic encephalopathy is characterized by high daily seizure-frequency, multifocal epileptic discharges, severe psychomotor retardation, and death at infancy. Currently, there are no effective treatments to alleviate seizure frequency and high-voltage epileptic discharges in these catastrophic epilepsy cases. The current study examined the safety and feasibility of High-Definition transcranial direct current stimulation (HD-tDCS) in reducing epileptiform activity in a 30-month-old child suffering from early onset epileptic encephalopathy. HD-tDCS was administered over 10 intervention days spanning two weeks including pre- and post-intervention video-EEG monitoring. There were no serious adverse events or side effects related to the HD-tDCS intervention. Frequency of clinical seizures was not significantly reduced. However, interictal sharp wave amplitudes were significantly lower during the post-intervention period versus baseline. Vital signs and blood biochemistry remained stable throughout the entire study. These exploratory findings support the safety and feasibility of 4 × 1 HD-tDCS in early onset epileptic encephalopathy and provide the first evidence of HD-tDCS effects on paroxysmal EEG features in electroclinical cases under the age of 36 months. Extending HD-tDCS treatment may enhance electrographic findings and clinical effects.

  1. Correlates and prevalence of hypogonadism in patients with early- and late-onset type 2 diabetes.

    Science.gov (United States)

    Li, Y; Zhang, M; Liu, X; Cui, W; Rampersad, S; Li, F; Lin, Z; Yang, P; Li, H; Sheng, C; Cheng, X; Qu, S

    2017-07-01

    This study aims to compare the prevalence of hypogonadism between male patients with early-onset type 2 diabetes mellitus (T2DM) and late-onset type 2 diabetes. A total of 122 male patients with early-onset T2DM (diagnosis age ≤40 years) and 100 male patients with late-onset T2DM (diagnosis age >40 years) were recruited from our in-patient department between 1 January 2013 and 28 December 2015. Serum FSH, LH, testosterone, lipid profile, uric acid, HbA1c, and beta-cell function were determined in blood samples. The diagnosis of hypogonadism was based on the levels of LH, FSH, and total testosterone. The mean onset age was 29.86 ± 6.31 and 54.47 ± 9.97 years old in the early-onset group and late-onset group, respectively. Compared with late-onset T2DM, those with early-onset T2DM had a higher proportion of new-onset diabetes, were more likely to be obese, and had worse glycemic control, lipid control, and lower sex hormone-binding globulin (SHBG). The prevalence of hypogonadism was much higher in the early-onset group than in the late-onset group (48.0% vs. 26.7%, p hypogonadism in the early-onset group and late-onset group were 44.3% and 25.0%, respectively (p hypogonadism was higher in the patients with early-onset T2DM than that of late-onset T2DM. This prevalence might be attributable to greater obesity, worse lipid control, and lower SHBG levels in those patients. © 2017 American Society of Andrology and European Academy of Andrology.

  2. Hypothalamic-pituitary-adrenal axis activity and early onset of cannabis use

    NARCIS (Netherlands)

    Huizink, Anja C.; Ferdinand, Robert F.; Ormel, Johan; Verhulst, Frank C.

    2006-01-01

    Aims To identify early onset cannabis users by measuring basal hypothalamic-pituitary-adrenal (HPA) axis activity, which may be a risk factor for early onset substance use when showing low activity. Design In a prospective cohort study, adolescents who initiated cannabis use at an early age (9-12

  3. Analysis of the morbidity and associated factors of early onset post-stroke depression

    Directory of Open Access Journals (Sweden)

    Yu ZHANG

    2015-03-01

    Full Text Available Objective To investigate the morbidity and associated factors of early onset depression after acute ischemic stroke, in order to improve its diagnostic rate and cure rate.  Methods The depression symptoms of 150 patients with acute ischemic stroke were evaluated by using Hamilton Depression Rating Scale-17 (HAMD-17 2 weeks after onset. According to Diagnostic and Statistical Manual of Mental Disorders Fourth Edition (DSM-Ⅳ criteria, patients with HAMD-17 score ≥ 7 were diagnosed as post-stroke depression (PSD. Clinical data of those patients, including gender, age, education, laboratory indexes, predisposing factors, National Institute of Health Stroke Scale (NIHSS score, Trial of Org10172 in Acute Stroke Treatment (TOAST type, Oxfordshire Community Stroke Project (OCSP classification, and concurrent carotid artery stenosis were recorded. Univariate and multivariate Logistic regression analysis was used to investigate the related factors of PSD.  Results The morbidity of PSD in patients 2 weeks after stroke onset was 18% (27/150. Univariate and multivariate Logistic regression analysis showed triglyceride level (P = 0.042, neural function deficiency (P = 0.001 and concurrent carotid artery stenosis (P = 0.003 were independent risk factors for early onset PSD. Further subgroup analysis indicated concurrent carotid artery stenosis was the independent risk factor for PSD in non-minor stroke patients (P = 0.014. Conclusions Stroke patients with severe neurological deficits and carotid artery stenosis are susceptible to early onset PSD. DOI: 10.3969/j.issn.1672-6731.2015.03.007

  4. Effect of soothing-liver and nourishing-heart acupuncture on early selective serotonin reuptake inhibitor treatment onset for depressive disorder and related indicators of neuroimmunology: a randomized controlled clinical trial.

    Science.gov (United States)

    Liu, Yi; Feng, Hui; Mo, Yali; Gao, Jingfang; Mao, Hongjing; Song, Mingfen; Wang, Shengdong; Yin, Yan; Liu, Wenjuan

    2015-10-01

    To observe the effect of soothing-liver and nourishing-heart acupuncture on selective serotonin reuptake inhibitor (SSRIs) treatment effect onset in patients with depressive disorder and related indicators of neuroimmunology. Overall, 126 patients with depressive disorder were randomly divided into a medicine and acupuncture-medicine group using a random number table. Patients were treated for 6 consecutive weeks. The two groups were evaluated by the Montgomery-Asberg Depression Rating Scale (MADRS) and Side Effects Rating Scale (SERS) to assess the effect of the soothing-liver and nourishing-heart acupuncture method on early onset of SSRI treatment effect. Changes in serum 5-hydroxytryptamine (5-HT) and inflammatory cytokines before and after treatment were recorded and compared between the medicine group and the acupuncture-medicine group. The acupuncture-medicine group had significantly lower MADRS scores at weeks 1, 2, 4, and 6 after treatment compared with the medicine group (P 0.05). Anti-inflammatory cytokines IL-4 and IL-10 were significantly higher in the acupuncture-medicine group compared with the medicine group (P depressive disorder and can significantly reduce the adverse reactions of SSRIs. Moreover, acupuncture can enhance serum 5-HT and regulate the balance of pro-inflammatory cytokines and anti-inflammatory cytokines.

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

    Science.gov (United States)

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

    2012-12-01

    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.

  6. JUVENILE-ONSET SYSTEMIC LUPUS ERYTHEMATOSUS: CLINICAL FEATURES AND CURRENT DIAGNOSTIC APPROACHES

    Directory of Open Access Journals (Sweden)

    M. I. Kaleda

    2017-01-01

    Full Text Available Systemic lupus erythematosus (SLE is an autoimmune disease with various organs and systems involved in the pathological process, with an unpredictable course, a risk for life-threatening conditions, and an onset from childhood through adolescence in 10–20% of cases. The onset of SLE prior to adult age affects its clinical manifestations, course, and prognosis. Based on the data available in the literature, the paper analyzes the features of the onset and clinical presentations of SLE in children and adolescents and discusses the aspects of verifying its diagnosis, by taking into account the need to use early effective personalized therapy and to improve prognosis.

  7. Psychological differences between early- and late-onset psoriasis: a study of personality traits, anxiety and depression in psoriasis.

    Science.gov (United States)

    Remröd, C; Sjöström, K; Svensson, A

    2013-08-01

    Onset of psoriasis may occur at any age. Early negative experiences often influence personality development, and may lead to physical disease, anxiety and depression in adulthood. Knowledge about onset of psoriasis and psychopathology is limited. To examine whether patients with early-onset psoriasis differ psychologically from patients with late-onset psoriasis, regarding personality traits, anxiety and depression. A descriptive cross-sectional study was conducted among 101 consecutively recruited outpatients with psoriasis. A psychosocial interview was performed followed by self-assessment of validated questionnaires: Swedish Universities Scales of Personality (SSP), Spielberger State-Trait Anxiety Inventory and Beck Depression Inventory. Psoriasis severity was assessed by the Psoriasis Area and Severity Index. Patients with early-onset psoriasis (age personality traits: SSP-embitterment, -trait irritability, -mistrust and -verbal trait aggression. Our results indicate that early detection of psychological vulnerability when treating children and adolescents with psoriasis seems to be of great importance. Traits of psychological vulnerability and pessimistic personality traits were found to be significantly associated with the early onset of psoriasis, but not with disease duration in this study. These traits may be seen as a consequence of psoriasis, and/or as individual traits modulating and impairing clinical course and efforts to cope with psoriasis. © 2013 The Authors BJD © 2013 British Association of Dermatologists.

  8. Early onset diabetes-genetic and hormonal analysis in pakistan population

    International Nuclear Information System (INIS)

    Wahid, M.; Kamran, M.

    2016-01-01

    Background: Mitochondrial DNA mutation and hormonal imbalance is involved in the pathogenesis of early onset diabetes but data is lacking in Pakistani population. The study was planned to delineate the clinical presentation of early onset diabetes with possible hormonal and genetic etiological factors and aascertain the possible etiological role of insulin and glucagon in these patients either on oral hypoglycaemic or subcutaneous insulin therapy. Methods: Retrospective, analytical case control study with conventional sampling technique carried at Centre for Research in Experimental and Applied Medicine (CREAM) affiliated with the department of Biochemistry and Molecular Biology, Army Medical College Rawalpindi from Dec 2006 to July 2011. Study included the patients (20-35 years of age) with early onset diabetes on oral hypoglycemic (n=240), insulin therapy (n=280), and compared with non-diabetic healthy controls (n=150). A fragment surrounding tRNALeu (UUR) gene was amplified by AmpliTaq from mtDNA which was extracted from peripheral blood leucocytes. Then it was subjected to restriction endonucleases, ApaI for A3242G mutation and HaeIII for G3316A mutation detection. Plasma glucose, glycosylated Hb, osmolality, insulin and glucagon levels along with ABGs analysis was also done. Results: Non diabetic controls comprised of 51% males and 49% females, diabetics on oral hypoglycemic 60% males and 40 % females and on insulin therapy 54% males and 46% females. Insulin dependent diabetics had statistically significant hyperglucagonemia, acidemia and bicarbonate deficit. MtDNA A3242G and G3316A mutations were not detected. Conclusion: relative hyperglucagonemia and acidemia in Insulin dependent diabetics was a potent threat leading to DKA. The absence of two mtDNA mutations in ND1 gene rules out the possibility of involvement of these mutations in early onset diabetes in Pakistani population. (author)

  9. Early-onset arthritis in retired National Football League players.

    Science.gov (United States)

    Golightly, Yvonne M; Marshall, Stephen W; Callahan, Leigh F; Guskiewicz, Kevin

    2009-09-01

    Injury has been identified as a potential risk factor for osteoarthritis. However, no previous study has addressed playing-career injuries and subsequent osteoarthritis in a large sample of former athletes. The purpose of this study was to describe the prevalence and determinants of arthritis and osteoarthritis in retired professional football players. Self-reported arthritis prevalence and retrospectively-recalled injury history were examined in a cross-sectional survey of 2,538 retired football players. Football players reported a high incidence of injury from their professional playing days (52.8% reported knee injuries, 74.1% reported ligament/tendon injuries, and 14.2% reported anterior cruciate ligament tears). For those under 60 years, 40.6% of retired NFL players reported arthritis, compared with 11.7% of U.S. males (prevalence ratio = 3.5, 95% CI: 3.3 to 3.7). Within the retired NFL player cohort, osteoarthritis was more prevalent in those with a history of knee injury (prevalence ratio = 1.7, 95% CI: 1.5 to 1.9) and ligament/tendon injury (prevalence ratio = 1.6, 95% CI: 1.4 to 1.9). In males under the age of 60, arthritis is over 3 times more prevalent in retired NFL players than in the general U.S. population. This excess of early-onset arthritis may be due to the high incidence of injury in football.

  10. Early Onset Alzheimer’s Disease and Oxidative Stress

    Directory of Open Access Journals (Sweden)

    Marco Antonio Meraz-Ríos

    2014-01-01

    Full Text Available Alzheimer’s disease (AD is the most common cause of dementia in elderly adults. It is estimated that 10% of the world’s population aged more than 60–65 years could currently be affected by AD, and that in the next 20 years, there could be more than 30 million people affected by this pathology. One of the great challenges in this regard is that AD is not just a scientific problem; it is associated with major psychosocial and ethical dilemmas and has a negative impact on national economies. The neurodegenerative process that occurs in AD involves a specific nervous cell dysfunction, which leads to neuronal death. Mutations in APP, PS1, and PS2 genes are causes for early onset AD. Several animal models have demonstrated that alterations in these proteins are able to induce oxidative damage, which in turn favors the development of AD. This paper provides a review of many, although not all, of the mutations present in patients with familial Alzheimer’s disease and the association between some of these mutations with both oxidative damage and the development of the pathology.

  11. Sex-specific cognitive abnormalities in early-onset psychosis

    Directory of Open Access Journals (Sweden)

    Miguel Ruiz-Veguilla

    Full Text Available Objectives: Brain maturation differs depending on the area of the brain and sex. Girls show an earlier peak in maturation of the prefrontal cortex. Although differences between adult females and males with schizophrenia have been widely studied, there has been less research in girls and boys with psychosis. The purpose of this study was to examine differences in verbal and visual memory, verbal working memory, auditory attention, processing speed, and cognitive flexibility between boys and girls. Methods: We compared a group of 80 boys and girls with first-episode psychosis to a group of controls. Results: We found interactions between group and sex in verbal working memory (p = 0.04 and auditory attention (p = 0.01. The female controls showed better working memory (p = 0.01 and auditory attention (p = 0.001 than males. However, we did not find any sex differences in working memory (p = 0.91 or auditory attention (p = 0.93 in the psychosis group. Conclusions: These results are consistent with the presence of sex-modulated cognitive profiles at first presentation of early-onset psychosis.

  12. HLA region excluded by linkage analyses of early onset periodontitis

    Energy Technology Data Exchange (ETDEWEB)

    Sun, C.; Wang, S.; Lopez, N.

    1994-09-01

    Previous studies suggested that HLA genes may influence susceptibility to early-onset periodontitis (EOP). Segregation analyses indicate that EOP may be due to a single major gene. We conducted linkage analyses to assess possible HLA effects on EOP. Fifty families with two or more close relatives affected by EOP were ascertained in Virginia and Chile. A microsatellite polymorphism within the HLA region (at the tumor necrosis factor beta locus) was typed using PCR. Linkage analyses used a donimant model most strongly supported by previous studies. Assuming locus homogeneity, our results exclude a susceptibility gene within 10 cM on either side of our marker locus. This encompasses all of the HLA region. Analyses assuming alternative models gave qualitatively similar results. Allowing for locus heterogeneity, our data still provide no support for HLA-region involvement. However, our data do not statistically exclude (LOD <-2.0) hypotheses of disease-locus heterogeneity, including models where up to half of our families could contain an EOP disease gene located in the HLA region. This is due to the limited power of even our relatively large collection of families and the inherent difficulties of mapping genes for disorders that have complex and heterogeneous etiologies. Additional statistical analyses, recruitment of families, and typing of flanking DNA markers are planned to more conclusively address these issues with respect to the HLA region and other candidate locations in the human genome. Additional results for markers covering most of the human genome will also be presented.

  13. Spreading the Clinical Window for Diagnosing Fetal-Onset Hypogonadism in Boys

    Science.gov (United States)

    Grinspon, Romina P.; Loreti, Nazareth; Braslavsky, Débora; Valeri, Clara; Schteingart, Helena; Ballerini, María Gabriela; Bedecarrás, Patricia; Ambao, Verónica; Gottlieb, Silvia; Ropelato, María Gabriela; Bergadá, Ignacio; Campo, Stella M.; Rey, Rodolfo A.

    2014-01-01

    In early fetal development, the testis secretes – independent of pituitary gonadotropins – androgens and anti-Müllerian hormone (AMH) that are essential for male sex differentiation. In the second half of fetal life, the hypothalamic–pituitary axis gains control of testicular hormone secretion. Follicle-stimulating hormone (FSH) controls Sertoli cell proliferation, responsible for testis volume increase and AMH and inhibin B secretion, whereas luteinizing hormone (LH) regulates Leydig cell androgen and INSL3 secretion, involved in the growth and trophism of male external genitalia and in testis descent. This differential regulation of testicular function between early and late fetal periods underlies the distinct clinical presentations of fetal-onset hypogonadism in the newborn male: primary hypogonadism results in ambiguous or female genitalia when early fetal-onset, whereas it becomes clinically undistinguishable from central hypogonadism when established later in fetal life. The assessment of the hypothalamic–pituitary–gonadal axis in male has classically relied on the measurement of gonadotropin and testosterone levels in serum. These hormone levels normally decline 3–6 months after birth, thus constraining the clinical evaluation window for diagnosing male hypogonadism. The advent of new markers of gonadal function has spread this clinical window beyond the first 6 months of life. In this review, we discuss the advantages and limitations of old and new markers used for the functional assessment of the hypothalamic–pituitary–testicular axis in boys suspected of fetal-onset hypogonadism. PMID:24847309

  14. Sepsis calculator implementation reduces empiric antibiotics for suspected early-onset sepsis.

    Science.gov (United States)

    Achten, Niek B; Dorigo-Zetsma, J Wendelien; van der Linden, Paul D; van Brakel, Monique; Plötz, Frans B

    2018-02-18

    Significant overtreatment with antibiotics for suspected early onset sepsis (EOS) constitutes a persisting clinical problem, generating unnecessary risks, harms, and costs for many newborns. We aimed to study feasibility and impact of a sepsis calculator to help guide antibiotic for suspected EOS in a European setting. In this single-center study, the sepsis calculator was implemented as an addition to and in accordance with existing protocols. One thousand eight hundred seventy-seven newborns ≥ 35 weeks of gestational age were prospectively evaluated; an analogous retrospective control group (n = 2076) was used for impact analysis. We found that empirical treatment with intravenous antibiotics for suspected EOS was reduced from 4.8 to 2.7% after sepsis calculator implementation (relative risk reduction 44% (95% confidence interval 21.4-59.5%)). No evidence for changes in time to treatment start, treatment duration, or proven sepsis rates was found. Adherence to sepsis calculator recommendation was 91%. Pragmatic and feasible implementation of the sepsis calculator yields a 44% reduction of empirical use of antibiotics for EOS, without signs of delay or prolongation of treatment. These findings warrant a multicenter, nation-wide, randomized study evaluating systematic use of the sepsis calculator prediction model and its effects in clinical practice outside of the USA. What is known: • Significant overtreatment with antibiotics for suspected early-onset sepsis results in unnecessary costs, risks, and harms. • Implementation of the sepsis calculator in the USA has resulted in a significant decrease in empirical antibiotic treatment, without apparent adverse events. What is new: • Implementation of the sepsis calculator in daily clinical decision-making in a Dutch teaching hospital is feasible in conjunction with existing protocols, with high adherence. • Antibiotic therapy for suspected early-onset sepsis was reduced by 44% following implementation

  15. Early Onset Squamous Cell Carcinoma In A Case Of Lichen Planus

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    Singh Shri Nath

    1998-01-01

    Full Text Available Lichen planus, which is a very common condition, is being presented. However, the uncommon feature in this cases is its early onset and equally early development of squamous cell carcinoma on a lesion on the right thigh.

  16. Phenotype variability and early onset ataxia symptoms in spinocerebellar ataxia type 7: comparison and correlation with other spinocerebellar ataxias

    Directory of Open Access Journals (Sweden)

    Marcus Vinicius Cristino de Albuquerque

    2015-01-01

    Full Text Available The spinocerebellar ataxias (SCA are a group of neurodegenerative disorders characterized by heterogeneous clinical presentation. Spinocerebellar ataxia type 7 (SCA7 is caused by an abnormal CAG repeat expansion and includes cerebellar signs associated with visual loss and ophthalmoplegia. Marked anticipation and dynamic mutation is observed in SCA7. Moreover, phenotype variability and very early onset of symptoms may occur. In this article, a large series of Brazilian patients with different SCA subtypes was evaluated, and we compared the age of onset of SCA7 with other SCA. From the 26 patients with SCA7, 4 manifested their symptoms before 10-year-old. Also, occasionally the parents may have the onset of symptoms after their children. In conclusion, our study highlights the genetic anticipation phenomenon that occurs in SCA7 families. Patients with very early onset ataxia in the context of a remarkable family history, must be considered and tested for SCA7.

  17. DNAJC6 Mutations Associated with Early-Onset Parkinson's Disease

    NARCIS (Netherlands)

    S. Olgiati (Simone); M. Quadri (Marialuisa); M. Fang (Mingyan); J.P.M.A. Rood (Janneke P.M.A.); J.A. Saute (Jonas A.); H.F. Chien (Hsin Fen); C.G. Bouwkamp (Christian); J. Graafland (Josja); M. Minneboo (Michelle); G.J. Breedveld (Guido J.); J. Zhang (Jianguo); F.W. Verheijen (Frans W.); A.J.W. Boon (Agnita); A.J.A. Kievit (Anneke J.A.); L.B. Jardim (L.); W.J. Mandemakers (Wim); E.R. Barbosa (Egberto Reis); C.R.M. Rieder (Carlos); K.L. Leenders (Klaus L.); J. Wang (Jinxia); V. Bonifati (Vincenzo)

    2016-01-01

    markdownabstract_Objective_ DNAJC6 mutations were recently described in two families with autosomal recessive juvenile parkinsonism (onset age < 11), prominent atypical signs, poor or absent response to levodopa, and rapid progression (wheelchair-bound within ∼10 years from onset). Here, for the

  18. Distributional Cues and the Onset Bias in Early Word Segmentation

    Science.gov (United States)

    Babineau, Mireille; Shi, Rushen

    2014-01-01

    In previous infant studies on statistics-based word segmentation, the unit of statistical computation was always aligned with the syllabic edge, which had a consonant onset. The current study addressed whether the learning system imposes a constraint that favors word forms beginning with a consonant onset over those beginning with an onsetless…

  19. The affective dimension of early-onset psychosis and its relationship with suicide.

    Science.gov (United States)

    Sanchez-Gistau, Vanessa; Baeza, Inmaculada; Arango, Celso; González-Pinto, Ana; de la Serna, Elena; Parellada, Mara; Graell, Montserrat; Paya, Beatriz; Llorente, Cloe; Castro-Fornieles, Josefina

    2015-07-01

    The affective dimension has scarcely been studied in early-onset psychosis. Our aims were to investigate the prevalence and type of affective symptoms in the prodromal and acute phases of early-onset psychosis and to examine their relationship with suicide. We also sought to establish whether the presence of premorbid antecedents or the presence of affective symptoms during the prodromal and acute phase might predict a later diagnosis of bipolar disorder (BP) or schizophrenia (SZ). Participants were 95 youths, aged 9-17 years, experiencing a first episode of a psychotic disorder (FEP) according to DSM-IV criteria. Prodromal affective symptoms in the year prior to the onset of full-blown psychosis were assessed by means of the K-SADS. Affective symptoms during the acute episode were evaluated using the Hamilton Depression Rating Scale and the Young Mania Rating Scale. Suicidality was assessed during the acute episode and at 6 and 12 months. Half of the patients experienced affective symptoms during the prodrome, with depressive symptoms being the most frequently reported. During the acute episode, 23.2% presented depressive, 41.4% mixed and 18.9% manic symptoms. After logistic regression analysis, only the presence of depressive symptoms was significantly associated with suicidality during the 12 months following the FEP. Neither early premorbid antecedents nor the prevalence or type of affective symptoms during the FEP predicted a diagnosis of BP or SZ at 12 months. However, both depressive and manic prodromal symptoms were associated with a later diagnosis of BP. The FEP of both SZ and BP is preceded by an identifiable prodromal phase. Early detection programs should target young people at clinical risk for the extended psychosis phenotype. The high prevalence of affective symptoms during the early phases of psychosis may encourage clinicians to identify and treat them in order to prevent suicide behaviour. © 2014 Association for Child and Adolescent Mental

  20. Diagnostic Approach to Genetic Causes of Early-Onset Epileptic Encephalopathy.

    Science.gov (United States)

    Gürsoy, Semra; Erçal, Derya

    2016-03-01

    Epileptic encephalopathies are characterized by recurrent clinical seizures and prominent interictal epileptiform discharges seen during the early infantile period. Although epileptic encephalopathies are mostly associated with structural brain defects and inherited metabolic disorders, pathogenic gene mutations may also be involved in the development of epileptic encephalopathies even when no clear genetic inheritance patterns or consanguinity exist. The most common epileptic encephalopathies are Ohtahara syndrome, early myoclonic encephalopathy, epilepsy of infancy with migrating focal seizures, West syndrome and Dravet syndrome, which are usually unresponsive to traditional antiepileptic medication. Many of the diagnoses describe the phenotype of these electroclinical syndromes, but not the underlying causes. To date, approximately 265 genes have been defined in epilepsy and several genes including STXBP1, ARX, SLC25A22, KCNQ2, CDKL5, SCN1A, and PCDH19 have been found to be associated with early-onset epileptic encephalopathies. In this review, we aimed to present a diagnostic approach to primary genetic causes of early-onset epileptic encephalopathies. © The Author(s) 2015.

  1. Review article. Predicting disease onset in clinically healthy people

    Directory of Open Access Journals (Sweden)

    Zeliger . Harold I.

    2016-06-01

    Full Text Available Virtually all human disease is induced by oxidative stress. Oxidative stress, which is caused by toxic environmental exposure, the presence of disease, lifestyle choices, stress, chronic inflammation or combinations of these, is responsible for most disease. Oxidative stress from all sources is additive and it is the total oxidative stress from all sources that induces the onset of most disease. Oxidative stress leads to lipid peroxidation, which in turn produces Malondialdehyde. Serum malondialdehyde level is an additive parameter resulting from all sources of oxidative stress and, therefore, is a reliable indicator of total oxidative stress which can be used to predict the onset of disease in clinically asymptomatic individuals and to suggest the need for treatment that can prevent much human disease.

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

    Science.gov (United States)

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

    2010-01-01

    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…

  3. Early-onset preeclampsia : Constitutional factors and consequences for future pregnancy outcome and cardiovascular health

    NARCIS (Netherlands)

    van Rijn, B.B.

    2008-01-01

    In this thesis, maternal constitutional factors related to long-term cardiovascular health and subsequent pregnancy outcome in women with early-onset preeclampsia is addressed. Aims of the thesis: To evaluate subsequent pregnancy outcome in women with a first pregnancy complicated by early-onset

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

    NARCIS (Netherlands)

    Lynskey, M.T.; Vink, J.M.; Boomsma, D.I.

    2006-01-01

    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

  5. Gene mutation analysis of 175 Chinese patients with early-onset epileptic encephalopathy.

    Science.gov (United States)

    Zhang, Q; Li, J; Zhao, Y; Bao, X; Wei, L; Wang, J

    2017-05-01

    The aim of the study is to investigate the genetic characteristics and clinical features of a cohort of Chinese patients with early-onset epileptic encephalopathies (EOEEs). Targeted next-generation sequencing (NGS), focusing on 17 genes, was performed on 175 Chinese patients with EOEEs to screen gene mutations. The mutation rate was 32% (56/175). All mutations were de novo and heterozygous, including 41 novel and 15 reported mutations. Patients with cyclin-dependent kinase-like 5 (CDKL5) gene mutation accounted for the largest proportion, 13.1% (23/175). All patients with CDKL5 mutation presented severe psychomotor developmental delay and refractory seizures. The female patients presented obvious Rett-like features, which were not observed in male patients. Potassium channel, voltage-gated KQT-like subfamily Q, member 2(KCNQ2) gene mutations were detected in 13 patients. Patients with this mutation presented with early seizure onset within the first week after birth. Valproate (VPA), levetiracetam (LEV) and topiramate (TPM) were effective in most patients. Patients with specific gene mutations presented some unique clinical features, but not always. Many genes are involved in EOEEs. Targeted NGS showed a high diagnostic yield in patients with EOEEs. These findings provide useful insights for recommending treatment of gene-associated EOEEs using antiepileptic drugs. © 2016 The Authors. Clinical Genetics published by John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  6. Early gestational age at preeclampsia onset is associated with subclinical atherosclerosis 12 years after delivery.

    Science.gov (United States)

    Christensen, Martin; Kronborg, Camilla Skovhus; Carlsen, Rasmus Kirkeskov; Eldrup, Nikolaj; Knudsen, Ulla Breth

    2017-09-01

    Women with a history of preeclampsia have increased risk of cardiovascular disease later in life. However, it is unclear whether early gestational age at preeclampsia onset is associated with higher cardiovascular disease risk. This study aimed to test the association between gestational age at preeclampsia onset (including the early-onset/late-onset preeclampsia distinction) and subclinical atherosclerosis and arterial stiffness in age-matched women 12 years after index pregnancy. Eligible participants were identified in two Danish registries. Main outcome measures were carotid plaque presence, carotid intima-media thickness, aortic pulse wave velocity, and augmentation index adjusted for heart rate. Twenty-four women with previous early-onset preeclampsia, 24 with previous late-onset preeclampsia and 24 with previous normotensive pregnancies were included after matching on age (±2 years) and time since delivery (±1 year). In all outcome measures, the early-onset group had the highest percentage or mean value. In the adjusted analysis, the early-onset group significantly differed from the late-onset group in all outcome measures except aortic pulse wave velocity. The early-onset group also had significantly higher carotid intima-media thickness (average and left) compared with the normotensive group. Gestational age at preeclampsia onset as a continuous variable was significantly associated to both carotid plaque presence and carotid intima-media thickness (average and right). Gestational age at preeclampsia onset is negatively associated with markers of subclinical atherosclerosis 12 years after delivery. Potentially, gestational age at preeclampsia onset might be helpful in directing cardiovascular disease prevention after preeclampsia. © 2017 Nordic Federation of Societies of Obstetrics and Gynecology.

  7. Association Between Early-Onset Parkinson Disease and 22q11.2 Deletion Syndrome

    Science.gov (United States)

    Butcher, Nancy J.; Kiehl, Tim-Rasmus; Hazrati, Lili-Naz; Chow, Eva W. C.; Rogaeva, Ekaterina; Lang, Anthony E.; Bassett, Anne S.

    2015-01-01

    IMPORTANCE Clinical case reports of parkinsonism co-occurring with hemizygous 22q11.2 deletions and the associated multisystem syndrome, 22q11.2 deletion syndrome (22q11.2DS), suggest that 22q11.2 deletions may lead to increased risk of early-onset Parkinson disease (PD). The frequency of PD and its neuropathological presentation remain unknown in this common genetic condition. OBJECTIVE To evaluate a possible association between 22q11.2 deletions and PD. DESIGN, SETTING, AND PARTICIPANTS An observational study of the occurrence of PD in the world’s largest cohort of well-characterized adults with a molecularly confirmed diagnosis of 22q11.2DS (n = 159 [6 with postmortem tissue]; age range, 18.1–68.6 years) was conducted in Toronto, Ontario, Canada. Rare postmortem brain tissue from individuals with 22q11.2DS and a clinical history of PD was investigated for neurodegenerative changes and compared with that from individuals with no history of a movement disorder. MAIN OUTCOMES AND MEASURES A clinical diagnosis of PD made by a neurologist and neuropathological features of PD. RESULTS Adults with 22q11.2DS had a significantly elevated occurrence of PD compared with standard population estimates (standardized morbidity ratio = 69.7; 95% CI, 19.0–178.5). All cases showed early onset and typical PD symptom pattern, treatment response, and course. All were negative for family history of PD and known pathogenic PD-related mutations. The common use of antipsychotics in patients with 22q11.2DS to manage associated psychiatric symptoms delayed diagnosis of PD by up to 10 years. Postmortem brain tissue revealed classic loss of midbrain dopaminergic neurons in all 3 postmortem 22q11.2DS-PD cases. Typical α-synuclein–positive Lewy bodies were present in the expected distribution in 2 cases but absent in another. CONCLUSIONS AND RELEVANCE These findings suggest that 22q11.2 deletions represent a novel genetic risk factor for early-onset PD with variable neuropathological

  8. [A case of Neuro-Behçet's disease with early onset of bipolar mood disorder].

    Science.gov (United States)

    Nakano, Yuko; Hatanaka, Yuki; Ikebuchi, Emi; Shimizu, Teruo; Nanko, Shinichiro; Utsumii, Takeshi

    2004-01-01

    In this report, we describe a case of Neuro-Behçet's disease with early onset of bipolar mood disorder. A 53-year-old man with neuropathy including dysphasia and dyslalia developed bipolar mood disorder with anxiety, agitation, depressive mood, talkativeness, hyperkinesias, and appetite rise, and soon exhibited severe personality deterioration. Oral aphthae, cell proliferation and elevated IL-6 levels in spinal fluid, and the patient's clinical downhill course with remission and relapse in spite of good reaction to steroid preparation indicated the possibility of Neuro-Behçet's disease. Brain MRI showed clear swelling of the brain stem area, especially in the pons, in the active phase with low signal in T1-weighted images contrasting with clear high signal in T2-weighted images and FLAIR. At the time of remission, atrophy of the brain stem was shown. These findings were consistent with the view reported in recent years concerning the brain image of Neuro-Behçet's disease, which seemed to be useful for the differential diagnosis. This case manifested two outstanding clinical features. First, it showed bipolar mood swing or mixed state distinguishable from disinhibition or euphoria in deteriorated personality, which is common in this condition. A clear bipolar mood disorder has not been described until now in Neuro-Behçet's disease. Second, subclinical dysthymia or hypomanic phase occurred before clear onset of the disease. In Neuro-Behçet's disease, it is currently considered that psychiatric symptoms may appear in the early stage, but there is controversy as to whether they can precede the other symptoms. Our case indicated very early onset of psychiatric symptoms in this condition.

  9. Early- and late-onset Alzheimer disease: Are they the same entity?

    Science.gov (United States)

    Tellechea, P; Pujol, N; Esteve-Belloch, P; Echeveste, B; García-Eulate, M R; Arbizu, J; Riverol, M

    2018-05-01

    Early-onset Alzheimer disease (EOAD), which presents in patients younger than 65 years, has frequently been described as having different features from those of late-onset Alzheimer disease (LOAD). This review analyses the most recent studies comparing the clinical presentation and neuropsychological, neuropathological, genetic, and neuroimaging findings of both types in order to determine whether EOAD and LOAD are different entities or distinct forms of the same entity. We observed consistent differences between clinical findings in EOAD and in LOAD. Fundamentally, the onset of EOAD is more likely to be marked by atypical symptoms, and cognitive assessments point to poorer executive and visuospatial functioning and praxis with less marked memory impairment. Alzheimer-type features will be more dense and widespread in neuropathology studies, with structural and functional neuroimaging showing greater and more diffuse atrophy extending to neocortical areas (especially the precuneus). In conclusion, available evidence suggests that EOAD and LOAD are 2 different forms of a single entity. LOAD is likely to be influenced by ageing-related processes. Copyright © 2015 Sociedad Española de Neurología. Publicado por Elsevier España, S.L.U. All rights reserved.

  10. SOME PSYCHOPATHOLODICAL PECULIARITIES AT EARLY AND LATE ONSET IN PATIENTS WITH ALZHEIMER'S DISEASE

    Directory of Open Access Journals (Sweden)

    Mariana Arnaoudova

    2010-11-01

    Full Text Available Age-related conditions are of great medical and social importance. The most common cause of dementia is Alzheimer’s disease (AD. Neuropsychiatric symptoms are an integral part of the disease and present severe problems to patients, their families, caregivers and the society at large. The aim of our work was to explore the manifestation of some psychic (non-psychotic and psychotic and behavioral symptoms (BPSD of hospitalized patients with early onset (EO-AD and late onset (LO-AD of AD with a view to compare and enrich the clinical, diagnostic and differential diagnostic possibilities. In this study significant differences in terms of BPSD between EO-AD and LO-AD patients were found. The data of EO-AD patients to be more psychotic with more behavioral problems could represent another clinical support of dividing AD not only to the age of onset.As we discuss in our paper some methodological issues, the number of examined patients in our study was comparatively small. That is why we comment some of the data as a tendency.

  11. Neonatal and Maternal 25-OH Vitamin D Serum Levels in Neonates with Early-Onset Sepsis.

    Science.gov (United States)

    Gamal, Taha Soliman; Madiha, Abd-Allah Sayed; Hanan, Mostafa Kamel; Abdel-Azeem, Mohamed El-Mazary; Marian, Gamil S

    2017-05-09

    Vitamin D is a fat-soluble vitamin that is important for calcium metabolism and plays an important role in the immune functions. The aim of this study was to measure neonatal and maternal 25-OH vitamin D serum levels in neonates with early onset sepsis. The study included fifty neonates with early onset sepsis (25 full-term and 25 preterm infants) and thirty age and sex matched healthy neonates as controls. After history taking and clinical examination, complete blood count, C-reactive protein and 25-OH vitamin D serum levels (neonatal and maternal) were measured for all neonates. The mean gestational age for neonates with sepsis was (37.5 ± 0.98 for full term and 34.1 ± 1.26 for preterm neonates). Neonatal and maternal 25-OH vitamin D serum levels were significantly lower in patients (6.4 ± 1.8 and 24.6 ± 2.2 nmol/L) than controls (42.5 ± 20.7 and 50.4 ± 21.4 nmol/L). Significant negative correlations between neonatal and maternal 25-OH vitamin D serum levels and all sepsis markers and significant positive correlations between neonatal and maternal 25-OH vitamin D levels were present. At cut-off values <20 nmol/L for neonatal and <42 nmol/L for maternal 25-OH vitamin D for detection of neonatal sepsis, the sensitivity, specificity, positive predicted value (PPV) and negative predicted value (NPV) were 84%, 79%, 94.7% and 82.3% for neonatal and 82%, 77%, 91.4% and 80.6% for maternal 25-OH vitamin D, respectively. Positive correlations between neonatal and maternal 25-OH Vitamin D serum levels are present and they are negatively correlated with all sepsis markers. They can be sensitive early predictors for early onset sepsis in neonates.

  12. Inherited leukoencephalopathies with clinical onset in middle and old age.

    Science.gov (United States)

    Nannucci, Serena; Donnini, Ida; Pantoni, Leonardo

    2014-12-15

    The currently widespread use of neuroimaging has led neurologists to often face the problem of the differential diagnosis of white matter diseases. There are various forms of leukoencephalopathies (vascular, inflammatory and immunomediated, infectious, metabolic, neoplastic) and sometimes white matter lesions are expression of a genetic disease. While many inherited leukoencephalopathies fall in the child neurologist's interest, others may have a delayed or even a typical onset in the middle or old age. This field is rapidly growing and, in the last few years, many new inherited white matter diseases have been described and genetically defined. A non-delayed recognition of middle and old age inherited leukoencephalopathies appears important to avoid unnecessary tests and therapies in the patient and to possibly anticipate the diagnosis in relatives. The aim of this review is to provide a guide to direct the diagnostic process when facing a patient with a suspicion of an inherited form of leukoencephalopathy and with clinical onset in middle or old age. Based on a MEDLINE search from 1990 to 2013, we identified 24 middle and old age onset inherited leukoencephalopathies and reviewed in this relation the most recent findings focusing on their differential diagnosis. We provide summary tables to use as a check list of clinical and neuroimaging findings that are most commonly associated with these forms of leukoencephalopathies. When present, we reported specific characteristics of single diseases. Several genetic diseases may be suspected in patients with middle or old age and white matter abnormalities. In only few instances, pathognomonic clinical or associated neuroimaging features help identifying a specific disease. Therefore, a comprehensive knowledge of the characteristics of these inherited white matter diseases appears important to improve the diagnostic work-up, optimize the choice of genetic tests, increase the number of diagnosed patients, and stimulate

  13. Early Learner Engagement in the Clinical Workplace

    NARCIS (Netherlands)

    Chen, H.C.

    2015-01-01

    Introduction Recent calls for medical education reform advocate for the integration of knowledge with clinical experience through early clinical immersion. Yet, early learners rarely are invited to participate in workplace activities and early clinical experiences remain largely observational.

  14. Early prediction of new-onset physical disability after intensive care unit stay: a preliminary instrument.

    Science.gov (United States)

    Schandl, Anna; Bottai, Matteo; Holdar, Ulrika; Hellgren, Elisabeth; Sackey, Peter

    2014-07-31

    Many intensive care unit (ICU) survivors suffer from physical disability for months after ICU stay. There is no structured method to identify patients at risk for such problems. The purpose of the study was to develop a method for early in-ICU prediction of the patient's individual risk for new-onset physical disability two months after ICU stay. In total, 23 potential predictors for physical disability were assessed before individual ICU discharge. Two months after ICU discharge, out of 232 eligible patients, 148 ICU survivors (64%) completed the activity of daily living (ADL) staircase questionnaire to determine new-onset physical disability. A total of 95% percent of patients had no ADL reduction prior to ICU admission. 47% (n = 69) of questionnaire responders suffered from worsened ADL. We identified four independent predictors for new-onset physical disability: Low educational level (odds ratio (OR) =6.8), impaired core stability (OR = 4.6), fractures (OR = 4.5) and ICU length of stay longer than 2 days (OR = 2.6). The predictors were included in a screening instrument. The regression coefficient of each predictor was transformed into a risk score. The sum of risk scores was related to a predicted probability for physical disability in the individual patient. The cross-validated area under receiver operating characteristics curve (AUC) for the screening instrument was 0.80. Educational level is the single most important predictor for new-onset physical disability 2 months after ICU stay, followed by impaired core stability at ICU discharge, the presence of fractures and ICU stay longer than 2 days. A simple screening instrument based on these predictors can be used at ICU discharge to determine the risk for new-onset physical disability. This preliminary instrument may help clinicians to identify patients in need of support, but needs external validation prior to wider clinical use.

  15. Phenotype-Genotype Analysis of Chinese Patients with Early-Onset LMNA-Related Muscular Dystrophy.

    Directory of Open Access Journals (Sweden)

    Dandan Tan

    Full Text Available This study aimed to analyze the correlation between the phenotype and genotype of Chinese patients with early-onset lamin A (LMNA-related muscular dystrophy (MD. The clinical and myopathological data of 21 Chinese pediatric patients with early-onset LMNA-related MD were collected and analyzed. LMNA gene mutation analysis was performed by direct sequencing of genomic DNA. Sublocalization of wild-type and mutant proteins were observed by immunofluorescence using cultured fibroblasts and human embryonic kidney 293 (HEK 293 cell. Seven patients were diagnosed with Emery-Dreifuss muscular dystrophy (EDMD and 14 were diagnosed with LMNA-associated congenital muscular dystrophy (L-CMD. Four biopsy specimens from the L-CMD cases exhibited inflammatory changes. Abnormal nuclear morphology was observed with both transmission electron microscopy and lamin A/C staining. We identified 10 novel and nine known LMNA gene mutations in the 21 patients. Some mutations (c.91G>A, c.94_96delAAG, c.116A>G, c.745C>T, c.746G>A, and c.1580G>C were well correlated with EDMD or L-CMD. LMNA-related MD has a common symptom triad of muscle weakness, joint contractures, and cardiac involvement, but the severity of symptoms and disease progression differ greatly. Inflammatory change in biopsied muscle is a characteristic of early-stage L-CMD. Phenotype-genotype analysis determines that some mutations are well correlated with LMNA-related MD.

  16. Successful scene encoding in presymptomatic early-onset Alzheimer’s disease

    Science.gov (United States)

    Quiroz, Yakeel T.; Willment, Kim Celone; Castrillon, Gabriel; Muniz, Martha; Lopera, Francisco; Budson, Andrew; Stern, Chantal E.

    2016-01-01

    Background Brain regions critical to episodic memory are altered during the preclinical stages of Alzheimer’s disease (AD). However, reliable means of identifying cognitively-normal individuals at higher risk to develop AD have not been established. Objective To examine whether fMRI can detect early functional changes associated with scene encoding in a group of presymptomatic Presenilin-1 (PSEN1) E280A mutation carriers. Methods Participants were 39 young, cognitively-normal individuals from an autosomal dominant early-onset AD kindred, located in Antioquia, Colombia. Participants performed an fMRI scene encoding task and a post-scan subsequent memory test. Results PSEN1 mutation carriers exhibited hyperactivation within medial temporal lobe regions during successful scene encoding (hippocampal formation, parahippocampal gyrus) compared to age-matched non-carriers. Conclusion Hyperactivation in medial temporal lobe regions during scene encoding is seen in individuals genetically-determined to develop AD years before their clinical onset. Our findings will guide future research with the ultimate goal of using functional neuroimaging in the early detection of preclinical AD. PMID:26401774

  17. Committee Opinion Summary No. 638: First-Trimester Risk Assessment for Early-Onset Preeclampsia.

    Science.gov (United States)

    2015-09-01

    Hypertensive disorders with adverse sequelae (including preterm birth, maternal morbidity and mortality, and long-term risk of maternal cardiovascular disease) complicate 5-10% of pregnancies. Early identification of pregnant women at risk of developing early-onset preeclampsia would theoretically allow referral for more intensive surveillance or application of preventive therapies to reduce the risk of severe disease. In practice, however, the effectiveness of such triage would be hindered by the low positive predictive value for early-onset preeclampsia reported in the literature. In spite of the modest predictive value of first-trimester preeclampsia risk assessment and the lack of data demonstrating improved clinical outcomes, commercial tests are being marketed for the prediction of preeclampsia in the first trimester. Taking a detailed medical history to evaluate for risk factors is currently the best and only recommended screening approach for preeclampsia; it should remain the method of screening for preeclampsia until studies show that aspirin or other interventions reduce the incidence of preeclampsia for women at high risk based on first-trimester predictive tests.

  18. Validity of hematologic parameters in identification of early and late onset neonatal infection.

    Science.gov (United States)

    Varsha; Rusia, Usha; Sikka, Meera; Faridi, M M A; Madan, Nishi

    2003-10-01

    This study was designed to evaluate the utility of hematological parameters and C-reactive protein (CRP) to formulate a sepsis screen to detect sepsis in early and late onset infection. Hundred and fifty neonates clinically suspected of bacterial infection, based on risk factors and/or clinical features were selected for the study. Blood was collected by venipuncture at the time of admission in all neonates. A total leukocyte count (TLC), differential leukocyte count (DLC), its derivatives [Total neutrophil count (TNC or T), ratio of immature to total neutrophil count (I/T), ratio of immature to mature neutrophil count (I/M)] and CRP were obtained. TLC = 10x10(9)/L, TNC = 8x10(9)/L, I/T = 0.16, I/M = 0.25 and CRP = 0.6 mg/dl were found to be good parameters in detection of sepsis. During the first three days of life leukopenia, neutropenia, elevated I/T ratio, elevated I/M ratio and CRP were good diagnostic aids while after 3 days of life CRP was the best single test. This emphasizes use of multiple indicators for detection of sepsis. Using these parameters a sepsis screen was formulated which detected >90% of proven early and late onset sepsis suggesting that other neonates with positive sepsis screen but blood culture negativity may have been truly infected.

