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Sample records for early onset neonatal

  1. Early-Onset Neonatal Sepsis

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    Simonsen, Kari A.; Anderson-Berry, Ann L.; Delair, Shirley F.

    2014-01-01

    SUMMARY Early-onset sepsis remains a common and serious problem for neonates, especially preterm infants. Group B streptococcus (GBS) is the most common etiologic agent, while Escherichia coli is the most common cause of mortality. Current efforts toward maternal intrapartum antimicrobial prophylaxis have significantly reduced the rates of GBS disease but have been associated with increased rates of Gram-negative infections, especially among very-low-birth-weight infants. The diagnosis of neonatal sepsis is based on a combination of clinical presentation; the use of nonspecific markers, including C-reactive protein and procalcitonin (where available); blood cultures; and the use of molecular methods, including PCR. Cytokines, including interleukin 6 (IL-6), interleukin 8 (IL-8), gamma interferon (IFN-γ), and tumor necrosis factor alpha (TNF-α), and cell surface antigens, including soluble intercellular adhesion molecule (sICAM) and CD64, are also being increasingly examined for use as nonspecific screening measures for neonatal sepsis. Viruses, in particular enteroviruses, parechoviruses, and herpes simplex virus (HSV), should be considered in the differential diagnosis. Empirical treatment should be based on local patterns of antimicrobial resistance but typically consists of the use of ampicillin and gentamicin, or ampicillin and cefotaxime if meningitis is suspected, until the etiologic agent has been identified. Current research is focused primarily on development of vaccines against GBS. PMID:24396135

  2. Risk assessment in neonatal early onset sepsis.

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    Mukhopadhyay, Sagori; Puopolo, Karen M

    2012-12-01

    The incidence of neonatal early onset sepsis has declined with the widespread use of intrapartum antibiotic therapies, yet early onset sepsis remains a potentially fatal condition, particularly among very low birth-weight infants. Clinical signs of neonatal infection are nonspecific and may be absent in the immediate postnatal period. Maternal and infant clinical characteristics, as well as infant laboratory values, have been used to identify newborns at risk and to administer empiric antibiotic therapy to prevent progression to more severe illness. Such approaches result in the evaluation of approximately 15% of asymptomatic term and late preterm infants and of nearly all preterm infants. The development of multivariate predictive models may provide more accurate methods of identifying newborns at highest risk and allow for more limited newborn antibiotic exposures. Copyright © 2012 Elsevier Inc. All rights reserved.

  3. Risk Assessment in Neonatal Early-Onset Sepsis

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    Mukhopadhyay, Sagori; Puopolo, Karen M.

    2013-01-01

    The incidence of neonatal early-onset sepsis has declined with the widespread use of intrapartum antibiotic therapies, yet early-onset sepsis remains a potentially fatal condition, particularly among very low-birth weight infants. Clinical signs of neonatal infection are non-specific and may be absent in the immediate postnatal period. Maternal and infant clinical characteristics, as well as infant laboratory values, have been used to identify newborns at risk, and to administer empiric antibiotic therapy to prevent progression to more severe illness. Such approaches result in the evaluation of approximately 15% of asymptomatic term and late preterm infants and of nearly all preterm infants. The development of multivariate predictive models may provide more accurate methods of identifying newborns at highest risk and allow for more limited newborn antibiotic exposures. PMID:23177799

  4. Early onset neonatal sepsis: diagnostic dilemmas and practical management.

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    Bedford Russell, A R; Kumar, R

    2015-07-01

    Early onset neonatal sepsis is persistently associated with poor outcomes, and incites clinical practice based on the fear of missing a treatable infection in a timely fashion. Unnecessary exposure to antibiotics is also hazardous. Diagnostic dilemmas are discussed in this review, and suggestions offered for practical management while awaiting a more rapidly available 'gold standard' test; in an ideal world, this test would be 100% sensitive and 100% specific for the presence of organisms. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

  5. 1:4 matched case-control study on influential factor of early onset neonatal sepsis.

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    Jiang, Z; Ye, G-Y

    2013-09-01

    Bacteria, funghi, viruses and protozoa can lead to neonatal sepsis. Neonatal sepsis is the leading cause of infectious disease onset and death in many neonates. To explore the major risk factors of early-onset neonatal sepsis and provide a scientific basis for strategies of early-onset neonatal sepsis prevention. A 1:4 matched case-control study was adopted and 147 cases of early-onset neonatal sepsis were enrolled. Conditional logistic regression model was used to analyze the univariate and multivariate data to estimate the odds ratio (OR) and the 95% confidence interval (95% CI). Univariate analysis shows that the impact factors on the occurrence of early-onset neonatal sepsis include the following: Maternal age > 35, mother having fixed occupation, mother of urban residence, abnormal fetal position, fetal times, parity, caesarean section, premature rupture of membranes, amniotic fluid volume abnormalities, pregnancy-induced hypertension, placental abnormalities, fetal distress, newborn gender, low birth weight infants, neonatal Apgar scoring at one and five minutes, neonatal jaundice, wet lung, anemia, IVH, and premature infant. Multivariate logistic regression analysis showed that maternal age > 35 (OR = 4.835, OR 95% CI = 1.170-19.981), cesarean section (OR = 0.103, OR 95% CI = 0.041-0.258), premature rupture of membranes (OR = 0.207, OR 95% CI = 0.078-0.547), premature infants (OR = 0.059, OR 95% CI = 0.010-0.329) and newborn jaundice (OR = 0.092, OR 95% CI = 0.021-0.404) were the factors of early-onset neonatal sepsis. Early-onset neonatal sepsis could be affected by multi-factors, and targeted prevention may reduce the incidence of early-onset neonatal sepsis rates.

  6. PREVALENCE AND SUSCEPTIBILITY PATTERN OF E. COLI IN LOW BIRTH WEIGHT NEONATES OF EARLY ONSET SEPSIS

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    R. Singh et al.

    2011-12-01

    Full Text Available Neonatal sepsis is one of the commonest cause of neonatal mortality in the developing world which can be classified into early onset sepsis (EOS which occurs in the first 7 days of life and late onset sepsis (LOS which occurs ≥7 days of life. E. coli has been reported to be one of the significant and most common nosocomial pathogen which may cause septicemia, pneumonia and meningitis in the newborn. Most of the antibiotics which have been used extensively as life saving are rendered useless because of the emergence of resistant strains of bacterias. Therefore for determining the prevalence and antimicrobial susceptibility pattern of E. coli which is responsible for EOS and LOS and to establish the relationship with birth weight, a total of 229 blood samples were obtained from the neonates admitted to neonatal intensive care unit (NICU who showed the clinical signs and symptoms of neonatal sepsis and sent for culture and sensitivity. Out of these 229, 102 showed the positive culture, among which early onset sepsis was found in 80 neonates while late onset sepsis was diagnosed in 22 neonates. The most frequent pathogen isolated from positive blood culture was E. coli (66.66% and it was also the most common pathogen in low birth weight and preterm neonates of both early (59 cases- 57.84% and late-onset (9 cases- 8.82% sepsis and the incidence was found higher in early onset sepsis. The isolate was completely resistant to vancomycin and the resistance was higher for monotherapy of semi-synthetic penicillin group of antibiotics than their combination therapy with sulbactum. Imepenam and gatifloxacin showed the highest sensitivity (100%, followed by Piperacillin - tazobactum and ciprofloxacin, however the frequency of resistance was more common in low birth weight neonates of early onset sepsis.

  7. Pantoea species causing early onset neonatal sepsis: a case report.

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    Tiwari, Shreekant; Beriha, Siba Shankar

    2015-09-04

    Pantoea agglomerans is a plant pathogen which very rarely causes an opportunistic infection. Human beings are usually infected by thorn prick injuries or by contaminated parenteral fluids. Pantoea agglomerans has been reported as a cause of neonatal sepsis very rarely and to the best of our knowledge this is the first reported case from India. A 4-day-old Asian baby boy from the rural area of Odisha, India, was admitted to our neonatal intensive care unit when he presented with fever, tachypnea and chest retraction. Pantoea species were isolated from his blood culture. He was treated successfully with meropenem administered intravenously and other supportive measures. Early detection and proper management may cause a favorable outcome.

  8. The Role of Pancreatic Stone Protein in Diagnosis of Early Onset Neonatal Sepsis

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    Anwar A. Rass

    2016-01-01

    Full Text Available Introduction. Early diagnosis and treatment of neonatal sepsis may help decrease neonatal mortality. Aim of the Study. To evaluate the role of pancreatic stone protein as a marker for early onset neonatal sepsis. Methods. A hospital-based prospective study was conducted on 104 (52 uninfected and 52 infected neonates admitted to the Neonatal Intensive Care Unit (NICU of Zagazig University hospitals during the period from April 2014 to April 2015. All newborns were subjected to full history taking, careful neonatal assessment, blood, C-reactive protein (CRP, and serum pancreatic stone protein. Results. Serum PSP levels were significantly higher in the infected group than in the uninfected group. At a cutoff level of PSP 12.96 ng/mL, the sensitivity was 96.2%, the specificity was 88.5%, positive predictive value was 95.8%, negative predictive value was 89.3%, and area under the curve was 0.87. A significant positive correlation between CRP and PSP was found in infected group. Conclusion. The high negative predictive value of PSP (89.3% indicates that the serum PSP level is a good marker for diagnosis of early onset neonatal sepsis and can be used to limit hospital stay and antibiotic use in neonates treated for suspected sepsis.

  9. Recognising early onset neonatal sepsis: an essential step in appropriate antimicrobial use.

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    van Herk, Wendy; Stocker, Martin; van Rossum, Annemarie M C

    2016-07-05

    Early diagnosis and timely treatment of early onset neonatal sepsis (EOS) are essential to prevent life threatening complications. Subtle, nonspecific clinical presentation and low predictive values of biomarkers complicate early diagnosis. This uncertainty commonly results in unnecessary and prolonged empiric antibiotic treatment. Annually, approximately 395,000 neonates (7.9% of live term births) are treated for suspected EOS in the European Union, while the incidence of proven EOS varies between 0.01 and 0.53 per 1000 live births. Adherence to guidelines for the management of suspicion of EOS is poor. Pragmatic approaches to minimise overtreatment in neonates with suspected EOS, using combined stratified risk algorithms, based on maternal and perinatal risk factors, clinical characteristics of the neonate and sequential biomarkers are promising. Copyright © 2016 The British Infection Association. Published by Elsevier Ltd. All rights reserved.

  10. Early onset neonatal sepsis due to Morganella morganii.

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    Dutta, Sourabh; Narang, Anil

    2004-11-01

    Two neonates, both 32-weekers, developed Morganella morganii sepsis on the first day of life. They presented within a day of each other, primarily with respiratory signs. In both cases there was a history of spontaneous premature rupture of membranes, exposure to a single dose of ampicillin ante-partum, and similar antibiograms. No common source could be identified.

  11. Tumor necrosis factor-alpha and interleukin-6 in early-onset neonatal sepsis

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    Prambudi Rukmono

    2016-05-01

    Full Text Available Background Neonatal sepsis remains a major cause of mortality and morbidity in newborns. Early-onset neonatal sepsis occurs in infants under the age of 72 hours, while late-onset neonatal sepsis occurs in infants over the age of 72 hours and may be due to nosocomial infection. Diagnosing neonatal sepsis is a challenge, as its clinical symptoms are not clear. Corroborating tests include routine blood, C-reactive protein (CRP, serology, tumor necrosis factor-alpha (TNF-α, and interleukin-6 (IL-6 examinations.Objective To compare the TNF-α and IL-6 levels in patients with proven and unproven early-onset neonatal sepsis (EONSMethods This case-control study was done in the Perinatology Unit, Abdul Moeloek Hospital, Lampung. Subjects were under the age of 72 hours with risk factors and clinical symptoms of sepsis. They underwent routine blood tests and blood cultures. Infants with positive cultures were considered to have proven sepsis (26 subjects and infants with negative blood cultures were considered to have unproven sepsis (26 subjects. All subjects underwent serological examinations of TNF-α and IL-6.Results There were no differences in the basic characteristics of subjects between the two groups. Levels of TNF-α in the sepsis group were significantly higher than in the unproven group [(28.30 vs. 10.96 pg/mL, respectively (P=0.001]. Furthermore, Il-6 was significantly higher in the proven sepsis group than in the unproven sepsis group [(28.3 vs. 9.69 pg/mL, respectively (P=0.006].Conclusion Levels of TNF-alpha and IL-6 are significantly higher in infants with proven than unproven early-onset neonatal sepsis.

  12. Fatores de risco para o desenvolvimento de sepse neonatal precoce em hospital da rede pública do Brasil Risk factors for early-onset neonatal sepsis in Brazilian public hospital short-title: early-onset neonatal sepsis

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    Ana Paula Goulart

    2006-06-01

    Full Text Available JUSTIFICATIVA E OBJETIVOS: O conhecimento dos fatores de risco associados à sepse neonatal precoce em unidade de neonatologia, inserida na realidade de nosso sistema de saúde, no sentido de se detectar, prevenir e adotar medidas específicas e reduzir as taxas de mortalidade nessa faixa etária. O objetivo deste estudo foi determinar os fatores de risco associados a sepse neonatal precoce em hospital de referência em neonatologia ligado à rede pública de saúde. MÉTODO: Foi realizado um estudo observacional, prospectivo, tipo caso-controle. Foram incluídos os recém-nascidos com diagnóstico de sepse precoce e como controle, recém-nascidos sem infecção neonatal nascido na mesma data do recém-nascido considerado como caso. Foram incluídos 50 casos e três controles para cada caso, resultando em amostra total de 200 pacientes. Foi considerada estatisticamente significativa a associação quando p BACKGROUND AND OBJECTIVES: The determination of the risk factors to early-onset neonatal sepsis in our country is essential to prevent and reduce the mortality associated with this syndrome. Thus, the objective of this study was to determine the frequency and associated risk factors to early-onset neonatal sepsis in public hospital in Southern Brazil. METHODS: Observational, case-control study. Were included neonates with diagnostic of early-onset neonatal sepsis and as controls, neonates without neonatal infection. Were included 50 cases and 3 controls for each case resulting in a total sample of 200 patients. Associations were considered significant when p < 0.05. RESULTS: The sepsis frequency was 50.3 per 1000 born-alive. Risk factors associated to the development of neonatal sepsis were prematurity (OR 9.33; p < 0.001, low birth weight (OR 11.74; p < 0.001, maternal infection (OR 2.28; p = 0.009, mother with history of previous infant with neonatal sepsis (OR 6.43; p = 0.035 and rupture of the membranes more than 18 hours before delivery

  13. A Survey on Current Practice of Management of Early Onset Neonatal Sepsis.

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    Dey, A C; Hossain, M I; Afroze, S; Dey, S K; Mannan, M A; Shahidullah, M

    2016-04-01

    It was a survey type of cross sectional study where the participants were from different teaching/referral hospital across the country and was done to gather information regarding current practice of management of neonatal sepsis among paediatricians and neonatologists and was conducted on the spot during a national conference of Bangladesh Perinatal Society in December 2013. Specialists in neonatology, paediatrics, and some other disciplines working in different institutes across the country were requested to respond. Out of 150 physicians, 92 (61.33%) were neonatologists. Physicians suspected early onset neonatal sepsis (EONS) when there is history suggestive of prolonged rupture of membrane (74.77%), prolonged labour (9.33%), chorioamnionitis (7.33%) and maternal fever (2%). Clinical sepsis is found commonly (53.33%) which is later proved by laboratory evidences such as Hb%, TC, DC PBF (peripheral blood film), C-reactive protein, chest X-ray etc. Injection Ampicillin and Gentamycin are still the first choice of antibiotics (61.3%). Preferred route was intravenous (95.3%). Antibiotics were given for 7-10 days by most of the physicians (48.77%). However there is lack of uniformity among the participants in regard to taking decision about antibiotics, the choice of first line and the subsequent options of antibiotics. So, neonatal sepsis is the most important cause of neonatal mortality in the community. Therefore a standard protocolized approach for diagnosis and management of Early Onset Neonatal Sepsis may prove critical which is currently not in practice uniformly.

  14. Early Liver Transplantation for Neonatal-Onset Methylmalonic Acidemia.

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    Spada, Marco; Calvo, Pier Luigi; Brunati, Andrea; Peruzzi, Licia; Dell'Olio, Dominic; Romagnoli, Renato; Porta, Francesco

    2015-07-01

    With conventional dietary treatment, the clinical course of methylmalonic acidemia due to cobalamin-unresponsive methylmalonyl-CoA mutase (MCM) deficiency is characterized by the persistent risk of recurrent life-threatening decompensation episodes with metabolic acidosis, hyperammonemia, and coma. Liver transplant has been proposed as an alternative treatment and anecdotally attempted in the last 2 decades with inconsistent results. Most criticisms of this approach have been directed at the continuing risk of neurologic and renal damage after transplant. Here, we report the perioperative and postoperative clinical and biochemical outcomes of 2 patients with severe MCM deficiency who underwent early liver transplant. In both cases, liver transplant allowed prevention of decompensation episodes, normalization of dietary protein intake, and a marked improvement of quality of life. No serious complications have been observed at 12 years' and 2 years' follow-up, respectively, except for mild kidney function impairment in the older patient. On the basis of our experience, we strongly suggest that liver transplant should be offered as a therapeutic option for children with cobalamin-unresponsive MCM deficiency at an early stage of the disease.

  15. Comparative Assessment of Cytokine Pattern in Early and Late Onset of Neonatal Sepsis.

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    Khaertynov, Kh S; Boichuk, S V; Khaiboullina, S F; Anokhin, V A; Andreeva, A A; Lombardi, V C; Satrutdinov, M A; Agafonova, E A; Rizvanov, A A

    2017-01-01

    Neonatal sepsis is a significant health issue associated with high mortality. Immune responses associated with neonatal sepsis, such as proinflammatory cytokine production, are believed to play a central role in the pathogenesis of this disease. In the present study, serum levels of the proinflammatory cytokines TNF-α, IL1-β, and IL-6 and the anti-inflammatory cytokines IL-4 and IL-10 were evaluated for 25 subjects with neonatal sepsis. We observed that subjects with late onset of sepsis (LOS), as well as those with early onset of sepsis (EOS), had a substantial increase in serum TNF-α. In contrast to EOS, subjects with LOS demonstrated a significant increase in serum levels IL-6 and IL-10. Additionally, we observed a significant difference in cytokine profiles between acute and postacute cases of neonatal sepsis. For instance, the level of proinflammatory cytokines, such as TNF-α and IL-6, was elevated in the acute phase, whereas the production of anti-inflammatory cytokines, such as IL-10, became substantially upregulated during the postacute phase. Additionally, no correlation was observed between cytokine levels and CRP levels or lymphocyte counts. Thus, in contrast to CRP levels and lymphocyte counts, examination of the cytokine profile can provide valuable information when determining the most effective therapy for treating neonatal sepsis. This information may be useful to physicians when determining if anti-inflammatory or immune stimulatory therapy is warranted.

  16. Comparative Assessment of Cytokine Pattern in Early and Late Onset of Neonatal Sepsis

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    Kh. S. Khaertynov

    2017-01-01

    Full Text Available Neonatal sepsis is a significant health issue associated with high mortality. Immune responses associated with neonatal sepsis, such as proinflammatory cytokine production, are believed to play a central role in the pathogenesis of this disease. In the present study, serum levels of the proinflammatory cytokines TNF-α, IL1-β, and IL-6 and the anti-inflammatory cytokines IL-4 and IL-10 were evaluated for 25 subjects with neonatal sepsis. We observed that subjects with late onset of sepsis (LOS, as well as those with early onset of sepsis (EOS, had a substantial increase in serum TNF-α. In contrast to EOS, subjects with LOS demonstrated a significant increase in serum levels IL-6 and IL-10. Additionally, we observed a significant difference in cytokine profiles between acute and postacute cases of neonatal sepsis. For instance, the level of proinflammatory cytokines, such as TNF-α and IL-6, was elevated in the acute phase, whereas the production of anti-inflammatory cytokines, such as IL-10, became substantially upregulated during the postacute phase. Additionally, no correlation was observed between cytokine levels and CRP levels or lymphocyte counts. Thus, in contrast to CRP levels and lymphocyte counts, examination of the cytokine profile can provide valuable information when determining the most effective therapy for treating neonatal sepsis. This information may be useful to physicians when determining if anti-inflammatory or immune stimulatory therapy is warranted.

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

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    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.

  18. [A study on early-onset group "B" streptococcal neonatal infection].

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    Vacheva, R; Todorova, M; Decheva, A; Yarakova, N; Kraleva, I; Takova, Ts; Dimitrova, N; Dobreva, A

    2012-01-01

    The results achieved with 80% reduction in the incidence of early-onset neonatal group B streptococcal (GBS) sepsis following the implementation of the preliminary (1996, 2002) and subsequently the revised (2010) guidelines for intrapartum antibiotic prophylaxis imposed the discussion on a large scale of the updated:--algorithms for GBS screening (35-37 weeks of gestation) with the recommended dosage of penicillin-G for intrapartum antibiotic prophylaxis for women having normal labor and delivery;--algorithms for GBS screening and intrapartum antibiotic prophylaxis for women with preterm labor (PPROM) or premature rupture of membranes (PROM);--intrapartum antibiotic prophylaxis regimens for women with penicillin allergy;--algorithm for management of newborns with respect to risk of early-onset GBS disease. The present study is aimed at studying the distribution of the early-onset GBS disease in our country based on the data of leading obstetrics & gynecology clinics and wards. The aim is to diferrentiate clinically the cases and investigate the influence of the known risk factors on the part of the mother. A special accent is put over the microbiological diagnostics of cases in view of CDC expanded recommendations on the laboratory methods for identification of GBS. As a final conclusion the necessity for introduction of an official registration of the early- and late-onset GBS disease in the country is emphasized.

  19. Management of early onset neonatal sepsis differs in the north and south of Scandinavia

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    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...... was the most frequently detected pathogen in 11 cases (31%), followed by Group B streptococci in nine (26%) and Escherichia coli in six (17%). In 85% of the 238 cases the empiric therapy comprised gentamicin and a beta-lactam, namely ampicillin in Denmark and benzylpenicillin in Norway. Patients with positive...... 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...

  20. Early-onset neonatal group B streptococcus sepsis following national risk-based prevention guidelines.

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    Darlow, Brian A; Voss, Lesley; Lennon, Diana R; Grimwood, Keith

    2016-02-01

    Neonatal infection with group B streptococcus (GBS) is an important cause of infant mortality. Intrapartum antibiotics reduce early-onset GBS sepsis, but recommendations vary as to whether they should be offered following antenatal screening or based on risk factors alone. We aimed to determine the incidence of early-onset GBS sepsis in New Zealand five years after the publication of national risk-based GBS prevention guidelines. Prospective surveillance of early-onset GBS sepsis (defined as infection in the first 48 h of life) was undertaken between April 2009 and March 2011 through the auspices of the New Zealand Paediatric Surveillance Unit as part of a survey of infection presenting in the first week of life. There were 29 cases of confirmed early-onset GBS sepsis, including one case of meningitis, giving an incidence rate of 0.23 per 1000 (95% CI 0.16-0.33) live births. Three infants (10.3%) died. In 16 cases (55%), a maternal risk factor qualifying the mother for intrapartum antibiotics was present, but only five (31%) received this intervention. A retrospective review of the major hospital laboratory databases for this period identified two additional cases. A secondary sensitivity analysis taking account of these cases provided an estimated national incidence of 0.26 (95% CI 0.18-0.37) per 1000 live births. Ten years after a similar survey and five years after promoting a single, risk-based prevention protocol nationally, the incidence of early-onset GBS disease in New Zealand has more than halved, but opportunities remain to further reduce the rate. © 2015 The Royal Australian and New Zealand College of Obstetricians and Gynaecologists.

  1. A study on early-onset neonatal group B streptococcal infection, Bulgaria, 2007-2011.

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    Todorova-Christova, M; Vacheva, R; Decheva, A; Nikolov, A; Slancheva, B; Stoichkova, D; Christova, E; Shopova, E; Hitrova, S; Masseva, A; Yarakova, N; Kraleva, I; Takova, T S; Dimitrova, N; Dobreva, A

    2014-09-01

    This study examines neonatal group B streptococcal (GBS) colonization and its relation to early-onset GBS disease (EOGBSD), based upon the experience of leading obstetrics and gynecology centers in Bulgaria. The objectives of the study were to update neonatal colonization rates and to assess relationships between clinically differentiated cases (culture-proven GBS newborns) and risk factors inherent to the infant and mother, using a computerized file. The neonatal GBS colonization rate ranged from 5.48 to 12.19 per 1000 live births. Maternal-fetal infection (MFI, a provisional clinical diagnosis in culture-proven colonized infants with initial signs of infection that is usually overcome with antibiotic treatment) and/or intrapartum asphyxia (IA) have been demonstrated as the most frequent clinical manifestations, with significant correlations for the primary diagnosis, but not affirmative for the final diagnosis at discharge, resulting from adequate treatment of neonates. MFI and IA were significantly related to prematurity, and reciprocally, prematurity was associated with the risk of MFI, indirectly suggesting that preterm birth or PPROM (preterm premature rupture of membranes, an obstetric indication associated with early labor and delivery, one of the major causes of preterm birth) is a substantial risk factor for EOGBSD. The regression analysis indicated that in the case of a newborn with MFI, a birth weight 593.58 g lower than the birth weight of an infant without this diagnosis might be expected. Testing the inverse relationship, i.e., the way birth weight influences a certain diagnosis (logistic regression) established the presence of a relationship between birth weight categories (degree of prematurity) and the diagnosis of MFI. The proportions and odds ratios, converted into probabilities that a baby would develop MFI, indicate the particularly high risk for newborns with extremely low and very low birth weight: extremely low birth weight (≤1000 g), the

  2. DIAGNOSTIC VALUE OF SIMULTANEOUS MEASUREMENT OF PROCALCITONIN, INTERLEUKIN-6 AND HS CRP IN PREDICTION OF EARLY-ONSET NEONATAL SEPSIS

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    alireza abdollahi

    2012-05-01

    Full Text Available Neonatal sepsis is a major cause of morbidities and mortalities mostly remarkable in the third world nations .We aimed to assess the value of simultaneous measurement of procalcitonin (PCT and interleukin-6 (IL-6 in association with high sensitive- C reactive protein in prediction of early neonatal sepsis. We performed a follow- up study on 95 neonates who were below 12 hours (h of age, had clinical signs of sepsis or maternal risk factors for sepsis. Neonates were assigned to 4 groups including “proven early-onset sepsis”, “clinical early-onset sepsis”, “negative infectious status”, and “uncertain infectious status”. Blood samples were obtained within the first 12 h of birth repeated between 24 hours and 36 hours of age for determination of serum levels of PCT, IL-6, high sensitivie- C Reactive Protein (hs-CRP, and white blood cell (WBC count. On admission, neonates with sepsis had a higher WBC count, IL-6, PCT, and hs-CRP levels compared with those neonates without sepsis. This remained significant even after 12-24 hours of admission. Also, patients with clinical evidences of sepsis had a higher serum level of PCT and IL-6 within 12-24 hours after admission compared to the patients with uncertain sepsis. In final The combination of IL-6, hs-CRP, and PCT seems to be predictive in diagnosis of early onset neonatal sepsis.

  3. Early-onset neonatal sepsis in Dhaka, Bangladesh: risk associated with maternal bacterial colonisation and chorioamnionitis.

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    Chan, Grace J; Baqui, Abdullah H; Modak, Joyanta K; Murillo-Chaves, Adriana; Mahmud, Abdullah A; Boyd, Theonia K; Black, Robert E; Saha, Samir K

    2013-09-01

    To estimate the risk of early-onset neonatal sepsis among newborns of mothers with chorioamnionitis and/or bacterial colonisation in Dhaka. We conducted a cohort study at a maternity centre following 600 mother-newborn pairs. Women with a positive bacterial vaginal culture or positive Group B streptococcus (GBS) rectal culture during labour were classified as colonised. Women with placental histopathology demonstrating signs of maternal or foetal inflammation were classified as having chorioamnionitis. Newborns were followed over the first 7 days of life. The primary outcome measure was physician or community health worker diagnosis of neonatal sepsis following modified World Health Organization Integrated Management of Childhood Illnesses criteria. Survival analysis was conducted with non-parametric, parametric and semiparametric models. Of the 600 mother-newborn pairs, 12.8% of newborns were diagnosed with early-onset sepsis. Five hundred and forty-three women had both colonisation and chorioamnionitis data, 55.4% of mothers were non-exposed, 31.7% were only colonised and 12.9% had chorioamnionitis regardless of colonisation status. After adjusting for birthweight, sex, maternal characteristics and wealth, newborns of only colonised mothers developed sepsis 63% faster and had a 71% higher risk of developing sepsis than their non-exposed counterparts (RT = 0.37, 95% CI 0.14-1.03; RH = 1.71, 95% CI 1.00-2.94). Newborns of mothers with chorioamnionitis developed sepsis 74% faster and had a 111% higher risk of developing sepsis (RT = 0.26, 95% CI 0.07-0.94; RH = 2.11, 95% CI 1.06-4.21). Newborns born to mothers with colonisation or chorioamnionitis developed sepsis faster and were at higher risk of developing sepsis in Dhaka. © 2013 John Wiley & Sons Ltd.

  4. Role of Innate Host Defenses in Susceptibility to Early Onset Neonatal Sepsis

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    Wynn, James L.; Levy, Ofer

    2010-01-01

    Neonatal sepsis continues to take a devastating toll globally. Although adequate to protect against invasive infection in most newborns, the distinct function of neonatal innate host defense coupled with impairments in adaptive immune responses, increases the likelihood of acquiring infection early in life with subsequent rapid dissemination and death. Unique differences exist between neonates and older populations with respect to the capacity, quantity, and quality of innate host responses to pathogens. Recent characterization of the age-dependent maturation of neonatal innate immune function has identified novel translational approaches that may lead to improved diagnostic, prophylactic and therapeutic modalities. PMID:20569810

  5. [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.

  6. Detection of cord blood hepcidin levels as a biomarker for early-onset neonatal sepsis.

    Science.gov (United States)

    Cizmeci, Mehmet Nevzat; Kara, Semra; Kanburoglu, Mehmet Kenan; Simavli, Serap; Duvan, Candan Iltemur; Tatli, Mustafa Mansur

    2014-03-01

    Early-onset neonatal sepsis (EONS) continues to be a severe condition associated with a high mortality and morbidity. However, symptoms and laboratory markers of this serious condition are nonspecific and currently there are no available standard tests to provide perfect diagnostic accuracy. An early recognition and initiation of antimicrobial therapy are essential in order to prevent morbidity and mortality. Hepcidin, the key regulator of iron homeostasis, is also an acute-phase reactant, which has a critical role in inflammation and contributes to host defense by interfering with microorganism's access to iron. Since hepcidin expression is induced by interleukin-6 (IL-6), it also plays role in the innate immune system. Recently, endogenous expression of hepcidin by macrophages and neutrophils in response to bacterial pathogens confirmed its role in innate immunity. The clear link between the hepcidin molecule and innate immunity may be used for the detection of EONS. We hypothesized that an increased level of hepcidin in cord blood may be used as a reliable biological marker of EONS and designed a prospective cohort study to test this hypothesis and collected pilot data. Cord blood samples of all infants born between January 2009 and December 2010 at our university hospital were collected after parental consent and a total of 38 infants were enrolled in the study who fulfilled the sepsis criteria. The range of cord blood hepcidin was found to be significantly increased in newborns with EONS (min-max: 118.1-8400 ng/mL). To the best of our knowledge, this is the first study to investigate the pathophysiologic relevance of hepcidin in EONS and demonstrate increased levels of hepcidin in cord blood as an acute-phase reactant in response to sepsis. Copyright © 2013 Elsevier Ltd. All rights reserved.

  7. Urinary (1)H-NMR and GC-MS metabolomics predicts early and late onset neonatal sepsis.

    Science.gov (United States)

    Fanos, Vassilios; Caboni, Pierluigi; Corsello, Giovanni; Stronati, Mauro; Gazzolo, Diego; Noto, Antonio; Lussu, Milena; Dessì, Angelica; Giuffrè, Mario; Lacerenza, Serafina; Serraino, Francesca; Garofoli, Francesca; Serpero, Laura Domenica; Liori, Barbara; Carboni, Roberta; Atzori, Luigi

    2014-03-01

    The purpose of this article is to study one of the most significant causes of neonatal morbidity and mortality: neonatal sepsis. This pathology is due to a bacterial or fungal infection acquired during the perinatal period. Neonatal sepsis has been categorized into two groups: early onset if it occurs within 3-6 days and late onset after 4-7 days. Due to the not-specific clinical signs, along with the inaccuracy of available biomarkers, the diagnosis is still a major challenge. In this regard, the use of a combined approach based on both nuclear magnetic resonance ((1)H-NMR) and gas-chromatography-mass spectrometry (GC-MS) techniques, coupled with a multivariate statistical analysis, may help to uncover features of the disease that are still hidden. The objective of our study was to evaluate the capability of the metabolomics approach to identify a potential metabolic profile related to the neonatal septic condition. The study population included 25 neonates (15 males and 10 females): 9 (6 males and 3 females) patients had a diagnosis of sepsis and 16 were healthy controls (9 males and 7 females). This study showed a unique metabolic profile of the patients affected by sepsis compared to non-affected ones with a statistically significant difference between the two groups (p = 0.05). Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  8. Epidemiologic features of early onset sepsis in neonatal ward of Shabih Khani hospital in Kashan

    Directory of Open Access Journals (Sweden)

    Ziba Mosayebi

    2015-02-01

    Full Text Available Background and objective: Neonatal sepsis is defined as presence of clinical signs accompanied by positive blood culture in newborns less than one month of age. Sepsis is a common cause of hospital admission in neonates, and it is known as one of the main causes of mortality among them, not only in developed countries but in developing ones. Delay in diagnosis and appropriate antibiotic therapy would result in death. The aim of this study is to find the main pathogens of sepsis and evaluate sensitivity changes of organisms to antibiotics in comparison with the past. Method: In this descriptive study, 104 (files of neonates, admitted to the neonatal ward of Shabih Khani Hospital, with positive blood culture over a 24-month period ( 2005-2007 were assessed. Data were extracted for analysis. Results: Over this 24-month study on 104 neonates with sepsis, the most common organisms included flavobacterium 43.3% , pseudomonas 33.3%, coagulase negative staphylococcus 17.3%, coagulase positive staphylococcus 5.9% followed by enterobacter , E.coli, beta-haemolytic streptococcus, klebsiella, diphtheriod and lysteria. Conclusion: In this study Flavobacterium is found to be the most common organism for early sepsis. Although infection with flavobacterium is rare, its rate of mortality is high and it is resistant to majority of common antibiotics. Therefore, early diagnosis and appropriate antibiotic prescription helps reduce its complications.

  9. Risk of early-onset neonatal infection with maternal infection or colonization: a global systematic review and meta-analysis.

    Directory of Open Access Journals (Sweden)

    Grace J Chan

    2013-08-01

    Full Text Available Neonatal infections cause a significant proportion of deaths in the first week of life, yet little is known about risk factors and pathways of transmission for early-onset neonatal sepsis globally. We aimed to estimate the risk of neonatal infection (excluding sexually transmitted diseases [STDs] or congenital infections in the first seven days of life among newborns of mothers with bacterial infection or colonization during the intrapartum period.We searched PubMed, Embase, Scopus, Web of Science, Cochrane Library, and the World Health Organization Regional Databases for studies of maternal infection, vertical transmission, and neonatal infection published from January 1, 1960 to March 30, 2013. Studies were included that reported effect measures on the risk of neonatal infection among newborns exposed to maternal infection. Random effects meta-analyses were used to pool data and calculate the odds ratio estimates of risk of infection. Eighty-three studies met the inclusion criteria. Seven studies (8.4% were from high neonatal mortality settings. Considerable heterogeneity existed between studies given the various definitions of laboratory-confirmed and clinical signs of infection, as well as for colonization and risk factors. The odds ratio for neonatal lab-confirmed infection among newborns of mothers with lab-confirmed infection was 6.6 (95% CI 3.9-11.2. Newborns of mothers with colonization had a 9.4 (95% CI 3.1-28.5 times higher odds of lab-confirmed infection than newborns of non-colonized mothers. Newborns of mothers with risk factors for infection (defined as prelabour rupture of membranes [PROM], preterm <37 weeks PROM, and prolonged ROM had a 2.3 (95% CI 1.0-5.4 times higher odds of infection than newborns of mothers without risk factors.Neonatal infection in the first week of life is associated with maternal infection and colonization. High-quality studies, particularly from settings with high neonatal mortality, are needed to

  10. 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.

  11. Group B streptococcal immunisation of pregnant women for the prevention of early and late onset Group B streptococcal infection of the neonate as well as adult disease

    DEFF Research Database (Denmark)

    Kenchington, Anna L.; Lamont, Ronald F.

    2017-01-01

    or in the future, vaccination. Areas covered: The introduction of a vaccine to women in the third trimester is likely to further reduce the burden of disease and provide benefits beyond the prevention of early neonatal disease, including meningitis and disability following late onset disease. Development......Introduction: Early onset neonatal Group B streptococcal disease is preventable. Intrapartum antibiotic prophylaxis has resulted in a significant reduction in neonatal mortality and morbidity. National guidelines for the selection of women eligible for intrapartum antibiotic prophylaxis, whether...

  12. A three year descriptive study of early onset neonatal sepsis in a refugee population on the Thailand Myanmar border.

    Science.gov (United States)

    Turner, Claudia; Turner, Paul; Hoogenboom, Gabie; Aye Mya Thein, Naw; McGready, Rose; Phakaudom, Kawalee; De Zoysa, Aruni; Efstratiou, Androulla; Heath, Paul T; Nosten, François

    2013-12-21

    Each year an estimated four million neonates die, the majority in the first week of life. One of the major causes of death is sepsis. Proving the incidence and aetiology of neonatal sepsis is difficult, particularly in resource poor settings where the majority of the deaths occur. We conducted a three year observational study of clinically diagnosed early onset (neonatal sepsis (EONS) in infants born to mothers following antenatal care at the Shoklo Malaria Research Unit clinic in Maela camp for displaced persons on the Thailand-Myanmar border. Episodes of EONS were identified using a clinical case definition. Conventional and molecular microbiological techniques were employed in order to determine underlying aetiology. From April 2009 until April 2012, 187 infants had clinical signs of EONS, giving an incidence rate of 44.8 per 1000 live births (95% CI 38.7-51.5). One blood culture was positive for Escherichia coli, E. coli was detected in the cerebrospinal fluid specimen in this infant, and in an additional two infants, by PCR. Therefore, the incidence of bacteriologically proven EONS was 0.7 per 1000 live births (95% CI 0.1-2.1). No infants enrolled in study died as a direct result of EONS. A low incidence of bacteriologically proven EONS was seen in this study, despite a high incidence of clinically diagnosed EONS. The use of molecular diagnostics and nonspecific markers of infection need to be studied in resource poor settings to improve the diagnosis of EONS and rationalise antibiotic use.

  13. Implementation of a cost-effective strategy to prevent neonatal early-onset group B haemolytic streptococcus disease in the Netherlands

    NARCIS (Netherlands)

    Kolkman, D.G.E.; Rijnders, M.E.B.; Wouters, M.G.A.J.; Akker-van Marle, M.E. van den; Ploeg, K. van der; Groot, C.J.M. de; Fleuren, M.A.H.

    2013-01-01

    Early-onset Group B haemolytic streptococcus infection (EOGBS) is an important cause of neonatal morbidity and mortality in the first week of life. Primary prevention of EOGBS is possible with intra-partum antibiotic prophylaxis (IAP.) Different prevention strategies are used internationally based o

  14. Implementation of a cost-effective strategy to prevent neonatal early-onset group B haemolytic streptococcus disease in the Netherlands

    NARCIS (Netherlands)

    Kolkman, D.G.E.; Rijnders, M.E.B.; Wouters, M.G.A.J.; Akker-van Marle, M.E. van den; Ploeg, K. van der; Groot, C.J.M. de; Fleuren, M.A.H.

    2013-01-01

    Early-onset Group B haemolytic streptococcus infection (EOGBS) is an important cause of neonatal morbidity and mortality in the first week of life. Primary prevention of EOGBS is possible with intra-partum antibiotic prophylaxis (IAP.) Different prevention strategies are used internationally based

  15. Maternal and neonatal risk factors for early-onset group B streptococcal disease: a case control study

    Directory of Open Access Journals (Sweden)

    Al-Kadri HM

    2013-10-01

    Full Text Available Hanan M Al-Kadri,1 Samira S Bamuhair,2 Sameera M Al Johani,3 Namsha A Al-Buriki,1 Hani M Tamim4 1Department of Obstetrics and Gynecology, 2Department of Basic Medical Sciences, 3Microbiology Division, 4Department of Medical Education, College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Kingdom of Saudi Arabia Objectives: To identify the prominent maternal and neonatal risk factors associated with early-onset group B streptococcus (EOGBS disease in neonates and to determine their importance by comparing them with a control group. Setting: Neonatal unit at King Abdulaziz Medical City, Riyadh, Kingdom of Saudi Arabia. Patients: Cases were infants <7 days of age with invasive group B streptococcus (GBS disease diagnosed between January 1, 2000 and December 31, 2009. Controls were healthy infants born in the same hospital during the same period having the same birth weight and gestational age category. Main outcome measures: Maternal risk factors for developing EOGBS disease, feto–maternal and neonatal clinical data, their morbidities, mortalities, and length of hospital stay. Results: A total of 99 cases and 200 controls were included. The majority of cases presented in the first 72 hours of life (62/99 [63.9%], of which 87/99 (89.7% had at least one clinical risk factor for the development of EOGBS disease. Mothers of neonates with EOGBS disease were more likely to have GBS bacteriuria (odds ratio [OR] 10.76, 95% confidence interval [CI] 1.24–93.42, infection in the peripartum period (OR 8.92, CI 2.87–27.68, and temperature ≥38°C (OR 7.10, CI 2.50–20.17. GBS disease was associated with premature rupture of membranes and fetal tachycardia (P<0.01 for both. Neonates with EOGBS disease were more likely to have respiratory distress disease and convulsions, require tube feeding, and have longer hospital stays compared with the controls (P<0.01 for all. Stepwise multiple logistic

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

    Science.gov (United States)

    Palac, Hannah L.; Yogev, Ram; Ernst, Linda M.; Mestan, Karen K.

    2017-01-01

    Background 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. Methods 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. 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. Conclusion 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

  17. 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 (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.

  18. Incidence and distribution of pathogens in early-onset neonatal sepsis in the era of antenatal antibiotics.

    Science.gov (United States)

    Kuhn, Pierre; Dheu, Céline; Bolender, Chantal; Chognot, Didier; Keller, Laurence; Demil, Houria; Donato, Lionel; Langer, Bruno; Messer, Jean; Astruc, Dominique

    2010-09-01

    In 2001 France issued a new set of guidelines for the use of antenatal antibiotics (AA). These guidelines recommended intrapartum antimicrobial prophylaxis (IAP) to prevent group B streptococcal (GBS) disease and AA to prolong pregnancy in the event of preterm premature rupture of membranes (AA for PPROM). This study aims to determine the effects of AA, recommended by national guidelines, on the incidence and distribution of pathogens in early-onset neonatal sepsis (EONS). We performed a population-based, prospective, observational study of level II and III perinatal centres throughout the region of Alsace, a northeastern area of France, between March 2004 and February 2005. The study population included all neonates with confirmed or probable EONS, who were treated with antibiotics for at least 5 days. We analysed exposure to AA, as well as clinical and microbiological data obtained from medical records. A total of 20 131 neonates were born during the study period, and 217 were included in the study. Of these, 24 subjects had confirmed sepsis, 140 had probable sepsis and 53 had possible EONS. The overall incidence of confirmed EONS was 1.19 per 1000 births. The infecting bacteria was GBS in 15 of 24 (62.5%) confirmed EONS cases (incidence: 0.75 per 1000 births) and in 81 of 140 (58%) probable sepsis cases. Escherichia coli was identified in 6 of 24 (25%) cases of confirmed EONS (incidence: 0.3 per 1000 births) and in 30 of 140 (21%) cases of clinical sepsis. Among E. coli infections (n= 36), amoxicillin resistance (n= 18) was statistically linked with AA use (P = 0.045). This link was significant in cases of PPROM (P = 0.015), but not when IAP was administered to prevent GBS disease (P = 0.264). IAP was not performed in 18 of 60 (30%) cases and 32 of 93 (34%) cases, despite positive screening or the presence of risk factors for EONS, respectively. Group B streptococcus remains the predominant pathogen in the era of AA. Aminopenicillin-resistant E. coli infections

  19. A comparison of neutrophil gelatinase-associated lipocalin and immature to total neutrophil ratio for diagnosing early-onset neonatal sepsis

    Directory of Open Access Journals (Sweden)

    Rocky Wilar

    2016-07-01

    Full Text Available Background Neonatal sepsis is a clinical syndrome caused by the invasion of microorganisms into the bloodstream. Early diagnosis of early-onset neonatal sepsis (EONS is difficult. Laboratory tests with high sensitivity and specificity are needed in order to make early diagnoses in newborns.Objective To compare the sensitivity and specificity of neutrophil gelatinase-associated lipocalin (NGAL and immature to total (IT neutrophil ratio for the diagnosis of early-onset neonatal sepsis.Methods This observational study with cross-sectional design was conducted in the Neonatology Division, Prof. R. D. Kandou General Hospital from November 2012 to April 2014. Consecutive sampling was applied. There were 103 newborns with suspected EONS who fulfilled the inclusion criteria. Complete blood counts, blood cultures, as well as NGAL and IT ratio measurements were performed.Results NGAL was not significantly more sensitive than IT ratio [80.4% vs. 67.3%, respectively; (P=0.058]. However, NGAL had lower specificity than IT ratio (27.7% vs. 50.0%, respectively; P=0.016. The positive predictive values (57.0% vs. 64.9%, respectively; P=0.176, and negative predictive values (54.2% vs. 52.6%, respectively; P=0.451 were similar in both diagnostic tests.Conclusion Immature to total neutrophil (IT ratio has higher specificity compared to NGAL for early diagnosis of EONS. However, the difference in sensitivity between the two test is not statistically significant.

  20. To Investigate the Early-onset and Late-onset Neonatal Sepsis Clinical Features%探讨新生儿早发型与晚发型败血症临床特征

    Institute of Scientific and Technical Information of China (English)

    周炎娟; 张磊

    2015-01-01

    Objective To investigate the clinical characteristics of early onset and late onset neonatal sepsis. Methods Our hospi-tal in June 2012-June 2013 period were treated 66 cases of neonatal sepsis in the study, according to all the children born of dif-ferent ages will be divided into early-onset group (34 cases) and late-onset group (32 cases), and compared the two groups of children with clinical features. Results A group of children with early-onset sepsis often full-term children, the late-onset group often premature delivery or low birth weight infants;early-onset group, 13 cases of major pathogenic Escherichia coli and group B streptococci in 11 cases, late hairstyle group mostly Klebsiella pneumoniae and Escherichia coli nine cases 10 cases.Conclusion Motherhood Maternity active before GBS screening and Escherichia coli, and E. coli test positive maternal GBS and the prophylac-tic use of antibiotics in advance, would be beneficial to reduce the early onset neonatal sepsis.%目的:探讨新生儿早发型和晚发型败血症的临床特征。方法选取该院2012年6月-2013年6月时间段内收治的全部66例败血症新生儿作为研究对象,按照所有患儿出生年龄的不同将其分为早发型组(34例)和晚发型组(32例),并比较两组患儿的临床特征。结果早发型组中败血症患儿常为足月儿,晚发型组常为早产或极低体重患儿;早发型组中主要致病菌为大肠埃希菌13例和B族链球菌11例,晚发型组中多为肺炎克雷伯菌10例和大肠埃希菌9例。结论孕产妇产前积极进行GBS和大肠埃希菌的筛查,并对GBS和大肠埃希菌检查阳性产妇提前预防使用抗生素,将有益于降低早发型新生儿败血症。

  1. Analysis of Perinatal Factors of Early Onset Neonatal Pathologic Pneumothorax%早期新生儿病理性气胸的围生因素分析

    Institute of Scientific and Technical Information of China (English)

    黄小艺; 刘志伟

    2012-01-01

    目的 分析早期新生儿病理性气胸的围生因素.方法 收集2005年1月-2011年2月本院病理性气胸患儿38例(病例组),按1∶3的比例,选择病例组住院号连续3份相同孕周产科分娩新生儿为对照组,对其临床资料进行回顾分析,分析发生病理性气胸的围生因素.结果 早期新生儿病理性气胸占同期活产儿比例即发病率为0.25‰(38/150 575例).肺部基础疾病包括肺炎(7.9%)和湿肺(92.1%)2种.经保守治疗和胸腔穿刺或引流后痊愈.病例组63.2%的患儿孕周<39周.病例组剖宫产娩出率(73.7%)、男童比例(81.6%)、羊水混浊率(34.2%)均显著高于对照组(Pa<0.05).Logistic回归分析显示:男童、羊水混浊、剖宫产是增加7d内新生儿发生气胸的危险因素,OR值(95% CI)分别为5.585(2.169~ 14.382)、3.431(1.336 ~8.811)、3.294(1.356 ~8.001).结论 湿肺是引起新生儿病理性气胸的原因之一,剖宫产是早期新生儿发生病理性气胸的重要危险因素.产科医师应严格控制选择性剖宫产率,尽可能在39周后进行选择性剖宫产,儿科医师对合并肺部并发症的新生儿出生48 h内严密观察病情,及时随访胸片,及早诊治病理性气胸.%Objective To analyze the perinatal factors of early onset neonatal pathologic pneumothorax. Methods Retrospective case control study,38 infants diagnosed as early onset neonatal pathologic pneumothorax from Jan. 2005 to Feb. 2011 were selected as case group. Each case were matched with 3 neonates with same gestational age according to medical record number (control group). Clinical data were retrospectively analyzed. Results The incidence of early onset neonatal pathologic pneumothorax was 0. 25%e( 38/150 575 cases). Underlying diseases of pathologic pneumothorax were pneumonia( 7.9% ) and wet lung( 92. 1 % ). All cases were recovered after conservative medical management or pleurocentesis and thoracic drainage. Gestational age of case

  2. Study of early-onset and late-onset neonatal sepsis%新生儿早发型与晚发型败血症临床特征

    Institute of Scientific and Technical Information of China (English)

    刘志伟; 唐征; 丁艳; 黄小艺

    2011-01-01

    目的 分析新生儿败血症发生率、致病菌及药敏、血象特点、临床特征和病死率.方法 1999年1月至2008年12月出生并收入新生儿重症监护病房(NICU)的新生儿纳入研究.依据血培养阳性时间,将病例分为早发型( ≤生后7 d)和晚发型( >生后7 d)败血症.结果 66例新生儿共发生67次败血症,NICU新生儿败血症发生率为1.36%(66/4 860).早发型败血症新生儿多为足月儿,晚发型败血症多为极低体质量儿和早产儿(P < 0.05).早发型败血症新生儿中主要致病菌为大肠埃希菌(33.3%)和B族链球菌(GBS)(31.0%),晚发型败血症新生儿主要致病菌为肺炎克雷伯菌(32.0%)和大肠埃希菌(28.0%).早发型败血症新生儿的病死率(21.4%)高于晚发型败血症新生儿(4.2%).结论 大肠埃希菌和GBS是造成早发型败血症的主要致病菌,肺炎克雷伯菌和大肠埃希菌是造成晚发型败血症的致病菌.产前对孕妇进行GBS筛查以及对所有GBS阳性孕妇产时预防性应用抗生素可能有助于预防新生儿早发型败血症.%Objective Neonatal sepsis is the most serious problem in neonatal intensive care unit, which results in significant mortality. The causative pathogens, drug sensitivity, hematological data, clinical course and mortality rate of neonatal sepsis were evaluated. Methods Neonates admitted to the neonatal intensive care unit (NICU) of lnternational Peaee Matenity and Children's Hospital between January 1999 and December 2008 were included in this study. They were divided into two groups according to the time of their positive culture test after birth, early-onset sepsis group (within the first 7 days of life) and late-onset sepsis groups (after 7 days). Results A total of 67 episodes of sepsis were identified in 66 neonates. The incidence of sepsis was 1.36% among all NICU patients admitted at the same period. Most neonates with early-onset sepsis were term infants, while very low birth weight (VLBW

  3. Neonatal Early-Onset Sepsis Evaluations Among Well-Appearing Infants: Projected Impact of Changes in CDC GBS Guidelines

    Science.gov (United States)

    Mukhopadhyay, Sagori; Eichenwald, Eric C.; Puopolo, Karen M.

    2013-01-01

    OBJECTIVE To determine (a) the proportion of asymptomatic infants born at ≥ 35 weeks gestation evaluated for early-onset sepsis (EOS) and exposed to postnatal antibiotics; (b) reasons for and outcomes of the evaluations, and (c) anticipated changes when applying the CDC 2010 guidelines to this study population. DESIGN/METHODS Retrospective cohort study of infants born at ≥ 35 weeks gestation in 2008–2009 in a large maternity center. RESULTS 7226 infants met study criteria: 1062 (14.7%) were evaluated for EOS and half of those evaluated received empiric antibiotics. 70.4% of evaluations were performed due to maternal intrapartum fever, but 23% were prompted by inadequate GBS prophylaxis alone. Three cases of blood culture-proven infection were identified. CONCLUSION Improved approaches are needed to identify asymptomatic infants at risk for EOS to decrease unnecessary evaluations and antibiotic exposure. Transition to the 2010 CDC GBS guidelines may eliminate a quarter of EOS evaluations among these infants. PMID:22814941

  4. Neonatal morbidity after spontaneous labor onset prior to intended cesarean delivery at term

    DEFF Research Database (Denmark)

    Glavind, Julie; Milidou, Ioanna; Uldbjerg, Niels;

    2017-01-01

    INTRODUCTION: We aimed to investigate if labor onset before planned cesarean delivery (CD) affects the risk of neonatal admission, respiratory distress, or neonatal infectious morbidity. MATERIAL AND METHODS: Our cohort included singleton term pregnant women with intended CD who delivered at Aarhus...... for an immediate CD or for early term CD scheduling. Data were stratified in early term (37-38 weeks) and full term (39-40 weeks) deliveries. The main outcome measures were neonatal admission, respiratory distress, and neonatal infectious morbidity. RESULTS: Among 103 919 live births, 5071 deliveries were non......-labor CDs and 731 were labor onset CDs. Compared to non-labor CD, labor onset CD was associated with similar risks of neonatal admission and respiratory distress, both at early and full term, but with a 2-3 fold increased risk of newborn septicemia or antibiotic treatment at early term. Labor onset at early...

  5. Comparing and analysis of the early-onset and late-onset neonatal sepsis%新生儿早发型与晚发型败血症临床特征分析

    Institute of Scientific and Technical Information of China (English)

    毛莉萍; 林丽星

    2013-01-01

    目的 分析比较新生儿早发型与晚发型败血症的感染途径、高危因素、临床特点及病原菌分布情况,指导临床早期诊断、治疗与干预.方法 根据发病时间对我院2006年1月至2011年12月收治的88例新生儿败血症患儿进行分组,分为早发型组与晚发型组,并进行对照分析.结果 在感染途径方面,两组患儿均以呼吸道感染多见(44.7%与46.0%),两组比较差异无统计学意义(P =0.906).两组间出生情况相比较,早产、出生体质量低、羊水污染、窒息均是新生儿败血症早期发病的高危因素.两组患儿临床特点相比较,早期发病者多以吃奶差(57.9%,22/38)入院,而晚期发病者易出现发热(42.0%,21/50).血培养阳性41例,阳性率46.6%(41/88),两组血培养阳性标本中均以革兰阳性菌为主,分别是75.0%(15/20)、90.4%(19/21),而金黄色葡萄球菌及凝固酶阴性葡萄球菌是主要致病菌.结论 早产、出生体质量低、羊水污染、窒息均是新生儿败血症早期发病的高危因素.早发型败血症常常表现为吃奶差,而晚发型败血症患儿易出现发热.早发型及晚发型败血症的常见致病菌均为革兰阳性菌,以金黄色葡萄球菌及凝固酶阴性葡萄球菌多见.针对有高危因素的患儿,应结合其临床特点早期行病原学检查,进一步明确诊断,指导临床合理用药.%Objective To analyse the pathway of infection,risk factors,clinical characteristics and pathogenic bacteria distribution of neonatal sepsis.Methods Eighty-eight neonatal with sepsis were enrooled from January 2006 to December 2011 in the First Affiliated Hospital of Lanzhou University.According to disease stage,they were divided into early-onset sepsis group and late-onset sepsis groups.Results Respiratory infections in two groups was the majority (44.7% vs.46.0%),and there was no significant difference (P =0.906).That premature birth,low birth weight infant,amniotic fluid

  6. Proteomics mapping of cord blood identifies haptoglobin "switch-on" pattern as biomarker of early-onset neonatal sepsis in preterm newborns.

