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1.
BMC Med Genet ; 21(1): 68, 2020 03 31.
Artigo em Inglês | MEDLINE | ID: mdl-32234020

RESUMO

BACKGROUND: The TWNK gene encodes the twinkle protein, which is a mitochondrial helicase for DNA replication. The dominant TWNK variants cause progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, while the recessive variants cause mitochondrial DNA depletion syndrome 7 and Perrault syndrome 5. Perrault syndrome is characterized by sensorineural hearing loss in both males and females and gonadal dysfunction in females. Patients with Perrault syndrome may present early-onset cerebellar ataxia, whereas middle-age-onset cerebellar ataxia caused by TWNK variants is rare. CASE PRESENTATION: A Japanese female born to consanguineous parents presented hearing loss at age 48, a staggering gait at age 53, and numbness in her distal extremities at age 57. Neurological examination revealed sensorineural hearing loss, cerebellar ataxia, decreased deep tendon reflexes, and sensory disturbance in the distal extremities. Laboratory tests showed no abnormal findings other than a moderate elevation of pyruvate concentration levels. Brain magnetic resonance imaging revealed mild cerebellar atrophy. Using exome sequencing, we identified a homozygous TWNK variant (NM_021830: c.1358G>A, p.R453Q). CONCLUSIONS: TWNK variants could cause middle-age-onset cerebellar ataxia. Screening for TWNK variants should be considered in cases of cerebellar ataxia associated with deafness and/or peripheral neuropathy, even if the onset is not early.


Assuntos
Ataxia Cerebelar/genética , DNA Helicases/genética , Proteínas Mitocondriais/genética , Ataxia Cerebelar/complicações , Ataxia Cerebelar/diagnóstico , Consanguinidade , Feminino , Marcha Atáxica/complicações , Marcha Atáxica/diagnóstico , Marcha Atáxica/genética , Disgenesia Gonadal 46 XX/diagnóstico , Disgenesia Gonadal 46 XX/genética , Perda Auditiva/complicações , Perda Auditiva/diagnóstico , Perda Auditiva/genética , Perda Auditiva Neurossensorial/diagnóstico , Perda Auditiva Neurossensorial/genética , Homozigoto , Humanos , Japão , Transtornos de Início Tardio/diagnóstico , Transtornos de Início Tardio/genética , Pessoa de Meia-Idade , Mutação , Linhagem
3.
Doc Ophthalmol ; 139(3): 171-184, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31286363

RESUMO

PURPOSE: To report the clinical and genetic characteristics of 6 cases with late-onset night blindness with peripheral flecks accompanied by progressive trickle-like macular degeneration. METHODS: Clinical and genetic data were collected from 6 independent patients who complained of night blindness in their fifth to eighth decade of life. The ophthalmological examinations included ophthalmoscopy, fundus autofluorescence (FAF), and full-field electroretinography (ERG). Whole exome sequencing with target gene analysis was performed to determine the causative genes and variants. RESULTS: All of the patients first complained of night blindness at the ages of 40-71 years. Funduscopic examinations demonstrated white or atrophic flecks scattered in the posterior pole and peripheral retina bilaterally. FAF showed patchy hypo-autofluorescence spots in the posterior pole similar to that of the trickling type of age-related macular degeneration (AMD). The region of abnormal FAF rapidly expanded with age, and one eye developed a choroidal neovascularization. The full-field scotopic ERGs with 20 min of dark adaptation were severely reduced or extinguished in all cases. There was partial recovery of the ERGs after 180 min of dark adaptation. The cone ERGs were reduced in all cases. Whole exome sequencing revealed no pathogenic variants of 301 retinal disease-associated genes. CONCLUSIONS: The six cases had some common features with the flecked retina syndrome, familial drusen, and late-onset retinal degeneration although none had pathogenic variants causative for these disorders. These cases may represent a subset of severe trickling AMD or a new clinical entity of acquired pan-retinal visual cycle deficiency of unknown etiology.


Assuntos
Transtornos de Início Tardio/diagnóstico , Degeneração Macular/diagnóstico , Cegueira Noturna/diagnóstico , Retina/anormalidades , Idoso , Adaptação à Escuridão/fisiologia , Eletrorretinografia , Feminino , Humanos , Transtornos de Início Tardio/genética , Transtornos de Início Tardio/fisiopatologia , Degeneração Macular/genética , Degeneração Macular/fisiopatologia , Masculino , Pessoa de Meia-Idade , Cegueira Noturna/genética , Cegueira Noturna/fisiopatologia , Visão Noturna/fisiologia , Oftalmoscopia , Retina/fisiopatologia , Tomografia de Coerência Óptica , Campos Visuais/fisiologia , Sequenciamento Completo do Exoma
4.
Orphanet J Rare Dis ; 14(1): 62, 2019 03 04.
Artigo em Inglês | MEDLINE | ID: mdl-30832705