  19. A case of probable non-familial early onset Alzheimer dementia in a Hispanic male

    Directory of Open Access Journals (Sweden)

    Corey Ephrussi

    2012-07-01

    Full Text Available Background: Early onset Alzheimer's type dementia (EOAD is usually familial and associated with mutations in the Presenilin-1 (PSEN1, Presenilin-2 (PSEN2 or amyloid precursor protein (APP genes. It is rarely reported in patients of Hispanic descent. Case report: A 49-year-old Hispanic male developed significant cognitive impairment over a 4-year period. PET scan showed diminished metabolic activity in the posterior parietal/temporal lobes. Genetic testing revealed the presence of a PSEN1 gene mutation. Conclusion: Disparities in health care may account for an under-recognition of EOAD in the Hispanic population. Clinicians should test for EOAD in all patients with appropriate symptomatology, regardless of ethnicity. Early recognition and enrollment in clinical trials is vital to enhancing our understanding of the natural history and treatment of this condition.

  20. BAFF is decreased in the cerebrospinal fluid of multiple sclerosis at clinical onset.

    Science.gov (United States)

    Puthenparampil, M; Miante, S; Federle, L; Zanetta, C; Toffanin, E; Ruggero, S; Rinaldi, F; Gallo, P

    2016-08-15

    B-cells are thought to play a relevant role in multiple sclerosis (MS) pathology. BAFF (B cell activating factor of the TNF family) is a B-cell survival factor constitutively produced inside the CNS by astrocytes. We studied the intrathecal synthesis of BAFF in MS at clinical onset. Paired serum and cerebrospinal fluid (CSF) specimens from 40 clinically isolated syndromes (CIS) suggestive of MS or early relapse-onset MS (eRRMS) and from 18 healthy controls (HC) were analysed. Patients were classified based on the detection of oligoclonal IgG bands in the CSF (IgGOB+ and IgGOB-). BAFF was detected by highly sensitive ELISA and its ratio (CSF-BAFF/serum-BAFF, QBAFF) and Index (QBAFF/QAlb, BAFF-Index) were calculated. IgGOB+ presented lower CSF concentrations of BAFF compared to both HC and IgGOB- (pBAFF Index was significantly lower in IgGOB+ compared to both HC and IgGOB- (pBAFF index and IgGIF (r: -0.4, pBAFF in IgGOB+ at clinical onset suggest the absorption of this factor by intrathecally recruited B cells since the early disease phases. Copyright © 2016 Elsevier B.V. All rights reserved.

  1. Regional cerebral blood flow changes and neuropsychological functioning in early and late onset alcoholism

    International Nuclear Information System (INIS)

    Demir, B.; Ulug, B.; Ergun, E.; Erbas, B.

    2002-01-01

    Aim: Chronic alcoholism is strongly associated with morphologic and functional abnormalities in the brain. The age-of-onset of alcoholism symptoms might be of discriminating value and can be used to subdivide the population into more homogeneous groups. The aim of the study was to compare late and early onset alcoholism with regard to regional cerebral blood flow (rCBF) and neuropsychological functioning. Methods: Ten late onset (Type I) and thirteen early onset (Type II) male alcoholics were included in the study, the criterion being the age of onset for alcohol abuse. Six healthy, age-matched, male volunteers were included as a control group. rCBF changes were assessed using Tc-99m-HMPAO/SPECT after a detoxification period. Transaxial slices were assessed visually and semi quantitatively. Regional mean counts were divided to the mean counts of cerebellar and occipital regions to obtain semiquantitative ratios for superior frontal, middle frontal, inferior frontal, temporal and parietal lobes for the left and right hemispheres. The neuropsychological battery consisted of the Wisconsin Card Sorting Test, the Wechsler Memory Scale and the Word Fluency Test. Results: Type I and II groups had significantly asymmetric blood flow in the frontal region compared to control group (Left frontal percentage; Type I%46.8±2, Type II=48.3±2.3, Control=50.8±3, p=0.008). The semiquantitative ratios for the frontal subregions were lower for the patients compared to those of control group, however, statistically significant difference was observed only for the ratio of superior frontal region to occipital region in type I patients, for both left and right. The difference between the two subgroups was not statistically significant. Both groups of alcoholic patients also displayed impairment in frontal lobe functions and non-verbal memory. No significant difference was detected between the alcoholic subgroups on neuropsychological measures. There was no significant correlation

  2. Early onset epileptic encephalopathy with a novel GABRB3 mutation treated effectively with clonazepam

    Science.gov (United States)

    Zhang, Yi; Lian, Yajun; Xie, Nanchang

    2017-01-01

    Abstract Rationale: Early onset epileptic encephalopathy (EOEE) is one of the most serious early onset epilepsies. The etiopathology of this condition remains unclear, and recent evidence indicated that gamma-aminobutyric acid (GABA) A receptor, subunit beta 3 (GABRB3) gene mutations might be associated with EOEE. Furthermore, the therapeutic regimen for EOEE has yet to be well elucidated. Herein, we reported the clinical and genetic features of a case with GABRB3-related EOEE. Patient concerns: A 6-year-old girl developed epileptic seizures 3 days after birth. She presented with multiple seizure types including myoclonic seizures, spasms, and absence seizures. Serial electroencephalographic examinations showed variable abnormalities, and intellectual evaluation revealed significant development retardation. Conventional antiepileptic drugs were ineffective for the seizure controlling. Genetic screening identified a novel nonsense mutation (C.5G > A, p.W2X) in the GABRB3 gene. Diagnoses: Early onset epileptic encephalopathy. Interventions: We changed the antiepileptic strategy to oral clonazepam (0.5mg twice daily). The patient was followed up once a week and significant declining in the attack frequency was noted 1 week later (2–3 times daily). Subsequently, the dosage was doubled (1mg twice daily), and complete cessation of seizures was achieved 20 days later. Outcomes: Through a 9-month follow up,the girl remained seizure-free. Lessons: This study identified a novel nonsensemutation (C.5G>A) in the exon 1 of GABRB3 Gene, which may be associated with EOEE. To our knowledge, this is the first report to use clonazepam in the patient with GABRB3-related EOEE with favorable outcome. Our finding suggested that clonazepam might be a choice for patient with GABRB3-related EOEE. The remarkable efficacy of clonazepam in the control of seizures indicated a potential GABRB3- or GABA-related mechanism involved in the development of EOEE. PMID:29390378

  3. Searching for neurodegeneration in multiple sclerosis at clinical onset: Diagnostic value of biomarkers.

    Science.gov (United States)

    Novakova, Lenka; Axelsson, Markus; Malmeström, Clas; Imberg, Henrik; Elias, Olle; Zetterberg, Henrik; Nerman, Olle; Lycke, Jan

    2018-01-01

    Neurodegeneration occurs during the early stages of multiple sclerosis. It is an essential, devastating part of the pathophysiology. Tools for measuring the degree of neurodegeneration could improve diagnostics and patient characterization. This study aimed to determine the diagnostic value of biomarkers of degeneration in patients with recent clinical onset of suspected multiple sclerosis, and to evaluate these biomarkers for characterizing disease course. This cross-sectional study included 271 patients with clinical features of suspected multiple sclerosis onset and was the baseline of a prospective study. After diagnostic investigations, the patients were classified into the following disease groups: patients with clinically isolated syndrome (n = 4) or early relapsing remitting multiple sclerosis (early RRMS; n = 93); patients with relapsing remitting multiple sclerosis with disease durations ≥2 years (established RRMS; n = 39); patients without multiple sclerosis, but showing symptoms (symptomatic controls; n = 89); and patients diagnosed with other diseases (n = 46). In addition, we included healthy controls (n = 51) and patients with progressive multiple sclerosis (n = 23). We analyzed six biomarkers of neurodegeneration: cerebrospinal fluid neurofilament light chain levels; cerebral spinal fluid glial fibrillary acidic protein; cerebral spinal fluid tau; retinal nerve fiber layer thickness; macula volume; and the brain parenchymal fraction. Except for increased cerebral spinal fluid neurofilament light chain levels, median 670 ng/L (IQR 400-2110), we could not find signs of early degeneration in the early disease group with recent clinical onset. However, the intrathecal immunoglobin G production and cerebral spinal fluid neurofilament light chain levels showed diagnostic value. Moreover, elevated levels of cerebral spinal fluid glial fibrillary acidic protein, thin retinal nerve fiber layers, and low brain parenchymal fractions were associated with

  4. Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression

    Science.gov (United States)

    Olson, Heather E.; Kelly, McKenna; LaCoursiere, Christopher M.; Pinsky, Rebecca; Tambunan, Dimira; Shain, Catherine; Ramgopal, Sriram; Takeoka, Masanori; Libenson, Mark H.; Julich, Kristina; Loddenkemper, Tobias; Marsh, Eric D.; Segal, Devorah; Koh, Susan; Salman, Michael S.; Paciorkowski, Alex R.; Yang, Edward; Bergin, Ann M.; Sheidley, Beth Rosen; Poduri, Annapurna

    2017-01-01

    Objective We sought to identify genetic causes of early onset epileptic encephalopathies with burst suppression (Ohtahara syndrome and early myoclonic encephalopathy) and evaluate genotype-phenotype correlations. Methods We enrolled 33 patients with a referral diagnosis of Ohtahara syndrome or early myoclonic encephalopathy without malformations of cortical development. We performed detailed phenotypic assessment including seizure presentation, EEG, and MRI. We confirmed burst suppression in 28 out of 33 patients. Research-based exome sequencing was performed for patients without a previously identified molecular diagnosis from clinical evaluation or research-based epilepsy gene panel. Results In 17/28 (61%) patients with confirmed early burst suppression, we identified variants predicted to be pathogenic in KCNQ2 (n=10), STXBP1 (n=2), SCN2A (n=2), PNPO (n=1), PIGA (n=1), and SEPSECS (n=1). In 3/5 (60%) patients without confirmed early burst suppression, we identified variants predicted to be pathogenic in STXBP1 (n=2) and SCN2A (n=1). The patient with the homozygous PNPO variant had a low CSF pyridoxal-5-phosphate level. Otherwise, no early laboratory or clinical features distinguished the cases associated with pathogenic variants in specific genes from each other or from those with no prior genetic cause identified. Interpretation We characterize the genetic landscape of epileptic encephalopathy with burst suppression, without brain malformations, and demonstrate feasibility of genetic diagnosis with clinically available testing in over 60% of our cohort with KCNQ2 implicated in one third. This electroclinical syndrome is associated with pathogenic variation in SEPSECS. PMID:28133863

  5. Social Anxiety and Onset of Drinking in Early Adolescence

    Science.gov (United States)

    Tomlinson, Kristin L.; Cummins, Kevin M.; Brown, Sandra A.

    2013-01-01

    The present study examines several types of social anxiety that may be associated with the onset of alcohol use in middle school students, and whether the relationship differs by sex and grade. Students in the seventh and eighth grades (N = 2,621) completed the Social Anxiety Scale for Adolescents and a measure of lifetime drinking via schoolwide…

  6. Association of Early-Onset Spasticity and Risk for Cognitive Impairment With Mutations at Amino Acid 499 in SPAST.

    Science.gov (United States)

    Gillespie, Meredith K; Humphreys, Peter; McMillan, Hugh J; Boycott, Kym M

    2018-04-01

    Hereditary spastic paraplegia is a phenotypically and genetically heterogeneous group of neurodegenerative disorders characterized by lower extremity weakness and spasticity. Spastic paraplegia 4 (SPG4), caused by heterozygous mutations in the gene SPAST, typically causes a late-onset, uncomplicated form of hereditary spastic paraplegia in affected individuals. Additional clinical features in SPG4 have been reported on occasion, but no genotype-phenotype correlation has been established. Through targeted clinical testing, we identified 2 unrelated female patients with the same de novo p.Arg499His mutation in SPAST. Both patients presented with early-onset spasticity resulting in delayed motor milestones, which led to a diagnosis of cerebral palsy in one child and tethered cord in the other. Review of the literature identified several patients with mutations at amino acid 499 and early-onset symptoms associated with a risk of cognitive impairment. Early and accurate diagnosis of children with early-onset spasticity is important for informed prognosis and genetic counselling.

  7. Early Onset Optic Neuritis Following Measles-Rubella Vaccination

    Directory of Open Access Journals (Sweden)

    Siamak Moradian

    2008-12-01

    Full Text Available

    PURPOSE: To report two cases of optic neuritis with onset less than 24 hours following measles-rubella (MR vaccination. CASE REPORT: Two teenage patients developed acute optic neuritis 6 to 7 hours after MR booster vaccination. The first patient demonstrated bilateral papillitis and severe visual loss but improved significantly with pulse intravenous steroid therapy with methylprednisolone 500 mg/day. The second patient had unilateral retrobulbar optic neuritis and demonstrated excellent visual recovery without intervention. CONCLUSION: Acute optic neuritis is a rare complication of MR vaccination and may occur early after immunization.

  1. Relationship between thrombophilic disorders and type of severe early-onset hypertensive disorder of pregnancy

    NARCIS (Netherlands)

    Ganzevoort, Wessel; Rep, Annelies; de Vries, Johanna Ip; Bonsel, Gouke J.; Wolf, Hans; Petra-Investigators, For The

    2007-01-01

    OBJECTIVE: To determine whether specific subtypes of early-onset hypertensive disorders of pregnancy (haemolysis, elevated liver enzymes, low platelets [HELLP] syndrome; severe preeclampsia; eclampsia; and fetal growth restriction) differ in increased prevalences of thrombophilic disorders. DESIGN:

  2. Altered PDE10A expression detectable early before symptomatic onset in Huntington's disease.

    Science.gov (United States)

    Niccolini, Flavia; Haider, Salman; Reis Marques, Tiago; Muhlert, Nils; Tziortzi, Andri C; Searle, Graham E; Natesan, Sridhar; Piccini, Paola; Kapur, Shitij; Rabiner, Eugenii A; Gunn, Roger N; Tabrizi, Sarah J; Politis, Marios

    2015-10-01

    There is an urgent need for early biomarkers and novel disease-modifying therapies in Huntington's disease. Huntington's disease pathology involves the toxic effect of mutant huntingtin primarily in striatal medium spiny neurons, which highly express phosphodiesterase 10A (PDE10A). PDE10A hydrolyses cAMP/cGMP signalling cascades, thus having a key role in the regulation of striatal output, and in promoting neuronal survival. PDE10A could be a key therapeutic target in Huntington's disease. Here, we used combined positron emission tomography (PET) and multimodal magnetic resonance imaging to assess PDE10A expression in vivo in a unique cohort of 12 early premanifest Huntington's disease gene carriers with a mean estimated 90% probability of 25 years before the predicted onset of clinical symptoms. We show bidirectional changes in PDE10A expression in premanifest Huntington's disease gene carriers, which are associated with the probability of symptomatic onset. PDE10A expression in early premanifest Huntington's disease was decreased in striatum and pallidum and increased in motor thalamic nuclei, compared to a group of matched healthy controls. Connectivity-based analysis revealed prominent PDE10A decreases confined in the sensorimotor-striatum and in striatonigral and striatopallidal projecting segments. The ratio between higher PDE10A expression in motor thalamic nuclei and lower PDE10A expression in striatopallidal projecting striatum was the strongest correlate with higher probability of symptomatic conversion in early premanifest Huntington's disease gene carriers. Our findings demonstrate in vivo, a novel and earliest pathophysiological mechanism underlying Huntington's disease with direct implications for the development of new pharmacological treatments, which can promote neuronal survival and improve outcome in Huntington's disease gene carriers. © The Author (2015). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights

  3. Risk of early onset pneumonia in neonates with abnormal gastric aspirate

    OpenAIRE

    IB. Mahendra; I Wayan Retayasa; I Made Kardana

    2008-01-01

    Background Early onset neonatal pneumonia is the risk factor for neonatal sepsis that increases risk for neonatal deaths. Recognition, prevention, and treatment of this problem is major factors in the managemant of high risk neonates. Analysis of gastric aspirate, collected soon after birth is a useful screening test for predicting pneumonia. Objective To evaluate the risk of early onset of neonatal pneumonia in neonates with abnormal gastric aspirate. Methods A case c...

  4. Mothers' experience of caring for a child with early onset scoliosis: A qualitative descriptive study.

    Science.gov (United States)

    Lauder, Bonnie; Sinclair, Peter M; Maguire, Jane

    2018-02-05

    This study aimed to identify and describe the experience of parents of children diagnosed with early onset scoliosis living in Australia. Chronic childhood disease has a major impact on health-related quality of life. Caring for a child with a chronic illness is well documented but the specific experiences of parents who care for children with early onset scoliosis, a rare but devastating illness, has not been explored. Numerous studies have described the interrelated psychological, financial, social, physical and logistical factors that impact the experience of the caregiver role with various diseases, but in the case of early onset scoliosis, limited studies have been conducted about the parental experience. A qualitative descriptive design was used. A snowball sampling technique assisted in the recruitment. Parents invited to the study included mothers, fathers and guardians. Data were collected through semistructured interviews and transcribed verbatim. Transcripts were analysed thematically. Data collection complied with the Consolidated criteria for reporting qualitative research guidelines. Twelve mothers of children with early onset scoliosis were interviewed, as only mothers consented to participate. Four major themes emerged: emotional rollercoaster ride, a lack of resources, money talks and pervasive burden. Factors that impacted on the participants' ability to confront, manage and endure caring for a child with early onset scoliosis emerged from the data. The findings suggest there are multiple factors that influence the experience of mothers' caring for a child with early onset scoliosis. The recognition and appropriate management of these factors by healthcare professionals have the potential to improve the quality of life of parents who care for a child with early onset scoliosis. Healthcare professionals have first-line contact with parents of children with early onset scoliosis and are well placed to provide parents with evidence-based education

  5. Clinical spectrum of early onset cerebellar ataxia with retained tendon reflexes: an autosomal recessive ataxia not to be missed Espectro clínico da ataxia cerebelar de início precoce com reflexos mantidos: uma ataxia autossômica recessiva para não ser esquecida

    Directory of Open Access Journals (Sweden)

    José Luiz Pedroso

    2013-06-01

    Full Text Available Autosomal recessive cerebellar ataxias are a heterogeneous group of neurological disorders. In 1981, a neurological entity comprised by early onset progressive cerebellar ataxia, dysarthria, pyramidal weakness of the limbs and retained or increased upper limb reflexes and knee jerks was described. This disorder is known as early onset cerebellar ataxia with retained tendon reflexes. In this article, we aimed to call attention for the diagnosis of early onset cerebellar ataxia with retained tendon reflexes as the second most common cause of autosomal recessive cerebellar ataxias, after Friedreich ataxia, and also to perform a clinical spectrum study of this syndrome. In this data, 12 patients from different families met all clinical features for early onset cerebellar ataxia with retained tendon reflexes. Dysarthria and cerebellar atrophy were the most common features in our sample. It is uncertain, however, whether early onset cerebellar ataxia with retained tendon reflexes is a homogeneous disease or a group of phenotypically similar syndromes represented by different genetic entities. Further molecular studies are required to provide definitive answers to the questions that remain regarding early onset cerebellar ataxia with retained tendon reflexes.As ataxias cerebelares autossômicas recessivas são um grupo heterogêneo de doenças neurológicas. Em 1981, foi descrita uma entidade neurológica incluindo ataxia cerebelar progressiva de início precoce, disartria, liberação piramidal e manutenção ou aumento dos reflexos tendíneos nos membros superiores e inferiores. Essa síndrome é conhecida como ataxia cerebelar de início precoce com reflexos mantidos. Neste artigo, o objetivo foi chamar a atenção para o diagnóstico de ataxia cerebelar de início precoce com reflexos mantidos como a segunda causa mais comum de ataxia cerebelar autossômica recessiva, após a ataxia de Friedreich, e também realizar um estudo do espectro cl

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

    Directory of Open Access Journals (Sweden)

    Schneider Peter

    2010-07-01

    Full Text Available Abstract Background and aims There still is a lack of prospective studies on bone mineral development in patients with a history of early onset Anorexia nervosa (AN. Therefore we assessed associations between bone mass accrual and clinical outcomes in a former clinical sample. In addition to an expected influence of regular physical activity and hormone replacement therapy, we explored correlations with nutritionally dependent hormones. Methods 3-9 years (mean 5.2 ± 1.7 after hospital discharge, we re-investigated 52 female subjects with a history of early onset AN. By means of a standardized approach, we evaluated the general outcome of AN. Moreover, bone mineral content (BMC and bone mineral density (BMD as well as lean and fat mass were measured by dual-energy x-ray absorptiometry (DXA. In a substudy, we measured the serum concentrations of leptin and insulin-like growth factor-I (IGF-I. Results The general outcome of anorexia nervosa was good in 50% of the subjects (BMI ≥ 17.5 kg/m2, resumption of menses. Clinical improvement was correlated with BMC and BMD accrual (χ2 = 5.62/χ2 = 6.65, p = 0.06 / p = 0.036. The duration of amenorrhea had a negative correlation with BMD (r = -.362; p th percentile. IGF-I serum concentrations corresponded to the general outcome of AN. By contrast, leptin serum concentrations showed great variability. They correlated with BMC and current body composition parameters. Conclusions Our results from the main study indicate a certain adaptability of bone mineral accrual which is dependent on a speedy and ongoing recovery. While leptin levels in the substudy tended to respond immediately to current nutritional status, IGF-I serum concentrations corresponded to the individual's age and general outcome of AN.

  7. [Metabolic side effects of risperidone in early onset schizophrenia].

    Science.gov (United States)

    Goeb, J-L; Marco, S; Duhamel, A; Kechid, G; Bordet, R; Thomas, P; Delion, P; Jardri, R

    2010-06-01

    Atypical antipsychotics have a favourable risk/benefit profile in early onset schizophrenia (EOS). However, despite increasing use of psychotropic medication in children and adolescents, their endocrine and metabolic side-effects (weight gain, obesity, and related metabolic abnormalities such as hyperglycaemia and dyslipidemia) are of particular concern, especially within this paediatric population that appears to be at greater risk as compared with adults for antipsychotic-induced metabolic adverse effects. In addition to medication, many factors contribute to weigh gain in psychiatric patients, including sedentary lifestyle and poor diet. Excessive weigh gain has several deleterious effects in psychiatric patients, including stigmatization and further social withdrawal, and non compliance with medication. Furthermore, excessive corpulence may evolve to a metabolic syndrome with a high-risk state for future cardiovascular morbidity and mortality in adult age. Because youths are still developing at the time of psychotropic drug exposure, in a context of physiological changes in hormonal and endocrines levels and body composition, most reference values need to be adjusted for gender, age and growth charts. Hence, sex- and age-adjusted BMI percentiles and BMI Z scores are crucial to assess weight gain in children and adolescents. Obesity thresholds have been proposed to define "at risk" categories of patients. In recently issued guidelines, thresholds for antipsychotic-induced weight gain in adults have been set at a 5% increase or one point increase in BMI unit. To date, no definition has reached a consensus in childhood and adolescence. However, some at risk states requiring action are proposed in literature: more than 5% increase in weight within a three-month period; more than half a point increase in BMI Z score; between 85th and 95th BMI percentile plus one adverse health consequence (i.e. hyperglycaemia, dyslipidemia, hyperinsulinemia, hypertension, or

  8. The impact of initiation: Early onset marijuana smokers demonstrate altered Stroop performance and brain activation

    Directory of Open Access Journals (Sweden)

    K.A. Sagar

    2015-12-01

    Full Text Available Marijuana (MJ use is on the rise, particularly among teens and emerging adults. This poses serious public health concern, given the potential deleterious effects of MJ on the developing brain. We examined 50 chronic MJ smokers divided into early onset (regular MJ use prior to age 16; n = 24 and late onset (age 16 or later; n = 26, and 34 healthy control participants (HCs. All completed a modified Stroop Color Word Test during fMRI. Results demonstrated that MJ smokers exhibited significantly poorer performance on the Interference subtest of the Stroop, as well as altered patterns of activation in the cingulate cortex relative to HCs. Further, early onset MJ smokers exhibited significantly poorer performance relative to both HCs and late onset smokers. Additionally, earlier age of MJ onset as well as increased frequency and magnitude (grams/week of MJ use were predictive of poorer Stroop performance. fMRI results revealed that while late onset smokers demonstrated a more similar pattern of activation to the control group, a different pattern was evident in the early onset group. These findings underscore the importance of assessing age of onset and patterns of MJ use and support the need for widespread education and intervention efforts among youth.

  9. Associations of clinical features and prognosis with age at disease onset in patients with systemic lupus erythematosus.

    Science.gov (United States)

    Feng, X; Zou, Y; Pan, W; Wang, X; Wu, M; Zhang, M; Tao, J; Zhang, Y; Tan, K; Li, J; Chen, Z; Ding, X; Qian, X; Da, Z; Wang, M; Sun, L

    2014-03-01

    The objective of this study is to evaluate the association of clinical features and prognosis with age at disease onset in patients with systemic lupus erythematosus (SLE) in a large, multicenter Chinese cohort. Medical records of 1898 SLE inpatients from 15 hospitals were reviewed and classified into three groups according to their ages at disease presentation. Categorical data were analyzed by chi-square test and potentially associated factors were tested by multinomial logistic regression. Among the patients studied, 259 (13.6%) were juvenile onset (≤18 years), 1444 (76.1%) were early onset (>18 and ≤45 years) and 195 (10.3%) were late onset (>45 years). Whenever manifestations occurred, most patients (>80%) were diagnosed within two years. Juvenile-onset patients were more likely to be untreated before admission (p lupus. Interestingly, our data showed that more patients with late-onset disease had a SLEDAI score change of >7 at discharge. In conclusion, age at onset has an impact on SLE disease status, and infection is the main cause of death in those with late-onset lupus. Considering that the late-onset patients had simultaneously easily controllable diseases and high incidence of comorbidities, a different treatment strategy from younger patients should be considered.

  10. Are early-onset cannabis smokers at an increased risk of depression spells?

    Science.gov (United States)

    Fairman, Brian J; Anthony, James C

    2012-04-01

    A recent research focus is a set of hypothesized adult-onset mental health disturbances possibly due to early-onset cannabis use (EOCU, onset depression spell during adulthood, with comparisons to never cannabis smokers and those with delayed cannabis onset (i.e., not starting to smoke cannabis until adulthood). The National Surveys on Drug Use and Health (NSDUH) assess non-institutionalized community-dwelling residents of the United States after probability sampling each year. In aggregate, the NSDUH analytical sample included 173,775 adult participants from survey years 2005-2009 (74-76% of designated respondents). Standardized computer-assisted interviews collected information on background determinants, age of first cannabis use, and depression spell onset. Logistic regression was used to estimate EOCU-depression spell associations in the form of odds ratios, with statistical adjustment for sex, age, race/ethnicity, years of cannabis involvement, tobacco cigarette onset, and alcohol onset. About 1 in 10 experienced a depression spell during adulthood, and both early-onset and adult-onset cannabis smokers had a modest excess odds of a depression spell compared to never cannabis smokers, even with covariate adjustment (OR=1.7 and 1.8, respectively; both pcannabis smokers did not statistically differ from one another. Shared diathesis that might influence both EOCU and adult-onset depression spell is controlled no more than partially, as will be true until essentially all known early-life shared vulnerabilities are illuminated. Cannabis smoking initiated at any age signals a modest increased risk of a spell of depression in adulthood, even when adjusted for suspected confounding variables studied here. Delaying cannabis onset until adulthood does not appear to diminish the cannabis-associated risk. Copyright © 2011 Elsevier B.V. All rights reserved.

  11. Childhood onset diagnoses in a case series of teens at clinical high risk for psychosis.

    Science.gov (United States)

    Mazzoni, Paola; Kimhy, David; Khan, Shamir; Posner, Kelly; Maayan, Lawrence; Eilenberg, Mara; Messinger, Julie; Kestenbaum, Clarice; Corcoran, Cheryl

    2009-12-01

    REASONS: Schizophrenia is typically an adult neurodevelopmental disorder that has its antecedents in childhood and adolescence. Little is known about disorders "usually first diagnosed in infancy, childhood and adolescence" (e.g., childhood-onset disorders) in "prodromal" teens at heightened clinical risk for psychotic disorder. Childhood-onset disorders were prevalent in putatively prodromal teens, including anxiety and disruptive disorders, attention-deficit/hyperactivity disorder (ADHD), and, surprisingly, elimination disorders. These may reflect developmental antecedents in psychotic disorders such as schizophrenia. A case series of 9 teens (ages 13-17) identified as prodromal to psychosis were evaluated with the Kiddie Schedule for Affective Disorders and Schizophrenia-Present and Lifetime Version (K-SADS-PL). Childhood-onset diagnoses commonly endorsed (threshold or subthreshold) included ADHD (5/9), oppositional defiant disorder (5/9), enuresis or encopresis (4/9), conduct disorder (2/9), separation anxiety (3/9), and transient tic disorder (2/9). Enuresis was identified in 3 of the 4 older teens (ages 15-17). An understanding of the childhood-onset disorders that occur in teens at risk for psychotic illnesses, such as schizophrenia, can shed light on the pathophysiology of schizophrenia and potentially inform early identification and intervention.

  12. Late-onset hypogonadism: etiology, clinical features, diagnostics, treatment

    Directory of Open Access Journals (Sweden)

    E. Yu. Pashkova

    2015-01-01

    Full Text Available In a critical review of the literature current data concerning etiology, clinical features, diagnostics, treatment of late-onset hypogonadism (LOH are given. LOH is a multidisciplinary problem, because a patient with LOH can have osteoporosis, anemia, depression, obesity, diabetes mellitus, erectile dysfunction. Sometimes it is hard to realize that all this complaints are symptoms of LOH. LOH has a negative impact on a patient,s quality of life and it,s impossible to help without androgen replacement therapy. Furthermore doctors often have doubts about testosterone replacement therapy safety because of lack of accurate information. In a convenient for medical practitioners form clinical and laboratory diagnostic criteria of LOH are presented together with formulas for conversion from one measurement unit of main sex hormones into another. Based on latest ISSAM guidelines (International Society for the Study of the Aging Male modern treatment options of LOH are summarized, full information about available testosterone preparations (oral, transdermal, injectable with comparative analysis of advantages and disadvantages of each is given. A full description of indications and contraindications for androgen replacement treatment is presented, also treatment regimen and medical supervision algorithm during treatment are described. 

  13. Exercise and Early-Onset Alzheimer’s Disease: Theoretical Considerations

    Directory of Open Access Journals (Sweden)

    Astrid M. Hooghiemstra

    2012-04-01

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

  14. Investigating autism spectrum disorder and autistic traits in early onset eating disorder.

    Science.gov (United States)

    Pooni, Jyoti; Ninteman, Aafke; Bryant-Waugh, Rachel; Nicholls, Dasha; Mandy, William

    2012-05-01

    To investigate whether young people (8-16 years) with an eating disorder have a higher prevalence of autism spectrum disorder (ASDs) and elevated autistic traits compared to typically developing (TD) peers. Twenty-two participants with early onset eating disorder (EOED) were assessed using standardized ASD measures and compared to IQ matched TD (n = 24) and ASD (n = 20) controls. An ASD diagnosis was no more common in EOED than in TD controls. However, repetitive and stereotyped behavior was more often observed in the EOED group and, compared to TD controls, there was a trend (p = .07) toward greater autistic social impairment in EOED. Whilst participants with EOED did not show increased ASD prevalence, they did have elevated autistic traits of clinical significance, particularly repetitive and stereotyped behavior. Further work is required to determine whether inflexibility and social difficulties in EOED have identical phenomenology and etiology to those seen in ASD. Copyright © 2012 Wiley Periodicals, Inc.

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

    Directory of Open Access Journals (Sweden)

    Eng Christine M

    2011-07-01

    Full Text Available Abstract 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.

  16. Early Onset Dapsone-induced Photosensitive Dermatitis: A Rare Side Effect of a Common Drug.

    Science.gov (United States)

    Karjigi, S; Murthy, S C; Kallappa, H; Kusuma, M R; Reddy, Y N K

    2015-01-01

    Dapsone, a potent anti-inflammatory compound, is mainly used in the treatment of leprosy, dermatitis herpetiformis, erythema elevatum diutinum and other dermatoses. Cutaneous adverse reactions range from acneiform eruptions to toxic epidermal necrolysis. A 30-year-old, married women who was treated with paucibacillary multi drug therapy, developed itchy skin lesions over the both forearms, 'V ' area of the neck and upper back after one week of the drug administration which worsened on exposure to sunlights. A clinical diagnosis of dapsone-induced photosensitive dermatitis was confirmed by histopathology and recurrence of symptoms and signs after re-exposure to the drug. Photosensitivity due to dapsone is rare and very few reports are available in the literature. Our patient had an unusually early onset compared to the previously reported cases.

  17. Treatment of early-onset preeclampsia with continuous positive airway pressure.

    Science.gov (United States)

    Whitehead, Clare; Tong, Stephen; Wilson, Danielle; Howard, Mark; Walker, Susan P

    2015-05-01

    Preeclampsia is a leading cause of maternal and perinatal morbidity and mortality. There is no treatment for preeclampsia other than delivery. Sleep-disordered breathing is associated with adverse pregnancy outcomes, including preeclampsia, but it is not known whether treatment with continuous positive airway pressure (CPAP) improves perinatal outcomes. We report a 35-year-old primigravid woman diagnosed with preeclampsia at 30 weeks of gestation. A sleep study confirmed severe sleep-disordered breathing, and CPAP treatment was started. After CPAP treatment, both clinical and biochemical markers of preeclampsia improved. In addition, circulating angiogenic markers of preeclampsia improved. As a result, the pregnancy safely continued for 30 days, allowing the fetus to gain gestation. Continuous positive airway pressure may be a novel treatment for women with early-onset preeclampsia associated with sleep-disordered breathing.

  18. QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease.

    Science.gov (United States)

    Guarani, Virginia; Jardel, Claude; Chrétien, Dominique; Lombès, Anne; Bénit, Paule; Labasse, Clémence; Lacène, Emmanuelle; Bourillon, Agnès; Imbard, Apolline; Benoist, Jean-François; Dorboz, Imen; Gilleron, Mylène; Goetzman, Eric S; Gaignard, Pauline; Slama, Abdelhamid; Elmaleh-Bergès, Monique; Romero, Norma B; Rustin, Pierre; Ogier de Baulny, Hélène; Paulo, Joao A; Harper, J Wade; Schiff, Manuel

    2016-09-13

    Previously, we identified QIL1 as a subunit of mitochondrial contact site (MICOS) complex and demonstrated a role for QIL1 in MICOS assembly, mitochondrial respiration, and cristae formation critical for mitochondrial architecture (Guarani et al., 2015). Here, we identify QIL1 null alleles in two siblings displaying multiple clinical symptoms of early-onset fatal mitochondrial encephalopathy with liver disease, including defects in respiratory chain function in patient muscle. QIL1 absence in patients' fibroblasts was associated with MICOS disassembly, abnormal cristae, mild cytochrome c oxidase defect, and sensitivity to glucose withdrawal. QIL1 expression rescued cristae defects, and promoted re-accumulation of MICOS subunits to facilitate MICOS assembly. MICOS assembly and cristae morphology were not efficiently rescued by over-expression of other MICOS subunits in patient fibroblasts. Taken together, these data provide the first evidence of altered MICOS assembly linked with a human mitochondrial disease and confirm a central role for QIL1 in stable MICOS complex formation.

  19. A case of early-onset radiation retinopathy

    International Nuclear Information System (INIS)

    Sato, Yoko; Den, Seika; Shimizu, Kazuhiro; Ikeda, Tsunehiko

    2001-01-01

    We encountered a 27-year-old male early caused by radiation retinopathy five months after radiotherapy (51 Gy) for astrocytoma. The retinopathy was the proliferative retinopathy, with several dot and blot hemorrhages, hard and soft exudate, increased capillary permeability, macula edema and avasucular areas. So it was treated with panretial photocoagulation like diabetic retinopathy. Now hemorrhage, exudate, edema and avascular areas were improved. Photocoagulation treatment is effective to stop the progression of radiation retinopathy. Radiation retinopathy is sometimes early caused, therefore long-term follow up is recommended on starting radiotherapy. (author)

  20. A case of early-onset radiation retinopathy

    Energy Technology Data Exchange (ETDEWEB)

    Sato, Yoko; Den, Seika; Shimizu, Kazuhiro; Ikeda, Tsunehiko [Osaka Medical Coll., Takatsuki (Japan)

    2001-12-01

    We encountered a 27-year-old male early caused by radiation retinopathy five months after radiotherapy (51 Gy) for astrocytoma. The retinopathy was the proliferative retinopathy, with several dot and blot hemorrhages, hard and soft exudate, increased capillary permeability, macula edema and avasucular areas. So it was treated with panretial photocoagulation like diabetic retinopathy. Now hemorrhage, exudate, edema and avascular areas were improved. Photocoagulation treatment is effective to stop the progression of radiation retinopathy. Radiation retinopathy is sometimes early caused, therefore long-term follow up is recommended on starting radiotherapy. (author)

  1. Neutrophil CD64 in early-onset neonatal sepsis

    African Journals Online (AJOL)

    EL-HAKIM

    new generation of tests to detect early systemic infections measures the up ... culture. Results: Neutrophil CD64 expression was increased significantly in neonates with neonatal sepsis than controls (p=0.001). Cases with history of premature rupture of ..... Khader Y, Amarin Z, Daoud A. Diagnostic markers for neonatal ...

  2. A high degree of LINE-1 hypomethylation is a unique feature of early-onset colorectal cancer.

    Directory of Open Access Journals (Sweden)

    Marina Antelo

    Full Text Available 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.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.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.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.

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

    Science.gov (United States)

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

    2009-01-01

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

  4. Preliminary findings demonstrating latent effects of early adolescent marijuana use onset on cortical architecture

    Directory of Open Access Journals (Sweden)

    Francesca M. Filbey

    2015-12-01

    Conclusions: Divergent patterns between current MJ use and elements of cortical architecture were associated with early MJ use onset. Considering brain development in early adolescence, findings are consistent with disruptions in pruning. However, divergence with continued use for many years thereafter suggests altered trajectories of brain maturation during late adolescence and beyond.

  5. Early Onset Substance Use in Adolescents with Depressive, Conduct, and Comorbid Symptoms

    Science.gov (United States)

    Stone, Andrea L.; Vander Stoep, Ann; McCauley, Elizabeth

    2016-01-01

    This study investigates whether co-occurring depressive and conduct symptoms in early adolescence are associated with an elevated occurrence of early onset substance. Five hundred twenty-one sixth graders were assessed for depressive symptoms and conduct problems and underwent five substance use assessments during middle school. Logistic…

  6. The role of monogenic disease in children with very early onset inflammatory bowel disease.

    Science.gov (United States)

    Kelsen, Judith R; Baldassano, Robert N

    2017-10-01

    Inflammatory bowel disease (IBD) is a multifactorial disease caused by dysregulated immune responses to commensal or pathogenic intestinal microbes, resulting in chronic intestinal inflammation. Patients diagnosed with IBD occurring before the age of 5 are a unique population, known as very early onset (VEO)-IBD and can be phenotypically and genetically distinct from older-onset IBD. We aim to review the clinical presentation of children with VEO-IBD and recent discoveries that point to genomic drivers of disease that may impact our therapeutic decisions. VEO-IBD is increasing in incidence and is associated with more severe disease, aggressive progression and poor response to most conventional therapies. This article will review the advances in sequencing technology that have led to identification of novel gene variants associated with disease and potentially new targeted therapeutic options. Children with VEO-IBD may present with a different phenotype and more severe disease than older children and adults. Identification of the causal gene or pathways, these children may allow for true precision medicine with targeted therapy and improved disease course.

  7. Adult onset leukodystrophy with neuroaxonal spheroids: Clinical, neuroimaging and neuropathologic observations

    Science.gov (United States)

    Freeman, Stefanie H.; Hyman, Bradley T.; Sims, Katherine B.; Hedley-Whyte, E. T.; Vossough, Arastoo; Frosch, Matthew P.; Schmahmann, Jeremy D.

    2009-01-01

    Pigmented orthochromatic leukodystrophy (POLD) and Hereditary diffuse leukoencephalopathy with spheroids HDLS are two adult onset leukodystrophies with neuroaxonal spheroids presenting with prominent neurobehavioral, cognitive, and motor symptoms. These are familial or sporadic disorders characterized by cerebral white matter degeneration including myelin and axonal loss, gliosis, macrophages, and axonal spheroids. We report clinical, neuroimaging and pathological correlations of four women ages 34–50 years with adult onset leukodystrophy. Their disease course ranged from 1.5–8 years. Three patients had progressive cognitive and behavioral changes whereas one had acute onset. Neuroimaging revealed white matter abnormalities characterized by symmetric, bilateral, T2 hyperintense and T1 hypointense MRI signal involving frontal lobe white matter in all patients. Extensive laboratory investigations were negative apart from abnormalities in some mitochondrial enzymes and immunologic parameters. Autopsies demonstrated severe leukodystrophy with myelin and axonal loss, axonal spheroids, and macrophages with early and severe frontal white matter involvement. The extent and degree of changes outside the frontal lobe appeared to correlate with disease duration. The prominent neurobehavioral deficits and frontal white matter disease provides clinical-pathologic support for association pathways linking distributed neural circuits subserving cognition. These observations lend further support to the notion that white matter disease alone can account for dementia. PMID:18422757

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

    Directory of Open Access Journals (Sweden)

    Carol Dillon

    2009-10-01

    Full Text Available Carol Dillon1, Ricardo F Allegri2, Cecilia M Serrano1, Mónica Iturry1, Pablo Salgado1, Frank B Glaser1, Fernando E Taragano21Memory Research Center, Department of Neurology, Hospital General Abel Zubizarreta, GCBA Buenos Aires, Argentina; 2Department of Neuropsychology (SIREN, CEMIC University, Buenos Aires, ArgentinaObjective: 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 lateonset 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.Keywords: early- and late-onset depression, geriatrics, cognition

  9. Early onset intellectual disability in chromosome 22q11.2 deletion syndrome.

    Science.gov (United States)

    Cascella, Marco; Muzio, Maria Rosaria

    2015-01-01

    Chromosome 22q11.2 deletion syndrome, or DiGeorge syndrome, or velocardiofacial syndrome, is one of the most common multiple anomaly syndromes in humans. This syndrome is commonly caused by a microdelection from chromosome 22 at band q11.2. Although this genetic disorder may reflect several clinical abnormalities and different degrees of organ commitment, the clinical features that have driven the greatest amount of attention are behavioral and developmental features, because individuals with 22q11.2 deletion syndrome have a 30-fold risk of developing schizophrenia. There are differing opinions about the cognitive development, and commonly a cognitive decline rather than an early onset intellectual disability has been observed. We report a case of 22q11.2 deletion syndrome with both early assessment of mild intellectual disabilities and tetralogy of Fallot as the only physic manifestation. Copyright © 2015 Sociedad Chilena de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

  10. Early Onset of Laying and Bumblefoot Favor Keel Bone Fractures

    Directory of Open Access Journals (Sweden)

    Sabine G. Gebhardt-Henrich

    2015-11-01

    Full Text Available Numerous studies have demonstrated influences of hybrid, feed, and housing on prevalence of keel bone fractures, but influences of behavior and production on an individual level are less known. In this longitudinal study, 80 white and brown laying hens were regularly checked for keel bone deviations and fractures while egg production was individually monitored using Radio Frequency Identification (RFID from production until depopulation at 65 weeks of age. These focal birds were kept in eight pens with 20 hens per pen in total. About 62% of the hens had broken keel bones at depopulation. The occurrence of new fractures was temporally linked to egg laying: more new fractures occurred during the time when laying rates were highest. Hens with fractured keel bones at depopulation had laid their first egg earlier than hens with intact keel bones. However, the total number of eggs was neither correlated with the onset of egg laying nor with keel bone fractures. All birds with bumblefoot on both feet had a fracture at depopulation. Hens stayed in the nest for a longer time during egg laying during the ten days after the fracture than during the ten days before the fracture. In conclusion, a relationship between laying rates and keel bone fractures seems likely.

  11. Early-Onset Chronic Inflammatory Disease Associated with Maternal Microchimerism

    Directory of Open Access Journals (Sweden)

    Tomoaki Ishikawa

    2012-01-01

    Full Text Available 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.

  12. Early-Onset Invasive Candidiasis in Extremely Low Birth Weight Infants: Perinatal Acquisition Predicts Poor Outcome.

    Science.gov (United States)

    Barton, Michelle; Shen, Alex; O'Brien, Karel; Robinson, Joan L; Davies, H Dele; Simpson, Kim; Asztalos, Elizabeth; Langley, Joanne; Le Saux, Nicole; Sauve, Reginald; Synnes, Anne; Tan, Ben; de Repentigny, Louis; Rubin, Earl; Hui, Chuck; Kovacs, Lajos; Yau, Yvonne C W; Richardson, Susan E

    2017-04-01

    Neonatal invasive candidiasis (IC) presenting in the first week of life is less common and less well described than later-onset IC. Risk factors, clinical features, and disease outcomes have not been studied in early-onset disease (EOD, ≤7 days) or compared to late-onset disease (LOD, >7 days). All extremely low birth weight (ELBW, candidiasis enrolled from 2001 to 2003 were included in this study. Factors associated with occurrence and outcome of EOD in ELBW infants were determined. Forty-five ELBW infants and their 84 matched controls were included. Fourteen (31%) ELBW infants had EOD. Birth weight <750 g, gestation <25 weeks, chorioamnionitis, and vaginal delivery were all strongly associated with EOD. Infection with Candida albicans, disseminated disease, pneumonia, and cardiovascular disease were significantly more common in EOD than in LOD. The EOD case fatality rate (71%) was higher than in LOD (32%) or controls (15%) (P = .0001). The rate of neurodevelopmental impairment and mortality combined was similar in EOD (86%) and LOD (72%), but higher than in controls (32%; P = .007). ELBW infants with EOD have a very poor prognosis compared to those with LOD. The role of perinatal transmission in EOD is supported by its association with chorioamnionitis, vaginal delivery, and pneumonia. Dissemination and cardiovascular involvement are common, and affected infants often die. Empiric treatment should be considered for ELBW infants delivered vaginally who have pneumonia and whose mothers have chorioamnionitis or an intrauterine foreign body. © The Author 2017. Published by Oxford University Press for the Infectious Diseases Society of America. All rights reserved. For permissions, e-mail: journals.permissions@oup.com.

  13. Myoclonus in childhood-onset neurogenetic disorders: The importance of early identification and treatment

    NARCIS (Netherlands)

    Egmond, M.E. van; Elting, J.W.; Kuiper, A.; Zutt, R.; Heineman, K.R.; Brouwer, O.F.; Sival, D.A.; Willemsen, M.A.A.P.; Tijssen, M.A.; Koning, T.J. de

    2015-01-01

    BACKGROUND: In clinical practice, myoclonus in childhood-onset neurogenetic disorders frequently remains unrecognized, because it is often overshadowed by other neurological features. Since treatment can lead to significant functional improvement, accurate phenotyping is essential. To demonstrate

  14. Early Onset of Laying and Bumblefoot Favor Keel Bone Fractures

    Science.gov (United States)

    Gebhardt-Henrich, Sabine G.; Fröhlich, Ernst K. F.