    Directory of Open Access Journals (Sweden)

    Catalin S Buhimschi

    Full Text Available BACKGROUND: Intra-amniotic infection and/or inflammation (IAI are important causes of preterm birth and early-onset neonatal sepsis (EONS. A prompt and accurate diagnosis of EONS is critical for improved neonatal outcomes. We sought to explore the cord blood proteome and identify biomarkers and functional protein networks characterizing EONS in preterm newborns. METHODOLOGY/PRINCIPAL FINDINGS: We studied a prospective cohort of 180 premature newborns delivered May 2004-September 2009. A proteomics discovery phase employing two-dimensional differential gel electrophoresis (2D-DIGE and mass spectrometry identified 19 differentially-expressed proteins in cord blood of newborns with culture-confirmed EONS (n = 3 versus GA-matched controls (n = 3. Ontological classifications of the proteins included transfer/carrier, immunity/defense, protease/extracellular matrix. The 1(st-level external validation conducted in the remaining 174 samples confirmed elevated haptoglobin and haptoglobin-related protein immunoreactivity (Hp&HpRP in newborns with EONS (presumed and culture-confirmed independent of GA at birth and birthweight (P<0.001. Western blot concurred in determining that EONS babies had conspicuous Hp&HpRP bands in cord blood ("switch-on pattern" as opposed to non-EONS newborns who had near-absent "switch-off pattern" (P<0.001. Fetal Hp phenotype independently impacted Hp&HpRP. A bayesian latent-class analysis (LCA was further used for unbiased classification of all 180 cases based on probability of "antenatal IAI exposure" as latent variable. This was then subjected to 2(nd-level validation against indicators of adverse short-term neonatal outcome. The optimal LCA algorithm combined Hp&HpRP switch pattern (most input, interleukin-6 and neonatal hematological indices yielding two non-overlapping newborn clusters with low (≤20% versus high (≥70% probability of IAI exposure. This approach reclassified ∼30% of clinical EONS diagnoses

  7. Barriers and facilitators related to the uptake of four strategies to prevent neonatal early-onset group B haemolytic streptococcus disease: a qualitative study.

    Science.gov (United States)

    Kolkman, Diny G E; Fleuren, Margot A H; Wouters, Maurice G A J; de Groot, Christianne J M; Rijnders, Marlies E B

    2017-05-09

    Actions to prevent early onset disease in neonates are based on different strategies including administering antibiotic prophylaxis during labour in case of 1) maternal GBS colonisation (screening strategy), 2) identified risk factors (risk-based strategy) or 3) a combination of these two conditions (maternal GBS colonisation and identified risk factors: combination strategy and the Dutch guideline). Low adherence to guidelines preventing EOGBS has been reported. Each strategy has drawbacks and clinical outcomes are affected by care providers' and women's adherence. The actual impact of any preventive strategy is the product of efficacy of the strategy and the level of implementation. In order to reduce neonatal death due to EOGBS by developing the optimal guideline, we analysed barriers and facilitators of current used strategies. Focus group and personal interviews with care providers and women were performed. Impeding and enhancing factors in adherence to the preventive strategies were discussed and scored using the Measurement Instrument for Determinants of Innovations (MIDI) and analysed by two independent researchers. Overall, care providers identified 3.6 times more factors that would impede (n = 116) rather than facilitate (n = 32) adherence to the preventive strategies. 28% facilitative factors were reported in relation to the combination strategy and 86% impeding factors in relation to the Dutch guideline. The most preferred strategy was the combination strategy by 74% of the care providers and by 86% of the women. We obtained a detailed understanding of factors that influence adherence to preventive strategies. This insight can be used to develop implementation activities to improve the uptake of new strategies. The trial is registered in the Dutch Trial Register NTR3965 .

  8. 区分早发型和晚发型新生儿败血症的临床意义%Clinical significance of distinguishing neonatal septicemia between early-onset and late-onset sepsis

    Institute of Scientific and Technical Information of China (English)

    楚燕芳; 余加林; 杜立中

    2015-01-01

    、大肠埃希菌20例],其次为凝固酶阴性葡萄球菌[占32.64%(47/144例)];晚发型败血症致病菌以革兰阳性球菌为主[占58.65%(122/208例),其中凝固酶阴性葡萄球菌90例(43.27%)],其次为大肠埃希菌[17.79%(37/208例)].2组转归比较差异无统计学意义(x2=1.187,P=0.552).结论 早发型和晚发型败血症在临床、实验室检查方面存在一定差异.区分早发型和晚发型新生儿败血症对临床选用抗菌药物有一定参考价值.%Obgective To analyze the demographic data,non-specific items,pathogens and antibiotic sensitivity between the children with early-onset and late-onset sepsis,in order to guide the diagnosis and treatment of neonatal sepsis.Methods Three hundred and fifty-two cases with positive blood culture were retrospectively recruited and divided into an early-onset group and a late-onset sepsis group according to the onset of sepsis.Results Of 352 cases,144 cases (40.91%) were the early-onset children while 208 cases (59.09%) were the late-onset children,and in the late-onset group,108 cases occurred due to nosocomial infection.Most neonates of the early-onset term were term infants [107/144 cases (74.31%)],while the preterm infants [77/208 cases (37.02%)] and low birth weight infants[70/208 cases(33.65%)] accounted for the majority of the late-onset group.The asphyxia,perinatal intrauterine distress,meconium-staining amniotic fluid and premature rupture of fetal membranes ≥ 18 h occurred more frequently in the early-onset group [21/144 cases (14.58%),14/144 cases (9.72%),26/144 cases (18.06%),31/144 cases (21.53%)],respectively,while those in the late-onset group were [17/208 cases (8.17%),9/208 cases(4.33%),13/208 cases(6.25%),17/208 cases(8.17%)],respectively,there were significant differences (x2 =4.622,3.886,5.950,13.345,all P < 0.05) between 2 groups.In the early-onset group abnormal temperature[72/208 cases(34.62%)vs 30/144 cases(20.83%)],vomiting or abdominal

  9. Early Onset Werner Syndrome

    Directory of Open Access Journals (Sweden)

    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

  10. Comparison of changes in etiologic microorganisms causing early-onset neonatal sepsis between preterm labor and preterm premature rupture of membranes.

    Science.gov (United States)

    Jeong, Heejeong; Han, Su-jin; Yoo, Ha-Na; Choi, Suk-Joo; Oh, Soo-Young; Kim, Yae-Jean; Roh, Cheong-Rae; Kim, Jong-Hwa

    2015-11-01

    To investigate changes in the etiologic microorganisms causing early-onset neonatal sepsis (EONS) in preterm labor (PTL) or preterm premature rupture of membranes (pPROM) cases over the past 16 years and to analyze the associated factors. We included consecutive singleton pregnancies delivered before 34 weeks due to PTL or pPROM. The etiologic microorganisms causing EONS in PTL and pPROM cases were compared between period 1 (1996-2004) and period 2 (2005-2012). There was no difference in the incidence of Gram-positive bacteria causing EONS between period 1 and 2, either in PTL (2.0% versus 2.1%, p = 1.0) or in pPROM (1.5% versus 1.6%, p = 1.0). However, the incidence of EONS caused by Gram-negative bacteria was significantly increased in pPROM (0.6% versus 2.7%, p = 0.040) during period 2, compared to period 1; but not in PTL (0.3% versus 1.2%, p = 0.211). Multivariable analysis revealed that a prolonged ROM-to-delivery interval (>7 d) was significantly associated with EONS caused by Gram-negative bacteria in pPROM (odds ratio: 6.6, 95% confidence interval: 1.4-31.8, p = 0.018). The etiologic microorganisms causing EONS have changed over the past 16 years in pPROM cases but not in PTL cases.

  11. 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...

  12. A influência do tempo de coleta sobre os níveis de interleucina-6 na sepse neonatal precoce The role of sample collection timing on interleukin-6 levels in early-onset neonatal sepsis

    Directory of Open Access Journals (Sweden)

    Renato S. Procianoy

    2004-01-01

    Full Text Available OBJETIVO: Avaliar os diferentes achados perinatais e o tempo da coleta da amostra em recém-nascidos com sepse neonatal precoce, comparando os recém-nascidos com nível baixo e alto de IL-6. MÉTODOS: Oitenta e cinco recém-nascidos com sinais clínicos de sepse e/ou hemoculturas positivas tiveram plasma coletado na avaliação inicial da sepse neonatal precoce nas primeiras 96 horas de vida. Foram divididos em: a acima (grupo de nível elevado e b igual ou abaixo (grupo de nível baixo da mediana da IL-6 do grupo total. RESULTADOS: A mediana da IL-6 para o grupo total foi de 89 pg/ml. Os grupos de nível elevado e de nível baixo foram constituídos por 42 e 43 recém-nascidos, respectivamente. Não houve diferença significativa entre ambos os grupos quanto a idade gestacional, peso de nascimento, proporção de parto cesariano, escores de Apgar, número de recém-nascidos cujas mães tiveram fator de risco para infecção, número de mães que receberam antibiótico intraparto e número de hemoculturas positivas. A mediana da IL-6 plasmática do grupo de nível elevado foi 287 pg/ml, e do grupo de nível baixo foi 46 pg/ml (p OBJECTIVE: To assess different perinatal findings and sample collection timing in newborns with early-onset sepsis comparing those with low IL-6 levels to the ones with high levels. METHODS: Eighty-five newborn infants, with clinical signs of sepsis and/or positive blood cultures, had plasma IL-6 collected in the initial evaluation for early-onset sepsis in the first 96 hours of life. They were classified in two groups according to their plasma IL-6 levels: higher, and equal to or lower than IL-6 median value for the whole septic group RESULTS: Median IL-6 for the whole group was 89 pg/ml. High and low level groups were formed by 42 and 43 newborns respectively. There were no differences between the two groups regarding gestational ages, birth weights, cesarean-section proportion, Apgar scores, number of neonates with

  13. 新生儿早发型败血症的临床特点%Clinical characteristics of neonatal early onset sepsis

    Institute of Scientific and Technical Information of China (English)

    李正红; 王丹华

    2011-01-01

    Objective To summarise the clinical data of neonatal early onset sepsis (EOS) and investigate the correlation factors, clinical manifestation, diagnosis, therapy and prognosis of EOS. Methods Data of 32 neonatal EOS patients admitted into the neonatal intensive care unit, Peking Union Medical College Hospital from January 2000 to June 2009 were collected and retrospectively analyzed. Results Among 32 EOS infants, there were 23 preterm infants (71.9%), nine term infants (28.1%); 21 low birth weight infants (65.6%), six very low birth weight infants (18.8%) and one macrosomia (3.1%). Among 32 mothers, 27 (84.4%) were accompanied with various kinds of complications during perinatal period, such as 15 perinatal infection (46.9%), six preeclampsia (18.8%), five gestational diabetes mellitus (15.6%) and one hypothyroidism (3.1%). EOS infants had various clinical manifestations, including 25 low response (78.1%), 20 respiration or temperature abnormity (62.5%), 18 pallor and clammy skin (56.3%), 18 feeding intolerance (56.3%), 18 fever (56.3%), 15 metabolic acidosis (46.9%), 8 infectious shock (25.0%), 20(62.5%) high white blood cell count (>25×109/L), 22 (68.8%) low blood platelets (8 mg/L). Blood culture of 24 infants were positive (75.0%), among which nine infections were caused by gram-positive bacteria (9/24, 37.5%), including Listeria monocytogenes, group B Streptococcus, Staphylococcus, et al; 15 infections were caused by gram-negative bacteria (15/24, 62.5%), including Klebsiella Pneumoniae, Enterobacteria, Bacillus Smaragdinus, et al. Antibiotics were used in all infants when EOS was supposed to be or infectious symptoms were presented, and were adjusted under the results of culture. Twenty-two infants (68.8%) were cured, eight(25.0%) were given up from the therapy, two(6.3%) died. Conclusions The neonatal EOS correlates to various kinds of perinatal factors, its clinical manifestations are complicated and usually involves many systems. Multiple factors in

  14. [Group B streptococcal early-onset neonatal sepsis in the area of Barcelona (2004-2010). Analysis of missed opportunities for prevention].

    Science.gov (United States)

    Giménez, Montserrat; Sanfeliu, Isabel; Sierra, Montserrat; Dopico, Eva; Juncosa, Teresa; Andreu, Antonia; Lite, Josep; Guardià, Cèlia; Sánchez, Ferran; Bosch, Jordi

    2015-01-01

    To study the evolution of the incidence of early-onset neonatal sepsis (EOS) by Streptococcus agalactiae in the area of Barcelona and to analyze failure of compliance with the prevention protocol. A retrospective review was carried out on EOS cases in 8 Health-Care Centers in the Barcelona area between 2004 and 2010. Forty-nine newborns from 48 mothers were diagnosed with EOS. The incidence was 0.29‰ living newborns (0.18-0.47‰), with no significant differences in the fluctuations along the 7 years. The mortality rate was 8.16%. In 68.5% cases the maternal colonization studies were negative, and in 21% these studies were not performed. No risk factors were detected in 58.3% of pregnant women, and 22.9% of births were premature. In 58% of cases intra-partum antibiotic prophylaxis was not administered because it was not indicated, and in 42% due to failure to follow the protocol (3 strains were resistant to erythromycin). Resistance to clindamycin was 33.3%. The Streptococcus agalactiae serotypes more frequently isolated were iii, v, and ia. No significant changes were detected in the incidence of Streptococcus agalactiae EOS in the 7 years of the study. The increased sensitivity of screening methods with the use of molecular techniques, the performance of susceptibility testing of strains isolated from pregnant women, and the improvement of communication between Health-Care Centers, can contribute to a better implementation of the protocol, as well as to reduce the incidence of EOS. Copyright © 2014 Elsevier España, S.L.U. y Sociedad Española de Enfermedades Infecciosas y Microbiología Clínica. All rights reserved.

  15. Neonatal Procalcitonin Intervention Study (NeoPInS): Effect of Procalcitonin-guided decision making on duration of antibiotic therapy in suspected neonatal early-onset sepsis: A multi-centre randomized superiority and non-inferiority Intervention Study.

    Science.gov (United States)

    Stocker, Martin; Hop, Wim C J; van Rossum, Annemarie M C

    2010-12-08

    Early diagnosis and treatment of the newborn infant with suspected sepsis are essential to prevent severe and life threatening complications. Diagnosis of neonatal sepsis is difficult because of the variable and nonspecific clinical presentation. Therefore, many newborns with nonspecific symptoms are started on antibiotic treatment before the presence of sepsis has been proven. With our recently published single-centre intervention study we were able to show that Procalcitonin determinations allowed to shorten the duration of antibiotic therapy in newborns with suspected early-onset sepsis. The study is designed as randomized controlled international multicenter intervention trial on the efficacy and safety of Procalcitonin guided treatment. Term and near-term infants (gestational age ≥ 34 0/7 weeks) with suspected sepsis in the first 3 days of life requiring empiric antibiotic therapy will be included. The duration of antibiotic therapy in the standard group is based on the attending physician's assessment of the likelihood of infection (infection unlikely, possible, probable or proven). In the Procalcitonin group, if infection is considered to be unlikely or possible, antibiotic therapy is discontinued when two consecutive Procalcitonin values are within the normal range. Co-primary outcome measures are the duration of antibiotic therapy (superiority aspect of the trial) and the proportion of infants with a recurrence of infection requiring additional courses of antibiotic therapy and/or death in the first month of life (safety of study intervention, non-inferiority aspect of the trial). The number of infants to be included equals 800 per arm. With these numbers the power of the study to demonstrate superiority for duration of antibiotic therapy as well as non-inferiority regarding safety, i.e. excluding a disadvantage difference larger than 2% for the experimental arm, will both be greater than 80%. Benefit of the study is a possible limitation of unnecessary

  16. Implementation of a cost-effective strategy to prevent neonatal early-onset group B haemolytic streptococcus disease in the Netherlands.

    Science.gov (United States)

    Kolkman, Diny G E; Rijnders, Marlies E B; Wouters, Maurice G A J; van den Akker-van Marle, M Elske; van der Ploeg, Cpb Kitty; de Groot, Christianne J M; Fleuren, Margot A H

    2013-07-30

    Early-onset Group B haemolytic streptococcus infection (EOGBS) is an important cause of neonatal morbidity and mortality in the first week of life. Primary prevention of EOGBS is possible with intra-partum antibiotic prophylaxis (IAP.) Different prevention strategies are used internationally based on identifying pregnant women at risk, either by screening for GBS colonisation and/or by identifying risk factors for EOGBS in pregnancy or labour. A theoretical cost-effectiveness study has shown that a strategy with IAP based on five risk factors (risk-based strategy) or based on a positive screening test in combination with one or more risk factors (combination strategy) was the most cost-effective approach in the Netherlands. IAP for all pregnant women with a positive culture in pregnancy (screening strategy) and treatment in line with the current Dutch guideline (IAP after establishing a positive culture in case of pre-labour rupture of membranes or preterm birth and immediate IAP in case of intra-partum fever, previous sibling with EOGBS or GBS bacteriuria), were not cost-effective. Cost-effectiveness was based on the assumption of 100% adherence to each strategy. However, adherence in daily practice will be lower and therefore have an effect on cost-effectiveness. The aims are to: a.) implement the current Dutch guideline, the risk-based strategy and the combination strategy in three pilot regions and b.) study the effects of these strategies in daily practice. Regions where all the care providers in maternity care implement the allocated strategy will be randomised. Before the introduction of the strategy, there will be a pre-test (use of the current guideline) involving 105 pregnant women per region. This will be followed by a post-test (use of the allocated strategy) involving 315 women per region. The outcome measures are: 1.) adherence to the specific prevention strategy and the determinants of adherence among care providers and pregnant women, 2.) outcomes

  17. Early continuous video electroencephalography in neonatal stroke.

    LENUS (Irish Health Repository)

    Walsh, Brian H

    2012-01-31

    Perinatal stroke is the second most common cause of neonatal seizures, and can result in long-term neurological impairment. Diagnosis is often delayed until after seizure onset, owing to the subtle nature of associated signs. We report the early electroencephalographic (EEG) findings in a female infant with a perinatal infarction, born at 41 weeks 2 days and weighing 3.42 kg. Before the onset of seizures, the EEG from 3 hours after delivery demonstrated occasional focal sharp waves over the affected region. After electroclinical seizures, focal sharp waves became more frequent, complex, and of higher amplitude, particularly in \\'quiet sleep\\'. In \\'active sleep\\

  18. Early continuous video electroencephalography in neonatal stroke.

    LENUS (Irish Health Repository)

    Walsh, Brian H

    2011-01-01

    Perinatal stroke is the second most common cause of neonatal seizures, and can result in long-term neurological impairment. Diagnosis is often delayed until after seizure onset, owing to the subtle nature of associated signs. We report the early electroencephalographic (EEG) findings in a female infant with a perinatal infarction, born at 41 weeks 2 days and weighing 3.42 kg. Before the onset of seizures, the EEG from 3 hours after delivery demonstrated occasional focal sharp waves over the affected region. After electroclinical seizures, focal sharp waves became more frequent, complex, and of higher amplitude, particularly in \\'quiet sleep\\'. In \\'active sleep\\

  19. Neonatal morbidity after spontaneous labor onset prior to intended cesarean delivery at term: a cohort study.

    Science.gov (United States)

    Glavind, Julie; Milidou, Ioanna; Uldbjerg, Niels; Maimburg, Rikke; Henriksen, Tine B

    2017-04-01

    We aimed to investigate if labor onset before planned cesarean delivery (CD) affects the risk of neonatal admission, respiratory distress, or neonatal infectious morbidity. Our cohort included singleton term pregnant women with intended CD who delivered at Aarhus University Hospital from 1990 to 2012. Two groups of women were identified: women with intended CD performed before labor (nonlabor CD) and women with intended CD performed after spontaneous labor onset (labor-onset CD); in both groups there was no other maternal or fetal medical indication for an immediate CD or for early-term CD scheduling. Data were stratified in early-term (37-38 weeks) and full-term (39-40 weeks) deliveries. The main outcome measures were neonatal admission, respiratory distress and neonatal infectious morbidity. Among 103 919 live births, 5071 deliveries were nonlabor CDs and 731 were labor-onset CDs. Compared to nonlabor CD, labor-onset CD was associated with similar risks of neonatal admission and respiratory distress, both at early and full term, but with a two- to three-fold increased risk of newborn septicemia or antibiotic treatment at early term. Labor onset at early term was associated with a lower risk of maternal blood loss of more than 500 mL, but with a higher risk of postoperative antibiotic treatment and endometritis. Labor onset before planned CD was not associated with a decrease in neonatal respiratory morbidity, but may be associated with increased risks of neonatal infection. © 2017 Nordic Federation of Societies of Obstetrics and Gynecology.

  20. 妇幼保健院新生儿早发型血流感染分析%Analysis of neonatal early-onset blood stream infections in maternal and children's hospital

    Institute of Scientific and Technical Information of China (English)

    黄小艺; 刘志伟

    2012-01-01

    目的 探讨妇幼保健院新生儿早发型血流感染的病原菌、药敏率以及临床特点,为临床诊疗提供指导帮助.方法 回顾性分析1999年12月-2009年5月医院65例新生儿早发型血流感染病例血培养病原菌分布及药敏率;根据有无临床症状分为新生儿败血症组和菌血症组,比较两组新生儿胎龄、出生体重、性别、分娩方式、窒息史、母亲产前抗菌药物应用情况及预后.结果 医院新生儿早发型血流感染发病率为0.88%;新生儿早发型血流感染革兰阳性菌占73.85%,病原菌前5位依次为无乳链球菌、大肠埃希菌、李斯特菌属、肠球菌属及凝固酶阴性葡萄球菌,分别占26.15%、24.61%、16.93%、15.38%、9.23%;单核李斯特菌及大肠埃希菌是引起新生儿早发型败血症死亡的主要病原菌;青霉素G、万古霉素对革兰阳性菌耐药率为0;败血症组早产儿、低出生体重儿、窒息率及死亡率均高于菌血症组(P<0.05),母体宫内感染确诊率、新生儿生后抗菌药物预防性使用率低于菌血症组(P<0.05).结论 妇幼保健院新生儿早发型血流感染以革兰阳性菌为主,青霉素类抗菌药物可作为新生儿早发型感染预防及治疗首选经验性药物,各医院应根据该院菌群分布特点及耐药性合理选择抗菌药物;对母亲具有宫内感染高危因素的新生儿尤其是早产儿,低出生体重儿预防性应用抗菌药物可缓解新生儿早发型血流感染临床症状及降低其死亡率.%OBJECTIVE To investigate the distribution, antibiotic resistance of positive results and clinical characteristics of neonatal early-onset blood stream infections in maternal &. children's hospital so as to provide evidence for prophylactic and therapeutic use of antibiotics. METHODS A retrospective analysis was conducted on 65 neonates with neonatal early-onset blood stream infections, which were confirmed by hemoculture and

  1. Colonización por estreptococo beta hemolítico del grupo b durante el embarazo y prevención de enfermedad neonatal Group B streptococcus colonization during pregnancy and prevention of early onset of disease

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    José Sad Larcher

    2005-06-01

    Full Text Available El estreptococo beta-hemolítico del grupo B (SGB es uno de los principales agentes causantes de sepsis neonatal precoz. La mortalidad de los afectados oscila entre el 6 y el 20%, y la tasa de secuela neurológica llega al 30%. En 1996 el Centro de Prevención y Control de Enfermedades de Atlanta, el Colegio Americano de Obstetras y Ginecólogos y la Academia Americana de Pediatría sugirieron en consenso que el personal de atención de salud materna-neonatal debía adoptar una estrategia para la prevención de la sepsis por este germen. Los objetivos del presente trabajo prospectivo fueron determinar el porcentaje de colonización por SGB en las pacientes gestantes asistidas del 1° de julio de 2001 al 31 de diciembre de 2002 e implementar un programa de prevención de sepsis neonatal precoz por SGB a través de profilaxis antibiótica intraparto basado en cultivos. Sobre 1756 pacientes, se realizaron cultivos con hisopado vaginal y anal a 1228 (69.9%. El porcentaje de colonización materna por SGB fue del 1.4% (17 pacientes. Se presentó un caso de sepsis neonatal compatible con SGB (0.6‰ en una madre con cultivo negativo. Sólo una paciente portadora de SGB presentó factores de riesgo. Los resultados nos sugieren continuar con la estrategia de prevención basada en cultivos debido a que la mayoría de las pacientes colonizadas no presentaron factores de riesgo. Son necesarios estudios de relación costo-beneficio en nuestro medio para definir si esta estrategia de prevención es aplicable a la realidad sanitaria argentina.Group B Streptococcus (GBS is the most frequent cause of early onset of neonatal sepsis. Case-fatality rate is 6-20% for newborns. Neurological sequel occurs in 30% of survivors. In 1996, the Centers for Disease Control and Prevention (CDC, the American College of Obstetricians and Gynecologists, and the American Academy of Pediatrics recommended that obstetrics providers should adopt either a culture-based or a risk

  2. Early onset sebaceous carcinoma

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    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.

  3. Acute Neonatal Parotitis with Late-Onset Septic Shock due to Streptococcus agalactiae

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    M. Boulyana

    2014-01-01

    Full Text Available Acute neonatal parotitis (ANP is a very rare disease. Most cases are managed conservatively; early antibiotics and adequate hydration may reduce the need for surgery. The most common cause of ANP is Staphylococcus aureus. We report a rare case of acute neonatal parotitis with late-onset septic shock due to Streptococcus agalactiae. The diagnosis was confirmed with ultrasound and isolation of Streptococcus agalactiae from blood culture. The patient was treated successfully with 10 days of intravenous antibiotics and supportive measures. Despite being rare, streptococcal ANP should be considered in the etiological diagnosis of neonatal sepsis. Early diagnosis and appropriate antibiotic might prevent serious complications.

  4. Acute Neonatal Parotitis with Late-Onset Septic Shock due to Streptococcus agalactiae

    OpenAIRE

    Boulyana, M.

    2014-01-01

    Acute neonatal parotitis (ANP) is a very rare disease. Most cases are managed conservatively; early antibiotics and adequate hydration may reduce the need for surgery. The most common cause of ANP is Staphylococcus aureus. We report a rare case of acute neonatal parotitis with late-onset septic shock due to Streptococcus agalactiae. The diagnosis was confirmed with ultrasound and isolation of Streptococcus agalactiae from blood culture. The patient was treated successfully with 10 days of int...

  5. Epidemiology of early neonatal mortality.

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    Tyagi, N K; Bharambe, M S; Garg, B S; Mathur, J S; Goswami, K

    1994-01-01

    During 1981-1991 at a rural teaching hospital (Kasturba Hospital) of Mahatma Gandhi Institute of Medical Sciences in Sevagram, Wardha, India, 454 of 13,939 newborns died during the early neonatal period for an early neonatal mortality rate (ENMR) of 33.7/1000 live births. The ENMR for boys was not significantly different from that for girls (36.1 vs. 28.6). Community medicine specialists analyzed data on these early neonatal deaths to examine distribution of early neonatal mortality, especially its relationship with prematurity, low birth weight, birth order, and by sex. They calculated average percent deaths (APD) per hour to examine the dynamics in early neonatal mortality. The mean age at death was lower among newborns of birth order greater than 2 than those of birth order less than 2 (23.47 vs. 26.85 hours; p 0.001). ENMR was higher for newborns of birth order greater than 2 than those of birth order less than 2 (41.74% vs. 27.35%; P 0.001). The mean age at death increased as gestation increased (10.34 for 28 weeks; 24.27 for 28-33 weeks, 31.53 for 33-37 weeks, and 34.43 for 37 weeks; p 0.001). ENMR decreased as gestation increased (850 for 28 weeks; 375 for 28-33 weeks, 147.02 for 33-37 weeks, and 8.77 for 37 weeks; p 0.001). The mean age at death increased as birth weight increased for newborns weighing less than 1500 gms through 2000-2500 gms (23.36-37.13 hours; p 0.001). It was lowest among those weighing more 3000 gms (11.55 gms). ENMR fell as birth weight increased (614.33 for 1500 gms, 116.19 for 1500-2000 gms, 19.38 for 2000-2500 gms, 10.99 for 2500-3000 gms, and 5.41 for 3000 gms; p 0.001). The APD/hour for the first hour of life was 3.74% for a relative risk of 12.9. It decreased steadily as the hours of life increased (3.08% for 1-6 hours, 1.19% for 6-24 hours, 0.67% for 24-72 hours, and 0.29% for 72-168 hours). Knowledge of time of likely death can help providers know where they need to focus their attention to prevent early neonatal deaths.

  6. Maximizing neonatal early onset group B streptococcal disease prevention with universal culture screening at 35 to 37 weeks gestation: a comparison of GBS detection rates between LIM broth and CNA culture media.

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    Orsello, Christopher; Dommermuth, Ronald

    2003-06-01

    Group B streptococcal (GBS) disease is the most common cause of early onset neonatal sepsis. The Centers for Disease Control (CDC) recommends performing recto-vaginal cultures on pregnant woman to detect GBS, followed by treatment of women with positive cultures. Our facility adopted selective culture screening in 1997 using a colistin-naladixic acid (CNA) plate media instead of the more expensive LIM broth media. CNA plate cultures cost one third that of LIM broth and allow for final results in 24 hours, versus 48-72 hours with LIM broth. We hypothesized that CNA media saves time, money, and detects GBS as effectively as LIM broth. This study determined which media is superior at detecting recto-vaginal GBS. This was a case-control study involving 152 consecutive pregnant patients at 35-37 weeks from August 1 to October 1, 2001, at Naval Hospital Bremerton, Wash. We obtained two recto-vaginal swabs from each patient. One was cultured in LIM broth and the other on CNA medium. We then compared differences in the rates of positive cultures with LIM broth versus CNA medium using chi-square statistics and calculation of odds ratios (OR). LIM broth detected GBS in 35 of 145 (24.19%) women versus 21 of 145 (14.5%) using CNA. CNA failed to detect GBS in 15 cases in which LIM broth succeeded (OR=1.88; 95% CI=1.03-3.4). LIM broth is superior at detecting maternal GBS colonization and is recommended over CNA plate to maximize prevention of early onset neonatal GBS disease.

  7. Genetics Home Reference: early-onset glaucoma

    Science.gov (United States)

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

  8. 不同发病孕周早发型重度子痫前期母婴结局分析%Analysis of the Maternal and Neonatal Outcome of Early Onset Severe Pre-eclampsia at Different Gestational Weeks

    Institute of Scientific and Technical Information of China (English)

    刘桂玉

    2014-01-01

    Objective To investigate the af ection to the mother and neonate of early onset severe pre-eclampsia at dif erent gestational weeks.Methods 62 patients diagnosed as EOSP with the gestational weeks of 20~34 were involved in the study and divided into groups.Group A 12 patinets with the gestational week of 20~28,Group B 25 patinets with the gestational week of 28~32 and Group C 25 patinets with the gestational week of 32~34.We compared the maternal and neonatal outcome among the three groups.Results The shorter the gestational weeks of EOSP was,the higher the rate of placental abruption and fetal death was,there was significant dif erence among the outcome of the three groups( <0.05).Conclusion The prognosis of early onset of severe preeclampsia patients whose gestational weeks were more than 28 weeks were bet er.Expectant treatment can prolong the gestational week of early onset of severe pre-eclampsia patients and and it's very important to master the time and way for pregnancy termination.%目的探讨不同发病孕周早发型重度子痫前期(EOSP)对母婴结局的影响。方法62例EOSP患者,孕20~34w,其中孕20~28w12例(A组),孕28~32w25例(B组),孕32~34w25例(C组)。比较各组母婴结局。结果早发型重度子痫前期发病孕周越早,患者胎盘早剥、子痫、死胎发生率越高,母婴结局不良的几率越高。三组间差异有统计学意义,<0.05。结论孕28w后发病的早发型重度子痫前期母婴结局较好,期待治疗可以适当延长孕周,选择适宜的终止妊娠时机和方式是减少母婴并发症的有力措施。

  9. Early-onset, severe lipoatrophy in a patient with permanent neonatal diabetes mellitus secondary to a recessive mutation in the INS gene.

    Science.gov (United States)

    Rachmiel, Marianna; Rubio-Cabezas, Oscar; Ellard, Sian; Hattersley, Andrew T; Perlman, Kusiel

    2012-09-01

    We describe a case of neonatal diabetes due to a homozygous mutation (c.3 G>T) at the INS gene, leading to lack of insulin expression and severe hyperglycemia from day one of life requiring permanent insulin replacement therapy. The genetic loss of endogenous insulin production likely led to lack of immune tolerance to insulin, with resultant autoantibody production against exogenous insulin and progressive immune-mediated lipoatrophy at injection sites.

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

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    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

  11. Impact of fetal and neonatal malnutrition on the onset of puberty and associated noncommunicable disease risks

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    Nicholas E Connor

    2011-02-01

    Full Text Available Nicholas E ConnorChild Health Research Foundation Dhaka Shishu Hospital, Dhaka, BangladeshBackground: Fetal and neonatal malnutrition impacts the timing of the onset of puberty. The timing of puberty onset has been shown to be a rough indicator of noncommunicable disease (NCD risk. Recent advances in understanding the various inter-related neurochemical and genetic controls underpinning puberty onset have shed new light on these interesting and important phenomena. These studies have suggested that developmental trajectory is set very early by epigenetic mechanisms that serve to adjust phenotype to environment.Objective: The aims of this article are to review the most recent research into the proximate mechanisms that initiate puberty; to explore how the activation of those mechanisms could be affected by nutritional cues received during fetal and neonatal life; and, finally, to briefly explore the ramifications for public health.Methods: An extensive literature review was performed using PubMed (1950 to September 2010 and Google Scholar (1980 to September 2010 using the search terms “puberty onset”, “perinatal”, and “neonatal malnutrition”. English language, original research, and review articles were examined; pertinent citations from these articles were also assessed.Results: Literature detailing biochemical pathways and evolutionary explanations of human puberty itself led quickly to a noteworthy connection between neonatal malnutrition, puberty onset, and NCD risk. A strong connection was found between maternal malnutrition during critical windows (followed by catch-up growth in childhood and an accelerated onset of puberty. Children subject to early nutritional insult not only are likely to undergo puberty earlier but also show an increase in their risk of developing NCDs in later life. Several authors have suggested that this relationship may show potential as an early proxy indicator of susceptibility to these types of

  12. A comparison of neutrophil gelatinase-associated lipocalin and immature to total neutrophil ratio for diagnosing early-onset neonatal sepsis

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    Rocky Wilar

    2016-07-01

    Conclusion Immature to total neutrophil (IT ratio has higher specificity compared to NGAL for early diagnosis of EONS. However, the difference in sensitivity between the two test is not statistically significant.

  13. 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

  14. 新生儿早发型败血症43例病原菌分布及耐药性分析%Pathogen distribution and antimictobial resistance of 43 cases of early onset neonatal septicemia

    Institute of Scientific and Technical Information of China (English)

    叶冯; 昌宏

    2013-01-01

    目的 探讨新生儿早发型败血症(EOS)病原菌分布及对抗生素的耐药情况.方法回顾性分析2009-2011年我院新生儿科收治的EOS患儿,根据患儿血培养及药敏试验结果,分析病原菌及其对抗生素的耐药性.结果 研究期间我科共收治新生儿3040例,诊断败血症146例,占4.8%,其中EOS 43例,占住院新生儿的1.4%,占败血症患儿的29.4%.病原菌中革兰阳性菌以金黄色葡萄球菌(16.3%)为主,其次为耐甲氧西林金黄色葡萄球菌、表皮葡萄球菌、无乳链球菌,均占9.3%;革兰阴性菌以大肠埃希菌(20.9%)为主,其次为肺炎克雷伯菌(9.3%)、鲍曼不动杆菌(4.6%).除无乳链球菌对青霉素敏感外,余革兰阳性球菌对青霉素、苯唑西林、头孢曲松、克林霉素、红霉素耐药率均很高,但未发现对利福平、万古霉素耐药;革兰阴性菌对氨苄西林、哌拉西林、第一、二代头孢及不加酶的第三代头孢菌素耐药率高,但对头孢哌酮/舒巴坦、碳青霉烯类、喹诺酮类耐药率低.结论 金黄色葡萄球菌、大肠埃希菌是新生儿EOS的主要病原菌,应根据其药敏结果使用抗生素.%Objective Discussion about the distribution of pathogenic bacteria and drug-resistant on the antibiotics observed in neonate early-onset sepsis ( EOS ). Methods Retrospective study the cases of neonates who were diagnosed as EOS between 2009 to 2011 in our hospital. We carried out the germiculture and drug sensitive test to the sputum and blood of patient, and investigated the pathogenic bacteria and drug-resistant on the antibiotics. Results During this period, our department totally received and cured 3040 neonates and 146 of them were diagnosed as sepsis. The incidence is about 4. 8%. Furthermore, 43 of those patients were early-onset septicemia. It was 29. 4% of the total number and the incidence is 1. 4%. For the pathogenic bacteria, G + pathogenic bacteria are mainly composed of staphylococcus aureus ( 16

  15. Feeding Modalities and the Onset of the Neonatal Abstinence Syndrome

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    Anthony eLiu

    2015-02-01

    Full Text Available AbstractBreast milk has been reported to ameliorate the severity and outcome of neonatal abstinence syndrome (NAS. The mechanism of this beneficial effect of breast milk on NAS remains unclear, as the negligible amount of methadone transmitted via breast milk is unlikely to have an impact on NAS. The aim of this study was to compare the impact of different feeding modalities on the onset of NAS.A retrospective medical record review was conducted on one hundred and ninety-four methadone maintained mother/infant dyads. Infants were categorized on the first 2 days of life as predominantly breastfed, fed expressed human breast milk or formula fed. The feeding categories were then analyzed using the onset of NAS as the outcome measure. After adjusting for confounders, there was no significant effect of the modality of feeding on the rates of NAS requiring treatment (p=0.11. Breastfeeding significantly delayed the onset of NAS (p=0.04The act of breastfeeding in the first two days of life had no effect on whether an infant required treatment for NAS when compared to those fed EBM or formula. This only suggests that the advantages of breastfeeding on NAS cannot be substantiated in a small cohort and should not discourage breastfeeding.

  16. A high burden of late-onset sepsis among newborns admitted to the largest neonatal unit in central Vietnam.

    Science.gov (United States)

    Tran, H T; Doyle, L W; Lee, K J; Dang, N M; Graham, S M

    2015-10-01

    The objective of this study is to determine the prevalence, causes and outcome of sepsis in hospitalized neonates in the largest neonatal unit in central Vietnam. A 1-year prospective cohort study of newborns admitted to the neonatal unit in Da Nang. A sepsis work-up including blood culture was undertaken before commencing antibiotics for neonates with suspected sepsis. Of 2555 neonatal admissions, 616 neonates had 729 episodes of suspected invasive sepsis. A pathogen was isolated from blood in 115 (16%) episodes in 106 neonates. The prevalence of early-onset sepsis (EOS) was 8 (95% confidence interval (CI): 4 to 11) per 1000 admissions, and of late-onset sepsis (LOS) was 34 (95% CI: 27 to 41) per 1000 admissions. Of 86 neonates with LOS, 69 (80%) also fulfilled the criteria for nosocomial sepsis. The commonest bacterial causes of EOS were coagulase-negative Staphylococcus (CoNS) and Staphylococcus aureus, and of LOS were Acinetobacter, CoNS and Klebsiella pneumoniae. Fungal sepsis occurred in 35 neonates of which most were nosocomial sepsis. In vitro resistance to multiple antibiotics was common among Gram-negative bacteria. Antibiotics were prescribed and given to 68% of all admissions, and 14% of all admissions received four or more different antibiotics. The case fatality rate for confirmed sepsis was 46%. Late-onset, nosocomial sepsis was common and associated with a high mortality in hospitalized newborns in the largest neonatal unit in central Vietnam. These findings highlighted the need for improved infection control measures and antibiotic stewardship, which have since been implemented.

  17. Heart rate characteristics: physiomarkers for detection of late-onset neonatal sepsis.

    Science.gov (United States)

    Fairchild, Karen D; O'Shea, T Michael

    2010-09-01

    Early detection of late-onset neonatal sepsis, before the onset of obvious and potentially catastrophic clinical signs, is an important goal in neonatal medicine. Sepsis causes a well-known series of physiologic changes including abnormalities of blood pressure, respiration, temperature, and heart rate, and less well-known changes in heart rate variability. Although vital signs are frequently or continuously monitored in patients in the neonatal intensive care unit (NICU), changes in these parameters are subtle in the early phase of sepsis and difficult to interpret using traditional NICU monitoring tools. A new tool, continuous monitoring of heart rate characteristics (HRC), is now available for clinical use. Recent research has established that 2 abnormalities of HRC that have long been used by obstetricians to identify fetal compromise, reduced heart rate variability and transient decelerations, occur early in the course of sepsis in patients in the NICU, often before clinical signs of illness. Through mathematical modeling of electrocardiogram data from hundreds of patients in the NICU, an HRC index that represents the fold increase in risk that a neonate will be diagnosed with clinical or culture-proven sepsis within the next 24 hours was derived. The effect of continuous HRC monitoring on outcomes in preterm very low birth weight infants is the subject of a multicenter randomized clinical trial of 3000 patients, which will be complete in 2010. Further research into mechanisms of abnormal HRC and regulation of autonomic nervous system function in sepsis and other disease processes will shed light on additional applications of this exciting new technology. (c) 2010 Elsevier Inc. All rights reserved.

  18. Early onset (childhood) monogenic neuropathies.

    Science.gov (United States)

    Landrieu, Pierre; Baets, Jonathan

    2013-01-01

    Hereditary neuropathies (HN) with onset in childhood are categorized according to clinical presentation, pathogenic mechanism based on electrophysiology, genetic transmission and, in selected cases, pathological findings. Especially relevant to pediatrics are the items "secondary" versus "primary" neuropathy, "syndromic versus nonsyndromic," and "period of life." Different combinations of these parameters frequently point toward specific monogenic disorders. Ruling out a neuropathy secondary to a generalized metabolic disorder remains the first concern in pediatrics. As a rule, metabolic diseases include additional, orienting symptoms or signs, and their biochemical diagnosis is based on logical algorithms. Primary, motor sensory are the most frequent HN and are dominated by demyelinating autosomal dominant (AD) forms (CMT1). Other forms include demyelinating autosomal recessive (AR) forms, axonal AD/AR forms, and forms with "intermediate" electrophysiological phenotype. Peripheral motor neuron disorders are dominated by AR SMN-linked spinal muscular atrophies. (Distal) hereditary motor neuropathies represent 40 genes with various biological functions have been found to be responsible for primary HN. Many are responsible for various phenotypes, including some without the polyneuropathic trait, and some for various types of transmission.

  19. Estudo dos fatores de risco maternos associados à sepse neonatal precoce em hospital terciário da Amazônia brasileira Study of maternal risk factors associated with early-onset neonatal sepsis in a tertiary hospital of the Brazilian Amazonia

    Directory of Open Access Journals (Sweden)

    Rossiclei de Souza Pinheiro

    2007-08-01

    Full Text Available OBJETIVO: identificar os fatores de risco maternos envolvidos na sepse neonatal precoce, pesquisando vaginose bacteriana, microorganismos isolados em cultura de urina materna e na hemocultura do recém-nascido na sala de parto. MÉTODOS: estudo de coorte longitudinal prospectivo, envolvendo, aleatoriamente, 302 mães e seus recém-nascidos, que foram acompanhados até sete dias de vida, a fim de diagnosticar sepse. RESULTADOS: diagnosticados 16 casos (5,3% de sepse neonatal precoce. O número médio de consultas no pré-natal foi 5,2 (DP=1,8. Das 269 (89,1% grávidas que fizeram acompanhamento pré-natal, porém, 117 (43,4% fizeram mais de seis consultas; 90 (29,8% tiveram bolsa rota antes do parto, somente 22 (7,3% tinham mais de 18 horas. Cento e vinte e três grávidas (40,7% queixavam-se de corrimento vaginal, entretanto 47 (15,6% tinham vaginose bacteriana. Em 23 (7,6%, foi identificada bacteriúria; duas (0,7% apresentavam febre no domicílio e 122 (40,4% fizeram antibioticoprofilaxia intraparto. Quarenta recém-nascidos (13,2% foram prematuros, 37 (12,3% com baixo peso. A avaliação do risco relativo mostrou significância para prematuridade (RR=92,9; IC95%=12,6-684,7, número de consultas no pré-natal inferior a seis (RR=10,8; IC95%=1,4-80,8, febre no domicílio (RR=10,0; IC95%=2,3-43,5, baixo peso ao nascer (RR=21,5; IC95%=7,3-63,2 e Apgar inferior a sete no quinto minuto (RR=19,5; IC95%=9,0-41,9. Foram encontradas diferenças significantes no nível de 5% na comparação das médias para o baixo número de consultas no pré-natal, prematuridade e baixo peso ao nascer. CONCLUSÕES: o principal microorganismo isolado na hemocultura dos recém-nascidos foi o Streptococcus agalactiae. Prematuridade, ausência de seguimento pré-natal e baixo peso ao nascer foram os fatores de risco mais associados com sepse neonatal precoce.PURPOSE: to identify the main maternal risk factors involved in early-onset neonatal sepsis, evaluating the risk

  20. Early-onset Lafora body disease

    Science.gov (United States)

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

    2012-01-01

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

  1. 中法两家医院早发型新生儿脓毒症临床资料对比分析%Clinical manifestations and treatment of early-onset neonatal sepsis: a Chinese-French comparison

    Institute of Scientific and Technical Information of China (English)

    范颖; 余加林; Dominique ASTRUC

    2012-01-01

    Objective To realize the difference between China and France in the clinical manifestations,diagnosis and treatment of early-onset neonatal sepsis (EONS) and to provide basis to improve the level of our hospital in diagnosing and treating this disease. Method Data of 146 cases of EONS were retrospectively analyzed. All data were collected from our hospital and a French hospital.Bacterial spectrum,clinical manifestations,use of antibacterial drugs,occurrence of recording and screening of perinatal risk factors were compared between the two hospitals. Result The most common pathogenic bacteria in our hospital were coagulase-negative staphylococcus (69.2% ) and Escherichia coli ( 15.4% )while in the French Hospital,group B streptococcus (33.3%) and Escherichia coli (33.3%).The most common pathogenic bacteria in gastric liquid and peripheral swabs of the French hospital were Escherichia coli (33.3%) and group B streptococcus (21.2%).Total days of antibacterial use 11.4 ±7.2 (d),mean sorts of antibacterial drugs for single patient ( 3.1 ± O.9) and proportion of patients who had antibacterial drug changes ( 70.2% ) were greater than the French hospital 6.2 ± 2.5 ( d ),2.2 ± 0.8 ( d),( 9.9% ).Both hospitals were inclined to combine 2 antibacterial drugs for the first dose (second-generation cephalosporins + semi-synthetic penicillin in our hospital vs. amoxicillin + amikacin in the French hospital). The common second and third line antibacterial drugs in our hospital are carbapenems and vancomycin vs. third-generation cephalosporins and vancomycin in the French hospital. The rates of occurrence of recording and screening perinatal risk factors ( chorioamnionitis, maternal fever,prolonged rupture of membranes,screening results of vaginal swabs or urinary infection,amniotic fluid contamination,prenatal antibacterial prophylaxis,anamnesis of EONS) in our hospital was all lower than those of the French hospital.There was no significant difference ia

  2. 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.

  3. Early Onset Charcot-Marie-Tooth Disease

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    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.

  4. Reappraisal of twinning: epidemiology and outcome in the early neonatal period

    Science.gov (United States)

    Gupta, Priyanka; Faridi, Mohammad Moonis Akbar; Goel, Neerja; Zaidi, Zeashan

    2014-01-01

    INTRODUCTION The present study aimed to determine the epidemiology, maternal complications and adverse neonatal outcomes associated with twin births at a tertiary care hospital in India. METHODS A prospective observational study was conducted on all successively born twin pairs (≥ 23 weeks of gestation) and their mothers from January to September 2005. Main outcome measures included maternal medical/obstetric complications, labour characteristics and the morbidities/mortality observed during the early neonatal period. RESULTS The twinning rate was 1 in 54 deliveries. Around 10% of mothers had a predisposition for twinning in the form of familial tendency or consumption of clomiphene. Anaemia (85%) was the most common maternal complication, followed by gestational hypertension (17%). Nearly one-third of births were delivered via Caesarean section. Prematurity (61%) was the most common neonatal complication followed by early-onset neonatal sepsis (21%). The risk of early neonatal death was 27%. Shorter gestation and low birth weight were significantly associated with adverse neonatal outcome (p delivery time interval, gender and intra-pair birth weight discordance did not affect neonatal morbidity or mortality (p ≥ 0.05). CONCLUSION The rates of maternal complications and early neonatal morbidities/mortality were quite high in twin gestations. Except for the prematurity and low birth weight, none of the other factors, including inter-twin delivery time interval of more than 15 mins, were found to affect neonatal outcome. PMID:25017406

  5. Unusual early-onset Huntingtons disease.

    Science.gov (United States)

    Vargas, Antonio P; Carod-Artal, Francisco J; Bomfim, Denise; Vázquez-Cabrera, Carolina; Dantas-Barbosa, Carmela

    2003-06-01

    Huntington's disease is an autosomal dominant progressive neurodegenerative disorder characterized by involuntary movements, cognitive decline, and behavioral disorders leading to functional disability. In contrast to patients with adult onset, in which chorea is the major motor abnormality, children often present with spasticity, rigidity, and significant intellectual decline associated with a more rapidly progressive course. An unusual early-onset Huntington's disease case of an 11-year-old boy with severe hypokinetic/rigid syndrome appearing at the age of 2.5 years is presented. Clinical diagnosis was confirmed by polymerase chain reaction study of the expanded IT-15 allele with a compatible size of 102 cytosine-adenosine-guanosine repeats L-Dopa mildly ameliorated rigidity, bradykinesia, and dystonia. We conclude that Huntington's disease should be included in the differential diagnoses of regressive syndromes of early childhood.

  6. Outcome and risk factors of early onset severe preeclampsia

    Institute of Scientific and Technical Information of China (English)

    GONG Yun-hui; JIA Jin; L(U) Dong-hao; DAI Li; BAI Yi; ZHOU Rong

    2012-01-01

    Background Early onset severe preeclampsia is a specific type of severe preeclampsia,which causes high morbidity and mortality of both mothers and fetus.This study aimed to investigate the clinical definition,features,treatment,outcome and risk factors of early onset severe preaclampsia in Chinese women.üMethods Four hundred and thirteen women with severe preeclampsia from June 2006 to June 2009 were divided into three groups according to the gestational age at the onset of preeclampsia as follows:group A (less than 32 weeks,73 cases),group B (between 32 and 34 weeks,71 cases),and group C (greater than 34 weeks,269 cases).The demographic characteristics of the subjects,complications,delivery modes and outcome of pregnancy were analyzed retrospectively.üResults The systolic blood pressure at admission and the incidence of severe complications were significantly lower in group C than those in groups A and B,prolonged gestational weeks and days of hospitalization were significantly shorter in group C than those in groups A and B.Liver and kidney dysfunction,pleural and peritoneal effusion,placental abruption and postpartum hemorrhage were more likely to occur in group A compared with the other two groups.Twenty-four-hour urine protein levels at admission,intrauterine fetal death and days of hospitalization were risk factors that affected complications of severe preeclampsia.Gestational week at admission and delivery week were also risk factors that affected perinatal outcome.Conclusions Early onset severe preeclampsia should be defined as occurring before 34 weeks,and it is featured by more maternal complications and a worse perinatal prognosis compared with that defined as occurring after 34 weeks.Independent risk factors should be used to tailor the optimized individual treatment plan,to balance both maternal and neonatal safety.

  7. Early neonatal lamb mortality: postmortem findings.

    Science.gov (United States)

    Holmøy, I H; Waage, S; Granquist, E G; L'Abée-Lund, T M; Ersdal, C; Hektoen, L; Sørby, R

    2017-02-01

    An investigation of stillbirth and early neonatal lamb mortality was conducted in sheep flocks in Norway. Knowledge of actual causes of death are important to aid the interpretation of results obtained during studies assessing the risk factors for lamb mortality, and when tailoring preventive measures at the flock, ewe and individual lamb level. This paper reports on the postmortem findings in 270 liveborn lambs that died during the first 5 days after birth. The lambs were from 17 flocks in six counties. A total of 27% died within 3 h after birth, 41% within 24 h and 80% within 2 days. Most lambs (62%) were from triplet or higher order litters. In 81% of twin and larger litters, only one lamb died. The most frequently identified cause of neonatal death was infectious disease (n=97, 36%); 48% (n=47) of these died from septicaemia, 25% (n=24) from pneumonia, 22% (n=21) from gastrointestinal infections and 5% (n=5) from other infections. Escherichia coli accounted for 65% of the septicaemic cases, and were the most common causal agent obtained from all cases of infection (41%). In total, 14% of neonatal deaths resulted from infection by this bacterium. Traumatic lesions were the primary cause of death in 20% (n=53) of the lambs. A total of 46% of these died within 3 h after birth and 66% within 24 h. Severe congenital malformations were found in 10% (n=27) of the lambs, whereas starvation with no concurrent lesions was the cause of death in 6% (n=17). In 16% (n=43) of the lambs, no specific cause of death was identified, lambs from triplet and higher order litters being overrepresented among these cases. In this study, the main causes of neonatal lamb mortality were infection and traumatic lesions. Most neonatal deaths occurred shortly after birth, suggesting that events related to lambing and the immediate post-lambing period are critical for lamb survival.

  8. Late-onset Neonatal Sepsis-A 10-year Review From North Queensland, Australia.

    Science.gov (United States)

    Gowda, Harsha; Norton, Robert; White, Andrew; Kandasamy, Yogavijayan

    2017-09-01

    Late-onset sepsis (LOS) in neonates contributes significantly to both morbidity and mortality. To determine the incidence of LOS, risk factors for disease and the impact on subsequent hospital course, we evaluated a cohort of 6340 neonates admitted to the neonatal intensive care unit and of neonates (3-28 days) admitted from the community between January 2005 and January 2016. This was a retrospective case review of all neonates admitted with suspected LOS who had positive blood culture and/or cerebrospinal fluid cultures, for an organism determined to be a pathogen. Of 6340 neonates who survived beyond 3 days, 2271 (35.8%) had 1 or more blood cultures collected for suspected LOS. Of these, 146 (6.4%) positive blood cultures were thought to represent true bacteremia. The vast majority of infections (73%) were caused by Gram-positive organisms, with coagulase-negative staphylococci accounting for 39.8% of infections. Late-onset neonatal sepsis occurred predominantly in the 24-28-week age group (75.9%) and in neonates who weighed less than 1000 g (73.6%). The incubation time for positive blood cultures for Gram-negative sepsis was less (13 hours) when compared with Gram-positive sepsis (20 hours). Thrombocytopenia, elevated C-reactive protein and chorioamnionitis were consistently associated with late-onset Gram-negative sepsis (P < 0.05). Eight neonates (6%) died secondary to LOS. LOS contributes significantly to mortality and morbidity in neonates and remains a challenge to clinicians. Necessary steps to reduce late-onset neonatal sepsis should be undertaken.

  9. The emergence of adolescent onset pain hypersensitivity following neonatal nerve injury

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    Vega-Avelaira David

    2012-04-01

    Full Text Available Abstract Background Peripheral nerve injuries can trigger neuropathic pain in adults but cause little or no pain when they are sustained in infancy or early childhood. This is confirmed in rodent models where neonatal nerve injury causes no pain behaviour. However, delayed pain can arise in man some considerable time after nerve damage and to examine this following early life nerve injury we have carried out a longer term follow up of rat pain behaviour into adolescence and adulthood. Results Spared nerve injury (SNI or sham surgery was performed on 10 day old (P10 rat pups and mechanical nociceptive reflex thresholds were analysed 3, 7, 14, 21, 28, 38 and 44 days post surgery. While mechanical thresholds on the ipsilateral side are not significantly different from controls for the first 2–3 weeks post P10 surgery, after that time period, beginning at 21 days post surgery (P31, the SNI group developed following early life nerve injury significant hypersensitivity compared to the other groups. Ipsilateral mechanical nociceptive threshold was 2-fold below that of the contralateral and sham thresholds at 21 days post surgery (SNI-ipsilateral 28 (±5 g control groups 69 (±9 g, p Conclusions We report a novel consequence of early life nerve injury whereby mechanical hypersensitivity only emerges later in life. This delayed adolescent onset in mechanical pain thresholds is accompanied by neuroimmune activation and NMDA dependent central sensitization of spinal nociceptive circuits. This delayed onset in mechanical pain sensitivity may provide clues to understand the long term effects of early injury such as late onset phantom pain and the emergence of complex adolescent chronic pain syndromes.

  10. Late-onset neonatal sepsis in preterm infants with birth weight under 1.500 g

    Directory of Open Access Journals (Sweden)

    Stella Marys Rigatti Silva

    Full Text Available Objective: the research objective was to characterize preterm infants with birth weight under 1500 g, and to identify the incidence of late-onset neonatal sepsis among this population. Methods: a prospective cohort study with a sample of 30 preterm newborns that weighed under 1500 g and were hospitalized in the NICU of the university hospital. Data were collected from January to December 2013 using a structured instrument. Results: of the 30 neonates included in the study, 14 developed late-onset neonatal sepsis with a prevalence of coagulase-negative staphylococci. Conclusions: the incidence of late-onset neonatal sepsis indicates a vulnerability in preterm infants due to immunological immaturity. These results reveal that knowledge of the profile of newborn infants admitted to the NICU and the risk factors to which they are exposed are central to the planning of nursing care for these patients. Future studies should address strategies for preventing nosocomial infection.

  11. Does performing cesarean section after onset of labor has positive effect on neonatal respiratory disorders?

    Science.gov (United States)

    Senturk, Mehmet B; Cakmak, Yusuf; Gündoğdu, Mustafa; Polat, Mesut; Atac, Halit

    2016-01-01

    The aim of this study is to evaluate whether neonatal respiratory disorders relate to the onset of labor or labor pain in patients with history of previous cesarean section. This prospective controlled study comprised 164 patients, grouped according to the presence of labor and related labor pain. All patients in both groups were applied cesarean section at 38 weeks gestational age or beyond due to previous cesarean section. The cord blood pH, Apgar scores and the need for the neonatal intensive care unit were compared. There was a greater need for the neonatal intensive care unit in the control group and the cord blood pH values were higher in the study group (p  0.05). The onset of labor and related labor pain provide a positive contribution to a reduction in neonatal respiratory disorders. Therefore, it can be considered reasonable to perform a cesarean section after the onset of labor or related pain.

  12. A trial with N-carbamylglutamate may not detect all patients with NAGS deficiency and neonatal onset.

    Science.gov (United States)

    Nordenström, A; Halldin, M; Hallberg, B; Alm, J

    2007-06-01

    N-acetylglutamate synthase (NAGS) deficiency is a rare urea cycle disorder. An effective treatment, N-carbamoyl-L-glutamic acid (NCGA), is now available, increasing the importance of identifying and treating these patients early. We describe a case with genetically verified NAGS deficiency and neonatal onset of severe hyperammonaemia. The ammonia levels increased above 1400 micromol/L. The patient did not respond to NCGA treatment during the first 15 h, indicating that a delayed response or no response cannot be used as a safe indicator for excluding NAGS deficiency in the acute situation. Hence, conventional treatment should not be delayed by a diagnostic procedure, such as a loading test. Furthermore, at 3 years of age this patient has normal psychomotor development, underlining the possibility of a favourable outcome despite markedly elevated ammonia levels, coma, and seizures in the neonatal period. Including NCGA early in the treatment of patients with hyperammonaemia may be of clinical importance. In order to detect patients with NAGS deficiency and neonatal onset and to optimize care, it is important to use the available treatment strategies to reduce plasma ammonia concentrations without delay. We propose the use of combined symptomatic treatment, i.e. glucose infusion, sodium benzoate, arginine or citrulline, and when indicated haemodialysis, as well as NCGA treatment in all neonates presenting with severe hyperammonaemia. The treatment should be continued until laboratory investigations are complete or indicate another disorder.

  13. Nonsurgical Management of Early-onset Scoliosis.

    Science.gov (United States)

    Thorsness, Robert J; Faust, John R; Behrend, Caleb J; Sanders, James O

    2015-09-01

    Early-onset scoliosis is potentially fatal if left untreated. Although surgical management with growing instrumentation may be necessary, this is not a panacea and is associated with high complication rates. Recent evidence has demonstrated that nonsurgical treatment can be an effective early management strategy in delaying or even precluding the need for surgery, especially surgery with growing instrumentation. The goal of both nonsurgical and surgical management is to control or correct the spinal curve to allow appropriate pulmonary development while delaying definitive fusion until an appropriate skeletal age. Although more commonly used to delay surgery, serial cast correction using the Cotrel and Morel elongation-derotation-flexion technique may result in complete correction in patients with infantile idiopathic scoliosis and smaller curve magnitudes.

  14. [Use of lumbar puncture in the evaluation of late-onset sepsis in low birth weight neonates].

    Science.gov (United States)

    Zea-Vera, Alonso; Turín, Christie Gloria; Rueda, María Susana; Guillén-Pinto, Daniel; Medina-Alva, Pilar; Tori, Aldredo; Rivas, María; Zegarra, Jaime; Castañeda, Anne; Cam, Luis; Ochoa, Theresa J

    2016-06-01

    The objective of this study was to analyze the use of lumbar punctures (LP) in the evaluation of late-onset neonatal sepsis. It is recommended to perform an LP as part of the evaluation of late-onset sepsis. We used a cohort of 414 newborns with a birth weight late-onset sepsis is low and can result in undiagnosed and undertreated meningitis. The use of LP in the evaluation of neonatal sepsis must be encouraged in the neonatal units.

  15. Multi-drug resistant gram negative bacilli causing early neonatal sepsis in India.

    Science.gov (United States)

    Viswanathan, Rajlakshmi; Singh, Arun Kumarendu; Basu, Sulagna; Chatterjee, Suparna; Sardar, Syamal; Isaacs, David

    2012-05-01

    To study the organisms causing early and late onset neonatal sepsis, with special reference to multi-drug resistant gram negative bacilli, at two neonatal units (one urban, one rural) in India. Prospective surveillance study. There were 159 episodes of sepsis (81 urban and 77 rural) affecting 158 babies. Gram negative bacilli caused 117 infections (68%) and predominated at both centres in both early and late sepsis. Klebsiella pneumoniae was the commonest organism, causing 61 infections (38.3%). In early sepsis (0-2 days), non-fermenting gram negative bacilli caused 42.1% of infections at the urban centre; there were no cases of early Group B Streptococcus sepsis. Late onset sepsis was mainly caused by gram negative bacilli at both centres. Multi-drug resistance of over 80% of early-onset gram negative organisms to ampicillin, third generation cephalosporins and gentamicin indicates that these multi-resistant organisms are almost certainly circulating widely in the community. The overall mortality from early sepsis was 27.3% (9 of 33) and from late sepsis was 26.2% (33 of 126). Gram negative bacilli caused all deaths from early sepsis and 87.5% of deaths from late sepsis. This study shows that multi-drug resistant gram negative bacilli are a major cause of early and late neonatal sepsis in India and are almost certainly widespread in the community.

  16. Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset.

    Science.gov (United States)

    Bitoun, Marc; Bevilacqua, Jorge A; Prudhon, Bernard; Maugenre, Svetlana; Taratuto, Ana Lia; Monges, Soledad; Lubieniecki, Fabiana; Cances, Claude; Uro-Coste, Emmanuelle; Mayer, Michèle; Fardeau, Michel; Romero, Norma B; Guicheney, Pascale

    2007-12-01

    We report four heterozygous dynamin 2 (DNM2) mutations in five centronuclear myopathy patients aged 1 to 15 years. They all presented with neonatal hypotonia with weak suckling. Thereafter, their phenotype progressively improved. All patients demonstrated muscle weakness prominent in the lower limbs, and most of them also presented with facial weakness, open mouth, arched palate, ptosis, and ophthalmoparesis. Electrophysiology showed only myopathic changes, and muscle biopsies showed central nuclei and type 1 fiber hypotrophy and predominance. Our results expand the phenotypic spectrum of dynamin 2-related centronuclear myopathy from the classic mild form to the more severe neonatal phenotype.

  17. Maternal and neonatal outcomes by labor onset type and gestational age.

    Science.gov (United States)

    Bailit, Jennifer L; Gregory, Kimberly D; Reddy, Uma M; Gonzalez-Quintero, Victor H; Hibbard, Judith U; Ramirez, Mildred M; Branch, D Ware; Burkman, Ronald; Haberman, Shoshana; Hatjis, Christos G; Hoffman, Matthew K; Kominiarek, Michelle; Landy, Helain J; Learman, Lee A; Troendle, James; Van Veldhuisen, Paul; Wilkins, Isabelle; Sun, Liping; Zhang, Jun

    2010-03-01

    We sought to determine maternal and neonatal outcomes by labor onset type and gestational age. We used electronic medical records data from 10 US institutions in the Consortium on Safe Labor on 115,528 deliveries from 2002 through 2008. Deliveries were divided by labor onset type (spontaneous, elective induction, indicated induction, unlabored cesarean). Neonatal and maternal outcomes were calculated by labor onset type and gestational age. Neonatal intensive care unit admissions and sepsis improved with each week of gestational age until 39 weeks (P labor was associated with a lower risk of ventilator use (odds ratio [OR], 0.38; 95% confidence interval [CI], 0.28-0.53), sepsis (OR, 0.36; 95% CI, 0.26-0.49), and neonatal intensive care unit admissions (OR, 0.52; 95% CI, 0.48-0.57) compared to spontaneous labor. The relative risk of hysterectomy at term was 3.21 (95% CI, 1.08-9.54) with elective induction, 1.16 (95% CI, 0.24-5.58) with indicated induction, and 6.57 (95% CI, 1.78-24.30) with cesarean without labor compared to spontaneous labor. Some neonatal outcomes improved until 39 weeks. Babies born with elective induction are associated with better neonatal outcomes compared to spontaneous labor. Elective induction may be associated with an increased hysterectomy risk. Copyright 2010 Mosby, Inc. All rights reserved.

  18. Early-onset scoliosis: current treatment.

    Science.gov (United States)

    Cunin, V

    2015-02-01

    Early-onset scoliosis, which appears before the age of 10, can be due to congenital vertebral anomalies, neuromuscular diseases, scoliosis-associated syndromes, or idiopathic causes. It can have serious consequences for lung development and significantly reduce the life expectancy compared to adolescent scoliosis. Extended posterior fusion must be avoided to prevent the crankshaft phenomenon, uneven growth of the trunk and especially restrictive lung disease. Conservative (non-surgical) treatment is used first. If this fails, fusionless surgery can be performed to delay the final fusion procedure until the patient is older. The gold standard delaying surgical treatment is the implantation of growing rods as described by Moe and colleagues in the mid-1980s. These rods, which are lengthened during short surgical procedures at regular intervals, curb the scoliosis progression until the patient reaches an age where fusion can be performed. Knowledge of this technique and its complications has led to several mechanical improvements being made, namely use of rods that can be distracted magnetically on an outpatient basis, without the need for anesthesia. Devices based on the same principle have been designed that preferentially attach to the ribs to specifically address chest wall and spine dysplasia. The second category of surgical devices consists of rods used to guide spinal growth that do not require repeated surgical procedures. The third type of fusionless surgical treatment involves slowing the growth of the scoliosis convexity to help reduce the Cobb angle. The indications are constantly changing. Improvements in surgical techniques and greater surgeon experience may help to reduce the number of complications and make this lengthy treatment acceptable to patients and their family. Long-term effects of surgery on the Cobb angle have not been compared to those involving conservative "delaying" treatments. Because the latter has fewer complications associated with

  19. 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

  20. 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

  1. Autoregressive hidden Markov models for the early detection of neonatal sepsis.

    Science.gov (United States)

    Stanculescu, Ioan; Williams, Christopher K I; Freer, Yvonne

    2014-09-01

    Late onset neonatal sepsis is one of the major clinical concerns when premature babies receive intensive care. Current practice relies on slow laboratory testing of blood cultures for diagnosis. A valuable research question is whether sepsis can be reliably detected before the blood sample is taken. This paper investigates the extent to which physiological events observed in the patient's monitoring traces could be used for the early detection of neonatal sepsis. We model the distribution of these events with an autoregressive hidden Markov model (AR-HMM). Both learning and inference carefully use domain knowledge to extract the baby's true physiology from the monitoring data. Our model can produce real-time predictions about the onset of the infection and also handles missing data. We evaluate the effectiveness of the AR-HMM for sepsis detection on a dataset collected from the Neonatal Intensive Care Unit at the Royal Infirmary of Edinburgh.

  2. Urine metabolomics in neonates with late-onset sepsis in a case-control study

    Science.gov (United States)

    Sarafidis, Kosmas; Chatziioannou, Anastasia Chrysovalantou; Thomaidou, Agathi; Gika, Helen; Mikros, Emmanouel; Benaki, Dimitra; Diamanti, Elisavet; Agakidis, Charalampos; Raikos, Nikolaos; Drossou, Vasiliki; Theodoridis, Georgios

    2017-04-01

    Although late-onset sepsis (LOS) is a major cause of neonatal morbidity and mortality, biomarkers evaluated in LOS lack high diagnostic accuracy. In this prospective, case-control, pilot study, we aimed to determine the metabolic profile of neonates with LOS. Urine samples were collected at the day of initial LOS evaluation, the 3rd and 10th day, thereafter, from 16 septic neonates (9 confirmed and 7 possible LOS cases) and 16 non-septic ones (controls) at respective time points. Urine metabolic profiles were assessed using non-targeted nuclear magnetic resonance spectroscopy and targeted liquid chromatography-tandem mass spectrometry analysis. Multivariate statistical models with data from either analytical approach showed clear separation between the metabolic profiles of septic neonates (both possible and confirmed) and the controls. Metabolic changes appeared to be related to disease progression. Overall, neonates with confirmed or possible LOS exhibited comparable metabolic profiles indicating similar metabolic alternations upon the onset of clinical manifestations. This methodology therefore enabled the discrimination of neonates with LOS from non-septic individuals, providing potential for further research toward the discovery of LOS-related biomarkers.

  3. Urine metabolomics in neonates with late-onset sepsis in a case-control study

    Science.gov (United States)

    Sarafidis, Kosmas; Chatziioannou, Anastasia Chrysovalantou; Thomaidou, Agathi; Gika, Helen; Mikros, Emmanouel; Benaki, Dimitra; Diamanti, Elisavet; Agakidis, Charalampos; Raikos, Nikolaos; Drossou, Vasiliki; Theodoridis, Georgios

    2017-01-01

    Although late-onset sepsis (LOS) is a major cause of neonatal morbidity and mortality, biomarkers evaluated in LOS lack high diagnostic accuracy. In this prospective, case-control, pilot study, we aimed to determine the metabolic profile of neonates with LOS. Urine samples were collected at the day of initial LOS evaluation, the 3rd and 10th day, thereafter, from 16 septic neonates (9 confirmed and 7 possible LOS cases) and 16 non-septic ones (controls) at respective time points. Urine metabolic profiles were assessed using non-targeted nuclear magnetic resonance spectroscopy and targeted liquid chromatography-tandem mass spectrometry analysis. Multivariate statistical models with data from either analytical approach showed clear separation between the metabolic profiles of septic neonates (both possible and confirmed) and the controls. Metabolic changes appeared to be related to disease progression. Overall, neonates with confirmed or possible LOS exhibited comparable metabolic profiles indicating similar metabolic alternations upon the onset of clinical manifestations. This methodology therefore enabled the discrimination of neonates with LOS from non-septic individuals, providing potential for further research toward the discovery of LOS-related biomarkers. PMID:28374757

  4. Culture proven newborn sepsis with a special emphasis on late onset sepsis caused by Enterobacteriaceae in a level III neonatal care unit in Astana, Kazakhstan.

    Science.gov (United States)

    Kangozhinova, Kalamkas; Abentayeva, Botakoz; Repa, Andreas; Baltabayeva, Assem; Erwa, Wolfgang; Stauffer, Friedrich

    2013-10-01

    Newborn sepsis is one of the major public health concerns worldwide. Also in our neonatal care unit, it is one of the major problems and especially infections with Enterobacteriaceae were noted to pose an increasing problem in the last years. Data collection was done retrospectively for 2011. Early onset sepsis was defined as having a positive blood culture within 72 h and late onset sepsis after 72 h of delivery. Out of 599 patients being admitted, 58 newborns were assessed having a neonatal sepsis. Of these 58 newborns with sepsis, 11 were diagnosed within 72 h post delivery (early onset) and 47 were diagnosed after 72 h post delivery (late onset). The percentage of Enterobacteriaceae causing late onset sepsis was 57.5 %. Among these, Klebsiella pneumoniae could be isolated in 29.8 %, Enterobacter cloacae in 12.8 %, Enterobacter aerogenes in 8.5 %, and Escherichia coli in 6.4 % of late onset sepsis. Majority of the strains showed a resistance to antibiotics used in empiric treatment. Antibiotic prophylaxis/treatment from birth until the onset of late onset sepsis could be analyzed in 20 out of 27 newborns with late onset sepsis caused by Enterobacteriaceae. A regimen of empirical antibiotic treatment containing aminopenicillin and/or gentamicin was administered in 16 newborns and that of cephalosporin in 14 out of 20 newborns for at least 5 days before onset of sepsis. The association of empiric long-term antibiotic treatment and the high number of late onset sepsis with often multiresistant Enterobacteriaceae might be causal and urges for a change in general antibiotic prophylaxis/treatment in newborns admitted to the neonatal care unit of our hospital.

  5. [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.

  6. Clinical characteristics of early- and late-onset gout

    Science.gov (United States)

    Zhang, Bingqing; Fang, Weigang; Zeng, Xuejun; Zhang, Yun; Ma, Ya; Sheng, Feng; Zhang, Xinlei

    2016-01-01

    Abstract A retrospective cross-sectional study using data from an outpatient clinic in China was conducted to investigate the clinical features of early-onset gout patients. All patients diagnosed with gout were asked about clinical characteristics of their gout and comorbid diseases. Patients presenting with acute flares were asked about common triggers before the flare. “Early-onset” gout was defined as onset of gout before 40 years and “late-onset” as onset ≥40 years. Major joint involvement, flare frequency before presentation, the cumulative number of involved joints, proportions of tophi complications at presentation, flare triggers, as well as any metabolic, cardiovascular, cerebrovascular, and renal comorbidities, were compared between the 2 groups. A total of 778 gout patients were enrolled in this study, including 449 (57.7%) in the early-onset group and 329 (42.3%) in the late-onset group. Compared with the late-onset gout patients, the early-onset gout patients had a higher proportion of ankle/mid-foot involvement (62.8% vs 48.2%, P gout patients had fewer metabolic, cardiovascular, cerebrovascular, or renal complications. Early- and late-onset gout patients had different clinical features. Early-onset seems to be influenced more by lifestyle, while late-onset patients have more complications because of comorbidities. PMID:27893683

  7. 对疑诊新生儿早发脓毒症经验性抗生素应用评价%Evaluation of empirical antibiotic therapy for suspected neonatal early-onset sepsis

    Institute of Scientific and Technical Information of China (English)

    潘千; 余加林

    2016-01-01

    目的 评价疑诊新生儿早发脓毒症(early-onset sepsis,EOS)经验性抗生素应用的合理性.方法 对重庆医科大学附属儿童医院新生儿中心病房2015-6-01-2015-07-31入院即怀疑EOS者抗生素应用情况进行回顾性分析.按其确诊结果分为非脓毒症组和脓毒症组,主要调查抗生素应用情况.结果 疑诊的217例中非脓毒症组122例、脓毒症组95例.入院首选抗生素为青霉素+拉氧头孢,其中非脓毒症组占68.4%,脓毒症组占64.5%.非脓毒症组抗生素初始阶段(<3 d)不合理应用有16例(13.1%),抗生素持续阶段(≥3 d)不合理应用有77例(63.1%).脓毒症组抗生素初始阶段不合理应用有9例(9.5%),抗生素持续阶段不合理应用有49例(51.6%).结论 疑诊EOS的抗生素不合理应用情况较严重,需要建立新生儿抗生素管理团队,协助指导新生儿病房EOS抗生素的规范应用.

  8. Attention Deficit Hyperactivity Disorder Symptoms Mediate Early-Onset Smoking

    NARCIS (Netherlands)

    Huizink, A.C.; Lier, P.A.C. van; 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 c

  9. 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 c

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

    NARCIS (Netherlands)

    A.C. Huizink (Anja); P.A.C. van Lier (Pol); A.A.M. Crijnen (Alfons)

    2008-01-01

    textabstractBackground/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,

  11. 高龄孕妇早发型重度先兆子痫对新生儿及围生结局影响分析%THE EFFECT OF EARLY ONSET SEVERE PRE- ECLAMPSIA OF ADVANCED AGE PREGNANT WOMEN ON NEONATAL AND PERINATAL OUTCOMES

    Institute of Scientific and Technical Information of China (English)

    胡水珍; 叶春波

    2011-01-01

    目的 分析高龄孕妇早发型重度先兆子痫对新生儿及围生结局的影响.方法 回顾性分析1997年1月-2010年1月早发型重度先兆子痫孕妇86例,其中年龄>35岁40例,设为研究组,年龄0.05).终止妊娠时间及孕妇严重并发症,差异有统计学意义(P<0.01).研究组围生儿病死率及颅内出血,新生儿窒息明显高于对照组(P<0.01).研究组新生儿出生体质量及新生儿Apgar评分明显小于对照组(P<0.01).结论 年龄>35岁孕妇发生早发性重度子痫,更易导致孕妇及围生儿预后不良.%Objective To analyze the effect of early onset severe pre - eclampsia( EOSP ) of advanced age pregnant women on neonatal and perinatal outcomes. Methods Eighty - six pregnant women with EOSP from Jan 1997 to Jan 2010 were chosen and analysed. According to the maternal age, 86 pregnant women with EOSP were classified into two groups, research group( the maternal age was up to 35 years and 40 patients were involved ) and control group( the maternal age was under 35 years and 46 patients were involved ). The parity, gestational age on admission, systolic pressure( SP ) and diastolic pressure( DP ) were recorded. And the pregnant outcomes of gravidas ( such as placental abruption, pneumonedema, heart failure ) and complications of perineal infants( such as perinatal mortality ratio, low birth weight, intracranial hemorrhage, neonatal asphyxia, Apgar score ) were recorded and compared between two groups. Results The parity, gestational age on admission, SP and DP had no different between two groups( P > 0.05 ). The duration of pregnancy termination and severe complication were different between two groups (P < 0. 01 ). Compared to control group, the perinatal mortality ratio, intracranial hemorrhage and neonatal asphyxia in research group were higher ( P < 0.01 ), and the birth weight, Apgar score in research group were lower ( P < 0.01 ). Conclusion The EOSP of advanced age pregnant women could

  12. Profile of newborns undergoing early stimulation in a neonatal intensive care unit

    National Research Council Canada - National Science Library

    Karla Camila Lima de Souza; Nataly Gurgel Campos; Francisco Fleury Uchoa Santos Júnior

    2014-01-01

    Objective: To describe the profile of newborns undergoing early stimulation in a neonatal intensive care unit, characterizing the study population according to their neonatal variables and risk factors...

  13. Neonatal Respiratory Distress Syndrome: Early Diagnosis, Prevention, and Treatment

    Directory of Open Access Journals (Sweden)

    S. A. Perepelitsa

    2012-01-01

    Full Text Available to improve treatment results in premature infants with neonatal respiratory distress syndrome (NRDS, by establishing developmental mechanisms and elaborating methods for its early diagnosis, treatment, and prevention. Material and methods. The paper analyzes the results of a clinical observation and laboratory, instrumental, immunological, morphological, and radiological studies of 320 premature neonates at 26—35 weeks gestational age. The following groups of neonates were identified: 1 40 premature neonatal infants without NRDS and with the physiological course of an early neonatal period (a comparison group; 2 190 premature neonates with severe NRDS in whom the efficiency of therapy with exogenous surfactants, such as surfactant BL versus curosurf, was evaluated; 3 90 premature newborn infants who had died from NRDS at its different stages. Results. The poor maternal somatic, obstetric, and gynecological histories in the early periods of the current pregnancy create prerequisites for its termination, favor the development of severe acute gestosis, and cause abnormal placental changes. Each gestational age is marked by certain placental changes that promote impaired uterineplacentalfetal blood flow and premature birth. Alveolar and bronchial epithelial damages, including those ante and intranatally, microcircula tory disorders play a leading role in the tanatogenesis of NRDS. Intranatal hypoxia and amniotic fluid aspiration are one of the important factors contributing to alveolar epithelial damage and NRDS in premature neonates. Exogenous surfactants prevent the development of hyaline membranes and are useful in the normalization of ventilation-perfusion relationships and lung biomechanical properties. Conclusion. This study could improve the diagnosis and treatment of NRDS, which assisted in reducing the duration of mechanical ventilation from 130±7.6 to 65±11.6 hours, the number of complications (the incidence of intragastric

  14. Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia.

    Science.gov (United States)

    Schwarz, N; Hahn, A; Bast, T; Müller, S; Löffler, H; Maljevic, S; Gaily, E; Prehl, I; Biskup, S; Joensuu, T; Lehesjoki, A-E; Neubauer, B A; Lerche, H; Hedrich, U B S

    2016-02-01

    Mutations in SCN2A cause epilepsy syndromes of variable severity including neonatal-infantile seizures. In one case, we previously described additional childhood-onset episodic ataxia. Here, we corroborate and detail the latter phenotype in three further cases. We describe the clinical characteristics, identify the causative SCN2A mutations and determine their functional consequences using whole-cell patch-clamping in mammalian cells. In total, four probands presented with neonatal-onset seizures remitting after five to 13 months. In early childhood, they started to experience repeated episodes of ataxia, accompanied in part by headache or back pain lasting minutes to several hours. In two of the new cases, we detected the novel mutation p.Arg1882Gly. While this mutation occurred de novo in both patients, one of them carries an additional known variant on the same SCN2A allele, inherited from the unaffected father (p.Gly1522Ala). Whereas p.Arg1882Gly alone shifted the activation curve by -4 mV, the combination of both variants did not affect activation, but caused a depolarizing shift of voltage-dependent inactivation, and a significant increase in Na(+) current density and protein production. p.Gly1522Ala alone did not change channel gating. The third new proband carries the same de novo SCN2A gain-of-function mutation as our first published case (p.Ala263Val). Our findings broaden the clinical spectrum observed with SCN2A gain-of-function mutations, showing that fairly different biophysical mechanisms can cause a convergent clinical phenotype of neonatal seizures and later onset episodic ataxia.

  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. SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain.

    Science.gov (United States)

    Liao, Y; Anttonen, A-K; Liukkonen, E; Gaily, E; Maljevic, S; Schubert, S; Bellan-Koch, A; Petrou, S; Ahonen, V E; Lerche, H; Lehesjoki, A-E

    2010-10-19

    Inherited and de novo mutations in sodium channel genes underlie a variety of channelopathies. Mutations in SCN2A, encoding the brain sodium channel Na(V)1.2, have previously been reported to be associated with benign familial neonatal infantile seizures, febrile seizures plus, and intractable epilepsy of infancy. We evaluated the clinical characteristics in a patient with a neonatal-onset complex episodic neurologic phenotype. We screened SCN2A for mutations and carried out in vitro electrophysiologic analyses to study the consequences of the identified mutation. We studied the developmental expression of Na(V)1.2 in cerebellum by immunohistochemical analysis. The patient presented with neonatal-onset seizures and variable episodes of ataxia, myoclonia, headache, and back pain after 18 months of age. The patient carries a de novo missense mutation (p.Ala263Val) in SCN2A, which leads to a pronounced gain-of-function, in particular an increased persistent Na(+) current. Immunohistochemical studies suggest a developmentally increasing expression of Na(V)1.2 in granule cell axons projecting to Purkinje neurons. These results can explain a neuronal hyperexcitability resulting in seizures and other episodic symptoms extending the spectrum of SCN2A-associated phenotypes. The developmentally increasing expression of Na(V)1.2 in cerebellum may be responsible for the later onset of episodic ataxia.

  17. Neonatal mortality and stillbirths in early twentieth century Derbyshire, England.

    Science.gov (United States)

    Reid, A

    2001-11-01

    Neonatal mortality and stillbirths are recognised to be subject to similar influences, but survival after a successful live birth is usually considered in isolation of foetal wastage. Moreover, individual-level data on age-specific influences and causes of death in a historical context are rare. This paper uses an unusual data set to compare the influences on neonatal mortality and stillbirths in early twentieth century Derbyshire, England. Multivariate hazard and logistic analyses are performed to examine the relative roles of various social, environmental, and demographic factors. The influences on and causal structures of neonatal mortality and stillbirths emerge as broadly similar, with previous reproductive history linked to a considerable amount of variation. The clustering of endogenous deaths was much greater than the clustering of exogenous and post-neonatal deaths, probably reflecting the cause-of-death structure and the relatively healthy social and environmental position of early twentieth century Derbyshire.

  18. Maternal and feto-placental phenotypes of early-onset severe preeclampsia.

    Science.gov (United States)

    Pilliod, Rachel A; Feinberg, Bruce B; Burwick, Richard M

    2016-01-01

    To characterize maternal and feto-placental phenotypes of severe preeclampsia that trigger early-onset delivery. A retrospective cohort review of pregnant women receiving care from 2000 to 2010. Subjects with early-onset severe preeclampsia delivering between 20 and 32 weeks were identified excluding multiple gestations or major anomalies. We defined indications for delivery as maternal (i.e. severe headache or abnormal laboratory parameters), feto-placental (i.e. non-reassuring tracing) or mixed (i.e. both maternal and feto-placental factors). To characterize the groups, demographic, clinical, laboratory, ultrasound and pathology data were abstracted. Statistical analysis was conducted. We identified 164 subjects meeting inclusion criteria. Indications for delivery were maternal (57.3%), feto-placental (29.9%) or mixed (12.8%). Compared to neonates delivered for maternal indications, birthweight was significantly lower among neonates delivered for feto-placental or mixed indications (p feto-placental factors (p = 0.02). Women delivered for maternal indications had more significant lab abnormalities than women delivered for feto-placental or mixed indications. In attempting to classify early-onset severe preeclampsia by delivery indication, we found patterns to suggest that feto-placental and maternal phenotypes of disease may have distinct pathophysiologic underpinnings.

  19. DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease

    NARCIS (Netherlands)

    Olgiati, Simone; Quadri, Marialuisa; Fang, Mingyan; Rood, Janneke P. M. A.; Saute, Jonas A.; Chien, Hsin Fen; Bouwkamp, Christian G.; Graafland, Josja; Minneboo, Michelle; Breedveld, Guido J.; Zhang, Jianguo; Verheijen, Frans W.; Boon, Agnita J. W.; Kievit, Anneke J. A.; Jardim, Laura Bannach; Mandemakers, Wim; Barbosa, Egberto Reis; Rieder, Carlos R. M.; Leenders, Klaus L.; Wang, Jun; Bonifati, Vincenzo

    ObjectiveDNAJC6 mutations were recently described in two families with autosomal recessive juvenile parkinsonism (onset age MethodsThe DNAJC6 open reading frame was analyzed in 274 patients with early-onset sporadic or familial PD. Selected variants were followed up by cosegregation, homozygosity

  20. Lost human capital from early-onset chronic depression.

    Science.gov (United States)

    Berndt, E R; Koran, L M; Finkelstein, S N; Gelenberg, A J; Kornstein, S G; Miller, I M; Thase, M E; Trapp, G A; Keller, M B

    2000-06-01

    Chronic depression starts at an early age for many individuals and could affect their accumulation of "human capital" (i.e., education, higher amounts of which can broaden occupational choice and increase earnings potential). The authors examined the impact, by gender, of early- (before age 22) versus late-onset major depressive disorder on educational attainment. They also determined whether the efficacy and sustainability of antidepressant treatments and psychosocial outcomes vary by age at onset and quantified the impact of early- versus late-onset, as well as never-occurring, major depressive disorder on expected lifetime earnings. The authors used logistic and multivariate regression methods to analyze data from a three-phase, multicenter, double-blind, randomized trial that compared sertraline and imipramine treatment of 531 patients with chronic depression aged 30 years and older. These data were integrated with U.S. Census Bureau data on 1995 earnings by age, educational attainment, and gender. Early-onset major depressive disorder adversely affected the educational attainment of women but not of men. No significant difference in treatment responsiveness by age at onset was observed after 12 weeks of acute treatment or, for subjects rated as having responded, after 76 weeks of maintenance treatment. A randomly selected 21-year-old woman with early-onset major depressive disorder in 1995 could expect future annual earnings that were 12%-18% lower than those of a randomly selected 21-year-old woman whose onset of major depressive disorder occurred after age 21 or not at all. Early-onset major depressive disorder causes substantial human capital loss, particularly for women. Detection and effective treatment of early-onset major depressive disorder may have substantial economic benefits.

  1. Automatic segmentation of the hippocampus for preterm neonates from early-in-life to term-equivalent age

    Directory of Open Access Journals (Sweden)

    Ting Guo

    2015-01-01

    Conclusions: MAGeT-Brain is capable of segmenting hippocampi accurately in preterm neonates, even at early-in-life. Hippocampal asymmetry with a larger right side is demonstrated on early-in-life images, suggesting that this phenomenon has its onset in the 3rd trimester of gestation. Hippocampal volume assessed at the time of early-in-life and term-equivalent age is linearly associated with GA at birth, whereby smaller volumes are associated with earlier birth.

  2. Blood-Based Biomarkers of Early-Onset Breast Cancer

    Science.gov (United States)

    2015-10-01

    AWARD NUMBER: W81XWH-13-1-0214 TITLE: Blood -based biomarkers of early-onset breast cancer PRINCIPAL INVESTIGATOR: Nasim Ahmadiyeh...DATES COVERED 30 Sep 2014 - 29 Sep 2015 4. TITLE AND SUBTITLE Blood -based biomarkers of early-onset breast cancer 5a. CONTRACT NUMBER W81XWH-13-1...While the normal breast is the ideal tissue in which to study this phenomenon, gene expression profiling of blood lymphocytes has been successfully

  3. DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease.

    Science.gov (United States)

    Olgiati, Simone; Quadri, Marialuisa; Fang, Mingyan; Rood, Janneke P M A; Saute, Jonas A; Chien, Hsin Fen; Bouwkamp, Christian G; Graafland, Josja; Minneboo, Michelle; Breedveld, Guido J; Zhang, Jianguo; Verheijen, Frans W; Boon, Agnita J W; Kievit, Anneke J A; Jardim, Laura Bannach; Mandemakers, Wim; Barbosa, Egberto Reis; Rieder, Carlos R M; Leenders, Klaus L; Wang, Jun; Bonifati, Vincenzo

    2016-02-01

    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 first time, we report DNAJC6 mutations in early-onset Parkinson's disease (PD). The DNAJC6 open reading frame was analyzed in 274 patients with early-onset sporadic or familial PD. Selected variants were followed up by cosegregation, homozygosity mapping, linkage analysis, whole-exome sequencing, and protein studies. We identified two families with different novel homozygous DNAJC6 mutations segregating with PD. In each family, the DNAJC6 mutation was flanked by long runs of homozygosity within highest linkage peaks. Exome sequencing did not detect additional pathogenic variants within the linkage regions. In both families, patients showed severely decreased steady-state levels of the auxilin protein in fibroblasts. We also identified a sporadic patient carrying two rare noncoding DNAJC6 variants possibly effecting RNA splicing. All these cases fulfilled the criteria for a clinical diagnosis of early-onset PD, had symptoms onset in the third-to-fifth decade, and slow disease progression. Response to dopaminergic therapies was prominent, but, in some patients, limited by psychiatric side effects. The phenotype overlaps that of other monogenic forms of early-onset PD. Our findings delineate a novel form of hereditary early-onset PD. Screening of DNAJC6 is warranted in all patients with early-onset PD compatible with autosomal recessive inheritance. Our data provide further evidence for the involvement of synaptic vesicles endocytosis and trafficking in PD pathogenesis. © 2016 American Neurological Association.

  4. Early-onset colorectal cancer: a sporadic or inherited disease?

    Science.gov (United States)

    Stigliano, Vittoria; Sanchez-Mete, Lupe; Martayan, Aline; Anti, Marcello

    2014-09-21

    Colorectal cancer is the third most common cancer diagnosed worldwide. Although epidemiology data show a marked variability around the world, its overall incidence rate shows a slow but steady decrease, mainly in developed countries. Conversely, early-onset colorectal cancer appears to display an opposite trend with an overall prevalence in United States and European Union ranging from 3.0% and 8.6%. Colorectal cancer has a substantial proportion of familial cases. In particular, early age at onset is especially suggestive of hereditary predisposition. The clinicopathological and molecular features of colorectal cancer cases show a marked heterogeneity not only between early- and late-onset cases but also within the early-onset group. Two distinct subtypes of early-onset colorectal cancers can be identified: a "sporadic" subtype, usually without family history, and an inherited subtype arising in the context of well defined hereditary syndromes. The pathogenesis of the early-onset disease is substantially well characterized in the inherited subtype, which is mainly associated to the Lynch syndrome and occasionally to other rare mendelian diseases, whereas in the "sporadic" subtype the origin of the disease may be attributed to the presence of various common/rare genetic variants, so far largely unidentified, displaying variable penetrance. These variants are thought to act cumulatively to increase the risk of colorectal cancer, and presumably to also anticipate its onset. Efforts are ongoing in the attempt to unravel the intricate genetic basis of this "sporadic" early-onset disease. A better knowledge of molecular entities and pathways may impact on family-tailored prevention and clinical management strategies.

  5. Brain structure abnormalities in early-onset and adolescent-onset conduct disorder.

    Science.gov (United States)

    Fairchild, Graeme; Passamonti, Luca; Hurford, Georgina; Hagan, Cindy C; von dem Hagen, Elisabeth A H; van Goozen, Stephanie H M; Goodyer, Ian M; Calder, Andrew J

    2011-06-01

    The developmental taxonomic theory proposes that neurodevelopmental factors play a critical role in the etiology of early-onset conduct disorder, whereas adolescent-onset conduct disorder arises as a result of social mimicry of deviant peers. Recent studies have challenged this theory by demonstrating that adolescents with both early- and adolescent-onset forms of conduct disorder show impaired emotional learning and abnormal neural activation during facial expression processing. The present study extends this work by investigating brain structure in both subtypes of conduct disorder. Voxel-based morphometry was used to compare gray matter volumes in four regions of interest (amygdala, insula, anterior cingulate, and orbitofrontal cortex) in male adolescents with early-onset (N=36) or adolescent-onset (N=27) conduct disorder and in healthy comparison subjects (N=27). Whole-brain structural analyses were also performed. The combined conduct disorder group displayed gray matter volume reductions in the bilateral amygdala, extending into the insula, relative to healthy comparison subjects. Separate comparisons between healthy subjects and each conduct disorder subgroup revealed lower amygdala volume in both subgroups and reduced right insula volume in the adolescent-onset subgroup. Regression analyses within the conduct disorder subjects alone demonstrated a negative correlation between conduct disorder symptoms and right insula volume. The results demonstrate that gray matter volume reductions in brain regions involved in processing socioemotional stimuli are associated with conduct disorder, regardless of age of onset. Brain structural abnormalities may contribute to the emergence of adolescent-onset as well as early-onset conduct disorder.

  6. Early intervention care programme for parents of neonates

    Directory of Open Access Journals (Sweden)

    W Lubbe

    2005-09-01

    Full Text Available Parents with neonates in the neonatal intensive care unit (NICU experience different needs at different stages of their neonates’ stay in the NICU. The needs of parents with neonates in NICU’s play an important role in aspects such as the ability to cope with changing parental roles and emotions, the relationship between parent and infant and the managing of the parents’ own needs. The aim of this study was to develop an intervention care programme for parents with neonates in the NICU. This intervention care programme will empower parents to manage their own needs and the needs of their neonates while the neonate is admitted to the NICU and after discharge from the NICU / hospital. Literature is available on care programmes for neonates, but not on programmes for the parents of neonates in NICU. The study was a multi-phased study, using qualitative methodologies to determine the needs of South African parents with neonates in level III NICU’s. In phase I, the needs of parents with neonates in NICU were elicited qualitatively. The needs were identified from the data and the results led to the implementation of phase II. In phase II the question was adjusted and new data was collected. Phase III was implemented to validate the data derived from phases I and II. The data was categorised in different need categories and these categories were used to plan an intervention care programme for parents with neonates in NICU’s. The programme provides information to address needs as identified by parents in the research study and as derived from the literature. Need categories identified from the study and literature were as follows: information, communication, emotional, learning, discharge and individual needs. This programme is available in electronic format to enable parents to obtain information according to their changing needs and to provide unlimited access to updated information. The “Early intervention care programme for parents of

  7. Markers of neurodevelopmental impairments in early-onset psychosis

    Directory of Open Access Journals (Sweden)

    Petruzzelli MG

    2015-07-01

    Full Text Available Maria Giuseppina Petruzzelli,1 Lucia Margari,1 Francesco Craig,1 Maria Gloria Campa,1 Domenico Martinelli,2 Adriana Pastore,3 Marta Simone,1 Francesco Margari3 1Child and Adolescence Neuropsychiatry Unit, Department of Basic Medical Sciences, Neuroscience and Sense Organs, University “Aldo Moro” of Bari, 2Department of Medical and Surgical Sciences; University of Foggia, Foggia, 3Psychiatry Unit, Department of Basic Medical Sciences, Neuroscience and Sense Organ, University “Aldo Moro” of Bari, Bari, Italy Background: The aim of this study was to assess the association between the clinical and neurobiological markers of neurodevelopmental impairments and early-onset schizophrenia spectrum psychosis. Methods: A sample of 36 patients with early-onset schizophrenia spectrum psychosis was compared to a control sample of 36 patients with migraine. We assessed early childhood neurodevelopmental milestones using a modified version of the General Developmental Scale, general intellectual ability using the Wechsler Intelligence Scale for Children–Revised or Leiter International Performance Scale–Revised for patients with speech and language abnormalities, and neurological soft signs with specific regard to subtle motor impairment. Results: Subjects with early-onset psychosis had a higher rate of impaired social development (P=0.001, learning difficulties (P=0.04, enuresis (P=0.0008, a lower intelligence quotient (P<0.001, and subtle motor impairments (P=0.005 than control subjects. Conclusion: We suggest that neurodevelopment in early-onset psychosis is characterized by a global impairment of functional and adaptive skills that manifests from early childhood, rather than a delay or limitation in language and motor development. The current evidence is based on a small sample and should be investigated in larger samples in future research. Keywords: early-onset psychosis, early-onset schizophrenia, neurodevelopment, social cognition

  8. Early neonatal sepsis at tertiary care teaching hospital

    Institute of Scientific and Technical Information of China (English)

    Muhammad Javed; Abdul Majid Memon

    2009-01-01

    Objective:To study organisms in cases of early neonatal sepsis, and sensitivity patterns of these isolates. Methods: All pregnant mothers admitted from Jan 2006-Dec 2006 were registered. Neonates delivered at the hospital were examined upto 72 hours of birth, with special emphasis on the signs and symp-toms of suspected sepsis. Neonates with no maternal or neonatal risk factor were included in the study, blood examination and appropriate cultures were taken. Antibiotics as cephatexime and amikacin were started on em-pirical bases until final cultures report was received. In cases of negative cultures, antibiotics were stopped. Other wise it continued according to culture and sensitivity for 10 to 14 days. Results: Among these 257 ca-ses, 113 neonates full filled our criteria. Staph aureus being the commonest organism in our study (59.29%) followed by KlebsieUa pneumoniae (19.47%) and Entrococci (19.47%). These findings are not consistent with other studies in the country. Conclusion: Neonatal sepsis is a major cause of mortality and morbidity. Choice of antibiotic should depend on the local studies from time to time.

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

    Science.gov (United States)

    2016-10-01

    additionally discovered SFPN that affects adolescents and adults [2]. This early-onset SFPN usually begins in adolescence or early adulthood but can...promote early diagnosis. What was the impact on other disciplines? Nothing to report. What was the impact on technology transfer? Nothing to report...What was the impact on society beyond science and technology ? As described above, Veterans’ health and, by extension, public health will be

  10. Copeptin concentration in cord blood in infants with early-onset sepsis, chorioamnionitis and perinatal asphyxia

    Directory of Open Access Journals (Sweden)

    Aebi Christoph

    2011-05-01

    Full Text Available Abstract Background Vasopressin is one of the most important physiological stress and shock hormones. Copeptin, a stable vasopressin precursor, is a promising sepsis marker in adults. In contrast, its involvement in neonatal diseases remains unknown. The aim of this study was to establish copeptin concentrations in neonates of different stress states such as sepsis, chorioamnionitis and asphyxia. Methods Copeptin cord blood concentration was determined using the BRAHMS kryptor assay. Neonates with early-onset sepsis (EOS, n = 30, chorioamnionitis (n = 33 and asphyxia (n = 25 were compared to a control group of preterm and term (n = 155 neonates. Results Median copeptin concentration in cord blood was 36 pmol/l ranging from undetectable to 5498 pmol/l (IQR 7 - 419. Copeptin cord blood concentrations were non-normally distributed and increased with gestational age (p Conclusions Copeptin concentrations were strongly related to factors associated with perinatal stress such as birth acidosis, asphyxia and vaginal delivery. In contrast, copeptin appears to be unsuitable for the diagnosis of EOS.

  11. Are Global Coagulation and Platelet Parameters Useful Markers for Predicting Late-Onset Neonatal Sepsis?.

    Science.gov (United States)

    Lu, Qi; Duan, Hongmei; Yu, Jialin; Yao, Yao

    2016-01-01

    Diagnosis of neonatal sepsis is difficult because of the nonspecific nature of the clinical presentation. Inflammation and coagulation can activate each other. Coagulation activation can occur in the early phase of sepsis. The main purposes of this study were to investigate the value of platelet parameters and coagulation parameters in predicting neonatal sepsis. The study included 650 patients: 490, Group I (330 proven and 160 clinical sepsis cases), and 160, Group II (control group). Platelet count (PLT), mean platelet volume (MPV), platelet distribution width (PDW), thrombocytocrit, prothrombin time (PT), and activated partial thromboplastin time (APTT) were measured. The parameters were determined before diagnosis of sepsis. Receiver-operating characteristic (ROC) curves were analyzed to determine the optimal thresholds. The optimum cutoff value, sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) were calculated for each potential marker. The MPV, PDW, PT, and CRP values were found to be increased while PLT decreased significantly in sepsis patients. ROC curve analysis showed that PT and PLT were better than PDW and MPV for the diagnosis of sepsis. Further, combining PT (17.85 s) and CRP (8.5 mg/L) can enhance the diagnostic accuracy of sepsis, with a sensitivity, specificity, PPV, and NPV of 77.9, 83.1, 58.2, and 92.6%, respectively. PT has a potential to be an additional indicator for neonatal sepsis, the combined use of PT and other markers such as CRP should be considered in the early diagnosis of neonatal sepsis.

  12. 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.

  13. Brain Biomarkers of Long-Term Outcome of Neonatal Onset Urea Cycle Disorder

    Directory of Open Access Journals (Sweden)

    Maha Mourad

    2016-11-01

    Full Text Available Urea cycle disorders (UCDs are common inborn errors of metabolism, with an incidence of one in 30,000 births. They are caused by deficiencies in any of six enzymes and two carrier proteins, the most common being Ornithine Transcarbamylase Deficiency (OTCD. OTCD results in impairment to excrete nitrogen, causing toxic buildup of ammonia with resultant encephalopathy. Hyperammonemia (HA induces the conversion of glutamate to glutamine in the brain. Excess glutamine in the brain causes osmotic changes, cerebral edema, changes in astrocyte morphology, and cell death. Acute symptoms of HA include vomiting, hyperventilation, seizures, and irritability. Long-term neurological effects include deficits in working memory and executive function. To date, there are no predictors of prognosis of infants with neonatal onset OTCD outside of the plasma ammonia level at presentation and duration of a hyperammonemic coma. We provide a comprehensive analysis of a 16-year-old male with neonatal onset of OTCD as an example of how brain biomarkers may be useful to monitor disease course and outcome. This male presented at 8 days of life with plasma ammonia and glutamine of 677 and 4024 micromol/L respectively, and was found to have a missense mutation in Exon 4 (p. R129H. Treatment included protein restriction, sodium benzoate, and citrulline, arginine, and iron. Despite compliance, he suffered recurrent acute hyperammonemic episodes triggered by infections or catabolic stressors. We discuss the long-term effects of the hyperammonemic episodes by following MRI-based disease biomarkers.

  14. Differences between early and late onset adult depression

    DEFF Research Database (Denmark)

    Drachmann Bukh, Jens; Bock, Camilla; Vinberg, Maj

    2011-01-01

    episode depression were systematically recruited. Characteristics including psychiatric co-morbidity, personality disorders and traits, stressful life events prior to onset, family history, and treatment outcome were assessed by structured interviews and compared by chi-square tests for categorical data...... prevalence of co-morbid personality disorders, higher levels of neuroticism, and a lower prevalence of stressful life events preceding onset compared to patients with later age-of-onset. There were no differences in severity of the depressive episode, treatment outcome or family loading of psychiatric......, t-tests for continuous parametric data and Mann-Whitney U-test for continuous nonparametric data. Logistic and multiple regression analyses were used to adjust the analyses for potentially confounding variables. Results: Patients with early onset of depression were characterised by a higher...

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

    Directory of Open Access Journals (Sweden)

    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.

  16. Early-Onset Bipolar Spectrum Disorders: Diagnostic Issues

    Science.gov (United States)

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

    2009-01-01

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

  17. Early-Onset Psychosis in Youth with Intellectual Disability

    Science.gov (United States)

    Friedlander, R. I.; Donnelly, T.

    2004-01-01

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

  18. Genetics Home Reference: early-onset myopathy with fatal cardiomyopathy

    Science.gov (United States)

    ... called sarcomeres . Sarcomeres are the basic units of muscle contraction; they are made of proteins that generate the mechanical force needed for muscles to contract. Titin has several functions within sarcomeres. One of this protein's most ... CMD Salih congenital muscular dystrophy Salih myopathy titinopathy & early-onset myopathy with ...

  19. Early identification of 'acute-onset' chronic inflammatory demyelinating polyneuropathy.

    Science.gov (United States)

    Sung, Jia-Ying; Tani, Jowy; Park, Susanna B; Kiernan, Matthew C; Lin, Cindy Shin-Yi

    2014-08-01

    Distinguishing patients with acute-onset chronic inflammatory demyelinating polyneuropathy from acute inflammatory demyelinating polyneuropathy prior to relapse is often challenging at the onset of their clinical presentation. In the present study, nerve excitability tests were used in conjunction with the clinical phenotype and disease staging, to differentiate between patients with acute-onset chronic inflammatory demyelinating polyneuropathy and patients with acute inflammatory demyelinating polyneuropathy at an early stage, with the aim to better guide treatment. Clinical assessment, staging and nerve excitability tests were undertaken on patients initially fulfilling the diagnostic criteria of acute inflammatory demyelinating polyneuropathy soon after symptom onset and their initial presentation. Patients were subsequently followed up for minimum of 12 months to determine if their clinical presentations were more consistent with acute-onset chronic inflammatory demyelinating polyneuropathy. Clinical severity as evaluated by Medical Research Council sum score and Hughes functional grading scale were not significantly different between the two cohorts. There was no difference between the time of onset of initial symptoms and nerve excitability test assessment between the two cohorts nor were there significant differences in conventional nerve conduction study parameters. However, nerve excitability test profiles obtained from patients with acute inflammatory demyelinating polyneuropathy demonstrated abnormalities in the recovery cycle of excitability, including significantly reduced superexcitability (P chronic inflammatory demyelinating polyneuropathy, a different pattern occurred with the recovery cycle shifted downward (increased superexcitability, P inflammatory demyelinating polyneuropathy and acute-onset chronic inflammatory demyelinating polyneuropathy could be clearly separated into two non-overlapping groups. Studies of nerve excitability may be able to

  20. 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

  1. 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.

  2. 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.

  3. Does early-onset multiple sclerosis differ from adult-onset form in Iranian people

    Directory of Open Access Journals (Sweden)

    Fereshteh Ashtari

    2010-01-01

    Full Text Available Background: Few studies have attempted to delineate the clinical profile of multiple Sclerosis (MS among people of Asia. This study sought to identify the characteristics of early-onset Multiple Sclerosis (EOMS comparison to adult-onset form (AOMS in Isfahan, IRAN. Methods: This prospective study was conducted on 104 youths with multiple sclerosis beginning before the age of 16 years and 123 patients with adult-onset multiple sclerosis. Patients were observed for a mean period of 5 years. The common presenting symptoms, MRI finding, course of disease and disability score were compared between the two groups. Results: The mean onset age of disease in youths and adults were 14 ± 1.9 and 27.7 ± 8.06 years, respectively. Female/male ratio was 4.47:1 in EOMS and 3.92:1 in AOMS, this ratio was 7:1 in early childhood MS (≤ 10 year. The most common presenting symptom was optic neuritis in the EOMS group and paresthesia in AOMS. Optic neuritis was common in AOMS too, but brainstem/cerebellar signs were more common in EOMS than AOMS. Seizure occurred more frequently in EOMS than in the AOMS group (12.6% vs. 1.6%, respectively, p < 0.001. MRI showed that brainstem plaques were more prevalent in the EOMS compared with the AOMS group. Conclusions: It was concluded that early-onset MS does not significantly differ from adult form in terms of major clinical manifestation and course of disease, however Seizure is more common in EOMS, and brainstem and cerebellar symptoms as presenting symptom are more common.

  4. Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations.

    Science.gov (United States)

    Milh, Mathieu; Villeneuve, Nathalie; Chouchane, Mondher; Kaminska, Anna; Laroche, Cécile; Barthez, Marie Anne; Gitiaux, Cyril; Bartoli, Céline; Borges-Correia, Ana; Cacciagli, Pierre; Mignon-Ravix, Cécile; Cuberos, Hélène; Chabrol, Brigitte; Villard, Laurent

    2011-10-01

    STXBP1 (MUNC18-1) mutations have been associated with various types of epilepsies, mostly beginning early in life. To refine the phenotype associated with STXBP1 aberrations in early onset epileptic syndromes, we studied this gene in a cohort of patients with early onset epileptic encephalopathy. STXBP1 was screened in a multicenter cohort of 52 patients with early onset epilepsy (first seizure observed before the age of 3 months), no cortical malformation on brain magnetic resonance imaging (MRI), and negative metabolic screening. Three groups of patients could be distinguished in this cohort: (1) Ohtahara syndromes (n = 38); (2) early myoclonic encephalopathies (n = 7); and (3) early onset epileptic encephalopathies that did not match any familiar syndrome (n = 7). None of the patients displayed any cortical malformation on brain MRI and all were screened through multiple video-electroencephalography (EEG) recordings for a time period spanning from birth to their sixth postnatal month. Subsequently, patients had standard EEG or video-EEG recordings. We found five novel STXBP1 mutations in patients for whom video-EEG recordings could be sampled from the beginning of the disease. All patients with a mutation displayed Ohtahara syndrome, since most early seizures could be classified as epileptic spasms and since the silent EEG periods were on average shorter than bursts. However, each patient in addition displayed a particular clinical and EEG feature: In two patients, early seizures were clonic, with very early EEG studies exhibiting relatively low amplitude bursts of activity before progressing into a typical suppression-burst pattern, whereas the three other patients displayed epileptic spasms associated with typical suppression-burst patterns starting from the early recordings. Epilepsy dramatically improved after 6 months and finally disappeared before the end of the first year of life for four patients; the remaining one patient had few seizures until 18

  5. Early onset of treatment effects with oral risperidone

    Directory of Open Access Journals (Sweden)

    Naber Dieter

    2007-01-01

    Full Text Available Abstract Background The dogma of a delayed onset of antipsychotic treatment effects has been maintained over the past decades. However, recent studies have challenged this concept. We therefore performed an analysis of the onset of antipsychotic treatment effects in a sample of acutely decompensated patients with schizophrenia. Methods In this observational study, 48 inpatients with acutely decompensated schizophrenia were offered antipsychotic treatment with oral risperidone. PANSS-ratings were obtained on day 0, day 1, day 3, day 7 and day 14. Results Significant effects of treatment were already present on day 1 and continued throughout the study. The PANSS positive subscore and the PANSS total score improved significantly more than the PANSS negative subscore. Conclusion Our results are consistent with the growing number of studies suggesting an early onset of antipsychotic treatment effects. However, non-pharmacological effects of treatment also need to be taken into consideration.