    2015-01-01

    Simple Summary Numerous studies have documented a high prevalence of keel bone fractures in laying hens. In this longitudinal study, 80 white and brown laying hens were regularly checked for keel bone deviations and fractures while egg production was individually monitored. About 62% of the hens had broken keel bones at depopulation. More new fractures occurred during the time when laying rates were highest. Hens with broken keel bones at depopulation had laid their first egg earlier than hens with intact keel bones. All birds with bumblefoot on both feet had a fracture at depopulation. Abstract Numerous studies have demonstrated influences of hybrid, feed, and housing on prevalence of keel bone fractures, but influences of behavior and production on an individual level are less known. In this longitudinal study, 80 white and brown laying hens were regularly checked for keel bone deviations and fractures while egg production was individually monitored using Radio Frequency Identification (RFID) from production until depopulation at 65 weeks of age. These focal birds were kept in eight pens with 20 hens per pen in total. About 62% of the hens had broken keel bones at depopulation. The occurrence of new fractures was temporally linked to egg laying: more new fractures occurred during the time when laying rates were highest. Hens with fractured keel bones at depopulation had laid their first egg earlier than hens with intact keel bones. However, the total number of eggs was neither correlated with the onset of egg laying nor with keel bone fractures. All birds with bumblefoot on both feet had a fracture at depopulation. Hens stayed in the nest for a longer time during egg laying during the ten days after the fracture than during the ten days before the fracture. In conclusion, a relationship between laying rates and keel bone fractures seems likely. PMID:26633520

  15. The Use of Cannabis as a Predictor of Early Onset of Bipolar Disorder and Suicide Attempts

    Directory of Open Access Journals (Sweden)

    Rafaela Torres Portugal Leite

    2015-01-01

    Full Text Available Introduction. Bipolar disorder (BD implies risk of suicide. The age at onset (AAO of BD carries prognostic significance. Substance abuse may precede the onset of BD and cannabis is the most common illicit drug used. The main goal of this study is to review the association of cannabis use as a risk factor for early onset of BD and for suicide attempts. Materials and Methods. PubMed database was searched for articles using key words “bipolar disorder,” “suicide attempts,” “cannabis,” “marijuana,” “early age at onset,” and “early onset.” Results. The following percentages in bipolar patients were found: suicide attempts 3.6–42%; suicide attempts and substance use 5–60%; suicide attempts and cannabis use 15–42%. An early AAO was associated with cannabis misuse. The mean age of the first manic episode in individuals with and without BD and cannabis use disorder (CUD was 19.5 and 25.1 years, respectively. The first depressive episode was at 18.5 and 24.4 years, respectively. Individuals misusing cannabis showed increased risk of suicide. Discussion. Cannabis use is associated with increased risk of suicide attempts and with early AAO. However, the effect of cannabis at the AAO and suicide attempts is not clear.

  16. The Use of Cannabis as a Predictor of Early Onset of Bipolar Disorder and Suicide Attempts.

    Science.gov (United States)

    Leite, Rafaela Torres Portugal; Nogueira, Sarah de Oliveira; do Nascimento, João Paulo Rodrigues; de Lima, Laisa Soares; da Nóbrega, Taís Bastos; Virgínio, Mariana da Silva; Moreno, Lucas Monte da Costa; Sampaio, Bruno Henrique Barbosa; de Matos E Souza, Fábio Gomes

    2015-01-01

    Introduction. Bipolar disorder (BD) implies risk of suicide. The age at onset (AAO) of BD carries prognostic significance. Substance abuse may precede the onset of BD and cannabis is the most common illicit drug used. The main goal of this study is to review the association of cannabis use as a risk factor for early onset of BD and for suicide attempts. Materials and Methods. PubMed database was searched for articles using key words "bipolar disorder," "suicide attempts," "cannabis," "marijuana," "early age at onset," and "early onset." Results. The following percentages in bipolar patients were found: suicide attempts 3.6-42%; suicide attempts and substance use 5-60%; suicide attempts and cannabis use 15-42%. An early AAO was associated with cannabis misuse. The mean age of the first manic episode in individuals with and without BD and cannabis use disorder (CUD) was 19.5 and 25.1 years, respectively. The first depressive episode was at 18.5 and 24.4 years, respectively. Individuals misusing cannabis showed increased risk of suicide. Discussion. Cannabis use is associated with increased risk of suicide attempts and with early AAO. However, the effect of cannabis at the AAO and suicide attempts is not clear.

  17. Early-onset Lyme carditis with concurrent disseminated erythema migrans.

    Science.gov (United States)

    Patel, Kinjan P; Farjo, Peter D; Juskowich, Joy J; Hama Amin, Ali; Mills, James D

    2017-01-01

    Lyme disease is an infection that is estimated to affect over 300,000 people in the United States annually. Typically, it presents with erythema migrans (EM), an annular rash at the site of tick attachment, within 3 to 30 days of inoculation. Untreated patients may progress to early disseminated disease. A further complication, Lyme carditis is rare but may occur several weeks later. It commonly manifests as a variable atrioventricular (AV) conduction block, with a high-grade AV block occurring in only 1% of untreated patients. This case demonstrates an unusually early presentation of Lyme carditis with complete heart block. A 21-year-old male was transferred from an outside emergency department (ED) for possible pacemaker placement due to symptomatic third-degree AV block. Four days earlier the patient presented to the outside ED with fever, chills, and unrecognized EM on his right neck. He was discharged with antipyretics, but no antibiotic therapy. On the day of transfer, he returned with persistent fevers, EM now on his trunk and upper extremities, lightheadedness, and substernal chest pressure. An electrocardiogram revealed the third-degree AV block leading to transfer. Upon arrival, the patient was promptly diagnosed with Lyme carditis. Pacemaker implantation was deferred, and intravenous (IV) ceftriaxone was initiated. Within 48 hours his third-degree AV block improved to a first-degree block. By this time, his EM had also resolved. He was discharged with oral doxycycline and a 30-day event monitor, which ultimately showed persistent first-degree AV block. This case reinforces a unique presentation of Lyme carditis. Disseminated EM and Lyme carditis may present concurrently within 2 weeks of tick attachment. Early recognition and treatment is important for preventing progression to disseminated infection. Lyme-associated AV block will reverse within 48 to 72 hours of initiating IV antibiotic therapy and will not require pacemaker implantation. Lyme carditis

  18. An examination of the Clinical Impairment Assessment among women at high risk for eating disorder onset

    Science.gov (United States)

    Vannucci, Anna; Kass, Andrea E.; Sinton, Meghan M.; Aspen, Vandana; Weisman, Hannah; Bailey, Jakki O.; Wilfley, Denise E.; Taylor, C. Barr

    2013-01-01

    Identifying measures that reliably and validly assess clinical impairment has important implications for eating disorder (ED) diagnosis and treatment. The current study examined the psychometric properties of the Clinical Impairment Assessment (CIA) in women at high risk for ED onset. Participants were 543 women (20.6 ± 2.0 years) who were classified into one of three ED categories: clinical ED, high risk for ED onset, and low risk control. Among high risk women, the CIA demonstrated high internal consistency (α = 0.93) and good convergent validity with disordered eating attitudes (rs = 0.27–0.68, ps < 0.001). Examination of the CIA’s discriminant validity revealed that CIA global scores were highest among women with a clinical ED (17.7 ± 10.7) followed by high risk women (10.6 ± 8.5) and low risk controls (3.0 ± 3.3), respectively (p < 0.001). High risk women reporting behavioral indices of ED psychopathology (objective and/or subjective binge episodes, purging behaviors, driven exercise, and ED treatment history) had higher CIA global scores than those without such indices (ps < 0.05), suggesting good criterion validity. These data establish the first norms for the CIA in a United States sample. The CIA is psychometrically sound among high risk women, and heightened levels of impairment among these individuals as compared to low risk women verify the relevance of early intervention efforts. PMID:22516320

  19. Exploring reasons for late identification of children with early-onset hearing loss.

    Science.gov (United States)

    Fitzpatrick, Elizabeth M; Dos Santos, Johnny Cesconetto; Grandpierre, Viviane; Whittingham, JoAnne

    2017-09-01

    Several studies have shown that early identification of childhood hearing loss leads to better language outcomes. However, delays in the confirmation of hearing loss persist even in the presence of well-established universal newborn hearing screening programs (UNHS). The objective of this population-based study was to document the proportion of children who experienced delayed confirmation of congenital and early onset hearing loss in a UNHS program in one region of Canada. The study also sought to determine the reasons for delayed confirmation of hearing loss in children. Population level data related to age of first assessment, age of identification and clinical characteristics were collected prospectively for all children identified through the UNHS program. We documented the number of children who experienced delay (defined as more than 3 months) from initial audiologic assessment to confirmation of hearing loss. A detailed chart review was subsequently performed to examine the reasons for delay to confirmation. Of 418 children identified from 2003 to 2013, 182 (43.5%) presented with congenital or early onset hearing loss, of whom 30 (16.5%) experienced more than 3 months delay from initial audiologic assessment to confirmation of their hearing disorder. The median age of first assessment and confirmation of hearing loss for these 30 children was 3.7 months (IQR: 2.0, 7.6) and 13.8 months (IQR: 9.7, 26.1) respectively. Close examination of the factors related to delay to confirmation revealed that for the overwhelming majority of children, a constellation of factors contributed to late diagnosis. Several children (n = 22; 73.3%) presented with developmental/medical issues, 15 of whom also had middle ear dysfunction at assessment, and 9 of whom had documented family follow-up concerns. For the remaining eight children, additional reasons included ongoing middle ear dysfunction for five children, complicated by family follow-up concerns (n = 3) and mild

  20. The onset of galactic winds in early-type galaxies

    Science.gov (United States)

    Jones, Christine

    1992-01-01

    We completed the spectral analysis of 31 early-type galaxies to investigate whether their x-ray emission was predominantly due to thermal bremsstrahlung from a hot gaseous corona or emission from discrete, galactic sources such as x-ray binaries. If a corona dominates the x-ray emission, its spectra is expected to be relatively cool (0.5 - 1 keV) compared to the harder emission associated with x-ray binaries in our galaxy, the Magellanic Clouds and M31. While it is generally accepted that the x-ray emission in luminous E and S0 galaxies arises from hot coronae, the status of hot gas in lower luminosity (and hence lower mass) galaxies is less clear. Calculations show that, for a given supernova rate, a critical galaxy luminosity (mass) exists below which the gas cannot be gravitationally confined and a galactic wind is predicted to be effective in expelling gas from the galaxy. Since significant mass (a dark halo) is required to hold a hot, gaseous corona around a galaxy, we expect that the faintest, smallest galaxies will not have a hot corona, but their x-ray emission will be dominated by galactic sources or by an active galactic nuclei. In the sample we tested which spanned the absolute magnitude range from -21.5 to -19.5, we found that except for two galaxies whose x-ray emission was dominated by an active nucleus, that the others were consistent with emission from hot gas. We also found that there is a correlation between gas temperature and galaxy magnitude (mass), such that the brighter, more luminous galaxies have hotter gas temperatures. Thus even at relatively faint magnitudes, the dominant emission from early-type galaxies appears to be hot gas. We also carried out an investigation of the x-ray surface brightness distribution of the x-ray emission for about 100 early type galaxies to determine whether the x-ray emission from galaxies are extended. Extended x-ray emission is expected if the emission is due to a hot gaseous corona. We determined the ratio

  1. Epileptic spasms and early-onset photosensitive epilepsy in Patau syndrome: An EEG study.

    Science.gov (United States)

    Spagnoli, Carlotta; Kugathasan, Umaiyal; Brittain, Helen; Boyd, Stewart G

    2015-08-01

    Patau syndrome, trisomy 13, is the third commonest autosomal trisomy. It is associated with a 25-50% prevalence of epilepsy, but detailed electroclinical descriptions are rare. The occurrence of early-onset photosensitivity has recently been reported in single patients. We collected electroclinical data on 8 infants (age range from 2 months to 3 years and 9 months, median: 17 months) with Patau syndrome referred for an EEG in our Clinical Neurophysiology Department between 1991 and 2011. All EEGs, case-notes, cytogenetic diagnosis and neuroimaging when available were reviewed; data on the occurrence of seizures, epileptiform discharges, photoparoxysmal response and their characteristics in terms of positive frequencies, latencies, grade and duration were noted and analysed. Two patients had been previously diagnosed with epilepsy (one with tonic spasms and one with multiple seizure types). We found 3 patients with photosensitive myoclonic epilepsy (37.5%), and one with non-photosensitive myoclonic epilepsy. We also recorded non-epileptic myoclonic jerks in one patient known to suffer from epileptic spasms. Among photosensitive patients we found self-limited, Waltz's grade 2-4, spike-wave/polyspike-wave discharges in low, medium and high frequency ranges in two patients and in the high frequency range in the third patient, with latencies and duration from less than 1s to a maximum of 9s. In our cohort of Patau syndrome patients, we found a high prevalence of spasms and photic-induced myoclonic jerks. Photosensitivity shows an unusual early age of onset. Copyright © 2014 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

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

    Science.gov (United States)

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

    2012-01-01

    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 (χ2 = 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) (χ2 = 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

  3. Early-onset baldness and the risk of aggressive prostate cancer: findings from a case-control study.

    Science.gov (United States)

    Papa, Nathan P; MacInnis, Robert J; English, Dallas R; Bolton, Damien; Davis, Ian D; Lawrentschuk, Nathan; Millar, Jeremy L; Severi, Gianluca; Hopper, John L; Giles, Graham G

    2018-01-01

    We aimed to evaluate the associations between androgenetic alopecia at a young age and subsequent development of aggressive prostate cancer (PC). Using a case-control design with self-administered questionnaire, we evaluated the association between aggressive PC and very early-onset balding at age 20, and early-onset balding at age 40 years in 1,941 men. Cases were men with high-grade and/or advanced stage cancer and controls were clinic based men who had undergone biopsy and were found to be histologically cancer negative. Additionally, for cases we assessed whether early-onset balding was associated with earlier onset of disease. Men with very early-onset balding at age 20 years were at increased risk for subsequent aggressive PC [odds ratio (OR) 1.51, 95% confidence interval (CI) 1.07-2.12] after adjustment for age at baseline, family history of PC, smoking status, alcohol intake, body shape, timing of growth spurt and ejaculatory frequency. Additionally, these men were diagnosed with PC approximately 16 months earlier than cases without the exposure. The effect was present particularly for men with advanced stage pT3+ disease (OR 1.68, 95% CI 1.14-2.47) while men with organ-confined high-grade (8-10) PC did not exhibit the same relationship. No significant associations were observed for men who were balding at age 40 years, given no balding at age 20. Men with androgenetic alopecia at age 20 years are at increased risk of advanced stage PC. This small subset of men are potentially candidates for earlier screening and urological follow-up.

  4. Early onset of mycosis fungoides. Case from practice

    Directory of Open Access Journals (Sweden)

    D. V. Zaslavsky

    2015-01-01

    Full Text Available Clinical and morphological heterogeneity of malignant lymphoproliferative lesions of the skin is explained by the peculiarities of their pathogenesis and organization of the lymphoid tissue in the skin. These features determine the authenticity of therapeutic approaches to patients with this pathology and exclude the use of standard regimens of polychemotherapy used in oncology due to their low efficacy. The authors describe a case study of a suberythrodermic form of mycosis fungoides in a 16-year-old female patient.

  5. Early-onset anorexia nervosa in girls with Asperger syndrome.

    Science.gov (United States)

    Dudova, Iva; Kocourkova, Jana; Koutek, Jiri

    2015-01-01

    Eating disorders frequently occur in conjunction with autism spectrum disorders, posing diagnostic and therapeutic difficulties. The comorbidity of anorexia nervosa and Asperger syndrome is a significant clinical complication and has been associated with a poorer prognosis. The authors are presenting the cases of an eleven-year-old girl and a five-and-a-half-year-old girl with comorbid eating disorders and Asperger syndrome.

  6. Multiple sclerosis with early childhood onset: a case report

    Directory of Open Access Journals (Sweden)

    Maria Isabel Campos Vergani

    1988-06-01

    Full Text Available A 2 year old boy was admitted owing to a subacute episode of ataxic gait and hearing deficit. Computerized tomography (CT was normal and cerebrospinal fluid (CSF analysis revealed gamma globul.ns level of 15.4% (normal 7 to 14%. There was spontaneous remission after 7 months. At 5 years of age the boy incurred a second episode with predominantly right apendicular ataxia and tonic gaze deviation to the right side. CT showed a low-density lesion in the white matter adjacent to the right frontal horn. Visual and auditory evoked potentials were abnormal. CSF revealed a mild increase in gamma globulins level of 14.5% with an abnormal T lymphocyte subsets study. The combination of visual, cerebellar, brain stem and paraventricular lesions with clear remissions and exacerbations, supported by CT, CSF and evoked potentials findings suggests the diagnosis of multiple sclerosis even at this early age.

  7. Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A.

    Science.gov (United States)

    Lebrun, Nicolas; Lebon, Sébastien; Jeannet, Pierre-Yves; Jacquemont, Sébastien; Billuart, Pierre; Bienvenu, Thierry

    2015-12-01

    We report on the clinical and molecular characterization of a female patient with early-onset epileptic encephalopathy, who was found to carry a de novo novel splice site mutation in SMC1A. This girl shared some morphologic and anthropometric traits described in patients with clinical diagnosis of Cornelia de Lange syndrome and with SMC1A mutation but also has severe encephalopathy with early-onset epilepsy. In addition, she had midline hand stereotypies and scoliosis leading to the misdiagnosis of a Rett overlap syndrome. Molecular studies found a novel de novo splice site mutation (c.1911 + 1G > T) in SMC1A. This novel splice mutation was associated with an aberrantly processed mRNA that included intron 11 of the gene. Moreover, quantitative approach by RT-PCR showed a severe reduction of the SMC1A transcript suggesting that this aberrant transcript may be unstable and degraded. Taken together, our data suggest that the phenotype may be due to a loss-of-function of SMC1A in this patient. Our findings suggest that loss-of-function mutations of SMC1A may be associated with early-onset encephalopathy with epilepsy. © 2015 Wiley Periodicals, Inc.

  8. Radiation induced early onset of neuro-cognitive changes

    International Nuclear Information System (INIS)

    Kumar, Mayank; Haridas, Seenu; Gupta, Mamta; Trivedi, Richa; Khushu, Subhash; Manda, Kailash

    2012-01-01

    Exposure to ionizing radiations has been shown to cause many detrimental effects. Primarily, the effects observed are broadly classified into hematopoietic syndrome at lower doses, gastrointestinal syndrome and central nervous system dysfunctions at high doses. However, recent studies reported that even at lower doses, there is an effect seen on the nervous system which can be observed as a decline in cognitive abilities. This has been reported in patients undergoing radiotherapy. The cognitive decline, especially in young patients affects development and has been shown to persist for years after the therapy. Thus, the aim of this study was to study and consolidate the early effects of radiation exposure which result in behavioural alterations and cognitive decline. Since, radiation-induced early changes in behavioural functions are poorly understood, therefore, the present investigation aimed to conceptualize and design behavioural test batteries in order to systematically study the immediate alterations in behavioural function following irradiation with a-rays. The behavioural alterations were correlated to changes in the different area of brain like hippocampus, thalamus, hypothalamus and corpus callosum using Diffusion Tensor Imaging (DTI) studies. Present study reported profound changes in behaviour, as well as alterations in the morphology of the brain tissue as perceived by DTI, 48 hours after exposure to ionizing radiations. These changes need to be correlated and clarified further to understand the mechanisms behind the cognitive dysfunctions occurring immediately after radiation exposure as well as to find out a therapeutic window to counteract or reduce the effect of long term cognitive changes following irradiation. (author)

  9. Early-onset stroke with moyamoya-like syndrome and extraneurological signs: a first reported paediatric series

    International Nuclear Information System (INIS)

    Law-ye, Bruno; Saliou, Guillaume; Toulgoat, Frederique; Tardieu, Marc; Deiva, Kumaran; Adamsbaum, Catherine; Husson, Beatrice

    2016-01-01

    Moyamoya syndrome is characterised by an occlusion of the carotid terminations with the development of collateral vessels. Our objective is to describe a series of infants presenting early-onset moyamoya-like syndrome, which may constitute a distinct entity. From a cohort of children with rare cerebral vascular pathologies, we studied eight infants (28 days-1 year) with early-onset moyamoya-like syndrome demonstrated by angiography. We retrospectively analysed the patterns on MRI and MRA, as well as all other available data. Median age at diagnosis was 7 months (IQR: 6-8) with arterial ischaemic stroke in the middle cerebral artery territory. All of the children experienced severe stroke recurrence within a median time of 11 months (IQR: 10-12), and all showed extraneurological symptoms. The anterior cerebral circulation was involved in all cases and the posterior circulation was involved in six. Two children died and all of the other children suffered permanent neurological deficits. The presence of extraneurological signs in cases of early-onset moyamoya syndrome is suggestive of a newly described systemic vasculopathy with predominantly cerebrovascular expression. Given its rapid progression marked by severe recurrent strokes and poor clinical outcome, early diagnosis could help in the decision to institute aggressive therapy. (orig.)

  10. Bad Roots to Grow: Deficient Implicit Self-Evaluations in Chronic Depression With an Early Onset.

    Science.gov (United States)

    van Randenborgh, Annette; Pawelzik, Markus; Quirin, Markus; Kuhl, Julius

    2016-06-01

    Implicit self-esteem, which is based on associative learning processes, is considered to be constituted earlier in life than explicit, verbalized self-esteem. While depressed individuals report negative explicit self-esteem, research has predominantly demonstrated equivalent levels of implicit self-esteem of depressed and healthy individuals. We further illuminate this finding by theorizing and empirically demonstrating that chronically depressed individuals show particularly low levels of implicit self-esteem when depression had an early onset. We applied measures of implicit (name-letter test) and explicit (Rosenberg Self-Esteem Scale) self-esteem in chronically depressed patients with an early onset (N = 17), a late onset (N = 13), and an episodic depression (N = 29). As expected, patients with an early onset showed lower implicit self-esteem than the 2 other groups. Implicit self-esteem may function as a marker of how deeply negative self-views are internalized. Furthermore, the distinction between early and late onset of chronic depression seems to be valuable for classification and potentially treatment of unipolar depression. © 2016 Wiley Periodicals, Inc.

  11. Loss of Nfkb1 leads to early onset aging.

    Science.gov (United States)

    Bernal, Giovanna M; Wahlstrom, Joshua S; Crawley, Clayton D; Cahill, Kirk E; Pytel, Peter; Liang, Hua; Kang, Shijun; Weichselbaum, Ralph R; Yamini, Bakhtiar

    2014-11-01

    NF-κB is a major regulator of age-dependent gene expression and the p50/NF-κB1 subunit is an integral modulator of NF-κB signaling. Here, we examined Nfkb1-/- mice to investigate the relationship between this subunit and aging. Although Nfkb1-/- mice appear similar to littermates at six months of age, by 12 months they have a higher incidence of several observable age-related phenotypes. In addition, aged Nfkb1-/- animals have increased kyphosis, decreased cortical bone, increased brain GFAP staining and a decrease in overall lifespan compared to Nfkb1+/+. In vitro, serially passaged primary Nfkb1-/- MEFs have more senescent cells than comparable Nfkb1+/+ MEFs. Also, Nfkb1-/- MEFs have greater amounts of phospho-H2AX foci and lower levels of spontaneous apoptosis than Nfkb1+/+, findings that are mirrored in the brains of Nfkb1-/- animals compared to Nfkb1+/+. Finally, in wildtype animals a substantial decrease in p50 DNA binding is seen in aged tissue compared to young. Together, these data show that loss of Nfkb1 leads to early animal aging that is associated with reduced apoptosis and increased cellular senescence. Moreover, loss of p50 DNA binding is a prominent feature of aged mice relative to young. These findings support the strong link between the NF-κB pathway and mammalian aging.

  12. Early onset polymyalgia rheumatica: two rare cases under age of 50

    Energy Technology Data Exchange (ETDEWEB)

    Park, Jinyoung [Yonsei University College of Medicine, Department of Rehabilitation Medicine, Gangnam Severance Hospital, Rehabilitation Institute of Neuromuscular Disease, Seoul (Korea, Republic of); Sung, Duk Hyun [Samsung Medical Center, Department of Physical and Rehabilitation Medicine, Sungkyunkwan University School of Medicine, Gangnam-gu, Seoul (Korea, Republic of)

    2017-06-15

    Polymyalgia rheumatica (PMR) is almost an exclusive disease of adults over the age of 50, and only a few cases have been reported. Two 46-year-old females visited our locomotor pain clinic with multiple joint pain with increased acute phase reactants. Rheumatologic markers, and HLA-B27 were checked. Serum protein electrophoresis and serum immunofixation electrophoresis, imaging studies including plane image, sonography, and magnetic resonance image was done. {sup 18}F-Fludeoxyglucose positron emission tomography/computed tomography (FDG-PET/CT) showed characteristic findings of PMR, without evidences of sacroiliitis. Since PMR can develop in mid 40s, a high index of suspicion is necessary in younger patients presenting the bilateral pain in shoulders, hips, and back, with elevated acute phase reactants. Furthermore, in addition to the previous case reports, FDG-PET/CT is helpful in making early differential diagnosis of PMR in patients under the age of 50. Here we present two cases of PMR onset in the mid-40s emphasizing the importance of diagnostic imaging for early differential diagnosis in PMR. (orig.)

  13. Hybrid Model for Early Onset Prediction of Driver Fatigue with Observable Cues

    Directory of Open Access Journals (Sweden)

    Mingheng Zhang

    2014-01-01

    Full Text Available This paper presents a hybrid model for early onset prediction of driver fatigue, which is the major reason of severe traffic accidents. The proposed method divides the prediction problem into three stages, that is, SVM-based model for predicting the early onset driver fatigue state, GA-based model for optimizing the parameters in the SVM, and PCA-based model for reducing the dimensionality of the complex features datasets. The model and algorithm are illustrated with driving experiment data and comparison results also show that the hybrid method can generally provide a better performance for driver fatigue state prediction.

  14. Risk of early-onset prostate cancer associated with occupation in the Nordic countries

    DEFF Research Database (Denmark)

    Hughes Barry, Kathryn; Martinsen, Jan Ivar; Alavanja, Michael C. R.

    2017-01-01

    -49 and those aged 50 or older. We also conducted separate analyses by period of follow-up, 1961-1985 and 1986-2005, corresponding to pre- and post-prostate-specific antigen (PSA) screening. RESULTS: For early-onset prostate cancer (n = 1521), we observed the highest SIRs for public safety workers (e...... was restricted to the post-PSA period, that for military personnel was restricted to the pre-PSA period. CONCLUSION: Our results suggest that occupational exposures, particularly for military personnel, may be associated with early-onset prostate cancer. Further evaluation is needed to explain these findings....

  15. Treatment with anti-C5aR mAb leads to early-onset clinical and mechanistic effects in the murine delayed-type hypersensitivity arthritis model

    DEFF Research Database (Denmark)

    Atkinson, Sara Marie; Nansen, Anneline; Usher, Pernille A.

    2015-01-01

    Blockade of the complement cascade at the C5a/C5a receptor (C5aR)-axis is believed to be an attractive treatment avenue in rheumatoid arthritis (RA). However, the effects of such interventions during the early phases of arthritis remain to be clarified. In this study we use the murine delayed...... development in a DTHA model strengthening the rationale of C5aR-blockade as a treatment strategy for RA, especially during the early stages of arthritis flare....

  16. Utility of Early-Onset Sepsis Risk Calculator for Neonates Born to Mothers with Chorioamnionitis.

    Science.gov (United States)

    Carola, David; Vasconcellos, Mansi; Sloane, Amy; McElwee, Dorothy; Edwards, Caroline; Greenspan, Jay; Aghai, Zubair H

    2017-12-22

    To evaluate the performance of the early-onset sepsis (EOS) risk calculator in a cohort of neonates born to mothers with clinical chorioamnionitis, and to compare the diagnostic utility of the EOS calculator, clinical signs, and laboratory evaluations for correctly identifying EOS in this cohort. This was a retrospective study of neonates born at ≥35 weeks of gestation to mothers with chorioamnionitis. The risk and management categories for all neonates were calculated using the EOS calculator, and these results were analyzed and compared with laboratory data and clinical signs. Of the 1159 neonates born to mothers with chorioamnionitis, 5 (0.43%) had culture-proven EOS. Data for calculation of EOS risk were available for 896 neonates, including the 5 neonates with culture-proven EOS. The management recommendation based on the calculator was no empiric antibiotic treatment for 67% of the neonates, including 2 of the 5 with EOS. All neonates with culture-proven EOS had abnormal complete blood counts and C-reactive protein levels at 6-12 hours. Three of the 5 neonates with EOS had clinical signs of sepsis. The risk of EOS in neonates born to mothers with chorioamnionitis is low. The use of an EOS calculator may reduce the use of empiric antibiotics in chorioamnionitis-exposed neonates, but in our cohort, some neonates with culture-confirmed EOS would have been missed. A larger study is needed to evaluate whether limiting antibiotics to chorioamnionitis-exposed neonates with clinical and/or laboratory signs of infection can safely decrease antibiotic use. Copyright © 2017 Elsevier Inc. All rights reserved.

  17. Verbal and academic skills in children with early-onset type 1 diabetes.

    Science.gov (United States)

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

    2010-07-01

    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 comparison children. In addition, the incidence of dyslexia (children with early-onset diabetes (25 females, 26 males; mean age 9y 11mo, SD 4mo; range 9-10y) was compared with that of 92 children without diabetes (40 females, 52 males; mean age 9y 10mo, SD 3mo; range 9-10y) in the tasks of phonological processing, short-term memory, rapid automatized naming, reading, spelling, and mathematics. The performance of children with diabetes was poorer than that of the comparison children in phonological processing (p=0.001), spelling accuracy (pmathematics (p=0.024). They learned to read later (p=0.013), but reading performance and the incidence of dyslexia in the third grade (aged 9-10y) were similar in the two groups. Children with early-onset diabetes are prone to minor learning difficulties in their early school years as a result of deficits in phonological processing.

  18. Experiencing core symptoms of anxiety and unipolar mood disorders in late adolescence predicts disorder onset in early adulthood.

    Science.gov (United States)

    Wolitzky-Taylor, Kate; Dour, Halina; Zinbarg, Richard; Mineka, Susan; Vrshek-Schallhorn, Suzanne; Epstein, Alyssa; Bobova, Lyuba; Griffith, James; Waters, Allison; Nazarian, Maria; Rose, Raphael; Craske, Michelle G

    2014-03-01

    Identification of youth at risk for anxiety and unipolar mood disorders (UMDs) can improve public health by targeting those who may warrant early or preventive intervention. This study examined whether endorsing core features of anxiety and UMDs predicted onset of later anxiety and UMDs across the next 7-9 years, and whether having subthreshold or subclinical manifestations of these disorders similarly predicted onset. Data from this study come from the Youth Emotion Project (YEP), a two-site investigation of common and specific risk factors for emotional disorders. Endorsement of core features of a disorder and subclinical or subthreshold anxiety and UMD diagnoses were determined using data from the Structured Clinical Interview for DSM-IV (SCID) at the baseline assessment. Participants completed annual SCIDs over the course of the next 7-9 years (depending on cohort). Endorsement of panic attacks, obsessions and/or compulsions, and depression and/or anhedonia predicted onset of panic disorder, obsessive compulsive disorder, and major depressive disorder, respectively. When including all anxiety disorders in a model, only the presence of panic attacks uniquely predicted anxiety disorder onset. The presence of subclinical or subthreshold panic disorder, obsessive compulsive disorder, and social phobia at baseline predicted the full onset of these disorders over the follow-up period. Experiencing some symptoms of anxiety and UMDs in the absence of meeting diagnostic criteria is indicative of risk for later onsets of clinically significant DSM manifestations of these disorders. These individuals should be identified and targeted for prevention programs. © 2014 Wiley Periodicals, Inc.

  19. A neonate with intestinal volvulus without malrotation exhibiting early jaundice with a suspected fetal onset.

    Science.gov (United States)

    Hara, Kaori; Kinoshita, Mari; Kin, Takane; Arimitsu, Takeshi; Matsuzaki, Yohei; Ikeda, Kazushige; Tomita, Hiroshi; Fujino, Akihiro; Kuroda, Tatsuo

    2015-01-01

    Intestinal volvulus without malrotation is a rare disease that causes volvulus of the small intestine despite normal intestinal rotation and fixation. We encountered a neonate with this disease who developed early jaundice and was suspected to have a fetal onset. This patient was characterized by early jaundice complicating intestinal volvulus without malrotation and is considered to have exhibited reduced fetal movement and early jaundice as a result of volvulus, necrosis, and hemorrhage of the small intestine in the fetal period. If abdominal distention accompanied by early jaundice is noted in a neonate, intestinal volvulus without malrotation and associated intraabdominal hemorrhage should be suspected and promptly treated.

  20. A novel deleterious PTEN mutation in a patient with early-onset bilateral breast cancer

    International Nuclear Information System (INIS)

    Pradella, Laura Maria; Gasparre, Giuseppe; Turchetti, Daniela; Evangelisti, Cecilia; Ligorio, Claudia; Ceccarelli, Claudio; Neri, Iria; Zuntini, Roberta; Amato, Laura Benedetta; Ferrari, Simona; Martelli, Alberto Maria

    2014-01-01

    An early age at Breast Cancer (BC) onset may be a hallmark of inherited predisposition, but BRCA1/2 mutations are only found in a minority of younger BC patients. Among the others, a fraction may carry mutations in rarer BC genes, such as TP53, STK11, CDH1 and PTEN. As the identification of women harboring such mutations allows for targeted risk-management, the knowledge of associated manifestations and an accurate clinical and family history evaluation are warranted. We describe the case of a woman who developed an infiltrating ductal carcinoma of the right breast at the age of 32, a contralateral BC at age 36 and another BC of the right breast at 40. When she was 39 years-old, during a dermatological examination, mucocutaneous features suggestive of Cowden Syndrome, a disorder associated to germ-line PTEN mutations, were noticed. PTEN genetic testing revealed the novel c.71A > T (p.Asp24Val) mutation, whose deleterious effect, suggested by conservation data and in silico tools, was definitely demonstrated by the incapacity of mutant PTEN to inhibit Akt phosphorylation when used to complement PTEN-null cells. In BC tissue, despite the absence of LOH or somatic mutations of PTEN, Akt phosphorylation was markedly increased in comparison to normal tissue, thus implying additional somatic events into the deregulation of the PI3K/Akt/mTOR pathway and, presumably, into carcinogenesis. Hence, known oncogenic mutations in PIK3CA (exons 10 and 21) and AKT1 (exon 2) were screened in tumor DNA with negative results, which suggests that the responsible somatic event(s) is a different, uncommon one. This case stresses the importance of clinical/genetic assessment of early-onset BC patients in order to identify mutation carriers, who are at high risk of new events, so requiring tailored management. Moreover, it revealed a novel PTEN mutation with pathogenic effect, pointing out, however, the need for further efforts to elucidate the molecular steps of PTEN

  1. LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.

    Science.gov (United States)

    Oláhová, Monika; Hardy, Steven A; Hall, Julie; Yarham, John W; Haack, Tobias B; Wilson, William C; Alston, Charlotte L; He, Langping; Aznauryan, Erik; Brown, Ruth M; Brown, Garry K; Morris, Andrew A M; Mundy, Helen; Broomfield, Alex; Barbosa, Ines A; Simpson, Michael A; Deshpande, Charu; Moeslinger, Dorothea; Koch, Johannes; Stettner, Georg M; Bonnen, Penelope E; Prokisch, Holger; Lightowlers, Robert N; McFarland, Robert; Chrzanowska-Lightowlers, Zofia M A; Taylor, Robert W

    2015-12-01

    Mitochondrial Complex IV [cytochrome c oxidase (COX)] deficiency is one of the most common respiratory chain defects in humans. The clinical phenotypes associated with COX deficiency include liver disease, cardiomyopathy and Leigh syndrome, a neurodegenerative disorder characterized by bilateral high signal lesions in the brainstem and basal ganglia. COX deficiency can result from mutations affecting many different mitochondrial proteins. The French-Canadian variant of COX-deficient Leigh syndrome is unique to the Saguenay-Lac-Saint-Jean region of Québec and is caused by a founder mutation in the LRPPRC gene. This encodes the leucine-rich pentatricopeptide repeat domain protein (LRPPRC), which is involved in post-transcriptional regulation of mitochondrial gene expression. Here, we present the clinical and molecular characterization of novel, recessive LRPPRC gene mutations, identified using whole exome and candidate gene sequencing. The 10 patients come from seven unrelated families of UK-Caucasian, UK-Pakistani, UK-Indian, Turkish and Iraqi origin. They resemble the French-Canadian Leigh syndrome patients in having intermittent severe lactic acidosis and early-onset neurodevelopmental problems with episodes of deterioration. In addition, many of our patients have had neonatal cardiomyopathy or congenital malformations, most commonly affecting the heart and the brain. All patients who were tested had isolated COX deficiency in skeletal muscle. Functional characterization of patients' fibroblasts and skeletal muscle homogenates showed decreased levels of mutant LRPPRC protein and impaired Complex IV enzyme activity, associated with abnormal COX assembly and reduced steady-state levels of numerous oxidative phosphorylation subunits. We also identified a Complex I assembly defect in skeletal muscle, indicating different roles for LRPPRC in post-transcriptional regulation of mitochondrial mRNAs between tissues. Patient fibroblasts showed decreased steady-state levels

  2. Two novel connexin32 mutations cause early onset X-linked Charcot-Marie-Tooth disease

    Directory of Open Access Journals (Sweden)

    Sand Jette C

    2007-07-01

    Full Text Available Abstract Background X-linked Charcot-Marie Tooth (CMT is caused by mutations in the connexin32 gene that encodes a polypeptide which is arranged in hexameric array and form gap junctions. Methods We describe two novel mutations in the connexin32 gene in two Norwegian families. Results Family 1 had a c.225delG (R75fsX83 which causes a frameshift and premature stop codon at position 247. This probably results in a shorter non-functional protein structure. Affected individuals had an early age at onset usually in the first decade. The symptoms were more severe in men than women. All had severe muscle weakness in the legs. Several abortions were observed in this family. Family 2 had a c.536 G>A (C179Y transition which causes a change of the highly conserved cysteine residue, i.e. disruption of at least one of three disulfide bridges. The mean age at onset was in the first decade. Muscle wasting was severe and correlated with muscle weakness in legs. The men and one woman also had symptom from their hands. The neuropathy is demyelinating and the nerve conduction velocities were in the intermediate range (25–49 m/s. Affected individuals had symmetrical clinical findings, while the neurophysiology revealed minor asymmetrical findings in nerve conduction velocity in 6 of 10 affected individuals. Conclusion The two novel mutations in the connexin32 gene are more severe than the majority of previously described mutations possibly due to the severe structural change of the gap junction they encode.

  3. The association of with severe early-onset pre-eclampsia

    African Journals Online (AJOL)

    however also found no differences in APA levels between patients with severe early-onset pre-eclampsia and controls."lO Further, Kilpatrick et a/.'°state that even Branch et a/. 6 found ACAs in only 16% of their patients. In the present study, both ACA and LAC levels were assayed, and all 4 patients had significantly raised ...

  4. Needs in early onset dementia: A qualitative case from the NeedYD study.

    NARCIS (Netherlands)

    Bakker, C.; Vugt, M.E. de; Vernooij-Dassen, M.J.F.J.; Vliet, D. van; Verhey, F.R.J.; Koopmans, R.T.C.M.

    2010-01-01

    OBJECTIVES: The aim was to explore the experiences of a caregiver of a patient with early onset dementia (EOD) and the needs of patient and caregiver. METHODS: A single case study design was used to explore (1) unmet needs of patient and caregiver and (2) caregiver's experiences of transitions in

  5. Visual orientation in hospitalized boys with early onset conduct disorder and borderline intellectual functioning

    NARCIS (Netherlands)

    van der Meere, Jacob; Börger, Norbert; Pirila, Silja

    2012-01-01

    The aim of the present study is to investigate visual orientation in hospitalized boys with severe early onset conduct disorder and borderline intellectual functioning. It is tested whether boys with the dual diagnosis have a stronger action-oriented response style to visual-cued go signals than the

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

    Science.gov (United States)

    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

    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…

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

    Science.gov (United States)

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

    2012-01-01

    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),…

  8. Neutrophil CD64 in early-onset neonatal sepsis | El-Mazary ...

    African Journals Online (AJOL)

    Neutrophil CD64 in early-onset neonatal sepsis. Abdel-Azeem M El-Mazary, Mohame F Afifi, Sheren E Maher, Mohamed I Bassyouni. Abstract. Background: Neonatal sepsis is a life threatening disease with an incidence of 3.5 to 8 cases per 1,000 live births; and mortality rate 16 to 30%. Cytokines, produced by monocytes, ...

  9. The role of SLC2A1 in early onset and childhood absence epilepsies

    DEFF Research Database (Denmark)

    Muhle, Hiltrud; Helbig, Ingo; Frøslev, Tobias Guldberg

    2013-01-01

    Early Onset Absence Epilepsy constitutes an Idiopathic Generalized Epilepsy with absences starting before the age of four years. Mutations in SLC2A1, encoding the glucose transporter, account for approximately 10% of EOAE cases. The role of SLC2A1 mutations in absence epilepsies with a later onse...

  10. Precuneus atrophy in early-onset Alzheimer’s disease: a morphometric structural MRI study

    NARCIS (Netherlands)

    Karas, Giorgos; Scheltens, Philip; Rombouts, Serge; Schijndel, van Ronald; Klein, Martin; Jones, Bethany; Flier, van der Wiesje; Vrenken, Hugo; Barkhof, Frederik

    2007-01-01

    Introduction Alzheimer’s disease (AD) usually first presents in elderly patients, but may also develop at an earlier age. Patients with an early age at onset tend to present with complaints other than memory impairment, such as visuospatial problems or apraxia, which may reflect a different

  11. Early onset of cannabis use: Does personality modify the relation with changes in perceived parental involvement?

    NARCIS (Netherlands)

    Creemers, H.E.; Buil, J.M.; van Lier, P.A.C.; Keijsers, L.; Meeus, W.; Koot, H.M.; Huizink, A.C.

    2015-01-01

    Background: The present study examined (1) the association between changes in perceived parental control and support from age 13 to 15 and early onset of cannabis use (before age 16), and (2) whether personality modifies the association between a decline in perceived parental control and support and

  12. Early onset of cannabis use: Does personality modify the relation with changes in perceived parental involvement?

    NARCIS (Netherlands)

    Creemers, Hanneke E.; Buil, J. Marieke; van Lier, Pot A. C.; Keijsers, Loes; Meeus, W.H.J.; Koot, Hans M.; Huizink, Anja C.

    2015-01-01

    Background The present study examined (1) the association between changes in perceived parental control and support from age 13 to 15 and early onset of cannabis use (before age 16), and (2) whether personality modifies the association between a decline in perceived parental control and support and

  13. Reliability and discriminant validity of ataxia rating scales in early onset ataxia

    NARCIS (Netherlands)

    Brandsma, R.; Lawerman, T. F.; Kuiper, M. J.; Geffen, van Joke; Lunsing, I. J.; Burger, H.; de Koning, T. J.; de Vries, J. J.; de Koning-Tijssen, M. A. J.; Sival, D. A.

    Objective: To determine observer-agreement and discriminantvalidity of ataxia rating scales.Background: In children and young adults, Early Onset Ataxia(EOA) is frequently concurrent with other Movement Disorders,resulting in moderate inter-observer agreement among MovementDisorder professionals. To

  14. Assessment of speech in early-onset ataxia : a pilot study

    NARCIS (Netherlands)

    Kuiper, Marieke J.; Brandsma, Rick; Lawerman, T.F.; Lunsing, Roelineke J.; Keegstra, Anne L.; Burger, Huibert; De Koning, Tom J.; Tijssen, Marina A. J.; Sival, Deborah A.

    2014-01-01

    AIM: The aim of the study was to determine whether paediatric ataxia speech subscores are reliably applicable for international early-onset ataxia (EOA) databases. If so, we reasoned that ataxia speech subscores should be associated with ataxia scores and involve high interobserver agreement,

  15. Prognosis and response to laser treatment of early-onset hypertrophic port-wine stains (PWS).

    Science.gov (United States)

    Passeron, Thierry; Salhi, Aicha; Mazer, Jean-Michel; Lavogiez, Céline; Mazereeuw-Hautier, Juliette; Galliot, Chrystèle; Collet-Villette, Anne-Marie; Labreze, Christine; Boon, Laurence; Hardy, Jean-Philippe; Fayard, Virginie; Livideanu, Cristina Bulai; Toubel, Gérard; Georgescou, Gabriela; Gral, Nathalie; Maza, Aude; Lacour, Jean-Philippe

    2016-07-01

    There is limited information regarding early development of soft-tissue and/or bone hypertrophy with facial port-wine stains (PWS). We sought to characterize patients with hypertrophic PWS presenting during childhood. Patients with a facial PWS and underlying hypertrophy that developed before the age of 18 years were included in a multicenter retrospective study. Age at onset of the hypertrophy, its location, association with odontologic problems, presence of other associated complications, and response to laser treatment were recorded. A total of 98 patients were included. The mean age at onset of hypertrophy, retrieved for 77 of 98 patients, was 5.6 years. The hypertrophy was congenital in 26%. Odontologic problems were noted in 39.8% of cases. Other complications, including cataract, asymmetric development of the maxillary bone, and speech delay/disorders, were reported in 18.4%. In all, 67 patients received laser treatment. Only 3% achieved complete or nearly complete clearance of the PWS. As only cases of PWS with early-onset hypertrophy were included, we were unable to calculate the prevalence of this manifestation. PWS with early-onset hypertrophy are associated with a high rate of complications and a poor response to laser treatment. Periodic monitoring is recommended for early detection and treatment of complications. Copyright © 2016 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.

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

    DEFF Research Database (Denmark)

    Jepsen, Jens Richardt Møllegaard; Fagerlund, Birgitte; Pagsberg, Anne Katrine

    2010-01-01

    Only few prospective longitudinal studies have assessed the course of intelligence deficits in early onset schizophrenia (EOS), and these have used different age appropriate versions of Wechsler Intelligence Scales and age appropriate norms. The post-psychotic development of intelligence in EOS has...

  17. CD55 Deficiency, Early-Onset Protein-Losing Enteropathy, and Thrombosis

    NARCIS (Netherlands)

    Ozen, Ahmet; Comrie, William A; Ardy, Rico C; Domínguez Conde, Cecilia; Dalgic, Buket; Beser, Ömer F; Morawski, Aaron R; Karakoc-Aydiner, Elif; Tutar, Engin; Baris, Safa; Ozcay, Figen; Serwas, Nina K; Zhang, Yu; Matthews, Helen F; Pittaluga, Stefania; Folio, Les R; Unlusoy Aksu, Aysel; McElwee, Joshua J; Krolo, Ana; Kiykim, Ayca; Baris, Zeren; Gulsan, Meltem; Ogulur, Ismail; Snapper, Scott B; Houwen, Roderick H J; Leavis, Helen L; Ertem, Deniz; Kain, Renate; Sari, Sinan; Erkan, Tülay; Su, Helen C; Boztug, Kaan; Lenardo, Michael J

    2017-01-01

    BACKGROUND: Studies of monogenic gastrointestinal diseases have revealed molecular pathways critical to gut homeostasis and enabled the development of targeted therapies. METHODS: We studied 11 patients with abdominal pain and diarrhea caused by early-onset protein-losing enteropathy with primary

  18. Early-onset psychosis in an adolescent with DiGeorge syndrome: A ...

    African Journals Online (AJOL)

    2018-02-21

    Feb 21, 2018 ... raise awareness and demonstrate one of the varied ways the syndrome may present. The multifaceted nature of DGS presentation underscores the need for a multidisciplinary approach to treatment. Early-onset psychosis in an adolescent with. DiGeorge syndrome: A case report. Read online: Scan this QR.