  6. Seven mutations in the human insulin gene linked to permanent neonatal/infancy-onset diabetes mellitus

    DEFF Research Database (Denmark)

    Colombo, Carlo; Porzio, Ottavia; Liu, Ming;

    2008-01-01

    Permanent neonatal diabetes mellitus (PNDM) is a rare disorder usually presenting within 6 months of birth. Although several genes have been linked to this disorder, in almost half the cases documented in Italy, the genetic cause remains unknown. Because the Akita mouse bearing a mutation...... in the Ins2 gene exhibits PNDM associated with pancreatic beta cell apoptosis, we sequenced the human insulin gene in PNDM subjects with unidentified mutations. We discovered 7 heterozygous mutations in 10 unrelated probands. In 8 of these patients, insulin secretion was detectable at diabetes onset...... of endoplasmic reticulum stress, and with increased apoptosis. Similarly transfected INS-1E insulinoma cells had diminished viability compared with those expressing WT proinsulin. In conclusion, we find that mutations in the insulin gene that promote proinsulin misfolding may cause PNDM....

  7. Effect of antibiotic use on antimicrobial antibiotic resistance and late-onset neonatal infections over 25 years in an Australian tertiary neonatal unit.

    Science.gov (United States)

    Carr, David; Barnes, Elizabeth Helen; Gordon, Adrienne; Isaacs, David

    2017-05-01

    Antibiotic resistance is a worldwide problem. We describe 25 years of responsible antibiotic use in a tertiary neonatal unit. Data on neonatal infections and antibiotic use were collected prospectively from 1990 to 2014 at a single tertiary Sydney neonatal intensive care unit attached to a maternity unit. There are approximately 5500 deliveries and 900 nursery admissions per year. The mean annual rate of late-onset sepsis was 1.64 episodes per 100 admissions. The mean number of late-onset sepsis episodes per admission to the neonatal unit decreased by 4.0% per year (95% CI 2.6% to 5.4%; pantibiotics were stopped after 48-72 hours. Antibiotic use decreased with time. The proportion of colonising methicillin-resistant Staphylococcus aureus isolates decreased by 7.4% per year (95% CI 0.2% to 14.1%; p=0.043). The proportion of colonising Gram-negative bacilli isolates resistant to either third-generation cephalosporins or gentamicin increased by 2.9% per year (95% CI 1.0% to 4.9%; p=0.0035). Most were cephalosporin-resistant; gentamicin resistance was rare. An average of one baby per year died from late-onset sepsis, the rate not varying significantly over time. The mortality from episodes of late-onset sepsis was 25 of 332 (7.5%). Stopping antibiotics after 2-3 days if neonatal systemic cultures are negative is safe. However, it does not prevent the emergence of cephalosporin-resistant Gram-negative organisms. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.

  8. Risk Factors for Late-onset Hyponatremia and Its Influence on Neonatal Outcomes in Preterm Infants

    Science.gov (United States)

    Oh, Sohee; Choi, Chang Won; Kim, Ee-Kyung; Kim, Han-Suk; Kim, Beyong Il; Choi, Jung-Hwan

    2015-01-01

    Late-onset hyponatremia (LOH), hyponatremia occurring after two weeks of age with the achievement of full feeding, is the result of a negative sodium balance caused by inadequate salt intake or excessive salt loss due to immature renal or intestinal function in preterm infants. The aims of our study were to identify the risk factors for LOH and its influence on neonatal outcomes. This was a retrospective cohort analysis of 161 preterm infants born before 34 weeks of gestation between June 2009 and December 2010 at Seoul National University Hospital. LOH was defined as a sodium level ≤ 132 mEq/L or 133-135 mEq/L with oral sodium supplementation. LOH occurred in 49 (30.4%) of the studied infants. A lower gestational age, a shorter duration of parenteral nutrition, the presence of respiratory distress syndrome, the use of furosemide, and feeding with breast milk were significant risk factors for LOH. In terms of neonatal outcomes, the infants with LOH had longer hospital stays and higher risks of bronchopulmonary dysplasia and retinopathy of prematurity requiring surgery. LOH lasting at least 7 days significantly increased moderate to severe bronchopulmonary dysplasia, periventricular leukomalacia, and extra-uterine growth retardation. LOH is commonly observed in preterm infants; it may be a risk factor for bronchopulmonary dysplasia and retinopathy of prematurity or a marker of illness severity. PMID:25829814

  9. Inflammation profile of four early onset Crohn patients.

    Science.gov (United States)

    Marcuzzi, Annalisa; Girardelli, Martina; Bianco, Anna Monica; Martelossi, Stefano; Magnolato, Andrea; Tommasini, Alberto; Crovella, Sergio

    2012-02-10

    Crohn disease (CD) is a multifactorial disorder affecting mainly young adults. Sometimes, however, it can present in the first year of life (Early onset Crohn disease (EOCD)) showing an unpredictable course and can often be more severe than at older ages. Some cases have been associated to an underlying primary immunodeficiency such as IL10R deficiency. We studied the functional response to IL-10 and the genotype of IL-10 receptor in four patients with early onset crohn-like colitis. We found an IL10R variant, which may be associated with a decreased response to the cytokine in one patient. Further studies to determine its pathogenic effect should be performed. In addition IL-10 mediated inhibition of LPS-induced TNFα expression was measured in patient's monocytes.

  10. Familial early onset sarcoidosis with bone cysts and erosions

    Energy Technology Data Exchange (ETDEWEB)

    Blank, Norbert; Max, Regina; Lorenz, Hanns-Martin [University of Heidelberg, Department of Internal Medicine V, Division of Rheumatology, Heidelberg (Germany); Autschbach, Frank [University of Heidelberg, Department of Pathology, Heidelberg (Germany); Libicher, Martin [University of Cologne, Department of Radiology, Cologne (Germany)

    2007-09-15

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

  11. Genetic Determinism of Primary Early-Onset Osteoarthritis.

    Science.gov (United States)

    Aury-Landas, Juliette; Marcelli, Christian; Leclercq, Sylvain; Boumédiene, Karim; Baugé, Catherine

    2016-01-01

    Osteoarthritis (OA) is the most common joint disease worldwide. A minority of cases correspond to familial presentation characterized by early-onset forms which are genetically heterogeneous. This review brings a new point of view on the molecular basis of OA by focusing on gene mutations causing early-onset OA (EO-OA). Recently, thanks to whole-exome sequencing, a gain-of-function mutation in the TNFRSF11B gene was identified in two distant family members with EO-OA, opening new therapeutic perspectives for OA. Indeed, unraveling the molecular basis of rare Mendelian OA forms will improve our understanding of molecular processes involved in OA pathogenesis and will contribute to better patient diagnosis, management, and therapy.

  12. Interleukin-1 receptor antagonist in neonates, children and adults, and in patients with pauci- and polyarticular onset juvenile chronic arthritis

    DEFF Research Database (Denmark)

    Müller, K; Zak, M; Nielsen, S;

    2011-01-01

    patients with juvenile chronic arthritis (JCA) of the pauci- or polyarticular onset type. RESULTS: IL-1ra serum levels were found to differ significantly between the three age groups, being higher in neonates (569 pg/ml) than in children (70 pg/ml) and adults (177 pg/ml). IL-1ra production in E. coli...

  13. Onset of small intestinal atrophy is associated with reduced intestinal blood flow in TPN-fed neonatal piglets

    DEFF Research Database (Denmark)

    Niinikoski, Harri; Stoll, Barbara; Guan, Xinfu

    2004-01-01

    Our aim was to determine the speed of onset of total parenteral nutrition (TPN)-induced mucosal atrophy, and whether this is associated with changes in intestinal blood flow and tissue metabolism in neonatal piglets. Piglets were implanted with jugular venous and duodenal catheters and either...... 24 h of TPN, and protein mass was lower (P parenteral nutrition induced a rapid (

  14. Stiff-person syndrome with early onset in infancy

    Directory of Open Access Journals (Sweden)

    S. A. Malmberg

    2015-01-01

    Full Text Available The case of stiff-person syndrome with benign course in 16-years old patient is presented. The initial clinical signs of the disease were observed in infancy with retarded development of motor functions and skeleton muscle lumps. The diagnosis was made using generally accepted clinical and electromyographical criteria. Aspects of differential diagnosis, pathogenesis and clinical course polymorphism in early-onset cases of the disease are discussed.

  15. Walking strategies in subjects with congenital or early onset strabismus

    OpenAIRE

    Irene eAprile; Maurizio eFerrarin; Luca ePadua; Enrica eDi Sipio; Chiara eSimbolotti; Sergio ePetroni; Costanza eTredici; Anna eDickmann

    2014-01-01

    Introduction: In congenital strabismus, sensory adaptations occur hampering the correct development of normal binocular vision. The aim of this study is to investigate if patients with congenital or early onset exotropic or esotropic strabismus adopt different walking strategies with respect to healthy subjects. Our hypothesis is that the abnormal binocular cooperation, occurring in patients with exotropic or esotropic strabismus, could influence neurosensorial adaptation of the gait pattern....

  16. Role of Early Onset Neutropenia in Development of Candidemia in Premature Infants.

    Science.gov (United States)

    Ramy, Nermin; Hashim, Mohamed; Abou Hussein, Heba; Sawires, Happy; Gaafar, Maha; El Maghraby, Ayat

    2017-04-24

    The aim of the study was to assess the effect of early-onset neutropenia (EON) on the development of candidemia in premature infants and evaluate other risk factors. This prospective study was carried out in a neonatal intensive care unit of Cairo University Hospital. Fifty neutropenic premature infants were matched to 50 non-neutropenics. Subjects were then regrouped into candidemics and non-candidemics to study other risk factors such as central venous catheters, mechanical ventilation, parenteral nutrition, drugs as corticosteroids and others. Candidemia was assessed by Bactec and then seminested polymerase chain reaction for culture negatives. Candidemia developed in 28 neutropenic preterms and in 8 non-neutropenics (odds ratio  = 6.68, 95% confidence interval = 2.61-17.1, p  candidemia in multivariate regression analysis included EON, mechanical ventilation and steroid therapy. EON is an independent risk factor for candidemia in premature infants.

  17. Early neonatal morbidity and mortality in growth-discordant twins.

    Science.gov (United States)

    Alam Machado, Rita De Cássia; Brizot, Maria De Lourdes; Liao, Adolfo Wenjaw; Krebs, Vera Lucia Jornada; Zugaib, Marcelo

    2009-01-01

    To evaluate early neonatal morbidity and mortality in twin pregnancies with growth discordance. Retrospective study. Tertiary teaching hospital, Sao Paulo, Brazil. A total of 151 twin pregnancies managed and delivered at the Multiple Pregnancy Unit at Sao Paulo University Hospital between 1998 and 2004. METHODS; Comparison between twin pregnancies with weight discordance > or =20% and pregnancies concordant for fetal weight. Cases with fetal death, abnormalities, twin-to-twin transfusion and delivery before 26 weeks or in another hospital were excluded. Early neonatal morbidity (Apgar at 5 minutes pregnancies presented discordance > or =20% and 111 (73.5%) were concordant. In the discordant group, 75% of pregnancies had at least one growth restricted fetus (pregnancies, monochorionic cases (22.5%) presented with lower gestational age (34.3 vs. 36.2 weeks), lower birthweight (2,067 vs. 2,334 g) and a longer period of hospital stay (5.5 vs. 3.0) compared to dichorionic concordant twins. No differences between monochorionic and dichorionic subgroups were observed in discordant twins. Pregnancies in which at least one baby was born with a birthweight below the 10th centile showed that discordant pregnancies had a lower gestational age at delivery (35.2 vs. 36.8 weeks) and a longer period of hospital stay (9 vs. 4 weeks) compared to concordant cases. Neonatal mortality was similar in discordant (3.7%) and concordant (4.5%) twins. Early perinatal morbidity is increased in twin pregnancies with birthweight discordance > or =20% only when associated with fetal growth restriction and low birthweight.

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

    DEFF Research Database (Denmark)

    Pagsberg, A K; Baaré, William Frans Christian; Raabjerg Christensen, A M

    2007-01-01

    , 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...... that schizophrenia patients (n = 15) had significantly larger lateral ventricles as compared to controls. Duration and dose of antipsychotics correlated negatively with global gray matter volume in minimally medicated patients (n = 18). CONCLUSION: Findings of white matter changes and enlarged lateral ventricles...... 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....

  19. [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

  20. Genetics Home Reference: inclusion body myopathy with early-onset Paget disease and frontotemporal dementia

    Science.gov (United States)

    ... myopathy with early-onset Paget disease and frontotemporal dementia Enable Javascript to view the expand/collapse boxes. ... myopathy with early-onset Paget disease and frontotemporal dementia ( IBMPFD ) is a condition that can affect the ...

  1. 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.

  2. Early Onset of Selective Serotonin Reuptake Inhibitor Antidepressant Action

    Science.gov (United States)

    Taylor, Matthew J.; Freemantle, Nick; Geddes, John R.; Bhagwagar, Zubin

    2008-01-01

    Context: Selective serotonin reuptake inhibitors (SSRIs) are often described as having a delayed onset of effect in the treatment of depression. However, some trials have reported clinical improvement as early as the first week of treatment. Objective: To test the alternative hypotheses of delayed vs early onset of antidepressant action with SSRIs in patients with unipolar depression. Data Sources: Trials identified by searching CENTRAL, The Cochrane Collaboration database of controlled trials (2005), and the reference lists of identified trials and other systematic reviews. Study Selection: Randomized controlled trials of SSRIs vs placebo for the treatment of unipolar depression in adults that reported outcomes for at least 2 time points in the first 4 weeks of treatment (50 trials from >500 citations identified). Trials were excluded if limited to participants older than 65 years or specific comorbidities. Data Extraction: Data were extracted on trial design, participant characteristics, and outcomes by a single reviewer. Data Synthesis: Pooled estimates of treatment effect on depressive symptom rating scales were calculated for weeks 1 through 6 of treatment. In the primary analysis, the pattern of response seen was tested against alternative models of onset of response. The primary analysis incorporated data from 28 randomized controlled trials (n=5872). A model of early treatment response best fit the experimental data. Treatment with SSRIs rather than placebo was associated with clinical improvement by the end of the first week of use. A secondary analysis indicated an increased chance of achieving a 50% reduction in Hamilton Depression Rating Scale scores by 1 week (relative risk, 1.64; 95% confidence interval, 1.2-2.25) with SSRI treatment compared with placebo. Conclusions: Treatment with SSRIs is associated with symptomatic improvement in depression by the end of the first week of use, and the improvement continues at a decreasing rate for at least 6

  3. 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

  4. Early-onset sarcoidosis mimicking refractory cutaneous histiocytosis.

    Science.gov (United States)

    Ohga, Shouichi; Ichino, Kiyomi; Urabe, Kazunori; Ishimura, Masataka; Takada, Hidetoshi; Nishikomori, Ryuta; Furue, Masutaka; Hara, Toshiro

    2008-03-01

    A 10-year-old female was diagnosed as having early-onset sarcoidosis (EOS) after a prolonged skin disease. A granuloma emerged on the face at age 2 and massive lesions extended to the rest of the body. Repeated biopsies indicated histiocytic proliferation. At age 7, fever, disseminated macular eruptions, and multinucleated giant cells in the bone marrow prompted vinblastine and prednisolone therapy. Five months after stopping therapy, hypercalcemic crisis occurred along with fever, cytopenias, and interferon-gamma-nemia indicating a macrophage activation syndrome. A biopsy of nodules confirmed the diagnosis of sarcoidosis. The atypical EOS should be differentiated from histiocytosis.

  5. 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.

  6. Susceptibility genetic variants associated with early-onset colorectal cancer.

    Science.gov (United States)

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

    2012-03-01

    Colorectal cancer (CRC) is the second most common cancer in Western countries. Hereditary forms only correspond to 5% of CRC burden. Recently, genome-wide association studies have identified common low-penetrant CRC genetic susceptibility loci. Early-onset CRC (CRC65 years old) (n = 1264). CRC susceptibility variants at 8q23.3 (rs16892766), 8q24.21 (rs6983267), 10p14 (rs10795668), 11q23.1 (rs3802842), 15q13.3 (rs4779584), 18q21 (rs4939827), 14q22.2 (rs4444235), 16q22.1 (rs9929218), 19q13.1 (rs10411210) and 20p12.3 (rs961253) were genotyped in all DNA samples. A genotype-phenotype correlation with clinical and pathological characteristics in both groups was performed. Risk allele carriers for rs3802842 [Odds ratio (OR) = 1.5, 95% confidence interval (CI) 1.1-2.05, P = 0.0096, dominant model) and rs4779584 (OR = 1.39, 95% CI 1.02-1.9, P = 0.0396, dominant model) were more frequent in the CRC<50 group, whereas homozygotes for rs10795668 risk allele were also more frequent in the early-onset CRC (P = 0.02, codominant model). Regarding early-onset cases, 14q22 (rs4444235), 11q23 (rs3802842) and 20p12 (rs961253) variants were more associated with family history of CRC or tumors of the Lynch syndrome spectrum excluding CRC. In our entire cohort, sum of risk alleles was significantly higher in patients with a CRC family history (OR = 1.40, 95% CI 1.06-1.85, P = 0.01). In conclusion, variants at 10p14 (rs10795668), 11q23.1 (rs3802842) and 15q13.3 (rs4779584) may have a predominant role in predisposition to early-onset CRC. Association of CRC susceptibility variants with some patient's familiar and personal features could be relevant for screening and surveillance strategies in this high-risk group and it should be explored in further studies.

  7. 2014 CODEPEH recommendations: Early detection of late onset deafness, audiological diagnosis, hearing aid fitting and early intervention.

    Science.gov (United States)

    Núñez-Batalla, Faustino; Jáudenes-Casaubón, Carmen; Sequí-Canet, Jose Miguel; Vivanco-Allende, Ana; Zubicaray-Ugarteche, Jose

    2016-01-01

    The latest scientific literature considers early diagnosis of deafness as the key element to define the educational and inclusive prognosis of the deaf child, because it allows taking advantage of the critical period of development (0-4 years). Highly significant differences exist between deaf people who have been stimulated early and those who have received late or improper intervention. Early identification of late-onset disorders requires special attention and knowledge on the part of every childcare professional. Programs and additional actions beyond neonatal screening should be designed and planed to ensure that every child with a significant hearing loss is detected early. For this purpose, the CODEPEH would like to highlight the need for continuous monitoring of children's auditory health. Consequently, CODEPEH has drafted the recommendations included in the present document. Copyright © 2015 Elsevier España, S.L.U. and Sociedad Española de Otorrinolaringología y Patología Cérvico-Facial. All rights reserved.

  8. Late-onset sepsis in very low birth weight infants: a Brazilian Neonatal Research Network Study.

    Science.gov (United States)

    de Souza Rugolo, Ligia Maria Suppo; Bentlin, Maria Regina; Mussi-Pinhata, Marisa; de Almeida, Maria Fernanda Branco; Lopes, José Maria de Andrade; Marba, Sergio Tadeu Martins; Fiori, Humberto Holmer; Procianoy, Renato Soibelmann; Leone, Clea Rodrigues

    2014-12-01

    Late-onset sepsis (LOS) is an important cause of morbidity and mortality in very low birth weight (VLBW) infants. To determine the incidence, risk factors and etiology of LOS. LOS was investigated in a multicenter prospective cohort of infants at eight public university neonatal intensive care units (NICUs). Inclusion criteria included inborn, 23-33 weeks of gestational age, 400-1499 g birth weight, who survived >3 days. Of 1507 infants, 357 (24%) had proven LOS and 345 (23%) had clinical LOS. Infants with LOS were more likely to die. The majority of infections (76%) were caused by Gram-positive organisms. Independent risk factors for proven LOS were use of central venous catheter and mechanical ventilation, age at the first feeding and number of days on parenteral nutrition and on mechanical ventilation. LOS incidence and mortality are high in Brazilian VLBW infants. Most risk factors are associated with routine practices at NICU. © The Author [2014]. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  9. Seven mutations in the human insulin gene linked to permanent neonatal/infancy-onset diabetes mellitus.

    Science.gov (United States)

    Colombo, Carlo; Porzio, Ottavia; Liu, Ming; Massa, Ornella; Vasta, Mario; Salardi, Silvana; Beccaria, Luciano; Monciotti, Carla; Toni, Sonia; Pedersen, Oluf; Hansen, Torben; Federici, Luca; Pesavento, Roberta; Cadario, Francesco; Federici, Giorgio; Ghirri, Paolo; Arvan, Peter; Iafusco, Dario; Barbetti, Fabrizio

    2008-06-01

    Permanent neonatal diabetes mellitus (PNDM) is a rare disorder usually presenting within 6 months of birth. Although several genes have been linked to this disorder, in almost half the cases documented in Italy, the genetic cause remains unknown. Because the Akita mouse bearing a mutation in the Ins2 gene exhibits PNDM associated with pancreatic beta cell apoptosis, we sequenced the human insulin gene in PNDM subjects with unidentified mutations. We discovered 7 heterozygous mutations in 10 unrelated probands. In 8 of these patients, insulin secretion was detectable at diabetes onset, but rapidly declined over time. When these mutant proinsulins were expressed in HEK293 cells, we observed defects in insulin protein folding and secretion. In these experiments, expression of the mutant proinsulins was also associated with increased Grp78 protein expression and XBP1 mRNA splicing, 2 markers of endoplasmic reticulum stress, and with increased apoptosis. Similarly transfected INS-1E insulinoma cells had diminished viability compared with those expressing WT proinsulin. In conclusion, we find that mutations in the insulin gene that promote proinsulin misfolding may cause PNDM.

  10. Premature adrenarche: novel lessons from early onset androgen excess.

    Science.gov (United States)

    Idkowiak, Jan; Lavery, Gareth G; Dhir, Vivek; Barrett, Timothy G; Stewart, Paul M; Krone, Nils; Arlt, Wiebke

    2011-08-01

    Adrenarche reflects the maturation of the adrenal zona reticularis resulting in increased secretion of the adrenal androgen precursor DHEA and its sulphate ester DHEAS. Premature adrenarche (PA) is defined by increased levels of DHEA and DHEAS before the age of 8 years in girls and 9 years in boys and the concurrent presence of signs of androgen action including adult-type body odour, oily skin and hair and pubic hair growth. PA is distinct from precocious puberty, which manifests with the development of secondary sexual characteristics including testicular growth and breast development. Idiopathic PA (IPA) has long been considered an extreme of normal variation, but emerging evidence links IPA to an increased risk of developing the metabolic syndrome (MS) and thus ultimately cardiovascular morbidity. Areas of controversy include the question whether IPA in girls is associated with a higher rate of progression to the polycystic ovary syndrome (PCOS) and whether low birth weight increases the risk of developing IPA. The recent discoveries of two novel monogenic causes of early onset androgen excess, apparent cortisone reductase deficiency and apparent DHEA sulphotransferase deficiency, support the notion that PA may represent a forerunner condition for PCOS. Future research including carefully designed longitudinal studies is required to address the apparent link between early onset androgen excess and the development of insulin resistance and the MS.

  11. Early vitamin K deficiency bleeding in a neonate associated with maternal Crohn's disease.

    Science.gov (United States)

    Ohishi, A; Nakashima, S; Ogata, T; Iijima, S

    2014-08-01

    We report herein a case of early vitamin K deficiency bleeding (VKDB) in a neonate associated with maternal Crohn's disease. A female neonate was born at 37 weeks' gestation and weighed 2778 g. She developed broad purpura on her back on day 1. Laboratory data showed anemia, prolonged coagulation time and elevated protein induced by vitamin K absence or antagonist-II. Early VKDB has not been reported in a neonate born from mother with active Crohn's disease. It is essential to give vitamin K selectively as soon as possible after birth to prevent early VKDB in neonates.

  12. Stratification of Risk of Early-Onset Sepsis in Newborns ≥34 Weeks’ Gestation

    Science.gov (United States)

    Puopolo, Karen M.; Wi, Soora; Turk, Benjamin J.; Kuzniewicz, Michael W.; Walsh, Eileen M.; Newman, Thomas B.; Zupancic, John; Lieberman, Ellice; Draper, David

    2014-01-01

    OBJECTIVE: To define a quantitative stratification algorithm for the risk of early-onset sepsis (EOS) in newborns ≥34 weeks’ gestation. METHODS: We conducted a retrospective nested case-control study that used split validation. Data collected on each infant included sepsis risk at birth based on objective maternal factors, demographics, specific clinical milestones, and vital signs during the first 24 hours after birth. Using a combination of recursive partitioning and logistic regression, we developed a risk classification scheme for EOS on the derivation dataset. This scheme was then applied to the validation dataset. RESULTS: Using a base population of 608 014 live births ≥34 weeks’ gestation at 14 hospitals between 1993 and 2007, we identified all 350 EOS cases <72 hours of age and frequency matched them by hospital and year of birth to 1063 controls. Using maternal and neonatal data, we defined a risk stratification scheme that divided the neonatal population into 3 groups: treat empirically (4.1% of all live births, 60.8% of all EOS cases, sepsis incidence of 8.4/1000 live births), observe and evaluate (11.1% of births, 23.4% of cases, 1.2/1000), and continued observation (84.8% of births, 15.7% of cases, incidence 0.11/1000). CONCLUSIONS: It is possible to combine objective maternal data with evolving objective neonatal clinical findings to define more efficient strategies for the evaluation and treatment of EOS in term and late preterm infants. Judicious application of our scheme could result in decreased antibiotic treatment in 80 000 to 240 000 US newborns each year. PMID:24366992

  13. Successful off-label use of the Cepheid Xpert GBS in a late-onset neonatal meningitis by Streptococcus agalactiae

    OpenAIRE

    Savini, Vincenzo; Marrollo, Roberta; Coclite, Eleonora; Fusilli, Paola; D’Incecco, Carmine; Fazii, Paolo

    2014-01-01

    We report the case of a late-onset neonatal meningitis by Streptococcus agalactiae (group B Streptococcus - GBS) that was diagnosed with a latex agglutination assay (on cerebrospinal fluid, CSF), as well as by using, for the first time, Xpert GBS (Cepheid, US) on CSF. Due to empirical antibiotics given before sampling, both CSF and blood culture were negative, so the abovementioned diagnostics was crucial. Moreover, the Xpert GBS assay, performed according to an off-label, modified protocol (...

  14. Serum ischemia-modified albumin levels at diagnosis and during treatment of late-onset neonatal sepsis.

    Science.gov (United States)

    Yerlikaya, F Hümeyra; Kurban, Sevil; Mehmetoglu, Idris; Annagur, Ali; Altunhan, Huseyin; Erbay, Ekrem; Ors, Rahmi

    2014-11-01

    Sepsis is one of the most common infectious conditions in the neonatal period, and continues as a major source of morbidity and mortality. The aim of this study is to determine serum ischemia-modified albumin (IMA) levels in late-onset neonatal sepsis at the time of diagnosis and after therapy, and to show the meaningful on the follow-up. Also, it is aimed to compare serum IMA levels with serum C-reactive protein (CRP), procalcitonin (PCT) levels and white blood cell count. The study was performed on 33 premature babies with sepsis and 21 healthy premature controls at 7-28 days of age. In the sepsis group, biochemical parameters and blood culture samples were obtained from the blood at the onset and on the fifth day of treatment for each patient. Serum IMA, CRP, PCT and white blood cell count were significantly higher in the sepsis group before treatment when compared with the control group. In addition, the levels of IMA were positively correlated with white blood cell count, CRP and PCT in the sepsis group before treatment. In conclusion, serum IMA levels may be useful in late-onset neonatal sepsis at the time of diagnosis and after therapy. As far as we know this is the first report about the assesment of illness diagnosis and after therapy using serum IMA levels, and further studies are needed to confirm our results in larger groups of patients.

  15. Menkes disease – An important cause of early onset refractory seizures

    Directory of Open Access Journals (Sweden)

    Puneet Jain

    2014-01-01

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

  16. Neutrophil CD64 combined with PCT, CRP and WBC improves the sensitivity for the early diagnosis of neonatal sepsis.

    Science.gov (United States)

    Yang, Ai-Ping; Liu, Jun; Yue, Lei-He; Wang, Hong-Qi; Yang, Wen-Juan; Yang, Guo-Hui

    2016-02-01

    The aim of this study was to determine whether neutrophil CD64 (nCD64) combined with procalcitonin (PCT), C-reactive protein (CRP) and white blood cell count (WBC) can increase the sensitivity and accuracy of neonatal sepsis diagnosis. The serum levels of nCD64, CRP, PCT and WBC were detected in 60 patients with neonatal sepsis and 60 patients with non-sepsis. Sensitivity, specificity, positive and negative predictive values, receiver operating characteristic (ROC) area under the curve (AUC), and logistic regression analysis were performed to evaluate the diagnostic value of these markers on neonatal sepsis. Serum levels of nCD64, PCT, CRP and WBC were higher in the sepsis group than non-sepsis group (pneonatal sepsis were increased to 95.5%. Except for WBC, the birth weight and gestational age had no effects on the diagnostic value of these serum biomarkers. nCD64 and PCT are better diagnostic biomarkers for early diagnosis of neonatal sepsis as compared to CRP. With the help of optimal cut-off value based on ROC curve and logistic regression analysis, the combination of these biomarkers could improve the sensitivity for the diagnosis of suspected late-onset neonatal sepsis based on common serum biomarkers.

  17. Theory of Mind differences in older patients with early-onset and late-onset paranoid schizophrenia.

    Science.gov (United States)

    Smeets-Janssen, M M J; Meesters, P D; Comijs, H C; Eikelenboom, P; Smit, J H; de Haan, L; Beekman, A T F; Stek, M L

    2013-11-01

    Theory of Mind (ToM) is considered an essential element of social cognition. In younger schizophrenia patients, ToM impairments have extensively been demonstrated. It is not clear whether similar impairments can be found in older schizophrenia patients and if these impairments differ between older patients with early-onset and late-onset schizophrenia. Theory of Mind abilities were assessed using the Hinting Task in 15 older patients (age 60 years and older) with early-onset paranoid schizophrenia, 15 older patients with late-onset paranoid schizophrenia and 30 healthy controls. ANCOVA was performed to test differences between groups. Analyses were adjusted for level of education. Effect sizes, partial eta squared (ε(2) ), were computed as an indication of the clinical relevance of the findings. Patients with early-onset schizophrenia scored significantly lower on the Hinting Task (mean 16.1; SD 4.3) compared with patients with late-onset schizophrenia (mean 18.6; SD 1.5) and with healthy controls (mean 19.0; SD 1.4). The effect size of this difference was large (ε(2)  = 0.2). These results suggest that ToM functioning may be a protective factor modulating the age at onset of psychosis. Further studies into the relationship between social cognition and onset age of psychosis are warranted. Copyright © 2013 John Wiley & Sons, Ltd.

  18. Early onset of fesoterodine efficacy in subjects with overactive bladder.

    Science.gov (United States)

    Goldman, Howard B; Morrow, Jon D; Gong, Jason; Tseng, Li-Jung; Schneider, Tim

    2011-02-01

    To assess the onset of efficacy of fesoterodine 4 mg once daily on overactive bladder (OAB) symptoms after 1 week of treatment. This was a prespecified analysis of data collected during the first week of a 12-week, open-label, single-arm, flexible-dose study of fesoterodine. Eligible subjects were adult men and women (aged ≥ 18 years) who reported urinary frequency (eight or more micturitions per 24 h) and urgency (three or more episodes per 24 h) in 5-day bladder diaries at baseline, and dissatisfaction with previous tolterodine or tolterodine extended-release treatment received within 2 years of screening. All subjects received fesoterodine 4 mg once daily during the first 4 weeks of treatment (with an optional dose increase to fesoterodine 8 mg after week 4). Early onset of efficacy of fesoterodine 4 mg was assessed based on changes from baseline to week 1 in variables recorded in 5-day bladder diaries, including total micturitions, urgency episodes, urgency urinary incontinence (UUI) episodes and nocturnal micturitions. Urgency and severe urgency episodes were defined as those rated ≥ 3 and ≥ 4, respectively, on the five-point Urinary Sensation Scale (USS) (1 = no urgency, 5 = UUI); frequency-urgency sum (a combined measure of micturition frequency and urgency) was defined as the sum of all USS ratings. All bladder diary variables, including total and nocturnal micturitions, UUI episodes, urgency episodes, severe urgency episodes and frequency-urgency sum per 24 h, were significantly improved (all P fesoterodine 4 mg compared to baseline. The diary-dry rate at week 1 (i.e. subjects with at least one UUI episode at baseline who subsequently reported no UUI episodes on week 1 diary) was 38%. In this open-label study of subjects with OAB who had been previously treated and dissatisfied with tolterodine, fesoterodine 4 mg showed a rapid onset of efficacy at 1 week. © 2010 THE AUTHORS. JOURNAL COMPILATION © 2010 BJU INTERNATIONAL.

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

    Science.gov (United States)

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

    2008-01-01

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

  20. Early Life Microbiota, Neonatal Immune Maturation and Hematopoiesis

    DEFF Research Database (Denmark)

    Kristensen, Matilde Bylov

    and the commensals in the gut. Hematopoietic stem cells from the fetal liver seed the fetal spleen and bone marrow in perinatal phase. Granulocytosis in neonate mice and man just after birth is a natural event of early life hematopoiesis and likely contributes to elevated counts of neutrophil-like cells...... bowl disease, later in life. The intestinal epithelium makes up a physical and biochemical barrier between the bacteria in the gut lumen and the immune cells in the submocusal tissue. This monolayer of intestinal epithelial cells (IEC) makes up an extremely large surface and is highly important...... in the peripheral blood of newborns. Granular myeloid derived suppressor cells (MDSC) have recently been described in human cord blood. MDSC are potential immunosuppressive cells often described in cancer, inflammation and during sepsis. They evolve from immature myeloid cells during hematopoiesis. Several recent...

  1. Early-onset Pseudoexfoliation Syndrome following Multiple Intraocular Procedures

    Directory of Open Access Journals (Sweden)

    Heydar Amini

    2012-01-01

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

  2. Fatores de risco para mortalidade neonatal precoce Risk factors for early neonatal mortality

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    Daniela Schoeps

    2007-12-01

    assess risk factors for early neonatal mortality. METHODS: A population-based case-control study was carried out with 146 early neonatal deaths and a sample of 313 controls obtained among survivals of the neonate period in the south region of the city of São Paulo, in the period of 8/1/2000 to 1/31/2001. Information was obtained through home interviews and hospital charts. Hierarchical assessment was performed in five groups with the following characteristics 1 socioeconomic conditions of mothers and families, 2 maternal psychosocial conditions, 3 obstetrical history and biological characteristics of mothers, 4 delivery conditions, 5 conditions of newborns RESULTS: Risk factors for early neonate mortality were: Group 1: poor education of household head (OR=1.6; 95% CI: 1.1;2.6, household located in a slum area (OR=2.0; 95% CI: 1.2;3.5 with up to one room (OR=2.2; 95% CI: 1.1;4.2; Group 2: mothers in recent union (OR=2.0; 95% CI: 1.0;4.2, unmarried mothers (OR=1.8; 95% CI: 1.1;3.0, and presence of domestic violence (OR=2.7; 95% CI: 1;6.5; Group 3: presence of complications in pregnancy (OR=8.2; 95% CI: 5.0;13.5, previous low birth weight (OR=2.4; 95% CI: 1.2;4.5, absence of pre-natal care (OR=16.1; 95% CI: 4.7;55.4, and inadequate pre-natal care (block 3 (OR=2.1; 95% CI: 2.0;3.5; Group 4: presence of clinical problems during delivery (OR=2.9; 95% CI: 1.4;5.1, mothers who went to hospital in ambulances (OR=3.8; 95% CI: 1.4;10.7; Group 5: low birth weight (OR=17.3; 95% CI: 8.4;35.6 and preterm live births (OR=8.8; 95% CI: 4.3;17.8. CONCLUSIONS: Additionally to proximal factors (low birth weight, preterm gestations, labor complications and unfavorable clinical conditions in gestation, the variables expressing social exclusion and presence of psychosocial factors were also identified. This context may affect the development of gestation and hinder the access of women to health services. Adequate prenatal care could minimize the effect of these variables.

  3. Predictors of survival in severe, early onset COPD.

    Science.gov (United States)

    Hersh, Craig P; DeMeo, Dawn L; Al-Ansari, Essam; Carey, Vincent J; Reilly, John J; Ginns, Leo C; Silverman, Edwin K

    2004-11-01

    Multiple risk factors for mortality in patients with COPD have been described, but most studies have involved older, primarily male subjects. The purpose of this study was to determine the mortality rate and predictors of survival in subjects with severe, early onset COPD. The cohort of 139 probands in the Boston Early-Onset COPD Study was recruited from lung transplant and general pulmonary clinics between September 1994 and July 2002. Subjects were < 53 years old, had an FEV(1) of < 40% of predicted, did not have severe alpha(1)-antitrypsin deficiency, and had not undergone lung transplantation. The initial evaluation included a standardized respiratory questionnaire, spirometry, and a blood sample. A follow-up telephone interview was conducted between May and December 2002. Subjects were young (mean age at enrollment, 47.9 years) and had severe airflow obstruction (mean baseline FEV(1), 19.4% predicted). A total of 72.7% of the subjects were women (p < 0.0001 [comparison to equal gender distribution]). The median estimated survival time was 7.0 years from the time of study enrollment, determined by the Kaplan-Meier method. The majority of deaths were due to cardiorespiratory illness. In a multivariable Cox proportional hazards model, adjusting for age, gender, and baseline FEV(1), lifetime cigarette consumption (hazard ratio [HR], 1.20 [per 10 pack-years]; 95% confidence interval [CI], 1.02 to 1.40) and recent smoking status (HR, 2.50; 95% CI, 1.03 to 6.05) were both significant predictors of mortality. In this cohort, recent smoking status predicted increased mortality independent of the effects of lifetime smoking intensity. Smoking cessation may confer a survival benefit even among patients with very severe COPD.

  4. The effect of early and late umbilical cord clamping on neonatal hematocrit.

    Science.gov (United States)

    Jahazi, A; Kordi, M; Mirbehbahani, N B; Mazloom, S R

    2008-08-01

    To compare the effect of early and late cord clamping (LCC) on neonatal hematocrit at 2 and 18 h of life. In this double-blind randomized trial, 64 healthy full-term vaginally born neonates were randomly allocated to either early (30 s) or late (3 min) umbilical cord clamping. During the interval between delivery and cord clamping, the attendant held the neonate supine at the level of the introitus. Neonatal venous hematocrit was measured at 2 and 18 h of life. Neonatal hematocrit at 2 h of life (61+/-4.9 vs 61.6+/-4.5%) and 18 h of life (56.9+/-4.1 vs 56.2+/-3.9%) was not significantly different between the two groups. This was also true for neonatal polycythemia (20 vs 23.5%). In the LCC group, placental residual blood volume (PRBV) was 39.5% lower and estimated neonatal blood volume (ENBV) was 7.1% higher than that in the early cord clamping (ECC) group (Pcord clamping does not lead to a significant difference in the hematocrit level of the neonate or neonatal polycythemia, but is associated with a significant increase in ENBV and a significant decrease in PRBV. Further trials should examine the effect of delaying cord clamping for a longer period of time or changing the position that the neonate is held in to determine whether these variations result in more clinically significant results.

  5. Late-Onset Enterobacter cloacae Sepsis in Very-Low-Birth-Weight Neonates: Experience in a Medical Center

    Directory of Open Access Journals (Sweden)

    Hsiao-Neng Chen

    2009-02-01

    Conclusion: E. cloacae infection in VLBW neonates usually presents with non-specific symptoms and signs. Early recognition of sepsis and empirical combination of piperacillin (or piperacillin and tazobactam and gentamicin (or amikacin may be useful for treatment of sepsis caused by this highly virulent pathogen.

  6. Study on onset time and influencing factors of anemia in term neonates%足月新生儿贫血发生时间及影响因素的研究

    Institute of Scientific and Technical Information of China (English)

    丁晶; 刘捷; 曾超美

    2012-01-01

    目的:探讨足月新生儿贫血发生时间及其影响因素.方法:对收治的287例发生贫血的足月新生儿进行回顾性研究,分析足月新生儿贫血发生时间与性别、胎龄、出生体质量、溶血、失血等多种因素的相关性.结果:47%足月新生儿贫血发生在生后1周内,32%发生在生后第2周,13%发生在生后第3周,8%发生在生后第4周.早期贫血足月新生儿中溶血及宫内窘迫、生后窒息发生率较晚期贫血足月新生儿高,差异有统计学意义(P<0.01).早期贫血足月新生儿的出生体质量较晚期贫血足月新生儿大(P<0.05),初始出现贫血时平均红细胞体积(MCV)较晚期贫血足月新生儿高(P<0.05),但感染发生率却较晚期贫血足月新生儿低(P<0.01).结论:足月新生儿贫血多发生在生后3周内,且溶血及围产期缺氧与足月新生儿早期贫血密切相关,感染与足月新生儿晚期贫血密切相关.%Objective; To explore the onset time and influencing factors of anemia in term neonates. Methods; A total of 287 term neonates with anemia who were treated in the hospital were analyzed statistically, the correlation between the onset time of anemia in term neonates and gender, fetal age, birth weight, hemolysis, and blood loss was analyzed. Results: The incidences of neonatal anemia within one, two, three, and four weeks after birth was 47% , 32% , 13% , and 8% , respectively. The incidences of intrauterine distress and asphyxia after birth in term neonates with early anemia were statistically significantly higher than those in term neonates with late anemia ( P < 0. 01) ; the birth weight of term neonates with early anemia was statistically significantly higher than that of term neonates with late anemia (P < 0. 05) . The mean corpuscular volume ( MCV) of term neonates with early anemia was statistically significantly higher than that of term neonates with late anemia ( P < 0. 05 ) . The incidence of infection in

  7. 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.

  8. Early handling modulates outcome of neonatal dexamethasone exposure.

    Science.gov (United States)

    Claessens, Sanne E F; Daskalakis, Nikolaos P; Oitzl, Melly S; de Kloet, E Ronald

    2012-09-01

    Synthetic glucocorticoids such as dexamethasone (DEX) are used to prevent or treat respiratory disorders in prematurely born infants. Besides the short-term benefit on lung development, numerous human and animal studies have reported adverse neurodevelopmental side effects. In contrast, maternal care is known to exert a positive influence on neurodevelopmental outcome in rodents. The aim of the current study was therefore to investigate whether neonatal handling (days 1-21), known to induce maternal care, might serve as an intervention strategy modulating the adverse effects of DEX treatment (days 1-3). For this purpose we have measured the outcome of these early-life manipulations on development as well as adult endocrine and behavioral phenotype of male rats. Maternal care was observed during the first week of life and indeed enhanced in response to handling. Eye opening was accelerated and body weight reduced in DEX-treated animals. In adulthood, we report that handling ameliorated impaired spatial learning observed in DEX treated non-handled animals in the T-maze. Additionally, handling reduced susceptibility to the impact of DEX treatment in the water maze. Although DEX treatment and handling both resulted in enhanced negative feedback of the stress-induced corticosterone response and both reduced startle reactivity, the acquisition of fear was only reduced by handling, without effect of DEX. Interestingly, handling had a beneficial effect on pre-pulse inhibition, which was diminished after DEX treatment. In conclusion, these findings indicate that handling of the neonate enhances maternal care and attenuates specific DEX-induced alterations in the adult behavioral phenotype. Copyright © 2012 Elsevier Inc. All rights reserved.

  9. 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 ye

  10. Association of late-onset neonatal sepsis with late neurodevelopment in the first two years of life of preterm infants with very low birth weight

    Directory of Open Access Journals (Sweden)

    Claudia Regina Hentges

    2014-01-01

    Full Text Available OBJECTIVE: To establish the influence of late-onset sepsis on neurodevelopment of preterm infants with very low birth weight (VLBW, according to the etiologic agent METHOD: This was a cohort of newborns with birth weight < 1,500 g and gestational age less than 32 weeks, admitted to the institutional intensive care unit (ICU with up to 48 hours of life, and followed-up at the outpatient follow-up clinic for preterm infants with VLBW until 2 years of corrected age. Exclusion criteria: death within the first 72 hours of life, congenital malformations and genetic syndromes, children with congenital infection by the human immunodeficiency virus (HIV, congenital infection (STORCH, presence of early-onset spesis and cases with more than one pathogen growth in blood cultures. Septic and non-septic infants were compared regarding neonatal outcomes and mortality. Neurodevelopment was assessed using the Bayley Scale (BSDI-II at 18 to 24 months of corrected age. RESULTS: 411 preterm infants with VLBW were eligible; the mean gestational age was 29 ± 2.2 weeks and mean birth weight was 1,041 ± 281grams. Late-onset sepsis occurred in 94 preterm infants with VLBW (22.8%. VLBW infants with Gram-positive infection showed motor deficit when compared to the non-septic group, 68.8% vs. 29.3%, respectively (OR 6; 1.6-21.8, p = 0.006; the cognitive development was similar between the groups. The overall mortality rate from infection was 26.7%; considering the pathogens, the rates were 18.7% for coagulase-negative Staphylococcus, 21.8% for Gram-positive bacteria, and 50% for Gram-negative bacteria and fungi. CONCLUSION: Neonatal sepsis has a significant influence on late neurodevelopment at 2 years of corrected age in preterm infants with VLBW, and Gram-positive infections are associated with motor deficit.

  11. Late-onset systemic lupus erythematosus in Northwestern Spain: differences with early-onset systemic lupus erythematosus and literature review.

    Science.gov (United States)

    Alonso, M D; Martinez-Vazquez, F; de Teran, T Diaz; Miranda-Filloy, J A; Dierssen, T; Blanco, R; Gonzalez-Juanatey, C; Llorca, J; Gonzalez-Gay, M A

    2012-09-01

    To further investigate into the epidaemiology of systemic lupus erythematosus (SLE) in Southern Europe, we have assessed the incidence, clinical spectrum and survival of patients diagnosed with late-onset SLE (age ≥ 50 years) according to the 1982 American College of Rheumatology (ACR) classification criteria at the single hospital for a well-defined population of Lugo, Northwestern (NW) Spain. Between January 1987 and December 2006, 51 (39.3%) of the 150 patients diagnosed as having SLE fulfilled definitions for late-onset SLE. The predominance of women among late-onset SLE (4:1) was reduced when compared with that observed in early-onset SLE (7:1). However, the incidence of late-onset SLE was significantly higher in women (4.2 [95% confidence interval (CI): 3.1-5.6] per 100,000 population) than in men (1.3 [95% CI: 0.6-2.2] per 100,000 population) (p < 0.001). As observed in early-onset SLE, the most frequent clinical manifestation in patients with late-onset SLE was arthritis (71.2%). Renal disease was less common in late-onset SLE (13.5%) than in early-onset SLE (26.4%); p = 0.07). In contrast, secondary Sjögren syndrome was more commonly found in the older age-group (27.1% versus 12.1%; p = 0.03). A non-significantly increased incidence of serositis was also observed in late-onset SLE patients (33.9% versus 22.0%; p = 0.13). Hypocomplementaemia (72.9% versus 91.2%) and positive results for anti-DNA and anti-Sm (49.2% and 6.8% versus 68.1% and 23.1, respectively) were significantly less common in late-onset SLE patients than in early-onset SLE. The probability of survival was reduced in late-onset SLE (p < 0.001). With respect to this, the 10-year and 15-year survival probability were 74.9 % and 63.3% in the late-onset SLE group and 96.3% and 91.0% in patients with early-onset SLE, respectively. In conclusion, our results confirm that in NW Spain SLE is not uncommon in individuals 50 years and older. In keeping with earlier studies

  12. Empirical antimicrobial therapy for late-onset sepsis in a neonatal unit with high prevalence of coagulase-negative Staphylococcus.

    Science.gov (United States)

    Romanelli, Roberta Maia de Castro; Anchieta, Lêni Márcia; Bueno E Silva, Ana Carolina; de Jesus, Lenize Adriana; Rosado, Viviane; Clemente, Wanessa Trindade

    2016-01-01

    The aim of this study was to compare two different empiric treatments for late-onset neonatal sepsis, vancomycin and oxacillin, in a neonatal intensive care unit with a high prevalence of coagulase-negative Staphylococcus. A cross-sectional study was conducted in an neonatal intensive care unit from 2011 to 2014. Data from the medical records of at-risk newborns were collected daily. Infections were defined according to the National Health Surveillance Agency criteria. Data analysis was performed using an internal program. There was a significant reduction in the number of Staphylococcus aureus infections (p=0.008), without endocarditis, meningitis, or lower respiratory tract infection, as well as a reduction in the frequency of deaths related to S. aureus infection. There were no significant changes in the incidence of Gram-negative bacterial or fungal infections. An increase in coagulase-negative Staphylococcus infections was observed (p=0.022). However, there was no measured increase in related morbidity and mortality. There was a reduction in the median number of days of treatment with oxacillin from 11.5 to 6 days (pneonatal late-onset sepsis with use of oxacillin showed a significant reduction in S. aureus infections, as well as a reduction in the frequency of infections with major organ system involvement and mortality due to infection with this microorganism. As a result, oxacillin can be considered as an effective treatment for late-onset sepsis, making it possible to avoid broad-spectrum antibiotics. Copyright © 2016. Published by Elsevier Editora Ltda.

  13. Early magnetic resonance detection of cortical necrosis and acute network injury associated with neonatal and infantile cerebral infarction

    Energy Technology Data Exchange (ETDEWEB)

    Okabe, Tetsuhiko; Aida, Noriko; Nozawa, Kumiko [Kanagawa Children' s Medical Center, Department of Radiology, Yokohama (Japan); Niwa, Tetsu [Kanagawa Children' s Medical Center, Department of Radiology, Yokohama (Japan); Tokai University School of Medicine, Department of Radiology, Isehara (Japan); Shibasaki, Jun [Kanagawa Children' s Medical Center, Department of Neonatology, Yokohama (Japan); Osaka, Hitoshi [Kanagawa Children' s Medical Center, Department of Neurology, Yokohama (Japan)

    2014-05-15

    Knowledge of MRI findings in pediatric cerebral infarction is limited. To determine whether cortical necrosis and network injury appear in the acute phase in post-stroke children and to identify anatomical location of acute network injury and the ages at which these phenomena are seen. Images from 12 children (age range: 0-9 years; neonates [<1 month], n=5; infants [1 month-12 months], n=3; others [≥1 year], n=4) with acute middle cerebral artery (MCA) cortical infarction were retrospectively analyzed. Cortical necrosis was defined as hyperintense cortical lesions on T1-weighted imaging that lacked evidence of hemorrhage. Acute network injury was defined as hyperintense lesions on diffusion-weighted imaging that were not in the MCA territory and had fiber connections with the affected cerebral cortex. MRI was performed within the first week after disease onset. Cortical necrosis was only found in three neonates. Acute network injury was seen in the corticospinal tract (CST), thalamus and corpus callosum. Acute network injury along the CST was found in five neonates and one 7-month-old infant. Acute network injury was evident in the thalamus of four neonates and two infants (ages 4 and 7 months) and in the corpus callosum of five neonates and two infants (ages 4 and 7 months). The entire thalamus was involved in three children when infarction of MCA was complete. In acute MCA cortical infarction, MRI findings indicating cortical necrosis or acute network injury was frequently found in neonates and early infants. Response to injury in a developing brain may be faster than that in a mature one. (orig.)

  14. 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.

  15. Maternal inheritance in recurrent early-onset depression.

    Science.gov (United States)

    Bergemann, Eric R; Boles, Richard G

    2010-02-01

    Major depressive disorder (MDD) is believed to have a genetic factor in its pathogenesis. On the basis of studies in MDD showing brain energy depletion and maternal inheritance in some families, we hypothesize that some of the genetic factor is likely maternally inherited on the mitochondrial DNA (mtDNA). Six hundred and seventy-two pedigrees from the Genetics of Recurrent Early-Onset Depression project were analyzed for matrilineal/nonmatrilineal pairs. Pairs were constructed to control for sex, age and autosomal gene contribution (e.g. maternal vs. paternal aunts). Individuals with and without any mood disorder were tallied and compared across five different pairs. Matrilineal relatives (with the same mtDNA sequence as the proband) were significantly more likely to suffer from a mood disorder than were nonmatrilineal relatives (with another mtDNA sequence; odds ratio 2.0, 95% confidence interval: 1.5-2.6, P = 3 x 10(-6)). Our data show a modest maternal bias in the susceptibility towards the development of depression, suggesting that predisposing genetic factors likely reside on the mtDNA. Thus, our data strengthen the hypothesis that energy metabolism may be involved in the pathogenesis of depression.

  16. 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.

  17. 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.

  18. 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.

  19. Neuronal correlates of facial emotion discrimination in early onset schizophrenia.

    Science.gov (United States)

    Seiferth, Nina Y; Pauly, Katharina; Kellermann, Thilo; Shah, N Jon; Ott, Gudrun; Herpertz-Dahlmann, Beate; Kircher, Tilo; Schneider, Frank; Habel, Ute

    2009-01-01

    Emotion discrimination deficits represent a well-established finding in schizophrenia. Although imaging studies addressed the cerebral dysfunctions underlying emotion perception in adult patients, the question of trait vs state characteristics is still unresolved. The investigation of juvenile patients offers the advantage of studying schizophrenia at an age where influences of illness course and long-term medication are minimized. This may enable a more detailed characterization of emotion discrimination impairments and their cerebral correlates with respect to their appearance and exact nature. A total of 12 juvenile patients with early onset schizophrenia and matched healthy juveniles participated in this study. fMRI data were acquired during an emotion discrimination task consisting of standardized photographs of faces displaying happy, sad, angry, fearful, or neutral facial expression. Similar to findings in adult patients, juvenile patients exhibited reduced performance specificity whereas sensitivity was unaffected. Independent of the valence, their processing of emotional faces was associated with hypoactivations in both fusiform gyri and in the left inferior occipital gyrus. In addition, hyperactivations in patients were found in the right cuneus common to happy, angry, and fearful faces. Further, most distinct changes were present in juvenile patients when processing sad faces. These results point to a dysfunction in cerebral circuits relevant for emotion processing already prominent in adolescent schizophrenia patients. Regions affected by a decrease in activation are related to visual and face processing, similar to deficits reported in adult patients. These changes are accompanied by hyperactivations in areas related to emotion regulation and attribution, possibly reflecting compensatory mechanisms.

  20. Gestational length affects neurocognition in early-onset schizophrenia.

    Science.gov (United States)

    Teigset, Charlotte M; Mohn, Christine; Rund, Bjørn Rishovd

    2016-10-30

    Obstetric complications (OC) have been linked to an increased risk for schizophrenia in offspring, especially in early-onset schizophrenia (EOS). Extensive cognitive deficits occur in EOS, although no study has yet to investigate the relationship between OC and cognition in EOS. This study aims to examine the frequency of OC in EOS compared to controls, and also investigates the relationship between OC and neurocognitive dysfunction in the two groups. Nineteen EOS patients and 53 healthy controls were tested with the MATRICS Consensus Cognitive Battery (MCCB), and the cognitive measures were combined with OC data from the Norwegian Birth Registry. The results indicated no group differences in OC in EOS and healthy controls, but a shorter gestational length in the EOS group led to significant decreases in the overall neurocognitive composite score, and in processing speed. This suggests that the poorer neuropsychological performances commonly found in EOS may be partly attributable to the length of gestation. The worsened neurocognitive functioning did not appear among controls, so gestational length had a different impact on the two groups. Our findings indicated that a shorter gestational length did not increase the risk for developing EOS, but did significantly affect the cognitive difficulties in this group.

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

    Directory of Open Access Journals (Sweden)

    Amene Saghazadeh

    2017-02-01

    Full Text Available 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.

  2. Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy.

    Science.gov (United States)

    Miyake, Noriko; Fukai, Ryoko; Ohba, Chihiro; Chihara, Takahiro; Miura, Masayuki; Shimizu, Hiroshi; Kakita, Akiyoshi; Imagawa, Eri; Shiina, Masaaki; Ogata, Kazuhiro; Okuno-Yuguchi, Jiu; Fueki, Noboru; Ogiso, Yoshifumi; Suzumura, Hiroshi; Watabe, Yoshiyuki; Imataka, George; Leong, Huey Yin; Fattal-Valevski, Aviva; Kramer, Uri; Miyatake, Satoko; Kato, Mitsuhiro; Okamoto, Nobuhiko; Sato, Yoshinori; Mitsuhashi, Satomi; Nishino, Ichizo; Kaneko, Naofumi; Nishiyama, Akira; Tamura, Tomohiko; Mizuguchi, Takeshi; Nakashima, Mitsuko; Tanaka, Fumiaki; Saitsu, Hirotomo; Matsumoto, Naomichi

    2016-10-06

    We describe four families with affected siblings showing unique clinical features: early-onset (before 1 year of age) progressive diffuse brain atrophy with regression, postnatal microcephaly, postnatal growth retardation, muscle weakness/atrophy, and respiratory failure. By whole-exome sequencing, we identified biallelic TBCD mutations in eight affected individuals from the four families. TBCD encodes TBCD (tubulin folding co-factor D), which is one of five tubulin-specific chaperones playing a pivotal role in microtubule assembly in all cells. A total of seven mutations were found: five missense mutations, one nonsense, and one splice site mutation resulting in a frameshift. In vitro cell experiments revealed the impaired binding between most mutant TBCD proteins and ARL2, TBCE, and β-tubulin. The in vivo experiments using olfactory projection neurons in Drosophila melanogaster indicated that the TBCD mutations caused loss of function. The wide range of clinical severity seen in this neurodegenerative encephalopathy may result from the residual function of mutant TBCD proteins. Furthermore, the autopsied brain from one deceased individual showed characteristic neurodegenerative findings: cactus and somatic sprout formations in the residual Purkinje cells in the cerebellum, which are also seen in some diseases associated with mitochondrial impairment. Defects of microtubule formation caused by TBCD mutations may underlie the pathomechanism of this neurodegenerative encephalopathy. Copyright © 2016 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  3. Pretreatment Cardiometabolic Status in Youth With Early-Onset Psychosis

    DEFF Research Database (Denmark)

    Jensen, Karsten G; Correll, Christoph U; Rudå, Ditte

    2017-01-01

    : Comparing 113 youths with FEP (age ± SD = 15.74 ± 1.36 years, males = 30.1%, schizophrenia-spectrum disorders = 92.9%, antipsychotic-naive: n = 57) to 60 controls, patients had higher waist circumference (WC) z scores (1.13 ± 1.65 vs 0.42 ± 1.27, P = .018), cholesterol (4.10 ± 0.71 vs 3.79 ± 0.49 mmol/L, P...... percentile. Hypercholesterolemia (34.0% vs 12.5%, P = .015) was more frequent in patients, while decreased high-density lipoprotein cholesterol was more frequent in controls (32.5% vs 19.0%, P = .032). Family history of type 2 diabetes mellitus was associated with increased body mass index (BMI) z score (P...... exposure was not associated with increased cardiometabolic risk. Early age at onset predicted increased BMI and WC z scores, while diagnosis of schizophrenia and higher Clinical Global Impression-Severity score were associated with increased blood lipids. CONCLUSIONS: Youths with FEP had significantly...

  4. 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.

  5. Cardiovascular disease risk factors after early-onset preeclampsia, late-onset preeclampsia, and pregnancy-induced hypertension.

    Science.gov (United States)

    Veerbeek, Jan H W; Hermes, Wietske; Breimer, Anath Y; van Rijn, Bas B; Koenen, Steven V; Mol, Ben W; Franx, Arie; de Groot, Christianne J M; Koster, Maria P H

    2015-03-01

    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 investigated whether these differences in CVD risk factors are already present at postpartum cardiovascular screening. We evaluated postpartum differences in CVD risk factors in 3 subgroups of patients with a history of hypertensive pregnancy. We compared the prevalence of common CVD risk factors postpartum among 448 women with previous early-onset preeclampsia, 76 women with previous late-onset preeclampsia, and 224 women with previous pregnancy-induced hypertension. Women with previous early-onset preeclampsia were compared with women with late-onset preeclampsia and pregnancy-induced hypertension and had significantly higher fasting blood glucose (5.29 versus 4.80 and 4.83 mmol/L), insulin (9.12 versus 6.31 and 6.7 uIU/L), triglycerides (1.32 versus 1.02 and 0.97 mmol/L), and total cholesterol (5.14 versus 4.73 and 4.73 mmol/L). Almost half of the early-onset preeclampsia women had developed hypertension, as opposed to 39% and 25% of women in the pregnancy-induced hypertension and late-onset preeclampsia groups, respectively. Our data show differences in the prevalence of common modifiable CVD risk factors postpartum and suggest that prevention strategies should be stratified according to severity and gestational age of onset for the hypertensive disorders of pregnancy.

  6. The efficacy of pancreatic kallikrein treatment of early-onset preeclampsia and which impact of patient D-dimmer

    Institute of Scientific and Technical Information of China (English)

    Ying Yu; Min Liu

    2015-01-01

    Objective: To analyze the pancreatic kallikrein treatment of early-onset preeclampsia therapeutic effect and impact on patients D-dimer. Methods: 94 cases of early-onset pre-eclampsia patients were divided into the control group and the observation group. In the control group patients were treated with magnesium sulfate treatment. In the observation group patients were treated with pancreatic kallikrein based on the control group use of common treatment. Results: After treatment, D-dimer levels in serum in the observation group patients were lower than that of the control group, significant differences (P<0.01). After treatment, 24 h urine protein, random urine protein/creatinine ratio in urine in the observation group patients were lower than that of the control group, significant differences (P<0.01). The incidence of severe neonatal asphyxia was 4.26% in the observation group patients were lower than that of the control group was 29.79%, significant differences (P<0.01). After treatment, Pregnancy was prolonged (12.43±4.31) days, gestational age newborns (35.84±2.71) weeks, birth weight (2 564.21±507.19) g in the observation group patients were higher than that of the control group, significant differences (P<0.01). Conclusions: Pancreatic kallikrein treatment of early-onset preeclampsia can effectively improve the treatment, ameliorate the hypercoagulable state and renal function of the patients’ blood, extend the number of days of pregnancy, and reduce the incidence of severe neonatal asphyxia.

  7. Life-threatening intracranial bleeding in a newborn with congenital cytomegalovirus infection: late-onset neonatal hemorrhagic disease.

    Science.gov (United States)

    Dallar, Yildiz; Tiras, Ulku; Catakli, Tulin; Gulal, Gonul; Sayar, Yavuz; Selvar, Beray; Alioglu, Bulent

    2011-02-01

    The authors present a case of a 36-day-old infant with intracranial and intramuscular hemorrhage due to vitamin K deficiency bleeding, who received intramuscular vitamin K prophylaxis at birth. In this case, laboratory tests showed anemia, liver dysfunction with cholestasis, and coagulopathy, consistent with vitamin K deficiency abnormality. Serological analyses showed that cytomegalovirus immunoglobulin (Ig)M and IgG avidity were both positive. The infant was treated successfully with intravenous ganciclovir and blood products. This case suggests that it is imperative to meticulously investigate the etiology in neonates with late-onset hemorrhagic disease of the newborn. Cholestatic liver disease caused by congenital cytomegalovirus infection should be in mind in term infants who presented with late-onset hemorrhagic disease.

  8. Diazepam effect during early neonatal development correlates with neuronal Cl−

    OpenAIRE

    2015-01-01

    Abstract Objective: Although benzodiazepines and other GABAA receptors allosteric modulators are used to treat neonatal seizures, their efficacy may derive from actions on subcortical structures. Side effects of benzodiazepines in nonseizing human neonates include myoclonus, seizures, and abnormal movements. Excitatory actions of GABA may underlie both side effects and reduced anticonvulsant activity of benzodiazepines. Neocortical organotypic slice cultures were used to study: (1) spontaneou...

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

    Directory of Open Access Journals (Sweden)

    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.

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

    Energy Technology Data Exchange (ETDEWEB)

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

    1995-12-18

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

  11. 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 J.W.); 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

  12. Late-onset Streptococcus pasteurianus sepsis in a preterm baby in a neonatal intensive care unit

    Science.gov (United States)

    Tarakçı, Nuriye; Dağı, Hatice Türk; Uğur, Ayşe Rüveyda; Tuncer, İnci; Taştekin, Ayhan

    2014-01-01

    Apnea, cyanosis, lethargy and prolongation in capillary filling time developed on the postnatal 37th day in a preterm baby who was born at the 30th gestational week with a birth weight of 1 300 g. Acute phase reactants and immature/total neutrophil count ratio were found to be high. The patient who was diagnosed with sepsis was successfully treated with meropenem which was started empirically. In his blood culture Streptococcus pasteurianus grew. S. pasteurianus is in the subgroup of streptococcus bovis which is one of the D group streptococci and its previous name is S. bovis type II/2. In the literature, there are very few cases of neonatal infection related with this bacterium. As far as we know, this is first case of neonatal sepsis caused by S. pasteurianus in Turkey. In addition, we tried to determine the clinical properties of neonatal infections arising from S. pasteurianus by reviewing the literature. PMID:26078653

  13. Clinical features and gene analysis in Korean patients with early-onset Parkinson disease.

    Science.gov (United States)

    Chung, Eun Joo; Ki, Chang-Seok; Lee, Won Yong; Kim, In-Suk; Kim, Ji-Youn

    2006-08-01

    Systematic analysis of clinical features and gene mutations has not been performed in Korean patients with early-onset Parkinson disease (PD). To investigate the clinical characteristics and genetic background of Korean patients with early-onset PD. Clinical and genetic study. University hospital. Ninety-four patients with early-onset PD (mean +/- SD age at onset, 39.8 +/- 7.3 years) of 1100 patients with PD. Analysis of clinical characteristics and mutation analysis of the parkin and PTEN-induced kinase (PINK1) genes by direct sequencing and gene-dosage analysis using the multiplex ligation-dependent probe amplification technique. The correlation between age at onset and clinical characteristics and the clinical features of patients with onset before age 30 years vs patients with onset after age 30 years. Because age at onset was younger, levodopa-induced dyskinesia and off-dystonia were more frequently observed (P=.008). Patients affected before age 30 years showed more frequent levodopa-induced dyskinesia and off-dystonia (P=.002). We identified 3 patients (5%) with parkin gene mutations but none with the PINK1 mutation. Earlier onset of levodopa-induced dyskinesia and off-dystonia were characteristic features of early-onset PD, especially before an onset age of 30 years. However, parkin gene mutations were less frequent in these patients than in Japanese groups reported elsewhere.

  14. Regulatory T cell frequencies are increased in preterm infants with clinical early-onset sepsis.

    Science.gov (United States)

    Pagel, J; Hartz, A; Figge, J; Gille, C; Eschweiler, S; Petersen, K; Schreiter, L; Hammer, J; Karsten, C M; Friedrich, D; Herting, E; Göpel, W; Rupp, J; Härtel, C

    2016-08-01

    The predisposition of preterm neonates to invasive infection is, as yet, incompletely understood. Regulatory T cells (Tregs ) are potential candidates for the ontogenetic control of immune activation and tissue damage in preterm infants. It was the aim of our study to characterize lymphocyte subsets and in particular CD4(+) CD25(+) forkhead box protein 3 (FoxP3)(+) Tregs in peripheral blood of well-phenotyped preterm infants (n = 117; 23 + 0 - 36 + 6 weeks of gestational age) in the first 3 days of life in comparison to term infants and adults. We demonstrated a negative correlation of Treg frequencies and gestational age. Tregs were increased in blood samples of preterm infants compared to term infants and adults. Notably, we found an increased Treg frequency in preterm infants with clinical early-onset sepsis while cause of preterm delivery, e.g. chorioamnionitis, did not affect Treg frequencies. Our data suggest that Tregs apparently play an important role in maintaining maternal-fetal tolerance, which turns into an increased sepsis risk after preterm delivery. Functional analyses are needed in order to elucidate whether Tregs have potential as future target for diagnostics and therapeutics.

  15. Strong family history and early onset of schizophrenia: about 2 families in Northern Nigeria

    OpenAIRE

    Nuhu, Folorunsho Tajudeen; Eseigbe, Edwin Ehi; Issa, Baba Awoye; Gomina, Michael Omeiza

    2016-01-01

    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 subpopulations for genetic studies. We present 2 families with heavy genetic loading who have adolescents with schizophrenia.

  16. Strong family history and early onset of schizophrenia: about 2 families in Northern Nigeria.

    Science.gov (United States)

    Nuhu, Folorunsho Tajudeen; Eseigbe, Edwin Ehi; Issa, Baba Awoye; Gomina, Michael Omeiza

    2016-01-01

    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 subpopulations for genetic studies. We present 2 families with heavy genetic loading who have adolescents with schizophrenia.

  17. Treatment of Early-Onset Schizophrenia Spectrum Disorders (TEOSS): Rationale, Design, and Methods

    Science.gov (United States)

    McClellan, Jon; Sikich, Linmarie; Findling, Robert L.; Frazier, Jean A.; Vitiello, Benedetto; Hlastala, Stefanie A.; Williams, Emily; Ambler, Denisse; Hunt-Harrison, Tyehimba; Maloney, Ann E.; Ritz, Louise; Anderson, Robert; Hamer, Robert M.; Lieberman, Jeffrey A.

    2007-01-01

    Objective: The Treatment of Early Onset Schizophrenia Spectrum Disorders Study is a publicly funded clinical trial designed to compare the therapeutic benefits, safety, and tolerability of risperidone, olanzapine, and molindone in youths with early-onset schizophrenia spectrum disorders. The rationale, design, and methods of the Treatment of Early…

  18. 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…

  19. Rare variants in GJA5 are associated with early-onset lone atrial fibrillation

    DEFF Research Database (Denmark)

    Christophersen, Ingrid E; Holmegard, Haya N; Jabbari, Javad;

    2013-01-01

    Genetic factors are believed to be important in early-onset lone atrial fibrillation (AF). The gene GJA5 encodes the gap-junction protein Cx40, which together with Cx43 is responsible for the electrical coupling of the atrial cardiomyocytes. The regulatory single nucleotide polymorphism rs10465885...... in GJA5 was recently associated with early-onset lone AF (...

  20. 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…

  1. Follow up of intima-media thickness after severe early-onset preeclampsia

    NARCIS (Netherlands)

    Blaauw, Judith; Souwer, Esteban T D; Coffeng, Sophie M; Smit, Andries J; van Doormaal, Jasper J; Faas, Marijke M; van Pampus, Maria G

    2014-01-01

    OBJECTIVE: Early-onset preeclampsia is associated with premature cardiovascular disease. We previously demonstrated that femoral intima-media thickness (IMT) and markers of cardiovascular disease were increased in women 1 year after early-onset preeclampsia. The current study measured (progression o

  2. 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…

  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. [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

    2015-01-01

    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 a

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

    Science.gov (United States)

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

    2013-01-01

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

  6. Association analysis of the tyrosine hydroxylase gene polymorphisms with early-onset schizophrenia in Chinese population

    Institute of Scientific and Technical Information of China (English)

    吕钦谕

    2014-01-01

    Objective To investigate the relationship between the tyrosine hydroxylase(TH)gene and early-onset schizophrenia in Chinese Han population.Methods To tag single nucleotide polymorphisms(tag SNPs)rs2070762,rs6356 and rs11042978 in the TH gene were genotyped in 315 early-onset schizophrenics(188 male patients,127 female patients)and 391 controls subjects

  7. 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 pre

  8. Parental and Child Characteristics Related to Early-Onset Disordered Eating

    DEFF Research Database (Denmark)

    Larsen, Pernille Stemann; Strandberg-Larsen, Katrine; Micali, Nadia

    2015-01-01

    characteristics related to early-onset disordered eating. Systematic searches were conducted in PubMED/MEDLINE, EMBASE, and PsycInfo using the following search terms: eating disorder, disordered eating, problem eating, anorexia nervosa, bulimia nervosa, binge eating, child, preadolescent, and early onset. Studies...

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

    Science.gov (United States)

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

    2009-01-01

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

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

    Science.gov (United States)

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

    2009-01-01

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

  11. Whole exome sequencing identifies de novo heterozygous CAV1 mutations associated with a novel neonatal onset lipodystrophy syndrome.

    Science.gov (United States)

    Garg, Abhimanyu; Kircher, Martin; Del Campo, Miguel; Amato, R Stephen; Agarwal, Anil K

    2015-08-01

    Despite remarkable progress in identifying causal genes for many types of genetic lipodystrophies in the last decade, the molecular basis of many extremely rare lipodystrophy patients with distinctive phenotypes remains unclear. We conducted whole exome sequencing of the parents and probands from six pedigrees with neonatal onset of generalized loss of subcutaneous fat with additional distinctive phenotypic features and report de novo heterozygous null mutations, c.424C>T (p.Q142*) and c.479_480delTT (p.F160*), in CAV1 in a 7-year-old male and a 3-year-old female of European origin, respectively. Both the patients had generalized fat loss, thin mottled skin and progeroid features at birth. The male patient had cataracts requiring extraction at age 30 months and the female patient had pulmonary arterial hypertension. Dermal fibroblasts of the female patient revealed negligible CAV1 immunofluorescence staining compared to control but there were no differences in the number and morphology of caveolae upon electron microscopy examination. Based upon the similarities in the clinical features of these two patients, previous reports of CAV1 mutations in patients with lipodystrophies and pulmonary hypertension, and similar features seen in CAV1 null mice, we conclude that these variants are the most likely cause of one subtype of neonatal onset generalized lipodystrophy syndrome.

  12. Is CD36 gene polymorphism in region encoding lipid-binding domain associated with early onset CAD?

    Science.gov (United States)

    Rać, Monika; Safranow, Krzysztof; Kurzawski, Grzegorz; Krzystolik, Andrzej; Chlubek, Dariusz

    2013-11-01

    CD36 is a fatty acid translocase in striated muscle cells and cardiomyocytes. Some study suggested that alterations in CD36 gene may be associated with coronary artery disease (CAD) risk. The aim of the current study was to compare the frequency of CD36 variants in region encoding lipid-binding domain in Caucasian patients with early-onset CAD, no-CAD adult controls and neonates. The study group comprised 100 patients with early onset CAD. The genetic control groups were 306 infants and 40 no-CAD adults aged over 70years. Exons 4, 5 and 6 including fragments of flanking introns were studied using the denaturing high-performance liquid chromatography technique and direct sequencing. Changes detected in analyzed fragment of CD36: IVS3-6 T/C (rs3173798), IVS4-10 G/A (rs3211892), C311T (Thr104Ile, not described so far) in exon 5, G550A (Asp184Asn, rs138897347), C572T (Pro191Leu, rs143150225), G573A (Pro191Pro, rs5956) and A591T (Thr197Thr, rs141680676) in exon 6. No significant differences in the CD36 genotype, allele and haplotype frequencies were found between the three groups. Only borderline differences (p=0.066) were found between early onset CAD patients and newborns in the frequencies of 591T allele (2.00% vs 0.50%) and CGCGCGT haplotype (2.00% vs 0.50%) with both IVS3-6C and 591T variant alleles. In conclusion, CD36 variants: rs3173798, rs3211892, rs138897347, rs5956, rs143150225 rs141680676 and C311T do not seem to be involved in the risk of early-onset CAD in Caucasian population.

  13. Is procalcitonin to C-reactive protein ratio useful for the detection of late onset neonatal sepsis?

    Science.gov (United States)

    Hahn, Won-Ho; Song, Joon-Hwan; Kim, Ho; Park, Suyeon

    2017-02-21

    Procalcitonin (PCT) has been reported as a sensitive marker for neonatal bacterial infections. Recently, small numbers of studies reported usefulness of PCT/C-reactive protein (CRP) ratio in detection of infectious conditions in adults. Thus, we conducted this study to evaluate PCT/CRP ratio in late onset neonatal sepsis. Serum PCT and CRP was measured in blood samples from 7-60 days after birth in 106 of neonates with late onset sepsis and 212 of controls who were matched with gestational age, postnatal age, birth weight and gender. Areas under ROC curve (AUC) were calculated and pairwise comparisons between ROC curves were performed. As a result, CRP (AUC 0.96) showed best performance in detection of sepsis from healthy controls compared with PCT (AUC 0.87) and PCT/CRP ratio (AUC 0.62); CRP > PCT > PCT/CRP ratio in pairwise comparison (Psepsis from healthy controls compared with PCT/CRP ratio (AUC 0.54); CRP = PCT > PCT/CRP ratio in pairwise comparison (Pdetection of blood culture proven sepsis from suspected sepsis, PCT (AUC 0.70) and PCT/CRP ratio (AUC 0.73) showed better performance compared with CRP (AUC 0.51); PCT = PCT/CRP ratio > CRP in pairwise comparison (Psepsis and healthy controls. However, PCT/CRP ratio seems to be helpful in distinguishing proven sepsis from suspected sepsis together with PCT. Further studies are warranted to elucidate the efficacy of PCT/CRP ratio with enrollment of enough numbers of infants.

  14. New-Onset Neonatal Pulmonary Hypertension Associated with a Rhinovirus Infection

    OpenAIRE

    Nishit Patel; The, Tiong G

    2012-01-01

    A 3.5-week-old male neonate who developed an upper and lower respiratory tract rhinovirus infection that was temporally associated with the development of severe pulmonary hypertension is described. Rhinovirus has not previously been associated with pulmonary hypertension. This child developed severe pulmonary hypertension with right ventricular failure, requiring mechanical ventilation, nitric oxide inhalation and, eventually, extracorporeal membrane oxygenation.

  15. Early onset scoliosis: the value of serial risser casts.

    Science.gov (United States)

    Waldron, Sean R; Poe-Kochert, Connie; Son-Hing, Jochen P; Thompson, George H

    2013-12-01

    Treatment of early onset scoliosis (EOS) is challenging. In many cases, bracing will not be effective and growing rod surgery may be inappropriate. Serial, Risser casts may be an effective intermediate method of treatment. We studied 20 consecutive patients with EOS who received serial Risser casts under general anesthesia between 1999 and 2011. Analyses included diagnosis, sex, age at initial cast application, major curve severity, initial curve correction, curve magnitude at the time of treatment change or latest follow-up for those still in casts, number of casts per patient, the type of subsequent treatment, and any complications. There were 8 patients with idiopathic scoliosis, 6 patients with neuromuscular scoliosis, 5 patients with syndromic scoliosis, and 1 patient with skeletal dysplasia. Fifteen patients were female and 5 were male. The mean age at first cast was 3.8±2.3 years (range, 1 to 8 y), and the mean major curve magnitude was 74±18 degrees (range, 40 to 118 degrees). After initial cast application, the major curve measured 46±14 degrees (range, 25 to 79 degrees). At treatment change or latest follow-up for those still in casts, the major curve measured 53±24 degrees (range, 13 to 112 degrees). The mean time in casts was 16.9±9.1 months (range, 4 to 35 mo). The mean number of casts per patient was 4.7±2.2 casts (range, 1 to 9 casts). At the time of this study, 7 patients had undergone growing rod surgery, 6 patients were still undergoing casting, 5 returned to bracing, and 2 have been lost to follow-up. Four patients had minor complications: 2 patients each with superficial skin irritation and cast intolerance. Serial Risser casting is a safe and effective intermediate treatment for EOS. It can stabilize relatively large curves in young children and allows the child to reach a more suitable age for other forms of treatment, such as growing rods. Level IV; case series.

  16. Walking strategies in subjects with congenital or early onset strabismus

    Directory of Open Access Journals (Sweden)

    Irene eAprile

    2014-07-01

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

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

    OpenAIRE

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

    2005-01-01

    CYP7B1 is the enzyme responsible for hydroxylation and termination of the estrogenic actions of the androgen metabolite, 5α-androstane-3β, 17β-diol (3βAdiol). 3βAdiol is estrogenic in ERα or ERβ positive cells only if they do not express CYP7B1. In this study we show that female CYP7B1–/– mice experience early onset of growth of the uterus and mammary glands and commence estrus cycles 2 days earlier than their wild-type littermates. Adult mammary glands and uteri appear to be under continuous...

  18. Placental Nkx2-5 and target gene expression in early-onset and severe preeclampsia.

    Science.gov (United States)

    Rivers, Elena R; Horton, Anthony J; Hawk, Angela F; Favre, Elizabeth G; Senf, Katherine M; Nietert, Paul J; Chang, Eugene Y; Foley, Ann C; Robinson, Christopher J; Lee, Kyu-Ho

    2014-11-01

    Preeclampsia (PE) affects 2-8% of pregnancies worldwide and is a significant source of maternal and neonatal morbidity and mortality. However, the mechanisms underlying PE are poorly understood and major questions regarding etiology and risk factors remain to be addressed. Our objective was to examine whether abnormal expression of the cardiovascular developmental transcription factor, Nkx2-5, was associated with early onset and severe preeclampsia (EOSPE). Using qPCR and immunohistochemical assay, we examined expression of Nkx2-5 and target gene expression in EOSPE and control placental tissue. We tested resulting mechanistic hypotheses in cultured cells using shRNA knockdown, qPCR, and western blot. Nkx2-5 is highly expressed in racially disparate fashion (Caucasians > African Americans) in a subset of early EOSPE placentae. Nkx2-5 mRNA expression is highly correlated (Caucasians > African Americans) to mRNA expression of the preeclampsia marker sFlt-1, and of the Nkx2-5 target and RNA splicing factor, Sam68. Knockdown of Sam68 expression in cultured cells significantly impacts sFlt-1 mRNA isoform generation in vitro, supporting a mechanistic hypothesis that Nkx2-5 impacts EOSPE severity in a subset of patients via upregulation of Sam68 to increase sFlt-1 expression. Expression of additional Nkx2-5 targets potentially regulating metabolic stress response is also elevated in a racially disparate fashion in EOSPE. Expression of Nkx2-5 and its target genes may directly influence the genesis and racially disparate severity, and define a mechanistically distinct subclass of EOSPE.

  19. N-carbamylglutamate in emergency management of hyperammonemia in neonatal acute onset propionic and methylmalonic aciduria.

    Science.gov (United States)

    Filippi, Luca; Gozzini, Elena; Fiorini, Patrizio; Malvagia, Sabrina; la Marca, Giancarlo; Donati, Maria Alice

    2010-01-01

    In propionic aciduria and methylmalonic aciduria, hyperammonemia as a symptom of metabolic decompensation is one of the major clinical problems. Hyperammonemia is a true neonatal emergency with high mortality and neurological complications in most survivors. It requires a rapid and vigorous treatment in order to normalize the ammonia concentration as fast as possible. We report on two full-term neonates, one with propionic aciduria and the other with methylmalonic aciduria, whose plasma ammonia concentrations responded dramatically to oral N-carbamylglutamate. N-carbamylglutamate, added to the classic treatment, quickly normalized plasma ammonia levels in both patients and avoided the need of hemodialysis or peritoneal dialysis. A particularly sudden fall of ammonia was obtained in one patient through beginning N-carbamylglutamate treatment precociously.

  20. New-Onset Neonatal Pulmonary Hypertension Associated with a Rhinovirus Infection

    Directory of Open Access Journals (Sweden)

    Nishit Patel

    2012-01-01

    Full Text Available A 3.5-week-old male neonate who developed an upper and lower respiratory tract rhinovirus infection that was temporally associated with the development of severe pulmonary hypertension is described. Rhinovirus has not previously been associated with pulmonary hypertension. This child developed severe pulmonary hypertension with right ventricular failure, requiring mechanical ventilation, nitric oxide inhalation and, eventually, extracorporeal membrane oxygenation.

  1. Dissecting Allele Architecture of Early Onset IBD Using High-Density Genotyping.

    Directory of Open Access Journals (Sweden)

    David J Cutler

    Full Text Available The inflammatory bowel diseases (IBD are common, complex disorders in which genetic and environmental factors are believed to interact leading to chronic inflammatory responses against the gut microbiota. Earlier genetic studies performed in mostly adult population of European descent identified 163 loci affecting IBD risk, but most have relatively modest effect sizes, and altogether explain only ~20% of the genetic susceptibility. Pediatric onset represents about 25% of overall incident cases in IBD, characterized by distinct disease physiology, course and risks. The goal of this study is to compare the allelic architecture of early onset IBD with adult onset in population of European descent.We performed a fine mapping association study of early onset IBD using high-density Immunochip genotyping on 1008 pediatric-onset IBD cases (801 Crohn's disease; 121 ulcerative colitis and 86 IBD undetermined and 1633 healthy controls. Of the 158 SNP genotypes obtained (out of the 163 identified in adult onset, this study replicated 4% (5 SNPs out of 136 of the SNPs identified in the Crohn's disease (CD cases and 0.8% (1 SNP out of 128 in the ulcerative colitis (UC cases. Replicated SNPs implicated the well known NOD2 and IL23R. The point estimate for the odds ratio (ORs for NOD2 was above and outside the confidence intervals reported in adult onset. A polygenic liability score weakly predicted the age of onset for a larger collection of CD cases (p< 0.03, R2= 0.007, but not for the smaller number of UC cases.The allelic architecture of common susceptibility variants for early onset IBD is similar to that of adult onset. This immunochip genotyping study failed to identify additional common variants that may explain the distinct phenotype that characterize early onset IBD. A comprehensive dissection of genetic loci is necessary to further characterize the genetic architecture of early onset IBD.

  2. Neonatal morbidity and early outcome of very preterm infants

    Directory of Open Access Journals (Sweden)

    Heljić Suada

    2013-03-01

    Full Text Available Background: Although the mortality rate for preterm infants and the gestational age-specific mortality rate have dramatically improved over the last 3 to 4 decades, infants born preterm remain vulnerable to many complications, including respiratory distress syndrome, chronic lung disease, necrotizing enterocolitis, a compromised immune system, cardiovascular disorders, hearing and vision problems, and brain lesions. The aim is to determine mortality and morbidity rates and selected outcome variables for preterm infant’s grade 3 IVH or PVL 16.6%, NEC Bell stages II or III 9.8%, BPD 25/72 (33.3% of infants who survived to 36 weeks postmenstrual age. In 38 (37.2% infants, episodes of infections were noticed (one or more episodes in 25 infants, half of them were caused by Gram positive bacteria, most frequent coagulasa negative staphylococci. Klebsiella pneumoniae was the most frequent organism among Gram negative bacteria. One patient had invasive candidiasis caused by Candida albicans. In 5 infants (4.9% early onset of sepsis was documented. Conclusion: Very preterm infants remain very vulnerable group of population, and interventions to reduce the morbidity and mortality of preterm babies include tertiary interventions such as regionalized care, transportation in uterus, and treatment with antenatal steroids.

  3. Can sTREM-1 predict septic shock & death in late-onset neonatal sepsis? A pilot study.

    Science.gov (United States)

    Arízaga-Ballesteros, Víctor; Alcorta-García, Mario René; Lázaro-Martínez, Lizzeth Carolina; Amézquita-Gómez, Jesús Manuel; Alanís-Cajero, José Manuel; Villela, Luis; Castorena-Torres, Fabiola; Lara-Díaz, Víctor Javier

    2015-01-01

    The transmembrane glycoprotein TREM-1 triggers an inflammatory response. Its soluble fraction (sTREM-1) has been shown to have diagnostic accuracy for late-onset neonatal sepsis (LONS). Until now, the potential of sTREM-1 to predict septic shock and/or death in septic neonates has not been explored. This study obtained estimates of the incidence and prevalence of septic shock and/or death in septic neonates for future sample size calculations for confirmatory studies and evaluated the feasibility of using sTREM-1 as a predictor of septic shock and/or death in neonates with LONS criteria. A pilot study with a cross-sectional design was performed from May 1(st) to October 31(st), 2012. The participants were hospitalized neonates who, after three days of life, were diagnosed as having LONS. Plasma sTREM-1 was quantified by ELISA. The main outcome measurement was the development of septic shock and/or death. Of 71 eligible subjects, nine (12.7%) progressed to septic shock and/or death. In the LONS-Non-Shock group, the sTREM-1 median and interquartile range (IQR) plasma value were 10 (10 to 70) pg/mL. In the LONS & Shock/Death group, the values were 567 (260 to 649) pg/mL. These values were significantly different (Mann-Whitney's U test, p=0.001). A ROC curve for a proposed sTREM-1 cut-off value of 300 pg/mL exhibited an area under the curve of 0.884 (95% CI=0.73 to 1.0; pneonates with LONS, sTREM-1 has the potential to provide an excellent predictive value for septic shock/death. Larger sample sizes are needed to identify the optimal cut-off value of plasma sTREM-1 for this diagnosis and to provide diagnostic accuracy measures. Copyright © 2014 The Authors. Published by Elsevier Ltd.. All rights reserved.

  4. Working memory and FDG-PET dissociate early and late onset Alzheimer disease patients.

    Science.gov (United States)

    Kalpouzos, Grégoria; Eustache, Francis; de la Sayette, Vincent; Viader, Fausto; Chételat, Gaël; Desgranges, Béatrice

    2005-05-01

    The aims of this study were to determine the influence of the onset of Alzheimer's disease (AD) on 1) memory and cerebral glucose metabolism, 2) the relationships between cognitive performance and cerebral glucose metabolism. Brain metabolism was measured by 18FDG-PET in 12 early onset AD patients (age 65), with comparable mean MMSE scores. Working memory, semantic memory and episodic memory were assessed. Cognitivo-metabolic correlations (CMC) and complementary interregional correlations were performed in order to identify specific neurocognitive processes within each group. Both AD groups performed poorly on all tasks, except digit span in the late onset group. The early onset group performed more poorly than the late onset one on both the digit span and Brown-Peterson Paradigm (BPP) tasks. Temporo-parietal hypometabolism was found in both groups, the left hemisphere being more affected than the right, especially in the early onset patients, who also showed specific left frontal hypometabolism. For the BPP task, the CMC principally involved left frontal areas in the early onset group, and the cerebellum in the late onset one. For the digit span task, they involved cerebellar and occipital regions in the latter. Regarding the digit span, the occipital and cerebellar involvement may have reflected an effective compensatory mechanism in the late onset patients, while high left supramarginal gyrus hypometabolism in the early onset patients may have explained their failure in this task. In the BPP task, the lower performance of the early onset group may have been due to a frontal lobe dysfunction, as suggested by 1) the hypometabolism of this region, 2) the CMC results, 3) the interregional correlations, which indicated greater disruption of the antero- posterior loop.

  5. Pantoea dispersa: an unusual cause of neonatal sepsis.

    Science.gov (United States)

    Mehar, Veerendra; Yadav, Dinesh; Sanghvi, Jyoti; Gupta, Nidhi; Singh, Kuldeep

    2013-01-01

    Neonatal septicemia is the most important cause of neonatal mortality. A wide variety of bacteria both aerobic and anaerobic can cause neonatal sepsis. Genus Pantoea is a member of Enterobacteriaceae family that inhabits plants, soil and water and rarely causes human infections, however, Pantoea dispersa has not been reported as a causative organism for neonatal sepsis. We hereby report two neonates with early onset sepsis caused by Pantoea dispersa. Early detection and appropriate antibiotic therapy can improve overall outcome of this rare infection in neonates. Copyright © 2013 Elsevier Editora Ltda. All rights reserved.

  6. Pantoea dispersa: an unusual cause of neonatal sepsis

    Directory of Open Access Journals (Sweden)

    Veerendra Mehar

    Full Text Available Neonatal septicemia is the most important cause of neonatal mortality. A wide variety of bacteria both aerobic and anaerobic can cause neonatal sepsis. Genus Pantoea is a member of Enterobacteriaceae family that inhabits plants, soil and water and rarely causes human infections, however, Pantoea dispersa has not been reported as a causative organism for neonatal sepsis. We hereby report two neonates with early onset sepsis caused by Pantoea dispersa. Early detection and appropriate antibiotic therapy can improve overall outcome of this rare infection in neonates.

  7. Early neonatal special care units and their scientific achievements.

    Science.gov (United States)

    Obladen, Michael

    2012-01-01

    Treatment of sick neonates originated in maternity and foundling hospitals in the 19th century. Nosocomial infections and difficult logistics of wet-nursing prevented admission of neonates in most children's hospitals well into the 20th century. In this article, 31 hospitals are described, all located in large cities, in which preterm and sick neonates were treated before the Great Depression. Even though mostly initiated by private charity, these institutions performed research right from the start. Topics included warming and feeding preterm infants, collecting and distributing human milk, developing and storing breast milk substitutes, prevention of rickets and nosocomial infections, maternal and public education regarding infection control, pathoanatomic characterisation of diseases and malformations and epidemiologic studies of infant mortality. These pioneering hospitals, their founding dates, researchers and classic publications are presented in a table.

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

    Science.gov (United States)

    2015-04-01

    a potential modulator of Abeta toxicity), and NOTCH4 (a presenilin pathway gene). Exome chip results identified variants in MICA encoding the HLA-A...and 2+ Non-white Hispanic families, including the AD-relevant HLA-A (associated with earlier AD age-at-onset), CHST15 (a potential modulator or Abeta

  9. 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

  10. 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. Early-Onset, Regular Cannabis Use Is Linked to IQ Decline

    Science.gov (United States)

    ... Is Linked to IQ Decline Early-Onset, Regular Cannabis Use Is Linked to IQ Decline Email Facebook ... that cannabis use may harm the developing brain. Cannabis Use Correlates With Cognitive Decline The study participants ...

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

    National Research Council Canada - National Science Library

    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

    2016-01-01

    ... (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...

  3. Relationship between early onset severe intrahepatic cholestasis of pregnancy and higher risk of meconium-stained fluid.

    Science.gov (United States)

    Estiú, Maria C; Frailuna, Maria A; Otero, Carla; Dericco, Marcela; Williamson, Catherine; Marin, Jose J G; Macias, Rocio I R

    2017-01-01

    Intrahepatic cholestasis of pregnancy (ICP) is the commonest gestational liver disease. The risk of adverse fetal outcome has been associated with the severity of maternal hypercholanemia after diagnosis. To investigate whether there is a relationship between the severity and timing of onset of hypercholanemia and the risk of meconium-stained amniotic fluid (MSAF) and adverse neonatal events. The study included 382 pregnancies complicated by ICP managed at a referral hospital in Buenos Aires (Argentina) between June 2009 and December 2013. The patients were classified into three groups according to the severity of hypercholanemia at diagnosis; mild (10-19.9 μmol/L), moderate (20-39.9 μmol/L) and severe (≥40 μmol/L). Their clinical characteristics and pregnancy outcomes were investigated in a prospective observational study. Higher risk of MSAF was observed when ICP appeared early in gestation or when hypercholanemia was more severe. Taking both parameters into account an MSAF risk factor (MRF) was defined. Based on a model of positive/negative predictive values, a cut-off point of MRF = 3 was selected, which prioritized sensitivity versus specificity. In ICP patients with MRF>3, the probability of MSAF was enhanced 4-fold. An increase in the frequency of MSAF was also associated with higher serum levels at diagnosis of alanine transaminase, alkaline phosphatase and direct bilirubin. The risk of MSAF is associated not only with the magnitude of hypercholanemia at diagnosis but also with the early gestational onset of raised maternal serum bile acids.

  4. Improved motor development and good long-term glycaemic control with sulfonylurea treatment in a patient with the syndrome of intermediate developmental delay, early-onset generalised epilepsy and neonatal diabetes associated with the V59M mutation in the KCNJ11 gene

    NARCIS (Netherlands)

    Slingerland, A. S.; Nuboer, R.; Hadders-Algra, M.; Hattersley, A. T.; Bruining, G. J.

    2006-01-01

    Aims/hypothesis Activating mutations in the KCNJ11 gene encoding the Kir6.2 subunit of the K-ATP channels in pancreatic beta cells are a common cause of neonatal diabetes. One-third of patients also have developmental delay, which probably results from mutated K-ATP channels in muscle, nerve and bra

  5. High Throughput Sequencing of Germline and Tumor from Men With Early-Onset Metastatic Prostate Cancer

    Science.gov (United States)

    2014-10-01

    challenge, Dr. Tomlins has continued to develop state of the art technologies to use formalin-fixed paraffin-embedded (FFPE) prostate cancer specimens...men with early-onset, metastatic prostate cancer PRINCIPAL INVESTIGATOR: Kathleen A. Cooney, M.D. CONTRACTING ORGANIZATION...High-Throughput Sequencing of Germline and Tumor From Men with Early-Onset Metastatic Prostate Cancer 5b. GRANT NUMBER W81XWH-13-1-0371 5c

  6. 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.

  7. [Value of electroencephalography in the early detection of neonatal leucinosis].

    Science.gov (United States)

    Pardal-Fernandez, J M; Carrascosa-Romero, M C; Grande, A; Martinez-Gonzalez, M; Godes-Medrano, B

    2016-08-16

    Introduccion. La leucinosis es una metabolopatia neonatal grave. Es consecuencia del deficit enzimatico determinado geneticamente del complejo descarboxilasa-dihidrolipoil transacilasa y dihidrolipoil deshidrogenasa, y del acumulo consecuente de los metabolitos precursores, aminoacidos ramificados de cadena larga y sus alfa-cetoacidos. Son potentes neurotoxicos, responsables del rapido establecimiento de edema y desmielinizacion cerebral difusa. La demora en el diagnostico suele provocar graves secuelas psicomotoras o incluso la muerte. Caso clinico. Se presenta una paciente neonata con encefalopatia neonatal grave, crisis epilepticas y un electroencefalograma (EEG) con unas caracteristicas especiales que oriento el diagnostico hacia una posible leucinosis. El diagnostico temprano permitio instaurar rapidamente el tratamiento especifico y conseguir una evolucion favorable de la paciente. Conclusiones. El EEG en pacientes con sospecha de encefalopatia neonatal ofrece informacion funcional de alta rentabilidad con un bajo coste, en especial por promover diagnosticos y tratamientos tempranos. El EEG en la leucinosis presenta signos peculiares, reconocibles en periodos tempranos en la mayor parte de los afectados, como ocurrio en el caso descrito. Parece recomendable integrar el EEG en el cribado de encefalopatias neonatales por ser una tecnica diagnostica valiosa, inocua y, por lo general, accesible y especialmente de ayuda en metabolopatias tratables, como la leucinosis.

  8. 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.

  9. Early Diagnosis and Hematopoietic Stem Cell Transplantation for IL10R Deficiency Leading to Very Early-Onset Inflammatory Bowel Disease Are Essential in Familial Cases

    Science.gov (United States)

    Aksu, Guzide; Ulusoy, Ezgi; Gozmen, Salih; Genel, Ferah; Akarcan, Sanem; Gulez, Nesrin; Hirschmugl, Tatjana; Kansoy, Savas; Boztug, Kaan

    2016-01-01

    Alterations of immune homeostasis in the gut may result in development of inflammatory bowel disease. A five-month-old girl was referred for recurrent respiratory and genitourinary tract infections, sepsis in neonatal period, chronic diarrhea, perianal abscess, rectovaginal fistula, and hyperemic skin lesions. She was born to second-degree consanguineous, healthy parents. Her elder siblings were lost at 4 months of age due to sepsis and 1 year of age due to inflammatory bowel disease, respectively. Absolute neutrophil and lymphocyte counts, immunoglobulin levels, and lymphocyte subsets were normal ruling out severe congenital neutropenia and classic severe combined immunodeficiencies. Quantitative determination of oxidative burst was normal, excluding chronic granulomatous disease. Colonoscopy revealed granulation, ulceration, and pseudopolyps, compatible with colitis. Very early-onset colitis and perianal disease leading to fistula formation suggested probability of inherited deficiencies of IL-10 or IL-10 receptor. A mutation at position c.G477A in exon of the IL10RB gene, resulting in a stop codon at position p.W159X, was identified. The patient underwent myeloablative hematopoietic stem cell transplantation from full matched father at 11 months of age. Perianal lesions, chronic diarrhea, and recurrent infections resolved after transplantation. IL-10/IL-10R deficiencies must be considered in patients with early-onset enterocolitis. PMID:27699073

  10. Early Diagnosis and Hematopoietic Stem Cell Transplantation for IL10R Deficiency Leading to Very Early-Onset Inflammatory Bowel Disease Are Essential in Familial Cases

    Directory of Open Access Journals (Sweden)

    Neslihan Edeer Karaca

    2016-01-01

    Full Text Available Alterations of immune homeostasis in the gut may result in development of inflammatory bowel disease. A five-month-old girl was referred for recurrent respiratory and genitourinary tract infections, sepsis in neonatal period, chronic diarrhea, perianal abscess, rectovaginal fistula, and hyperemic skin lesions. She was born to second-degree consanguineous, healthy parents. Her elder siblings were lost at 4 months of age due to sepsis and 1 year of age due to inflammatory bowel disease, respectively. Absolute neutrophil and lymphocyte counts, immunoglobulin levels, and lymphocyte subsets were normal ruling out severe congenital neutropenia and classic severe combined immunodeficiencies. Quantitative determination of oxidative burst was normal, excluding chronic granulomatous disease. Colonoscopy revealed granulation, ulceration, and pseudopolyps, compatible with colitis. Very early-onset colitis and perianal disease leading to fistula formation suggested probability of inherited deficiencies of IL-10 or IL-10 receptor. A mutation at position c.G477A in exon of the IL10RB gene, resulting in a stop codon at position p.W159X, was identified. The patient underwent myeloablative hematopoietic stem cell transplantation from full matched father at 11 months of age. Perianal lesions, chronic diarrhea, and recurrent infections resolved after transplantation. IL-10/IL-10R deficiencies must be considered in patients with early-onset enterocolitis.

  11. 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.

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

    DEFF Research Database (Denmark)

    Clemmensen, Lars; Vernal, Ditte Lammers; Steinhausen, Hans-Christoph

    2012-01-01

    of onset in these studies was 10 years, small to moderate for more unfavourable outcomes in males, and small to large for worse outcomes in studies including patients diagnosed before 1970. CONCLUSIONS: In contrast to the adult manifestation, the early manifestation of schizophrenia in childhood......ABSTRACT: BACKGROUND: The current review analyzes the long-term outcome and prognosis of early onset schizophrenia based on previously published studies onset schizophrenia based on previously published studies in 1980. METHODS: A systematic search of articles published in the English......-language literature after 1980 identified a total of 21 studies, which included 716 patients who were either suffering from early onset schizophrenia (EOS) or both EOS and other psychotic disorders (MIX). The authors of the current review scored the outcome as either "good," "moderate," or "poor." The mean age...

  13. Risk factors for early-onset group B streptococcal sepsis: estimation of odds ratios by critical literature review.

    Science.gov (United States)

    Benitz, W E; Gould, J B; Druzin, M L

    1999-06-01

    To identify and to establish the prevalence of ORs factors associated with increased risk for early-onset group B streptococcal (EOGBS) infection in neonates. streptococcal (EOGBS) infection in neonates. Literature review and reanalysis of published data. Risk factors for EOGBS infection include group B streptococcal (GBS)-positive vaginal culture at delivery (OR: 204), GBS-positive rectovaginal culture at 28 (OR: 9.64) or 36 weeks gestation (OR: 26. 7), vaginal Strep B OIA test positive at delivery (OR: 15.4), birth weight 18 hours (OR: 7.28), intrapartum fever >37.5 degrees C (OR: 4.05), intrapartum fever, PROM, or prematurity (OR: 9.74), intrapartum fever or PROM at term (OR: 11.5), chorioamnionitis (OR: 6.43). Chorioamnionitis is reported in most (88%) cases in which neonatal infection occurred despite intrapartum maternal antibiotic therapy. ORs could not be estimated for maternal GBS bacteriuria during pregnancy, with preterm premature rupture of membranes, or with a sibling or twin with invasive GBS disease, but these findings seem to be associated with a very high risk. Multiple gestation is not an independent risk factor for GBS infection. h Mothers with GBS bacteriuria during pregnancy, with another child with GBS disease, or with chorioamnionitis should receive empirical intrapartum antibiotic treatment. Their infants should have complete diagnostic evaluations and receive empirical treatment until infection is excluded by observation and negative cultures because of their particularly high risk for EOGBS infection. Either screening with cultures at 28 weeks gestation or identification of clinical risk factors, ie, PROM, intrapartum fever, or prematurity, may identify parturients whose infants include 65% of those with EOGBS infection. Intrapartum screening using the Strep B OIA rapid test identifies more at-risk infants (75%) than any other method. These risk identifiers may permit judicious selection of patients for prophylactic interventions.

  14. 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)

  15. Late-onset neonatal sepsis in Arab states in the Gulf region: two-year prospective study.

    Science.gov (United States)

    Hammoud, Majeda S; Al-Taiar, Abdullah; Al-Abdi, Sameer Y; Bozaid, Hussain; Khan, Anwar; AlMuhairi, Laila M; Rehman, Moghis Ur

    2017-02-01

    This study aimed to investigate the incidence of late-onset sepsis (LOS) in neonatal intensive care units (NICUs) in Arab states in the Gulf region and to describe the main causative organisms and their antibiotic resistance. This observational prospective cohort study was conducted over a 2-year period in five NICUs in Kuwait, Saudi Arabia, and the United Arab Emirates. LOS was defined as the growth of a single potentially pathogenic organism from blood or cerebrospinal fluid in infants >3days of age with clinical and laboratory findings consistent with infection. Seven hundred and eighty-five cases of LOS occurred among 67 474 live births. The overall incidence of LOS was 11.63 (95% confidence interval (CI) 10.84-12.47) per 1000 live births, or 56.14 (95% CI 52.38-60.08) per 1000 admissions. Coagulase-negative staphylococci and Klebsiella spp were the most common organisms, causing 272 (34.65%) and 179 (22.80%) of LOS cases, respectively. No evidence of a seasonal variation in the incidence of Klebsiella spp or in the incidence of all Gram-negative organisms was found. More than half of the Klebsiella spp were resistant to third-generation cephalosporins. LOS poses a major burden in this area, which could be due to the increasing care of premature babies. Gram-negative organisms, particularly Klebsiella spp, are having an increasing role in LOS in this region, with high levels of resistance to third-generation cephalosporins. NICUs in the area should create a platform through which to share experience in reducing neonatal sepsis and contribute to a common antibiotic stewardship program. Copyright © 2017 The Author(s). Published by Elsevier Ltd.. All rights reserved.

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

    Science.gov (United States)

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

    2012-01-01

    Context Recent studies have shown an association between cigarettes per day (CPD) and a nonsynonymous single-nucleotide polymorphism in CHRNA5, rs16969968. Objective To determine whether the association between rs16969968 and smoking is modified by age at onset of regular smoking. Data Sources Primary data. Study Selection Available genetic studies containing measures of CPD and the genotype of rs16969968 or its proxy. Data Extraction Uniform statistical analysis scripts were run locally. Starting with 94 050 ever-smokers from 43 studies, we extracted the heavy smokers (CPD >20) and light smokers (CPD ≤10) with age-at-onset information, reducing the sample size to 33 348. Each study was stratified into early-onset smokers (age at onset ≤16 years) and late-onset smokers (age at onset >16 years), and a logistic regression of heavy vs light smoking with the rs16969968 genotype was computed for each stratum. Meta-analysis was performed within each age-at-onset stratum. Data Synthesis Individuals with 1 risk allele at rs16969968 who were early-onset smokers were significantly more likely to be heavy smokers in adulthood (odds ratio [OR]=1.45; 95% CI, 1.36–1.55; n=13 843) than were carriers of the risk allele who were late-onset smokers (OR = 1.27; 95% CI, 1.21–1.33, n = 19 505) (P = .01). Conclusion These results highlight an increased genetic vulnerability to smoking in early-onset smokers. PMID:22868939

  17. Identification of Patients at Risk for Early Onset and/or Severe Preeclampsia With the Use of Uterine Artery Doppler Velocimetry and Placental Growth Factor

    Science.gov (United States)

    Espinoza, Jimmy; Romero, Roberto; Nien, Jyh Kae; Gomez, Ricardo; Kusanovic, Juan Pedro; Gonçalves, Luis F.; Medina, Luis; Edwin, Sam; Hassan, Sonia; Carstens, Mario; Gonzalez, Rogelio

    2007-01-01

    OBJECTIVE: Preeclampsia has been proposed to be an anti-angiogenic state that may be detected by the determination of the concentrations of the soluble vascular endothelial growth factor receptor-1 (sVEGFR-1) and placental growth factor (PlGF) in maternal blood even before the clinical development of the disease. The purpose of this study was to determine the role of the combined use of uterine artery Doppler velocimetry (UADV) and maternal plasma PlGF and sVEGFR-1 concentrations in the second trimester for the identification of patients at risk for severe and/or early onset preeclampsia. STUDY DESIGN: A prospective cohort study was designed to examine the relationship between abnormal UADV and plasma concentrations of PlGF and sVEGFR-1 in 3348 pregnant women. Plasma samples were obtained between 22 and 26 weeks of gestation at the time of ultrasound examination. Abnormal UADV was defined as the presence of bilateral uterine artery notches and/or a mean pulsatility index above the 95th percentile for the gestational age. Maternal plasma PlGF and sVEGFR-1 concentrations were determined with the use of sensitive and specific immunoassays. The primary outcome was the development of early onset preeclampsia (≤34 weeks of gestation) and/or severe preeclampsia. Secondary outcomes included preeclampsia, the delivery of a small for gestational age (SGA) neonate without preeclampsia, spontaneous preterm birth at ≤32 and ≤35 weeks of gestation, and a composite of severe neonatal morbidity. Contingency tables, chi-square test, receiver operating characteristic curve, and multivariate logistic regression were used for statistical analyses. A probability value of <.05 was considered significant. RESULTS: (1) The prevalence of preeclampsia, severe preeclampsia, and early onset preeclampsia were 3.4% (113/3296), 1.0% (33/3296), and 0.8% (25/3208), respectively. UADV was performed in 95.4% (3146/3296) and maternal plasma PlGF concentrations were determined in 93.5% (3081

  18. 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…

  19. 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.

  20. 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

  1. 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.

  2. 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.

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

    Science.gov (United States)

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

    2015-11-27

    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.

  4. Early-onset gastric cancer: Learning lessons from the young

    OpenAIRE

    Milne, A. N.; Offerhaus, G J A

    2010-01-01

    There is by no means a clear-cut pattern of mutations contributing to gastric cancers, and gastric cancer research can be hampered by the diversity of factors that can induce gastric cancer, such as Helicobacter pylori infection, diet, ageing and other environmental factors. Tumours are unquestionably riddled with genetic changes yet we are faced with an unsolvable puzzle with respect to a temporal relationship. It is postulated that inherited genetic factors may be more important in early-on...

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

    NARCIS (Netherlands)

    Creemers, H.E.; Korhonen, T.; Kaprio, J; Vollebergh, W.A.M.; Ormel, J.; Verhulst, F.C.; Huizink, A.C.

    2009-01-01

    Background: While temperamental characteristics have been related to the onset of cannabis use, it is not clear at what point(s) along the trajectory from early onset of tobacco use (EOT) to early onset of cannabis use (EOC) these characteristics exert their impact. This study examined if (1) temper

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

    NARCIS (Netherlands)

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

    2009-01-01

    Background: While temperamental characteristics have been related to the onset of cannabis use, it is not clear at what point(s) along the trajectory from early onset of tobacco use (EOT) to early onset of cannabis use (EOC) these characteristics exert their impact. This study examined if (1) temper

  7. Facility-based delivery and maternal and early neonatal mortality in ...

    African Journals Online (AJOL)

    AJRH Managing Editor

    maternal mortality, and early neonatal mortality were compared across nations and regions. ... This study demonstrates the need to attend to regional differences both across and within SSA nations if facility ... approaches. .... Qualitative studies were included in .... Percent of studies that included quantitative data (N=62).

  8. Neonatal dexamethasone administration causes progressive renal damage due to induction of an early inflammatory response

    NARCIS (Netherlands)

    Liu, Yan; van Goor, Harry; Havinga, Rick; Baller, Julius F. W.; Bloks, Vincent W.; van der Leij, Feike R.; Sauer, Pieter J. J.; Kuipers, Folkert; Navis, Gerjan; de Borst, Martin H.

    2008-01-01

    Glucocorticoids (GCs) are widely used to prevent chronic lung disease in immature newborns. Emerging evidence indicates that GC exposure in early life may interfere with kidney function and is associated with hypertension in later life. In this study, we have investigated the effect of neonatal dexa

  9. 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

  10. "Social marketing" for early neonatal care: saving newborn lives in Pakistan.