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

    Science.gov (United States)

    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

    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…

  20. Management of Very Early-onset Fetal Growth Restriction: Results from 92 Consecutive Cases.

    Science.gov (United States)

    Hoellen, Friederike; Beckmann, Annika; Banz-Jansen, Constanze; Weichert, Jan; Rody, Achim; Bohlmann, Michael K

    2016-01-01

    To evaluate management of early-onset intrauterine growth restriction (IUGR) and to define outcome according to obstetric setting. During an 11-year period (2000-2011), data of patients presenting with IUGR and preterm delivery of less than 30 weeks of gestation at a tertiary perinatal center were retrospectively reviewed. A total of 92 pregnancies were investigated. Delivery was indicated for fetal reasons in 38 out of 92 patients. Sixteen children of our cohort died within one year post partum, out of which eight had suffered from severe early-onset IUGR causing iatrogenic preterm delivery. Concerning the fetal outcome, gestational age at delivery and antenatal exposure to corticosteroids were found to be crucial. In some cases, respiratory distress syndrome prophylaxis and a "wait and see" approach to management in favor of a prolongation of the pregnancy might be favorable. Randomized prospective trials in early-onset IUGR with threatened preterm deliveries are needed in order to define guidelines for an individually tailored management of early-onset preterm infants. Copyright © 2016 International Institute of Anticancer Research (Dr. John G. Delinassios), All rights reserved.

  1. Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy

    NARCIS (Netherlands)

    Ait-El-Mkadem, Samira; Dayem-Quere, Manal; Gusic, Mirjana; Chaussenot, Annabelle; Bannwarth, Sylvie; François, Bérengère; Genin, Emmanuelle C; Fragaki, Konstantina; Volker-Touw, Catharina L M; Vasnier, Christelle; Serre, Valérie; van Gassen, Koen L I; Lespinasse, Françoise; Richter, Susan; Eisenhofer, Graeme; Rouzier, Cécile; Mochel, Fanny; De Saint-Martin, Anne; Abi Warde, Marie-Thérèse; de Sain-van der Velden, Monique G M; Jans, Judith J M; Amiel, Jeanne; Avsec, Ziga; Mertes, Christian; Haack, Tobias B; Strom, Tim; Meitinger, Thomas; Bonnen, Penelope E; Taylor, Robert W; Gagneur, Julien; van Hasselt, Peter M; Rötig, Agnès; Delahodde, Agnès; Prokisch, Holger; Fuchs, Sabine A; Paquis-Flucklinger, Véronique

    2016-01-01

    MDH2 encodes mitochondrial malate dehydrogenase (MDH), which is essential for the conversion of malate to oxaloacetate as part of the proper functioning of the Krebs cycle. We report bi-allelic pathogenic mutations in MDH2 in three unrelated subjects presenting with early-onset generalized

  2. Early-onset periodontitis in Morocco is associated with the highly leukotoxic clone of Actinobacillus actinomycetemcomitans

    DEFF Research Database (Denmark)

    Haubek, Dorte; Ennibi, O.-K.; Poulsen, Knud

    2001-01-01

    A particular clone (JP2) of Actinobacillus actinomycetemcomitans with increased leukotoxin production has been isolated from individuals with early-onset periodontitis (EOP). The aim of this study was to determine the frequency of carriers of this clone and its association with EOP in Moroccan...

  3. CLINICAL MANIFESTATIONS OF VASCULITIS AT THE ONSET OF MULTIPLE MYELOMA

    Directory of Open Access Journals (Sweden)

    V I Vasil'ev

    2010-01-01

    Full Text Available The paper describes two patients (a 50-year woman and a 72-year man in whom the clinical manifestations of ulceronecrotic vasculitis had long preceded before the diagnosis of multiple myeloma was made. In the former, monoclonal cryoglobulinemia type I induced ulcerative lesions with the development of dry toe gangrene and paraproteinemic renal lesion. In the latter, ulceronecrotic vasculitis with the development of dry toe gangrene was a manifestation of monoclonal paraproteinemia without signs of cryoglobulinemia. Both patients were found to have monoclonal blood secretion (РIgGλ и РIgGκ and urine Bence Jones protein (BJλ+BJκ, BJκ in the absence of immunological markers of vasculitis developing in patients with rheumatic diseases. Immunochemical study of serum/urine and, when monoclonal secretion of PIg+BJ is detected, further examination for plasma cell dyscrasia should be performed in all cases of vascular disorders (cold allergy, Raynaud's syndrome, purpura, ulcers of cruses, and gangrene of distal phalanxes of the hands/feet in patients with atypical vasculitis. The timely immunochemical study of blood and urine will make it possible to diagnose plasma cell dyscrasia (different types of myelomic disease, Waldenstrцm macroglobulinemia, primary amyloidosis at the early stage of the disease and to rule out unjustifiably diagnosed vasculitis in patients with atypical vascular lesions.

  4. Novel mutations in the BRCA1 and BRCA2 genes in Iranian women with early-onset breast cancer

    International Nuclear Information System (INIS)

    Yassaee, Vahid R; Zeinali, Sirous; Harirchi, Iraj; Jarvandi, Soghra; Mohagheghi, Mohammad A; Hornby, David P; Dalton, Ann

    2002-01-01

    Breast cancer is the most common female malignancy and a major cause of death in middle-aged women. So far, germline mutations in the BRCA1 and BRCA2 genes in patients with early-onset breast and/or ovarian cancer have not been identified within the Iranian population. With the collaboration of two main centres for cancer in Iran, we obtained clinical information, family history and peripheral blood from 83 women under the age of 45 with early-onset breast cancer for scanning of germline mutations in the BRCA1 and BRCA2 genes. We analysed BRCA1 exons 11 and BRCA2 exons 10 and 11 by the protein truncation test, and BRCA1 exons 2, 3, 5, 13 and 20 and BRCA2 exons 9, 17, 18 and 23 with the single-strand conformation polymorphism assay on genomic DNA amplified by polymerase chain reaction. Ten sequence variants were identified: five frameshifts (putative mutations – four novel); three missense changes of unknown significance and two polymorphisms, one seen commonly in both Iranian and British populations. Identification of these novel mutations suggests that any given population should develop a mutation database for its programme of breast cancer screening. The pattern of mutations seen in the BRCA genes seems not to differ from other populations studied. Early-onset breast cancer (less than 45 years) and a limited family history is sufficient to justify mutation screening with a detection rate of over 25% in this group, whereas sporadic early-onset breast cancer (detection rate less than 5%) is unlikely to be cost-effective

  5. Development of a Multivariate Prediction Model for Early-Onset Bronchiolitis Obliterans Syndrome and Restrictive Allograft Syndrome in Lung Transplantation

    Directory of Open Access Journals (Sweden)

    Angela Koutsokera

    2017-07-01

    Full Text Available BackgroundChronic lung allograft dysfunction and its main phenotypes, bronchiolitis obliterans syndrome (BOS and restrictive allograft syndrome (RAS, are major causes of mortality after lung transplantation (LT. RAS and early-onset BOS, developing within 3 years after LT, are associated with particularly inferior clinical outcomes. Prediction models for early-onset BOS and RAS have not been previously described.MethodsLT recipients of the French and Swiss transplant cohorts were eligible for inclusion in the SysCLAD cohort if they were alive with at least 2 years of follow-up but less than 3 years, or if they died or were retransplanted at any time less than 3 years. These patients were assessed for early-onset BOS, RAS, or stable allograft function by an adjudication committee. Baseline characteristics, data on surgery, immunosuppression, and year-1 follow-up were collected. Prediction models for BOS and RAS were developed using multivariate logistic regression and multivariate multinomial analysis.ResultsAmong patients fulfilling the eligibility criteria, we identified 149 stable, 51 BOS, and 30 RAS subjects. The best prediction model for early-onset BOS and RAS included the underlying diagnosis, induction treatment, immunosuppression, and year-1 class II donor-specific antibodies (DSAs. Within this model, class II DSAs were associated with BOS and RAS, whereas pre-LT diagnoses of interstitial lung disease and chronic obstructive pulmonary disease were associated with RAS.ConclusionAlthough these findings need further validation, results indicate that specific baseline and year-1 parameters may serve as predictors of BOS or RAS by 3 years post-LT. Their identification may allow intervention or guide risk stratification, aiming for an individualized patient management approach.

  6. Clinical and morphological variants of hepatitis onset with congenital cytomegalovirus and hepatitis C infection

    Directory of Open Access Journals (Sweden)

    R. A. Ushakova

    2013-01-01

    Full Text Available We present comparative analysis of clinical – morphological data from infants with congenital cytomegalovirus and hepatitis C infection. 97 patients with hepatitis underwent a standard set of clinical and laboratory tests. ELISA and PCR were used to verify infectious agents. Informed consent to perform a liver biopsy was obtained from the parents of 28 children. immunohistochemical test of the liver samples managed to identify markers of cytomegalovirus (protein pp65 and p52 and hepatitis C (helicase NS3. The hepatitis C virus was detected in 41 patients: 3a genotype – 68.3%, 1b –31.7% respectively. Congenital hepatitis C onset presents itself as mild and atypical and causes chronic hepatitis with the 1st degree fibrosis. Cytomegalovirus replication markers were found in 56 children. The most common manifestations of hepatitis associated with cytomegalovirus infection are prolonged jaundice, cholestasis, gepatolienalny syndrome, early onset of the disease with increased transaminase levels and dominance in AST. Structural changes of the liver are characterized by the presence of inflammatory infiltration, cholestasis with duktulopenia, lobular structure damage. Congenital cytomegalovirus-related hepatitis is likely to result in liver cirrhosis and is associated with poor prognosis.

  7. Association Between Onset-to-Door Time and Clinical Outcomes After Ischemic Stroke.

    Science.gov (United States)

    Matsuo, Ryu; Yamaguchi, Yuko; Matsushita, Tomonaga; Hata, Jun; Kiyuna, Fumi; Fukuda, Kenji; Wakisaka, Yoshinobu; Kuroda, Junya; Ago, Tetsuro; Kitazono, Takanari; Kamouchi, Masahiro

    2017-11-01

    The role of early hospital arrival in improving poststroke clinical outcomes in patients without reperfusion treatment remains unclear. This study aimed to determine whether early hospital arrival was associated with favorable outcomes in patients without reperfusion treatment or with minor stroke. This multicenter, hospital-based study included 6780 consecutive patients (aged, 69.9±12.2 years; 63.9% men) with ischemic stroke who were prospectively registered in Fukuoka, Japan, between July 2007 and December 2014. Onset-to-door time was categorized as T 0-1 , ≤1 hour; T 1-2 , >1 and ≤2 hours; T 2-3 , >2 and ≤3 hours; T 3-6 , >3 and ≤6 hours; T 6-12 , >6 and ≤12 hours; T 12-24 , >12 and ≤24 hours; and T 24- , >24 hours. The main outcomes were neurological improvement (decrease in National Institutes of Health Stroke Scale score of ≥4 during hospitalization or 0 at discharge) and good functional outcome (3-month modified Rankin Scale score of 0-1). Associations between onset-to-door time and main outcomes were evaluated after adjusting for potential confounders using logistic regression analysis. Odds ratios (95% confidence intervals) increased significantly with shorter onset-to-door times within 6 hours, for both neurological improvement ( T 0- 1 , 2.79 [2.28-3.42]; T 1-2 , 2.49 [2.02-3.07]; T 2-3 , 1.52 [1.21-1.92]; T 3-6 , 1.72 [1.44-2.05], with reference to T 24- ) and good functional outcome ( T 0-1 , 2.68 [2.05-3.49], T 1-2 2.10 [1.60-2.77], T 2-3 1.53 [1.15-2.03], T 3-6 1.31 [1.05-1.64], with reference to T 24- ), even after adjusting for potential confounding factors including reperfusion treatment and basal National Institutes of Health Stroke Scale. These associations were maintained in 6216 patients without reperfusion treatment and in 4793 patients with minor stroke (National Institutes of Health Stroke Scale ≤4 on hospital arrival). Early hospital arrival within 6 hours after stroke onset is associated with favorable outcomes after

  8. Frequency and pattern of childhood symptom onset reported by first episode schizophrenia and clinical high risk youth.

    Science.gov (United States)

    Woodberry, Kristen A; Serur, Rachael A; Hallinan, Sean B; Mesholam-Gately, Raquelle I; Giuliano, Anthony J; Wojcik, Joanne D; Keshavan, Matcheri S; Frazier, Jean A; Goldstein, Jill M; Shenton, Martha E; McCarley, Robert W; Seidman, Larry J

    2014-09-01

    Psychosis prevention and early intervention efforts in schizophrenia have focused increasingly on sub-threshold psychotic symptoms in adolescents and young adults. Although many youth report symptom onset prior to adolescence, the childhood incidence of prodromal-level symptoms in those with schizophrenia or related psychoses is largely unknown. This study reports on the retrospective recall of prodromal-level symptoms from 40 participants in a first-episode of schizophrenia (FES) and 40 participants at "clinical high risk" (CHR) for psychosis. Onset of positive and non-specific symptoms was captured using the Structured Interview for Prodromal Syndromes. Frequencies are reported according to onset during childhood (prior to age 13), adolescence (13-17), or adulthood (18+). Childhood-onset of attenuated psychotic symptoms was not rare. At least 11% of FES and 23% of CHR reported specific recall of childhood-onset of unusual or delusional ideas, suspiciousness, or perceptual abnormalities. Most recalled experiencing non-specific symptoms prior to positive symptoms. CHR and FES did not differ significantly in the timing of positive and non-specific symptom onset. Other than being younger at assessment, those with childhood onset did not differ demographically from those with later onset. Childhood-onset of initial psychotic-like symptoms may be more common than previous research has suggested. Improved characterization of these symptoms and a focus on their predictive value for subsequent schizophrenia and other major psychoses are needed to facilitate screening of children presenting with attenuated psychotic symptoms. Accurate detection of prodromal symptoms in children might facilitate even earlier intervention and the potential to alter pre-illness trajectories. Copyright © 2014 Elsevier B.V. All rights reserved.

  9. Two Novel De Novo GARS Mutations Cause Early-Onset Axonal Charcot-Marie-Tooth Disease.

    Directory of Open Access Journals (Sweden)

    Yi-Chu Liao

    Full Text Available Mutations in the GARS gene have been identified in a small number of patients with Charcot-Marie-Tooth disease (CMT type 2D or distal spinal muscular atrophy type V, for whom disease onset typically occurs during adolescence or young adulthood, initially manifesting as weakness and atrophy of the hand muscles. The role of GARS mutations in patients with inherited neuropathies in Taiwan remains elusive.Mutational analyses of the coding regions of GARS were performed using targeted sequencing of 54 patients with molecularly unassigned axonal CMT, who were selected from 340 unrelated CMT patients. Two heterozygous mutations in GARS, p.Asp146Tyr and p.Met238Arg, were identified; one in each patient. Both are novel de novo mutations. The p.Asp146Tyr mutation is associated with a severe infantile-onset neuropathy and the p.Met238Arg mutation results in childhood-onset disability.GARS mutations are an uncommon cause of CMT in Taiwan. The p.Asp146Tyr and p.Met238Arg mutations are associated with early-onset axonal CMT. These findings broaden the mutational spectrum of GARS and also highlight the importance of considering GARS mutations as a disease cause in patients with early-onset neuropathies.

  10. Blood Culture Proven Early Onset Sepsis and Late Onset Sepsis in Very-Low-Birth-Weight Infants in Korea.

    Science.gov (United States)

    Lee, Soon Min; Chang, Meayoung; Kim, Ki-Soo

    2015-10-01

    Neonatal sepsis remains one of the most important causes of death and co-morbidity in very-low-birth-weight (VLBW) infants. The aim of this study was to determine the current incidences of early-onset sepsis (EOS) and late-onset sepsis (LOS), the distribution of pathogens, and the impact of infection on co-morbidities in VLBW infants. We analyzed the data including sepsis episode from 2,386 VLBW infants enrolled in Korean Neonatal Network from January 2013 to June 2014. We defined EOS as a positive blood culture occurring between birth and 7 days of life and LOS after 7 days of life. Sepsis was found in 21.1% of VLBW infants. The risk of sepsis was inversely related to birth weight and gestational age. EOS was found in only 3.6% of VLBW infants, however the mortality rate was as high as 34.1%. EOS was associated with the increased odds for bronchopulmonary dysplasia and intraventricular hemorrhage. The vast majority of EOS was caused by Gram-positive organisms, particularly coagulase-negative staphylococci (30.6%). LOS developed in 19.4% of VLBW infants with a 16.1% mortality rate. Pathogens in LOS were dominated by coagulase-negative staphylococci (38.3%). Twenty-five percent and fifty percent of first LOS episode occurred after 12 days and 20 days from birth, respectively. Younger and smaller VLBW infants showed the earlier occurrence day for the 25% of first LOS episode. This study provides a recent nationwide epidemiology of sepsis in VLBW infants in Korea. Based on this study, successful strategies to reduce infections would improve survival and reduce morbidity.

  11. The early clinical features of dengue in adults: challenges for early clinical diagnosis.

    Directory of Open Access Journals (Sweden)

    Jenny G H Low

    Full Text Available BACKGROUND: The emergence of dengue throughout the tropical world is affecting an increasing proportion of adult cases. The clinical features of dengue in different age groups have not been well examined, especially in the context of early clinical diagnosis. METHODOLOGY/PRINCIPAL FINDINGS: We structured a prospective study of adults (≥ 18 years of age presenting with acute febrile illness within 72 hours from illness onset upon informed consent. Patients were followed up over a 3-4 week period to determine the clinical outcome. A total of 2,129 adults were enrolled in the study, of which 250 (11.7% had dengue. Differences in the rates of dengue-associated symptoms resulted in high sensitivities when the WHO 1997 or 2009 classification schemes for probable dengue fever were applied to the cohort. However, when the cases were stratified into age groups, fewer older adults reported symptoms such as myalgia, arthralgia, retro-orbital pain and mucosal bleeding, resulting in reduced sensitivity of the WHO classification schemes. On the other hand, the risks of severe dengue and hospitalization were not diminished in older adults, indicating that this group of patients can benefit from early diagnosis, especially when an antiviral drug becomes available. Our data also suggests that older adults who present with fever and leukopenia should be tested for dengue, even in the absence of other symptoms. CONCLUSION: Early clinical diagnosis based on previously defined symptoms that are associated with dengue, even when used in the schematics of both the WHO 1997 and 2009 classifications, is difficult in older adults.

  12. Cord Blood Acute Phase Reactants Predict Early Onset Neonatal Sepsis in Preterm Infants.

    Science.gov (United States)

    Mithal, Leena B; Palac, Hannah L; Yogev, Ram; Ernst, Linda M; Mestan, Karen K

    2017-01-01

    Early onset sepsis (EOS) is a major cause of morbidity and mortality in preterm infants, yet diagnosis remains inadequate resulting in missed cases or prolonged empiric antibiotics with adverse consequences. Evaluation of acute phase reactant (APR) biomarkers in umbilical cord blood at birth may improve EOS detection in preterm infants with intrauterine infection. In this nested case-control study, infants (29.7 weeks gestation, IQR: 27.7-32.2) were identified from a longitudinal cohort with archived cord blood and placental histopathology. Patients were categorized using culture, laboratory, clinical, and antibiotic treatment data into sepsis groups: confirmed sepsis (cEOS, n = 12); presumed sepsis (PS, n = 30); and no sepsis (controls, n = 30). Nine APRs were measured in duplicate from cord blood using commercially available multiplex immunoassays (Bio-Plex Pro™). In addition, placental histopathologic data were linked to biomarker results. cEOS organisms were Escherichia coli, Streptococcus agalactiae, Proteus mirabilis, Haemophilus influenzae and Listeria monocytogenes. C-reactive protein (CRP), serum amyloid A (SAA), haptoglobin (Hp), serum amyloid P and ferritin were significantly elevated in cEOS compared to controls (pacute inflammation was associated with APR elevation and was present in all cEOS, 9 PS, and 17 control infants. This study shows that certain APRs are elevated in cord blood of premature infants with EOS of intrauterine origin. SAA, CRP, and Hp at birth have potential diagnostic utility for risk stratification and identification of infants with EOS.

  13. Asperger syndrome and early-onset schizophrenia associated with a novel MECP2 deleterious missense variant.

    Science.gov (United States)

    Curie, Aurore; Lesca, Gaëtan; Bussy, Gérald; Manificat, Sabine; Arnaud, Valérie; Gonzalez, Sibylle; Revol, Olivier; Calender, Alain; Gérard, Daniel; des Portes, Vincent

    2017-06-01

    Methyl-CpG-binding protein 2 (MECP2) deleterious variants, which are responsible for Rett syndrome in girls, are involved in a wide spectrum of developmental disabilities in males. A neuropsychiatric phenotype without intellectual disability is uncommon in patients with MECP2 deleterious variants. We report on two dizygotic twins with an MECP2-related psychiatric disorder without intellectual disability. Neuropsychological and psychiatric phenotype assessments were performed, and a genetic analysis was carried out. Both patients fulfilled the Pervasive Developmental Disorder criteria on Autism Diagnostic Observation Schedule and Asperger syndrome criteria on Diagnostic and Statistical Manual of Mental Disorders, 4th ed. (DSM-IV). One patient developed early-onset schizophrenia (DSM-IV criteria) with two acute psychotic episodes, the latest one following corticosteroids and sodium valproate intake, with major hyperammonemia. A novel MECP2 gene transversion c.491 G>T [p.(Ser164Ile)] was found in both twins. Pathogenicity of this variant was considered on the basis of strong clinical and molecular data. The underlying molecular basis of neuropsychiatric disorders may have important consequences on genetic counseling and therapeutic strategies.

  14. Anosognosia and Its Relation to Psychiatric Symptoms in Early-Onset Alzheimer Disease.

    Science.gov (United States)

    Yoon, Bora; Shim, Yong S; Hong, Yun Jeong; Choi, Seong Hye; Park, Hee Kyung; Park, Sun Ah; Jeong, Jee Hyang; Yoon, Soo Jin; Yang, Dong-Won

    2017-05-01

    We investigated differences in the prevalence of anosognosia and neuropsychiatric symptoms (NPSs) characteristics according to disease severity in patients with early-onset Alzheimer disease (EOAD). We recruited 616 patients with EOAD. We subdivided participants into 2 groups based on the presence or absence of anosognosia and then again by Clinical Dementia Rating (CDR) scale. We compared the differences in the Neuropsychiatric Inventory (NPI) scores according to anosognosia and disease severity. The percentage of patients with anosognosia in each CDR group steadily increased as the CDR rating increased (CDR 0.5 8.6% vs CDR 1 13.6% vs CDR 2 26.2%). The NPI total score was significantly higher in patients with anosognosia in the CDR 0.5 and 1 groups; by contrast, it had no association in the CDR 2 group. Frontal lobe functions were associated with anosognosia only in the CDR 0.5 and 1 groups. After stratification by CDR, in the CDR 0.5 group, the prevalence of agitation ( P = .040) and appetite ( P = .013) was significantly higher in patients with anosognosia. In the CDR 1 group, patients with anosognosia had a significantly higher prevalence of delusions ( P = .032), hallucinations ( P = .048), and sleep disturbances ( P = .047). In the CDR 2 group, we found no statistical difference in the frequency of symptoms between patients with and without anosognosia. These results confirm that the prevalence of anosognosia as well as the individual NPS and cognitive functions associated with it differ according to EOAD severity.

  15. Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.

    Science.gov (United States)

    Ait-El-Mkadem, Samira; Dayem-Quere, Manal; Gusic, Mirjana; Chaussenot, Annabelle; Bannwarth, Sylvie; François, Bérengère; Genin, Emmanuelle C; Fragaki, Konstantina; Volker-Touw, Catharina L M; Vasnier, Christelle; Serre, Valérie; van Gassen, Koen L I; Lespinasse, Françoise; Richter, Susan; Eisenhofer, Graeme; Rouzier, Cécile; Mochel, Fanny; De Saint-Martin, Anne; Abi Warde, Marie-Thérèse; de Sain-van der Velde, Monique G M; Jans, Judith J M; Amiel, Jeanne; Avsec, Ziga; Mertes, Christian; Haack, Tobias B; Strom, Tim; Meitinger, Thomas; Bonnen, Penelope E; Taylor, Robert W; Gagneur, Julien; van Hasselt, Peter M; Rötig, Agnès; Delahodde, Agnès; Prokisch, Holger; Fuchs, Sabine A; Paquis-Flucklinger, Véronique

    2017-01-05

    MDH2 encodes mitochondrial malate dehydrogenase (MDH), which is essential for the conversion of malate to oxaloacetate as part of the proper functioning of the Krebs cycle. We report bi-allelic pathogenic mutations in MDH2 in three unrelated subjects presenting with early-onset generalized hypotonia, psychomotor delay, refractory epilepsy, and elevated lactate in the blood and cerebrospinal fluid. Functional studies in fibroblasts from affected subjects showed both an apparently complete loss of MDH2 levels and MDH2 enzymatic activity close to null. Metabolomics analyses demonstrated a significant concomitant accumulation of the MDH substrate, malate, and fumarate, its immediate precursor in the Krebs cycle, in affected subjects' fibroblasts. Lentiviral complementation with wild-type MDH2 cDNA restored MDH2 levels and mitochondrial MDH activity. Additionally, introduction of the three missense mutations from the affected subjects into Saccharomyces cerevisiae provided functional evidence to support their pathogenicity. Disruption of the Krebs cycle is a hallmark of cancer, and MDH2 has been recently identified as a novel pheochromocytoma and paraganglioma susceptibility gene. We show that loss-of-function mutations in MDH2 are also associated with severe neurological clinical presentations in children. Copyright © 2017 The Author(s). Published by Elsevier Inc. All rights reserved.

  16. Reliability and discriminant validity of ataxia rating scales in early onset ataxia.

    Science.gov (United States)

    Brandsma, Rick; Lawerman, Tjitske F; Kuiper, Marieke J; Lunsing, Roelineke J; Burger, Huibert; Sival, Deborah A

    2017-04-01

    To determine whether ataxia rating scales are reliable disease biomarkers for early onset ataxia (EOA). In 40 patients clinically identified with EOA (28 males, 12 females; mean age 15y 3mo [range 5-34y]), we determined interobserver and intraobserver agreement (interclass correlation coefficient [ICC]) and discriminant validity of ataxia rating scales (International Cooperative Ataxia Rating Scale [ICARS], Scale for Assessment and Rating of Ataxia [SARA], and Brief Ataxia Rating Scale [BARS]). Three paediatric neurologists independently scored ICARS, SARA and BARS performances recorded on video, and also phenotyped the primary and secondary movement disorder features. When ataxia was the primary movement disorder feature, we assigned patients to the subgroup 'EOA with core ataxia' (n=26). When ataxia concurred with other prevailing movement disorders (such as dystonia, myoclonus, and chorea), we assigned patients to the subgroup 'EOA with comorbid ataxia' (n=12). ICC values were similar in both EOA subgroups of 'core' and 'comorbid' ataxia (0.92-0.99; ICARS, SARA, and BARS). Independent of the phenotype, the severity of the prevailing movement disorder predicted the ataxia rating scale scores (β=0.83-0.88; pataxia rating scales is high. However, the discriminative validity for 'ataxia' is low. For adequate interpretation of ataxia rating scale scores, application in uniform movement disorder phenotypes is essential. © 2016 Mac Keith Press.

  17. Processing speed and executive functions predict real-world everyday living skills in adolescents with early-onset schizophrenia.

    Science.gov (United States)

    Puig, O; Penadés, R; Baeza, I; Sánchez-Gistau, V; De la Serna, E; Fonrodona, L; Andrés-Perpiñá, S; Bernardo, M; Castro-Fornieles, J

    2012-06-01

    Cognition and clinical variables are known to be among the most predictive factors of real-world social functioning and daily living skills in adult-onset schizophrenia. Fewer studies have focused on their impact in adolescents with early-onset schizophrenia (EOS). The aim of this study is to examine the relationships and the predictive value of cognition and clinical variables on real-world daily living skills in a sample of adolescents with EOS. Cognitive, clinical and real-world everyday living skills measures were administered to 45 clinically and pharmacologically stabilized adolescent outpatients with EOS and 45 healthy control subjects matched by age and sex. Multi-variant analyses to compare cognitive and real-world functioning profiles between patients and controls and regression analysis to identify predictors of real-world functioning scores in patients were used. Adolescents with EOS showed a generalized cognitive and real-world daily living skills dysfunction. Several cognitive and clinical variables significantly correlated with real-world daily living skills functioning but only the processing speed and executive functions emerged as independent predictors of everyday living skills scores, explaining 25.1% of the variance. Slowness in processing information and executive dysfunction showed a significant impact on real-world daily living skills in EOS, independently from clinical symptoms and other cognitive variables. Nevertheless, much of the variance in the daily living skills measure remained unaccounted for, suggesting that other factors were involved as well in this young population.

  18. Early onset of hypokalaemic periodic paralysis caused by a novel mutation of the CACNA1S gene.

    OpenAIRE

    Chabrier, S.; Monnier, Nicole; Lunardi, Joël

    2008-01-01

    International audience; We report a precocious and atypical form of hypokalaemic periodic paralysis, with clinical manifestations at birth and first episodes of paralysis occurring as early as 1 year of age, although onset of this disease usually occurs between 5-35 years. Extensive molecular analysis showed that the disease was caused by a novel de novo p.Arg897Ser mutation in the CACNA1S gene. The mutation mapped to a new region of the protein, the S4 voltage sensing segment of domain III, ...

  19. Early onset of hypokalaemic periodic paralysis caused by a novel mutation of the CACNA1S gene.

    Science.gov (United States)

    Chabrier, S; Monnier, N; Lunardi, J

    2008-10-01

    We report a precocious and atypical form of hypokalaemic periodic paralysis, with clinical manifestations at birth and first episodes of paralysis occurring as early as 1 year of age, although onset of this disease usually occurs between 5-35 years. Extensive molecular analysis showed that the disease was caused by a novel de novo p.Arg897Ser mutation in the CACNA1S gene. The mutation mapped to a new region of the protein, the S4 voltage sensing segment of domain III, at odds with previously reported mutations that exclusively affected domains II and IV.

  20. A Prospective Study to Compare the Diagnostic Value of Serum Procalcitonin and Crp in Early Onset Sepsis

    Directory of Open Access Journals (Sweden)

    Suresh Kumar Verma

    2017-10-01

    Full Text Available Introduction: Neonatal sepsis is the most common cause of death in newborns in developing countries. Prompt diagnosis is the critical determinant in its outcome. As manifestations are often vague, clinically it is difficult to differentiate sepsis from non-infective conditions. Timely diagnosis is important as delay in initiation of antimicrobials can prove fatal. On the other hand empirical use of antibiotics not only increases the risk of antibiotic resistance but also delays the diagnosis of true condition. Procalcitonin (PCT has been well evaluated in late onset sepsis but data pertaining to Early Onset Sepsis (EOS are still lacking. We compared the diagnostic value of PCT and CRP (C-Reactive Protein in EOS. Aim: To compare the diagnostic value of serum PCT and CRP in early onset sepsis. Materials and Methods: It was a prospective observational study conducted in Neonatal Intensive Care Unit of the Department of Paediatrics, Dr.S.N. Medical College, Jodhpur, India. All neonates delivered in hospitals attached to this medical college or referred here within 7 days of life and having ≥2 perinatal risk factors for sepsis or displaying clinical sepsis were included in the study. All enrolled neonates were subjected to sepsis screen, PCT levels and blood culture at birth or admission which ever was the earliest. PCT levels ≥ 0.5 ng/ml and CRP levels above 8mg/l were considered positive for EOS. Results: Sensitivity and negative predictive value of PCT were higher than CRP (90.12% vs. 50.62% and 93.33% vs. 79.06% respectively. Also it had a higher positive predictive value of 40.56% than CRP where it was 37.61%. CRP was more specific (68.95% vs. 51.4% with overall higher diagnostic accuracy (0.64 vs. 0.61 in comparison to PCT. Conclusion: PCT is more sensitive and has a higher negative predictive value than CRP in early onset sepsis. Higher positive predictive value and specificity of CRP suggest that, PCT should not be used alone rather

  1. Early- and late-onset preeclampsia and the tissue-specific epigenome of the placenta and newborn

    NARCIS (Netherlands)

    E. Herzog (E.); A.J. Eggink (Alex); S.P. Willemsen (Sten); R. Slieker (Roderick); K.P.J. Wijnands (Kim); J.F. Felix (Janine); Chen, J. (Jun); A. Stubbs (Andrew); P.J. van der Spek (Peter); van Meurs, J.B. (Joyce B.); R.P.M. Steegers-Theunissen (Régine)

    2017-01-01

    textabstractIntroduction Preeclampsia (PE) carries increased risks of cardiovascular- and metabolic diseases in mothers and offspring during the life course. While the severe early-onset PE (EOPE) phenotype originates from impaired placentation in early pregnancy, late-onset PE (LOPE) is in

  2. Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer

    Science.gov (United States)

    Pearlman, Rachel; Frankel, Wendy L.; Swanson, Benjamin; Zhao, Weiqiang; Yilmaz, Ahmet; Miller, Kristin; Bacher, Jason; Bigley, Christopher; Nelsen, Lori; Goodfellow, Paul J.; Goldberg, Richard M.; Paskett, Electra; Shields, Peter G.; Freudenheim, Jo L.; Stanich, Peter P; Lattimer, Ilene; Arnold, Mark; Liyanarachchi, Sandya; Kalady, Matthew; Heald, Brandie; Greenwood, Carla; Paquette, Ian; Prues, Marla; Draper, David J.; Lindeman, Carolyn; Kuebler, J. Philip; Reynolds, Kelly; Brell, Joanna M.; Shaper, Amy A.; Mahesh, Sameer; Buie, Nicole; Weeman, Kisa; Shine, Kristin; Haut, Mitchell; Edwards, Joan; Bastola, Shyamal; Wickham, Karen; Khanduja, Karamjit S.; Zacks, Rosemary; Pritchard, Colin C.; Shirts, Brian H.; Jacobson, Angela; Allen, Brian; de la Chapelle, Albert; Hampel, Heather

    2017-01-01

    IMPORTANCE Hereditary cancer syndromes infer high cancer risks and require intensive cancer surveillance, yet the prevalence and spectrum of these conditions among unselected patients with early-onset colorectal cancer (CRC) is largely undetermined. OBJECTIVE To determine the frequency and spectrum of cancer susceptibility gene mutations among patients with early-onset CRC. DESIGN, SETTING, AND PARTICIPANTS Overall, 450 patients diagnosed with colorectal cancer younger than 50 years were prospectively accrued from 51 hospitals into the Ohio Colorectal Cancer Prevention Initiative from January 1, 2013, to June 20, 2016. Mismatch repair (MMR) deficiency was determined by microsatellite instability and/or immunohistochemistry. Germline DNA was tested for mutations in 25 cancer susceptibility genes using next-generation sequencing. MAIN OUTCOMES AND MEASURES Mutation prevalence and spectrum in patients with early-onset CRC was determined. Clinical characteristics were assessed by mutation status. RESULTS In total 450 patients younger than 50 years were included in the study, and 75 gene mutations were found in 72 patients (16%). Forty-eight patients (10.7%) had MMR-deficient tumors, and 40 patients (83.3%) had at least 1 gene mutation: 37 had Lynch syndrome (13, MLH1 [including one with constitutional MLH1 methylation]; 16, MSH2; 1, MSH2/monoallelic MUTYH; 2, MSH6; 5, PMS2); 1 patient had the APC c.3920T>A, p.I1307K mutation and a PMS2 variant; 9 patients (18.8%) had double somatic MMR mutations (including 2 with germline biallelic MUTYH mutations); and 1 patient had somatic MLH1 methylation. Four hundred two patients (89.3%) had MMR-proficient tumors, and 32 patients (8%) had at least 1 gene mutation: 9 had mutations in high-penetrance CRC genes (5, APC; 1, APC/PMS2; 2, biallelic MUTYH; 1, SMAD4); 13 patients had mutations in high- or moderate-penetrance genes not traditionally associated with CRC (3, ATM; 1, ATM/CHEK2; 2, BRCA1; 4, BRCA2; 1, CDKN2A; 2, PALB2); 10

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

    Science.gov (United States)

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

    2014-07-01

    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. © The Author 2013. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

  4. Perbedaan Rerata Kadar Soluble Fms-Like Tyrosine Kinase-1 (Sflt-1 Serum pada Penderita Early Onset, Late Onset Preeklampsia Berat / Eklampsia dan Kehamilan Normal

    Directory of Open Access Journals (Sweden)

    Laila Rahmi

    2016-01-01

    Full Text Available AbstrakPreeklampsia merupakan sumber utama morbiditas dan mortalitas ibu di seluruh dunia. Kegagalan pengaturan dan ketidakseimbangan agen vasoaktif proangiogenik dan antiangiogenik plasenta, soluble fms-like tyrosine kinase-1 (sFlt-1, vascular endothelial growth factor (VEGF dan placental growth factor (PlGF memainkan peran penting dalam patogenesis preeklampsia. Tujuan penelitian ini adalah menentukan perbedaan rerata kadar sFlt-1 serum pada penderita early onset, late onset preeklampsia berat/ eklampsia dan kehamilan normal. Penelitian dilakukan di RSUP Dr. M. Djamil, RS TK. III dr. Reksodiwiryo dan Laboratorium Biologi Molekuler Fakultas Kedokteran Universitas Andalas Padang dari Februari sampai  Desember 2014 dengan desain cross sectional. Subjek berjumlah 84 orang, terdiri dari tiga kelompok, yaitu kelompok early onset preeklampsia berat/ eklampsia, late onset preeklampsia berat/ eklampsia, dan kehamilan normal sebagai kelompok kontrol yang diambil dengan teknik consecutive sampling. Darah dikumpulkan dari subjek penelitian dengan cara intravena kemudian diukur dengan metode ELISA. Rerata kadar sFlt-1 pada kelompok early onset, late onset preeklampsia berat/ eklampsia dan kehamilan normal secara berturut-turut adalah 4,69±0,96 ng/ml, 2,39±0,57 ng/ml, dan 1,23±0,42 ng/ml. Perbedaan ini sangat signifikan dengan uji statistik ANOVA (p<0,05 dan uji Post Hoc Test Multiple Comparisons. Kesimpulan penelitian adalah terdapat perbedaan yang sangat signifikan antara kadar sFlt-1 serum pada kelompok early onset preeklampsia berat/ eklampsia, late onset preeklampsia berat/ eklampsia dan kehamilan normal.Kata kunci: sFlt-1, antiangiogenik, preeklampsia berat/ eklampsia, kehamilan normal AbstractPreeclampsia is a major cause maternal morbidity and mortality in the world. Failure regulation and imbalance of vasoactive agents and antiangiogenic proangiogenik placenta, soluble fms-like tyrosine kinase-1 (sFlt-1, vascular endothelial growth factor

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

    Science.gov (United States)

    Money, Deborah; Allen, Victoria M

    2013-10-01

    To review the evidence in the literature and to provide recommendations on the management of pregnant women in labour for the prevention of early-onset neonatal group B streptococcal disease. The key revisions in this updated guideline include changed recommendations for regimens for antibiotic prophylaxis, susceptibility testing, and management of women with pre-labour rupture of membranes. Maternal outcomes evaluated included exposure to antibiotics in pregnancy and labour and complications related to antibiotic use. Neonatal outcomes of rates of early-onset group B streptococcal infections are evaluated. Published literature was retrieved through searches of MEDLINE, CINAHL, and The Cochrane Library from January 1980 to July 2012 using appropriate controlled vocabulary and key words (group B streptococcus, antibiotic therapy, infection, prevention). Results were restricted to systematic reviews, randomized control trials/controlled clinical trials, and observational studies. There were no date or language restrictions. Searches were updated on a regular basis and incorporated in the guideline to May 2013. Grey (unpublished) literature was identified through searching the websites of health technology assessment and health technology-related agencies, clinical practice guideline collections, clinical trial registries, and national and international medical specialty societies. The quality of evidence in this document was rated using the criteria described in the Report of the Canadian Task Force on Preventive Health Care (Table 1). The recommendations in this guideline are designed to help clinicians identify and manage pregnancies at risk for neonatal group B streptococcal disease to optimize maternal and perinatal outcomes. No cost-benefit analysis is provided. There is good evidence based on randomized control trial data that in women with pre-labour rupture of membranes at term who are colonized with group B streptococcus, rates of neonatal infection are

  6. Precuneus atrophy in early-onset Alzheimer's disease: a morphometric structural MRI study

    International Nuclear Information System (INIS)

    Karas, Giorgos; Scheltens, Philip; Jones, Bethany; Rombouts, Serge; Schijndel, Ronald van; Klein, Martin; Flier, Wiesje van der; Vrenken, Hugo; Barkhof, Frederik

    2007-01-01

    Alzheimer's disease (AD) usually first presents in elderly patients, but may also develop at an earlier age. Patients with an early age at onset tend to present with complaints other than memory impairment, such as visuospatial problems or apraxia, which may reflect a different distribution of cortical involvement. In this study we set out to investigate whether age at onset in patients with AD determines the pattern of atrophy on cerebral MRI scans. We examined 55 patients with AD over a wide age range and analyzed their 3-D T1-weighted structural MRI scans in standard space using voxel-based morphometry (VBM). Regression analysis was performed to estimate loss of grey matter as a function of age, corrected for mini-mental state examination (MMSE) scores and sex. The VBM analyses identified multiple areas (including the temporal and parietal lobes), showing more atrophy with advancing age. By contrast, a younger age at onset was found to be associated with lower grey matter density in the precuneus. Regionalized volumetric analysis of this region confirmed the existence of disproportionate atrophy in the precuneus in patients with early-onset AD. Application of a multivariate model with precuneus grey matter density as input, showed that precuneal and hippocampal atrophy are independent from each other. Additionally, we found that a smaller precuneus is associated with impaired visuospatial functioning. Our findings support the notion that age at onset modulates the distribution of cortical involvement, and that disproportionate precuneus atrophy is more prominent in patients with a younger age of onset. (orig.)

  7. Precuneus atrophy in early-onset Alzheimer's disease: a morphometric structural MRI study

    Energy Technology Data Exchange (ETDEWEB)

    Karas, Giorgos [Vrije Universiteit Medical Centre, Department of Diagnostic Radiology, Amsterdam (Netherlands); Vrije Universiteit Medical Center, Alzheimer Center, Amsterdam (Netherlands); Scheltens, Philip; Jones, Bethany [Vrije Universiteit Medical Center, Alzheimer Center, Amsterdam (Netherlands); Vrije Universiteit Medical Center, Department of Clinical Neurology, Amsterdam (Netherlands); Rombouts, Serge [Vrije Universiteit Medical Center, Alzheimer Center, Amsterdam (Netherlands); Vrije Universiteit Medical Center, Department of Clinical Physics and Informatics, Amsterdam (Netherlands); Schijndel, Ronald van [Vrije Universiteit Medical Center, Image Analysis Center, Amsterdam (Netherlands); Vrije Universiteit Medical Center, Department of Clinical Physics and Informatics, Amsterdam (Netherlands); Klein, Martin [Vrije Universiteit Medical Center, Department of Medical Psychology, Amsterdam (Netherlands); Flier, Wiesje van der [Vrije Universiteit Medical Center, Alzheimer Center, Amsterdam (Netherlands); Vrenken, Hugo [Vrije Universiteit Medical Center, Image Analysis Center, Amsterdam (Netherlands); Barkhof, Frederik [Vrije Universiteit Medical Centre, Department of Diagnostic Radiology, Amsterdam (Netherlands); Vrije Universiteit Medical Center, Image Analysis Center, Amsterdam (Netherlands); Vrije Universiteit Medical Center, Alzheimer Center, Amsterdam (Netherlands)

    2007-12-15

    Alzheimer's disease (AD) usually first presents in elderly patients, but may also develop at an earlier age. Patients with an early age at onset tend to present with complaints other than memory impairment, such as visuospatial problems or apraxia, which may reflect a different distribution of cortical involvement. In this study we set out to investigate whether age at onset in patients with AD determines the pattern of atrophy on cerebral MRI scans. We examined 55 patients with AD over a wide age range and analyzed their 3-D T1-weighted structural MRI scans in standard space using voxel-based morphometry (VBM). Regression analysis was performed to estimate loss of grey matter as a function of age, corrected for mini-mental state examination (MMSE) scores and sex. The VBM analyses identified multiple areas (including the temporal and parietal lobes), showing more atrophy with advancing age. By contrast, a younger age at onset was found to be associated with lower grey matter density in the precuneus. Regionalized volumetric analysis of this region confirmed the existence of disproportionate atrophy in the precuneus in patients with early-onset AD. Application of a multivariate model with precuneus grey matter density as input, showed that precuneal and hippocampal atrophy are independent from each other. Additionally, we found that a smaller precuneus is associated with impaired visuospatial functioning. Our findings support the notion that age at onset modulates the distribution of cortical involvement, and that disproportionate precuneus atrophy is more prominent in patients with a younger age of onset. (orig.)

  8. Results of the spine-to-rib-cage distraction in the treatment of early onset scoliosis

    Directory of Open Access Journals (Sweden)

    Teli Marco

    2010-01-01

    Full Text Available Background: Growing rod systems have been used in the last 30 years for the treatment of early onset scoliosis (EOS with variable success rates. We report the results of treatment of EOS with a newly developed hybrid rod distraction system applied to the rib cage and spine with a nonfusion technique in a prospective multicenter clinical trial. Materials and Methods: A total of 22 patients affected by progressive EOS resistant to cast and/or brace treatment were enrolled from 2004 to 2005 after informed consent into a trial of surgical treatment with a single spine-to-rib growing rod instrumentation growing spine profiler (GSP. Curves> 60° Cobb in the frontal plane or bending < 50% were addressed with staged anterior annulotomy and fusion and posterior implantation of a GSP rod. Less severe and rigid curves were treated with posterior implantation of GSP only. The elongation of GSP was planned according to spinal growth. Patients were kept in a brace between elongations. Results: A total of 20 patients were available to follow-up with complete data. The mean follow up is 4.1 years. Mean age at time of initial surgery was 5 years (3-8. Nine patients had staged antero-posterior surgeries, 11 posterior only surgeries. Mean spinal growth was 1.9 cm (1.5-2.3 or 0.5 cm per year. Mean coronal Cobb′s angle correction was from 56° to 45°. Major complications affected 40% of patients and included rod failure in 6/20 and crankshaft in 5/20 (all in the anteroposterior surgery group. Conclusion: Treatment of EOS with spine-to-rib growing rod in the present form provides similar correction and complication rates to those published in the series considering traditional single or dual growing rod systems. Based on this, the authors recommend revision of the GSP design and a new clinical trial to test safety and efficacy.

  9. Growing rod erosion through the lamina causing spinal cord compression in an 8-year-old girl with early-onset scoliosis.

    Science.gov (United States)

    Abduljabbar, Fahad H; Waly, Feras; Nooh, Anas; Ouellet, Jean

    2016-09-01

    Early-onset scoliosis often occurs by the age of 5 years and is attributed to many structural abnormalities. Syndromic early-onset scoliosis is considered one of the most aggressive types of early-onset scoliosis. Treatment starts with serial casting and bracing, but eventually most of these patients undergo growth-sparing procedures, such as a single growing rod, dual growing rods, or a vertical expandable titanium prosthetic rib. This case report aimed to describe an unusual complication of erosion of a growing rod through the lamina that caused spinal cord compression in an 8-year-old girl with early-onset scoliosis. This is a case report. A retrospective chart review was used to describe the clinical course and radiographic findings of this case after rod erosion into the spinal canal. The patient underwent successful revision surgery removing the rod without neurologic complications. Patients with syndromic early-onset scoliosis are more prone to progressive curves and severe rotational deformity. We believe that the severe kyphotic deformity in addition to the dysplastic nature of the deformity in this population may predispose them to this unusual complication. Copyright © 2016 Elsevier Inc. All rights reserved.