    Science.gov (United States)

    Ejaz, Iram; Shaikh, Babar Tasneem

    2010-01-01

    According to the World Health Organization and the United Nations Children's Fund, developing countries carry a large share of neonatal mortality in the world. According to UNICEF, almost 450 newborn children die every hour, mostly from preventable causes. Restricted access to quality and hygienic delivery services and limited knowledge about handling the newborn aggravate the situation. South Asia, and Pakistan in particular, have reduced their child and infant mortality during the last decade; however, neonatal mortality still remains unacceptably high. There are multiple reasons, mainly related to practices and behaviours of communities and traditional birth attendants. Rural and poor populations suffer most in Pakistan, where three out of five deliveries still occur at home. Traditional community practices and conservative norms drastically affect neonatal health outcomes. Preventing sepsis at the umbilical cord, keeping the baby at the correct temperature after birth and early initiation of exclusive breastfeeding are three simple strategies or messages that need to be disseminated widely to prevent many neonatal mortalities and morbidities. Since inappropriate practices in handling newborns are directly linked with persistent and unremitting behaviours among health providers and the community at large, we suggest doing robust "social marketing" for saving newborn lives. The objective of the paper is to present a social-marketing strategy and a marketing mix that will help address and surmount actual barriers and promote alternative behaviours in early neonatal care.

  11. Comparison of early and late MRI in neonatal hypoxic-ischemic encephalopathy using three assessment methods

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    Charon, Valerie; Proisy, Maia; Bruneau, Bertrand; Treguier, Catherine; Rozel, Celine [University Hospital, Department of Imaging, Hopital Sud, Rennes, Cedex 2 (France); Ferre, Jean-Christophe [University Hospital, Department of Neuroradiology, Hopital Pontchaillou, Rennes (France); Beuchee, Alain [University Hospital, Department of Neonatology, Hopital Sud, Rennes (France); Chauvel, Jennifer [Saint Brieuc Hospital, Department of Neonatology, Saint-Brieuc (France)

    2015-12-15

    There is no consensus on the optimum timing of MRI in neonates with hypoxic-ischemic encephalopathy treated with hypothermia. Reliable early imaging assessment might help managing treatment. To assess non-random differences between early and late MRI that might influence intensive-care decisions. This single-center retrospective study included all asphyxiated term neonates eligible for hypothermia treatment November 2009-July 2012. MRI scans were systematically performed at day 4 (early MRI) and day 11 of life as part of routine protocol. Two experienced pediatric radiologists reviewed both scans according to three assessment methods: a pattern classification, a scoring system and a simplified classification. Agreement between early and late imaging findings was assessed using Cohen's kappa coefficients. Thirty-three neonates were included. Interobserver agreement was excellent. Early MRI detected all severe injuries. Agreement between early and late MRI was excellent for the simplified classification (κ = 0.82), good for the pattern classification (κ = 0.64), and good to excellent for 3 scores out of 4 in the scoring system (κ = 0.70-0.89). Early MRI may provide valuable information about brain injury to help parents and neonatologists in intensive-care decisions at the end of hypothermia treatment. (orig.)

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

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    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.

  13. Converging approaches to understanding early onset familial Alzheimer disease: A First Nation study

    Science.gov (United States)

    Cabrera, Laura Y; Beattie, B Lynn; Dwosh, Emily; Illes, Judy

    2015-01-01

    Objectives: In 2007, a novel pathogenic genetic mutation associated with early onset familial Alzheimer disease was identified in a large First Nation family living in communities across British Columbia, Canada. Building on a community-based participatory study with members of the Nation, we sought to explore the impact and interplay of medicalization with the Nation’s knowledge and approaches to wellness in relation to early onset familial Alzheimer disease. Methods: We performed a secondary content analysis of focus group discussions and interviews with 48 members of the Nation between 2012 and 2013. The analysis focused specifically on geneticization, medicalization, and traditional knowledge of early onset familial Alzheimer disease, as these themes were prominent in the primary analysis. Results: We found that while biomedical explanations of disease permeate the knowledge and understanding of early onset familial Alzheimer disease, traditional concepts about wellness are upheld simultaneously. Conclusion: The analysis brings the theoretical framework of “two-eyed seeing” to the case of early onset familial Alzheimer disease for which the contributions of different ways of knowing are embraced, and in which traditional and western ways complement each other on the path of maintaining wellness in the face of progressive neurologic disease. PMID:27092264

  14. 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; Souza, Fábio Gomes de Matos e

    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. PMID:26097750

  15. 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.

  16. Neonatal sepsis: progress towards improved outcomes.

    Science.gov (United States)

    Shane, Andi L; Stoll, Barbara J

    2014-01-01

    Neonates are predisposed to infections during the perinatal period due to multiple exposures and a relatively compromised immune system. The burden of disease attributed to neonatal infections varies by geographic region and maternal and neonatal risk factors. Worldwide, it is estimated that more than 1.4 million neonatal deaths annually are the consequence of invasive infections. Risk factors for early-onset neonatal sepsis (EOS) include prematurity, immunologic immaturity, maternal Group B streptococcal colonization, prolonged rupture of membranes, and maternal intra-amniotic infection. Intrapartum antimicrobial prophylaxis administered to GBS-colonized women has reduced the burden of disease associated with early onset GBS invasive infections. Active surveillance has identified Gram-negative pathogens as an emerging etiology of early-onset invasive infections. Late-onset neonatal sepsis (LOS) attributable to Gram-positive organisms, including coagulase negative Staphylococci and Staphylococcus aureus, is associated with increased morbidity and mortality among premature infants. Invasive candidiasis is an emerging cause of late-onset sepsis, especially among infants who receive broad spectrum antimicrobial agents. Prophylactic fluconazole administration to very low birthweight (VLBW) neonates during the first 6 weeks of life reduces invasive candidiasis in neonatal intensive care units with high rates of fungal infection. Prevention of healthcare associated infections through antimicrobial stewardship, limited steroid use, early enteral feeding, limited use of invasive devices and standardization of catheter care practices, and meticulous hand hygiene are important and cost-effective strategies for reducing the burden of late-onset neonatal sepsis. Copyright © 2013 The British Infection Association. Published by Elsevier Ltd. All rights reserved.

  17. Neonatal gram-negative bacillary late-onset sepsis: A case-control-control study on a prospectively collected database of 5,233 admissions.

    Science.gov (United States)

    Tsai, Ming-Horng; Wu, I Hsyuan; Lee, Chiang-Wen; Chu, Shih-Ming; Lien, Reyin; Huang, Hsuan-Rong; Chiang, Ming-Chou; Fu, Ren-Huei; Hsu, Jen-Fu; Huang, Yhu-Chering

    2016-02-01

    Gram-negative bacillary (GNB) bloodstream infections account for 20%-30% of neonatal late-onset sepsis (LOS). We aimed to identify the incidence, clinical characteristics, and risk factors for adverse outcomes in neonates with GNB LOS. All patients with GNB LOS admitted to the neonatal intensive care units (NICUs) of a university-affiliated teaching hospital in Taiwan from January 1, 2004-December 31, 2011, were enrolled. A case-control-control study was performed to evaluate risk factors for acquisition of neonatal GNB LOS. Of the 5,010 neonates, 290 (5.8%) had a total of 346 episodes of GNB LOS (36.7% of total LOS), with an incidence rate of 13.6 per 10,000 neonate hospital days. The overall mortality rate was 17.6% (51/290), and the sepsis attributable mortality rate was 9.8% (34/346 episodes). After multivariate logistic regression analysis, neonates with prolonged use of total parenteral nutrition (adjusted odds ratio [OR] = 1.53; 95% confidence interval [CI], 1.02-2.29; P = .041) were independently associated with acquisition of GNB LOS. The independent predictors of in-hospital mortality were Pseudomonas aeruginosa etiology (OR = 11.45; 95% CI, 2.83-46.24) and underlying secondary pulmonary hypertension (OR = 18.02; 95% CI, 3.28-98.89), renal disease (OR = 17.16; 95% CI, 2.96-99.38), and neuromuscular comorbidities (OR = 2.72; 95% CI, 1.06-7.00). Given the higher illness severity and sepsis-attributable mortality rate of neonatal GNB LOS in the NICU, strategies to reduce the incidence need to be addressed urgently. Copyright © 2016 Association for Professionals in Infection Control and Epidemiology, Inc. Published by Elsevier Inc. All rights reserved.

  18. Immature-to-total neutrophil ratio as an early diagnostic tool of bacterial neonatal sepsis

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    Darnifayanti Darnifayanti

    2015-05-01

    Full Text Available Background Bacterial sepsis is the main cause of morbidity and mortality in neonates. Early diagnosis and appropriate treatment for the condition can reduce mortality rates. Blood cultures are the gold standard to diagnose bacterial sepsis, but they require 3-5 days for results, whilst the disease may progress rapidly in neonates. Examination of immature-to-total neutrophil ratio (I/T ratio in peripheral blood smears is a quicker and less expensive method to diagnose bacterial sepsis in neonates. Some studies found the sensitivity of I/T ratio to be 88%-90% in predicting bacterial spesis.Objective To assess the usefulness of the I/T ratio as an early diagnostic tool for neonatal bacterial sepsis.Methods This cross-sectional study was conducted from February to March 2011. Subjects were collected by consecutive sampling. Fifty-three neonates suspected to have bacterial sepsis in the Perinatology Unit at H. Adam Malik Hospital were included. Subjects underwent routine blood examinations, C-reactive protein level measurements, blood cultures, and peripheral blood smears. All statistical analyses were conducted with SPSS (version 16.0 for Windows.Results Of the 53 subjects, 26 had bacterial sepsis based on blood cultures. The I/T ratio had a sensitivity of 88.46%, specificity 81.84%, positive predictive value 82.14%, and negative predictive value 88%. The receiver operating characteristic curve showed a cut-off point of 83.3 (95%CI 71.3 to 95.3%.Conclusion The I/T ratio may be a good alternative to blood cultures as an early indicator of bacterial neonatal sepsis, as it is faster, less expensive and has good sensitivity and specificity.

  19. Immature-to-total neutrophil ratio as an early diagnostic tool of bacterial neonatal sepsis

    Directory of Open Access Journals (Sweden)

    DarnifayantI

    2015-05-01

    Full Text Available Background Bacterial sepsis is the main cause of morbidity and mortality in neonates. Early diagnosis and appropriate treatment for the condition can reduce mortality rates. Blood cultures are the gold standard to diagnose bacterial sepsis, but they require 3-5 days for results, whilst the disease may progress rapidly in neonates. Examination of immature-to-total neutrophil ratio (I/T ratio in peripheral blood smears is a quicker and less expensive method to diagnose bacterial sepsis in neonates. Some studies found the sensitivity of I/T ratio to be 88%-90% in predicting bacterial spesis. Objective To assess the usefulness of the I/T ratio as an early diagnostic tool for neonatal bacterial sepsis. Methods This cross-sectional study was conducted from February to March 2011. Subjects were collected by consecutive sampling. Fifty-three neonates suspected to have bacterial sepsis in the Perinatology Unit at H. Adam Malik Hospital were included. Subjects underwent routine blood examinations, C-reactive protein level measurements, blood cultures, and peripheral blood smears. All statistical analyses were conducted with SPSS (version 16.0 for Windows. Results Of the 53 subjects, 26 had bacterial sepsis based on blood cultures. The I/T ratio had a sensitivity of 88.46%, specificity 81.84%, positive predictive value 82.14%, and negative predictive value 88%. The receiver operating characteristic curve showed a cut-off point of 83.3 (95%CI 71.3 to 95.3%. Conclusion The I/T ratio may be a good alternative to blood cultures as an early indicator of bacterial neonatal sepsis, as it is faster, less expensive and has good sensitivity and specificity. [Paediatr Indones. 2015;55:153-7.].

  20. EXPECTANT MANAGEMENT OF EARLY ONSET SEVERE PRE ECLAMPSIA: FETOMATERNAL OUTCOME: A STUDY IN A TERTIARY INSTITUTION IN NORTH KERALA

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    Rajani

    2015-05-01

    Full Text Available BACKGROUND: Preeclampsia is a major cause of maternal and perinatal mortality and morbidity worldwide and it is responsible for 14% of maternal deaths per year. The clinical course of preeclampsia is associated with progressive deterioration of foetal and maternal conditions and hence delivery is the only way of curing the disease. But delivery at an early gestation is associated with high perinatal mortality and morbidity from prematurity. Several ran domized controlled studies have shown that expectant management of women with severe preeclampsia improves neonatal outcome of the babies without compromising the maternal health much. Ours is a tertiary institution where antenatal patients with preeclamps ia is referred from five northern districts of Kerala . Hence an attempt is made to study the fetomaternal outcome of severe preeclampsia between 24 to 34 weeks when they are kept for expectant management. AIM: To evaluate the feto maternal outcome of expec tant management of early onset severe pre eclampsia between24 and 34 weeks. SETTINGS AND DESIGN : Prospective observational study for one year from January 1st 2014to December 31st 2014 , with permission from Ethics committee. METHODS AND MATERIALS: The stud y was conducted at a tertiary referral centre , The Institute of Maternal and Child Health , Government Medical College , Kozhikode. All women with singleton pregnancy presented with early onset preeclampsia ( B etween 24 and 34 weeks where mother and fetus we re otherwise stable were included in the study. Fetomaternal outcome was analyzed using appropriate statistical methods. RESULTS: A total of 209 patients with severe preeclampsia with gestational age between 24 and 34 weeks of gestation who were fit for ex pectant management were studied prospectively. Mean number of days the pregnancy was prolonged was 12 days. There was no maternal mortality. Overall perinatal survival was 45.5% and perinatal mortality rate was 52.1%. CONCLUSIONS

  1. IMPACT OF MECONIUM STAINED AMNIOTIC FLUID ON EARLY NEONATAL OUTCOME

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    Uday

    2013-11-01

    Full Text Available ABSTRACT: OBJECTIVE: To find out the incidence, neonatal outcome and associated maternal antepartum & intrapartum risk factors of meconium stained amniotic fluid (MSAF. DESIGN: Prospective St udy. SETTINGS: Neonatal Unit of Hospital and PNC Ward. SUBJECTS & METHODS: Prospective Study was conducted including 100 babies born with meconium stained amniotic fluid who are admitted in NICU and with mother in PNC ward in a period of six months (April 2012 - October 2012 excluding those who born with congenital abnormalities. Detail history of babies and mother with MSAF noted with emphasis on antepartum and intrapartum risk factors and outcome in terms of morbidity and mortality. RESULTS: Incidence of M SAF in the study was 8. 98%. Out of 100, 24 babies were admitted to NICU with most common indications being birth asphyxia (16% and Meconium Aspiration Syndrome (MAS (6%. Majority babies were delivered through thin Meconium Stained Liquor (MSL (44% fo llowed by thick (35% and moderate (21%. Total number of deaths were 9 and all these babies had thick meconium with severe birth asphyxia. Ninety one babies were born at >37 weeks of gestation and 57 had birth weight over 2. 5 Kg. Nineteen percent were no n vigorous requiring tracheal suctioning and positive pressure ventilation at birth. Common mode of delivery was emergency Cesarean in 83% patients. Common maternal and fetal risk factors were fetal distress (30% followed by Oligohydramnios (30%, Pregnan cy induced hypertension (PIH (24%, anemia (14%, severe anemia (5%, Antepartum hemorrhage (4% and Antepartum eclampsia (4%. CONCLUSIONS: Oligohydramnios, PIH, anemia and fetal distress were common antenatal and intranatal factors associated with MSAF. Major morbidity and indication for NICU admission was Birth asphyxia and non vigorous babies. Mortality rate was 9% which is commonly associated with thick meconium and severe birth asphyxia.

  2. Early clinical characteristics of neonatal purulent meningitis%新生儿化脓性脑膜炎的早期临床特征

    Institute of Scientific and Technical Information of China (English)

    刘瑛; 刁玉霞; 鞠秀明; 孙立会; 王跃刚

    2012-01-01

    目的:探讨新生儿化脓性脑膜炎的早期临床特点.方法:选择2008~2010年吉林市儿童医院NICU收治的化脓性脑膜炎患儿,回顾性分析其围生因素、发病时间、临床表现、实验室检查、治疗和预后.结果:新生儿化脓性脑膜炎9例,检出率占同期临床诊断败血症患儿的17.31%,1例早产儿生后6h发病,表现有反应差、发热、抽搐、硬肿症,1例以屏气发作起病,2例抽搐时出现呼吸停止和频繁呼吸暂停需常频通气治疗,脑脊液常规WBC 42×10(c)/L~脓细胞满视野.2例脑脊液培养阳性,9例血培养均阴性,5例患儿治疗有效,放弃治疗2例,死亡2例.结论:新生儿化脓性脑膜炎起病隐匿,病情重,病死率高,应重视早期临床表现,尽早行病原学检测,选择敏感抗生素治疗,以降低病死率.%Objective: To explore the early clinical characteristics of neonatal purulent meningitis. Methods; The neonates with purulent meningitis who were treated in NICU of the hospital from 2008 to 2010 were selected, then the perinatal factors, onset time of the disease, clinical manifestations, laboratory examination results, treatment, and prognosis were analyzed retrospectively. Results; Nine neonates were found with neonatal purulent meningitis, accounting for 17. 31% of the neonates found with sepsis, one premature infant was found with purulent meningitis at six hours after birth, the main manifestations included low response, fever, convulsion, and scleredema; one neonate was attacked as breath holding spell; two neonates were treated with mechanical ventilation because of respiratory arrest and frequent apnea during convulsion, the results of cerebrospinal fluid routine test showed that the count of white blood cells was 42 x 106/L, pus cells were filled with full field of vision; two neonates were found with positive results of cerebrospinal fluid culture, all the nine neonates were found with negative results of blood culture, five

  3. Early onset primary pulmonary cryptococcosis in a renal transplant patient

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    Tarai B

    2010-01-01

    Full Text Available We report a case of primary pulmonary cryptococcosis in a post-renal transplant patient. A 65-year-old male renal transplant patient was admitted to the hospital with a low grade fever of 1 month, radiologically mimicking tuberculosis (TB. Broncho-alveolar fluid (BAL shows capsulated yeast, and Cryptococcus neoformans was grown on culture supported by cytology and histopathological examination. Cryptococcal antigen was positive (32-fold in serum and was negative in cerebrospinal fluid (CSF. The patient was given amphotericin B and 5-flucytosine and clinical improvement was seen on a weekly follow up. The serum cryptococcal antigen test might contribute to the early detection and treatment of pulmonary cryptococcosis. The results of antifungal susceptibility were aid in selecting the drug of choice for treatment.

  4. 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.

  5. Loss of Nfkb1 leads to early onset aging.

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    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.

  6. Late-Onset Neonatal Hypocalcemia in a 9-Days-Old Baby Because of Vitamin D Deficiency and Hypoparathyroidism: A Case Report

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    I Made Arimbawa

    2016-11-01

    Full Text Available Background: Neonatal hypocalcemia is a metabolic abnormality commonly reported. Late onset hypocalcemia usually manifests after 7 days and requires a long-term therapy. Neonatal hypocalcemia due to hypoparathyroidism can manifest as life-threatening seizures or tetany. Initial management is important to prevent any complication due to this condition. However, the initial management to correct hypocalcemia with the administration of calcitriol, high dose intravenous and oral calcium may take longer to achieve because of hypoparathyroidism. Case summary: We report a case of late onset neonatal hypocalcemia in a nine-days-old baby. He was born on the 35-36 week of gestational age by Caesarean section, without asphyxia nor neonatal infection. The baby had a refractory seizure with low serum calcium and magnesium, high phosphate, normal alkaline phosphatase (ALP and low calcium creatinine urine ratio. His 25-hidroxy vitamin D (25-OHD total was as low as 12.9 ng/mL. And, he has a low level of parathyroid hormone (PTH. Adequate correction for hypocalcemia and hypomagnesemia failed to maintain calcium and magnesium to their normal value. Oral calcium gluconolactate and carbonate were added after calcitriol supplementation, but seizure still noticed. After magnesium oxide supplementation was given, another seizure had never occurred. A long-term follow-up on vitamin D and calcium level were required. Conclusion: In a hypocalcemic newborn patient, assessment of the magnesium, vitamin D, and PTH status are needed.

  7. Diagnostic delays in children with early-onset epilepsy: impact, reasons, and opportunities to improve care

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    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

  8. The role of SCL2A1 in Early Onset and Childhood Absence Epilepsies

    DEFF Research Database (Denmark)

    Brusgaard, Klaus

    Introduction: Early onset absence epilepsy (EOAE) constitutes an idiopathic generalized epilepsy syndrome with typical absences starting before the age of four years. Mutations in SLC2A1, encoding the glucose transporter of the blood-brain barrier (GLUT-1), account for approximately 10% of EOAE......>C) leading to an amino acid exchange (336Leu>Val), the family history was unremarkable. The other EOAE patient with a very early onset of a severe epilepsy phenotype and movement disorder had a base exchange at position c.1189C>T causing a stop codon (p.Q397X) in exon 9. Familial GTCS were reported in his...

  9. 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.

  10. Clinical characteristics of early- and late-onset gout: A cross-sectional observational study from a Chinese gout clinic.

    Science.gov (United States)

    Zhang, Bingqing; Fang, Weigang; Zeng, Xuejun; Zhang, Yun; Ma, Ya; Sheng, Feng; Zhang, Xinlei

    2016-11-01

    A retrospective cross-sectional study using data from an outpatient clinic in China was conducted to investigate the clinical features of early-onset gout patients.All patients diagnosed with gout were asked about clinical characteristics of their gout and comorbid diseases. Patients presenting with acute flares were asked about common triggers before the flare. "Early-onset" gout was defined as onset of gout before 40 years and "late-onset" as onset ≥40 years. Major joint involvement, flare frequency before presentation, the cumulative number of involved joints, proportions of tophi complications at presentation, flare triggers, as well as any metabolic, cardiovascular, cerebrovascular, and renal comorbidities, were compared between the 2 groups.A total of 778 gout patients were enrolled in this study, including 449 (57.7%) in the early-onset group and 329 (42.3%) in the late-onset group. Compared with the late-onset gout patients, the early-onset gout patients had a higher proportion of ankle/mid-foot involvement (62.8% vs 48.2%, P gout patients had fewer metabolic, cardiovascular, cerebrovascular, or renal complications.Early- and late-onset gout patients had different clinical features. Early-onset seems to be influenced more by lifestyle, while late-onset patients have more complications because of comorbidities.

  11. Monitoring neonates for ototoxicity.

    Science.gov (United States)

    Garinis, Angela C; Kemph, Alison; Tharpe, Anne Marie; Weitkamp, Joern-Hendrik; McEvoy, Cynthia; Steyger, Peter S

    2017-06-22

    Neonates admitted to the neonatal intensive care unit (NICU) are at greater risk of permanent hearing loss compared to infants in well mother and baby units. Several factors have been associated with this increased prevalence of hearing loss, including congenital infections (e.g. cytomegalovirus or syphilis), ototoxic drugs (such as aminoglycoside or glycopeptide antibiotics), low birth weight, hypoxia and length of stay. The aetiology of this increased prevalence of hearing loss remains poorly understood. Here we review current practice and discuss the feasibility of designing improved ototoxicity screening and monitoring protocols to better identify acquired, drug-induced hearing loss in NICU neonates. A review of published literature. We conclude that current audiological screening or monitoring protocols for neonates are not designed to adequately detect early onset of ototoxicity. This paper offers a detailed review of evidence-based research, and offers recommendations for developing and implementing an ototoxicity monitoring protocol for young infants, before and after discharge from the hospital.

  12. Interleukin-6: A Sensitive Parameter for the Early Detection of Neonatal Sepsis

    Directory of Open Access Journals (Sweden)

    M Khaled Noor

    2009-11-01

    Full Text Available Background: Neonatal sepsis is a major cause of neonatal mortality and morbidity throughout the world. Though blood culture is the gold standard and has higher sensitivity and specificity over the hematological value and cytokine, it is not available in our community health situation and also in most of health care facilities. It is also time consuming. Therefore hematological value and interleukin-6 can be evaluated for the early diagnosis of neonatal bacterial infection. Objective: This study was conducted to see the usefulness of IL-6 as an early marker of neonatal sepsis and also to compare the sensitivity in comparison with CRP, hematological value and blood culture. Study Design: It was a quasy experimental study. Setting: This study was carried out in the neonatal unit of pediatric department, BSMMU during the period of September, 2005 to February, 2006. Method: Forty five suspected septic cases were enrolled in the study and thirty healthy newborn were taken for comparison. Venous blood sample from peripheral vein was collected on the 1st day of symptoms and/or 1st day of admission and was sent for IL-6 estimation within half an hour and estimation of IL-6 was done by using immunolyte DPC USA which employed automated chemiluminescent immunoassays. Results: Out of forty five cases of suspected-neonatal sepsis, IL-6 were positive in twenty five cases. In culture proven sepsis 100% cases had raised IL-6. In control group only five babies had raised IL-6. Three cases were culture positive, of which all were also positive for IL-6 (100%. Among the cases twenty six were CRP positive, of which twenty were also positive for IL-6 (76.92%. Conclusion: In the present study IL-6 was found to be an early marker of neonatal infection. Sensitivity was more than CRP and other hematological parameter in the first twenty four hours. Key words: Interleukin-6, Neonatal Sepsis.DOI: 10.3329/bsmmuj.v1i1.3687 BSMMU J 2008; 1(1: 1-5

  13. C-Reactive Protein (CRP in Early Diagnosis of Neonatal Septicemia

    Directory of Open Access Journals (Sweden)

    Setal B Chauhan

    2012-06-01

    Full Text Available Aim: Early diagnosis of sepsis in the neonate is often difficult because symptoms and signs are usually non-specific. A study was conducted to evaluate C-reactive protein (CRP as a screening tool for neonatal sepsis. Method: The prospective observational study was conducted at NICU, V. S. Hospital, Ahmedabad from January 2008 to June 2009. 75 neonates were included with the age group of first 28days (4week of life (infant age in study, all of which were suspected to have sepsis in clinical settings. All peripheral smear of neonate stained with Giemsa stain were reviewed .CRP performed by semi quantitative latex agglutination method. Positive cultures were the “gold standard” against which the performance of CRP , abnormal white blood cell counts (WBC & absolute neutrophil counts (ANC were compared. Results: Among 75 septic screens, 39 (52% patients had positive cultures. The sensitivity and specificity of CRP 0.6 mg/dL was 92.30% and 85.71% respectively. Abnormal platelet count had the lowest specificity(45% and sensitivity(23.07% among them. Conclusion: CRP assay using semi quantitative latex agglutination method is a valuable adjunct in screening for neonatal sepsis, complementing clinical decision-making. [National J of Med Res 2012; 2(3.000: 276-278

  14. Early maturation of evoked otoacoustic emissions and medial olivocochlear reflex in preterm neonates.

    Science.gov (United States)

    Chabert, René; Guitton, Matthieu J; Amram, Daniel; Uziel, Alain; Pujol, Rémy; Lallemant, Jean-Gabriel; Puel, Jean-Luc

    2006-02-01

    The present study was designed to investigate the early maturation of the brainstem regulation of the cochlear function in preterm neonates. Evoked otoacoustic emissions (EOAE) and their regulation via the medial olivocochlear efferent (MOC) reflex were investigated in a large population of preterm neonates and compared with full-term neonates and young babies from birth to 4 y and school-aged children. In 28-wk preterm neonates, EOAE were seen in the mid-frequency range. These responses extended both to the low (down to 1025 Hz) and high (up to 6152 Hz) frequency ranges at 38 wk of gestational age and remained stable up to 4 mo. At this stage, the amplitude of EOAE overlapped adult values. EOAE amplitudes then decreased to reach adult values at 3 y of age. Maturation of MOC efferents innervating the outer hair cells was investigated by studying the suppressive effect of contralateral sound on the EOAE amplitudes (MOC reflex). The first MOC responses were recorded in preterm neonates of 32-33 wk of gestational age, reaching adult-like values at 37 wk of gestational age. The maximum effect of MOC efferent activation occurred between 2000 and 4000 Hz. These results suggest that, in humans, MOC efferents mature in utero. Thus, testing the MOC reflex may have a clinical relevance to detect an abnormal development of the auditory pathways, particularly of a brainstem circuitry not explored through conventional testing.

  15. Perbedaan Berat Lahir Bayi Pasien Preeklampsia Berat / Eklampsia Early dan Late Onset di RSUP Dr. M. Djamil Padang

    Directory of Open Access Journals (Sweden)

    Rizka Amelia

    2016-01-01

    Full Text Available AbstrakPreeklampsia dan eklampsia tidak hanya berdampak bagi ibu, tetapi juga terhadap janin yang dikandungnya, seperti hambatan pertumbuhan janin intrauterin yang dapat dilihat dari berat lahir bayi tersebut. Ibu dengan preeklampsia berat/ eklampsia early onset cenderung melahirkan bayi dengan berat lahir Kecil untuk Masa Kehamilan (KMK, sementara yang  late onset cenderung melahirkan bayi dengan berat lahir Sesuai untuk Masa Kehamilan (SMK atau bahkan Besar untuk Masa Kehamilan (BMK. Tujuannya penelitian ini adalah menentukan perbedaan berat lahir bayi pasien preeklampsia berat/ eklampsia early dan late onset. Penelitian ini dilaksanakan dari Oktober 2012 sampai Juli 2013 di bagian Rekam Medik RSUP Dr. M. Djamil Padang. Jenis penelitian yang digunakan adalah observasional analitik dengan desain cross sectional. Hasil penelitian menunjukkan bahwa angka kejadian preeklampsia berat/ eklampsia early onset adalah 26,1% dan yang late onset sebanyak 73,9%. Bayi KMK lebih banyak dilahirkan oleh ibu preeklampsia berat/ eklampsia early onset (16,67% dibandingkan dengan yang  late onset (7,35%. Setelah dilakukan analisis melalui uji chi-square, disimpulkan bahwa tidak ada perbedaan berat lahir bayi antara pasien preeklampsia berat/eklampsia early dan late onset secara signifikan (p>0,05.Kata kunci: preeklampsia berat/eklampsia early onset, preeklampsia berat/eklampsia late onset, berat lahir bayi AbstractPreeclampsia and eclampsia are not only effect to mother, but also influent to the fetus, such as intrauterine fetal growth retardation  which can be seen as baby's birth weight. Mothers with early onset severe preeclampsia / eclampsia tend to give birth small for gestational age  babies, while the late onset tend to give birth normal birth weight or large for gestational age babies. The objective of this study was to determine the differentiation between baby's birth weight of early and late onset severe preeclampsia/ eclampsia. The research was

  16. 早发型重度子痫前期孕妇分娩结局分析%Early Onset of Severe Preeclampsia Childbirth Outcome Analysis

    Institute of Scientific and Technical Information of China (English)

    李会琴; 范静

    2013-01-01

    Objective:To analyze different gestational weeks the onset of early onset severe preeclampsia childbirth outcome. Methods:Early onset severe preeclampsia in 86 cases, according to the onset of gestational weeks were divided into group A ( gestational age0.05 );three groups of neonatal asphyxia rate, perinatal mortality significantly with gestational age, decreased ( P0.05);三组新生儿窒息率、围产儿死亡率有明显差异,随着孕周延长而下降(P<0.05);剖宫率随着孕周延长增加,三组有明显差异(P<0.05)。结论:早发型重度子痫前期孕妇妊娠结局与发病时孕周有着密切关系,发生时间越早结局越差,通过适当的期待治疗并延长孕周对改善母儿结局有着较好的效果,剖宫产明显降低母儿并发症发生。

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

    Science.gov (United States)

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

    2006-09-01

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

  18. Problems of the neonates with congenital heart disease requiring early interventions: a regional report

    Science.gov (United States)

    Çelik, Muhittin; Aldudak, Bedri; Akar, Melek; Akdeniz, Osman; Tüzün, Heybet; Çelebi, Vefik

    2015-01-01

    Aim: In this study, it was aimed to determine the problems of the neonates who were diagnosed with congenital heart disease requiring early intervention in our hospital. Material and Methods: The files of the newborn babies with congenital heart disease requiring early intervention who were admitted to the neonatal intensive care unit of our hospital between January 2011 and January 2013 were evaluated retrospectively. In all cases, echocardiography and ‘’Score for Neonatal Acute Physiology-II” (SNAP-II) scoring were performed within the first day of admission. The data were interpreted using Number Cruncher Statistical System 2007 software. The statistical significance was set at palprostadil and age were not related to mortality. Three patients were discharged following planning of elective surgery and 60 patients were referred to a tertiary center by air ambulance. Conclusions: The results of our study indicated that prenatal diagnosis could not be made in neonates with congenital heart disease requiring intervention in our region. The mortality rates of these patients were related to the severity of the clinical status at presentation rather than to the age, gender and type of congenital heart disease. The mortality was much higher in the patients who developed circulatory failure. Most of the patients who survived were sent by air ambulance to the centers where the intervention was to be performed. PMID:26568691

  19. Early neonatal hyperkalaemia in the extremely premature newborn infant.

    Science.gov (United States)

    Leslie, G I; Carman, G; Arnold, J D

    1990-02-01

    The incidence of hyperkalaemia in 43 consecutive infants born at less than 28 weeks gestation and cared for in our neonatal intensive care unit was documented. Plasma K levels were related to indices of renal function as well as to the degree of illness in the infants. The mean gestational age was 26.0 weeks (range 24-27 weeks) and the mean birthweight was 815 g (range 395-1170 g). Twenty-six of the infants (60%) had at least one plasma K greater than 5.5 mmol/L and 13 (30%) had a maximum plasma K greater than 7 mmol/L. The mean postnatal age at which the plasma K exceeded 7 mmol/L was 25 h (range 10-39 h). Five infants with plasma K greater than 7 mmol/L developed cardiac arrhythmias and four died of this complication. Only one infant had a large intraventricular haemorrhage. Only two of 16 infants with an initial plasma K less than 5 mmol/L had a maximum plasma K greater than 7 mmol/L, compared with eight of 10 with an initial plasma K greater than 6 mmol/L (P less than 0.005). Plasma K also correlated directly with plasma urea (P less than 0.001) and plasma creatinine (P less than 0.025), and inversely with urine volume (P less than 0.05). Plasma K did not correlate with K intake, arterial pH, presence of asphyxia, severity of respiratory illness, gestation or birthweight. The rapidity with which the plasma K concentration reached potentially hazardous levels in some infants makes it imperative to measure plasma K within 6 h of birth and to continue to monitor levels at least every 6 h for the first 48 h in all infants born at less than 28 weeks gestation.

  20. Profile of newborns undergoing early stimulation in a neonatal intensive care unit

    Directory of Open Access Journals (Sweden)

    Karla Camila Lima de Souza

    2014-09-01

    Full Text Available Objective: To describe the profile of newborns undergoing early stimulation in a neonatal intensive care unit, characterizing the study population according to their neonatal variables and risk factors indicative for the early stimulation treatment. Methods: Cross-sectional and analytical study, held in a reference hospital of Fortaleza, in the period from February to March 2011, with sample consisting of 116 medical records of newborns indicated for the early stimulation treatment. The following variables were analyzed: weight, sex, gestational age, Apgar score, diagnosis of Respiratory Distress Syndrome and Intracranial Hemorrhage, use of mechanical ventilation and continuous positive airway pressure (CPAP. The variables were analyzed using Microsoft Excel™ 2007 software to obtain mean and mode. Results: Among the studied variables, there was a prevalence of low birth weight, prematurity and male newborns. According to the Apgar score, scores of 1st and 5th minutes showed increasing values. Regarding the studied pathologies, the Respiratory Distress Syndrome stands out as the most prevalent, followed by Intracranial Hemorrhage. Concerning the use of mechanical ventilation, CPAP was the most frequently indicated modality, followed by mechanical ventilation. Conclusion: The profile of newborns investigated in this study, which underwent early stimulation in a neonatal intensive care, is represented by male, premature, low weight and high rate of Apgar score at 1st and 5th minutes, with prevalence of respiratory distressand increased use of CPAP. doi:http://dx.doi.org/10.5020/18061230.2013.p523

  1. Vomiting, abdominal distention and early feeding of banana (Musa paradisiaca) in neonates.

    Science.gov (United States)

    Wiryo, Hananto; Hakimi, M; Wahab, A Samik; Soeparto, Pitono

    2003-09-01

    The objective of this cohort study was to assess the relationship between banana given as early solid food with the symptoms of intestinal obstruction (SIO) among neonates, in a rural community in West Lombok District, West Nusa Tenggara Province, Indonesia. Mothers having newborn infants were interviewed and 3,420 neonates were followed for 28 days. Compared with infants who were not given solid food, the relative risk (RR) for infants given food other than banana as early solid food was 1.87, 95% CI 0.48-8.24, p=0.4, while for infants given banana only as early solid food the RR was 9.15, 95% CI 1.96-42.58, p 0.0005. After adjustment for birthweight, colostrum, and breastfeeding, the odds ratio for infants given banana and the appearance of SIO was 2.99, 95% CI 2.65-5.14; p=0.0012. These data indicate that banana given as early solid food is an important risk factor for the appearance of SIO in neonates.

  2. Candidate colorectal cancer predisposing gene variants in Chinese early-onset and familial cases

    NARCIS (Netherlands)

    Zhang, J.X.; Fu, L.; Voer, R.M. de; Hahn, M.M.; Jin, P.; Lv, C.X.; Verwiel, E.T.; Ligtenberg, M.J.L.; Hoogerbrugge, N.; Kuiper, R.P.; Sheng, J.Q.; Geurts van Kessel, A.H.M.

    2015-01-01

    AIM: To investigate whether whole-exome sequencing may serve as an efficient method to identify known or novel colorectal cancer (CRC) predisposing genes in early-onset or familial CRC cases. METHODS: We performed whole-exome sequencing in 23 Chinese patients from 21 families with non-polyposis CRC

  3. Genetic correlates of early accelerated infant growth associated with juvenile-onset type 1 diabetes

    NARCIS (Netherlands)

    Kharagjitsingh, A.V.; de Ridder, M.A.J.; Alizadeh, B.Z.; Veeze, H.J.; Bruining, G.J.; Roep, B.O.; Koeleman, Bobby P.C.

    2012-01-01

    Objective: We previously showed that accelerated growth predisposing to development of childhood-onset type 1 diabetes (T1D) is restricted to the first year after birth. We assessed whether this phenomenon of increased early growth is associated with variants of two genes, insulin-like growth factor

  4. Assessing early-onset hallucinations in the touch-screen generation.

    Science.gov (United States)

    Demeulemeester, Morgane; Kochman, Fréderic; Fligans, Benjamin; Tabet, Ahmed J; Thomas, Pierre; Jardri, Renaud

    2015-03-01

    The increasing development of apps for digital devices provides an opportunity for new instruments to assess hallucinations in young individuals. Here we present the Multisensory HAllucinations Scale for Children (MHASC), dedicated to assessing complex early-onset hallucinations. The MHASC will soon be translated into multilanguage versions with the support of the International Consortium of Hallucination Research. Royal College of Psychiatrists.

  5. 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

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

    Science.gov (United States)

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

    2011-01-01

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

  7. Early-onset gastric cancers have a different molecular expression profile than conventional gastric cancers

    NARCIS (Netherlands)

    A.N.A. Milne; R. Carvalho; F.M. Morsink; A.R. Musler; W.W.J. de Leng; A. Ristimaki; G.J.A. Offerhaus

    2006-01-01

    Many studies examine the molecular genetics of gastric cancer, but few look at young patients in particular and there is no comparison of molecular expression between early-onset gastric cancer (<= 45 years old) and conventional gastric cancers. Expression of cycloxygenase-2 (COX-2) is elevated in g

  8. 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...

  9. 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…

  10. Apolipoprotein E genotype and association between smoking and early onset Alzheimer's disease.

    NARCIS (Netherlands)

    C.M. van Duijn (Cock); P. de Knijff (Peter); M. Cruts (Marc); A. Wehnert (Anita); L.M. Havekes; C. van Broeckhoven (Christine); A. Hofman (Albert)

    1995-01-01

    textabstractOBJECTIVE--To investigate the hypothesis that differential survival between smokers and non-smokers leading to a decrease in the frequency of the e4 allele of the apolipoprotein E gene may explain the inverse relation between smoking history and early onset Alzheimer's disease. DESIGN--A

  11. Clinical features and mortality in patients with early-onset Alzheimer's disease.

    NARCIS (Netherlands)

    W.N. Samson; C.M. van Duijn (Cock); W.C.J. Hop (Wim); A. Hofman (Albert)

    1996-01-01

    textabstractIn a population-based study of 198 patients with probable early-onset Alzheimer's disease (AD), we studied the occurrence of extrapyramidal signs (tremors and rigidity), myoclonus, psychosis and seizures, as well as their predictive value for mortality. The presence of tremors was signif

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

    Science.gov (United States)

    Unsworth, Sharon

    2013-01-01

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

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

    Science.gov (United States)

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

    2009-01-30

    Torsion dystonia is an autosomal dominant movement disorder characterized by involuntary, repetitive muscle contractions and twisted postures. The most severe early onset form of dystonia has been linked to mutations in the human DYT1 (TOR1A) gene encoding a protein termed torsinA. Moreover, dystonia and Parkinson disease share the common feature of reduced dopamine neurotransmission in the striatum, so we assumed that mutations in the DYT1 gene might have the same role in cases of early onset primary torsion dystonia (EOPTD) and early onset Parkinson disease (EOPD) that present dystonia. In this present study, 17 patients with EOPTD, 221 patients with EOPD and 164 control subjects were screened for mutations of the DYT1 gene by denaturing high performance liquid chromatography (DHPLC), polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis and DNA sequencing. Our results showed that the GAG deletion was identified in 7 EOPTD patients, which results in Glu302del of DYT1 gene. No mutations were found in EOPD patients and control subjects. By carefully reviewing the available literature on studies of sporadic, non-Ashkenazi Jewish populations, the results showed that the prevalence rate of DYT1 mutation was not significantly different (p=0.267) between European (27.3%) and Asian (22.2%) patients with early onset primary torsion dystonia.

  14. 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

  15. 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,

  16. 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

  17. 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

  18. 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),…

  19. Genetic correlates of early accelerated infant growth associated with juvenile-onset type 1 diabetes

    NARCIS (Netherlands)

    Kharagjitsingh, Av; de Ridder, Maj; Alizadeh, Bz; Veeze, Hj; Bruining, Gj; Roep, Bo; Koeleman, Bobby Pc

    2012-01-01

    OBJECTIVE: We previously showed that accelerated growth predisposing to development of childhood-onset type 1 diabetes (T1D) is restricted to the first year after birth. We assessed whether this phenomenon of increased early growth is associated with variants of two genes, insulin-like growth factor

  20. 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…

  1. Guiding of serum procalcitonin-guided antibiotic in elderly early-onset stroke-associated pneumonia

    Institute of Scientific and Technical Information of China (English)

    龙威

    2013-01-01

    Objective To evaluate the effects of serum procalcitonin (PCT) -guided antibiotic therapy in elderly patients with early-onset stroke-associated pneumonia (EOP) .Methods Totally 179 eligible elderly patients with EOP were randomly devided into 2 groups:standard therapy

  2. Developmental Trends and L1 Effects in Early L2 Learners' Onset Cluster Production

    Science.gov (United States)

    Tessier, Anne-Michelle; Duncan, Tamara Sorenson; Paradis, Johanne

    2013-01-01

    This study focuses on English onset cluster production in spontaneous speech samples of 10 children aged 5;04-6;09 from Chinese and Hindi/Punjabi first language (L1) backgrounds, each with less than a year of exposure to English. The results suggest commonalities between early second language (L2) learners and both monolingual and adult L2…

  3. 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...

  4. The nigrostriatal dopaminergic system in familial early onset parkinsonism with parkin mutations

    NARCIS (Netherlands)

    Portman, AT; Giladi, N; Leenders, KL; Maguire, P; Veenma-van der Duin, L; Swart, J; Pruim, J; Simon, ES; Hassin-Baer, S; Korczyn, AD

    2001-01-01

    Nigrostriatal dopaminergic function and cerebral energy metabolism were measured with PET in two brothers with early-onset parkinsonism caused by mutation of the parkin gene. Energy metabolism did not differ, but the nigrostriatal dopaminergic pattern was clearly different than that of sporadic PD.

  5. Early onset vulvar Lichen Sclerosus in premenopausal women and oral contraceptives.

    Science.gov (United States)

    Günthert, Andreas R; Faber, Melanie; Knappe, Gabriele; Hellriegel, Simin; Emons, Günter

    2008-03-01

    For vulvar Lichen sclerosus (LS) immunological factors, genetic predisposition, and decreased 5 alpha-reductase activity have been discussed as aetiological factors. During the last decade an increase of LS in young women has been suspected. Aim of this study was to evaluate data of premenopausal women with early onset LS to find potential risk factors focussing on the use of oral contraceptives. We retrospectively analyzed the data of 40 premenopausal patients with early onset LS regarding use of oral contraceptives (OCPs), and first occurrence of LS. To compare these data in a case-control study we analyzed a matched control group of 110 healthy women. All our LS patients were using OCPs compared to 73 women (66.4%) in the control group. OCPs with anti-androgenic activity (chlormadinone acetate, cyproterone acetate, dienogest, and drospirenone) were used by 28 (70%) of the LS patients and by 35 (47.9%) of the 73 women using OCPs in the control group. Thus, the odds ratio for early onset LS for women using anti-androgenic OCPs was 2.53 (95% CI: 1.12-5.75). Our data suggest that disturbance of the androgen dependent growth of the vulvar skin by OCPs and especially by OCPs with anti-androgenic properties might trigger the early onset of LS in a subgroup of susceptible young women.

  6. 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.

    2015-01-01

    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

  7. 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

    2016-01-01

    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 c

  8. 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

  9. 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

  10. 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),…

  11. 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 hypotonia

  12. 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

  13. 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, includ

  14. The effect of exposure to hypergravity on pregnant rat dams, pregnancy outcome and early neonatal development

    Science.gov (United States)

    Ladd, B.; Nguon, K.; Sajdel-Sulkowska, E. M.

    2006-01-01

    We previously reported that hypergravity exposure affects food intake and mass gain during pregnancy. In the present study, we explored the hypothesis that changes in maternal body mass in hypergravity-exposed pregnant rat dams affect pregnancy outcome and early offspring development. Furthermore, we hypothesized that the changes observed at 1.5G will be magnified at higher gravity and by exposure during critical developmental periods. To test this hypothesis, we compared maternal body mass gain, food consumption, birth outcome and early offspring development between Sprague Dawley rat dams exposed to graded (1.5 1.75G) chronic hypergravity (HG) or rotation (rotational control, RC) on a 24-ft centrifuge for 22.5 h starting on gestational day (G) 10 with dams housed under identical conditions but not exposed to hypergravity (SC). We also compared maternal body mass, food consumption, birth outcome and early offspring development between rat dams exposed to 1.65G during different stages of pregnancy and nursing. Exposure to hypergravity resulted in transient loss in body mass and prolonged decrease in food consumption in HG dams, but the changes observed at 1.5G were not magnified at 1.65G or 1.75G. On the other hand RC dams gained more mass and consumed more food than SC dams. Exposure to hypergravity also affected pregnancy outcome as evidenced by decreased litter size, lowered neonatal mass at birth, and higher neonatal mortality; pregnancy outcome was not affected in RC dams. Neonatal changes evidenced by impaired righting response observed at 1.5G was magnified at higher gravity and was dependent on the period of hypergravity exposure. On the other hand, righting response was improved in RC neonates. Hypergravity exposure during early postpartum affected the food consumption of nursing mothers and affected early survival of their offspring. The changes observed in dams and neonates appear to be due to hypergravity exposure since animals exposed to the rotation

  15. Early application of nerve growth factor affects serum inflammatory cytokine levels in neonatal hypoxic ischemic encephalopathy

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

    BACKGROUND: It has been demonstrated that there are changes of various cytokines, chemokines and adhesion factors in neonatal hypoxic ischemic encephalopathy (HIE). What are the changes of interleukin-6 and interleukin-18 in serum of HIE neonates.OBJECTIVE: To observe the dynamic changes of interleukin-6 and interleukin-18 in peripheral serum at different time after HIE in neonates, and analyze the possible therapeutic efficacy of early application of NGF.DESIGN: A non-randomized controlled observation synchronically.SETTING: Department of Neonatology, Sun Yat-sen Hospital affiliated to Sun Yat-sen University.PARTICIPANTS: Sixty neonates with HIE were selected from the Department of Neonatology, Sun Yat-sen Hospital affiliated to Sun Yat-sen University from January 2004 to October 2006, including 32 boys and 28 girls, who were all accorded with the diagnostic standards for moderate to severe HIE. The neonates were divided into two groups NGF-treated group (n =30), HIE group (n =30). The HIE neonates in the NGF-treated group were given routine treatment and intramuscular injection of NGF within 24 hours after birth. Those in the HIE group were given routine treatments. Meanwhile, 30 apneic normal neonates (17 boys and 13 girls) at the same period were selected as the control group. The gestational age was 37 - 42 weeks in all the three groups, the body mass at birth was 2 500 - 4 000 g. Informed contents were obtained from the relatives of all the enrolled neonates.METHODS: The HIE neonates in the NGF-treated group were given routine treatment and intramuscular injection of NGF (2 000 U) within 24 hours after birth, once a day, 10 days as a course. Those in the HIE group were given routine treatments. Blood samples (3 mL) were drawn from femoral vein in all the neonates 1, 3 and 7 days after birth. The levels of interleukin-6 and interleukin-18 in serum were detected with enzyme-linked immunoabsorbent assay (ELISA).MAIN OUTCOME MEASURES: Serum levels of interlenkin

  16. Linear undisplaced fracture of temporoparietal bone acting as spontaneous early decompressive craniotomy in a neonate

    Directory of Open Access Journals (Sweden)

    Siddharth Vankipuram

    2015-01-01

    Full Text Available Decompressive craniotomy (DC is used to treat intracranial hypertension associated with traumatic brain injury. Early DC is associated with better outcomes. We present a neonate with a history of fall with computed tomography scan showing a large frontoparietal contusion and associated parietal and temporal bone fracture. This acted as a spontaneous DC causing bony segment to separate due to which the edematous brain could be accommodated. Despite the presence of a large contusion, the child was neurologically intact and medically managed. The neonate presented with a posttraumatic leptomeningeal cyst 2 months later, which had to be repaired surgically. We discuss how a linear undisplaced fracture acts as spontaneous DC and the role of early DC in improving outcomes.

  17. Initiating Characteristics of Early-onset Type 2 Diabetes Mellitus in Chinese Patients

    Institute of Scientific and Technical Information of China (English)

    Hui Yu; Li-Fang Xie; Kang Chen; Gang-Yi Yang; Xiao-Yan Xing; Jia-Jun Zhao; Tian-Pei Hong

    2016-01-01

    Background:Type 2 diabetes mellitus (T2DM) has traditionally been considered to affect mainly the elderly;however,the age at diagnosis has gradually reduced in recent years.Although the incidence of young-onset T2DM is increasing,it is still not fully clear the onset characteristics and risk factors of early-onset T2DM.The aim of this study was to describe the initiating characteristics of early-onset T2DM in Chinese patients and evaluate the risk factors for diabetes mellitus.Methods:This cross-sectional controlled study was performed using a questionnaire survey method in outpatients of multiple centers in China.A total of 1545 patients with T2DM with an age at onset of<40 years were included,and the control group consisted of subjects aged <40 years with normal blood glucose level.Results:In patients with young-onset T2DM,the mean age and initial hemoglobin 1Ac at diagnosis were 32.96 ± 5.40 years and 9.59 ± 2.71%,respectively.Most of the patients were obese,followed irregular diet pattern and sedentary lifestyle,had life or work pressure,and had a family history of diabetes mellitus.Compared with subjects with normal blood glucose level,logistic regression analysis showed that waist-to-hip ratio (odds ratio [OR] 446.99,95% confidence interval [CI] 42.37-4714.87),family history of diabetes mellitus (OR 23.46,CI14.47-38.03),dyslipidemia (OR 2.65,CI 1.54-4.56),diastolic blood pressure (OR 1.02,CI 1.00-1.04),and body mass index (OR 0.95,CI 0.92-0.99) are independent factors for early-onset T2DM.Conclusions:We observed that abdominal obesity,family history of diabetes mellitus,and medical history of hypertension and dyslipidemia are independent risk factors for early-onset T2DM.It is,therefore,necessary to apply early lifestyle intervention in young people with risk of diabetes mellitus.

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

    Directory of Open Access Journals (Sweden)

    Hooghiemstra Astrid M

    2012-08-01

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

  19. Early feeding and neonatal hypoglycemia in infants of diabetic mothers

    Directory of Open Access Journals (Sweden)

    Leandro Cordero

    2013-12-01

    Full Text Available Objectives: To examine the effects of early formula feeding or breast-feeding on hypoglycemia in infants born to 303 A1-A2 and 88 Class B-RF diabetics. Methods: Infants with hypoglycemia (blood glucose < 40 mg/dL were breast-fed or formula-fed, and those with recurrences were given intravenous dextrose. Results: Of 293 infants admitted to the well-baby nursery, 87 (30% had hypoglycemia, corrected by early feeding in 75 (86%, while 12 (14% required intravenous dextrose. In all, 98 infants were admitted to the newborn intensive care unit for respiratory distress (40%, prematurity (33% or prevention of hypoglycemia (27%. Although all newborn intensive care unit patients received intravenous dextrose, 22 (22% had hypoglycemia. Of 109 hypoglycemia episodes, 89 (82% were single low occurrences. At discharge, 56% of well-baby nursery and 43% of newborn intensive care unit infants initiated breast-feeding. Conclusions: Hypoglycemia among infants of diabetic mothers can be corrected by early breast-feeding or formula feeding.

  20. Valor predictivo de algunos exámenes de laboratorio clínico en la infección neonatal bacteriana precoz Prognostic value of some clinical laboratory examinations related to an early bacterial neonatal infection

    Directory of Open Access Journals (Sweden)

    Tania Roig Álvarez

    2009-06-01

    Full Text Available INTRODUCCIÓN. El diagnóstico microbiológico de la infección neonatal de inicio precoz es complejo. En la mayoría de los recién nacidos se inicia el tratamiento ante la sospecha clínica y la positividad de algunos reactantes de fase aguda y el hemograma. MÉTODOS. Se analizó el valor predictivo utilizando como método de referencia el hemocultivo periférico o el hallazgo anatomopatológico de infección de algunos exámenes de laboratorio clínico de forma aislada. El estudio se realizó en el total de los casos, 32 neonatos con infección de inicio precoz probada y probable, y por localización de la infección. RESULTADOS. Ni la proteína C-reactiva positiva ni las alteraciones de los leucocitos totales fueron buenos predictores de sepsis de inicio precoz de cualquier localización. La trombocitopenia impresionó ser un marcador competente pero no resultó así al calcular el intervalo de confianza al 95 %. Al excluir la localización pulmonar, la proteína C-reactiva positiva se convirtió en un marcador competente. Ninguno de los neonatos con infección pulmonar probada tuvo resultados positivos en los exámenes clínicos realizados. CONCLUSIONES. No se cuenta de momento con ninguna prueba de laboratorio clínico capaz de predecir con certeza la presencia de infección de inicio precoz de cualquier localización. La proteína C-reactiva cualitativa es un marcador competente de infección precoz del torrente sanguíneo y de meninges en los neonatos.INTRODUCTION: Microbiological diagnosis of neonatal infection of early onset is complex. In most of newborns diagnosis is started if there is a clinical suspicion and the positivity of some acute-phase reactants and the hemogran. METHODS: Prognostic value was analyzed using as reference method the peripheral hemoculture or the pathological anatomy findings of infection in some of clinical laboratory examinations in an isolated way. Study was performed in all the cases, in 32 neonates

  1. 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.

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

    Science.gov (United States)

    Liao, Yi-Chu; Liu, Yo-Tsen; Tsai, Pei-Chien; Chang, Chia-Ching; Huang, Yen-Hua; Soong, Bing-Wen; Lee, Yi-Chung

    2015-01-01

    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.