  10. Research protocol of the NeedYD-study (Needs in Young onset Dementia: a prospective cohort study on the needs and course of early onset dementia

    Directory of Open Access Journals (Sweden)

    Vernooij-Dassen Myrra JFJ

    2010-03-01

    Full Text Available Abstract Background Early onset dementia has serious consequences for patients and their family members. Although there has been growing attention for this patient group, health care services are still mainly targeted at the elderly. Specific knowledge of the needs of early onset dementia patients and their families is limited but necessary for the development of adequate health care services and specific guidelines. This research project is mainly targeted at delineating the course of early onset dementia, the functional characteristics and needs of early onset dementia patients and their caregivers, the risk factors for institutionalization and the interaction with the caring environment. Methods/Design The NeedYD-study (Needs in Young Onset Dementia is a longitudinal observational study investigating early onset dementia patients and their caregivers (n = 217. Assessments are performed every six months over two years and consist of interviews and questionnaires with patients and caregivers. The main outcomes are (1 the needs of patients and caregivers, as measured by the Camberwell Assessment of Needs for the Elderly (CANE and (2 neuropsychiatric symptoms, as measured by the NeuroPsychiatric Inventory (NPI. Qualitative analyses will be performed in order to obtain more in-depth information on the experiences of EOD patients and their family members. The results of this study will be compared with comparable data on late onset dementia from a historical cohort. Discussion The study protocol of the NeedYD-study is presented here. To our knowledge, this study is the first prospective cohort study in this research area. Although some limitations exist, these do not outweigh the strong points of this study design.

  11. Neonatal Infected Subgaleal Hematoma: An Unusual Complication of Early-onset E. coli Sepsis

    Directory of Open Access Journals (Sweden)

    Hung-Yang Chang

    2015-04-01

    Full Text Available Subgaleal hematoma (SGH is an uncommon but potentially lethal medical emergency in newborns. Delay in diagnosis may lead to mortality and morbidity. Infection of an SGH is extremely rare. We report an infected SGH with abscess formation as a complication of early-onset Escherichia coli sepsis in a term neonate. The patient was discovered to have SGH soon after birth. Early-onset E. coli sepsis developed on Day 3 of life. The SGH became infected, with abscess formation 1 week later. The infected SGH was probably due to direct hematogenous spreading of sepsis. The patient was successfully treated without complications. Clinicians should be aware that SGH is a potential site of infection and infection may be caused either by direct hematogenous extension or from traumatic scalp lesions. Appropriate antibiotic treatment and surgical debridement are necessary when an infected SGH occurs.

  12. Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing.

    Science.gov (United States)

    Kumar, Kishore R; Wali, G M; Kamate, Mahesh; Wali, Gautam; Minoche, André E; Puttick, Clare; Pinese, Mark; Gayevskiy, Velimir; Dinger, Marcel E; Roscioli, Tony; Sue, Carolyn M; Cowley, Mark J

    2016-10-01

    We performed whole genome sequencing (WGS) in nine families from India with early-onset hereditary spastic paraplegia (HSP). We obtained a genetic diagnosis in 4/9 (44 %) families within known HSP genes (DDHD2 and CYP2U1), as well as perixosomal biogenesis disorders (PEX16) and GM1 gangliosidosis (GLB1). In the remaining patients, no candidate structural variants, copy number variants or predicted splice variants affecting an extended candidate gene list were identified. Our findings demonstrate the efficacy of using WGS for diagnosing early-onset HSP, particularly in consanguineous families (4/6 diagnosed), highlighting that two of the diagnoses would not have been made using a targeted approach.

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

    Science.gov (United States)

    Lively, Mathew W

    2012-03-01

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

  14. Is an Early Age at Illness Onset in Schizophrenia Associated With Increased Genetic Susceptibility?

    DEFF Research Database (Denmark)

    Hilker, Rikke; Helenius, Dorte; Fagerlund, Birgitte

    2017-01-01

    with a shared genetic background. Methods We linked nationwide registers to identify a cohort of twin pairs born in Denmark from 1951 to 2000 (N = 31,524 pairs), where one or both twins had a diagnosis in the schizophrenia spectrum. We defined two groups consisting of; N = 788 twin pairs (affected...... for developing schizophrenia in the second twin. Additionally, we found that the stronger genetic component in MZ twins compared to DZ twins is manifested in the proximity of assigned diagnosis within pairs. Discussion Early onset schizophrenia could be linked to a more severe genetic predisposition, indicating......Background Early age at illness onset has been viewed as an important liability marker for schizophrenia, which may be associated with an increased genetic vulnerability. A twin approach can be valuable, because it allows for the investigation of specific illness markers in individuals...

  15. Altered hemodynamics and hyperuricemia accompany an elevated sFlt-1/PlGF ratio before the onset of early severe preeclampsia.

    LENUS (Irish Health Repository)

    Doherty, Anne

    2014-08-01

    Early identification of women at risk of developing early-onset severe preeclampsia (sPE) is a key objective in obstetrics. An elevated ratio of serum soluble fms-like tyrosine kinase (sFlt-1) to placenta-like growth factor (PlGF) (sFlt-1\\/PlGF ratio) precedes overt hypertension. The longitudinal relationship between this biomarker, maternal hemodynamics, and maternal serum uric acid during the pre-clinical phase is unknown.

  16. Homozygous partial genomic triplication of the parkin gene in early-onset parkinsonism.

    Science.gov (United States)

    Mata, Ignacio F; Alvarez, Victoria; Coto, Eliecer; Blazquez, Marta; Guisasola, Luis M; Salvador, Carlos; Kachergus, Jennifer M; Lincoln, Sarah J; Farrer, Matthew

    2005-06-03

    Autosomal recessive mutations in the parkin gene are the predominant cause of familial, early-onset parkinsonism; missense mutations involving one or a few nucleotides, exonic deletions and duplications have been described. Here we report a family with two affected brothers. Direct sequencing of parkin did not detect mutations, but semi-quantitative analysis identified a novel exonic rearrangement of exons 2-4. Both patients were homozygous for unique genomic triplications of the parkin gene.

  17. Variants of early-onset restrictive eating disturbances in middle childhood

    OpenAIRE

    Kurz, Susanne; van Dyck, Zoé; Dremmel, Daniela; Munsch, Simone; Hilbert, Anja

    2016-01-01

    Objective: This study sought to determine the factor structure of the newly developed self-report screening questionnaire Eating Disturbances in Youth-Questionnaire (EDY-Q) as well as to report the distribution of variants of early-onset restrictive eating disturbances characteristic of avoidant/restrictive food intake disorder (ARFID) in a middle childhood population sample. Method: Using the EDY-Q, a total of 1444 children aged 8-13 years were screened in elementary schools in Switzerland v...

  18. Expectant management of early-onset severe preeclampsia. Literature review and treatment protocol

    Directory of Open Access Journals (Sweden)

    César Augusto Rendón

    2013-12-01

    Full Text Available The main goal of expectant management in women with severe preeclampsia (PE remote from term is to improve neonatal outcome, without compromising maternal health. Studies suggest that expectant management in early-onset preeclampsia may be associated with decreased neonatal morbidity, but also conclude that further studies are needed to assess maternal safety. The aim of this review is to assess the current issue evidence regarding the management of severe preeclampsia remote from term.

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

    Science.gov (United States)

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

    2008-01-01

    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…

  20. Clinical presentation of patients with adult onset still's disease in ...

    African Journals Online (AJOL)

    ... This case series set out to describe the clinical characteristics of patients with ASD seen at a rheumatology clinic in Nairobi. Results: After a record search, 8 patients were noted to have ASD. Fever and arthritis were noted to be most predominant presenting features with almost all the patients having hyperferritinemia.

  1. Demographic and clinical profile of patients with juvenile onset open ...

    African Journals Online (AJOL)

    Background: This was a non-comparative, retrospective review of patients diagnosed with juvenile open angle glaucoma (JOAG) in the eye clinic of a tertiary hospital in southwestern Nigeria. Objective: To document the demographic characteristics, clinical features and treatment outcome of the patients diagnosed with ...

  2. Early Onset Bipolar Disorder: Clinical and Research Considerations

    Science.gov (United States)

    Carlson, Gabrielle A.

    2005-01-01

    This article examined some of the reasons for confusion and controversy surrounding the frequency of diagnosis of bipolar disorder, especially in prepubertal children. Four case vignettes are used to articulate questions surrounding manifestations of euphoria and grandiosity, informant variance, diagnostic implications of medication-induced…

  3. Neurological soft signs in juvenile patients with Asperger syndrome, early-onset psychosis, and healthy controls.

    Science.gov (United States)

    Mayoral, María; Merchán-Naranjo, Jessica; Rapado, Marta; Leiva, Marta; Moreno, Carmen; Giráldez, Marisa; Arango, Celso; Parellada, Mara

    2010-11-01

    The study of neurological soft signs (NSS) in patients with Asperger syndrome may help us to elucidate the neurological basis of this disorder and to clarify its relationship with other neurodevelopmental disorders. The goal of this study was to compare the prevalence of NSS in a sample of patients with Asperger syndrome, early-onset psychosis and healthy controls. NSS were assessed by means of the Neurological Evaluation Scale in a sample of 29 patients with Asperger syndrome (mean age = 12.86 ± 2.58 years), 30 patients with first-episode early-onset psychoses (mean age 14.17 ± 1.02 years) and 30 healthy controls (mean age 12.33 ± 2.69 years). Significant group differences were found between Asperger syndrome patients and healthy controls both in all the Neurological Evaluation Scale subscales and in the Neurological Evaluation Scale total score. There were no significant differences between both groups of patients in any of the Neurological Evaluation Scale scores. NSS are more prevalent in Asperger syndrome than in healthy controls. The NSS profile was not disorder-specific in our samples of patients with Asperger syndrome and early-onset psychoses. © 2010 Blackwell Publishing Asia Pty Ltd.

  4. Variants of early-onset restrictive eating disturbances in middle childhood.

    Science.gov (United States)

    Kurz, Susanne; van Dyck, Zoé; Dremmel, Daniela; Munsch, Simone; Hilbert, Anja

    2016-01-01

    This study sought to determine the factor structure of the newly developed self-report screening questionnaire Eating Disturbances in Youth-Questionnaire (EDY-Q) as well as to report the distribution of variants of early-onset restrictive eating disturbances characteristic of avoidant/restrictive food intake disorder (ARFID) in a middle childhood population sample. Using the EDY-Q, a total of 1,444 children aged 8-13 years were screened in elementary schools in Switzerland via self-report. The factor analysis of the 12 items covering ARFID related symptoms was performed using a principal component analysis (PCA). The PCA showed a four factor solution, with clear allocation to the scales covering three variants of early-onset restrictive eating disturbances and weight problems. Inadequate overall food intake was reported by 19.3% of the children, a limited accepted amount of food by 26.1%, and food avoidance based on a specific underlying fear by 5.0%. The postulated factor structure of the EDY-Q was confirmed, further supporting the existence of distinct variants of early-onset restrictive eating disturbances. Avoidant/restrictive eating behavior seems to be a common experience in middle childhood, but results have to be confirmed using validated interviews. © 2015 Wiley Periodicals, Inc.

  5. Decision-making biases, antisocial personality, and early-onset alcoholism.

    Science.gov (United States)

    Mazas, C A; Finn, P R; Steinmetz, J E

    2000-07-01

    Disinhibited, antisocial traits increase the risk for early-onset alcoholism. Research also suggests that decision biases which favor immediate large rewards regardless of long-term consequences may be important mechanisms associated with the biological substrates of antisocial traits. This study tested the hypothesis that early-onset alcoholism with antisocial personality (ASP) would be associated with favoring immediate larger rewards despite their being associated with long-term losses. Twenty-seven early-onset alcoholics with and without a diagnosis of ASP, eight subjects with ASP but no alcohol dependence, and 32 controls were tested on a task that manipulated the magnitude of immediate rewards and the magnitude of long-term punishments. The sample was recruited from the community via advertisements. Compared with subjects without ASP, subjects with ASP favored larger immediate rewards despite long-term losses regardless of alcohol dependence; however, they learned to shift their decisions in a more advantageous direction over time. A disadvantageous decision bias also was associated with drinking greater quantities of alcohol and having a lower IQ. This study suggests that ASP in a young adult noninstitutionalized sample was associated with a pattern of disadvantageous decision making similar to that observed in patients with antisocial behavioral characteristics associated with lesions in the ventromedial frontal cortex. The data also suggest that this pattern of disadvantageous decision making is associated with consuming larger quantities of alcohol but not consuming alcohol more frequently.

  6. The impact of cannabis use on clinical outcomes in recent onset psychosis.

    Science.gov (United States)

    Barrowclough, Christine; Gregg, Lynsey; Lobban, Fiona; Bucci, Sandra; Emsley, Richard

    2015-03-01

    There are inconsistencies in findings as to whether cannabis use has a negative impact on clinical outcomes for people with established psychosis. Effects may be more evident on patients with recent onset psychosis. To investigate the relationship between cannabis use and clinical outcome, including whether change in cannabis use affects psychotic symptoms, affective symptoms, functioning and psychotic relapse in a sample of people in early psychosis with comorbid cannabis abuse or dependence. One hundred and ten participants were examined prospectively with repeated measures of substance use antecedent to psychopathology at baseline, 4.5, 9, and 18 months. We used random intercept models to estimate the effects of cannabis dose on subsequent clinical outcomes and whether change in cannabis use was associated with change in outcomes. There was no evidence of a specific association between cannabis use and positive symptoms, or negative symptoms, relapse or hospital admissions. However, a greater dose of cannabis was associated with subsequent higher depression and anxiety. Change in the amount of cannabis used was associated with statistically significant corresponding change in anxiety scores, but not depression. Additionally, reductions in cannabis exposure were related to improved patient functioning. Reducing cannabis may be directly associated with improvements in anxiety and functioning, but not other specific symptoms. © The Author 2014. Published by Oxford University Press on behalf of the Maryland Psychiatric Research Center. All rights reserved. For permissions, please email: journals.permissions@oup.com.

  7. Towards a clinically informed, data-driven definition of elderly onset epilepsy.

    Science.gov (United States)

    Josephson, Colin B; Engbers, Jordan D T; Sajobi, Tolulope T; Jette, Nathalie; Agha-Khani, Yahya; Federico, Paolo; Murphy, William; Pillay, Neelan; Wiebe, Samuel

    2016-02-01

    Elderly onset epilepsy represents a distinct subpopulation that has received considerable attention due to the unique features of the disease in this age group. Research into this particular patient group has been limited by a lack of a standardized definition and understanding of the attributes associated with elderly onset epilepsy. We used a prospective cohort database to examine differences in patients stratified according to age of onset. Linear support vector machine learning incorporating all significant variables was used to predict age of onset according to prespecified thresholds. Sensitivity and specificity were calculated and plotted in receiver-operating characteristic (ROC) space. Feature coefficients achieving an absolute value of 0.25 or greater were graphed by age of onset to define how they vary with time. We identified 2,449 patients, of whom 149 (6%) had an age of seizure onset of 65 or older. Fourteen clinical variables had an absolute predictive value of at least 0.25 at some point over the age of epilepsy-onset spectrum. Area under the curve in ROC space was maximized between ages of onset of 65 and 70. Features identified through machine learning were frequently threshold specific and were similar, but not identical, to those revealed through simple univariable and multivariable comparisons. This study provides an empirical, clinically informed definition of "elderly onset epilepsy." If validated, an age threshold of 65-70 years can be used for future studies of elderly onset epilepsy and permits targeted interventions according to the patient's age of onset. Wiley Periodicals, Inc. © 2015 International League Against Epilepsy.

  8. Adult-Onset Autoimmune Diabetes in Europe Is Prevalent With a Broad Clinical Phenotype

    DEFF Research Database (Denmark)

    Hawa, Mohammed I; Kolb, Hubert; Schloot, Nanette

    2013-01-01

    type 1 autoimmune diabetes (odds ratio 3.3).CONCLUSIONSAdult-onset autoimmune diabetes emerges as a prevalent form of autoimmune diabetes. Our results indicate that adult-onset autoimmune diabetes in Europe encompasses type 1 diabetes and LADA in the same broad clinical and autoantibody......OBJECTIVESSpecific autoantibodies characterize type 1 diabetes in childhood but are also found in adult-onset diabetes, even when initially non-insulin requiring, e.g., with latent autoimmune diabetes (LADA). We aimed to characterize adult-onset autoimmune diabetes.RESEARCH DESIGN AND METHODSWe...... consecutively studied 6,156 European diabetic patients attending clinics within 5 years of diagnosis (age range, 30-70 years) examined cross-sectionally clinically and for GAD antibodies (GADA) and antibodies to insulinoma-associated antigen-2 (IA-2A) and zinc-transporter 8 (ZnT8A).RESULTSOf 6,156 patients, 541...

  9. Neuropeptide Y gene polymorphisms confer risk of early-onset atherosclerosis.

    Directory of Open Access Journals (Sweden)

    Svati H Shah

    2009-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Taha Ghada RA

    2011-07-01

    Full Text Available Abstract 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.

  11. Age of pathological gambling onset: clinical and treatment-related features.

    Science.gov (United States)

    Shin, Young-Chul; Choi, Sam-Wook; Ha, Juwon; Mok, Jung Yeon; Lim, Se-Won; Choi, Jung-Seok; Kim, Dai-Jin

    2014-01-01

    This study examined differences in the clinical and treatment-related features of pathological gambling (PG) on the basis of the age of PG onset among pathological gamblers who sought treatment. A total of 702 male outpatients with a primary diagnosis of PG and who were treated in a clinical practice were assessed by retrospective chart review. We selected the age of 25 years and younger as the threshold for "group 1." We then stratified the participants into 4 groups on the basis of the age of PG onset in 10-year intervals. Analysis of covariance with a covariant of age and the Pearson χ test were used for analyses. We found that the earlier-onset gamblers were less likely to be escape type (P gambling (P gambling (P medication, such as naltrexone, significantly more often (P < 0.05), and sought treatment significantly more slowly after the onset of PG than the later-onset group (P < 0.01). Regarding adherence to treatment, however, there was no significant difference among the 4 groups on the basis of the age of PG onset. The age of PG onset is associated with several important clinical and treatment features. More studies are needed to advance prevention and treatment strategies for each age group.

  12. How Should Clinicians Counsel a Woman with a Strong Family History of Early-Onset Alzheimer's Disease about Her Pregnancy?

    Science.gov (United States)

    Mapes, Marianna V; O'Brien, Barbara M; King, Louise P

    2017-07-01

    Counseling patients regarding the benefits, harms, and dilemmas of genetic testing is one of the greatest ethical challenges facing reproductive medicine today. With or without test results, clinicians grapple with how to communicate potential genetic risks as patients weigh their reproductive options. Here, we consider a case of a woman with a strong family history of early-onset Alzheimer's disease (EOAD). She is early in her pregnancy and unsure about learning her own genetic status. We address the ethical ramifications of each of her options, which include genetic testing, genetic counseling, and termination versus continuation of the pregnancy. Our analysis foregrounds clinicians' role in helping to ensure autonomous decision making as the patient reflects on these clinical options in light of her goals and values. © 2017 American Medical Association. All Rights Reserved.

  13. Cord Blood Acute Phase Reactants Predict Early Onset Neonatal Sepsis in Preterm Infants.

    Directory of Open Access Journals (Sweden)

    Leena B Mithal

    Full Text Available Early onset sepsis (EOS is a major cause of morbidity and mortality in preterm infants, yet diagnosis remains inadequate resulting in missed cases or prolonged empiric antibiotics with adverse consequences. Evaluation of acute phase reactant (APR biomarkers in umbilical cord blood at birth may improve EOS detection in preterm infants with intrauterine infection.In this nested case-control study, infants (29.7 weeks gestation, IQR: 27.7-32.2 were identified from a longitudinal cohort with archived cord blood and placental histopathology. Patients were categorized using culture, laboratory, clinical, and antibiotic treatment data into sepsis groups: confirmed sepsis (cEOS, n = 12; presumed sepsis (PS, n = 30; and no sepsis (controls, n = 30. Nine APRs were measured in duplicate from cord blood using commercially available multiplex immunoassays (Bio-Plex Pro™. In addition, placental histopathologic data were linked to biomarker results.cEOS organisms were Escherichia coli, Streptococcus agalactiae, Proteus mirabilis, Haemophilus influenzae and Listeria monocytogenes. C-reactive protein (CRP, serum amyloid A (SAA, haptoglobin (Hp, serum amyloid P and ferritin were significantly elevated in cEOS compared to controls (p<0.01. SAA, CRP, and Hp were elevated in cEOS but not in PS (p<0.01 and had AUCs of 99%, 96%, and 95% respectively in predicting cEOS. Regression analysis revealed robust associations of SAA, CRP, and Hp with EOS after adjustment for covariates. Procalcitonin, fibrinogen, α-2-macroglobulin and tissue plasminogen activator were not significantly different across groups. Placental acute inflammation was associated with APR elevation and was present in all cEOS, 9 PS, and 17 control infants.This study shows that certain APRs are elevated in cord blood of premature infants with EOS of intrauterine origin. SAA, CRP, and Hp at birth have potential diagnostic utility for risk stratification and identification of infants with EOS.

  14. [The relationship between accommodative accuracy at different near-work distances and early-onset myopia].

    Science.gov (United States)

    Yu, Q W; Zhang, P; Zhou, S B; Hu, Y; Ji, M X; Luo, Y C; You, H L; Yao, Z X

    2016-07-01

    To observe the accommodative accuracy of children with early-onset myopia at different near-work distances, and discuss the relationship between accommodative accuracy and early-onset myopia. This was a case-control study. Thirty-seven emmetropic children, 41 early-onset myopic children without correction, and 39 early-onset myopic children with spectacles, aged 7 to 13 years, were included. Measures of refractive errors and accommodative accuracy at four near-work distances, including 50 cm, 40 cm, 30 cm, and 20 cm, were made using the binocular fusion cross cylinder (FCC) of an automatic phoropter. Most candidates showed accommodative lags, including the children with emmetropia. The ratio of lags in all candidates at different near-work distances was 75.21% (50 cm), 87.18% (40 cm), 92.31% (30 cm), and 98.29% (20 cm), respectively. All accommodative accuracies became worse, and the accommodative lag ratio and values of FCC increased, along with the shortening of the distance. The difference in accommodative accuracy among groups was statistically significant at 30 cm (χ(2)=7.852, P= 0.020) and 20 cm (χ(2)=6.480, P=0.039). The values of FCC among groups were significantly different at 30 cm (F=3.626, P=0.030) and 20 cm (F=3.703, P=0.028), but not at 50 cm and 40 cm (P>0.05). In addition, the FCC values of 30 cm and 20 cm had a statistically significant difference between myopic children without correction [(1.25±0.44) D and (1.76±0.43) D] and emmetropic children [(0.95±0.52) D and (1.41±0.58) D] (P=0.012, 0.008). The correlation between diopters of myopia and accommodative accuracy at different nearwork distances was not statistically significant (P>0.05). However, the correlation between diopters of myopia and the accommodative lag value (FCC) at 20 cm was statistically significant (r=0.246, P=0.028). The closer the near-work distance is, the worse the accommodative accuracy is. This is more significant in early-onset myopia, especially myopia without

  15. Early onset epileptic encephalopathy with a novel GABRB3 mutation treated effectively with clonazepam: A case report.

    Science.gov (United States)

    Zhang, Yi; Lian, Yajun; Xie, Nanchang

    2017-12-01

    Early onset epileptic encephalopathy (EOEE) is one of the most serious early onset epilepsies. The etiopathology of this condition remains unclear, and recent evidence indicated that gamma-aminobutyric acid (GABA) A receptor, subunit beta 3 (GABRB3) gene mutations might be associated with EOEE. Furthermore, the therapeutic regimen for EOEE has yet to be well elucidated. Herein, we reported the clinical and genetic features of a case with GABRB3-related EOEE. A 6-year-old girl developed epileptic seizures 3 days after birth. She presented with multiple seizure types including myoclonic seizures, spasms, and absence seizures. Serial electroencephalographic examinations showed variable abnormalities, and intellectual evaluation revealed significant development retardation. Conventional antiepileptic drugs were ineffective for the seizure controlling. Genetic screening identified a novel nonsense mutation (C.5G > A, p.W2X) in the GABRB3 gene. Early onset epileptic encephalopathy. We changed the antiepileptic strategy to oral clonazepam (0.5mg twice daily). The patient was followed up once a week and significant declining in the attack frequency was noted 1 week later (2-3 times daily). Subsequently, the dosage was doubled (1mg twice daily), and complete cessation of seizures was achieved 20 days later. Through a 9-month follow up,the girl remained seizure-free. This study identified a novel nonsensemutation (C.5G>A) in the exon 1 of GABRB3 Gene, which may be associated with EOEE. To our knowledge, this is the first report to use clonazepam in the patient with GABRB3-related EOEE with favorable outcome. Our finding suggested that clonazepam might be a choice for patient with GABRB3-related EOEE. The remarkable efficacy of clonazepam in the control of seizures indicated a potential GABRB3- or GABA-related mechanism involved in the development of EOEE. Copyright © 2017 The Authors. Published by Wolters Kluwer Health, Inc. All rights reserved.

  16. Cannabis use related to early psychotic onset: Role of premorbid function.

    Science.gov (United States)

    Frascarelli, Marianna; Quartini, Adele; Tomassini, Lorenzo; Russo, Paola; Zullo, Daiana; Manuali, Giorgiana; De Filippis, Sergio; Bersani, Giuseppe

    2016-10-28

    The present cross-sectional study investigates the relation between Cannabis and the development of a psychotic disorder. The main objective is to explore the relations between Cannabis use and psychosis onset, premorbid adjustment cognitive impairment and familiarity. Forty-three patients with a diagnosis of Psychotic Disorder were recruited and divided in two groups based on Cannabis use before onset: Cannabis-using patients (PCU, N=21) and Cannabis-free patients (PCF, N=22). Cognitive functioning was evaluated by Trail Making Test A and B (TMT), Rey-Osterrieth Complex Figure Test (ROCF), and the Rey Auditory-Verbal Learning Test (RAVLT). Premorbid functioning was assessed retrospectively through the Premorbid Adjustment Scale (PAS). PCU group showed earlier onset of the psychotic disorder compared to PCF (p=0.008). This finding was not influenced by age or positive family history for psychiatric illness. PCU subjects showed a worse premorbid functioning respect to PCF and this difference was found to impact on the early onset in the PCU group. In conclusion the present study suggests the hypothesis of an interactive role of Cannabis and poor premorbid school adjustment in the development of psychotic disorders. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  17. Early Cannabis Use and Estimated Risk of Later Onset of Depression Spells : Epidemiologic Evidence From the Population-based World Health Organization World Mental Health Survey Initiative

    NARCIS (Netherlands)

    de Graaf, R.; Radovanovic, M.; van Laar, M.; Fairman, B.; Degenhardt, L.; Aguilar-Gaxiola, S.; Bruffaerts, R.; De Girolamo, G.; Fayyad, J.; Gureje, O.; Haro, J.M.; Huang, Y.Q.; Kostychenko, S.; Lepine, J.P.; Matschinger, H.; Mora, M.E.M.; Neumark, Y.; Ormel, J.; Posada-Villa, J.; Stein, D.J.; Tachimori, H.; Wells, J.E.; Anthony, J.C.

    2010-01-01

    Early-onset cannabis use is widespread in many countries and might cause later onset of depression. Sound epidemiologic data across countries are missing. The authors estimated the suspected causal association that links early-onset (age <17 years) cannabis use with later-onset (age >= 17 years)

  18. Surgical fusion of early onset severe scoliosis increases survival in Rett syndrome: a cohort study.

    Science.gov (United States)

    Downs, Jenny; Torode, Ian; Wong, Kingsley; Ellaway, Carolyn; Elliott, Elizabeth J; Izatt, Maree T; Askin, Geoffrey N; Mcphee, Bruce I; Cundy, Peter; Leonard, Helen

    2016-06-01

    Scoliosis is a common comorbidity in Rett syndrome and spinal fusion may be recommended if severe. We investigated the impact of spinal fusion on survival and risk of severe lower respiratory tract infection in Rett syndrome. Data were ascertained from hospital medical records, the Australian Rett Syndrome Database, a longitudinal and population-based registry, and from the Australian Institute of Health and Welfare National Death Index database. Cox regression and generalized estimating equation models were used to estimate the effects of spinal surgery on survival and severe respiratory infection respectively in 140 females who developed severe scoliosis (Cobb angle ≥45°) before adulthood. After adjusting for mutation type and age of scoliosis onset, the rate of death was lower in the surgery group (hazard ratio [HR] 0.30, 95% confidence interval [CI] 0.12-0.74; p=0.009) compared to those without surgery. Rate of death was particularly reduced for those with early onset scoliosis (HR 0.17, 95% CI 0.06-0.52; p=0.002). There was some evidence to suggest that spinal fusion was associated with a reduction in risk of severe respiratory infection among those with early onset scoliosis (risk ratio 0.41, 95% CI 0.16-1.03; p=0.06). With appropriate cautions, spinal fusion confers an advantage to life expectancy in Rett syndrome. © 2015 Mac Keith Press.

  19. Identifying anomalously early spring onsets in the CESM large ensemble project

    Science.gov (United States)

    Labe, Zachary; Ault, Toby; Zurita-Milla, Raul

    2017-06-01

    Seasonal transitions from winter to spring impact a wide variety of ecological and physical systems. While the effects of early springs across North America are widely documented, changes in their frequency and likelihood under the combined influences of climate change and natural variability are poorly understood. Extremely early springs, such as March 2012, can lead to severe economical losses and agricultural damage when these are followed by hard freeze events. Here we use the new Community Earth System Model Large Ensemble project and Extended Spring Indices to simulate historical and future spring onsets across the United States and in the particular the Great Lakes region. We found a marked increase in the frequency of March 2012-like springs by midcentury in addition to an overall trend towards earlier spring onsets, which nearly doubles that of observational records. However, changes in the date of last freeze do not occur at the same rate, therefore, causing a potential increase in the threat of plant tissue damage. Although large-scale climate modes, such as the Pacific Decadal Oscillation, have previously dominated decadal to multidecadal spring onset trends, our results indicate a decreased role in natural climate variability and hence a greater forced response by the end of the century for modulating trends. Without a major reduction in greenhouse gas emissions, our study suggests that years like 2012 in the US could become normal by mid-century.

  20. Maintaining Intestinal Health: The Genetics and Immunology of Very Early Onset Inflammatory Bowel DiseaseSummary

    Directory of Open Access Journals (Sweden)

    Judith R. Kelsen

    2015-09-01

    Full Text Available Inflammatory bowel disease (IBD is a multifactoral disease caused by dysregulated immune responses to commensal or pathogenic microbes in the intestine, resulting in chronic intestinal inflammation. An emerging population of patients with IBD younger than 5 years of age represent a unique form of disease, termed very early onset IBD (VEO-IBD, which is phenotypically and genetically distinct from older-onset IBD. VEO-IBD is associated with increased disease severity, aggressive progression, and poor responsiveness to most conventional therapies. Further investigation into the causes and pathogenesis of VEO-IBD will help improve treatment strategies and may lead to a better understanding of the mechanisms that are essential to maintain intestinal health or provoke the development of targeted therapeutic strategies to limit intestinal inflammation and promote tissue repair. Here, we discuss the phenotypic nature of VEO-IBD, the recent identification of novel gene variants associated with disease, and functional immunologic studies interrogating the contribution of specific genetic variants to the development of chronic intestinal inflammation. Keywords: Inflammatory Bowel Disease, Very Early Onset Inflammatory Bowel Disease, Whole Exome Sequencing, Mucosal Immunology

  1. Early infancy-onset stimulation-induced myoclonic seizures in three siblings with inherited glycosylphosphatidylinositol (GPI) anchor deficiency.

    Science.gov (United States)

    Mogami, Yukiko; Suzuki, Yasuhiro; Murakami, Yoshiko; Ikeda, Tae; Kimura, Sadami; Yanagihara, Keiko; Okamoto, Nobuhiko; Kinoshita, Taroh

    2018-02-01

    Inherited glycosylphosphatidylinositol anchor deficiency causes a variety of clinical symptoms, including epilepsy, however, little information is available regarding seizures as a symptom. We report three siblings with inherited glycosylphosphatidylinositol anchor deficiency with PIGL gene mutations. The phenotypes of the subjects were not consistent with CHIME syndrome or Mabry syndrome, as reported in previous studies. All shared some clinical manifestations, including transient apnoea as neonates, dysmorphic facial features, and intellectual disability. Between one week and 3 months of life, all patients developed myoclonic seizures. Myoclonic jerks were easily evoked by sudden unexpected acoustic or tactile stimuli. None showed elevation of serum alkaline phosphatase. Vitamin B 6 was given to one of the three siblings, but failed to suppress seizures. The presence of early infancy-onset stimulation-induced myoclonic seizures combined with dysmorphic facial features should lead physicians to consider the possibility of inherited glycosylphosphatidylinositol anchor deficiency.

  2. Attention-deficit/hyperactivity disorder in adolescence predicts onset of major depressive disorder through early adulthood.

    Science.gov (United States)

    Meinzer, Michael C; Lewinsohn, Peter M; Pettit, Jeremy W; Seeley, John R; Gau, Jeff M; Chronis-Tuscano, Andrea; Waxmonsky, James G

    2013-06-01

    The aim of this study was to examine the prospective relationship between a history of attention-deficit/hyperactivity disorder (ADHD) assessed in mid-adolescence and the onset of major depressive disorder (MDD) through early adulthood in a large school-based sample. A secondary aim was to examine whether this relationship was robust after accounting for comorbid psychopathology and psychosocial impairment. One thousand five hundred seven participants from the Oregon Adolescent Depression Project completed rating scales in adolescence and structured diagnostic interviews up to four times from adolescence to age 30. Adolescents with a lifetime history of ADHD were at significantly higher risk of MDD through early adulthood relative to those with no history of ADHD. ADHD remained a significant predictor of MDD after controlling for gender, lifetime history of other psychiatric disorders in adolescence, social and academic impairment in adolescence, stress and coping in adolescence, and new onset of other psychiatric disorders through early adulthood (hazard ratio, 1.81; 95% confidence interval, 1.04, 3.06). Additional significant, robust predictors of MDD included female gender, a lifetime history of an anxiety disorder, and poor coping skills in mid-adolescence, as well as the onset of anxiety, oppositional defiant disorder, and substance-use disorder after mid-adolescence. A history of ADHD in adolescence was associated with elevated risk of MDD through early adulthood and this relationship remained significant after controlling for psychosocial impairment in adolescence and co-occurring psychiatric disorders. Additional work is needed to identify the mechanisms of risk and to inform depression prevention programs for adolescents with ADHD. © 2013 Wiley Periodicals, Inc.

  3. Predictors of suicide attempt in early-onset, first-episode psychoses: a longitudinal 24-month follow-up study.

    Science.gov (United States)

    Sanchez-Gistau, Vanessa; Baeza, Inmaculada; Arango, Celso; González-Pinto, Ana; de la Serna, Elena; Parellada, Mara; Graell, Motserrat; Paya, Beatriz; Llorente, Cloe; Castro-Fornieles, Josefina

    2013-01-01

    To study the prevalence of suicide attempts and factors associated with risk for suicide during the first episode of psychosis, and to identify early predictors of suicide attempts over a 24-month follow-up period in an early-onset, first-episode psychosis cohort. 110 subjects in their first episode of psychosis aged between 9 and 17 years were assessed by using the DSM-IV diagnostic interview Schedule for Affective Disorders and Schizophrenia for School-Age Children-Present and Lifetime Version and a battery of clinical instruments at baseline and at 12 and 24 months. Patients were enrolled in the study from March 2003 through November 2005. Suicide attempts and level of suicidality at each assessment were evaluated by using the Clinical Global Impression for Severity of Suicidality and the Hamilton Depression Rating Scale. Subjects were classified as being at high, low, or no risk of suicide, depending on their scores on certain items of these scales. Clinical associations between the outcome measures high risk for suicide during acute episode and suicide attempts during follow-up were investigated by 2 sets of logistic regression analyses. The 24-month prevalence of suicide attempters was 12.4%. History of suicide attempts prior to psychotic episode (OR = 20.13; 95% CI, 1.83-220.55; P = .01), severe depressive symptoms (OR = 8.78; 95% CI, 1.15-67.11; P = .003), and antidepressant treatment (OR = 15.56; 95% CI, 2.66-90.86; P = .002) were associated with being classified as high suicide risk at baseline. The categorization of high suicide risk at baseline predicted suicide attempts during follow-up (OR = 81.66; 95% CI, 11.61-574.35; P = .000). Suicide is a major concern in early-onset first-episode psychosis. Suicidal behavior and depressive symptoms at psychosis onset are important signs to be aware of to prevent suicide attempts during the early period after first-episode psychosis. © Copyright 2013 Physicians Postgraduate Press, Inc.

  4. Clinical and histopathological features of cutaneous manifestations of adult-onset Still disease.

    Science.gov (United States)

    Santa, Erin; McFalls, Jeanne M; Sahu, Joya; Lee, Jason B

    2017-06-01

    Adult-onset Still disease (AOSD) is a rare autoinflammatory syndrome characterized by recurring fevers, arthralgia, and consistent laboratory abnormalities that include leukocytosis and hyperferritinemia. Skin findings accompany the disease in nearly 90% of the cases. Early reports described evanescent, pruritic, salmon-pink or urticarial lesions, referred to as the typical eruption of AOSD. Histopathologic findings consist of superficial perivascular dermatitis with varying number of interstitial neutrophils. Later reports described a more persistent rash that tended to be photodistributed, hyperpigmented, often in a linear configuration, sometimes in a rippled pattern, referred to as the atypical eruption of AOSD. The presence of individual necrotic keratinocytes in the upper spinous layer has been the consistent histopathologic finding. The persistent rash may not represent an atypical presentation of AOSD as recent reports indicate a high prevalence of the rash. Emerging data also suggest that patients with persistent eruption have a worse prognosis. The recognition of the clinical and histopathological findings of skin eruptions of AOSD may facilitate an earlier diagnosis, potentially improving disease outcome. Herein, clinical and histopathological features of cutaneous manifestation of AOSD in 2 Asian women are highlighted accompanied by a relevant review of the disease. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  5. Early onset erectile dysfunction is usually not associated with abnormal cavernosal arterial Inflow.

    Science.gov (United States)

    Rajfer, J; Valeriano, J; Sinow, R

    2013-01-01

    Endothelial dysfunction, a marker for atherosclerosis and hence arterial disease, has recently been proffered as the main offender within the vascular system to predict not only the future onset of erectile dysfunction (ED) but also as the main cause of the ED. To glean more insight into whether arterial disease is indeed operative during the early onset of ED, we reviewed the duplex ultrasound scans of 23 men with ED who were younger than 50 years of age. Depending on the criteria used for abnormal arterial responses, it was determined in this cohort of young men that there was only a 4-13% incidence of abnormal arterial responses. These observations suggest that the penile arterial system does not appear to be primarily involved in the etiology of the majority cases of ED that occur in young men.

  6. The Final 24-Item Early Onset Scoliosis Questionnaires (EOSQ-24): Validity, Reliability and Responsiveness.

    Science.gov (United States)

    Matsumoto, Hiroko; Williams, Brendan; Park, Howard Y; Yoshimachi, Julie Y; Roye, Benjamin D; Roye, David P; Akbarnia, Behrooz A; Emans, John; Skaggs, David; Smith, John T; Vitale, Michael G

    2018-03-01

    The goal of early-onset scoliosis (EOS) treatment is to improve health-related quality of life (HRQoL) for patients and to reduce the burden on their parents or caregivers. The purpose of this study is to develop and finalize the 24-item Early-Onset Scoliosis Questionnaire (EOSQ-24), and examine the validity, reliability, and responsiveness of the EOSQ-24 in measuring patients' HRQoL, the burden on their caregivers, and the burden on their caregiver's finances. The study also established aged-matched normative values for the EOSQ-24. The EOSQ-24 was administered to caregivers of male and female patients aged 0 to 18 years with EOS. Patients with EOS are diagnosed before 10 years of age. Criterion validity was investigated by measuring agreement between its scores and pulmonary function testing. Construct validity was established by comparing values across different etiology groups using the known-group method, and measuring internal consistency reliability. Content validity was confirmed by reviewing caregiver and health provider ratings for the relativity and clarity of the EOSQ-24 questions. Test-retest reliability was examined through intraclass correlation coefficients. Responsiveness of the EOSQ-24 before and after surgical interventions was also investigated. Age-matched, healthy patients, without spinal deformity, were enrolled to establish normative EOSQ-24 values. The pulmonary function subdomain score in the EOSQ-24 was positively correlated with pulmonary function testing values, establishing criterion validity. The EOSQ-24 scores for neuromuscular patients were significantly decreased compared with idiopathic or congenital/structural patients, demonstrating known-group validity. Internal consistency reliability of patients' HRQoL was excellent (0.92), but Family Burden was questionable (0.64) indicating that Parental Burden and Financial Burden should be in separate domains. All 24 EOSQ items were rated as essential and clear, confirming content

  7. Allergy to dust mites may contribute to early onset and severity of alopecia areata.

    Science.gov (United States)

    Li, S F; Zhang, X T; Qi, S L; Ye, Y T; Cao, H; Yang, Y Q; McElwee, K J; Zhang, X

    2015-03-01

    A higher risk of allergic diseases such as rhinitis, asthma and atopic eczema (atopic dermatitis) has been reported for patients with alopecia areata (AA) compared with the general population, but the significance of this is still largely unclear. To determine whether serum total or specific IgE play a role in the onset and severity of AA. We tested 461 serum samples from 351 patients with AA and 110 healthy controls (HC) for total IgE (tIgE) and specific IgE (sIgE) by ImmunoCAP-100 or in vitro test (IVT). The absolute value of tIgE was higher in patients with AA than in normal controls (P 120 IU/mL) detected in patients with AA (29.3%) was similar to that of HC (21.8%). Prevalences of raised sIgE against various allergens detected by ImmunoCAP-100 showed that Dermatophagoides pteronyssinus (Der p; 31.1%) and Dermatophagoides farinae (Der f; 29.0%) were the most common allergens. Similar results were found by IVT, with the most common response being against Der p/Der f (29.0%). However, the prevalences of tIgE and sIgE against dust mites (Der p and Der f) in patients with early-onset AA and severe AA were significantly higher than those with late-onset AA and mild AA (P = 0.02, P = 0.02 vs. P = 0.03 and P = 0.001, respectively). Notably, the increases in tIgE and sIgE were independent of atopy history. Allergy to dust mites may have an effect on the immune response in AA, and may contribute to its early onset and severity in patients of Chinese origin. © 2014 British Association of Dermatologists.

  8. Clinical course and outcome of early rheumatoid arthritis.

    Science.gov (United States)

    Papadopoulos, I A; Katsimbri, P; Katsaraki, A; Temekonidis, T; Georgiadis, A; Drosos, A A

    2001-07-01

    We studied whether patients with seropositivity in early rheumatoid arthritis (RA) comprise a different clinical group than those with seronegativity. Four hundred seventeen patients with early RA according to the American College of Rheumatology criteria (disease duration less than 1 year) were retrospectively studied by analysis of demographic, clinical, laboratory, radiological, and therapeutic disease characteristics from the time of diagnosis until the end of the study period (1981 1999) using a data base. There were 248 seropositive patients and 169 seronegative patients with RA. No statistically significant differences were seen between the two groups before commencement of the study period in relation to age of disease onset, male:female ratio, and disease duration. However, seropositive patients showed longer medical follow-up. In addition, at disease onset, seropositive RA patients presented more frequently with symmetrical polyarthritis and small joint involvement than seronegative patients. The seropositive group also had more tender and swollen joints, weaker grip strength, and higher erythrocyte sedimentation and C-reactive protein rates during the follow-up period. In contrast, the seronegative group had less severe radiological findings and greater functional ability at the end of the study. In Greek patients with early RA, rheumatoid factor seems to be a predictor of more severe disease activity.

  9. [Clinical features and adverse pregnancy outcomes of new onset systemic lupus erythematosus during pregnancy].

    Science.gov (United States)

    Zhan, Z P; Yang, Y; Zhan, Y F; Chen, D Y; Liang, L Q; Yang, X Y

    2016-11-08

    Objective: To investigate the clinical characteristics and adverse pregnancy outcomes in pregnant women with new onset systemic lupus erythematosus (SLE) during pregnancy. Methods: The clinical data of 263 pregnancies with SLE in the First Affiliated Hospital of Zhongshan University from 2001 to 2015 were collected and analyzed retrospectively. Results: Of all the 263 pregnancies, 188 were diagnosed before pregnancy and 75 were newly diagnosed during pregnancy. Among the 75 new onset SLE, 27, 31, 14 and 3 cases were diagnosed during first trimester, second trimester, third trimester and puerperium, respectively. Active lupus was noted in 81.3% of the patients with new onset SLE. The main clinical manifestations of new onset SLE were lupus nephritis (57.3%) and thrombocytopenia (38.7%). SLEPDAI scores as well as the prevalence of lupus nephritis, and thrombocytopenia in patients with new onset SLE was higher than those in the previously diagnosed ones ( P pregnancies, adverse pregnancy outcomesoccurred in 53 patients, including 34 with pregnancy loss, 15with premature, 8with intrauterine growth restriction, 5with fetal distress and5 with neonatal lupus. Compared with patients withnon-newonset SLE, patients with newonset SLEhad a higher prevalence of adverse pregnancy outcomes (56.4% vs 70.7%, P pregnancy loss (21.8% vs 45.3%, P lupus nephritis and thrombocytopenia. Patients with new onset SLE were more prone to active lupus, lupus nephritis and thrombocytopenia, as well as more adverse pregnancy outcomes and pregnancy loss.

  10. Caregivers' perspectives on the pre-diagnostic period in early onset dementia: a long and winding road

    NARCIS (Netherlands)

    van Vliet, D.; de Vugt, M.E.; Bakker, C.; Koopmans, R.T.C.M.; Pijnenburg, Y.A.L.; Vernooij-Dassen, M.; Verhey, F.R.J.

    2011-01-01

    Background: Recognizing and diagnosing early onset dementia (EOD) can be complex and often takes longer than for late onset dementia. The objectives of this study are to investigate the barriers to diagnosis and to develop a typology of the diagnosis pathway for EOD caregivers. Methods:

  11. Early-Onset Alopecia and Amyotrophic Lateral Sclerosis: A Cohort Study

    Science.gov (United States)

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

    2013-01-01

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

  12. Is an Early Age at Illness Onset in Schizophrenia Associated With Increased Genetic Susceptibility? Analysis of Data From the Nationwide Danish Twin Register.

    Science.gov (United States)

    Hilker, Rikke; Helenius, Dorte; Fagerlund, Birgitte; Skytthe, Axel; Christensen, Kaare; Werge, Thomas M; Nordentoft, Merete; Glenthøj, Birte

    2017-04-01

    Early age at illness onset has been viewed as an important liability marker for schizophrenia, which may be associated with an increased genetic vulnerability. A twin approach can be valuable, because it allows for the investigation of specific illness markers in individuals with a shared genetic background. We linked nationwide registers to identify a cohort of twin pairs born in Denmark from 1951 to 2000 (N=31,524 pairs), where one or both twins had a diagnosis in the schizophrenia spectrum. We defined two groups consisting of; N=788 twin pairs (affected with schizophrenia spectrum) and a subsample of N=448 (affected with schizophrenia). Survival analysis was applied to investigate the effect of age at illness onset. We found that early age at illness onset compared to later onset in the first diagnosed twin can be considered a major risk factor for developing schizophrenia in the second twin. Additionally, we found that the stronger genetic component in MZ twins compared to DZ twins is manifested in the proximity of assigned diagnosis within pairs. Early onset schizophrenia could be linked to a more severe genetic predisposition, indicating that age might be perceived as a clinical marker for genetic vulnerability for the illness. Copyright © 2017 The Authors. Published by Elsevier B.V. All rights reserved.

  13. Early Lupus Project - A multicentre Italian study on systemic lupus erythematosus of recent onset.

    Science.gov (United States)

    Sebastiani, G D; Prevete, I; Piga, M; Iuliano, A; Bettio, S; Bortoluzzi, A; Coladonato, L; Tani, C; Spinelli, F R; Fineschi, I; Mathieu, A

    2015-10-01

    Systemic lupus erythematosus (SLE) is an autoimmune disease with a high degree of variability at onset that is problematic for a correct and prompt diagnosis. We undertook this project with the purpose of collecting an inception cohort of Italian patients with recent-onset SLE, in order to obtain information on the main clinical and serological characteristics at the beginning of the disease. In this first report we describe the characteristics of this cohort at study entry. All patients with a diagnosis of SLE (1997 ACR criteria) and a disease duration less than 12 months were consecutively enrolled between 1 January 2012 and 31 December 2013 in a multicentre prospective study. Information on clinical and serological characteristics at study entry and then every six months was collected into a specific electronic database. Statistical analysis was performed by means of the Openstat program. Among 122 patients enrolled (103 F) 94.3% were Caucasians. Mean age (SD) of patients at study entry was 37.3 (14.3) years, mean age at disease onset was 34.8 (14.3) years, mean age at diagnosis was 36.9 (14.3) years, and mean disease duration was 2.9 (3.9) months. The frequency of the manifestations included in the 1997 ACR criteria was as follows: ANA 97.5%, immunologic disorders (anti-dsDNA, anti-Sm, antiphospholipid antibodies) 85.2%, arthritis 61.8%, haematologic disorders 55.7%, malar rash 31.1%, photosensitivity 29.5%, serositis 27%, renal disorders 27%, oral/nasal ulcers 11.5%, neurologic disorders 8.2%, and discoid rash 5.7%. The cumulative frequency of mucocutaneous symptoms was 77.8%. At enrolment, autoantibody frequency was: ANA 100%, anti-dsDNA 83.6%, anti-SSA 28%, anticardiolipin 24.5%, anti-nRNP 20.4%, anti-beta2GPI 17.2%, lupus anticoagulant 16.3%, anti-Sm 16%, and anti-SSB 13.1%. In this paper we describe the main clinical and serological characteristics of an Italian inception cohort of patients with recent-onset SLE. At disease onset, mucocutaneous

  14. Effects of early treatment with glatiramer acetate in patients with clinically isolated syndrome

    DEFF Research Database (Denmark)

    Comi, G.; Martinelli, V.; Rodegher, M.

    2013-01-01

    Background: The placebo-controlled phase of the PreCISe study showed that glatiramer acetate delayed onset of clinically definite multiple sclerosis (CDMS) in patients with clinically isolated syndrome and brain lesions on MRI. Objective: To compare the effects of early versus delayed glatiramer ...

  15. Bone Characteristics and Their Determinants in Adolescents and Young Adults with Early-Onset Severe Obesity.

    Science.gov (United States)

    Viljakainen, H T; Valta, H; Lipsanen-Nyman, M; Saukkonen, T; Kajantie, E; Andersson, S; Mäkitie, O

    2015-10-01

    Childhood obesity is associated with compromised bone health. We studied bone characteristics and their determinants in obese young adults. The study included 68 subjects with early-onset severe obesity and 73 normal-weight controls. Data on physical activity (PA), diet and smoking were collected. Bone characteristics were measured using peripheral QCT. The obese and control subjects were similar in age (mean 19.6 ± 2.6 years) and height but BMIs differed (39.7 and 22.6 kg/m(2)). A clustering of unhealthy lifestyles was marked: Obese subjects reported less supervised PA in childhood, adolescence and currently (p obese women, all crude bone characteristics were higher than in controls; in men, the differences were smaller. Associations of lifestyle factors with bone characteristics were tested using partial correlations. Independently of BMI, supervised PA in adolescence and alcohol consumption were related positively to bone characteristics in both groups. HEI associated positively with bone characteristics only in controls, while smoking was a positive determinant of bone characteristics only in obese subjects. The multivariate model showed that the contribution of lifestyle factors to bone characteristics was minimal compared with BMI. Early-onset obesity is accompanied by poor dietary quality, sedentary lifestyle, and more frequent smoking, but the overall contribution of these lifestyle factors to bone strength is limited. Bone strength is more likely to be compromised in men and in unloaded bone sites in subjects with early-onset severe obesity. The impact of obesity-related endocrine changes on bone characteristics need to be evaluated in future studies.

  16. Magnesium sulphate can prolong pregnancy in patients with severe early-onset preeclampsia.

    Science.gov (United States)

    Ueda, Akihiko; Kondoh, Eiji; Kawasaki, Kaoru; Mogami, Haruta; Chigusa, Yoshitsugu; Konishi, Ikuo

    2016-10-01

    To assess whether long-term use of magnesium sulphate prolongs pregnancy in patients with severe early-onset preeclampsia. Retrospective cohort study included all singleton pregnancies with severe early-onset preeclampsia, expectantly managed in our institution between 2005 and 2013. Obstetric and perinatal outcomes were compared between patients managed using a current protocol that tolerates long-term (over 48 h) use of magnesium sulphate (long-term group, n = 26) and a historical control group (control group, n = 15) that underwent conventional treatment (up to 48 h use of magnesium sulphate). Long-term group showed significant prolongation of pregnancy compared with the control group (9.2 ± 7.9 versus 16.6 ± 9.3 d, log-rank test, p = 0.021), which was also observed in patients with severe preeclampsia occurring before 28 weeks' gestation (n = 11, 4.5 ± 5.2 versus 13.2 ± 6.8 d, log-rank test, p = 0.035). In contrast to a progressive decrease of platelet count in patients managed without magnesium sulphate, administration of magnesium sulphate for 7 d prevented the decrease of platelet count (p = 0.001). Thirty two percent of patients (13/41) experienced a major complication irrespective of duration of magnesium sulphate use. Long-term use of magnesium sulphate prolonged pregnancy in patients with severe early-onset preeclampsia and can help alleviate progression of preeclampsia.

  17. Mitochondrial Myopathy: A Rare Cause of Early-Onset Vocal Fold Atrophy

    Science.gov (United States)

    Kelly, Elizabeth A.; Bock, Jonathan M.; Peltier, Amanda C.; Oh, Shin J.; Garrett, C. Gaelyn

    2014-01-01

    Objectives We present the second published case of laryngeal involvement in mitochondrial myopathy. Methods A patient with laryngeal involvement of mitochondrial myopathy is presented, together with a literature review. Results A 41-year-old man presented with progressive breathy dysphonia. His brother had mitochondrial myopathy. Biopsy of the biceps muscle demonstrated cytochrome C oxidase–negative ragged blue fibers confirming mitochondrial myopathy. Videostroboscopy showed marked vocal fold atrophy, but subsequent injection laryngoplasty did not significantly improve the patient’s voice, despite improved postoperative glottic closure. Conclusions Mitochondrial myopathy should be considered in the differential diagnosis of severe early-onset vocal fold atrophy. PMID:23577570

  18. Functional and Radiographic Outcomes Following Growth-Sparing Management of Early-Onset Scoliosis.

    Science.gov (United States)

    Johnston, Charles E; Tran, Dong-Phuong; McClung, Anna

    2017-06-21

    In this study, we sought to evaluate radiographic, functional, and quality-of-life outcomes of patients who have completed growth-sparing management of early-onset scoliosis. This prospective study involved patients with early-onset scoliosis who underwent growth-sparing treatment and either "final" fusion or observation for ≥2 years since the last lengthening procedure. Demographics, radiographic parameters, pulmonary function test (PFT) values, and scores of patient-reported assessments (Early-Onset Scoliosis Questionnaire [EOSQ] and Scoliosis Research Society [SRS]-30) were obtained. At the most recent follow-up, patients performed 2 additional functional outcome tests: step-activity monitoring and a treadmill exercise-tolerance test. Twelve patients were evaluated as "graduates" of growth-sparing management of early-onset scoliosis (mean of 37 months since the most recent surgery). The major scoliosis curve measurement averaged 88° before treatment and 47° at the most recent follow-up. T1-S1 height increased from a mean of 22.3 cm to 34.7 cm and T1-T12 height, from 13.3 to 22.3 cm. At the most recent follow-up, the mean forced expiratory volume in 1 second (FEV1) and forced vital capacity (FVC) as a percentage of the predicted volume were 52.1% and 55.3%, respectively, and were essentially unchanged from the earliest PFT that patients could perform (FEV1 = 53.8% of predicted and FVC = 53.5% of predicted). There was no difference between graduates and controls with respect to activity time or total steps in step-activity monitoring, and in the exercise-tolerance test, graduates walked at the same speed but at a higher heart rate and at a significantly higher (p scoliosis appears to be spine elongation and maintenance of pulmonary function at a level that is no less than the percentage of normal at initial presentation. Functional testing and patient-reported outcomes at a mean of 3 years from the last surgery suggest that activity levels were generally equal

  19. Early onset sepsis in Suriname: Epidemiology, Pathophysiology and Novel Diagnostic Concepts

    OpenAIRE

    Zonneveld, Rens

    2017-01-01

    Early Onset Sepsis (EOS) wordt gedefinieerd als een bacteriële infectie in de bloedbaan van een pasgeborene binnen 72 uur na geboorte. In Westerse landen krijgt 1 op de 1000 (0.1%) pasgeborenen EOS. Het tijdig aantonen of uitsluiten van EOS is moeilijk en veel pasgeborenen worden te laat of onnodig behandeld met antibiotica. Het onderzoek in dit proefschrift richt zich op EOS in Suriname en op de ontstekingsreactie in het bloedvat en daarop gebaseerde methoden van detectie voor het stellen va...

  20. Management of early onset neonatal sepsis differs in the north and south of Scandinavia

    DEFF Research Database (Denmark)

    Drageset, Martin; Fjalstad, Jon Widding; Mortensen, Sven

    2017-01-01

    AIM: This study compared the management and outcomes of early-onset neonatal sepsis (EONS) in two tertiary neonatal units in Denmark and Norway. METHODS: We retrospectively studied all infants diagnosed with EONS between April 2010 and March 2013 and managed at Odense University Hospital, Denmark...... blood cultures had higher C-reactive protein levels than patients with negative blood cultures and higher sepsis-attributable mortality. Lumbar punctures were performed more frequently in Denmark. CONCLUSION: There were marginal differences in the management of EONS between units in Denmark and Norway...

  1. Sibling Sex Ratio and Birth Order in Early-Onset Gender Dysphoric Adolescents

    OpenAIRE

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

    2011-01-01

    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 dysphor...

  2. Interleukin- 1 gene polymorphisms as assessed in a 10-year study of patients with early-onset periodontitis.

    Science.gov (United States)

    Krátká, Z; Bártová, J; Krejsa, O; Otcenásková, M; Janatova, T; Dusková, J

    2007-01-01

    Our 10-year study of early-onset periodontitis (EOP) patients includes repeated clinical observations, microbiological characteristics and analysis of genetic polymorphism of IL-1A and IL-1B genes. Twenty patients (age 15-26 years) were divided according to the clinical status in the 4th year into a group with mean number of teeth with bleeding on probing (BP) 9.8 and mean number of teeth with periodontal pocket (PP) 2.23, and a group with mean number of teeth with BP 5.37 and no PP. Significantly higher values of mean BP and PP were found among the groups during the study but a strong progression of disease was found only in 3 patients. The risk IL-1A allele-2 and IL-1B allele-2 genotype and bacterial presence were analyzed by DNA hybridization methods. No significant differences of bacteria composition (Treponema denticola, Porphyromonas gingivalis, Actinobacillus actinomycetemcomitans) were found between the groups. A higher prevalence of composite IL-1 genotype was detected in the group of EOP patients with progressive disease. Early finding of the disease followed by conservative therapy could positively influence the disease progression. EOP treated in early stages may, but need not, develop into the aggressive form in the presence of risk genotype IL-1.

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

    Science.gov (United States)

    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

    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. PMID:20669232

  4. Cardiovascular Disease Risk Factors After Early-Onset Preeclampsia, Late-Onset Preeclampsia, and Pregnancy-Induced Hypertension

    NARCIS (Netherlands)

    Veerbeek, Jan H. W.; Hermes, Wietske; Breimer, Anath Y.; van Rijn, Bas B.|info:eu-repo/dai/nl/304816582; Koenen, Steven V.|info:eu-repo/dai/nl/239456742; Mol, Ben W.; Franx, Arie|info:eu-repo/dai/nl/157009939; de Groot, Christianne J. M.; Koster, Maria P. H.; Koster, M.P.H. (Wendy)|info:eu-repo/dai/nl/314064192

    Observational studies have shown an increased lifetime risk of cardiovascular disease (CVD) in women who experienced a hypertensive disorder in pregnancy. This risk is related to the severity of the pregnancy-related hypertensive disease and gestational age at onset. However, it has not been

  5. Clinical and genetic study of a juvenile-onset Huntington disease

    Directory of Open Access Journals (Sweden)

    HAO Ying

    2012-06-01

    Full Text Available Background Huntington's disease (HD is an autosomal dominant hereditary progressive neurodegenerative disorder with a distinct phenotype characterized by chorea, dementia, cognitive and affective impairment. There are selective neural cell loss and atrophy in the caudate and putamen. Dr. George Huntington firstly described the disease accurately and insightfully, which led to a widespread recognition of the inherited chorea that now bears his name. Huntington disease gene (IT15 locus on chromosome 4p16.3, and encompasses 67 exons with a trinucleotide repeat (CAG in the first exon. The CAG repeat length is highly polymorphic in the population and expanded on at least one chromosome of individuals with HD. Clinically, patient with HD are often onset in adulthood. Juvenile-onset HD is relatively rare. Adult-onset HD patients usually have a CAG expansion from 40 to 55 whereas those with juvenile-onset greater than 60 which are often inherited from the father. We investigated the clinical features of a juvenile-onset case with Huntington disease and dynamic mutation of his family. Methods The CAG repeats of IT15 gene were detected using polymerase chain reaction and capillary electrophoresis in 115 individuals with preliminary diagnosis as Huntington disease. The repeat numbers of some samples carried expanded or intermediate alleles were verified by the pMD18-T vector clone sequencing. Results Fragment analysis showed that one juvenile-onset case presenting with cognitive dysfunction and hypokinesis carried 15/68 CAG repeats of IT15. His father carried 17/37 and mother carried 15/17. Conclusion 1 The juvenile-onset case of HD presented with different clinical features compared with adult-onset cases. The typical signs of adult-onset cases include progressive chorea, rigidity and dementia. The most common sign of juvenile-onset Huntington disease is cognitive decline. 2 The dynamic mutation of IT15 gene expansion of the CAG repeats in the

  6. Characterization of the onset of embryonic control and early development in the bovine embryo

    International Nuclear Information System (INIS)

    Barnes, F.L.

    1988-01-01

    Bovine embryos were used to determine if morphological and molecular features of early development are similar to in vivo recovered bovine embryos and to determine at what level early bovine development is regulated. Radiolabeling of IVP embryos and in vivo recovered embryos with 35 S-methionine for SDS-polyacrylamide gel electrophoresis reveals that these embryos are equivalent. Few differences in protein profiles are observed between 1- and early 4-cell embryos. A change in protein profiles begins at the mid 4-cell stage and continues into the 8-cell stage. Few differences in protein profiles are observed between 1- and early 4-cell embryos. A change in protein profiles begins at the mid 4-cell stage and continues into the 8-cell stage. Few differences in protein profiles are observed between late 8-cells and morulae. This transition is α-amanitin sensitive therefore due to de novo embryonic transcription. Embryonic transcription is partially responsible for terminating the post-transcriptionally regulated period of early bovine development. Argentophillic nucleolar organizing regions (Ag-NORs) indicate onset of nucleolar activation. Ag-NORs were absent in 2- and 4-cell IVP embryos and rarely occurred in 8-cell IVP embryos cultured in vitro. IVP 1- and 2-cell embryos cultured to blastocysts in sheep oviducts demonstrated Ag-NORs. Thus the lack of nucleolar activation of IVP embryos cultured in vitro is culture induced between the 2- and 8-cell stage

  7. Neuropsychological functioning in early-onset first-episode psychosis: comparison of diagnostic subgroups.

    Science.gov (United States)

    Zabala, Arantzazu; Rapado, Marta; Arango, Celso; Robles, Olalla; de la Serna, Elena; González, Cristina; Rodríguez-Sánchez, José Manuel; Andrés, Patricia; Mayoral, María; Bombín, Igor

    2010-04-01

    The aims of this study were to examine the nature and extent of cognitive impairment in first-episode early-onset psychosis (FE-EOP) soon after their stabilisation and to search for potential differences according to specific diagnostic sub-groups of patients. As part of a Spanish multicentre longitudinal study, 107 FE-EOP patients and 98 healthy controls were assessed on the following cognitive domains: attention, working memory, executive functioning, and verbal learning and memory. Three diagnostic categories were established in the patient sample: schizophrenia (n = 36), bipolar disorder (n = 19), and other psychosis (n = 52). Patients performed significantly worse than controls in all cognitive domains. The three diagnostic sub-groups did not differ in terms of impaired/preserved cognitive functions or degree of impairment. FE-EOP patients show significant cognitive impairment that, during this early phase, seems to be non-specific to differential diagnosis.

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

    DEFF Research Database (Denmark)

    Jepsen, Jens Richardt M; Fagerlund, Birgitte; Pagsberg, Anne Katrine

    2010-01-01

    shifting but not speed of processing of executive functions was significantly subnormal in EOS patients. Other specific cognitive functions that had attained functional maturity in the healthy controls before or around the time of the baseline assessment showed normal development in EOS patients during......The few existing long-term, neuropsychological follow-up studies of early onset schizophrenia (EOS) patients have reported relative stability in some cognitive functions but abnormal developmental trajectories in verbal memory, set shifting, aspects of attention, and speed of information processing......-organic, non-affective psychoses (EOP) (N = 11). Speed of processing of executive functions, set shifting, and attention improved significantly in the healthy controls and reflected continuous functional maturation during late adolescence and early adulthood. The developmental progression of attention and set...

  9. Biallelic Loss of Function of SORL1 in an Early Onset Alzheimer's Disease Patient.

    Science.gov (United States)

    Le Guennec, Kilan; Tubeuf, Hélène; Hannequin, Didier; Wallon, David; Quenez, Olivier; Rousseau, Stéphane; Richard, Anne-Claire; Deleuze, Jean-François; Boland, Anne; Frebourg, Thierry; Gaildrat, Pascaline; Campion, Dominique; Martins, Alexandra; Nicolas, Gaël

    2018-01-01

    Heterozygous SORL1 protein truncating variants (PTV) are a strong risk factor for early-onset Alzheimer's disease (EOAD). In case control studies performed at the genome-wide level, PTV definition is usually straightforward. Regarding splice site variants, only those affecting canonical sites are typically included. Some other variants, not annotated as PTV, could, however, affect splicing and hence result in a loss of SORL1 function. We took advantage of the whole exome sequencing data from the 9/484 patients with a previously reported SORL1 PTV in the French EOAD series and searched for a second variant which may affect splicing and eventually result in more than 50% loss of function overall. We found that one patient, known to carry a variant predicted to disrupt the canonical 5' splice site of exon 8, also carried a second novel intronic variant predicted to affect SORL1 splicing of exon 29. Segregation analysis showed that the second variant was located in trans from the known PTV. We performed ex vivo minigene splicing assays and showed that both variants led to the generation of transcripts containing a premature stop codon. This is therefore the first evidence of a human carrying biallelic SORL1 PTV. This patient had a family history of dementia in both maternal and paternal lineages with later ages of onset than the proband himself. However, his 55 years age at onset was in the same ranges as previously published SORL1 heterozygous PTV carriers. This suggests that biallelic loss of SORL1 function is an extremely rare event that was not associated with a dramatically earlier age at onset than heterozygous SORL1 loss-of-function variant carriers, in this single patient.

  10. Diagnostic delays in children with early-onset epilepsy: impact, reasons, and opportunities to improve care

    Science.gov (United States)

    Berg, Anne T.; Loddenkemper, Tobias; Baca, Christine B.

    2014-01-01

    Purpose Delayed diagnosis of early-onset epilepsy is a potentially important and avoidable complication in epilepsy care. We examined the frequency of diagnostic delays in young children with newly presenting epilepsy, their developmental impact, and reasons for delays. Methods Children who developed epilepsy before their third birthday were identified in a prospective community-based cohort. An interval ≥1 month from second seizure to diagnosis was considered a delay. Testing of development at baseline and for up to three years after and of IQ 8–9 years later was performed. Detailed parental baseline interview accounts and medical records were reviewed to identify potential reasons for delays. Factors associated with delays included the parent, child, pediatrician, neurologist, and scheduling. Results Diagnostic delays occurred in 70/172 (41%) children. Delays occurred less often if children had received medical attention for the first seizure (p<0.0001), previously had neonatal or febrile seizures (p=0.02), had only convulsions before diagnosis (p=0.005) or had a college-educated parent (p=0.01). A ≥1 month diagnostic delay was associated with an average 7.4 point drop (p=0.02) in the Vineland Scales of Adaptive Behavior motor score. The effect was present at diagnosis, persisted for at least three years, and was also apparent in IQ scores 8–9 years later which were lower in association with a diagnostic delay by 8.4 points (p=0.06) for processing speed up to 14.5 points (p=0.004) for full scale IQ, after adjustment for parental education and other epilepsy-related clinical factors. Factors associated with delayed diagnosis included parents not recognizing events as seizures (N=47), pediatricians missing or deferring diagnosis (N=15), neurologists deferring diagnosis (N=7), and scheduling problems (N=11). Significance Diagnostic delays occur in many young children with epilepsy. They are associated with substantial decrements in development and IQ later

  11. Age at onset of major depressive disorder in Han Chinese women: Relationship with clinical features and family history☆

    Science.gov (United States)

    Yang, Fuzhong; Li, Yihan; Xie, Dong; Shao, Chunhong; Ren, Jianer; Wu, Wenyuan; Zhang, Ning; Zhang, Zhen; Zou, Ying; Zhang, Jiulong; Qiao, Dongdong; Gao, Chengge; Li, Youhui; Hu, Jian; Deng, Hong; Wang, Gang; Du, Bo; Wang, Xumei; Liu, Tiebang; Gan, Zhaoyu; Peng, Juyi; Wei, Bo; Pan, Jiyang; Chen, Honghui; Sun, Shufan; Jia, Hong; Liu, Ying; Chen, Qiaoling; Wang, Xueyi; Cao, Juling; Lv, Luxian; Chen, Yunchun; Ha, Baowei; Ning, Yuping; Chen, YiPing; Kendler, Kenneth S.; Flint, Jonathan; Shi, Shenxun

    2011-01-01

    Background Individuals with early-onset depression may be a clinically distinct group with particular symptom patterns, illness course, comorbidity and family history. This question has not been previously investigated in a Han Chinese population. Methods We examined the clinical features of 1970 Han Chinese women with DSM-IV major depressive disorder (MDD) between 30 and 60 years of age across China. Analysis of linear, logistic and multiple logistic regression models was used to determine the association between age at onset (AAO) with continuous, binary and discrete characteristic clinical features of MDD. Results Earlier AAO was associated with more suicidal ideation and attempts and higher neuroticism, but fewer sleep, appetite and weight changes. Patients with an earlier AAO were more likely to suffer a chronic course (longer illness duration, more MDD episodes and longer index episode), increased rates of MDD in their parents and a lower likelihood of marriage. They tend to have higher comorbidity with anxiety disorders (general anxiety disorder, social phobia and agoraphobia) and dysthymia. Conclusions Early AAO in MDD may be an index of a more severe, highly comorbid and familial disorder. Our findings indicate that the features of MDD in China are similar to those reported elsewhere in the world. PMID:21782247

  12. Age at onset of major depressive disorder in Han Chinese women: relationship with clinical features and family history.

    Science.gov (United States)

    Yang, Fuzhong; Li, Yihan; Xie, Dong; Shao, Chunhong; Ren, Jianer; Wu, Wenyuan; Zhang, Ning; Zhang, Zhen; Zou, Ying; Zhang, Jiulong; Qiao, Dongdong; Gao, Chengge; Li, Youhui; Hu, Jian; Deng, Hong; Wang, Gang; Du, Bo; Wang, Xumei; Liu, Tiebang; Gan, Zhaoyu; Peng, Juyi; Wei, Bo; Pan, Jiyang; Chen, Honghui; Sun, Shufan; Jia, Hong; Liu, Ying; Chen, Qiaoling; Wang, Xueyi; Cao, Juling; Lv, Luxian; Chen, Yunchun; Ha, Baowei; Ning, Yuping; Chen, Yiping; Kendler, Kenneth S; Flint, Jonathan; Shi, Shenxun

    2011-12-01

    Individuals with early-onset depression may be a clinically distinct group with particular symptom patterns, illness course, comorbidity and family history. This question has not been previously investigated in a Han Chinese population. We examined the clinical features of 1970 Han Chinese women with DSM-IV major depressive disorder (MDD) between 30 and 60 years of age across China. Analysis of linear, logistic and multiple logistic regression models was used to determine the association between age at onset (AAO) with continuous, binary and discrete characteristic clinical features of MDD. Earlier AAO was associated with more suicidal ideation and attempts and higher neuroticism, but fewer sleep, appetite and weight changes. Patients with an earlier AAO were more likely to suffer a chronic course (longer illness duration, more MDD episodes and longer index episode), increased rates of MDD in their parents and a lower likelihood of marriage. They tend to have higher comorbidity with anxiety disorders (general anxiety disorder, social phobia and agoraphobia) and dysthymia. Early AAO in MDD may be an index of a more severe, highly comorbid and familial disorder. Our findings indicate that the features of MDD in China are similar to those reported elsewhere in the world. Copyright © 2011 Elsevier B.V. All rights reserved.

  13. Neuropsychological evidence for abnormal neurodevelopment associated with early-onset psychoses.

    Science.gov (United States)

    Bombin, I; Mayoral, M; Castro-Fornieles, J; Gonzalez-Pinto, A; de la Serna, E; Rapado-Castro, M; Barbeito, S; Parellada, M; Baeza, I; Graell, M; Payá, B; Arango, C

    2013-04-01

    The longitudinal neuropsychological study of first-episode early-onset psychosis (EOP) patients, whose brain maturation is still in progress at the time of illness onset, provides a unique opportunity to compare their cognitive development with that of healthy subjects, in search of specific patterns resulting from the interaction between neurodevelopmental processes and the presence of psychotic disorders. Method Seventy-five first-episode EOP patients (schizophrenia n = 35; bipolar disorder n = 17; other forms of psychosis n = 23) with a mean age of 15.53 years were assessed with a neuropsychological battery that included measures of attention, working memory, memory and executive functions within 6 months following the onset of the first psychotic symptom (baseline) and 2 years later. Psychotic symptoms were assessed at both times with the Positive and Negative Symptom Scale (PANSS). Seventy-nine healthy subjects matched for age and education served as controls. EOP patients showed significant cognitive impairment at both baseline and the 2-year follow-up, with no significant differences between diagnostic groups at either time. Both healthy controls and EOP patients improved in all cognitive measures, except for patient working memory. Improvement in patient attention lost significance after controlling for psychotic symptom reduction. No significant time/diagnosis interaction was found among patients (p > 0.405). Cognitive impairment in EOP is already present at the first episode, and cognitive development seems to be arrested early in EOP patients compared to their healthy peers, at least for some cognitive functions. These and previous similar results support the neurodevelopmental hypothesis of psychosis.

  14. Very Early-Onset Inflammatory Manifestations of X-Linked Chronic Granulomatous Disease

    Directory of Open Access Journals (Sweden)

    Roxane Labrosse

    2017-09-01

    Full Text Available Chronic granulomatous disease (CGD is a rare primary immune deficiency caused by mutations in genes coding for components of the nicotinamide adenine dinucleotide phosphate oxidase, characterized by severe and recurrent bacterial and fungal infections, together with inflammatory complications. Dysregulation of inflammatory responses are often present in this disease and may lead to granulomatous lesions, most often affecting the gastrointestinal (GI and urinary tracts. Treatment of inflammatory complications usually includes corticosteroids, whereas antimicrobial prophylaxis is used for infection prevention. Curative treatment of both infectious susceptibility and inflammatory disease can be achieved by hematopoietic stem cell transplantation. We report herein three patients with the same mutation of the CYBB gene who presented with very early-onset and severe GI manifestations of X-linked CGD. The most severely affected patient had evidence of antenatal inflammatory involvement of the GI and urinary tracts. Extreme hyperleukocytosis with eosinophilia and high inflammatory markers were observed in all three patients. A Mycobacterium avium lung infection and an unidentified fungal lung infection occurred in two patients both during their first year of life, which is indicative of the severity of the disease. All three patients underwent bone marrow transplantation and recovered fully from their initial symptoms. To our knowledge, these are the first reports of patients with such an early-onset and severe inflammatory manifestations of CGD.

  15. [Knowledge of Andalusian pediatricians and parents about early-onset tooth decay].

    Science.gov (United States)

    González, E; Pérez-Hinojosa, S; Alarcón, J A; Peñalver, M A

    2015-01-01

    To determine the level of knowledge of pediatricians and parents from Andalucía (southern Spain) about early-onset tooth decay, and to assess if pediatricians provide information to parents about pediatric oral care and visits to the pediatric dentist. A random sample of 113 pediatricians and 112 parents with children under 3 years of age received an anonymous questionnaire comprising 14 items for pediatricians and 16 items for parents, grouped into five blocks: visits to the dentist, oral hygiene, caries, nutritional habits, and treatment of caries. The chi-squared test was used to assess differences between groups. Pediatricians showed deficiencies in their knowledge about visits to the dentist and treatment of caries, however their level of knowledge on oral hygiene, tooth decay and nutritional habits were adequate. Parents showed a low level of knowledge in all aspects of the study, mainly about the treatment of tooth decay. There were no significant differences between pediatricians and parents in the knowledge about visits to the dentist, however pediatricians had more knowledge than the parents about hygiene, tooth decay, nutritional habits and treatment (Ptooth decay, and provide more information to parents about the oral care and the possibility of visiting a pediatric dentist. Parents have a very low level of knowledge about early-onset tooth decay, and particularly about treatment. Copyright © 2013 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.

  16. Early-Onset Central Diabetes Insipidus due to Compound Heterozygosity for AVP Mutations.

    Science.gov (United States)

    Bourdet, Karine; Vallette, Sophie; Deladoëy, Johnny; Van Vliet, Guy

    2016-01-01

    Genetic cases of isolated central diabetes insipidus are rare, are mostly due to dominant AVP mutations and have a delayed onset of symptoms. Only 3 consanguineous pedigrees with a recessive form have been published. A boy with a negative family history presented polyuria and failure to thrive in the first months of life and was diagnosed with central diabetes insipidus. Magnetic resonance imaging showed a normal posterior pituitary signal. A molecular genetic analysis of the AVP gene showed that he had inherited a previously reported mutation from his Lebanese father and a novel A>G transition in the splice acceptor site of intron 1 (IVS1-2A>G) from his French-Canadian mother. Replacement therapy resulted in the immediate disappearance of symptoms and in weight gain. The early polyuria in recessive central diabetes insipidus contrasts with the delayed presentation in patients with monoallelic AVP mutations. This diagnosis needs to be considered in infants with very early onset of polyuria-polydipsia and no brain malformation, even if there is no consanguinity and regardless of whether the posterior pituitary is visible or not on imaging. In addition to informing family counseling, making a molecular diagnosis eliminates the need for repeated imaging studies. © 2015 S. Karger AG, Basel.

  17. Introduction of management protocol for early-onset severe pre-eclampsia.

    Science.gov (United States)

    Sakae, Chieko; Sato, Yukiyasu; Kanbayashi, Shota; Taga, Atsuko; Emoto, Ikuko; Maruyama, Shunsuke; Mise, Hiroko; Kim, Tomoko

    2017-04-01

    This quality Improvement study evaluated the applicability of our protocol for early-onset severe pre-eclampsia, prepared in April 2013. We collected data from all women with early-onset severe pre-eclampsia treated at our hospital between March 2008 and August 2015. Neonatal and maternal outcomes were compared between protocol-based (n = 17) and non-protocol-based management groups (n = 28). The latency period was significantly longer in the protocol-based than in the non-protocol-based group (21.9 ± 3.7 vs 11.0 ± 2.9 days). Gestational age at delivery was significantly more advanced in the protocol-based than in the non-protocol-based group (31.4 ± 0.6 vs 29.8 ± 0.4 weeks). Serious neonatal complications were significantly less prevalent in the protocol-based than in the non-protocol-based group (26% vs 79%). Among the protocol components, magnesium sulfate use was the only independent factor contributing to the absence of serious neonatal complications. The percentages of women exhibiting persistent proteinuria or hypertension at one, two and three months post-partum were similar between the groups. Strict adherence to our protocol improved neonatal outcomes without affecting maternal prognosis. Routine use of magnesium sulfate could be the most important component of the protocol. © 2017 Japan Society of Obstetrics and Gynecology.

  18. Serial elongation-derotation-flexion casting for children with early-onset scoliosis.

    Science.gov (United States)

    Canavese, Federico; Samba, Antoine; Dimeglio, Alain; Mansour, Mounira; Rousset, Marie

    2015-12-18

    Various early-onset spinal deformities, particularly infantile and juvenile scoliosis (JS), still pose challenges to pediatric orthopedic surgeons. The ideal treatment of these deformities has yet to emerge, as both clinicians and surgeons still face multiple challenges including preservation of thoracic motion, spine and cage, and protection of cardiac and lung growth and function. Elongation-derotation-flexion (EDF) casting is a technique that uses a custom-made thoracolumbar cast based on a three-dimensional correction concept. EDF can control progression of the deformity and - in some cases-coax the initially-curved spine to grow straighter by acting simultaneously in the frontal, sagittal and coronal planes. Here we provide a comprehensive review of how infantile and JS can affect normal spine and thorax and how serial EDF casting can be used to manage these spinal deformities. A fresh review of the literature helps fully understand the principles of the serial EDF casting technique and the effectiveness of conservative treatment in patients with early-onset spinal deformities, particularly infantile and juvenile scolisois.

  19. Candidate predisposing germline copy number variants in early onset colorectal cancer patients.

    Science.gov (United States)

    Brea-Fernandez, A J; Fernandez-Rozadilla, C; Alvarez-Barona, M; Azuara, D; Ginesta, M M; Clofent, J; de Castro, L; Gonzalez, D; Andreu, M; Bessa, X; Llor, X; Xicola, R; Jover, R; Castells, A; Castellvi-Bel, S; Capella, G; Carracedo, A; Ruiz-Ponte, C

    2017-05-01

    A great proportion of the heritability of colorectal cancer (CRC) still remains unexplained, and rare variants, as well as copy number changes, have been proposed as potential candidates to explain the so-called 'missing heritability'. We aimed to identify rare high-to-moderately penetrant copy number variants (CNVs) in patients suspected of having hereditary CRC due to an early onset. We have selected for genome-wide copy number analysis, 27 MMR-proficient early onset CRC patients (1% in the in-house control CNV database (n = 629 healthy controls). Copy number assignment was checked by duplex real-time quantitative PCR or multiplex ligation probe amplification. Somatic mutation analysis in candidate genes included: loss of heterozygosity studies, point mutation screening, and methylation status of the promoter. We have identified two rare germline deletions involving the AK3 and SLIT2 genes in two patients. The search for a second somatic mutational event in the corresponding CRC tumors showed loss of heterozygosity in AK3, and promoter hypermethylation in SLIT2. Both genes have been previously related to colorectal carcinogenesis. These findings suggest that AK3 and SLIT2 may be potential candidates involved in genetic susceptibility to CRC.

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

    Directory of Open Access Journals (Sweden)

    Chemali Z

    2012-01-01

    Full Text Available Z Chemali1–3, S Schamber2, EC Tarbi2, D Acar1,2, M Avila-Urizar21Harvard Medical School, 2Departments of Neurology and Psychiatry, Division of Cognitive and Behavioral Neurology, Brigham and Women’s Hospital, 3Departments of Psychiatry and Neurology, Massachusetts General Hospital, Boston, MA, USAAbstract: Recent studies indicate that the prevalence of early onset dementia (EOD is more common than it was once presumed. As such, and considering the substantial challenges EOD presents to the patient, caregivers, and health care providers, this study sought to investigate the mechanism of care delivered to these patients. A medical record chart review was conducted for 85 patients attending a memory disorder unit who initially presented to rule out EOD as a working diagnosis. The results suggest that while the majority of these patients received an extensive work-up and were heavily medicated, they remained at home, where they lacked adequate age-related services and could not be placed, despite the crippling caregiver burden. This manuscript is a platform to discuss our current system limitations in the care of these patients with an eye on new opportunities for this challenging group.Keywords: early onset dementia, social work, services, caregiving

  1. Association studies of serotonin system candidate genes in early-onset obsessive-compulsive disorder.

    Science.gov (United States)

    Dickel, Diane E; Veenstra-VanderWeele, Jeremy; Bivens, Nancy Chiu; Wu, Xiaolin; Fischer, Daniel J; Van Etten-Lee, Michelle; Himle, Joseph A; Leventhal, Bennett L; Cook, Edwin H; Hanna, Gregory L

    2007-02-01

    Family-based evidence for association at serotonin system genes SLC6A4, HTR1B, HTR2A, and brain-derived neurotrophic factor (BDNF) has been previously reported in obsessive-compulsive disorder (OCD). Early-onset OCD is a more familial form of the disorder. We used the transmission-disequilibrium test of association at common polymorphisms in each of these genes in 54 parent-child trios ascertained through probands with early-onset OCD. No evidence for association was detected at any of the polymorphisms in the entire set of subjects. Nominally significant association was found at the HTR2A rs6311 polymorphism in subjects with tic disorder and OCD (p = .05), replicating a previous finding in Tourette syndrome and OCD. Nominally significant association was also found for the SLC6A4 HT transporter gene-linked polymorphic region (5-HTTLPR) polymorphism for female subjects (p = .03). Neither association would remain significant after statistical correction for multiple testing. Despite no individual study reporting replication, a pooled analysis of five replication studies of the SLC6A4 5-HTTLPR polymorphism supports association (p = .02). Low power across individual association studies in OCD may lead to a false acceptance of the null hypothesis. Accumulation of evidence from multiple studies will be necessary to evaluate the potential role for these genes in contributing to susceptibility to OCD.

  2. GATA2 is associated with familial early-onset coronary artery disease.

    Directory of Open Access Journals (Sweden)

    Jessica J Connelly

    2006-08-01

    Full Text Available The transcription factor GATA2 plays an essential role in the establishment and maintenance of adult hematopoiesis. It is expressed in hematopoietic stem cells, as well as the cells that make up the aortic vasculature, namely aortic endothelial cells and smooth muscle cells. We have shown that GATA2 expression is predictive of location within the thoracic aorta; location is suggested to be a surrogate for disease susceptibility. The GATA2 gene maps beneath the Chromosome 3q linkage peak from our family-based sample set (GENECARD study of early-onset coronary artery disease. Given these observations, we investigated the relationship of several known and novel polymorphisms within GATA2 to coronary artery disease. We identified five single nucleotide polymorphisms that were significantly associated with early-onset coronary artery disease in GENECARD. These results were validated by identifying significant association of two of these single nucleotide polymorphisms in an independent case-control sample set that was phenotypically similar to the GENECARD families. These observations identify GATA2 as a novel susceptibility gene for coronary artery disease and suggest that the study of this transcription factor and its downstream targets may uncover a regulatory network important for coronary artery disease inheritance.

  3. How Much Do We Know about Adult-onset Primary Tics? Prevalence, Epidemiology, and Clinical Features

    Science.gov (United States)

    Robakis, Daphne

    2017-01-01

    Background Tic disorders are generally considered to be of pediatric onset; however, reports of adult-onset tics exist in the literature. Tics can be categorized as either primary or secondary, with the latter being the larger group in adults. Primary or idiopathic tics that arise in adulthood make up a subset of tic disorders whose epidemiologic and clinical features have not been well delineated. Methods Articles to be included in this review were identified by searching PubMed, SCOPUS, and Web of Science using the terms adult- and late-onset tics, which resulted in 120 unique articles. Duplicates were removed. Citing references were identified using Google Scholar; all references were reviewed for relevance. Results The epidemiologic characteristics, clinical phenomenology, and optimal treatment of adult-onset tics have not been ascertained. Twenty-six patients with adult-onset, primary tics were identified from prior case reports. The frequency of psychiatric comorbidities may be lower in adults than in children, and obsessive compulsive disorder was the most common comorbidity. Adult-onset primary tics tend to wax and wane, occur predominantly in males, are often both motor and phonic in the same individual, and are characterized by a poor response to treatment. Discussion We know little about adult-onset tic disorders, particularly ones without a secondary association or cause. They are not common, and from the limited data available, appear to share some but not all features with childhood tics. Further research will be important in gaining a better understanding of the epidemiology and clinical manifestations of this disorder. PMID:28546883

  4. How Much Do We Know about Adult-onset Primary Tics? Prevalence, Epidemiology, and Clinical Features.

    Science.gov (United States)

    Robakis, Daphne

    2017-01-01

    Tic disorders are generally considered to be of pediatric onset; however, reports of adult-onset tics exist in the literature. Tics can be categorized as either primary or secondary, with the latter being the larger group in adults. Primary or idiopathic tics that arise in adulthood make up a subset of tic disorders whose epidemiologic and clinical features have not been well delineated. Articles to be included in this review were identified by searching PubMed, SCOPUS, and Web of Science using the terms adult- and late-onset tics, which resulted in 120 unique articles. Duplicates were removed. Citing references were identified using Google Scholar; all references were reviewed for relevance. The epidemiologic characteristics, clinical phenomenology, and optimal treatment of adult-onset tics have not been ascertained. Twenty-six patients with adult-onset, primary tics were identified from prior case reports. The frequency of psychiatric comorbidities may be lower in adults than in children, and obsessive compulsive disorder was the most common comorbidity. Adult-onset primary tics tend to wax and wane, occur predominantly in males, are often both motor and phonic in the same individual, and are characterized by a poor response to treatment. We know little about adult-onset tic disorders, particularly ones without a secondary association or cause. They are not common, and from the limited data available, appear to share some but not all features with childhood tics. Further research will be important in gaining a better understanding of the epidemiology and clinical manifestations of this disorder.

  5. Clinical follow up of Mexican women with early onset of breast cancer and mutations in the BRCA1 and BRCA2 genes Estudio de seguimiento clínico de mujeres mexicanas con cáncer de mama de inicio temprano y mutaciones en los genes BRCA1 y BRCA2

    Directory of Open Access Journals (Sweden)

    Ana Laura Calderón-Garcidueñas

    2005-04-01

    Full Text Available OBJECTIVE: This study describes the presence of mutations in BRCA1 and BRCA2 genes in a group of Mexican women and the clinical evolution of early onset breast cancer (EOBC. MATERIAL AND METHODS: A prospective hospital-based study was performed in a sample of 22 women with EOBC (7 in clinical stage IIA, 8 in IIB, and 7 in IIIA. The patients attended a tertiary care hospital in northeastern Mexico in 1997 and were followed up over a 5-year period. Molecular analysis included: 1 a mutation screening by heteroduplex analysis (HA of BRCA1 and BRCA2 genes and 2 a sequence analysis. RESULTS: Of 22 patients, 14 (63.6% showed a variant band detected by heteroduplex analysis of the BRCA1 and BRCA2 genes: 8 polymorphisms, 4 mutations of uncertain significance, and 2 novel truncated protein mutations, one in BRCA1 (exon 11, 3587delT and the other in the BRCA2 gene (exon 11, 2664InsA. CONCLUSIONS: These findings support future studies to determine the significance and impact of the genetic factor in this Mexican women population.OBJETIVO: Describir la presencia de mutaciones en los genes BRCA1 y BRCA2 y la evolución clínica de un grupo de mujeres con carcinoma mamario de inicio temprano (CMIT. MATERIAL Y MÉTODOS: Se realizó un estudio hospitalario, prospectivo, en una muestra de 22 pacientes con CMIT (siete en etapa clínica IIA, ocho en la IIB y siete en etapa IIIA. Las pacientes fueron atendidas en un hospital del noreste de México en 1997 y se realizó un seguimiento clínico durante cinco años. El análisis molecular incluyó: 1 análisis heterodúplex (AH para detectar bandas variantes en la secuencia de ADN de los genes BRCA1 y BRCA2, y 2 análisis de secuenciación. RESULTADOS: De 22 pacientes, 14 (63.6% mostraron banda variante por AH en los genes BRCA1 y BRCA2: ocho polimorfismos, cuatro mutaciones de significado incierto y dos mutaciones noveles con proteína truncada, una en BRCA1 (exón 11, 3587delT y otra en BRCA2 (exón 11, 2664Ins

  6. The Relative Importance of Family History, Gender, Mode of Onset, and Age at Onsetin Predicting Clinical Features of First-Episode Psychotic Disorders.

    Science.gov (United States)

    Compton, Michael T; Berez, Chantal; Walker, Elaine F

    Family history of psychosis, gender, mode of onset, and age at onset are considered prognostic factors important to clinicians evaluating first-episode psychosis; yet, clinicians have little guidance as to how these four factors differentially predict early-course substance abuse, symptomatology, and functioning. We conducted a "head-to-head comparison" of these four factors regarding their associations with key clinical features at initial hospitalization. We also assessed potential interactions between gender and family history with regard to age at onset of psychosis and symptom severity. Consecutively admitted first-episode patients (n=334) were evaluated in two studies that rigorously assessed a number of early-course variables. Associations among variables of interest were examined using Pearson correlations, χ 2 tests, Student's t-tests, and 2×2 factorial analyses of variance. Substance (nicotine, alcohol, and cannabis) abuse and positive symptom severity were predicted only by male gender. Negative symptom severity and global functioning impairments were predicted by earlier age at onset of psychosis. General psychopathology symptom severity was predicted by both mode of onset and age at onset. Interaction effects were not observed with regard to gender and family history in predicting age at onset or symptom severity. The four prognostic features have differential associations with substance abuse, domains of symptom severity, and global functioning. Gender and age at onset of psychosis appear to be more predictive of clinical features at the time of initial evaluation (and thus presumably longer term outcomes) than the presence of a family history of psychosis and a more gradual mode of onset.

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

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    Suzuki Katsuaki

    2008-12-01

    Full Text Available Abstract 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

  8. Construct Validity and Reliability of the SARA Gait and Posture Sub-scale in Early Onset Ataxia

    NARCIS (Netherlands)

    Lawerman, Tjitske F.; Brandsma, Rick; Verbeek, Renate J.; van der Hoeven, Johannes H.; Lunsing, Roelineke J.; Kremer, Hubertus P. H.; Sival, Deborah A.

    2017-01-01

    Aim: In children, gait and posture assessment provides a crucial marker for the early characterization, surveillance and treatment evaluation of early onset ataxia (EOA). For reliable data entry of studies targeting at gait and posture improvement, uniform quantitative biomarkers are necessary.