  3. Premorbid risk factors for major depressive disorder: are they associated with early onset and recurrent course?

    Science.gov (United States)

    Wilson, Sylia; Vaidyanathan, Uma; Miller, Michael B; McGue, Matt; Iacono, William G

    2014-11-01

    Premorbid risk for major depressive disorder (MDD) and predictors of an earlier onset and recurrent course were examined in two studies in a large, community-based sample of parents and offspring, prospectively assessed from late childhood into adulthood. In Study 1 (N = 2,764 offspring and their parents), parental psychiatric status, offspring personality at age 11, and age 11 offspring internalizing and externalizing symptoms predicted the subsequent development of MDD, as did poor quality parent-child relationships, poor academic functioning, early pubertal development, and childhood maltreatment by age 11. Parental MDD and adult antisocial behavior, offspring negative emotionality and disconstraint, externalizing symptoms, and childhood maltreatment predicted an earlier onset of MDD, after accounting for course; lower positive emotionality, trait anxiety, and childhood maltreatment predicted recurrent MDD, after accounting for age of onset. In Study 2 (N = 7,146), we examined molecular genetic risk for MDD by extending recent reports of associations with glutamatergic system genes. We failed to confirm associations with MDD using either individual single nucleotide polymorphism based tests or gene-based analyses. Overall, results speak to the pervasiveness of risk for MDD, as well as specific risk for early onset MDD; risk for recurrent MDD appears to be largely a function of its often earlier onset.

  4. Neonatal muscular manifestations in mitochondrial disorders.

    Science.gov (United States)

    Tulinius, Már; Oldfors, Anders

    2011-08-01

    During the last decade rapid development has occurred in defining nuclear gene mutations causing mitochondrial disease. Some of these newly defined gene mutations cause neonatal or early infantile onset of disease, often associated with severe progressive encephalomyopathy combined with other multi-organ involvement such as cardiomyopathy or hepatopathy and with early death. Findings suggesting myopathy in neonates are hypotonia, muscle weakness and wasting, and arthrogryposis. We aim to describe the clinical findings of patients with mitochondrial disease presenting with muscular manifestations in the neonatal period or in early infancy and in whom the genetic defect has been characterized. The majority of patients with neonatal onset of mitochondrial disease have mutations in nuclear genes causing dysfunction of the mitochondrial respiratory chain, leading to defective oxidative phosphorylation.

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

    Energy Technology Data Exchange (ETDEWEB)

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

    1995-06-19

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

  6. Neuropsychology test and P300 detection characteristics analysis in early-onset Parkinson’s disease

    Institute of Scientific and Technical Information of China (English)

    黄静

    2014-01-01

    Objective To investigate the clinical and cognitive characteristics of early-onset Parkinson’s disease(EOPD).Methods Two hundred and forty-two Parkinson’s disease(PD)patients were divided into EOPD(≤50 year-old,n=76)and late-onset Parkinson’s disease(LOPD;>50 year-old,n=1 66)according to their age.The age,disease duration,family history and other general clinical features were compared between EOPD and LOPD groups.Global and various aspects of cognitive dysfunction were

  7. Risk Factors for Early-Onset and Very-Early-Onset Pancreatic Adenocarcinoma: A Pancreatic Cancer Case-Control Consortium (PanC4) Analysis.

    Science.gov (United States)

    McWilliams, Robert R; Maisonneuve, Patrick; Bamlet, William R; Petersen, Gloria M; Li, Donghui; Risch, Harvey A; Yu, Herbert; Fontham, Elizabeth T H; Luckett, Brian; Bosetti, Cristina; Negri, Eva; La Vecchia, Carlo; Talamini, Renato; Bueno de Mesquita, H Bas; Bracci, Paige; Gallinger, Steven; Neale, Rachel E; Lowenfels, Albert B

    2016-02-01

    While pancreatic cancer (PC) most often affects older adults, to date, there has been no comprehensive assessment of risk factors among PC patients younger than 60 years. We defined early-onset PC (EOPC) and very-early-onset PC (VEOPC) as diagnosis of PC in patients younger than 60 and 45 years, respectively. We pooled data from 8 case-control studies, including 1954 patients with EOPC and 3278 age- and sex-matched control subjects. Logistic regression analysis was performed to identify associations with EOPC and VEOPC. Family history of PC, diabetes mellitus, smoking, obesity, and pancreatitis were associated with EOPC. Alcohol use equal to or greater than 26 g daily also was associated with increased risk of EOPC (odds ratio, 1.49; 95% confidence interval, 1.21-1.84), and there appeared to be a dose- and age-dependent effect of alcohol on risk. The point estimate for risk of VEOPC was an odds ratio of 2.18 (95% confidence interval, 1.17-4.09). The established risk factors for PC, including smoking, diabetes, family history of PC, and obesity, also apply to EOPC. Alcohol intake appeared to have an age-dependent effect; the strongest association was with VEOPC.

  8. Extent of Spine Deformity Predicts Lung Growth and Function in Rabbit Model of Early Onset Scoliosis.

    Directory of Open Access Journals (Sweden)

    J Casey Olson

    Full Text Available Early onset deformity of the spine and chest wall (initiated <8 years of age is associated with increased morbidity at adulthood relative to adolescent onset deformity of comparable severity. Presumably, inhibition of thoracic growth during late stage alveolarization leads to an irreversible loss of pulmonary growth and thoracic function; however the natural history of this disease from onset to adulthood has not been well characterized. In this study we establish a rabbit model of early onset scoliosis to establish the extent that thoracic deformity affects structural and functional respiratory development. Using a surgical right unilateral rib-tethering procedure, rib fusion with early onset scoliosis was induced in 10 young New Zealand white rabbits (3 weeks old. Progression of spine deformity, functional residual capacity, total lung capacity, and lung mass was tracked through longitudinal breath-hold computed tomography imaging up to skeletal maturity (28 weeks old. Additionally at maturity forced vital capacity and regional specific volume were calculated as functional measurements and histo-morphometry performed with the radial alveolar count as a measure of acinar complexity. Data from tethered rib rabbits were compared to age matched healthy control rabbits (N = 8. Results show unilateral rib-tethering created a progressive spinal deformity ranging from 30° to 120° curvature, the severity of which was strongly associated with pulmonary growth and functional outcomes. At maturity rabbits with deformity greater than the median (55° had decreased body weight (89%, right (59% and left (86% lung mass, right (74% and left (69% radial alveolar count, right lung volume at total lung capacity (60%, and forced vital capacity (75%. Early treatment of spinal deformity in children may prevent pulmonary complications in adulthood and these results provide a basis for the prediction of pulmonary development from thoracic structure. This model may

  9. Predictors of onset of psychosis in patients with Parkinson's disease: Who gets it early?

    Science.gov (United States)

    Lenka, Abhishek; George, Lija; Arumugham, Shyam Sundar; Hegde, Shantala; Reddy, Venkateswara; Kamble, Nitish; Yadav, Ravi; Pal, Pramod Kumar

    2017-09-14

    Psychosis is one of the common non-motor symptoms of PD, which substantially worsens the quality of life. Hence, it is important to identify factors that are associated with early onset of psychosis in PD. In order to identify those factors, the current study aims to compare various demographic and clinical features of PD patients with early and late onset psychosis. In this prospective case-control study, 51 consecutive patients with PD having psychosis (PDP) were recruited. Median of the latency of onset of psychotic symptoms from the onset of motor symptoms was calculated (5.5 years) and after doing a median split, the cohort of PDP was divided into early onset PDP (EOP, n = 25) and late onset PDP (LOP, n = 26). Both the groups were compared for several demographic and clinical characteristics. Compared to those with LOP, patients with EOP had poor scores on frontal assessment battery (13.8 ± 2.0 vs 15.3 ± 1.8, p = 0.007), more frequently had Rapid Eye movement sleep Behavior Disorder (RBD) (80% vs 46.2%, p = 0.02), Postural Instability with Gait Difficulty (PIGD) phenotype (72% vs 26.9%, p = 0.002), and excessive daytime sleepiness (Epworth Sleepiness Scale: 8.04 ± 3.7 vs 3.9 ± 3.1). Patients with LOP were older (63.4 ± 7.0 years vs 56.5 ± 8.1 years, p = 0.002) and had higher Levodopa equivalent dose/day (LEDD: 819.1 ± 365.8 vs 608.5 ± 356.3, p = 0.04) compared to those with EOP. Presence of RBD, excessive daytime sleepiness, frontal lobe dysfunction, and PIGD phenotype of PD may be associated with early onset of psychosis in PD. Higher LEDD may not trigger early occurrence of psychosis in PD. Copyright © 2017. Published by Elsevier Ltd.

  10. Role of enteric supplementation of probiotics on late-onset sepsis by candida species in preterm low birth weight neonates: A randomized, double blind, placebo-controlled trial

    Directory of Open Access Journals (Sweden)

    Amrita Roy

    2014-01-01

    Full Text Available Background: The increase in invasive fungal infections (IFIs in neonatal intensive care unit (NICU is jeopardizing the survival of preterm neonates. Probiotics modulating the intestinal microflora of preterm neonates may minimize enteral fungal colonization. Aims: This study was to examine whether probiotic supplementation in neonates reduced fungal septicemia. Materials and Methods: This prospective, randomized, double blind trial investigating the supplementation of preterm infants with a probiotic was done from May 2012 to April 2013, with 112 subjects randomized into two groups. Primary outcome: Decreased fungal colonization in gastrointestinal tract. Others: Incidence of late onset septicemia; duration of the primary hospital admission; number of days until full enteral feeds established. Results: Full feed establishment was earlier in probiotics group compared to placebo group (P = 0.016. The duration of hospitalization was less in the probiotic group (P = 0.002. Stool fungal colonization, an important outcome parameter was 3.03 ± 2.33 × 10 5 colony formation units (CFU in the probiotics group compared to 3 ± 1.5 × 10 5 CFU in the placebo group (P = 0.03. Fungal infection is less in the study group (P = 0.001. Conclusion: The key features of our study were reduced enteral fungal colonization, reduce invasive fungal sepsis, earlier establishment of full enteral feeds, and reduced duration of hospital stay in the probiotics group.

  11. Tobacco Smoke Exposure as Risk Factor in Early Neonatal Death in Mataram, Nusa Tenggara Barat (NTB

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    Musrifa .

    2014-08-01

    Full Text Available Objective: To investigate tobacco smoke exposure as risk factor of early neonatal death in Mataram, NTB.Method: The study design was case control with a total sample of 87 consisting of 29 cases and 58 controls (1:2.Dependent variable was early neonatal death, independent variable was tobacco smoke exposure. Frequency ofantenatal visit, family income, delivery complications, anemia and low birth weight were confounding variables. Datawere collected through interview and registered cohort data from nine health centres during the period of 1 January-31December 2013. Data were analyzed by using bivariate and multivariate (logistic regression to calculate crude OR andadjusted OR.Result: Results of bivariate analysis indicated that tobacco smoke exposure during pregnancy, extent of exposure ?3cigarettes/days during pregnancy, and amount of exposure ?6 cigarettes/days last 24 hours were 2.75 (95%CI: 0.72-10.50; 2.34 (95%CI: 0.77-7.08; and 2.18 (95%CI: 0.65-7.29 respectively, increasing neonatal death but was notstatistically significant. Multivariate analysis indicated that tobacco smoke exposure during pregnancy was 1.32 (95%CI:0.03-69.90. OR of other variables: low birth weight, family income under Rp. 1,100,000,- and delivery complicationswere 204.39 (95%CI: 20.37-2050.07; 7.86 (95%CI: 1.45-42.83 and 7.55 (95%CI: 1.01-56.38 respectively.Conclusion: Tobacco smoke exposure was not statistically significant risk factor, specifically the smoking habits of thehusband. Study discovered that low birth weight, family income under Rp. 1,100,000,- and delivery complication duringbirth were statistically significant factors. Further study is needed to confirm these findings.Key words: tobacco smoke exposure, early neonatal death, risk factors, Nusa Tenggara Barat

  12. 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.

  13. 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

    2017-03-16

    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.

  14. 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.

  15. 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

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

    Science.gov (United States)

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

    2008-07-01

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

  17. Clinical analysis of cases of neonatal Streptococcus agalactiae sepsis.

    Science.gov (United States)

    Zeng, S J; Tang, X S; Zhao, W L; Qiu, H X; Wang, H; Feng, Z C

    2016-06-17

    With the advent of antibiotic resistance, pathogenic bacteria have become a major threat in cases of neonatal sepsis; however, guidelines for treatment have not yet been standardized. In this study, 15 cases of neonatal Streptococcus agalactiae sepsis from our hospital were retrospectively analyzed. Of these, nine cases showed early-onset and six cases showed late-onset sepsis. Pathogens were characterized by genotyping and antibiotic sensitivity tests on blood cultures. Results demonstrated that in cases with early-onset sepsis, clinical manifestations affected mainly the respiratory tract, while late-onset sepsis was accompanied by intracranial infection. Therefore, we suggest including a cerebrospinal fluid examination when diagnosing neonatal sepsis. Bacterial genotyping indicated the bacteria were mainly type Ib, Ia, and III S. agalactiae. We recommend treatment with penicillin or ampicillin, since bacteria were resistant to clindamycin and tetracycline. In conclusion, our results provide valuable information for the clinical treatment of S. agalactiae sepsis in neonatal infants.

  18. 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.)

  19. Genetic risk factors for myocardial infarction more clearly manifest for early age of first onset.

    Science.gov (United States)

    Titov, Boris V; Osmak, German J; Matveeva, Natalia A; Kukava, Nino G; Shakhnovich, Roman M; Favorov, Alexander V; Ruda, Mikhail Ya; Favorova, Olga O

    2017-07-06

    Epidemiological genetics established that heritability in determining the risk of myocardial infarction (MI) is substantially greater when MI occurs early in life. However, the genetic architecture of early-onset and late-onset MI was not compared. We analyzed genotype frequencies of SNPs in/near 20 genes whose protein products are involved in the pathogenesis of atherosclerosis in two groups of Russian patients with MI: the first group included patients with age of first MI onset <60 years (N = 230) and the second group with onset ≥60 years (N = 174). The control group of corresponding ethnicity consisted of 193 unrelated volunteers without cardiovascular diseases (93 individuals were over 60 years). We found that in the group of patients with age of onset <60 years, SNPs FGB rs1800788*T, TGFB1 rs1982073*T/T, ENOS rs2070744*C and CRP rs1130864*T/T were associated with risk of MI, whereas in patients with age of onset ≥60 years, only TGFB1 rs1982073*T/T was associated with risk of MI. Using APSampler software, we found composite markers associated with MI only in patients with early onset: FGB rs1800788*T + TGFB1 rs1982073*T; FGB rs1800788*T + LPL rs328*C + IL4 rs2243250*C; FGB rs1800788*T + ENOS rs2070744*C (Fisher p values of 1.4 × 10(-6) to 2.2 × 10(-5); the permutation p values of 1.1 × 10(-5) to 3.0 × 10(-4); ORs = 2.67-2.54). Alleles included in the combinations were associated with MI less significantly and with lower ORs than the combinations themselves. The result showed a substantially greater contribution of the genetic component in the development of MI if it occurs early in life, and demonstrated the usefulness of genetic testing for young people.

  20. MRI-based diagnostic biomarkers for early onset pediatric multiple sclerosis

    Directory of Open Access Journals (Sweden)

    Martin Weygandt

    2015-01-01

    Full Text Available Currently, it is unclear whether pediatric multiple sclerosis (PMS is a pathoetiologically homogeneous disease phenotype due to clinical and epidemiological differences between early and late onset PMS (EOPMS and LOPMS. Consequently, the question was raised whether diagnostic guidelines need to be complemented by specific EOPMS markers. To search for such markers, we analyzed cerebral MRI images acquired with standard protocols using computer-based classification techniques. Specifically, we applied classification algorithms to gray (GM and white matter (WM tissue probability parameters of small brain regions derived from T2-weighted MRI images of EOPMS patients (onset <12 years, LOPMS patients (onset ≥12 years, and healthy controls (HC. This was done for PMS subgroups matched for disease duration and participant age independently. As expected, maximal diagnostic information for distinguishing PMS patients and HC was found in a periventricular WM area containing lesions (87.1% accuracy, p < 2.2 × 10−5. MRI-based biomarkers specific for EOPMS were identified in prefrontal cortex. Specifically, a coordinate in middle frontal gyrus contained maximal diagnostic information (77.3%, p = 1.8 × 10−4. Taken together, we were able to identify biomarkers reflecting pathognomonic processes specific for MS patients with very early onset. Especially GM involvement in the separation between PMS subgroups suggests that conventional MRI contains a richer set of diagnostically informative features than previously assumed.

  1. A common genetic background could explain early-onset Crohn's disease.

    Science.gov (United States)

    Bianco, Anna Monica; Zanin, Valentina; Girardelli, Martina; Magnolato, Andrea; Martelossi, Stefano; Martellossi, Stefano; Tommasini, Alberto; Marcuzzi, Annalisa; Crovella, Sergio

    2012-04-01

    Crohn's disease (CD) is a multifactorial disease, in which environmental, microbial and genetic factors play important roles. CD is characterized by a chronic granulomatous inflammation by necrotic scarring with aspects of full-thickness wall. In spite of affecting mainly young adults, sometimes, CD can be present in the first year of life (early onset Crohn disease, EOCD) showing an unpredictable course and being often more severe than at older ages. In this paper we propose the hypothesis that EOCD patients should be analyzed using a Mendelian approach with family studies aimed to identify new loci directly involved in the early onset Crohn's disease. So we will leave the classic association study approach used until now for the identification of genes responsible for susceptibility to CD and propose linkage family analysis as alternative and powerful tool for the identification of new genetic variants associated with familiar cases of EOCD.

  2. 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.

  3. Cortisol and ACTH levels in drug-naive adolescents with first-episode early onset schizophrenia.

    Science.gov (United States)

    Şimşek, Şeref; Gençoğlan, Salih; Yüksel, Tuğba; Aktaş, Hüseyin

    2017-03-01

    The aim of this study was to investigate serum levels of cortisol and adrenocorticotropic hormone in adolescents with first-episode early onset schizophrenia. A total of 23 adolescent patients, who did not receive prior therapy and who were diagnosed with psychosis according to DSM-IV, were included. Kiddie-Schedule for Affective Disorders and Schizophrenia-Present and Lifetime Version, Positive and Negative Symptom Scale, and Clinical Global Impression Scale were conducted with the participants. No significant differences were found between the patients and the control subjects in serum cortisol and adrenocorticotropic hormone levels (P > .05). Our study's findings do not support the hypothesis of increased hypothalamic-pituitary-adrenal axis activity in first-episode early onset schizophrenia.

  4. A novel early onset phenotype in a zebrafish model of merosin deficient congenital muscular dystrophy

    Science.gov (United States)

    Smith, Sarah J.; Wang, Jeffrey C.; Gupta, Vandana A.; Dowling, James J.

    2017-01-01

    Merosin deficient congenital muscular dystrophy (MDC1A) is a severe neuromuscular disorder with onset in infancy that is associated with severe morbidities (particularly wheelchair dependence) and early mortality. It is caused by recessive mutations in the LAMA2 gene that encodes a subunit of the extracellular matrix protein laminin 211. At present, there are no treatments for this disabling disease. The zebrafish has emerged as a powerful model system for the identification of novel therapies. However, drug discovery in the zebrafish is largely dependent on the identification of phenotypes suitable for chemical screening. Our goal in this study was to elucidate novel, early onset abnormalities in the candyfloss (caf) zebrafish, a model of MDC1A. We uncovered and characterize abnormalities in spontaneous coiling, the earliest motor movement in the zebrafish, as a fully penetrant change specific to caf mutants that is ideal for future drug testing. PMID:28241031

  5. 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...

  6. 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…

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

    Science.gov (United States)

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

    2009-07-01

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

  8. Executive Abilities as Reflected by Clock Hand Placement: Frontotemporal Dementia Versus Early-Onset Alzheimer Disease.

    Science.gov (United States)

    Barrows, Robin J; Barsuglia, Joseph; Paholpak, Pongsatorn; Eknoyan, Donald; Sabodash, Valeriy; Lee, Grace J; Mendez, Mario F

    2015-12-01

    The clock-drawing test (CDT) is widely used in clinical practice to diagnose and distinguish patients with dementia. It remains unclear, however, whether the CDT can distinguish among the early-onset dementias. Accordingly, we examined the ability of both quantitative and qualitative CDT analyses to distinguish behavioral variant frontotemporal dementia (bvFTD) and early-onset Alzheimer disease (eAD), the 2 most common neurodegenerative dementias with onset <65 years of age. We hypothesized that executive aspects of the CDT would discriminate between these 2 disorders. The study compared 15 patients with bvFTD and 16 patients with eAD on the CDT using 2 different scales and correlated the findings with neuropsychological testing and magnetic resonance imaging. The total CDT scores did not discriminate bvFTD and eAD; however, specific analysis of executive hand placement items successfully distinguished the groups, with eAD exhibiting greater errors than bvFTD. The performance on those executive hand placement items correlated with measures of naming as well as visuospatial and executive function. On tensor-based morphometry of the magnetic resonance images, executive hand placement correlated with right frontal volume. These findings suggest that lower performance on executive hand placement items occurs with involvement of the right dorsolateral frontal-parietal network for executive control in eAD, a network disproportionately affected in AD of early onset. Rather than the total performance on the clock task, the analysis of specific errors, such as executive hand placement, may be useful for early differentiation of eAD, bvFTD, and other conditions.

  9. Risk for Early-Onset Schizophrenia Assessed via Gray-Matter Distributions

    OpenAIRE

    Christensen, James D.

    2005-01-01

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

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

    Science.gov (United States)

    Christensen, James D

    2005-01-01

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

  11. Gender-related differences in severe, early-onset chronic obstructive pulmonary disease.

    Science.gov (United States)

    Silverman, E K; Weiss, S T; Drazen, J M; Chapman, H A; Carey, V; Campbell, E J; Denish, P; Silverman, R A; Celedon, J C; Reilly, J J; Ginns, L C; Speizer, F E

    2000-12-01

    Men have higher prevalence rates of chronic obstructive pulmonary disease (COPD) than women, which has been attributed to the historically higher rates of cigarette smoking in males. However, the increased rates of cigarette smoking in females within the last several decades have been associated with steadily increasing rates of COPD in women. As part of a study of the genetics of severe, early-onset COPD, we assembled a group of 84 probands with severe, early-onset COPD (without severe alpha(1)-antitrypsin deficiency) and 348 of their first-degree relatives. We found a markedly elevated prevalence (71.4%) of females among the early-onset COPD probands. Among the entire group of first-degree relatives of early-onset COPD probands, univariate analysis demonstrated similar spirometric values and bronchodilator responsiveness in males and females; however, among current or ex-smokers, female first-degree relatives had significantly lower FEV(1)/ FVC (81.4 +/- 17.2% in females versus 87.0 +/- 12.9% in males, p = 0.009) and significantly greater bronchodilator responsiveness (expressed as percentage of baseline FEV(1)) (7.7 +/- 9.4% pred in females versus 4.1 +/- 6.4% pred in males, p = 0.002). Female smoking first-degree relatives were significantly more likely to demonstrate profound reductions in FEV(1) (< 40% pred) than male smoking first-degree relatives (p = 0. 03). Multivariate analysis, performed with generalized estimating equations, demonstrated that current or ex-smoking female first-degree relatives had significantly greater risk of FEV(1) < 80% pred (OR 1.91, 95% CI 1.03- 3.54), FEV(1) < 40% pred (OR 3.56, 95% CI 1.08-11.71), and bronchodilator response greater than 10% of baseline FEV(1) (OR 4.74, 95% CI 1.91-11.75). These results suggest that women may be more susceptible to the development of severe COPD.

  12. Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease.

    Science.gov (United States)

    Flanagan, Sarah E; Haapaniemi, Emma; Russell, Mark A; Caswell, Richard; Lango Allen, Hana; De Franco, Elisa; McDonald, Timothy J; Rajala, Hanna; Ramelius, Anita; Barton, John; Heiskanen, Kaarina; Heiskanen-Kosma, Tarja; Kajosaari, Merja; Murphy, Nuala P; Milenkovic, Tatjana; Seppänen, Mikko; Lernmark, Åke; Mustjoki, Satu; Otonkoski, Timo; Kere, Juha; Morgan, Noel G; Ellard, Sian; Hattersley, Andrew T

    2014-08-01

    Monogenic causes of autoimmunity provide key insights into the complex regulation of the immune system. We report a new monogenic cause of autoimmunity resulting from de novo germline activating STAT3 mutations in five individuals with a spectrum of early-onset autoimmune disease, including type 1 diabetes. These findings emphasize the critical role of STAT3 in autoimmune disease and contrast with the germline inactivating STAT3 mutations that result in hyper IgE syndrome.

  13. Association between Interleukin-10 gene polymorphisms and risk of early-onset preeclampsia.

    Science.gov (United States)

    Song, Limeng; Zhong, Mei

    2015-01-01

    We conducted a case-control study to investigate the role of IL-10 -1082A/G (rs1800896), -819T/C (rs1800871), and -592A/C (rs1800872) polymorphisms in the development of early-onset preeclampsia. Polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) assay was applied to assess the polymorphisms of IL-10 -1082A/G (rs1800896), -819T/C (rs1800871), and -592A/C (rs1800872). The genotype distributions of IL-10 -1082A/G (rs1800896), -819T/C (rs1800871), and -592A/C (rs1800872) confirmed with HWE in the controls, and the P value for HWE was 0.41, 0.38 and 0.26, respectively. The results of the multivariate logistic regression analysis revealed that the association of individuals expressing the CC genotype and AC+CC of IL-10 -592A/C (rs1800872) with a significantly increased risk of early-onset preeclampsia in co-dominant and dominant models, compared to the AA genotype; the OR (95% CI) for these individuals was determined to be 2.09 (1.12-3.90) and 1.66 (1.03-2.71), respectively. In the recessive model, we found that CC genotype of IL-10 -592A/C (rs1800872) was associated with the increased risk of early-onset preeclampsia when compared with AA+AC genotype (OR = 1.67; 95% CI = 1.01-2.92). In conclusion, our study has indicated that IL-10 -592A/C (rs1800872) polymorphism was associated with an increased risk of early-onset preeclampsia in a Chinese population.

  14. 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.

  15. Beyond mice: Emerging and transdisciplinary models for the study of early-onset myopathies.

    Science.gov (United States)

    Jagla, Krzysztof; Kalman, Benoit; Boudou, Thomas; Hénon, Sylvie; Batonnet-Pichon, Sabrina

    2017-04-01

    The use of the adapted models to decipher patho-physiological mechanisms of human diseases is always a great challenge. This is of particular importance for early-onset myopathies, in which pathological mutations often impact not only on muscle structure and function but also on developmental processes. Mice are currently the main animal model used to study neuromuscular disorders including the early-onset myopathies. However strategies based on simple animal models and on transdisciplinary approaches exploring mechanical muscle cell properties emerge as attractive, non-exclusive alternatives. These new ways provide valuable opportunities to improve our knowledge on how mechanical, biochemical, and genetic/epigenetic cues modulate the formation, organization and function of muscle tissues. Here we provide an overview of how single cell and micro-tissue engineering in parallel to non-mammalian, Drosophila and zebrafish models could contribute to filling gaps in our understanding of pathogenic mechanisms underlying early-onset myopathies. We also discuss their potential impact on designing new diagnostic and therapeutic strategies. Copyright © 2016 Elsevier Ltd. All rights reserved.

  16. Reduced life expectancy seen in hereditary diseases which predispose to early-onset tumors

    Directory of Open Access Journals (Sweden)

    Evans DGR

    2013-07-01

    Full Text Available D Gareth R Evans,1 Sarah Louise Ingham21Genetic Medicine, Manchester Academic Health Science Centre, Central Manchester Foundation Trust, St Mary's Hospital, Manchester, UK; 2Centre for Health Informatics, Institute of Population Health, The University of Manchester, Manchester, UKAbstract: There are several hereditary diseases that are a predisposition to early-onset tumors. These include syndromic conditions like neurofibromatosis 1 and 2, von Hippel–Lindau syndrome, Gorlin syndrome, multiple endocrine neoplasia, and familial adenomatous polyposis; and conditions which are usually not possible to diagnose clinically in a single individual, such as Lynch syndrome and BRCA1/2. Understanding of the mortality in hereditary cancer predisposing diseases is important for developing effective disease treatment programs. A number of studies have been undertaken to investigate the genetic predictors, prevalence and incidence, and treatment outcomes of these diseases; however, the majority examine only the most common of these diseases (eg, neurofibromatosis or BRCA, or look into postoperative survival. The mortality of individuals who are diagnosed with one of these hereditary diseases remains an area for investigation. This review is the first to attempt identification of studies investigating life expectancy in hereditary diseases which predispose to early-onset tumors.Keywords: mortality, survival, life expectancy, early-onset, tumors

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

    Science.gov (United States)

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

    1999-02-01

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

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

    Science.gov (United States)

    Frey, H.

    1977-01-01

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

  19. Combined Effect of TLR2 Gene Polymorphism and Early Life Stress on the Age at Onset of Bipolar Disorders

    OpenAIRE

    José Oliveira; Bruno Etain; Mohamed Lajnef; Nora Hamdani; Meriem Bennabi; Djaouida Bengoufa; Aparna Sundaresh; Arij Ben Chaabane; Frank Bellivier; Chantal Henry; Jean-Pierre Kahn; Dominique Charron; Rajagopal Krishnamoorthy; Marion Leboyer; Ryad Tamouza

    2015-01-01

    Gene-environment interactions may play an important role in modulating the impact of early-life stressful events on the clinical course of bipolar disorder (BD), particularly associated to early age at onset. Immune dysfunction is thought to be an important mechanism linking childhood trauma with early-onset BD, thus the genetic diversity of immune-related loci may account for an important part of the interindividual susceptibility to this severe subform. Here we investigated the potential in...

  20. 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.

  1. 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.

  2. 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 development that principally mediates altered brain development associated with FGR. © 2017 S. Karger AG, Basel.

  3. Mode of Birth Influences Preterm Infant Intestinal Colonization With Bacteroides Over the Early Neonatal Period.

    Science.gov (United States)

    Gregory, Katherine E; LaPlante, Rose D; Shan, Gururaj; Kumar, Deepak Vijaya; Gregas, Matt

    2015-12-01

    Intestinal colonization during infancy is important to short- and long-term health outcomes. Bacteroides, an early member of the intestinal microbiome, is necessary for breaking down complex molecules within the intestine and function to assist the body's immune system in fighting against potentially harmful pathogens. Little is known about the colonization pattern of Bacteroides in preterm infants during the early neonatal period. This study measured Bacteroides colonization during the early neonatal period in a population of preterm infants, based on clinical factors including mode of birth, antibiotics, and nutrition. Bacterial DNA was isolated from 144 fecal samples from 29 preterm infants and analyzed using quantitative real-time polymerase chain reaction. Analyses included liner mixed models to determine which clinical factors affect Bacteroides colonization of the infant gut. We found that infants born via vaginal canal had a higher rate of increase in Bacteroides than infants born via cesarean section (P Bacteroides colonization. These findings highlight the significant influence of mode of birth on Bacteroides colonization. While mode of birth is not always modifiable, these study findings may help develop interventions for preterm infants born via cesarean section aimed at overcoming delayed Bacteroides colonization. Greater study of the intestinal microbiome and the clinical factors relevant to the preterm infant is needed so that interventions may be developed and tested, resulting in optimal microbial and immune health.

  4. Neonatal imitation and early social experience predict gaze following abilities in infant monkeys.

    Science.gov (United States)

    Simpson, Elizabeth A; Miller, Grace M; Ferrari, Pier F; Suomi, Stephen J; Paukner, Annika

    2016-02-01

    Individuals vary in their social skills and motivation, the causes of which remain largely unknown. Here we investigated whether an individual's propensity to interact with others measured within days after birth, and differences in infants' early social environment, may predict a later social skill. Specifically, we tested whether neonatal imitation--newborns' capacity to match modelled actions--and social experience in the first months of life predict gaze following (directing attention to locations where others look), in infant macaques (Macaca mulatta; n = 119). Facial gesture imitation in the first week of life predicted gaze following at 7 months of age. Imitators were better at gaze following than non-imitators, suggesting neonatal imitation may be an early marker predicting socio-cognitive functioning. In addition, infants with rich social environments outperformed infants with less socialization, suggesting early social experiences also support the development of infants' gaze following competence. The present study offers compelling evidence that an individual difference present from birth predicts a functional social cognitive skill in later infancy. In addition, this foundational skill--gaze following--is plastic, and can be improved through social interactions, providing infants with a strong foundation for later social interaction and learning.

  5. Early oral-motor management on feeding performance in premature neonates

    Directory of Open Access Journals (Sweden)

    Yan-Lin Liu

    2013-03-01

    Conclusion: Abnormal brain sonography [odds ratio (OR: 2.222, p = 0.047 and necrotizing enterocolitis (NEC (OR: 2.857, p = 0.017 did affect the first trial in the study group. Early intervention of oral-motor management in very-low-birth-weight premature infants improved feeding performance and neonatal outcome in terms of shorter hospital days. Abnormal brain image and NEC could interfere with the success rate of initial challenge of transitioning from tube to oral feeding in the study group.

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

    Directory of Open Access Journals (Sweden)

    Lucarelli Elisabetta

    2011-04-01

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

  7. PSEN1 and PRNP gene mutations: co-occurrence makes onset very early in a family with FTD phenotype.

    Science.gov (United States)

    Bernardi, Livia; Anfossi, Maria; Gallo, Maura; Geracitano, Silvana; Cola, Rosanna; Puccio, Gianfranco; Curcio, Sabrina A M; Frangipane, Francesca; Mirabelli, Maria; Clodomiro, Alessandra; Di Lorenzo, Raffaele; Smirne, Nicoletta; Maletta, Raffaele; Iapaolo, David; Bruni, Amalia C

    2011-01-01

    Prion protein (PRNP) gene mutations have recently been associated with clinical pictures resembling Frontotemporal dementia (FTD). We describe a novel seven extra-repeat insertional mutation in the PRNP gene in a family affected by early-onset autosomal dominant FTD previously reported as caused by a PSEN1 mutation in which there was inconsistency between clinical picture and genotype. Both mutations were pathogenic and showed a variable penetrance when present separately; when occurring together, the onset was very early, within the third decade of life. Genetic screening of the PRNP gene becomes of major importance in early onset autosomal dominant dementia.

  8. 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, Ron; Radovanovic, Mirjana; van Laar, Margriet; Fairman, Brian; Degenhardt, Louisa; Aguilar-Gaxiola, Sergio; Bruffaerts, Ronny; de Girolamo, Giovanni; Fayyad, John; Gureje, Oye; Maria Haro, Josep; Huang, Yueqin; Kostychenko, Stanislav; Lepine, Jean-Pierre; Matschinger, Herbert; Medina Mora, Maria Elena; Neumark, Yehuda; Ormel, Johan; Posada-Villa, Jose; Stein, Dan J.; Tachimori, Hisateru; Wells, J. Elisabeth; Anthony, James 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) ris

  9. 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, Ron; Radovanovic, Mirjana; van Laar, Margriet; Fairman, Brian; Degenhardt, Louisa; Aguilar-Gaxiola, Sergio; Bruffaerts, Ronny; de Girolamo, Giovanni; Fayyad, John; Gureje, Oye; Maria Haro, Josep; Huang, Yueqin; Kostychenko, Stanislav; Lepine, Jean-Pierre; Matschinger, Herbert; Medina Mora, Maria Elena; Neumark, Yehuda; Ormel, Johan; Posada-Villa, Jose; Stein, Dan J.; Tachimori, Hisateru; Wells, J. Elisabeth; Anthony, James 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) ris

  10. Identifying anomalously early spring onsets in the CESM large ensemble project

    Science.gov (United States)

    Labe, Zachary; Ault, Toby; Zurita-Milla, Raul

    2016-08-01

    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.

  11. Early-onset Alzheimer’s Disease: Nonamnestic Subtypes and Type 2 AD

    Science.gov (United States)

    Mendez, Mario F.

    2012-01-01

    Patients with Alzheimer’s disease (AD), the most prevalent neurodegenerative dementia, are usually elderly; however, ~4–5% develop early-onset AD (EOAD) with onset before age 65. Most EOAD is sporadic, but about 5% of patients with EOAD have an autosomal dominant mutation such as Presenilin 1, Presenilin 2, or alterations in the Amyloid Precursor Protein gene. Although most Alzheimer’s research has concentrated on older, late-onset AD (LOAD), there is much recent interest and research in EOAD. These recent studies indicate that EOAD is a heterogeneous disorder with significant differences from LOAD. From 22–64% of EOAD patients have a predominant nonamnestic syndrome presenting with deficits in language, visuospatial abilities, praxis, or other non-memory cognition. These nonamnestic patients may differ in several ways from the usual memory or amnestic patients. Patients with nonamnestic EOAD compared to typical amnestic AD have a more aggressive course, lack the apolipoprotein E ε4 (APOE ε4) susceptibility gene for AD, and have a focus and early involvement of non-hippocampal areas of brain, particularly parietal neocortex. These differences in the EOAD subtypes indicate differences in the underlying amyloid cascade, the prevailing pathophysiological theory for the development of AD. Together the results of recent studies suggest that nonamnestic subtypes of EOAD constitute a Type 2 AD distinct from the usual, typical disorder. In sum, the study of EOAD can reveal much about the clinical heterogeneity, predisposing factors, and neurobiology of this disease. PMID:23178565

  12. Concordance of bioactive vs. total immunoreactive serum leptin levels in children with severe early onset obesity.

    Science.gov (United States)

    Stanik, Juraj; Kratzsch, Jürgen; Landgraf, Kathrin; Scheuermann, Kathrin; Spielau, Ulrike; Gausche, Ruth; Gasperikova, Daniela; Kiess, Wieland; Körner, Antje

    2017-01-01

    Leptin secreted from adipose tissue signals peripheral energy status to the brain. Monogenic leptin deficiency results in severe early onset obesity with hyperphagia. Recently, a similar phenotype of inactivating leptin mutations but with preserved immunoreactivity and hence normal circulating immunoreactive leptin has been reported. We aimed to evaluate the proportion of bioactive leptin serum levels (compared to immunoreactive leptin) as a biomarker for the screening of leptin gene mutations causing monogenic obesity. Furthermore, we aimed to compare the immunoreactive and bioactive leptin levels associations with parameters of insulin resistance and insulin secretion in obese children and adolescents. We measured bioactive and immunoreactive leptin levels by enzyme-linked immunosorbent assays in fasting serum samples of 70 children with severe (BMI SDS >3) non-syndromic obesity with onset leptin gene was performed in probands with proportion of bioactive/immunoreactive leptin leptin were almost identical (41.1±25.2 vs. 41.1±25.4ng/mL). In three probands with the lowest bioactive leptin proportion (leptin gene. Compared to immunoreactive leptin, bioactive leptin showed similar and slightly better statistical associations with indices of insulin resistance in correlation and multivariate analyses. In our sample selected for severe early onset childhood obesity, we did not identify leptin gene mutations leading to decreased proportion of bioactive leptin. Nevertheless, the bioactive leptin levels were stronger associated with selected insulin secretion/resistance indices than the immunoreactive leptin levels.

  13. How Can the Microbiologist Help in Diagnosing Neonatal Sepsis?

    Directory of Open Access Journals (Sweden)

    Michela Paolucci

    2012-01-01

    Full Text Available Neonatal sepsis can be classified into two subtypes depending upon whether the onset of symptoms is before 72 hours of life (early-onset neonatal sepsis—EONS or later (late-onset neonatal sepsis—LONS. These definitions have contributed greatly to diagnosis and treatment by identifying which microorganisms are likely to be responsible for sepsis during these periods and the expected outcomes of infection. This paper focuses on the tools that microbiologist can offer to diagnose and eventually prevent neonatal sepsis. Here, we discuss the advantages and limitation of the blood culture, the actual gold standard for sepsis diagnosis. In addition, we examine the utility of molecular techniques in the diagnosis and management of neonatal sepsis.

  14. How Can the Microbiologist Help in Diagnosing Neonatal Sepsis?

    Science.gov (United States)

    Paolucci, Michela; Landini, Maria Paola; Sambri, Vittorio

    2012-01-01

    Neonatal sepsis can be classified into two subtypes depending upon whether the onset of symptoms is before 72 hours of life (early-onset neonatal sepsis—EONS) or later (late-onset neonatal sepsis—LONS). These definitions have contributed greatly to diagnosis and treatment by identifying which microorganisms are likely to be responsible for sepsis during these periods and the expected outcomes of infection. This paper focuses on the tools that microbiologist can offer to diagnose and eventually prevent neonatal sepsis. Here, we discuss the advantages and limitation of the blood culture, the actual gold standard for sepsis diagnosis. In addition, we examine the utility of molecular techniques in the diagnosis and management of neonatal sepsis. PMID:22319539

  15. 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.

  16. An insight into early onset of scoliosis: new update information - a review.

    Science.gov (United States)

    Alsiddiky, A M

    2015-08-01

    Early-onset scoliosis is an onerous challenge to physicians. These patients are young with significant remaining growth potential. Thus, patients are likely to develop progressive deformities, cosmetic disfigurement and cardiopulmonary consequences warrant early intervention in many cases. The purpose of this review is to provide the readers with brief description of the disease, therapeutic modalities available and their indications and use. Publications and abstracts related to EOS in the last decade were carried out and synthesized into a review "an insight into early onset of scoliosis." A comprehensive understanding of the scoliosis, its impact on the thoracic development may guide in treatment, which is often required at a young age in these children to prevent irreversible pulmonary insufficiency. Current treatment techniques are based on multiple factors may include non-surgical strategies, such as Derotational body cast or brace in younger patients with curve treatment of spinal deformity should be considered when nonoperative measures are failed to arrest curve progression. Growing rods have been the mainstay treatment of early-onset scoliosis which require repeated surgeries for distraction and are associated with exponential increase in complications. The vertical expandable prosthetic titanium rib may be beneficial for those patients with congenital scoliosis and fused ribs and thoracic insufficiency syndrome. Shilla technique is an alternative to growing rods that avoids the morbidity of repeated lengthening. Growth modulation using staples or tethers shows promise for milder curvatures, but further follow-up is needed to define their use. Although new technologies have improved the treatment of children with EOS but it continues to be challenging with high complication rates.

  17. Risk factors and clinical outcomes for carbapenem-resistant Gram-negative late-onset sepsis in a neonatal intensive care unit.

    Science.gov (United States)

    Nour, I; Eldegla, H E; Nasef, N; Shouman, B; Abdel-Hady, H; Shabaan, A E

    2017-09-01

    Carbapenem-resistant (CR), Gram-negative (GN), late-onset sepsis (LOS) is a serious threat in the neonatal intensive care unit (NICU). To assess the prevalence of CR-GN-LOS in NICU patients and to identify the risk factors and outcomes associated with its acquisition. Neonates with carbapenem-susceptible (CS)-GN-LOS were compared with those with CR-GN-LOS in a two-year observational study. A total of 158 patients had GN-LOS; 100 infants had CS-GN-LOS and 58 infants had CR-GN-LOS. The incidence rate of CR-GN-LOS was 6.5 cases per 1000 patient-days. The most frequent bacterial strain in both groups was Klebsiella pneumoniae. The duration of total parenteral nutrition (TPN) (P=0.006) and prior carbapenem use (P=0.01) were independent risk factors for CR-GN-LOS acquisition. CR-GN-LOS was associated with higher mortality than CS-GN-LOS (P=0.04). Birth weight, small for gestational age, time to start enteral feeding, exclusive formula feeding, previous surgery, previous antifungal use, central venous device before onset, duration of central venous device, and infectious complications were identified as dependent risk factors for overall mortality. However, only male gender (P=0.04) and infectious complications (P < 0.001) were independent risk factors associated with mortality. Infectious complication rates, duration of mechanical ventilation, and length of hospital stay were significantly higher in infants with CR compared to CS-GN-LOS. The duration of TPN and carbapenem use were the independent predictors for CR-GN-LOS acquisition. CR-GN-LOS is associated with higher mortality, infectious complication rates, longer mechanical ventilation, and longer hospital stay. Male gender and infectious complications were the independent risk factors for mortality in neonates with GN-LOS. Copyright © 2017 The Healthcare Infection Society. Published by Elsevier Ltd. All rights reserved.

  18. A less invasive approach to screening for early onset neonatal GBS.

    LENUS (Irish Health Repository)

    Glackin, S

    2015-03-01

    Recent recommendations for the management of an asymptomatic term infant with one septic risk factor for Group B Streptococcal (GBS) invasive disease have advised a clinical approach. Following a previous audit in our unit which showed that high numbers of asymptomatic infants were receiving antibiotics, a new protocol was introduced which emphasised the importance of clinical examination. This study assessed the safety and efficacy of this new protocol through chart review of 1855 eligible infants. We found a statistically significant decrease (P < 0.0001) from 444 (19%) to 121 (6.5%) in the total number of term infants who underwent septic evaluations and received antibiotics. 241 asymptomatic infants with one septic risk factor were managed conservatively. No eligible infants had GBS invasive disease during the three month study period. The new protocol is a safe and effective tool for evaluating infants at risk of GBS invasive disease.

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

    Science.gov (United States)

    Money, Deborah; Allen, Victoria M

    2013-10-01

    Objectif : Analyser les données issues de la littérature et formuler des recommandations sur la prise en charge des parturientes en vue de prévenir l’infection néonatale à streptocoques du groupe B d’apparition précoce. Parmi les révisions clés que renferme la présente directive clinique mise à jour, on trouve des modifications quant aux recommandations en ce qui concerne les schémas posologiques d’antibioprophylaxie, les épreuves de sensibilité et la prise en charge des femmes présentant une rupture prématurée des membranes. Issues : Parmi les issues maternelles évaluées, on trouvait l’exposition aux antibiotiques au cours de la grossesse et du travail, ainsi que les complications associées à l’administration d’antibiotiques. Les issues néonatales associées aux taux d’infection néonatale à streptocoques du groupe B d’apparition précoce ont été évaluées. Résultats : La littérature publiée a été récupérée par l’intermédiaire de recherches menées dans PubMed, CINAHL et The Cochrane Library entre janvier 1980 et juillet 2012, au moyen d’un vocabulaire contrôlé et de mots clés appropriés (« Group B streptococcus », « antibiotic therapy », « infection », « prevention »). Les résultats ont été restreints aux analyses systématiques, aux essais comparatifs randomisés / essais cliniques comparatifs et aux études observationnelles. Aucune restriction n’a été appliquée en matière de date ou de langue. Les recherches ont été mises à jour de façon régulière et intégrées à la directive clinique jusqu’en mai 2013. La littérature grise (non publiée) a été identifiée par l’intermédiaire de recherches menées dans les sites Web d’organismes s’intéressant à l’évaluation des technologies dans le domaine de la santé et d’organismes connexes, dans des collections de directives cliniques, dans des registres d’essais cliniques et auprès de sociétés de spécialité médicale nationales et internationales. Valeurs : La qualité des résultats est évaluée au moyen des critères décrits dans le rapport du Groupe d’étude canadien sur les soins de santé préventifs (Tableau). Avantages, désavantages et coûts : Les recommandations que renferme la présente directive clinique sont conçues de façon à aider les cliniciens à identifier et à assurer la prise en charge des grossesses exposées à un risque d’infection néonatale à streptocoques du groupe B, en vue d’optimiser les issues maternelles et périnatales. Aucune analyse de rentabilité n’est fournie. Déclaration sommaire Nous disposons de bonnes données (issues d’essais comparatifs randomisés) indiquant que, chez les femmes présentant une rupture prématurée des membranes à terme qui sont colonisées par des streptocoques du groupe B, le déclenchement du travail entraîne une baisse des taux d’infection néonatale. (I) Aucune donnée ne permet de soutenir que, dans une telle situation clinique, la prise en charge non interventionniste permet l’obtention de bonnes issues néonatales. Recommandations 1. Offrir, à toutes les femmes, un dépistage de la colonisation par des streptocoques du groupe B à 35 - 37 semaines de gestation au moyen d’une mise en culture effectuée à partir d’un écouvillonnage du vagin, en premier lieu, et du rectum par la suite (au-delà du sphincter anal). (II-1A) Cette approche s’applique également aux femmes chez qui une césarienne est planifiée, et ce, en raison de leur risque de connaître un travail ou une rupture des membranes avant la date prévue de la césarienne. (II-2B) 2. En raison de l’association entre une forte colonisation et l’infection néonatale d’apparition précoce, administrer une antibioprophylaxie intraveineuse visant les streptocoques du groupe B dans les cas suivants, au moment de l’apparition du travail ou de la rupture des membranes : • toutes les femmes ayant obtenu des résultats positifs (indiquant la présence de streptocoques du groupe B) dans le cadre du dépistage par mise en culture d’un écouvillonnage vaginal / rectal mené à 35 - 37 semaines de gestation (II-2B); • toute femme ayant déjà accouché d’un enfant présentant une infection à streptocoques du groupe B (II-3B); • toute femme ayant présenté une bactériurie à streptocoques du groupe B documentée (peu importe le taux d’unités formatrices de colonies) dans le cadre de la grossesse en cours (II-2A). 3. Administrer une antibioprophylaxie intraveineuse visant les streptocoques du groupe B pendant un minimum de 48 heures à toutes les femmes se trouvant à grossesse en cours ou qu’elle a déjà accouché d’un enfant atteint d’une infection à streptocoques du groupe B, administrer une antibioprophylaxie intraveineuse visant les streptocoques du groupe B. La tenue immédiate d’un accouchement obstétrical (tel que le déclenchement du travail) s’avère indiquée, comme le décrit la directive clinique intitulée « Déclenchement du travail » qui a été publiée par la Société des obstétriciens et gynécologues du Canada en septembre 2013. (II-2B) 7. À ≥ 37 semaines de gestation, lorsque le statut quant à la colonisation par des streptocoques du groupe B est inconnu, qu’une mise en culture n’a pas été menée à 35 - 37 semaines de gestation (ou que les résultats d’une telle mise en culture ne sont pas disponibles) et que les membranes sont rompues depuis plus de 18 heures, administrer une antibioprophylaxie intraveineuse visant les streptocoques du groupe B. (II-2B) 8. Lorsque, chez une femme présentant une rupture prématurée des membranes à < 37 semaines de gestation, les résultats du dépistage des streptocoques du groupe B par mise en culture sont inconnus ou positifs, administrer une antibioprophylaxie intraveineuse visant les streptocoques du groupe B pendant 48 heures, ainsi que d’autres antibiotiques lorsque cela s’avère indiqué, en attendant la mise en œuvre spontanée ou obstétricalement indiquée du travail. (II-3B).

  20. Associations of personal and family preeclampsia history with the risk of early-, intermediate- and late-onset preeclampsia.

    Science.gov (United States)

    Boyd, Heather A; Tahir, Hassaan; Wohlfahrt, Jan; Melbye, Mads

    2013-12-01

    Preeclampsia encompasses multiple conditions of varying severity. We examined the recurrence and familial aggregation of preeclampsia by timing of onset, which is a marker for severity. We ascertained personal and family histories of preeclampsia for women who delivered live singletons in Denmark in 1978-2008 (almost 1.4 million pregnancies). Using log-linear binomial regression, we estimated risk ratios for the associations between personal and family histories of preeclampsia and the risk of early-onset (before 34 weeks of gestation, which is typically the most severe), intermediate-onset (at 34-36 weeks of gestation), and late-onset (after 36 weeks of gestation) preeclampsia. Previous early-, intermediate-, or late-onset preeclampsia increased the risk of recurrent preeclampsia with the same timing of onset 25.2 times (95% confidence interval (CI): 21.8, 29.1), 19.7 times (95% CI: 17.0, 22.8), and 10.3 times (95% CI: 9.85, 10.9), respectively, compared with having no such history. Preeclampsia in a woman's family was associated with a 24%-163% increase in preeclampsia risk, with the strongest associations for early- and intermediate-onset preeclampsia in female relatives. Preeclampsia in the man's family did not affect a woman's risk of early-onset preeclampsia and was only weakly associated with her risks of intermediate- and late-onset preeclampsia. Early-onset preeclampsia appears to have the largest genetic component, whereas environmental factors likely contribute most to late-onset preeclampsia. The role of paternal genes in the etiology of preeclampsia appears to be limited.

  1. Case of early childhood-onset narcolepsy with cataplexy: comparison with a monozygotic co-twin.

    Science.gov (United States)

    Ito, Hiromichi; Mori, Kenji; Mori, Tatsuo; Goji, Aya; Kagami, Shoji

    2014-10-01

    We describe here a rare case of early childhood-onset (5 years of age) narcolepsy. This case was interesting because of the ability to compare the patient's symptoms to the condition of her healthy monozygotic co-twin sister. The only environmental difference between the co-twins was head injury, which may be associated with the presence of narcolepsy. The co-twin was extroverted, sociable, reliable, and dexterous. In contrast, the patient could be described as introverted, gentle, honest and persevering, but was weak at conversation, assessment of a situation, memory, planning, activity (she was inactive), a sense of time, understanding of an analog clock, operating efficiency, and physical education (due to obesity). The sisters showed the same degree of appetite and dexterity with their fingers. Narcolepsy is often under-recognized or underdiagnosed, especially when the onset occurs in childhood. When we observe preschoolers with excessive daytime sleepiness, we should consider the possibility of narcolepsy with cataplexy.

  2. 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.

  3. Amyloid imaging with [(18)F]florbetapir in geriatric depression: early-onset versus late-onset.

    Science.gov (United States)

    Tateno, Amane; Sakayori, Takeshi; Higuchi, Makoto; Suhara, Tetsuya; Ishihara, Keiichi; Kumita, Shinichiro; Suzuki, Hidenori; Okubo, Yoshiro

    2015-07-01

    We examined patients with mild cognitive impairment (MCI) with a history of geriatric depression (GD) and healthy controls (HC) to evaluate the effect of beta-amyloid (Aβ) pathology on the pathology of GD by using [(18)F]florbetapir PET. Thirty-three elderly patients (76.7 ± 4.2 years) and 22 healthy controls (HC; 72.0 ± 4.5 years, average ± SD) were examined by [(18)F]florbetapir positron emission tomography (PET) to quantify the standard uptake value ratio (SUVR) as the degree of amyloid accumulation, by MRI to determine the degree of atrophy, by Mini-Mental State Examination for cognitive functions, and by Geriatric Depression Scale for the severity of depression, and by Clinical Dementia Rating for activity of daily living (ADL). The cut-off value of 1.08 for SUVR was defined as Aβ-positive. Of the patients and HC, 39.4% and 27.3%, respectively, were beta-amyloid-positive. The onset age of GD was significantly correlated with SUVR (r = 0.44, p depression and ADL, and brain atrophy. GD + Aβ had significantly older average ± SD age at onset of GD (73.6 ± 7.1 versus 58.7 ± 17.8, p < 0.01) and significantly shorter average ± SD time between onset of GD and PET scan day (3.1 ± 5.2 years versus 18.1 ± 18.6 years, p < 0.001) than GD-Aβ. Our results showed that the rate of Aβ positivity was higher in late-onset GD and that onset-age was associated with SUVR, suggesting that the later the onset of GD, the more Aβ pathology affected its onset. Copyright © 2014 John Wiley & Sons, Ltd.

  4. Clinical Analysis on 78 Cases of Early Onset Severe Preeclampsia%78例早发型重度子痫前期的临床分析

    Institute of Scientific and Technical Information of China (English)

    李新; 崔蓉; 王蕾

    2011-01-01

    目的 探讨早发型重度子痫前期对围产期母婴预后的影响.方法 对78例早发型重度子痫前期患者进行回顾性分析.根据其孕周不同分为3组,即A组(孕周20 d).结果 早发型重度子痫前期发病孕周越早,患者的并发症的发生率越高,A、B、C各组间差异无统计学意义(P>0.05);新生儿病死率和围产儿病死率随着发病孕周的延长及治疗时间的延长而显著降低,差异有统计学意义(P<0.01).结论 早发型重度子痫前期严重影响母婴预后,适当期限内的保守治疗有助于改善母儿结局.%Objective To study the impact of early onset severe preeclampsia on the prognosis of perinatal mothers and infants.Methods A retrospective study was carried out on 78 patients with early onset severe preeclampsia. They were divided into three groups according to gestational weeks: group A( <28 weeks) ,group B( ≤28 -32 weeks) and group C( ≤32 -34 weeks). And four groups was defined according to duration of expectant management: group( ≤48 h) ,group( <48 h <7 d) ,group(7 ≤20 d) and group( > 20 d). Results The incidence of complications increased with the early attacks of early onset severe preeclampsia (less gestational weeks) ;No significant difference among the three groups was found( P > 0.05 ). The neonatal mortality and perinatal mortality rate decreased with the prolongation of onset week and time of treatment( P < 0.01 ). Conclusion The early onset severe preeclampsia badly influences the prognosis of perinatal mothers and infants. The expectant treatment can improve the outcomes of perinatal mothers and infants.

  5. Prevention of neonatal late-onset sepsis associated with the removal of percutaneously inserted central venous catheters in preterm infants

    NARCIS (Netherlands)

    Hemels, Marieke A. C.; van den Hoogen, Agnes; Verboon-Maciolek, Malgorzata A.; Fleer, Andre; Krediet, Tannette G.

    2011-01-01

    Objectives: Indwelling central venous catheters are the most important risk factors for the development of sepsis attributable to coagulase-negative staphylococci among preterm infants admitted to neonatal intensive care units. In addition, removal of a central venous catheter also may cause coagula

  6. Prevention of neonatal late-onset sepsis associated with the removal of percutaneously inserted central venous catheters in preterm infants

    NARCIS (Netherlands)

    Hemels, Marieke A. C.; van den Hoogen, Agnes; Verboon-Maciolek, Malgorzata A.; Fleer, Andre; Krediet, Tannette G.

    Objectives: Indwelling central venous catheters are the most important risk factors for the development of sepsis attributable to coagulase-negative staphylococci among preterm infants admitted to neonatal intensive care units. In addition, removal of a central venous catheter also may cause

  7. Early and late onset depression in young and middle aged adults : Differential symptomatology, characteristics and risk factors?

    NARCIS (Netherlands)

    Korten, Nicole C. M.; Comijs, Hannie C.; Lamers, Femke; Penninx, Brenda W. J. H.

    2012-01-01

    Background: Early onset depression (EOD) and late onset depression (LOD) may be different phenomena. In this study, differences between EOD and LOD in symptomatology, psychiatric characteristics and psychosocial/somatic factors were examined. Methods: Baseline data were from 1104 participants with a

  8. Toxoplasma gondii as a Risk Factor for Early-Onset Schizophrenia: Analysis of Filter Paper Blood Samples Obtained at Birth

    DEFF Research Database (Denmark)

    Mortensen, Preben Bo; Nørgaard-Pedersen, Bent; Waltoft, Berit Lindum

    2007-01-01

    of infection and other schizophrenia-like disorders or affective disorders. CONCLUSIONS: Our study supports an association between Toxoplasma gondii and early-onset schizophrenia. Further studies are needed to establish if the association is causal and if it generalizes to cases with onset after age 18...

  9. Toxoplasma gondii as a Risk Factor for Early-Onset Schizophrenia: Analysis of Filter Paper Blood Samples Obtained at Birth

    DEFF Research Database (Denmark)

    Mortensen, Preben Bo; Nørgaard-Pedersen, Bent; Waltoft, Berit Lindum

    2006-01-01

    of infection and other schizophrenia-like disorders or affective disorders. CONCLUSIONS: Our study supports an association between T gondii and early-onset schizophrenia. Further studies are needed to establish if the association is causal and if it generalizes to cases with onset after age 18....

  10. Mutation analysis of ATP13A2 in early-onset parkinsonism patients

    Institute of Scientific and Technical Information of China (English)

    Yuping Ning; Hiroyuki Tomiyama; Yuanzhe Li; Manabu Funayama; Hiroyo Yoshino; Shigeto Sato; Yoshikuni Mizuno; Nobutaka Hattori

    2008-01-01

    BACKGROUND: A recent study has found that ATP13A2 is the causative gene for PARK9-linked autosomal recessive early-onset parkinsonism, described previously in Jordanian and Chilean families (Kufor-Rakeb syndrome). OBJECTIVE: To screen eastern Asian patients with early-onset parkinsonism for mutations in ATP13A2 and to describe positron emission tomography (PET) findings of PARK9-linked parkinsonism.DESIGN, TIME AND SETTING: In total, 117 patients were selected from the Department of Neurology, Juntendo University, from February 2003 to October 2006, for this molecular genetics and case-control study.PARTICIPANTS: The patients with parkinsonism consist of two cohorts. Ninety four patients with onset age of less than 30 years were selected for the first cohort. They included 49 males and 44 females, comprising 73 Japanese, 9 Korean, 8 Taiwanese, and 4 Mainland Chinese. Eleven patients had parkinsonism complicated with dementia, 15 patients had family histories of parkinsonism (including 2 families), and 5 patients were from consanguineous parents (including one family). The second cohort of 23 patients was composed of patients with consanguineous parents (n = 15) or who had affected siblings (n = 6) or both (n = 2), but the age at onset ranged from 30 to 50 years.METHODS: In 117 patients with parkinsonism, direct sequencing of ATP13A2 exons 13, 16, and 26, in which mutations had been reported previously, were performed. Sequencing was also performed in all 29 exons, including splice sites, in 28 probands who showed homozygosity at the PARK9 locus by haplotype analysis. Mutation analysis was also performed in 150 normal people. Linkage analysis was performed on all 3 parkinsonism families using short tandem repeat markers flanking the PARK9 locus. For patients who had ATP13A2 mutation, we performed brain MRI and 18F-dopa PET scans.MAIN OUTCOME MEASURES: ATP13A2 DNA sequence, 18F-dopa PET scan and brain MRI findings.RESULTS: A novel F182L mutation in a consanguineous

  11. 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.

  12. 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.

  13. Early-Onset Scoliosis: A Review of History, Current Treatment, and Future Directions.

    Science.gov (United States)

    Yang, Scott; Andras, Lindsay M; Redding, Gregory J; Skaggs, David L

    2016-01-01

    Early-onset scoliosis (EOS) is defined as curvature of the spine in children >10° with onset before age 10 years. Young children with EOS are at risk for impaired pulmonary function because of the high risk of progressive spinal deformity and thoracic constraints during a critical time of lung development. The treatment of EOS is very challenging because the population is inhomogeneous, often medically complex, and often needs multiple surgeries. In the past, early spinal fusion was performed in children with severe progressive EOS, which corrected scoliosis but limited spine and thoracic growth and resulted in poor pulmonary outcomes. The current goal in treatment of EOS is to maximize growth of the spine and thorax by controlling the spinal deformity, with the aim of promoting normal lung development and pulmonary function. Bracing and casting may improve on the natural history of progression of spinal deformity and are often used to delay surgical intervention or in some cases obviate surgery. Recent advances in surgical implants and techniques have led to the development of growth-friendly implants, which have replaced early spine fusion as the surgical treatment of choice. Treatment with growth-friendly implants usually requires multiple surgeries and is associated with frequent complications. However, growth-friendly spine surgery has been shown to correct spinal deformity while allowing growth of the spine and subsequently lung growth.

  14. The common single-nucleotide polymorphism rs2681472 is associated with early-onset preeclampsia in Northern Han Chinese women.

    Science.gov (United States)

    Wan, Ji-Peng; Wang, Hong; Li, Chang-Zhong; Zhao, Han; You, Li; Shi, Dong-Hong; Sun, Xiu-Hua; Lv, Hong; Wang, Fei; Wen, Ze-Qing; Wang, Xie-Tong; Chen, Zi-Jiang

    2014-11-01

    Preeclampsia, characterized by hypertension and proteinuria, remains a leading cause of maternal morbidity and mortality. Recently, a genome-wide association study (GWAS) identified the single-nucleotide polymorphism, rs2681472, as a new hypertension susceptibility genetic variant. The purpose of this study was to evaluate the association between preeclampsia and rs268172 in a Northern Han Chinese population. We genotyped 1218 unrelated Northern Han Chinese women, including 515 patients with preeclampsia and 703 healthy controls. No significant differences were detected in the allele frequencies between patients and controls (P = .23). When patients were divided into early-onset and late-onset preeclampsia according to gestational age of disease onset, the allele frequencies significantly differed between controls and patients with early-onset preeclampsia (P = .02). Genotype frequencies also were significantly different between controls and patients early-onset preeclampsia when data were analyzed under additive (P = .03) and dominant (P = .009) models. We replicated this association in an independent Northern Han Chinese population and observed a significant difference in the allele frequencies between patients with early-onset preeclampsia and controls (P = .011). We report that rs2681472 is associated with early-onset preeclampsia in Northern Han Chinese women. © The Author(s) 2014.

  15. The dramatic effects of Galantamine in a patient with early-onset Alzheimer's disease.

    Science.gov (United States)

    Dev, Harveer; Agius, Mark; Zaman, Rashid

    2010-06-01

    We discuss the case of a 51 year old former mid-wife presented to the NHS Luton and Bedfordshire psychiatric services with a 2 year history of increasing forgetfulness with significant impairment to her daily function. She was diagnosed with non-familial early-onset Alzheimer's Disease (EOAD) and started on 8mg daily of the acetylcholinesterase inhibitor Galantamine. The information for this study was gathered from patient notes, consultant, collateral and personal accounts. Periodic outpatient consultations at the NHS Luton and Bedfordshire psychiatric services were used to monitor Mrs LF's global, functional and behavioral progress. These were supplemented with the mini mental state examination (MMSE) at each outpatient appointment. The graph of MMSE scores illustrates severe decline in scores, followed eventually by increase in score to sustained improvement while continuing on galantamine. Functionally, this lady has successfully negotiated a divorce, moved into her own accommodation, began travelling on holidays, including abroad, with friends, and has now embarked on a new relationship. Whilst only being a single case study, this demonstrates the significant benefits which are attainable with Galantamine in EOAD. The extent of this improvement may be a result of individual variation, or perhaps a greater efficacy for this drug in the subset of 'early-onset' AD patients, which has long been thought to share the same mechanism as traditional AD. The responsiveness to Galantamine in this patient may suggest an alternative mechanism of Early Onset Alzheimer's Disease to typical Alzheimer's Disease in the over 65's. The case raises interesting questions as to whether EOAD should be considered distinct to typical (over 65's) AD, given the greater than expected response to Galantamine.

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

    Science.gov (United States)

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

    2013-03-15

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

  17. Neonatal Bacterial Colonization Predispose to Lower Respiratory Infections in Early Childhood

    DEFF Research Database (Denmark)

    Vissing, Nadja Hawwa

    2014-01-01

    neonatal airway colonization and risk of the LRI in a validated study cohort, and whether a possible association could be reflected in the early immune response to airway pathogens. In study I we aimed to ascertain the quality of information on child’s health, including asthma, allergy, eczema, respiratory...... the in vitro systemic immune response by stimulating peripheral blood mononuclear cells collected at age 6 months with S.pneumoniae, H.influenzae and/or M.catarrhalis and quantified the production of a range of cytokines. Incidence of LRI was associated to an immune response pattern characterized by perturbed...... production of several cytokines, rather than production of one specific cytokine, and was independent of concurrent asthma. This suggests that children at risk of future LRI present a distinct systemic immune response upon exposure to common airway pathogens in early life, possibly reflecting an aberrant...

  18. ATP13A2 variants in early-onset Parkinson's disease patients and controls

    DEFF Research Database (Denmark)

    Djarmati, Ana; Hagenah, Johann; Reetz, Kathrin

    2009-01-01

    Four genes responsible for recessively inherited forms of Parkinson's disease (PD) have been identified, including the recently discovered ATP13A2 (PARK9) gene. Our objective was to investigate the role of this gene in a large cohort of PD patients and controls. We extensively screened all 29 exons...... of the ATP13A2 coding region in 112 patients with early-onset PD (EOPD; origin and of 55 controls. We identified four carriers (3.6%) of novel single heterozygous ATP13A2 missense changes that were absent in controls. Interestingly, the carrier of one of these variants...

  19. 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

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

    Science.gov (United States)

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

    2014-06-01

    In the early phases, subchondral insufficiency fractures and rapidly destructive osteoarthritis of the hip are often mistaken for osteonecrosis of the hip. Three hip measures were used comparing combined subchondral insufficiency fractures and rapidly destructive 18 osteoarthritis patients to 18 osteonecrosis patients. Due to the rarity of these conditions there was no statistical power. Initial diagnoses for the osteoarthritis patients were recorded. The osteoarthritis group had significantly higher means for Tönnis angle (P osteoarthritis. Using hip measures will reduce the misdiagnosis of rapid onset osteoarthritis of the hip for osteonecrosis.

  1. 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

    2017-08-22

    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

  2. Approach to early-onset colorectal cancer:Clinicopathological,familial,molecular and immunohistochemical characteristics

    Institute of Scientific and Technical Information of China (English)

    Jose; Perea; Edurne; Alvaro; Yolanda; Rodríguez; Cristina; Gravalos; Eva; Sánchez-Tomé; Barbara; Rivera; Francisco; Colina; Pablo; Carbonell; Rogelio; González-Sarmiento; Manuel; Hidalgo; Miguel; Urioste

    2010-01-01

    AIM:To characterize clinicopathological and familial features of early-onset colorectal cancer(CRC) and compare features of tumors with and without microsatellite instability(MSI).METHODS:Forty-five patients with CRC aged 45 or younger were included in the study.Clinical information,a three-generation family history,and tumor samples were obtained.MSI status was analyzed and mismatch repair genes were examined in the MSI families.Tumors were included in a tissue microarray and an immunohistochemical study w...

  3. Early-onset type 2 diabetes in a Mexican survey. Results from the National Health and Nutrition Survey 2006

    OpenAIRE

    Aída Jiménez-Corona; Rosalba Rojas; Francisco J Gómez-Pérez; Aguilar-Salinas, Carlos A

    2010-01-01

    OBJECTIVE: To describe the characteristics of patients with type 2 diabetes diagnosed before age 40 (early-onset type 2 diabetes) identified in a nation-wide, population-based study. MATERIALS AND METHODS: The survey was done in Mexico during 2006. Medical history, anthropometric and biochemical measurements were obtained in every subject. RESULTS: Cases diagnosed before (n=181) and after age 40 (n=659) were included. Early-onset type 2 diabetes was present in 13.1% of the previously diagnose...

  4. Neonatal Biomarkers of Inflammation: Correlates of Early Neurodevelopment and Gait in Very-Low-Birth-Weight Preterm Children.

    Science.gov (United States)

    Rose, Jessica; Vassar, Rachel; Cahill-Rowley, Katelyn; Hintz, Susan R; Stevenson, David K

    2016-01-01

    Neonatal biomarkers of inflammation were examined in relation to early neurodevelopment and gait in very-low-birth-weight (VLBW) preterm children. We hypothesized that preterm infants exposed to higher levels of neonatal inflammation would demonstrate lower scores on Bayley Scales of Infant Toddler Development, 3rd ed. (BSID-III) and slower gait velocity at 18 to 22 months adjusted age. A total of 102 VLBW preterm infants (birthweight [BW] ≤ 1,500 g, gestational age [GA] ≤ 32 weeks) admitted to neonatal intensive care unit [NICU] were recruited. Neonatal risk factors examined were GA at birth, BW, bronchopulmonary dysplasia, necrotizing enterocolitis, retinopathy of prematurity, sepsis, and serum C-reactive protein (CRP), albumin, and total bilirubin over first 2 postnatal weeks. At 18 to 22 months, neurodevelopment was assessed with BSID-III and gait was assessed with an instrumented mat. Children with neonatal CRP ≥ 0.20 mg/dL (n = 52) versus low-level neonatal inflammation and neurodevelopment suggest early biomarkers that may inform neuroprotective treatment for preterm children. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  5. [Acute intussusception, a rare cause of small bowel obstruction in premature neonates: the advantages of early diagnosis].

    Science.gov (United States)

    Boubal, M; Jacquot, A; Baud, C; Allal, H; Cambonie, G; Picaud, J-C

    2010-10-01

    We report a case of intussusception in a premature neonate who presented with early signs of upper gastrointestinal tract obstruction. Diagnosing acute intussusception in premature infants is difficult because of its infrequency relative to other neonatal abdominal problems and because the clinical symptomatology shows similarities with that of necrotizing enterocolitis. In the reported case, the diagnosis was made by sonography. Unlike full-term neonates, the presence of a pathological lead point is very infrequent. The intussusception is predominantly located in the small bowel and is most often associated with bowel compromise. This disease should be considered in all neonates with signs of intestinal obstruction to permit a better prognosis via prompt surgical intervention.

  6. Mapping the Progression of Atrophy in Early- and Late-Onset Alzheimer's Disease.

    Science.gov (United States)

    Migliaccio, Raffaella; Agosta, Federica; Possin, Katherine L; Canu, Elisa; Filippi, Massimo; Rabinovici, Gil D; Rosen, Howard J; Miller, Bruce L; Gorno-Tempini, Maria Luisa

    2015-01-01

    The term early-onset Alzheimer's disease (EOAD) identifies patients who meet criteria for AD, but show onset of symptoms before the age of 65. We map progression of gray matter atrophy in EOAD patients compared to late-onset AD (LOAD). T1-weighted MRI scans were obtained at diagnosis and one-year follow-up from 15 EOAD, 10 LOAD, and 38 age-matched controls. Voxel-based and tensor-based morphometry were used, respectively, to assess the baseline and progression of atrophy. At baseline, EOAD patients already showed a widespread atrophy in temporal, parietal, occipital, and frontal cortices. After one year, EOAD had atrophy progression in medial temporal and medial parietal cortices. At baseline, LOAD patients showed atrophy in the medial temporal regions only, and, after one year, an extensive pattern of atrophy progression in the same neocortical cortices of EOAD. Although atrophy mainly involved different lateral neocortical or medial temporal hubs at baseline, it eventually progressed along the same brain default-network regions in both groups. The cortical region showing a significant progression in both groups was the medial precuneus/posterior cingulate.

  7. 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

    2015-11-03

    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. Published by Elsevier España, S.L.U. All rights reserved.

  8. Early Versus Late Onset of Cannabis Use: Differences in Striatal Response to Cannabis Cues

    Science.gov (United States)

    Wetherill, Reagan R.; Hager, Nathan; Jagannathan, Kanchana; Mashhoon, Yasmin; Pater, Heather; Childress, Anna Rose; Franklin, Teresa R.

    2017-01-01

    Addiction theories posit that addiction is the result of a progressive transition from voluntary to habitual, compulsive drug use—changes that have been linked, in animals, to a shift from ventral to dorsal striatal control over drug-seeking behavior. Thus, we hypothesized that early-onset (EOs) cannabis users versus late-onset (LOs) cannabis users might exhibit, respectively, greater dorsal versus ventral striatal response to drug cues. We used functional magnetic resonance imaging and an event-related blood oxygen level-dependent backward-masking task to evaluate striatal responses to backward-masked cannabis cues (vs. neutral cues) in EOs (cannabis use patterns. Direct comparisons revealed that EOs showed greater response to cannabis cues in the dorsal striatum than LOs (p 50 voxels). Within-group analyses revealed that EOs showed greater neural response to cannabis cues in the dorsal striatum, whereas LOs exhibited greater neural response to cannabis cues in the ventral striatum. Although cross-sectional, these findings are consistent with recent addiction theories suggesting a progressive shift from ventral to dorsal striatal control over drug-seeking behavior and highlight the importance of age of onset of cannabis use on the brain and cognition.

  9. 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.; Koenen, Steven V.; Mol, Ben W.; Franx, Arie; de Groot, Christianne J. M.; Koster, Maria P. H.; Koster, M.P.H. (Wendy)

    2015-01-01

    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 investi

  10. Late-onset neonatal sepsis in Arab states in the Gulf region: two-year prospective study

    Directory of Open Access Journals (Sweden)

    Majeda S. Hammoud

    2017-02-01

    Conclusion: LOS poses a major burden in this area, which could be due to the increasing care of premature babies. Gram-negative organisms, particularly Klebsiella spp, are having an increasing role in LOS in this region, with high levels of resistance to third-generation cephalosporins. NICUs in the area should create a platform through which to share experience in reducing neonatal sepsis and contribute to a common antibiotic stewardship program.

  11. Kcne2 deletion causes early-onset nonalcoholic fatty liver disease via iron deficiency anemia

    Science.gov (United States)

    Lee, Soo Min; Nguyen, Dara; Anand, Marie; Kant, Ritu; Köhncke, Clemens; Lisewski, Ulrike; Roepke, Torsten K.; Hu, Zhaoyang; Abbott, Geoffrey W.

    2016-01-01

    Nonalcoholic fatty liver disease (NAFLD) is an increasing health problem worldwide, with genetic, epigenetic, and environmental components. Here, we describe the first example of NAFLD caused by genetic disruption of a mammalian potassium channel subunit. Mice with germline deletion of the KCNE2 potassium channel β subunit exhibited NAFLD as early as postnatal day 7. Using mouse genetics, histology, liver damage assays and transcriptomics we discovered that iron deficiency arising from KCNE2-dependent achlorhydria is a major factor in early-onset NAFLD in Kcne2─/─ mice, while two other KCNE2-dependent defects did not initiate NAFLD. The findings uncover a novel genetic basis for NAFLD and an unexpected potential factor in human KCNE2-associated cardiovascular pathologies, including atherosclerosis. PMID:26984260

  12. 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.

  13. The Usefulness of Biological and Neuroimaging Markers for the Diagnosis of Early-Onset Alzheimer's Disease

    Directory of Open Access Journals (Sweden)

    Alessandro Padovani

    2011-01-01

    Full Text Available The recent proposed criteria for Alzheimer's Disease (AD have strongly claimed the usefulness of biological and neuroimaging markers for early identification AD. Cerebrospinal fluid (CSF Tau/Abeta ratio, hippocampal atrophy, posterior cingulate, and neocortical associative area hypometabolism, or amyloid burden evaluated by PiB compound, held the premises to increase diagnostic accuracy in the preclinical disease stages. Despite many efforts to identify subjects at risk of developing AD, less attention has been paid to presenile AD diagnosis. A few data are already available in early onset AD, mainly obtained in cases of monogenic disorder. In this paper, we discuss the current literature on the role of biological and neuroimaging markers in presenile AD.

  14. [Multiple pregnancies. Neonatal morbidity and mortality].

    Science.gov (United States)

    Lenclen, R; Chassevent, J; Blanc, P; Hoenn, E; Olivier-Martin, M; Paupe, A; Philippe, H J

    1991-10-01

    The increase in the number of multiple pregnancies and the high incidence of prematurity in this type of pregnancy justifies a pediatric evaluation. A retrospective study (1985-1989) compared the perinatal and neonatal characteristics of children resulting from 14 multifetal (at least 3 fetuses) pregnancies, with a gestational age of less than 34 weeks, with 27 children resulting from monofetal pregnancies of the same duration. Neonatal morbidity and mortality appeared to be similar in both groups. Thus at this very early time of onset of labour (mean gestational age of 30 weeks), fetal multiplicity expressed itself neither by any particular neonatal pathology nor by malnutrition.

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

    Science.gov (United States)

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

    2012-04-01

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

  16. 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.

  17. Submersion and early-onset acute respiratory distress syndrome: a case report.

    Science.gov (United States)

    Diamond, Wayde; MacDonald, Russell D

    2011-01-01

    Drowning is a common cause of accidental death, particularly in younger people, and acute respiratory failure is common in these patients. This case report describes a healthy 18-year-old man who suffered a cardiorespiratory arrest due to submersion while swimming in a freshwater lake. First-responder cardiopulmonary resuscitation and defibrillation using an automated external defibrillator resulted in a return of spontaneous circulation. The patient was evacuated to a tertiary care center by a rotor-wing air medical crew. The crew experienced difficulties in oxygenating and ventilating the patient because of early-onset acute respiratory distress syndrome (ARDS). This case report describes the pathophysiology and prehospital management of a patient with suspected early-onset ARDS secondary to drowning. This case report is unique because it describes the oxygenation and ventilation difficulties encountered in managing this patient in the transport setting, and possible strategies to deal with these difficulties. Finally, this case report highlights the prehospital bypass decision-making process for patients requiring specialized medical care.

  18. 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.

  19. [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.

  20. Androgen receptor CAG polymorphism and sporadic and early-onset prostate cancer among Mexican men.

    Science.gov (United States)

    Gómez, Rocío; Torres-Sánchez, Luisa; Camacho-Mejorado, Rafael; Burguete-García, Ana I; Vázquez-Salas, Ruth Argelia; Martínez-Nava, Gabriela A; Santana, Carla; Noris, Gino

    2016-09-01

    A short CAG repeat length in the gene encoding for the androgen receptor (AR) has been associated with prostate cancer (PC) risk and aggressiveness. In Latino men, information on this association is scarce. Hence, the aim of this study was to evaluate this association in Mexican males. Using fragment analysis by capillary electrophoresis, we determined the number of CAG repeats-(CAG)n-in AR gene from 158 incident PC cases and 326 age-matched healthy controls (±5 years), residing in Mexico City, Mexico. According to Gleason scale and age at diagnosis, cases were classified as high (⩾7) and low grade (CAG repeat length than controls (18.6±2.2 vs 19.5±2.5; P=0.02). Lower number of CAG repeats (CAG)⩽19 were associated with a greater risk for early-onset PC (odds ratio: 2.31; 95% confidence interval: 1.14-4.69). CAG repeat length could increase the risk for sporadic and early-onset PC. The best cutoff point for identifying at-risk subjects was (CAG)19. However, further studies are necessary to replicate our findings in subjects with a family history of PC and also to evaluate the association between CAG repeats length and disease progression.

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

    Science.gov (United States)

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

    2009-11-01

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

  2. 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.

  3. Relationship between renal histology and plasma antithrombin III activity in women with early onset preeclampsia.

    Science.gov (United States)

    Weiner, C P; Bonsib, S M

    1990-04-01

    Renal biopsy was performed in 12 women with the clinical diagnosis of severe, early-onset preeclampsia at the time of cesarean delivery for the express purpose of aiding future counseling on the risk of recurrence. The mean gestation at delivery was 30 +/- 3 weeks. The mean birthweight was 1090 +/- 505 gm. Four women (33%) were multiparous. Antithrombin III activity was determined immediately prior to delivery unrelated to clinical care and as part of other protocols. The biopsy was performed without difficulty in each, although the sample was inadequate in one patient. The clinical diagnosis of preeclampsia was confirmed in nine (82%). However, three of the nine had underlying renal disease, as did the two women without histologic evidence of preeclampsia (42% of the total). Correlations between laboratory parameters with the histopathologic diagnoses were sought. Neither uric acid, creatinine, blood urea nitrogen, platelet count, or 24-hour urinary protein measurements aided the differentiation of the various subgroups. Antithrombin III activity in women with biopsy-supported preeclampsia (77% +/- 12%) was significantly lower than that in women without histologic evidence of preeclampsia (116% +/- 8%). Antithrombin III activity correctly predicted biopsy findings in at least 9 of 11 (82%). These preliminary findings confirm the high frequency of underlying disease in women with early-onset preeclampsia. Although low antithrombin III activity does not differentiate between "pure" preeclampsia and superimposed disease, a normal antithrombin III activity is reassuring and more consistent with a nonpreeclamptic renal complication than with preeclampsia.

  4. Effects of nicotine chewing gum on UPDRS score and P300 in early-onset parkinsonism.

    Science.gov (United States)

    Mitsuoka, Takako; Kaseda, Yumiko; Yamashita, Hiroshi; Kohriyama, Tatsuo; Kawakami, Hideshi; Nakamura, Shigenobu; Yamamura, Yasuhiro

    2002-03-01

    It has been reported that nicotine shows some beneficial effects on Parkinson's disease. The purpose of the present study is to assess the therapeutic effects of nicotine chewing gum in patients with early-onset parkinsonism (EOP). The subjects were 8 patients with early-onset parkinsonism (male/female = 4/4, mean age; 51.3 years). Four out of 8 patients had a history of smoking (smokers). To estimate the effects of nicotine gum, the scores on the Unified Parkinson's Disease Rating Scale (UPDRS) and auditory event-related potentials (ERPs) were studied before and after taking nicotine gum in the EOP patients. In smokers, UPDRS scores improved by more than 10% and the P300 latency of auditory ERPs was shortened by more than 30 msec. In contrast, nicotine had no remarkable effects on UPDRS scores or auditory ERPs in non-smokers. We suggest that nicotine chewing gum may be a possible choice for the treatment of patients with EOP, especially when they are smokers.

  5. 早发与晚发型重度子痫前期对围产儿结局影响%Impacts of early onset and late onset severe preeclampsia on perinatal outcome

    Institute of Scientific and Technical Information of China (English)

    金莉娅; 李慧敏; 何晓春

    2011-01-01

    Objective To investigate impacts of early onset severe preeclampsia (EOSP) and late onset sever preeclampsia (LOSP) on maternal and neonatal outcomes. Methods 32 pregnant women with EOSP who were treated in our hospital in a period from October, 2008 to October, 2009 were clinically followed-up for their perinatal outcome and prognosis. 45 pregnant women with LOSP were selected randomly in the same period. The perinatal outcomes of pregnant women in the two groups were compared. Results As compared with LOSP group, rates of cesarean section, amniotic fluid contamination, neonatal asphyxia and neonatal mortality in EOSP group were significantly higher (x2 = 8. 342, 6. 301, 9.692, 12.485 respectively, all P < 0.05 ). And incidence rates of gestational age at delivery and low birth weight infants in EOSP group were significantly higher than those in LOSP group (t = -3. 559, -7. 077 respectively, both P < 0.05 ). Conclusion For SP pregnant women, the smaller the gestational age, the higher the incidence rates of fetal distress, neonatal asphyxia, perineonatal mortality and premature delivery. Under promise of ensuring mother' s safety, prolonging the gestational age as possible can greatly improve periprenatal outcome and neonatal survival rate.%目的 探讨早发型重度子痫前期与晚发型重度子痫前期对围产儿的影响.方法 选择2008年10月~2009年10月在甘肃省妇幼保健院治疗的早发型重度子痫前期孕妇32例,随访其围产儿的临床结局和预后,与同期随机选取的45例晚发型重度子痫前期孕妇的围产儿结局进行比较.结果 早发型重度子痫前期组的剖宫产率、羊水污染率、新生儿窒息率、围产儿死亡率与晚发型重度子痫前期组比较,差异均有统计学意义(χ2分别为8.342、6.301、9.692、12.485,均P<0.05);早发型重度子痫前期组的分娩孕周和出生体重与晚发型重度子痫前期组比较,差异亦均有统计学意义(t分别为-3.559、-7

  6. Parabens inhibit the early phase of folliculogenesis and steroidogenesis in the ovaries of neonatal rats.

    Science.gov (United States)

    Ahn, Hyo-Jin; An, Beum-Soo; Jung, Eui-Man; Yang, Hyun; Choi, Kyung-Chul; Jeung, Eui-Bae

    2012-09-01

    Parabens are widely used as anti-microbial agents in the cosmetic and pharmaceutical industries. Recently, parabens have been shown to act as xenoestrogens, a class of endocrine disruptors. In the present study, 55 female pups were given daily subcutaneous injections of methyl-, propyl-, and butyl-paraben or 17beta-estradiol (E2) during neonatal Day 1-7. The ovaries were excised on postnatal Day 8, then fixed and stained with hematoxylin and eosin for histological analysis. The follicles were counted and classified as being in the primordial, early primary, or primary stages. The number of primordial follicles increased while early primary follicles decreased at the high doses of propyl- and butyl-paraben. The levels of anti-Mullerian hormone (AMH) and Foxl2 mRNA increased by propyl- and butyl-parabens whereas kit ligand/stem cell factor (KITL) expression was up regulated only by butyl-paraben. The mRNA levels of StAR and Cyp11a1 were significantly decreased after treatment with methyl-, propyl-, and butyl-parabens. Consistent with its use as a positive control, E2 regulated the expression of KITL, StAR, and Cyp11a1 genes, but surprisingly did not affect AMH and Foxl2 levels. Thus, E2 and parabens had different effects on the regulation of folliculogenic and steroidogenic genes, demonstrating the estrogenic and nonestrogenic properties of parabens in the ovary. Taken together, our data show that parabens stimulated AMH mRNA expression and consequently inhibited the early phase of folliculogenesis in the ovaries of neonatal female rat. The levels of steroidogenic enzymes, indicators of follicle differentiation, appeared to be regulated by parabens through inhibition of their transcriptional repressor, Foxl2. Copyright © 2012 Wiley Periodicals, Inc.

  7. Hepatocyte nuclear factor 1-alpha mutation in normal glucose-tolerant subjects and early-onset type 2 diabetic patients.

    Science.gov (United States)

    Lim, Dong Mee; Huh, Nam; Park, Keun Yong

    2008-12-01

    The prevalence of diabetes in Korea is reported to be approximately 10%, but cases of maturity-onset diabetes of the young (MODY) are rare in Korea. A diagnostic technique for autosomal dominant MODY is being actively sought. In this regard, we used a DNA chip to investigate the frequency of mutations of the MODY3 gene (hepatocyte nuclear factor-1alpha) in Korean patients with early-onset type 2 diabetes. The genomic DNA of 30 normal individuals [age, 24.9+/-8.6 years] and 25 patients with early-onset type 2 diabetes (age, 27+/-5.9 years) was extracted, and the MODY3 gene was amplified. The amplified DNA was hybridized onto a MODY3 chip, which has oligonucleotides of 15-25 bases, representing wild-type and mutant MODY3 sequences in both forward and reverse orientations, immobilized on its surface. Among the normal subjects, there was no mutation of MODY3. Among those with early-onset type 2 diabetes, there was one case of MODY3 mutation. Our results indicate that MODY3 mutations are not rare in Korean early-onset type 2 diabetes patients in Korea and suggest that MODY3 mutations in patients with early-onset type 2 diabetes need to be further evaluated.

  8. Haemophilus influenzae: a forgotten cause of neonatal sepsis?

    Science.gov (United States)

    Dobbelaere, A; Jeannin, P; Bovyn, T; Ide, L

    2015-06-01

    Due to the introduction of the conjugate vaccine against serotype b, neonatal sepsis caused by Haemophilus influenzae became very rare. There is little data in Belgium concerning the prevalence of H. influenzae early onset neonatal sepsis and articles about neonatal sepsis and H. influenzae published in the last decade are scarce. We report two invasive infections with a non-typeable H. influenzae. These cases show that neonatal sepsis caused by non-typeable H. influenzae may be underestimated and we believe that there is need for a better registration of this kind of infection.

  9. Antimicrobial Protein and Peptide Concentrations and Activity in Human Breast Milk Consumed by Preterm Infants at Risk of Late-Onset Neonatal Sepsis

    Science.gov (United States)

    Trend, Stephanie; Strunk, Tobias; Hibbert, Julie; Kok, Chooi Heen; Zhang, Guicheng; Doherty, Dorota A.; Richmond, Peter; Burgner, David; Simmer, Karen; Davidson, Donald J.; Currie, Andrew J.

    2015-01-01

    Objective We investigated the levels and antimicrobial activity of antimicrobial proteins and peptides (AMPs) in breast milk consumed by preterm infants, and whether deficiencies of these factors were associated with late-onset neonatal sepsis (LOS), a bacterial infection that frequently occurs in preterm infants in the neonatal period. Study design Breast milk from mothers of preterm infants (≤32 weeks gestation) was collected on days 7 (n = 88) and 21 (n = 77) postpartum. Concentrations of lactoferrin, LL-37, beta-defensins 1 and 2, and alpha-defensin 5 were measured by enzyme-linked immunosorbent assay. The antimicrobial activity of breast milk samples against Staphylococcus epidermidis, Staphylococcus aureus, Escherichia coli, and Streptococcus agalactiae was compared to the activity of infant formula, alone or supplemented with physiological levels of AMPs. Samples of breast milk fed to infants with and without subsequent LOS were compared for levels of AMPs and inhibition of bacterial growth. Results Levels of most AMPs and antibacterial activity in preterm breast milk were higher at day 7 than at day 21. Lactoferrin was the only AMP that limited pathogen growth >50% when added to formula at a concentration equivalent to that present in breast milk. Levels of AMPs were similar in the breast milk fed to infants with and without LOS, however, infants who developed LOS consumed significantly less breast milk and lower doses of milk AMPs than those who were free from LOS. Conclusions The concentrations of lactoferrin and defensins in preterm breast milk have antimicrobial activity against common neonatal pathogens. PMID:25643281

  10. Antimicrobial protein and Peptide concentrations and activity in human breast milk consumed by preterm infants at risk of late-onset neonatal sepsis.

    Directory of Open Access Journals (Sweden)

    Stephanie Trend

    Full Text Available OBJECTIVE: We investigated the levels and antimicrobial activity of antimicrobial proteins and peptides (AMPs in breast milk consumed by preterm infants, and whether deficiencies of these factors were associated with late-onset neonatal sepsis (LOS, a bacterial infection that frequently occurs in preterm infants in the neonatal period. STUDY DESIGN: Breast milk from mothers of preterm infants (≤ 32 weeks gestation was collected on days 7 (n = 88 and 21 (n = 77 postpartum. Concentrations of lactoferrin, LL-37, beta-defensins 1 and 2, and alpha-defensin 5 were measured by enzyme-linked immunosorbent assay. The antimicrobial activity of breast milk samples against Staphylococcus epidermidis, Staphylococcus aureus, Escherichia coli, and Streptococcus agalactiae was compared to the activity of infant formula, alone or supplemented with physiological levels of AMPs. Samples of breast milk fed to infants with and without subsequent LOS were compared for levels of AMPs and inhibition of bacterial growth. RESULTS: Levels of most AMPs and antibacterial activity in preterm breast milk were higher at day 7 than at day 21. Lactoferrin was the only AMP that limited pathogen growth >50% when added to formula at a concentration equivalent to that present in breast milk. Levels of AMPs were similar in the breast milk fed to infants with and without LOS, however, infants who developed LOS consumed significantly less breast milk and lower doses of milk AMPs than those who were free from LOS. CONCLUSIONS: The concentrations of lactoferrin and defensins in preterm breast milk have antimicrobial activity against common neonatal pathogens.

  11. Impact of neonatal intensive care bed configuration on rates of late-onset bacterial sepsis and methicillin-resistant Staphylococcus aureus colonization.

    Science.gov (United States)

    Julian, Samuel; Burnham, Carey-Ann D; Sellenriek, Patricia; Shannon, William D; Hamvas, Aaron; Tarr, Phillip I; Warner, Barbara B

    2015-10-01

    Infections cause morbidity and mortality in neonatal intensive care units (NICUs). The association between nursery design and nosocomial infections is unclear. To determine whether rates of colonization by methicillin-resistant Staphylococcus aureus (MRSA), late-onset sepsis, and mortality are reduced in single-patient rooms. DESIGN Retrospective cohort study. NICU in a tertiary referral center. Our NICU is organized into single-patient and open-unit rooms. Clinical data sets including bed location and microbiology results were examined over 29 months. Differences in outcomes between bed configurations were determined by χ2 and Cox regression. All NICU patients. Among 1,823 patients representing 55,166 patient-days, single-patient and open-unit models had similar incidences of MRSA colonization and MRSA colonization-free survival times. Average daily census was associated with MRSA colonization rates only in single-patient rooms (hazard ratio, 1.31; P=.039), whereas hand hygiene compliance on room entry and exit was associated with lower colonization rates independent of bed configuration (hazard ratios, 0.834 and 0.719 per 1% higher compliance, respectively). Late-onset sepsis rates were similar in single-patient and open-unit models as were sepsis-free survival and the combined outcome of sepsis or death. After controlling for demographic, clinical, and unit-based variables, multivariate Cox regression demonstrated that bed configuration had no effect on MRSA colonization, late-onset sepsis, or mortality. MRSA colonization rate was impacted by hand hygiene compliance, regardless of room configuration, whereas average daily census affected only infants in single-patient rooms. Single-patient rooms did not reduce the rates of MRSA colonization, late-onset sepsis, or death.

  12. Impact of neonatal intensive care bed configuration on rates of late-onset bacterial sepsis and methicillin-resistant Staphylococcus aureus colonization

    Science.gov (United States)

    Julian, Samuel; Burnham, Carey-Ann D.; Sellenriek, Patricia; Shannon, William D.; Hamvas, Aaron; Tarr, Phillip I.; Warner, Barbara B.

    2016-01-01

    Objectives Infections cause significant morbidity and mortality in neonatal intensive care units (NICUs). The association between nursery design and nosocomial infections has not been delineated. We hypothesized that rates of colonization by methicillin-resistant Staphylococcus aureus (MRSA), late-onset sepsis, and mortality are reduced in single-patient rooms. Design Retrospective cohort study. Setting NICU in a tertiary referral center. Methods Our NICU is organized into single-patient and open-unit rooms. Clinical datasets including bed location and microbiology results were examined over a 29-month period. Differences in outcomes between bed configurations were determined by Chi-square and Cox regression. Patients All NICU patients. Results Among 1823 patients representing 55,166 patient-days, single-patient and open-unit models had similar incidences of MRSA colonization and MRSA colonization-free survival times. Average daily census was associated with MRSA colonization rates only in single-patient rooms (hazard ratio 1.31, p=0.039), while hand hygiene compliance on room entry and exit was associated with lower colonization rates independent of bed configuration (hazard ratios 0.834 and 0.719 per 1% higher compliance, respectively). Late-onset sepsis rates were similar in single-patient and open-unit models as were sepsis-free survival and the combined outcome of sepsis or death. After controlling for demographic, clinical and unit-based variables, multivariate Cox regression demonstrated that bed configuration had no effect on MRSA colonization, late-onset sepsis, or mortality. Conclusions MRSA colonization rate was impacted by hand hygiene compliance, regardless of room configuration, while average daily census only affected infants in single-patient rooms. Single-patient rooms did not reduce the rates of MRSA colonization, late-onset sepsis or death. PMID:26108888

  13. 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

  14. Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections.

    Science.gov (United States)

    Dobbs, Kerry; Domínguez Conde, Cecilia; Zhang, Shen-Ying; Parolini, Silvia; Audry, Magali; Chou, Janet; Haapaniemi, Emma; Keles, Sevgi; Bilic, Ivan; Okada, Satoshi; Massaad, Michel J; Rounioja, Samuli; Alwahadneh, Adel M; Serwas, Nina K; Capuder, Kelly; Çiftçi, Ergin; Felgentreff, Kerstin; Ohsumi, Toshiro K; Pedergnana, Vincent; Boisson, Bertrand; Haskoloğlu, Şule; Ensari, Arzu; Schuster, Michael; Moretta, Alessandro; Itan, Yuval; Patrizi, Ornella; Rozenberg, Flore; Lebon, Pierre; Saarela, Janna; Knip, Mikael; Petrovski, Slavé; Goldstein, David B; Parrott, Roberta E; Savas, Berna; Schambach, Axel; Tabellini, Giovanna; Bock, Christoph; Chatila, Talal A; Comeau, Anne Marie; Geha, Raif S; Abel, Laurent; Buckley, Rebecca H; İkincioğulları, Aydan; Al-Herz, Waleed; Helminen, Merja; Doğu, Figen; Casanova, Jean-Laurent; Boztuğ, Kaan; Notarangelo, Luigi D

    2015-06-18

    Background Combined immunodeficiencies are marked by inborn errors of T-cell immunity in which the T cells that are present are quantitatively or functionally deficient. Impaired humoral immunity is also common. Patients have severe infections, autoimmunity, or both. The specific molecular, cellular, and clinical features of many types of combined immunodeficiencies remain unknown. Methods We performed genetic and cellular immunologic studies involving five unrelated children with early-onset invasive bacterial and viral infections, lymphopenia, and defective T-cell, B-cell, and natural killer (NK)-cell responses. Two patients died early in childhood; after allogeneic hematopoietic stem-cell transplantation, the other three had normalization of T-cell function and clinical improvement. Results We identified biallelic mutations in the dedicator of cytokinesis 2 gene (DOCK2) in these five patients. RAC1 activation was impaired in the T cells. Chemokine-induced migration and actin polymerization were defective in the T cells, B cells, and NK cells. NK-cell degranulation was also affected. Interferon-α and interferon-λ production by peripheral-blood mononuclear cells was diminished after viral infection. Moreover, in DOCK2-deficient fibroblasts, viral replication was increased and virus-induced cell death was enhanced; these conditions were normalized by treatment with interferon alfa-2b or after expression of wild-type DOCK2. Conclusions Autosomal recessive DOCK2 deficiency is a new mendelian disorder with pleiotropic defects of hematopoietic and nonhematopoietic immunity. Children with clinical features of combined immunodeficiencies, especially with early-onset, invasive infections, may have this condition. (Supported by the National Institutes of Health and others.).

  15. Risk factors for adverse fetal outcomes among women with early- versus late-onset intrahepatic cholestasis of pregnancy.

    Science.gov (United States)

    Jin, Jin; Pan, Shi-lei; Huang, Li-ping; Yu, Yan-hong; Zhong, Mei; Zhang, Guo-wei

    2015-03-01

    To determine risk factors for adverse fetal outcomes (AFOs) among women with intrahepatic cholestasis of pregnancy (ICP) on the basis of time of onset. In a retrospective analysis, data were obtained for all women with ICP admitted to two centers in Guangzhou, China, between February 1, 1993, and January 31, 2014. Patients were divided into group A (early-onset ICP) and group B (late-onset ICP), and were further divided on the basis of severity. The frequency of AFOs was assessed. Among 371 eligible women, 57 (15.4%) were in group A and 314 (84.6%) in group B. AFOs affected 20 (35.1%) women in group A and 67 (21.3%) in group B (P=0.024), and 12 (54.5%) of 22 women in group A and 21 (29.6%) of 71 in group B with severe ICP (P=0.032). Independent risk factors for AFO in group A were increased levels of serum bile acid (P=0.016) and alkaline phosphatase (P=0.004). Independent risk factors in group B were increased levels of alkaline phosphatase (P<0.001) and gamma-glutamyl transpeptidase (P=0.001). Early-onset ICP is associated with a higher frequency of AFO than is late-onset ICP, especially in severe disease. The risk factors differ between early-onset and late-onset ICP. Copyright © 2014 International Federation of Gynecology and Obstetrics. Published by Elsevier Ireland Ltd. All rights reserved.

  16. Ultrasonographic assessment of cervical length in pregnancies scheduled for a cesarean delivery: prediction of early spontaneous onset of labor.

    Science.gov (United States)

    Rizzo, Giuseppe; Aiello, Elisa; Pietrolucci, Maria Elena; Arduini, Domenico

    2016-10-01

    To investigate whether the cervical length measured by transvaginal ultrasound at 35 to 36 weeks of gestation is predictive of spontaneous early onset of labor in pregnancies scheduled for elective cesarean section (CS). This was a prospective observational study on 167 women scheduled for elective CS at 39 weeks of gestation. The cervical length was measured ultrasonographycally at 35 to 36 weeks of gestation and the pregnancies characteristics were recorded. The presence or absence of spontaneous onset of labor before the time scheduled for elective CS was related to cervical length and pregnancies characteristics. Of the 167 pregnancies enrolled, 25 (14.97%) underwent early spontaneous onset of labor before the time scheduled for the elective CS. The cervical length was significantly shorter in these women when compared with those delivering with an elective CS (21 vs. 30 mm z=5.49 Ponset of labor in univariate analysis (P=0.01). Multivariate logistic regression analysis showed that cervical length (adjusted odds ratio 1.40; 95% confidence interval (CI) 1.22-1.61; P≤0.0001) was the only predictor for the early onset of labor. The area under the receiver-operating characteristics curve for the prediction of early onset of labor was 0.844 (95% CI 0.738-0.950) for cervical length as test variable. Kaplan-Meier analysis demonstrated that a cervical length onset of labor in pregnancies scheduled for CS and may be useful in individualizing the gestational age for elective CS.

  17. Neonatal infectious diseases: evaluation of neonatal sepsis.

    Science.gov (United States)

    Camacho-Gonzalez, Andres; Spearman, Paul W; Stoll, Barbara J

    2013-04-01

    Neonatal sepsis remains a feared cause of morbidity and mortality in the neonatal period. Maternal, neonatal, and environmental factors are associated with risk of infection, and a combination of prevention strategies, judicious neonatal evaluation, and early initiation of therapy are required to prevent adverse outcomes. This article reviews recent trends in epidemiology and provides an update on risk factors, diagnostic methods, and management of neonatal sepsis. Copyright © 2013 Elsevier Inc. All rights reserved.

  18. The predictive value of early behavioural assessments in pet dogs--a longitudinal study from neonates to adults.

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    Stefanie Riemer

    Full Text Available Studies on behavioural development in domestic dogs are of relevance for matching puppies with the right families, identifying predispositions for behavioural problems at an early stage, and predicting suitability for service dog work, police or military service. The literature is, however, inconsistent regarding the predictive value of tests performed during the socialisation period. Additionally, some practitioners use tests with neonates to complement later assessments for selecting puppies as working dogs, but these have not been validated. We here present longitudinal data on a cohort of Border collies, followed up from neonate age until adulthood. A neonate test was conducted with 99 Border collie puppies aged 2-10 days to assess activity, vocalisations when isolated and sucking force. At the age of 40-50 days, 134 puppies (including 93 tested as neonates were tested in a puppy test at their breeders' homes. All dogs were adopted as pet dogs and 50 of them participated in a behavioural test at the age of 1.5 to 2 years with their owners. Linear mixed models found little correspondence between individuals' behaviour in the neonate, puppy and adult test. Exploratory activity was the only behaviour that was significantly correlated between the puppy and the adult test. We conclude that the predictive validity of early tests for predicting specific behavioural traits in adult pet dogs is limited.

  19. Early environmental enrichment affects neurobehavioral development and prevents brain damage in rats submitted to neonatal hypoxia-ischemia.

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    Schuch, Clarissa Pedrini; Diaz, Ramiro; Deckmann, Iohanna; Rojas, Joseane Jiménez; Deniz, Bruna Ferrary; Pereira, Lenir Orlandi

    2016-03-23

    Our previous results demonstrated improved cognition in adolescent rats housed in environmental enrichment (EE) that underwent neonatal hypoxia-ischemia (HI). The aim of this study was to investigate the effects of early EE on neurobehavioral development and brain damage in rats submitted to neonatal HI. Wistar rats were submitted to the HI procedure on the 7th postnatal day (PND) and housed in an enriched environment (8th-20th PND). The maturation of physical characteristics and the neurological reflexes were evaluated and the volume of striatum, corpus callosum and neocortex was measured. Data analysis demonstrated a clear effect of EE on neurobehavioral development; also, daily performance was improved in enriched rats on righting, negative geotaxis and cliff aversion reflex. HI caused a transient motor deficit on gait latency. Brain atrophy was found in HI animals and this damage was partially prevented by the EE. In conclusion, early EE stimulated neurobehavioral development in neonate rats and also protects the neocortex and the corpus callosum from atrophy following HI. These findings reinforce the potential of EE as a strategy for rehabilitation following neonatal HI and provide scientific support to the use of this therapeutic strategy in the treatment of neonatal brain injuries in humans.

  20. Alcohol use in motion pictures and its relation with early-onset teen drinking.

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    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

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

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    Clemmensen Lars

    2012-09-01

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

  2. Comprehensive mutation screening for 10 genes in Chinese patients suffering very early onset inflammatory bowel disease

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    Xiao, Yuan; Wang, Xin-Qiong; Yu, Yi; Guo, Yan; Xu, Xu; Gong, Ling; Zhou, Tong; Li, Xiao-Qin; Xu, Chun-Di

    2016-01-01

    AIM: To perform sequencing analysis in patients with very early-onset inflammatory bowel disease (VEO-IBD) to determine the genetic basis for VEO-IBD in Chinese pediatric patients. METHODS: A total of 13 Chinese pediatric patients with VEO-IBD were diagnosed from May 2012 and August 2014. The relevant clinical characteristics of these patients were analyzed. Then DNA in the peripheral blood from patients was extracted. Next generation sequencing (NGS) based on an Illumina-Miseq platform was used to analyze the exons in the coding regions of 10 candidate genes: IL-10, IL-10RA, IL-10RB, NOD2, FUT2, IL23R, GPR35, GPR65, TNFSF15, and ADAM30. The Sanger sequencing was used to verify the variations detected in NGS. RESULTS: Out of the 13 pediatric patients, ten were diagnosed with Crohn’s disease, and three diagnosed with ulcerative colitis. Mutations in IL-10RA and IL-10RB were detected in five patients. There were four patients who had single nucleotide polymorphisms associated with IBD. Two patients had IL-10RA and FUT2 polymorphisms, and two patients had IL-10RB and FUT2 polymorphisms. Gene variations were not found in the rest four patients. Children with mutations had lower percentile body weight (1.0% vs 27.5%, P = 0.002) and hemoglobin (87.4 g/L vs 108.5 g/L, P = 0.040) when compared with children without mutations. Although the age of onset was earlier, height was shorter, and the response to treatment was poorer in the mutation group, there was no significant difference in these factors between groups. CONCLUSION: IL-10RA and IL-10RB mutations are common in Chinese children with VEO-IBD. Patients with mutations have an earlier disease onset, lower body weight and hemoglobin, and poorer prognosis. PMID:27350736

  3. Adaptive behavior and later school achievement in children with early-onset epilepsy.

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    Berg, Anne T; Caplan, Rochelle; Baca, Christine B; Vickrey, Barbara G

    2013-07-01

    To determine whether early measures of adaptive behavior are predictive of later school difficulties and achievement in otherwise neurotypical (unimpaired) children with onset of epilepsy during the preschool years. In a prospective cohort study, parents completed the Vineland Adaptive Behavior Scales (VABS) for children who were aged 5 years or less at epilepsy diagnosis. Eight to 9 years later, the children were assessed using the Wechsler Intelligence Scales for Children (WISC), the Wide Range Achievement Test (WRAT), and the Child Behavior Checklist (CBCL). Associations of VABS scores with later WRAT and CBCL scores were tested. A total of 108 neurotypical children (64 males, 44 females; mean age at testing 11 y 11 mo, SD 2 y) were studied. After adjustment for IQ and other factors, there was an increase of 0.15 points (95% confidence interval [CI] 0.03-0.27 points; p=0.03) and 0.14 points (95% CI 0.0-0.28 points; p=0.05) in WRAT reading and spelling scores for each 1-point increment in the VABS communication score. Corresponding numbers for the VABS socialization score were 0.20 (95% CI 0.08-0.32; p=0.005) and 0.17 (95% CI 0.05-0.29; p=0.005). In neurotypical preschool children with epilepsy, early social and communication scores predict later school performance. These findings raise questions about opportunities for early identification and intervention for children at greatest risk. © 2013 Mac Keith Press.

  4. Glucose-6-Phosphate Dehydrogenase Deficiency and Adrenal Hemorrhage in a Filipino Neonate with Hyperbilirubinemia

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    Akira Ohishi

    2013-05-01

    Full Text Available We report on a Filipino neonate with early onset and prolonged hyperbilirubinemia who was delivered by a vacuum extraction due to a prolonged labor. Subsequent studies revealed adrenal hemorrhage and glucose-6-phosphate dehydrogenase (G6PD deficiency. It is likely that asphyxia and resultant hypoxia underlie the occurrence of adrenal hemorrhage and the clinical manifestation of G6PD deficiency and that the presence of the two events explains the early onset and prolonged hyperbilirubinemia of this neonate. Our results represent the importance of examining possible underlying factors for the development of severe, early onset, or prolonged hyperbilirubinemia.

  5. Frequency of LRRK2 mutations in early- and late-onset Parkinson disease.

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    Clark, L N; Wang, Y; Karlins, E; Saito, L; Mejia-Santana, H; Harris, J; Louis, E D; Cote, L J; Andrews, H; Fahn, S; Waters, C; Ford, B; Frucht, S; Ottman, R; Marder, K

    2006-11-28

    To evaluate the frequency of leucine-rich repeat kinase gene (LRRK2) mutations and single nucleotide polymorphisms (SNPs) in early-onset Parkinson disease (EOPD) and late-onset Parkinson disease (LOPD). We genotyped five previously reported LRRK2 mutations (G2019S, L1114L, I1122V, R1441C, and Y1699C) and 17 coding SNPs for haplotype analysis in 504 cases with PD and 314 controls enrolled in the Genetic Epidemiology of PD Study. Cases and controls were recruited without knowledge of family history of PD and cases were oversampled in the 50 (p = 0.56). All cases with PD with the G2019S mutation shared the same disease-associated haplotype. The frequency of the LRRK2 G2019S mutation was higher in the subset of 181 cases reporting four Jewish grandparents (9.9%) than in other cases (3.1%) (p Parkinson disease and confirms the previous report of a greater frequency of the G2019S mutation in Jewish than in non-Jewish cases with Parkinson disease.

  6. Case-control study of severe pre-eclampsia of early onset.

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