  9. Reduced Expression of FOXP3 and Regulatory T-Cell Function in Severe Forms of Early-onset Autoimmune Enteropathy

    NARCIS (Netherlands)

    Moes, Nicolette; Rieux-Laucat, Frederic; Begue, Bernadette; Verdier, Julien; Neven, Benedicte; Patey, Natacha; Torgerson, Troy T.; Picard, Capucine; Stolzenberg, Marie-Claude; Ruemmele, Corinne; Rings, Edmond Hhm; Casanova, Jean-Laurent; Piloquet, Hugues; Biver, Armand; Breton, Anne; Ochs, Hans D.; Hermine, Olivier; Fischer, Alain; Goulet, Olivier; Cerf-Bensussan, Nadine; Ruemmele, Frank M.

    BACKGROUND & AIMS: Little is known about the pathophysiology of early onset forms of autoimmune enteropathy (AIE). AIE has been associated with mutations in FOXP3-a transcription factor that controls regulatory T-cell development and function. We analyzed the molecular basis of neonatal or early

  10. Network for Early Onset Cystic Kidney Diseases-A Comprehensive Multidisciplinary Approach to Hereditary Cystic Kidney Diseases in Childhood.

    Science.gov (United States)

    König, Jens Christian; Titieni, Andrea; Konrad, Martin

    2018-01-01

    Hereditary cystic kidney diseases comprise a complex group of genetic disorders representing one of the most common causes of end-stage renal failure in childhood. The main representatives are autosomal recessive polycystic kidney disease, nephronophthisis, Bardet-Biedl syndrome, and hepatocyte nuclear factor-1beta nephropathy. Within the last years, genetic efforts have brought tremendous progress for the molecular understanding of hereditary cystic kidney diseases identifying more than 70 genes. Yet, genetic heterogeneity, phenotypic variability, a lack of reliable genotype-phenotype correlations and the absence of disease-specific biomarkers remain major challenges for physicians treating children with cystic kidney diseases. To tackle these challenges comprehensive scientific approaches are urgently needed that match the ongoing "revolution" in genetics and molecular biology with an improved efficacy of clinical data collection. Network for early onset cystic kidney diseases (NEOCYST) is a multidisciplinary, multicenter collaborative combining a detailed collection of clinical data with translational scientific approaches addressing the genetic, molecular, and functional background of hereditary cystic kidney diseases. Consisting of seven work packages, including an international registry as well as a biobank, NEOCYST is not only dedicated to current scientific questions, but also provides a platform for longitudinal clinical surveillance and provides precious sources for high-quality research projects and future clinical trials. Funded by the German Federal Government, the NEOCYST collaborative started in February 2016. Here, we would like to introduce the rationale, design, and objectives of the network followed by a short overview on the current state of progress.

  11. Network for Early Onset Cystic Kidney Diseases—A Comprehensive Multidisciplinary Approach to Hereditary Cystic Kidney Diseases in Childhood

    Directory of Open Access Journals (Sweden)

    Jens Christian König

    2018-02-01

    Full Text Available Hereditary cystic kidney diseases comprise a complex group of genetic disorders representing one of the most common causes of end-stage renal failure in childhood. The main representatives are autosomal recessive polycystic kidney disease, nephronophthisis, Bardet–Biedl syndrome, and hepatocyte nuclear factor-1beta nephropathy. Within the last years, genetic efforts have brought tremendous progress for the molecular understanding of hereditary cystic kidney diseases identifying more than 70 genes. Yet, genetic heterogeneity, phenotypic variability, a lack of reliable genotype–phenotype correlations and the absence of disease-specific biomarkers remain major challenges for physicians treating children with cystic kidney diseases. To tackle these challenges comprehensive scientific approaches are urgently needed that match the ongoing “revolution” in genetics and molecular biology with an improved efficacy of clinical data collection. Network for early onset cystic kidney diseases (NEOCYST is a multidisciplinary, multicenter collaborative combining a detailed collection of clinical data with translational scientific approaches addressing the genetic, molecular, and functional background of hereditary cystic kidney diseases. Consisting of seven work packages, including an international registry as well as a biobank, NEOCYST is not only dedicated to current scientific questions, but also provides a platform for longitudinal clinical surveillance and provides precious sources for high-quality research projects and future clinical trials. Funded by the German Federal Government, the NEOCYST collaborative started in February 2016. Here, we would like to introduce the rationale, design, and objectives of the network followed by a short overview on the current state of progress.

  12. Frequency of known mutations in early onset PD; implication for genetic counseling: the CORE-PD study

    Science.gov (United States)

    Alcalay, RN; Caccappolo, E; Mejia-Santana, H; Tang, M-X; Rosado, L; Ross, B; Verbitsky, M; Kisselev, S; Louis, ED; Comella, C; Colcher, A; Jennings, D; Nance, M; Bressman, S; Scott, WK; Tanner, C; Mickel, S; Andrews, H; Waters, C; Fahn, S; Cote, L; Frucht, S; Ford, B; Rezak, M; Novak, K; Friedman, JH; Pfeiffer, R; Marsh, L; Hiner, B; Siderowf, A; Ottman, R; Marder, K; Clark, LN

    2012-01-01

    Objective To assess the frequency and clinical characteristics of carriers of previously identified mutations in six genes associated with early onset Parkinson disease (EOPD) and provide empirical data that can be used to inform genetic counseling. Methods Mutations in SNCA, PRKN, PINK1, DJ1, LRRK2 and GBA were assessed in 953 individuals with EOPD ascertained based on age at onset (AAO) ≤50 years. Participants included 77 Hispanics and 139 of Jewish ancestry. A validated family history interview and the Unified Parkinson’s Disease Rating Scale (UPDRS) were administered. Demographic and phenotypic characteristics were compared among groups defined by mutation status. Results One hundred and fifty eight (16.6%) had mutations including 64 (6.7%) PRKN, 35 (3.6%) LRRK2 G2019S, 64 (6.7%) GBA and one (0.2%) DJ1. Mutation carriers were more frequent among cases with AAO ≤30 than among cases with AAO between 31 and 50 (40.6% vs. 14.6% pJews compared to non-Jews (32.4% vs. 13.7% pgenetic counseling. PMID:20837857

  13. Alcohol use in motion pictures and its relation with early-onset teen drinking.

    Science.gov (United States)

    Sargent, James D; Wills, Thomas A; Stoolmiller, Mike; Gibson, Jennifer; Gibbons, Frederick X

    2006-01-01

    Little is known about the impact of viewing depictions of alcohol in entertainment media on adolescent drinking behavior. Our aims were to assess drinking in a sample of popular contemporary movies and to examine the association of movie alcohol exposure with early-onset drinking in an adolescent sample. We conducted a school-based cross-sectional survey (N=4655) with longitudinal follow-up of never-drinkers (N=2406) involving adolescents ages 10-14 years and recruited from 15 New Hampshire and Vermont schools. Screen depictions of alcohol use were timed for each of 601 popular contemporary movies. Each adolescent was asked if he/she had seen a unique list of 50 movie titles, randomly selected from the larger pool. Movie alcohol use was summed for movies the adolescent had seen, adjusted to reflect exposure to the larger pool and modeled as a continuous variable. Ninety-two percent of the movies in the sample depicted drinking; median screen time for movie alcohol use was 2.5 minutes (interquartile range [IQR]: 0.9-5.0 minutes). Median exposure to movie alcohol use from the 601 movies was 8.6 hours (IQR: 4.6-13.5 hours). Overall 23.1% of the cross-sectional sample had tried alcohol, and 14.8% of initial nondrinkers had tried alcohol at the follow-up assessment. We found statistical evidence to support a curvilinear association between higher exposure to movie alcohol use and increased risk of prevalent and incident alcohol use, with a statistically significant linear and quadratic effect, and suggesting a higher dose-effect relationship at lower movie alcohol exposure levels compared to higher levels. The linear and the quadratic associations remained strong and significant in cross-sectional and prospective models after controlling for sociodemographics (grade in school, school, gender, parent education), personality characteristics of the adolescent (sensation seeking, rebelliousness, self-esteem), school performance, parenting style, and smoking experimentation

  14. Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters.

    Science.gov (United States)

    Arnadottir, Gudny A; Jensson, Brynjar O; Marelsson, Sigurdur E; Sulem, Gerald; Oddsson, Asmundur; Kristjansson, Ragnar P; Benonisdottir, Stefania; Gudjonsson, Sigurjon A; Masson, Gisli; Thorisson, Gudmundur A; Saemundsdottir, Jona; Magnusson, Olafur Th; Jonasdottir, Adalbjorg; Jonasdottir, Aslaug; Sigurdsson, Asgeir; Gudbjartsson, Daniel F; Thorsteinsdottir, Unnur; Arngrimsson, Reynir; Sulem, Patrick; Stefansson, Kari

    2017-10-02

    Epileptic encephalopathies are a group of childhood epilepsies that display high phenotypic and genetic heterogeneity. The recent, extensive use of next-generation sequencing has identified a large number of genes in epileptic encephalopathies, including UBA5 in which biallelic mutations were first described as pathogenic in 2016 (Colin E et al., Am J Hum Genet 99(3):695-703, 2016. Muona M et al., Am J Hum Genet 99(3):683-694, 2016). UBA5 encodes an activating enzyme for a post-translational modification mechanism known as ufmylation, and is the first gene from the ufmylation pathway that is linked to disease. We sequenced the genomes of two sisters with early-onset epileptic encephalopathy along with their unaffected parents in an attempt to find a genetic cause for their condition. The sisters, born in 2004 and 2006, presented with infantile spasms at six months of age, which later progressed to recurrent, treatment-resistant seizures. We detected a compound heterozygous genotype in UBA5 in the sisters, a genotype not seen elsewhere in an Icelandic reference set of 30,067 individuals nor in public databases. One of the mutations, c.684G > A, is a paternally inherited exonic splicing mutation, occuring at the last nucleotide of exon 7 of UBA5. The mutation is predicted to disrupt the splice site, resulting in loss-of-function of one allele of UBA5. The second mutation is a maternally inherited missense mutation, p.Ala371Thr, previously reported as pathogenic when in compound heterozygosity with a loss-of-function mutation in UBA5 and is believed to produce a hypomorphic allele. Supportive of this, we have identified three adult Icelanders homozygous for the p.Ala371Thr mutation who show no signs of neurological disease. We describe compound heterozygous mutations in the UBA5 gene in two sisters with early-onset epileptic encephalopathy. To our knowledge, this is the first description of mutations in UBA5 since the initial discovery that pathogenic biallelic

  15. Early- versus Late-Onset Alzheimer Disease: Long-Term Functional Outcomes, Nursing Home Placement, and Risk Factors for Rate of Progression

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    Carina Wattmo

    2017-05-01

    Full Text Available Background/Aims: Whether age at onset influences functional deterioration in Alzheimer disease (AD is unclear. We, therefore, investigated risk factors for progression in activities of daily living (ADL and nursing home placement (NHP in cholinesterase inhibitor (ChEI-treated patients with early-onset AD (EOAD versus late-onset AD (LOAD. Methods: This 3-year, prospective, observational, multicenter study included 1,017 participants with mild-to-moderate AD; 143 had EOAD (onset <65 years and 874 LOAD (onset ≥65 years. Possible sociodemographic and clinical factors that could affect functional outcome and NHP were analyzed using mixed-effects models and logistic regression, respectively. Results: Younger individuals exhibited longer illness duration before AD diagnosis, whereas 6-month functional response to ChEI therapy, 3-year changes in ADL capacities, time from diagnosis to NHP, and survival time in nursing homes were similar between the groups. In LOAD, a higher ChEI dose, no antidepressant use, and lower education level were protective factors for slower instrumental ADL (IADL decline. In EOAD, antihypertensives/cardiac therapy implied faster IADL progression but lower risk of NHP. Conclusion: This study highlights the clinical importance of an earlier diagnosis and treatment initiation and the need for functional evaluations in EOAD. Despite the age differences between EOAD and LOAD, a similar need for nursing homes was observed.

  16. "Electro-clinical syndromes" with onset in paediatric age: the highlights of the clinical-EEG, genetic and therapeutic advances

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    Parisi Pasquale

    2011-12-01

    Full Text Available Abstract The genetic causes underlying epilepsy remain largely unknown, and the impact of available genetic data on the nosology of epilepsy is still limited. Thus, at present, classification of epileptic disorders should be mainly based on electroclinical features. Electro-clinical syndrome is a term used to identify a group of clinical entities showing a cluster of electro-clinical characteristics, with signs and symptoms that together define a distinctive, recognizable, clinical disorder. These often become the focus of treatment trials as well as of genetic, neuropsychological, and neuroimaging investigations. They are distinctive disorders identifiable on the basis of a typical age onset, specific EEG characteristics, seizure types, and often other features which, when taken together, permit a specific diagnosis which, in turn, often has implications for treatment, management, and prognosis. Each electro-clinical syndrome can be classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep. Therefore, according to the age at onset, here we review the more frequently observed paediatric electro-clinical syndrome from their clinical-EEG, genetic and therapeutic point of views.

  17. Early lessons from the recent-onset rheumatoid arthritis cohort ESPOIR.

    Science.gov (United States)

    Combe, Bernard; Rincheval, Nathalie

    2015-01-01

    ESPOIR is a French multicenter cohort of patients with undifferentiated arthritis enrolled within six months of symptom onset, naive to disease-modifying antirheumatic drugs and corticosteroid therapy, and either having rheumatoid arthritis (RA) or being at risk for progression to RA. The cohort is sponsored by the French Society for Rheumatology (Société française de rhumatologie [SFR]). Between December 2002 and March 2005, 813 patients were enrolled at 14 regional university hospitals, with the participation of a network of community-based rheumatologists. The objective was to establish a database on recent-onset inflammatory joint disease and, more specifically, on RA to serve for scientific research in the clinical, epidemiological, pathophysiological, and healthcare-cost fields. Ten years after enrolment were started, the cohort still has about 500 patients. The scientific committee has approved 104 clinical research projects, of which many are ongoing, and 54 original articles written by numerous French and international groups have been published. These projects cover a vast spectrum of topics including environmental factors, diagnosis, outcomes, prognosis, disease evaluation, imaging, genetics, biomarkers, costs, and RA management strategies. Copyright © 2014 Société française de rhumatologie. Published by Elsevier SAS. All rights reserved.

  18. Significant adverse reactions to long-acting gonadotropin-releasing hormone agonists for the treatment of central precocious puberty and early onset puberty

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    Ji Woo Lee

    2014-09-01

    Full Text Available PurposeLong-acting gonadotropin-releasing hormone agonists (GnRHa are commonly used to treat central precocious puberty (CPP in Korea. Although rare, there have been reports on the characteristic of adverse reactions of GnRHa in CPP among the Korean population. This study was intended to report on our clinical experience regarding significant adverse reactions to long-acting GnRHa in CPP and early onset puberty and to evaluate the prevalence rate of serious side effects.MethodsThis retrospective study included children with CPP and early onset puberty, who were administered monthly with long-acting GnRHa (leuprolide acetate, triptorelin acetate at the outpatient clinic of Department of Pediatrics, at Inha University Hospital, between January 2011 and December 2013. We analyzed the clinical characteristics of patients who experienced significant adverse reactions and evaluated the prevalence rate.ResultsSix serious side effects (0.9% were observed among total of 621 CPP and early onset puberty children with GnRHa therapy. The number of sterile abscess formation was four in three patients (4 events of 621. Anaphylaxis occurred in only one patient, and unilateral slipped capital femoral epiphysis (SCFE in another one patient. Anaphylaxis occurred after the 6th administration of the monthly depot triptorelin acetate. Unilateral SCFE developed in GnRHa therapy.ConclusionSterile abscess formation occurred in 0.6% of CPP and early onset puberty patients from the administration of a monthly depot GnRHa therapy. The occurrences of anaphylaxis and SCFE are extremely rare, but can have serious implications on patients. Clinicians should be aware of these potential adverse effects related to GnRHa therapy in CPP.

  19. Age of onset influences on clinical and laboratory profile of patients with systemic lupus erythematosus.

    Science.gov (United States)

    Sassi, Rafael Hennemann; Hendler, Jordana Vaz; Piccoli, Giovana Fagundes; Gasparin, Andrese Aline; da Silva Chakr, Rafael Mendonça; Brenol, João Carlos Tavares; Monticielo, Odirlei André

    2017-01-01

    The present study aims to evaluate differences in clinical and laboratory manifestations and medication use in the different ages of disease onset in patients with systemic lupus erythematosus (SLE). This cross-sectional study consisted of 598 SLE patients (550 female and 48 male), who attended the Rheumatology Clinic of the Hospital de Clínicas de Porto Alegre between 2003 and 2015. Demographic, clinical and laboratory data were collected. The patients were classified into three groups according to their ages at disease diagnosis. Mean age of diagnosis was 33.6 ± 14.3 years, and the median (25th-75th percentile) disease duration was 13 (7-20) years. Among the patients studied, 419 (70%) were adult-onset (aSLE), 90 (14.8%) were late-onset (lSLE) and 89 (14.8%) were childhood-onset (cSLE). The female to male ratio was higher in aSLE (18:1) compared to the other groups (p = 0.001). Arthritis was predominantly found in aSLE (78.5%) when compared with lSLE (57.7%) (p Nephritis was more common in cSLE (60.6%) than in lSLE (26.6%) (p nephritis and needed a more aggressive treatment with immunosuppressive drugs.

  20. Maintaining intestinal health: the genetics and immunology of very early onset inflammatory bowel disease.

    Science.gov (United States)

    Kelsen, Judith R; Baldassano, Robert N; Artis, David; Sonnenberg, Gregory F

    2015-09-01

    Inflammatory bowel disease (IBD) is a multifactoral disease caused by dysregulated immune responses to commensal or pathogenic microbes in the intestine, resulting in chronic intestinal inflammation. An emerging population of patients with IBD occurring before the age of 5 represent a unique form of disease, termed Very Early Onset (VEO)-IBD, which is phenotypically- and genetically-distinct from older-onset IBD. VEO-IBD is associated with increased disease severity, aggressive progression and poor responsiveness to most conventional therapies. Further investigation into the causes and pathogenesis of VEO-IBD will help improve treatment strategies, and may lead to a better understanding of the mechanisms that are essential to maintain intestinal health or provoke the development of targeted therapeutic strategies to limit intestinal disease. Here we discuss the phenotypic nature of VEO-IBD, the recent identification of novel gene variants associated with disease, and functional immunologic studies interrogating the contribution of specific genetic variants to the development of chronic intestinal inflammation.

  1. FARS2 mutation and epilepsy: Possible link with early-onset epileptic encephalopathy.

    Science.gov (United States)

    Cho, Jae So; Kim, Seung Hyo; Kim, Ha Young; Chung, Taesu; Kim, Dongsup; Jang, Sesong; Lee, Seung Bok; Yoo, Seung Keun; Shin, Jongyeon; Kim, Jong-Il; Kim, Hunmin; Hwang, Hee; Chae, Jong-Hee; Choi, Jieun; Kim, Ki Joong; Lim, Byung Chan

    2017-01-01

    Early-onset epileptic encephalopathy (EOEE) consists of a heterogeneous group of epilepsy phenotypes. Recent technological advances in molecular biology have also rapidly expanded the genotype of EOEE. Genes involved in diverse molecular pathways, including ion channels, synaptic structure, transcription regulation, and cellular growth, have been implicated in EOEE. Mitochondrial aminoacyl tRNA synthetase, which plays a key role in mitochondrial protein synthesis by attaching 20 different amino acids to the tRNA tail, has been recently linked with the epilepsy phenotype. Here, we report a novel homozygous c.925G>A (G309S) missense mutation in the gene that encodes the human mitochondrial phenylalanyl-tRNA synthetase (FARS2) in four patients from two nonconsanguineous Korean families. All four patients suffered from intractable seizures that started at the age of 3 and 4 months. Seizure types were variable, including infantile spasms and myoclonic seizures, and often prolonged. Although their initial development seemed to be normal, relentless regression after seizure onset occurred in all patients. An etiologic investigation, including brain imaging and metabolic studies, did not reveal a specific etiology. We reviewed the epilepsy phenotypes of six additional FARS2 mutation-positive patients and suggest that FARS2 can be considered one of the genetic causes of EOEE. Copyright © 2016 Elsevier B.V. All rights reserved.

  2. Early-onset behavioral and neurochemical deficits in the genetic mouse model of phenylketonuria.

    Science.gov (United States)

    Fiori, Elena; Oddi, Diego; Ventura, Rossella; Colamartino, Marco; Valzania, Alessandro; D'Amato, Francesca Romana; Bruinenberg, Vibeke; van der Zee, Eddy; Puglisi-Allegra, Stefano; Pascucci, Tiziana

    2017-01-01

    Phenylketonuria (PKU) is one of the most common human inborn errors of metabolism, caused by phenylalanine hydroxylase deficiency, leading to high phenylalanine and low tyrosine levels in blood and brain causing profound cognitive disability, if untreated. Since 1960, population is screened for hyperphenylalaninemia shortly after birth and submitted to early treatment in order to prevent the major manifestations of the disease. However, the dietetic regimen (phenylalanine free diet) is difficult to maintain, and despite the recommendation to a strict and lifelong compliance, up to 60% of adolescents partially or totally abandons the treatment. The development and the study of new treatments continue to be sought, taking advantage of preclinical models, the most used of which is the PAHenu2 (BTBR ENU2), the genetic murine model of PKU. To date, adult behavioral and neurochemical alterations have been mainly investigated in ENU2 mice, whereas there are no clear indications about the onset of these deficiencies. Here we investigated and report, for the first time, a comprehensive behavioral and neurochemical assay of the developing ENU2 mice. Overall, our findings demonstrate that ENU2 mice are significantly smaller than WT until pnd 24, present a significant delay in the acquisition of tested developmental reflexes, impaired communicative, motor and social skills, and have early reduced biogenic amine levels in several brain areas. Our results extend the understanding of behavioral and cerebral abnormalities in PKU mice, providing instruments to an early preclinical evaluation of the effects of new treatments.

  3. Peer and teacher effects on the early onset of sexual intercourse.

    Science.gov (United States)

    Brendgen, Mara; Wanner, Brigitte; Vitaro, Frank

    2007-11-01

    We examined the links between peer rejection and verbal abuse by a teacher during childhood with the early onset of sexual intercourse and the mediating role of delinquent behavior and low self-esteem in this context. We assessed 312 students (159 girls) in northwestern Quebec annually from kindergarten through seventh grade. Peer identifications were used to assess peer rejection and verbal abuse by teachers from kindergarten through fourth grade. In seventh grade, self-reports were used to assess delinquent behavior, self-esteem, and having sexual intercourse. Multiple sources were used to assess control variables. Multiple imputation-based linear and logistic regressions showed that peer rejection was indirectly associated with a higher risk of early intercourse by its link with lower self-esteem, but only for girls. Verbal abuse by teachers during childhood was directly associated with a higher risk of early sexual intercourse and indirectly by its link with delinquent behavior. The results underline the importance of both peers and teachers in healthy sexual development among youths, especially for girls, and emphasize the need for targeted health and sexual education programs.

  4. Early-onset behavioral and neurochemical deficits in the genetic mouse model of phenylketonuria.

    Directory of Open Access Journals (Sweden)

    Elena Fiori

    Full Text Available Phenylketonuria (PKU is one of the most common human inborn errors of metabolism, caused by phenylalanine hydroxylase deficiency, leading to high phenylalanine and low tyrosine levels in blood and brain causing profound cognitive disability, if untreated. Since 1960, population is screened for hyperphenylalaninemia shortly after birth and submitted to early treatment in order to prevent the major manifestations of the disease. However, the dietetic regimen (phenylalanine free diet is difficult to maintain, and despite the recommendation to a strict and lifelong compliance, up to 60% of adolescents partially or totally abandons the treatment. The development and the study of new treatments continue to be sought, taking advantage of preclinical models, the most used of which is the PAHenu2 (BTBR ENU2, the genetic murine model of PKU. To date, adult behavioral and neurochemical alterations have been mainly investigated in ENU2 mice, whereas there are no clear indications about the onset of these deficiencies. Here we investigated and report, for the first time, a comprehensive behavioral and neurochemical assay of the developing ENU2 mice. Overall, our findings demonstrate that ENU2 mice are significantly smaller than WT until pnd 24, present a significant delay in the acquisition of tested developmental reflexes, impaired communicative, motor and social skills, and have early reduced biogenic amine levels in several brain areas. Our results extend the understanding of behavioral and cerebral abnormalities in PKU mice, providing instruments to an early preclinical evaluation of the effects of new treatments.

  5. Novel CDKL5 Mutations in Czech Patients with Phenotypes of Atypical Rett Syndrome and Early-Onset Epileptic Encephalopathy.

    Science.gov (United States)

    Záhoráková, D; Langová, M; Brožová, K; Laštůvková, J; Kalina, Z; Rennerová, L; Martásek, P

    2016-01-01

    The X-linked CDKL5 gene, which encodes cyclin-dependent kinase-like 5 protein, has been implicated in early-onset encephalopathy and atypical Rett syndrome with early-onset seizures. The CDKL5 protein is a kinase required for neuronal development and morphogenesis, but its precise functions are still largely unexplored. Individuals with CDKL5 mutations present with severe global developmental delay, intractable epilepsy, and Rett-like features. A clear genotype-phenotype correlation has not been established due to an insufficient number of reported cases. The aim of this study was to analyse the CDKL5 gene in Czech patients with early-onset seizures and Rett-like features. We performed mutation screening in a cohort of 83 individuals using high-resolution melting analysis, DNA sequencing and multiplex ligation- dependent probe amplification. Molecular analyses revealed heterozygous pathogenic mutations in three girls with severe intellectual disability and intractable epilepsy starting at the age of two months. All three identified mutations, c.637G>A, c.902_977+29del105, and c.1757_1758delCT, are novel, thus significantly extending the growing spectrum of known pathogenic CDKL5 sequence variants. Our results support the importance of genetic testing of the CDKL5 gene in patients with early-onset epileptic encephalopathy and Rett-like features with early-onset seizures. This is the first study referring to molecular defects of CDKL5 in Czech cases.

  6. Ultrasound control of magnet growing rod distraction in early onset scoliosis.

    Science.gov (United States)

    Pérez Cervera, T; Lirola Criado, J F; Farrington Rueda, D M

    2016-01-01

    The growing rod technique is currently one of the most common procedures used in the management of early onset scoliosis. However, in order to preserve spine growth and control the deformity it requires frequent surgeries to distract the rods. Magnetically driven growing rods have recently been introduced with same treatment goal, but without the inconvenience of repeated surgical distractions. One of the limitations of this technical advance is an increase in radiation exposure due to the increase in distraction frequency compared to conventional growing rods. An improvement of the original technique is presented, proposing a solution to the inconvenience of multiple radiation exposure using ultrasound technology to control the distraction process of magnetically driven growing rods. Copyright © 2014 SECOT. Publicado por Elsevier España, S.L.U. All rights reserved.

  7. Design of a Dynamic Spinal Implant for the treatment of Early Onset Scoliosis

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    Gonzalez Alvarez, A.; Shepherd, D.; Dearn, K.

    2016-07-01

    GSDyn (Growing Spine Dynamic) is a novel implant that has been designed and manufactured to mechanically correct three dimensional spinal deformities in children with Early Onset Scoliosis (EOS). The innovative element of the implant is the lengthening mechanism that allows the elongation surgeries to be easier, faster and less invasive procedures than with other mechanical implants on the market, as they can be performed under local anaesthetics and with a surgical incision of less than one centimetre. It also includes a dynamic system to prevent implant breakage and anchor loosening, two of the most common complications occurring in this treatment. The development of the implant has been guided by spinal surgeons. Finite Element Analysis has been performed to evaluate the behaviour of the device under different loading conditions and two working prototypes have been successfully manufactured. (Author)

  8. A Comparative Descriptive Study of Characteristics of Early- and Late-Onset Dementia Family Caregivers.

    Science.gov (United States)

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

    2016-02-01

    Characteristics of early- and late-onset dementia family caregivers were described and compared. Based on a theoretical model of role transition, data were collected through structured interviews from 48 caregivers of adults with Alzheimer's disease or a related dementia older than the age of 70 and 48 caregivers of similarly diagnosed adults younger than the age of 60. A significantly higher proportion of caregivers of younger adults were spouses and gainfully employed compared with those of older adults; they had more years of schooling, took care of a person with more severe impairments, received more help, perceived themselves as better prepared to deal with future needs, and better informed about services. They did not differ from caregivers of older adults in terms of psychological distress, role confidence, self-efficacy, and social support. This study highlights differences and similarities to be considered in the development of services tailored to the specific needs of each group. © The Author(s) 2015.

  9. Screening of KCNN3 in patients with early-onset lone atrial fibrillation

    DEFF Research Database (Denmark)

    Olesen, Morten Sig; Jabbari, Javad; Holst, Anders G

    2011-01-01

    Aims The aim of this study was to screen KCNN3 encoding the small-conductance calcium-activated K(+) channel (SK3) in lone atrial fibrillation patients. Atrial fibrillation (AF) is the most common cardiac arrhythmia. A genome-wide association study has recently associated an intronic single......-nucleotide polymorphism (SNP) in KCNN3 with lone AF. Methods and results We sequenced the coding region and splice junctions of KCNN3 in 209 early-onset lone AF patients, screening for variations. A group of 208 healthy blood donors with normal ECGs and without cardiac symptoms were used as controls. All patients...... and controls were of Danish ethnicity. No mutations were found in the coding regions or splice sites of KCNN3. We found one known exonic synonymous SNP (rs1131820) in KCNN3 that was associated with AF. Both the genotype distribution and allele frequencies of SNP rs1131820 were significantly different between...

  10. Ethical Considerations for Deep Brain Stimulation Trials in Patients with Early-Onset Alzheimer's Disease.

    Science.gov (United States)

    Viaña, John Noel M; Bittlinger, Merlin; Gilbert, Frederic

    2017-01-01

    Several studies of deep brain stimulation (DBS) of the fornix or the nucleus basalis of Meynert have been recently conducted in people with Alzheimer's disease, with several recruiting participants early-onset Alzheimer's disease (EOAD). Although EOAD accounts for less than 5.5% of AD cases, ethical considerations must still be made when performing DBS trials including these participants since a portion of people with EOAD, especially those possessing autosomal-dominant mutations, have an atypical and more aggressive disease progression. These considerations include appropriate patient selection and signing of an informed consent for genetic testing; appropriate study design; potential outcomes that people with EOAD could expect; and accurate interpretation and balanced discussion of trial results. Finally, recommendations for future DBS for AD trials will be made to ensure that EOAD patients will not experience avoidable harms should they be enrolled in these experimental studies.

  11. Exploring the service and support needs of families with early-onset Alzheimer's disease.

    Science.gov (United States)

    Gibson, Allison K; Anderson, Keith A; Acocks, Sara

    2014-11-01

    Although often cast as a disease of later life, a growing number of people are being diagnosed with Alzheimer's disease in their 50s and 60s. Early-onset Alzheimer's disease (EOAD) poses special challenges and needs for individuals and their caregivers, such as employment and access to services. In this cross-sectional study, the researchers surveyed 81 (N = 81) family caregivers to individuals with EOAD to identify service and support usage and need. Descriptive analyses revealed that families utilized a range of formal services (eg, adult day) and informal support from family and friends. In terms of challenges and needs, participants indicated that they struggled most with employment, benefits, and financial issues. Although most caregivers felt that they were coping well, they also indicated that their needs were not well understood by service providers and the public. These findings highlight the need to better understand and respond to the specific issues surrounding EOAD. © The Author(s) 2014.

  12. [Identifying different susceptibility loci associated with early onset diabetes and cardiovascular disease in Mexican families].

    Science.gov (United States)

    Canizales-Quinteros, Samuel; Huertas-Vázquez, Adriana; Riba-Ramírez, Laura; Monroy-Guzmán, Adriana; Domínguez-López, Aarón; Romero-Hidalgo, Sandra; Aguilar-Salinas, Carlos; Rodríguez-Torres, Maribel; Ramírez-Jiménez, Salvador; Tusié-Luna, María Teresa

    2005-01-01

    Coronary artery disease and diabetes mellitus are among the primary mortality and morbidity causes in Mexico. Genetic factors play a fundamental role in the development of these entities. In the past few years due to the recognition and study of families with monogenic forms of diabetes and dislipidemias associated with development of atherosclerosis, several genes and loci have been associated with these conditions through genetic linkage studies. These studies have provided evidence of the genetic heterogeneity that exists and the type of genes involved in different ethnic groups. The study of Mexican families with early-onset diabetes and combined familial hyperlipidemia showed the participation of different genetic loci associated with these conditions in the Mexican population. These findings show the value of gene mapping strategies in the identification of the genetic component in these entities in our population.

  13. Impact of neonatal early-onset sepsis calculator on antibiotic use within two tertiary healthcare centers.

    Science.gov (United States)

    Warren, S; Garcia, M; Hankins, C

    2017-04-01

    A recently described neonatal early-onset sepsis (EOS) calculator has the potential to reduce newborn antibiotic exposure but real world data from its use remains sparse. The objective of this study was to determine the impact of applying the calculator to infants treated for EOS. Retrospective review of infants ⩾34 weeks gestational age who received antibiotics at birth. Subjects were compared according to Centers for Disease Control (CDC) 2010 guideline criteria versus the Kaiser Permanente neonatal EOS calculator recommendations. Of 205 patients, the EOS calculator recommended empiric antibiotics for 23% of those who received therapy, compared with 92% per CDC guidelines (Pcalculator may dramatically reduce the number of infants who require antibiotics at birth, leading to reduced need for laboratory monitoring and improved antimicrobial stewardship. More safety data is needed.

  14. Combined targeted treatment in early onset epilepsy associated with tuberous sclerosis

    Directory of Open Access Journals (Sweden)

    Romina Moavero

    2016-01-01

    Full Text Available Tuberous sclerosis is associated with epilepsy in up to 85% of cases, and in 2/3, the onset is within the first year of life. An early antiepileptic treatment is crucial to minimize the consequences of epilepsy on cognition and behavior. We present a case report of a child with tuberous sclerosis who presented with infantile spasms at the age of 6 months, immediately treated with vigabatrin. Because of the presence of a subependymal giant cell astrocytoma, he also received everolimus since 18 months of age. We might wonder if an earlier treatment could have produced a better outcome; in fact, despite a targeted combined treatment, he continues to suffer from sporadic focal motor seizures, and at the age of 40 months, he presents severe developmental delay with autism-like behavior.

  15. A systematic review and meta-analysis of cutaneous manifestations in late- versus early-onset systemic lupus erythematosus.

    Science.gov (United States)

    Medlin, Jennifer L; Hansen, Karen E; Fitz, Sara R; Bartels, Christie M

    2016-06-01

    Although systemic lupus erythematosus (SLE) most commonly occurs in reproductive-age women, some are diagnosed after the age of 50. Recognizing that greater than one-third of SLE criteria are cutaneous, we undertook a systematic review and meta-analysis to evaluate differences in cutaneous manifestations in early- and late-onset SLE patients. We searched the literature using PubMed, CINAHL, Web of Science, and Cochrane Library. We excluded studies that did not include ACR SLE classification criteria, early-onset controls, that defined late-onset SLE as manifestations by age. Study heterogeneity was assessed using I(2). Overall, 35 studies, representing 11,189 early-onset and 1727 late-onset patients with SLE, met eligibility criteria. The female:male ratio was lower in the late-onset group (5:1 versus 8:1). Most cutaneous manifestations were less prevalent in the late-onset group. In particular, malar rash [OR = 0.43 (0.35, 0.52)], photosensitivity [OR = 0.72 (0.59, 0.88)], and livedo reticularis [OR = 0.33 (0.17, 0.64)] were less common in late-onset patients. In contrast, sicca symptoms were more common [OR = 2.45 (1.91, 3.14)]. The mean Newcastle Ottawa Quality Scale score was 6.3 ± 0.5 (scale: 0-9) with high inter-rater reliability for the score (0.96). Overall, cutaneous manifestations are less common in late-onset SLE patients, except sicca symptoms. Future studies should investigate etiologies for this phenomenon including roles of immune senescence, environment, gender, and immunogenetics. Copyright © 2016 Elsevier Inc. All rights reserved.

  16. Omega-3 fatty acids and the genetic risk of early onset acute coronary syndrome.

    Science.gov (United States)

    Leung Yinko, S S L; Thanassoulis, G; Stark, K D; Avgil Tsadok, M; Engert, J C; Pilote, L

    2014-11-01

    Recent gene-environment interaction studies suggest that diet may influence an individual's genetic predisposition to cardiovascular risk. We evaluated whether omega-3 fatty acid intake may influence the risk for acute coronary syndrome (ACS) conferred by genetic polymorphisms among patients with early onset ACS. Our population consisted of 705 patients of white European descent enrolled in GENESIS-PRAXY, a multicenter cohort study of patients aged 18-55 years and hospitalized with ACS. We used a case-only design to investigate interactions between the omega-3 index (a validated biomarker of omega-3 fatty acid intake) and 30 single nucleotide polymorphisms (SNPs) robustly associated with ACS. We used logistic regression to assess the interaction between each SNP and the omega-3 index. Interaction was also assessed between the omega-3 index and a genetic risk score generated from the 30 SNPs. All models were adjusted for age and sex. An interaction for increased ACS risk was found between carriers of the chromosome 9p21 variant rs4977574 and low omega-3 index (OR 1.57, 95% CI 1.07-2.32, p = 0.02), but this was not significant after correction for multiple testing. Similar results were obtained in the adjusted model (OR 1.55, 95% CI 1.05-2.29, p = 0.03). We did not observe any interaction between the genetic risk score or any of the other SNPs and the omega-3 index. Our results suggest that omega-3 fatty acid intake may modify the genetic risk conferred by chromosome 9p21 variation in the development of early onset ACS and requires independent replication. Copyright © 2014 Elsevier B.V. All rights reserved.

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

    Science.gov (United States)

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

    2013-10-01

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

  18. Retrospective, Single Center Study of Clinical, Paraclinical and Natural Course of Infantile-Onset Pompe Disease

    Directory of Open Access Journals (Sweden)

    Noormohammad Noori

    2015-01-01

    Full Text Available Background: Infantile-onset Pompe disease is a rare genetic and lethal disorder which is caused by the lack of acid alpha-glucosidase activity (GAA. The aim of our study was to identify the demographic and clinical characteristics, and natural history of these patients. Materials and Methods: In this retrospective study, clinical file of 15 patients diagnosed with infantile-onset Pompe disease whose symptoms started before the age of 12 months were studied. Diagnosis was based on clinical history, physical examination and diagnostic parameters in chest X-ray, echocardiogram, electrocardiogram and biochemical tests after rule out the other metabolic and neuromuscular disorders. Results: Sixty percent of the patients were male and 40% were female. The mean age at the onset of symptoms was 78 days (range: 3-150 days. Most frequent clinical and paraclinical symptoms were cardiomegaly, hypotonia, hyporeflexia, macroglossia, failure to thrive, hepatomegaly, and feeding problems, respectively. The mean age at the time of death was 5.96 months (range: 4-8 months, and all patients died before one year of age. Muscle enzymes including AST, ALT, LDH, and CPK were elevated in all patients. Due to the lack of availability, enzyme replacement therapy was not possible for any patient. Conclusion: The study showed that despite the supportive measures and no specific treatment, the clinical course is not significantly different with similar studies and the overall prognosis of this form of disease is very poor and disappointing.

  19. Does early onset of criminal behavior differentiate for whom serious mental illness has a direct or indirect effect on recidivism?

    Science.gov (United States)

    Matejkowski, Jason; Conrad, Aaron; Ostermann, Michael

    2017-02-01

    The involvement of people with serious mental illness (SMI) with the justice system may be a direct result of their disruptive/unsafe expression of psychiatric symptoms being responded to by law enforcement. SMI may also indirectly contribute to justice involvement, through exposure to environmental and social learning processes that place people with SMI at risk for criminal behavior. This study addresses the question: For whom does SMI directly or indirectly relate to criminal behavior? Mediation and conditional effects testing were used to examine the potential of early onset of criminal behavior to distinguish those groups for whom SMI displays a direct effect or an indirect effect on criminal recidivism. This study utilized a disproportionate random sample of 379 inmates released from New Jersey Department of Corrections; 190 of whom had SMI and 189 of whom did not have SMI. Data were collected from clinical and administrative records. Results indicate that criminal risk mediated the relationship between SMI and recidivism. This indirect effect was conditioned by whether the individual had a juvenile conviction. Specifically, for early start offenders, criminal risk was positively related to recidivism while this relationship was not observed for late start offenders. Juvenile criminal onset did not condition the direct effects of SMI on recidivism. A juvenile history of criminal involvement may signal the presence of heightened criminogenic need among adults with SMI. This simple indicator could function to differentiate for clinicians those adults who are good candidates for exploring further, and targeting for amelioration, criminogenic needs to reduce further criminal involvement. (PsycINFO Database Record (c) 2017 APA, all rights reserved).

  20. Do genetic factors protect for early onset lung cancer? A case control study before the age of 50 years

    Directory of Open Access Journals (Sweden)

    Jilge Bettina

    2008-02-01

    Full Text Available Abstract Background Early onset lung cancer shows some familial aggregation, pointing to a genetic predisposition. This study was set up to investigate the role of candidate genes in the susceptibility to lung cancer patients younger than 51 years at diagnosis. Methods 246 patients with a primary, histologically or cytologically confirmed neoplasm, recruited from 2000 to 2003 in major lung clinics across Germany, were matched to 223 unrelated healthy controls. 11 single nucleotide polymorphisms of genes with reported associations to lung cancer have been genotyped. Results Genetic associations or gene-smoking interactions was found for GPX1(Pro200Leu and EPHX1(His113Tyr. Carriers of the Leu-allele of GPX1(Pro200Leu showed a significant risk reduction of OR = 0.6 (95% CI: 0.4–0.8, p = 0.002 in general and of OR = 0.3 (95% CI:0.1–0.8, p = 0.012 within heavy smokers. We could also find a risk decreasing genetic effect for His-carriers of EPHX1(His113Tyr for moderate smokers (OR = 0.2, 95% CI:0.1–0.7, p = 0.012. Considered both variants together, a monotone decrease of the OR was found for smokers (OR of 0.20; 95% CI: 0.07–0.60 for each protective allele. Conclusion Smoking is the most important risk factor for young lung cancer patients. However, this study provides some support for the T-Allel of GPX1(Pro200Leu and the C-Allele of EPHX1(His113Tyr to play a protective role in early onset lung cancer susceptibility.

  1. A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort

    Science.gov (United States)

    Rubattu, Speranza; Bozzao, Cristina; Pennacchini, Ermelinda; Pagannone, Erika; Musumeci, Beatrice Maria; Piane, Maria; Germani, Aldo; Savio, Camilla; Francia, Pietro; Volpe, Massimo; Autore, Camillo; Chessa, Luciana

    2016-01-01

    Sequencing of sarcomere protein genes in patients fulfilling the clinical diagnostic criteria for hypertrophic cardiomyopathy (HCM) identifies a disease-causing mutation in 35% to 60% of cases. Age at diagnosis and family history may increase the yield of mutations screening. In order to assess whether Next-Generation Sequencing (NGS) may fulfil the molecular diagnostic needs in HCM, we included 17 HCM-related genes in a sequencing panel run on PGM IonTorrent. We selected 70 HCM patients, 35 with early (≤25 years) and 35 with late (≥65 years) diagnosis of disease onset. All samples had a 98.6% average of target regions, with coverage higher than 20× (mean coverage 620×). We identified 41 different mutations (seven of them novel) in nine genes: MYBPC3 (17/41 = 41%); MYH7 (10/41 = 24%); TNNT2, CAV3 and MYH6 (3/41 = 7.5% each); TNNI3 (2/41 = 5%); GLA, MYL2, and MYL3 (1/41=2.5% each). Mutation detection rate was 30/35 (85.7%) in early-onset and 8/35 (22.9%) in late-onset HCM patients, respectively (p < 0.0001). The overall detection rate for patients with positive family history was 84%, and 90.5% in patients with early disease onset. In our study NGS revealed higher mutations yield in patients with early onset and with a family history of HCM. Appropriate patient selection can increase the yield of genetic testing and make diagnostic testing cost-effective. PMID:27483260

  2. Isolated visual symptoms at onset in sporadic Creutzfeldt-Jakob disease: the clinical phenotype of the “Heidenhain variant”

    Science.gov (United States)

    Cooper, S A; Murray, K L; Heath, C A; Will, R G; Knight, R S G

    2005-01-01

    Background: The Heidenhain variant of sporadic Creutzfeldt-Jakob disease (sCJD) is commonly understood to represent cases with early, prominent visual complaints. The term is clarified to represent those who present with isolated visual symptoms. This group may pose diagnostic difficulties and often present to ophthalmologists where they may undergo needless invasive procedures. Method: A retrospective review of 594 pathologically proved sCJD cases referred to the UK National CJD Surveillance Unit over a 15 year period to identify Heidenhain cases. Results: 22 cases had isolated visual symptoms at onset with a mean illness duration of 4 months. The mean age at disease onset was 67 years. Most displayed myoclonus, pyramidal signs, and a delay in the onset of dementia for some weeks. 17 (77%) were referred initially to ophthalmology. Two underwent cataract extraction before diagnosis. All tested cases were homozygous for methionine at codon 129 of the prion protein gene. Conclusions: This rare, but clinically distinct, group of patients with sCJD may cause diagnostic difficulties. Because ocular intervention carries with it the risk of onward transmission awareness of this condition among ophthalmologists is important. PMID:16170128

  3. Family history of skin cancer is associated with early-onset basal cell carcinoma independent of MC1R genotype.

    Science.gov (United States)

    Berlin, Nicholas L; Cartmel, Brenda; Leffell, David J; Bale, Allen E; Mayne, Susan T; Ferrucci, Leah M

    2015-12-01

    As a marker of genetic susceptibility and shared lifestyle characteristics, family history of cancer is often used to evaluate an individual's risk for developing a particular malignancy. With comprehensive data on pigment characteristics, lifestyle factors, and melanocortin 1 receptor (MC1R) gene sequence, we sought to clarify the role of family history of skin cancer in early-onset basal cell carcinoma (BCC). Early onset BCC cases (n=376) and controls with benign skin conditions (n=383) under age 40 were identified through Yale dermatopathology. Self-report data on family history of skin cancer (melanoma and non-melanoma skin cancer), including age of onset in relatives, was available from a structured interview. Participants also provided saliva samples for sequencing of MC1R. A family history of skin cancer was associated with an increased risk of early-onset BCC (OR 2.49, 95% CI 1.80-3.45). In multivariate models, family history remained a strong risk factor for early-onset BCC after adjustment for pigment characteristics, UV exposure, and MC1R genotype (OR 2.41, 95% CI 1.74-3.35). Risk for BCC varied based upon the type and age of onset of skin cancer among affected relatives; individuals with a first-degree relative diagnosed with skin cancer prior to age 50 were at highest risk for BCC (OR 4.79, 95% CI 2.90-7.90). Even after taking into account potential confounding effects of MC1R genotype and various lifestyle factors that close relatives may share, family history of skin cancer remained strongly associated with early-onset BCC. Copyright © 2015. Published by Elsevier Ltd.

  4. Medical decision support using machine learning for early detection of late-onset neonatal sepsis.

    Science.gov (United States)

    Mani, Subramani; Ozdas, Asli; Aliferis, Constantin; Varol, Huseyin Atakan; Chen, Qingxia; Carnevale, Randy; Chen, Yukun; Romano-Keeler, Joann; Nian, Hui; Weitkamp, Jörn-Hendrik

    2014-01-01

    The objective was to develop non-invasive predictive models for late-onset neonatal sepsis from off-the-shelf medical data and electronic medical records (EMR). The data used in this study are from 299 infants admitted to the neonatal intensive care unit in the Monroe Carell Jr. Children's Hospital at Vanderbilt and evaluated for late-onset sepsis. Gold standard diagnostic labels (sepsis negative, culture positive sepsis, culture negative/clinical sepsis) were assigned based on all the laboratory, clinical and microbiology data available in EMR. Only data that were available up to 12 h after phlebotomy for blood culture testing were used to build predictive models using machine learning (ML) algorithms. We compared sensitivity, specificity, positive predictive value and negative predictive value of sepsis treatment of physicians with the predictions of models generated by ML algorithms. The treatment sensitivity of all the nine ML algorithms and specificity of eight out of the nine ML algorithms tested exceeded that of the physician when culture-negative sepsis was included. When culture-negative sepsis was excluded both sensitivity and specificity exceeded that of the physician for all the ML algorithms. The top three predictive variables were the hematocrit or packed cell volume, chorioamnionitis and respiratory rate. Predictive models developed from off-the-shelf and EMR data using ML algorithms exceeded the treatment sensitivity and treatment specificity of clinicians. A prospective study is warranted to assess the clinical utility of the ML algorithms in improving the accuracy of antibiotic use in the management of neonatal sepsis.

  5. Do rapid BMI growth in childhood and early-onset obesity offer cardiometabolic protection to obese adults in mid-life?

    DEFF Research Database (Denmark)

    Howe, Laura D; Zimmermann, Esther; Weiss, Ram

    2014-01-01

    -onset obesity may be associated with MHO. We aimed to assess whether body mass index (BMI) in childhood and early-onset obesity are associated with MHO. SETTING: General population longitudinal cohort study, Denmark. PARTICIPANTS: From 362 200 young men (mean age 20) examined for Danish national service between......OBJECTIVE: Some obese individuals have no cardiometabolic abnormalities; they are 'metabolically healthy, but obese' (MHO). Similarly, some non-obese individuals have cardiometabolic abnormalities, that is, 'metabolically at risk, normal weight' (MANW). Previous studies have suggested that early...... 1943 and 1977, all obese men (BMI ≥31 kg/m(2), N=1930) were identified along with a random 1% sample of the others (N=3601). Our analysis includes 2392 of these men attending a research clinic in mid-life (mean age 42). For 613 of these men, data on childhood BMI are available. We summarised childhood...

  6. Ictal SPECT using an attachable automated injector: clinical usefulness in the prediction of ictal onset zone.

    Science.gov (United States)

    Lee, Jung-Ju; Lee, Sang Kun; Choi, Jang Wuk; Kim, Dong-Wook; Park, Kyung Il; Kim, Bom Sahn; Kang, Hyejin; Lee, Dong Soo; Lee, Seo-Young; Kim, Sung Hun; Chung, Chun Kee; Nam, Hyeon Woo; Kim, Kwang Ki

    2009-12-01

    Ictal single-photon emission computed tomography (SPECT) is a valuable method for localizing the ictal onset zone in the presurgical evaluation of patients with intractable epilepsy. Conventional methods used to localize the ictal onset zone have problems with time lag from seizure onset to injection. To evaluate the clinical usefulness of a method that we developed, which involves an attachable automated injector (AAI), in reducing time lag and improving the ability to localize the zone of seizure onset. Patients admitted to the epilepsy monitoring unit (EMU) between January 1, 2003, and June 30, 2008, were included. The definition of ictal onset zone was made by comprehensive review of medical records, magnetic resonance imaging (MRI), data from video electroencephalography (EEG) monitoring, and invasive EEG monitoring if available. We comprehensively evaluated the time lag to injection and the image patterns of ictal SPECT using traditional visual analysis, statistical parametric mapping-assisted, and subtraction ictal SPECT coregistered to an MRI-assisted means of analysis. Image patterns were classified as localizing, lateralizing, and nonlateralizing. The whole number of patients was 99: 48 in the conventional group and 51 in the AAI group. The mean (SD) delay time to injection from seizure onset was 12.4+/-12.0 s in the group injected by our AAI method and 40.4+/-26.3 s in the group injected by the conventional method (P=0.000). The mean delay time to injection from seizure detection was 3.2+/-2.5 s in the group injected by the AAI method and 21.4+/-9.7 s in the group injected by the conventional method (P=0.000). The AAI method was superior to the conventional method in localizing the area of seizure onset (36 out of 51 with AAI method vs. 21 out of 48 with conventional method, P=0.009), especially in non-temporal lobe epilepsy (non-TLE) patients (17 out of 27 with AAI method vs. 3 out of 13 with conventional method, P=0.041), and in lateralizing the

  7. Newcomers in paediatric GI pathology: childhood enteropathies including very early onset monogenic IBD.

    Science.gov (United States)

    Ensari, Arzu; Kelsen, Judith; Russo, Pierre

    2017-07-17

    Childhood enteropathies are a group of diseases causing severe chronic (>2-3 weeks) diarrhoea often starting in the first week of life with the potential for fatal complications for the affected infant. Early identification and accurate classification of childhood enteropathies are, therefore, crucial for making treatment decisions to prevent life-threatening complications. Childhood enteropathies are classified into four groups based on the underlying pathology: (i) conditions related to defective digestion, absorption and transport of nutrients and electrolytes; (ii) disorders related to enterocyte differentiation and polarization; (iii) defects of enteroendocrine cell differentiation; and (iv) disorders associated with defective modulation of intestinal immune response. While the intestinal mucosa is usually normal in enteropathies related to congenital transport or enzyme deficiencies, the intestinal biopsy in other disorders may reveal a wide range of abnormalities varying from normal villous architecture to villous atrophy and/or inflammation, or features specific to the underlying disorder including epithelial abnormalities, lipid vacuolization in the enterocytes, absence of plasma cells, lymphangiectasia, microorganisms, and mucosal eosinophilic or histiocytic infiltration. This review intends to provide an update on small intestinal biopsy findings in childhood enteropathies, the "newcomers", including very early onset monogenic inflammatory bowel disease (IBD), in particular, for the practicing pathologist.

  8. Early onset imatinib mesylate-induced hepatotoxicity in a patient with gastrointestinal stromal tumors.

    Science.gov (United States)

    Yachoui, Ralph

    2014-01-01

    Imatinib mesylate is used for the treatment of patients with Philadelphia chromosome-positive chronic myeloid leukemia and gastrointestinal stromal tumors (GISTs). It has been associated with severe hepatotoxicity, which may lead to liver failure and death. Few cases of imatinib mesylate-induced liver failure have been reported; most of them were observed in patients treated for chronic myeloid leukemia. To date, 2 cases were reported in patients treated for GISTs. Elevation of liver function tests is usually observed during the first 2-3 months after the initiation of therapy. We report a 46-year-old woman with advanced GISTs who developed hepatotoxicity 11 days after the initiation of imatinib therapy. Before therapy with imatinib, her liver function tests were normal. She had no known risk factors for viral or alcoholic liver disease. Imatinib was her only regular medication, and she had not used acetaminophen or over-the-counter medications. Her serologic studies for hepatitis were all negative. One week after imatinib discontinuation, liver function tests improved significantly. The present report confirms the possibility of early onset imatinib mesylate-induced liver failure in patients treated for GISTs. Surveillance of liver function tests should start early after the initiation of treatment and during all the duration of therapy.

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

    Directory of Open Access Journals (Sweden)

    Merok Marianne A

    2010-05-01

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

  10. Childhood abuse and late-life depression: Mediating effects of psychosocial factors for early- and late-onset depression.

    Science.gov (United States)

    Wielaard, Ilse; Hoyer, Mathijs; Rhebergen, Didi; Stek, Max L; Comijs, Hannie C

    2018-03-01

    Childhood abuse makes people vulnerable to developing depression, even in late life. Psychosocial factors that are common in late life, such as loneliness or lack of a partner, may explain this association. Our aim was to investigate whether the association between childhood abuse and depression in older adults can be explained by psychosocial factors. Cross-sectional data were derived from the Netherlands Study of Depression in Older Persons (aged 60-93), including 132 without lifetime depression, 242 persons with an early-onset depression (Childhood abuse (yes/no) and a frequency-based childhood abuse index were included. Multinomial regression and multivariable mediation analyses were used to examine the association between childhood abuse and the onset of depression, and the influence of loneliness, social network, and partner status. Multinomial regression analyses showed a significant association between childhood abuse and the childhood abuse index with early- and late-onset depression. Multivariable mediation analyses showed that the association between childhood abuse and early-onset depression was partly mediated by social network size and loneliness. This was particularly present for emotional neglect and psychological abuse, but not for physical and sexual abuse. No psychosocial mediators were found for the association between childhood abuse and late-onset depression. A smaller social network and feelings of loneliness mediate the association between childhood abuse and early-onset depression in older adults. Our findings show the importance of detecting childhood abuse as well as the age at depression onset and mapping of relevant psychosocial factors in the treatment of late-life depression. Copyright © 2018 John Wiley & Sons, Ltd.

  11. Limited diagnostic value of procalcitonin in early diagnosis of adult onset Still's disease.

    Science.gov (United States)

    Gowin, Ewelina; Wysocki, Jacek

    2016-01-01

    A 17-year-old female patient was referred to the Infectious Diseases Ward because of fever lasting for 14 days. On admission to the hospital the patient was in a generally good state, without any abnormalities on physical examination. Laboratory investigation revealed elevated inflammatory markers. Diagnostic imaging comprising chest X-ray, abdominal ultrasonography, and echocardiography showed no abnormalities. During the hospitalization, there occurred episodes of fever with skin rash and musculoskeletal pain of the lower limbs. Procalcitonin concentrations continued to increase. C-reactive protein concentrations decreased during therapy, starting from 191 mg/l. On the 23 rd day of the disease, edema of the feet, ankles, and knees appeared. On the basis of the clinical picture and after excluding other possible causes of fever, the patient was diagnosed with adult onset Still's disease. The procalcitonin concentration was normalized after 5 days of steroid therapy. The patient was discharged under ambulatory rheumatologic supervision.

  12. Local-to-remote cortical connectivity in early- and adulthood-onset schizophrenia.

    Science.gov (United States)

    Jiang, L; Xu, Y; Zhu, X-T; Yang, Z; Li, H-J; Zuo, X-N

    2015-05-12

    Schizophrenia is increasingly thought of as a brain network or connectome disorder and is associated with neurodevelopmental processes. Previous studies have suggested the important role of anatomical distance in developing a connectome with optimized performance regarding both the cost and efficiency of information processing. Distance-related disturbances during development have not been investigated in schizophrenia. To test the distance-related miswiring profiles of connectomes in schizophrenia, we acquired resting-state images from 20 adulthood-onset (AOS) and 26 early-onset schizophrenia (EOS) patients, as well as age-matched healthy controls. All patients were drug naive and had experienced their first psychotic episode. A novel threshold-free surface-based analytic framework was developed to examine local-to-remote functional connectivity profiles in both AOS and EOS patients. We observed consistent increases of local connectivity across both EOS and AOS patients in the right superior frontal gyrus, where the connectivity strength was correlated with a positive syndrome score in AOS patients. In contrast, EOS but not AOS patients exhibited reduced local connectivity within the right postcentral gyrus and the left middle occipital cortex. These regions' remote connectivity with their interhemispheric areas and brain network hubs was altered. Diagnosis-age interactions were detectable for both local and remote connectivity profiles. The functional covariance between local and remote homotopic connectivity was present in typically developing controls, but was absent in EOS patients. These findings suggest that a distance-dependent miswiring pattern may be one of the key neurodevelopmental features of the abnormal connectome organization in schizophrenia.

  13. [Clinical characteristics of children with an initial onset of IgA nephropathy with nephrotic syndrome].

    Science.gov (United States)

    Zhang, Liang; Li, Zhi-Hui; Yin, Yan; Duan, Cui-Rong; Xun, Mai; Wu, Tian-Hui; Zhang, Yi; Ding, Yun-Feng

    2015-08-01

    To study the clinical characteristics of children with an initial onset of IgA nephropathy with nephrotic syndrome and compare them with children with primary nephrotic syndrome, in order to provide a theoretical basis for the differential diagnosis of the two diseases. Fifty children diagnosed with an initial onset of IgA nephropathy with nephrotic syndrome were included in this study. Seventy-two children diagnosed with an initial onset of primary nephrotic syndrome served as the control group. The clinical and laboratory examination characteristics were compared between the two groups. The IgA nephropathy group had significantly higher incidence rates of gross haematuria, microscopic haematuria, hypertension, acute kidney injury, low serum high-density lipoprotein cholesterol, anemia, low serum complement C4, steroid resistance, and nephritis-type nephrotic syndrome and a significantly lower incidence of elevated serum IgE compared with the control group (Psyndrome and primary nephrotic syndrome. Children with IgA nephropathy presenting nephrotic syndrome manifest mainly as nephritis type and steroid-resistant type in the clinical classification. Cinical manifestations accompanied by serum levels of high-density lipoprotein cholesterol and IgE are helpful for differential diagnosis of IgA nephropathy presenting nephrotic syndrome and primary nephrotic syndrome.

  14. Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia.

    Science.gov (United States)

    Giordano, Ilaria; Harmuth, Florian; Jacobi, Heike; Paap, Brigitte; Vielhaber, Stefan; Machts, Judith; Schöls, Ludger; Synofzik, Matthis; Sturm, Marc; Tallaksen, Chantal; Wedding, Iselin M; Boesch, Sylvia; Eigentler, Andreas; van de Warrenburg, Bart; van Gaalen, Judith; Kamm, Christoph; Dudesek, Ales; Kang, Jun-Suk; Timmann, Dagmar; Silvestri, Gabriella; Masciullo, Marcella; Klopstock, Thomas; Neuhofer, Christiane; Ganos, Christos; Filla, Alessandro; Bauer, Peter; Tezenas du Montcel, Sophie; Klockgether, Thomas

    2017-09-05

    To define the clinical phenotype and natural history of sporadic adult-onset degenerative ataxia and to identify putative disease-causing mutations. The primary measure of disease severity was the Scale for the Assessment and Rating of Ataxia (SARA). DNA samples were screened for mutations using a high-coverage ataxia-specific gene panel in combination with next-generation sequencing. The analysis was performed on 249 participants. Among them, 83 met diagnostic criteria of clinically probable multiple system atrophy cerebellar type (MSA-C) at baseline and another 12 during follow-up. Positive MSA-C criteria (4.94 ± 0.74, p 10 years were designated sporadic adult-onset ataxia of unknown etiology/non-MSA (SAOA/non-MSA). Compared with MSA-C, SAOA/non-MSA patients had lower SARA scores (13.6 ± 6.0 vs 16.0 ± 5.8, p = 0.0200) and a slower annual SARA increase (1.1 ± 2.3 vs 3.3 ± 3.2, p = 0.0013). In 11 of 194 tested participants (6%), a definitive or probable genetic diagnosis was made. Our study provides quantitative data on the clinical phenotype and progression of sporadic ataxia with adult onset. Screening for causative mutations with a gene panel approach yielded a genetic diagnosis in 6% of the cohort. NCT02701036. © 2017 American Academy of Neurology.

  15. Epilepsy with onset at over 50 years of age: clinical and electroencephalographic characteristics

    Directory of Open Access Journals (Sweden)

    Glória Maria Almeida Souza Tedrus

    2012-10-01

    Full Text Available Epilepsy in older individuals has an elevated incidence. The objective of the present work was to evaluate the clinical, EEG and brain imaging aspects in patients showing late-onset epilepsy. Fifty-five patients with late-onset epilepsy (older than 50 years were evaluated. They were composed of two groups according to the onset age of the epilepsy seizure (ES: 51-60 (G51-60 and over 60 (G60+ years. Focal ES predominated although they were less frequent in G60+. The occurrence of status epilepticus was high and more frequent in G60+ whereas seizures in series predominated in G51-60. Symptomatic epilepsy was more frequent and the vascular etiology predominated. Epileptiform activity was associated with a greater number of ES, and background activity abnormalities were more frequent in G60+. In conclusion, epilepsy with onset at over 50 was predominantly focal and symptomatic, with a high occurrence of status epilepticus and of seizures in series.

  16. Early-life exposures predicting onset and resolution of childhood overweight or obesity.

    Science.gov (United States)

    Kerr, Jessica A; Long, Catherine; Clifford, Susan A; Muller, Joshua; Gillespie, Alanna N; Donath, Susan; Wake, Melissa

    2017-10-01

    To determine which of multiple early-life exposures predict onset or resolution of overweight/obesity during a 9-year period. Design : longitudinal cohort from three harmonised community-based cohorts enriched for overweight and obesity. Early-life exposures : child-gestational age; delivery; birth weight; breast feeding; solids introduction; baseline body mass index (BMI); waist circumference; diet; activity; global, physical and psychosocial health. Mother-baseline BMI; education; age; neighbourhood disadvantage; concern for child's weight. Outcome : change in BMI category. Analyses : adjusted logistic regression. On average, the 363 children (57% retention) were 6 and 15 years old at baseline and follow-up. Children were classified as 'never' overweight/obese (38%), 'resolving' overweight/obese (15%), 'becoming' overweight/obese (8%) or 'always' overweight/obese (39%). Compared with 'never overweight/obese' children, odds of 'becoming overweight/obese' were greater with higher child (OR 2.33, 95% CI 1.02 to 5.29) and maternal BMI (OR 1.18, CI 1.07 to 1.31), and lower with higher maternal education (OR 0.09, CI 0.02 to 0.34). Compared with 'always overweight/obese' children, odds of 'resolving overweight/obese' were lower with higher maternal BMI (OR 0.87, CI 0.78 to 0.97), and higher with better child physical health (OR 1.06, CI 1.02 to 1.10) and higher maternal age (OR 1.11, CI 1.01 to 1.22) and education (OR 4.07, CI 1.02 to 16.19). Readily available baseline information (child/maternal BMI, maternal age, education and child health) were the strongest predictors of both onset and resolution of overweight/obesity between the primary school and adolescent years. Perinatal, breastfeeding and lifestyle exposures were not strongly predictive. Results could stimulate development of algorithms identifying children most in need of targeted prevention or treatment. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under

  17. The contribution of founder mutations to early-onset breast cancer in French-Canadian women.

    Science.gov (United States)

    Ghadirian, P; Robidoux, A; Zhang, P; Royer, R; Akbari, M; Zhang, S; Fafard, E; Costa, M; Martin, G; Potvin, C; Patocskai, E; Larouche, N; Younan, R; Nassif, E; Giroux, S; Narod, S A; Rousseau, F; Foulkes, W D

    2009-11-01

    In an ethnically-homogeneous population, it is valuable to identify founder mutations in cancer-predisposing genes. Founder mutations have been found in four breast-cancer-predisposing genes in French-Canadian breast cancer families. The frequencies of the mutant alleles have been measured neither in a large series of unselected breast cancer patients from Quebec, nor in healthy controls. These estimates are necessary to measure their contribution to the hereditary burden of breast cancer in Quebec and to help develop genetic screening policies which are appropriate for the province. We studied 564 French-Canadian women with early-onset invasive breast cancer who were treated at a single Montreal hospital. Patients had been diagnosed at age 50 or less, and were ascertained between 2004 and 2008. We screened all 564 patients for nine founder mutations: four in BRCA1, three in BRCA2 and one each in PALB2 and CHEK2. We also studied 6433 DNA samples from newborn infants from the Quebec City area to estimate the frequency of the nine variant alleles in the French-Canadian population. We identified a mutation in 36 of the 564 breast cancer cases (6.4%) and in 35 of 6443 controls (0.5%). In the breast cancer patients, the majority of mutations were in BRCA2 (54%). However, in the general population (newborn infants), the majority of mutations were in CHEK2 (54%). The odds ratio for breast cancer to age 50, given a BRCA1 mutation, was 10.1 (95% CI: 3.7-28) and given a BRCA2 mutation was 29.5 (95% CI: 12.9-67). The odds ratio for breast cancer to age 50, given a CHEK2 mutation, was 3.6 (95% CI: 1.4-9.1). One-half of the women with a mutation had a first- or second-degree relative diagnosed with breast or ovarian cancer. Thus, it can be concluded that a predisposing mutation in BRCA1, BRCA2, CHEK2 or PALB2 is present in approximately 6% of French-Canadian women with early-onset breast cancer. It is reasonable to offer screening for founder mutations to all French

  18. Some characteristics of early-onset injection drug users prior to and at the time of their first injection.

    Science.gov (United States)

    Abelson, Jeanne; Treloar, Carla; Crawford, June; Kippax, Susan; van Beek, Ingrid; Howard, John

    2006-04-01

    This paper examines differences between early- and late-onset injection drug users (12-16 years versus 17-24 years) in terms of the antecedents and circumstances of first injection. Cross-sectional retrospective design, using logistic regression. Setting Australia: Sydney, Brisbane, rural New South Wales. A total of 336 injection drug users aged 16-25 years at the time of interview. Independent variables included family injection drug use, homelessness and other demographic variables, drugs used prior to the first injection, length of pre-injection drug career, behaviours at time of first injection (e.g. drug injected, reasons/motives for the first injection, risk behaviours). Early-onset injection was associated independently with: having a family who injected drugs, having left school early, an unreliable source of income, a short pre-injection drug career, planning of the first injection, reliance on others for administration of the first injection and denial that experimentation was the motive for the first injection. In bivariate analysis, early-onset injection was associated further with: homelessness, being an Indigenous Australian, omission of use of certain pre-injection drugs, group presence at first injection, reliance on others for acquisition of the first needle and syringe and having injected the first time because an injection was offered. The research shows that early-onset, compared with late-onset injectors, are more likely to have an immediate family who inject drugs and other problematic beginnings in early life. They have an accelerated transition to injection, and differences in autonomy and motivation at first injection. These characteristics may make them more vulnerable to risk taking.

  19. Early-onset dropped head syndrome after radiotherapy for head and neck cancer: dose constraints for neck extensor muscles

    International Nuclear Information System (INIS)

    Inaba, Koji; Nakamura, Satoshi; Okamoto, Hiroyuki; Kashihara, Tairo; Kobayashi, Kazuma; Harada, Ken; Kitaguchi, Mayuka; Sekii, Shuhei; Takahashi, Kana; Murakami, Naoya; Ito, Yoshinori; Igaki, Hiroshi; Uno, Takashi; Itami, Jun

    2016-01-01

    Dropped head syndrome (DHS) is a famous but unusual late complication of multimodality treatment for head and neck carcinoma. We reported this early-onset complication and analyzed the dose to the neck extensor muscles. We examined the records of three patients with DHS after radiotherapy. The doses to the neck extensor muscles were compared between three patients with DHS and nine patients without DHS. The mean dose to the neck extensor muscles of the three patients with DHS were 58.5 Gy, 42.3 Gy and 60.9 Gy, while the dose was <50 Gy in all nine patients in the control group. The onset of this syndrome was 5 months, 6 months and 15 months. The early-onset DHS may have something to do with dose to the neck extensor muscles. The proposed dose to the neck extensor muscles might be <46 Gy (or at least <50 Gy)

  20. Epidural Brain Metastases in a Patient with Early Onset Pancreatic Cancer: A Case Report and Literature Review

    Directory of Open Access Journals (Sweden)

    Aibek E. Mirrakhimov

    2012-01-01

    Full Text Available We present a case of early onset pancreatic cancer related extra-axial brain metastases. A 46-year-old Caucasian non-Jewish nonobese male with a history of PC diagnosed 3 months ago with metastases to the liver, omentum, malignant ascites, and a history of a pulmonary embolism was admitted to the hospital because of a new onset headache, nausea, and vomiting which started 2 days prior to the encounter. Brain MRI was ordered, which showed acute bihemispheric subdural hematomas and left hemispheric extra-axial heterogeneously enhancing lesions consisting with metastatic disease. The patient was started on ondansentron, metoclopramide, and dexamethasone. The cranial irradiation was started, and the patient’s headache and nausea significantly improved. There are only 9 published reports of extra-axial brain metastases related to the pancreatic cancer, whereas our paper is the first such case reported on a patient with epidural metastases and early onset pancreatic cancer.

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

    DEFF Research Database (Denmark)

    Jepsen, Jens Richardt Møllegaard; Fagerlund, Birgitte; Pagsberg, Anne Katrine

    2013-01-01

    -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......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...

  2. Direct diabetes-related costs in young patients with early-onset, long-lasting type 1 diabetes.

    Directory of Open Access Journals (Sweden)

    Christina Bächle

    Full Text Available OBJECTIVE: To estimate diabetes-related direct health care costs in pediatric patients with early-onset type 1 diabetes of long duration in Germany. RESEARCH DESIGN AND METHODS: Data of a population-based cohort of 1,473 subjects with type 1 diabetes onset at 0-4 years of age within the years 1993-1999 were included (mean age 13.9 (SD 2.2 years, mean diabetes duration 10.9 (SD 1.9 years, as of 31.12.2007. Diabetes-related health care services utilized in 2007 were derived from a nationwide prospective documentation system (DPV. Health care utilization was valued in monetary terms based on inpatient and outpatient medical fees and retail prices (perspective of statutory health insurance. Multiple regression models were applied to assess associations between direct diabetes-related health care costs per patient-year and demographic and clinical predictors. RESULTS: Mean direct diabetes-related health care costs per patient-year were €3,745 (inter-quartile range: 1,943-4,881. Costs for glucose self-monitoring were the main cost category (28.5%, followed by costs for continuous subcutaneous insulin infusion (25.0%, diabetes-related hospitalizations (22.1% and insulin (18.4%. Female gender, pubertal age and poor glycemic control were associated with higher and migration background with lower total costs. CONCLUSIONS: Main cost categories in patients with on average 11 years of diabetes duration were costs for glucose self-monitoring, insulin pump therapy, hospitalization and insulin. Optimization of glycemic control in particular in pubertal age through intensified care with improved diabetes education and tailored insulin regimen, can contribute to the reduction of direct diabetes-related costs in this patient group.

  3. Do rapid BMI growth in childhood and early-onset obesity offer cardiometabolic protection to obese adults in mid-life? Analysis of a longitudinal cohort study of Danish men.

    Science.gov (United States)

    Howe, Laura D; Zimmermann, Esther; Weiss, Ram; Sørensen, Thorkild I A

    2014-04-15

    Some obese individuals have no cardiometabolic abnormalities; they are 'metabolically healthy, but obese' (MHO). Similarly, some non-obese individuals have cardiometabolic abnormalities, that is, 'metabolically at risk, normal weight' (MANW). Previous studies have suggested that early-onset obesity may be associated with MHO. We aimed to assess whether body mass index (BMI) in childhood and early-onset obesity are associated with MHO. General population longitudinal cohort study, Denmark. From 362 200 young men (mean age 20) examined for Danish national service between 1943 and 1977, all obese men (BMI ≥31 kg/m(2), N=1930) were identified along with a random 1% sample of the others (N=3601). Our analysis includes 2392 of these men attending a research clinic in mid-life (mean age 42). For 613 of these men, data on childhood BMI are available. We summarised childhood BMI growth (7-13 years) using a multilevel model. Early-onset obesity was defined as obesity at examination for national service. We defined metabolic health at the mid-life clinic as non-fasting serum cholesterol obesity (BMI ≥30 kg/m(2)) and metabolic health in mid-life. 297 of 1097 (27.1%) of obese men were metabolically healthy; 826 of 1295 (63.8%) non-obese men had at least one metabolic abnormality. There was no evidence that rapid BMI growth in childhood or early-onset obesity was associated with either MHO or the MANW phenotype, for example, among obese men in mid-life, the OR for MHO comparing early-onset obesity with non-early-onset obesity was 0.97 (95% CI 0.85 to 1.10). We found no robust evidence that early-onset obesity or rapid BMI growth in childhood is protective for cardiometabolic health.

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

    Science.gov (United States)

    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

    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…

  5. Precision-cut liver slices as a model for the early onset of liver fibrosis to test antifibrotic drugs

    NARCIS (Netherlands)

    Westra, Inge M.; Oosterhuis, Dorenda; Groothuis, Geny M. M.; Olinga, Peter

    2014-01-01

    Induction of fibrosis during prolonged culture of precision-cut liver slices (PCLS) was reported. In this study, the use of rat PCLS was investigated to further characterize the mechanism of early onset of fibrosis in this model and the effects of antifibrotic compounds. Rat PCLS were incubated for

  6. "I Need a Cigarette"--The Effects of Cigarette Smoking on Depression and Anxiety of Youth with Early Onset Schizophrenia

    Science.gov (United States)

    Chen, Ya-Ling; Rittner, Barbara; Maguin, Eugene; Dziadaszek, Shannon

    2017-01-01

    The aim of this research was to examine effects of cigarette smoking on depression and anxiety among children and adolescents (youth) with early onset schizophrenia and/or psychosis. Data were obtained from the national evaluation of the Comprehensive Community Mental Health Services for Children and Their Families Program (CMHS Program). Cubic…

  7. Gain-of-function mutations in potassium channel subunit KCNE2 associated with early-onset lone atrial fibrillation

    DEFF Research Database (Denmark)

    Nielsen, Jonas Bille; Bentzen, Bo Hjorth; Olesen, Morten Salling

    2014-01-01

    Aims: Atrial fibrillation (AF) is the most common cardiac arrhythmia. Disturbances in cardiac potassium conductance are considered as one of the disease mechanisms in AF. We aimed to investigate if mutations in potassium-channel β-subunits KCNE2 and KCNE3 are associated with early-onset lone AF. ...

  8. Thyroid peroxidase antibodies during early gestation and the subsequent risk of first-onset postpartum depression: A prospective cohort study

    NARCIS (Netherlands)

    R. Wesseloo (Richard); A.M. Kamperman (Astrid); V. Bergink (Veerle); V.J.M. Pop (Victor)

    2017-01-01

    markdownabstract__Background__ During the postpartum period, women are at risk for the new onset of both auto-immune thyroid disorders and depression. The presence of thyroid peroxidase antibodies (TPO-ab) during early gestation is predictive for postpartum auto-immune thyroid dysfunction. The aim

  9. Slow identification of facial happiness in early adolescence predicts onset of depression during 8 years of follow-up

    NARCIS (Netherlands)

    Vrijen, Charlotte; Hartman, Catharina A.; Oldehinkel, Albertine J.

    2016-01-01

    Adolescent onset depression places a high burden on those who suffer from it, and is difficult to treat. An improved understanding of mechanisms underlying susceptibility to adolescent depression may be useful in early detection and as target in treatment. Facial emotion identification bias has been

  10. Effect of Antibiotic Prophylaxis on Early-Onset Pneumonia in Cardiac Arrest Patients Treated with Therapeutic Hypothermia

    Directory of Open Access Journals (Sweden)

    Soo Jung Kim

    2016-02-01

    Full Text Available Background: Infectious complications frequently occur after cardiac arrest and may be even more frequent after therapeutic hypothermia. Pneumonia is the most common infectious complication associated with therapeutic hypothermia, and it is unclear whether prophylactic antibiotics administered during this intervention can decrease the development of early-onset pneumonia. We investigated the effect of antibiotic prophylaxis on the development of pneumonia in cardiac arrest patients treated with therapeutic hypothermia. Methods: We retrospectively reviewed the medical records of patients who were admitted for therapeutic hypothermia after resuscitation for out-of-hospital cardiac arrest between January 2010 and July 2015. Patients who died within the first 72 hours or presented with pneumonia at the time of admission were excluded. Early-onset pneumonia was defined as pneumonia that developed within 5 days of admission. Prophylactic antibiotic therapy was defined as the administration of any parenteral antibiotics within the first 24 hours without any evidence of infection. Results: Of the 128 patients admitted after cardiac arrest, 68 were analyzed and 48 (70.6% were treated with prophylactic antibiotics within 24 hours. The frequency of early-onset pneumonia was not significantly different between the prophylactic antibiotic group and the control group (29.2% vs 30.0%, respectively, p = 0.945. The most commonly used antibiotic was third-generation cephalosporin, and the class of prophylactic antibiotics did not influence early-onset pneumonia. Conclusion: Antibiotic prophylaxis in cardiac arrest patients treated with therapeutic hypothermia did not reduce the frequency of pneumonia.

  11. A Meta-Analysis of Neuropsychological Functioning in Patients with Early Onset Schizophrenia and Pediatric Bipolar Disorder

    Science.gov (United States)

    Nieto, Rebeca Garcia; Castellanos, F. Xavier

    2011-01-01

    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…

  12. Early Onset of Drinking and Risk of Heavy Drinking in Young AdulthoodA 13-Year Prospective Study

    NARCIS (Netherlands)

    Rossow, I.; Kuntsche, E.N.

    2013-01-01

    Background Prevention programs often aim at preventing early onset of drinking (EOD) on the grounds that this may curb heavy drinking in adulthood. While many studies have shown an association between EOD and adult alcohol use disorders, these findings could be inflated by retrospective reports or

  13. Components of Negative Affect as Moderators of the Relationship between Early Drinking Onset and Binge-Drinking Behavior

    Science.gov (United States)

    McNamara, Robert S.; Swaim, Randall C.; Rosen, Lee A.

    2010-01-01

    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…

  14. A Novel TTBK2 De Novo Mutation in a Danish Family with Early-Onset Spinocerebellar Ataxia

    DEFF Research Database (Denmark)

    Lindquist, Suzanne Granhøj; Møller, Lisbeth Birk; Dali, Christine I.

    2017-01-01

    examined. Exome sequencing was performed and a "movement disorders" gene panel consisting of approximately 200 genes was used for filtering, while Sanger sequencing was used for subsequent testing for the mutation in the family. Onset of symptoms in affected family members was in early childhood. A novel...

  15. The Use of Voice Onset Time by Early Bilinguals to Distinguish Homorganic Stops in Canadian English and Canadian French

    Science.gov (United States)

    Macleod, Andrea A. N.; Stoel-Gammon, Carol

    2009-01-01

    The goal of this study was to examine the extent to which bilingual speakers maintain language-specific phonological contrasts for homorganic stops when a cue is shared across both languages. To this end, voice onset time (VOT) was investigated in three groups of participants: early bilinguals speakers of Canadian French and Canadian English (n =…

  16. Verbal Behavior in Young Children with Autism Spectrum Disorders at the Onset of an Early Behavioral Intervention Program

    Science.gov (United States)

    Rivard, Melina; Forget, Jacques

    2012-01-01

    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…

  17. Morbidity and development in childhood of infants born after temporising treatment of early onset pre-eclampsia.

    NARCIS (Netherlands)

    Withagen, M.I.J.; Wallenburg, H.C.S.; Steegers, E.A.P.; Hop, W.C.J.; Visser, W. de

    2005-01-01

    OBJECTIVE: To assess morbidity and development in childhood of infants born after temporising management of severe early onset pre-eclampsia. DESIGN: Cohort study with matched controls. SETTING: University centre for high risk obstetrics. SAMPLES: Three groups of neonates matched for gender and year

  18. Early-Onset Severe Encephalopathy with Epilepsy: The BRAT1 Gene Should Be Added to the List of Causes

    NARCIS (Netherlands)

    van de Pol, Laura A.; Wolf, Nicole I.; van Weissenbruch, Mirjam M.; Stam, Cornelie J.; Weiss, Janneke M.; Waisfisz, Quinten; Kevelam, Sietske H.; Bugiani, Mariana; van de Kamp, Jiddeke M.; van der Knaap, Marjo S.

    2015-01-01

    A variety of pathologies can underlie early-onset severe encephalopathy with epilepsy. To aid the diagnostic process in such patients we present an overview of causes, including the rapidly expanding list of genes involved. When no explanation is found, whole-exome sequencing (WES) can be used in an

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

    Czech Academy of Sciences Publication Activity Database

    Bártová, J.; Krátka-Opatrná, Z.; Procházková, J.; Krejsa, O.; Dušková, J.; Mrklas, L.; Tlaskalová, Helena; Cukrowska, Božena

    2000-01-01

    Roč. 9, - (2000), s. 115-120 ISSN 0962-9351 R&D Projects: GA MZd NK5006 Institutional research plan: CEZ:AV0Z5020903 Keywords : early onset periodontitis * immunoglobulin Subject RIV: EC - Immunology Impact factor: 0.990, year: 2000

  20. THE PROBLEMS OF EARLY CLINICAL DEFECTOLOGICAL DIAGNOSTICS

    Directory of Open Access Journals (Sweden)

    Aleksandar CORDIC

    1997-06-01

    Full Text Available Clinical defectological diagnostics, related to diagnostics of each individual's impairment of his cognitive and socializing abilities, has been applied in our country for a long time. Since it is a new area in the clinical defectological work and a new form of research in defectology, it poses a series of problems which have not been met so far. We shall to recognize some of them in this paper and to aim at their solution.This time we shall consider only the most prominent problems towards which we direct our interventions:· When does defectological diagnostics take part in diagnosis as treatment of impairments of the handicapped person? When does it function in the process of rehabilitation? For example, is working with a dyslexic child treatment or rehabilitation?· When does the early diagnostics reveal a problem arising from inappropriate intersection of different development courses, which can sometimes be solved without any particular treatment (early stuttering, various convulsions, and when does it reveal actual condition, such as oligophrenia or autism. Thereby we ask ourselves if early stimulative treatment of oligophrenic children or children with early childhood psychosis is treatment or rehabilitation.We tried to classify end explain the problems of diagnostics in the context of treatment and rehabilitation and to define the theoretical grounds for our standpoints.We wanted to point out the unity of the process of any impairment of the handicapped person from early childhood to the end of his life. Treatment and rehabilitation should be a united process and follow the course of development of early disorders which sometimes end up as handicaps, and sometimes, thanks to the treatment, may end up in successful socialization, for example, persons with impaired hearing or sight.We establish defectology as a complete theoretical standpoint and expert procedure which is parallel to and complementary with medicine. The only difference we

  1. Early Subchondral Bone Loss at Arthritis Onset Predicted Late Arthritis Severity in a Rat Arthritis Model.

    Science.gov (United States)

    Courbon, Guillaume; Cleret, Damien; Linossier, Marie-Thérèse; Vico, Laurence; Marotte, Hubert

    2017-06-01

    Synovitis is usually observed before loss of articular function in rheumatoid arthritis (RA). In addition to the synovium and according to the "Inside-Outside" theory, bone compartment is also involved in RA pathogenesis. Then, we investigated time dependent articular bone loss and prediction of early bone loss to late arthritis severity on the rat adjuvant-induced arthritis (AIA) model. Lewis female rats were longitudinally monitored from arthritis induction (day 0), with early (day 10) and late (day 17) steps. Trabecular and cortical microarchitecture parameters of four ankle bones were assessed by microcomputed tomography. Gene expression was determined at sacrifice. Arthritis occurred at day 10 in AIA rats. At this time, bone erosions were detected on four ankle bones, with cortical porosity increase (+67%) and trabecular alterations including bone volume fraction (BV/TV: -13%), and trabecular thickness decrease. Navicular bone assessment was the most reproducible and sensitive. Furthermore, strong correlations were observed between bone alterations at day 10 and arthritis severity or bone loss at day 17, including predictability of day 10 BV/TV to day 17 articular index (R 2  = 0.76). Finally, gene expression at day 17 confirmed massive osteoclast activation and interestingly provided insights on strong activation of bone formation inhibitor markers at the joint level. In rat AIA, bone loss was already observed at synovitis onset and was predicted late arthritis severity. Our results reinforced the key role of subchondral bone in arthritis pathogenesis, in favour to the "Inside-Outside" theory. Mechanisms of bone loss in rat AIA involved resorption activation and formation inhibition changes. J. Cell. Physiol. 232: 1318-1325, 2017. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  2. Early-onset, severe, and recurrent primary hyperparathyroidism associated with a novel CDC73 mutation.

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    Shibata, Yusuke; Yamazaki, Masanori; Takei, Masahiro; Uchino, Shinya; Sakurai, Akihiro; Komatsu, Mitsuhisa

    2015-01-01

    Hyperparathyroidism-jaw tumor syndrome (HPT-JT) is a rare autosomal dominant hereditary tumor syndrome characterized by synchronous or metachronous occurrence of primary hyperparathyroidism (PHPT), ossifying fibroma of the maxilla and/or mandible, renal tumor and uterine tumors. Early diagnosis of this syndrome is essential because it is associated with increased risk of parathyroid cancer. A 30-year-old man with urolithiasis had severe hypercalcemia (15.0 mg/dL after correction) induced by inappropriate parathyroid hormone (PTH) secretion (intact PTH 1390 pg/mL), indicating severe PHPT. An underlying parathyroid tumor was surgically removed and was histologically confirmed to be an adenoma. However, PHPT due to another parathyroid tumor reoccurred two years after the surgery. Although no HPT-JT-associated manifestations other than PHPT were detected, HPT-JT was strongly suspected based on the exclusion of multiple endocrine neoplasia (MEN) and the young age of disease occurrence. Genetic analysis revealed a novel nonsense mutation (p.Arg91X; c.271C>T) in exon 3 of the causative gene, CDC73, which encodes the tumor suppressor protein parafibromin. The residual parathyroid glands were all removed without autotransplantation of parathyroid gland taking into consideration prospective parathyroid carcinogenesis. The resected parathyroid tumor was also an adenoma. The present case highlights that HPT-JT should be considered and CDC73 mutation analysis should be performed, especially in cases of early-onset PHPT, recurrent PHPT, PHPT with polyglandular parathyroid involvement, and PHPT presenting with severe hypercalcemia even if there is no positive family history.

  3. [Cord blood procalcitonin in the assessment of early-onset neonatal sepsis].

    Science.gov (United States)

    Oria de Rueda Salguero, Olivia; Beceiro Mosquera, José; Barrionuevo González, Marta; Ripalda Crespo, María Jesús; Olivas López de Soria, Cristina

    2017-08-01

    Early diagnosis of early-onset neonatal sepsis (EONS) is essential to reduce morbidity and mortality. Procalcitonin (PCT) in cord blood could provide a diagnosis of infected patients from birth. To study the usefulness and safety of a procedure for the evaluation of newborns at risk of EONS, based on the determination of PCT in cord blood. Neonates with infectious risk factors, born in our hospital from October 2013 to January 2015 were included. They were processed according to an algorithm based on the values of cord blood procalcitonin (< 0.6ng/ml versus ≥0.6ng/ml). They were later classified as proved infection, probable, or no infection. Of the 2,519 infants born in the study period, 136 met inclusion criteria. None of 120 cases with PCT<0.6ng/ml in cord blood developed EONS (100% negative predictive value). On the other hand, of the 16 cases with PCT ≥0.6ng/ml, 10 were proven or probably infected (62.5% positive predictive value). The sensitivity of the PCT against infection was 100%, with a specificity of 95.2% (area under the receiver operator curve 0.969). The incidence of infection in the study group was 7.4%, and 26.1% in cases with maternal chorioamnionitis. 21 newborn (15.4%) received antibiotic therapy. The studied protocol has shown to be effective and safe to differentiate between patients with increased risk of developing an EONS, in those where the diagnostic and therapeutic approach was more interventionist, versus those with less likelihood of sepsis, who would benefit from a more conservative management. Copyright © 2016 Asociación Española de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

  4. CLINICAL STUDY OF EARLY BREAST CARCINOMA

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    Kiran Kumar

    2016-01-01

    Full Text Available Carcinoma of the breast is one of the commonest cancers occurring in female and accounts for 1/3rd of all the malignant diseases occurring in them. It is mainly a disease of the developed countries and accounts for 1,00,000 deaths annually. Breast carcinoma is classified as Early breast cancer, Locally advanced breast cancer and Metastatic breast cancer. By definition early stage breast cancer constitutes breast tumors of clinical stages I, IIa and T2N1M0. Early breast cancer is the one diagnosed by mammography. Women when approaches at this stage, they can go for breast conservation surgery. Not all women are candidates for this approach, and some require mastectomy as part of their treatment. AIM To observe the incidence of early breast carcinoma with particular reference to the time taken by the patients to seek medical advice after the symptoms have developed i.e. the average time taken by the patients to seek medical advice, their appropriate management and prognosis. MATERIALS AND METHODS This prospective study was conducted over a period of 2 years from Oct-2012 to Oct-2014 in 30 female patients aged between 25-65 years who were presented with lump in breast of size ≤5cms with or without pain, with or without lymph nodes to the outpatient department. All the patients were thoroughly asked about history, examined clinically, investigated, staged and managed by surgery either Breast Conservation Surgery or Modified Radical Mastectomy. Postoperative complications were recorded and followed up regularly. RESULTS The incidence of early breast cancer in this study was 0.98% with peak age incidence between 40-60 years and duration of symptoms <6 months in 18 patients. Breast Conservation Surgery + axillary dissection + Radiotherapy was done in 23%. Prognosis was good in these patients with no local recurrence and death. CONCLUSION The prognosis of early stage breast carcinoma patients in this study was good. To have long term tumor free and

  5. High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease.

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    Pottier, C; Hannequin, D; Coutant, S; Rovelet-Lecrux, A; Wallon, D; Rousseau, S; Legallic, S; Paquet, C; Bombois, S; Pariente, J; Thomas-Anterion, C; Michon, A; Croisile, B; Etcharry-Bouyx, F; Berr, C; Dartigues, J-F; Amouyel, P; Dauchel, H; Boutoleau-Bretonnière, C; Thauvin, C; Frebourg, T; Lambert, J-C; Campion, D

    2012-09-01

    Performing exome sequencing in 14 autosomal dominant early-onset Alzheimer disease (ADEOAD) index cases without mutation on known genes (amyloid precursor protein (APP), presenilin1 (PSEN1) and presenilin2 (PSEN2)), we found that in five patients, the SORL1 gene harbored unknown nonsense (n=1) or missense (n=4) mutations. These mutations were not retrieved in 1500 controls of same ethnic origin. In a replication sample, including 15 ADEOAD cases, 2 unknown non-synonymous mutations (1 missense, 1 nonsense) were retrieved, thus yielding to a total of 7/29 unknown mutations in the combined sample. Using in silico predictions, we conclude that these seven private mutations are likely to have a pathogenic effect. SORL1 encodes the Sortilin-related receptor LR11/SorLA, a protein involved in the control of amyloid beta peptide production. Our results suggest that besides the involvement of the APP and PSEN genes, further genetic heterogeneity, involving another gene of the same pathway is present in ADEOAD.

  6. SORL1 rare variants: a major risk factor for familial early-onset Alzheimer's disease.

    Science.gov (United States)

    Nicolas, G; Charbonnier, C; Wallon, D; Quenez, O; Bellenguez, C; Grenier-Boley, B; Rousseau, S; Richard, A-C; Rovelet-Lecrux, A; Le Guennec, K; Bacq, D; Garnier, J-G; Olaso, R; Boland, A; Meyer, V; Deleuze, J-F; Amouyel, P; Munter, H M; Bourque, G; Lathrop, M; Frebourg, T; Redon, R; Letenneur, L; Dartigues, J-F; Génin, E; Lambert, J-C; Hannequin, D; Campion, D

    2016-06-01

    The SORL1 protein plays a protective role against the secretion of the amyloid β peptide, a key event in the pathogeny of Alzheimer's disease. We assessed the impact of SORL1 rare variants in early-onset Alzheimer's disease (EOAD) in a case-control setting. We conducted a whole exome analysis among 484 French EOAD patients and 498 ethnically matched controls. After collapsing rare variants (minor allele frequency ≤1%), we detected an enrichment of disruptive and predicted damaging missense SORL1 variants in cases (odds radio (OR)=5.03, 95% confidence interval (CI)=(2.02-14.99), P=7.49.10(-5)). This enrichment was even stronger when restricting the analysis to the 205 cases with a positive family history (OR=8.86, 95% CI=(3.35-27.31), P=3.82.10(-7)). We conclude that predicted damaging rare SORL1 variants are a strong risk factor for EOAD and that the association signal is mainly driven by cases with positive family history.

  7. Factor V leiden and ischemic stroke risk: the Genetics of Early Onset Stroke (GEOS) study.

    Scien