RESUMO

BACKGROUND: Late-onset Pompe disease (LOPD) is a recessive disease caused by α-glucosidase (GAA) deficiency, leading to progressive muscle weakness and/or respiratory failure in children and adults. Respiratory derangement can be the first indication of LOPD, but the diagnosis may be difficult for pneumologists. We hypothesize that assessing the GAA activity in suspected patients by a dried blood spot (DBS) may help the diagnosis of LOPD in the pneumological setting. POPULATION AND METHODS: We performed a multicenter DBS survey of patients with suspected LOPD according to a predefined clinical algorithm. From February 2015 to December 2017, 140 patients (57 ± 16 yrs., 80 males) were recruited in 19 Italian pneumological units. The DBS test was performed by a drop of blood collected on absorbent paper. Patients with GAA activity < 2.6 µmol/L/h were considered positive. A second DBS test was performed in the patients positive to the first assay. Patients testing positive at the re-test underwent a skeletal muscle biopsy to determine the GAA enzymatic activity. RESULTS: 75 recruited subjects had outpatient access, 65 subjects were admitted for an acute respiratory failure episode. Two patients tested positive in both the first and second DBS test (1.4% prevalence), and the LOPD diagnosis was confirmed through histology, with patients demonstrating a deficient GAA muscle activity (3.6 and 9.1 pmol/min/mg). A further five subjects were positive in the first DBS test but were not confirmed at re-test. The two positive cases were both diagnosed after hospitalization for acute respiratory failure and need of noninvasive ventilation. Most of the recruited patients had reduced maximal respiratory pressures (MIP 50 ± 27% and MEP 55 ± 27% predicted), restrictive pattern (FEV1/FVC 81.3 ± 13.6) and hypoxaemia (PaO2 70.9 ± 14.5 mmHg). Respiratory symptoms were present in all the patients, but only 48.6% of them showed muscle weakness in the pelvic girdle and/or in the scapular girdle (35.7%). CONCLUSIONS: DBS GAA activity test may be a powerful screening tool among pneumologists, particularly in the acute setting. A simple clinical algorithm may aid in the selection of patients on which to administer the DBS test.


Assuntos
Teste em Amostras de Sangue Seco/normas , Doença de Depósito de Glicogênio Tipo II/complicações , Doença de Depósito de Glicogênio Tipo II/diagnóstico , Transtornos de Início Tardio/diagnóstico , Pneumopatias/complicações , Pneumologia/métodos , Adulto , Idoso , Biópsia , Diagnóstico Precoce , Feminino , Doença de Depósito de Glicogênio Tipo II/sangue , Doença de Depósito de Glicogênio Tipo II/enzimologia , Humanos , Itália , Transtornos de Início Tardio/sangue , Transtornos de Início Tardio/enzimologia , Pneumopatias/sangue , Masculino , Pessoa de Meia-Idade , Músculos/enzimologia , Músculos/cirurgia , alfa-Glucosidases/metabolismo
5.
J Clin Pathol ; 72(7): 468-472, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-30878973

RESUMO

AIMS: As of 2016, there were five patients with Pompe in Slovenia (two infantile, one childhood and two adult onset) with a prevalence of 1:400 000; however, the prevalence of late-onset Pompe disease (LOPD) in some other countries means this ratio could be an underestimate. Since an LOPD muscle biopsy could be unspecific or even normal, the purpose of this study is to assess the prevalence of LOPD in patients with non-diagnostic muscle biopsies. METHODS: Six hundred biopsies were recorded at the Neuromuscular Tissue Bank of the University of Ljubljana for the period 2004-2014. All adult patients with non-diagnostic muscle biopsies were invited to the National Slovenian Neuromuscular Centre for dried blood spot testing for LOPD. RESULTS: A total of 90 patients (56% of those invited) responded. No patient with LOPD was found. A total of 49 patients (54%) had fixed muscle weakness, 31 (34%) had mild symptoms and no weakness and 10 (11%) had asymptomatic hyperCKemia. Ventilatory insufficiency associated with proximal muscle weakness was found in two patients (2%). No patients exhibited vacuolar myopathy, globular accumulations of glycogen or regions of increased acid phosphatase activity within the sarcoplasm. CONCLUSIONS: The study results do not support the hypothesis that LOPD is underestimated in Slovenian patients with non-diagnostic muscle biopsies; this could be consistent with the fact that LOPD is of low prevalence in Slovenia, as is the case in the populations of Finland, French-speaking Belgium, west Sweden and west Denmark.


Assuntos
Doença de Depósito de Glicogênio Tipo II/diagnóstico , Transtornos de Início Tardio/diagnóstico , Doenças por Armazenamento dos Lisossomos/diagnóstico , Doenças Musculares/diagnóstico , Adulto , Idoso , Biópsia , Feminino , Doença de Depósito de Glicogênio Tipo II/enzimologia , Doença de Depósito de Glicogênio Tipo II/patologia , Humanos , Transtornos de Início Tardio/patologia , Doenças por Armazenamento dos Lisossomos/epidemiologia , Doenças por Armazenamento dos Lisossomos/patologia , Masculino , Programas de Rastreamento , Pessoa de Meia-Idade , Doenças Musculares/epidemiologia , Doenças Musculares/patologia , Prevalência , Estudos Prospectivos , Eslovênia/epidemiologia , Adulto Jovem
6.
Trop Doct ; 49(2): 138-141, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30739552

RESUMO

With increasing use of ultrasound screening, the prenatal diagnosis of congenital diaphragmatic hernia (CDH) in better resourced areas has become the norm. However, early diagnosis is still not universal in resource-poor settings and late presentations of CDH continue. We retrospectively analysed the medical records of children operated for late-presenting CDH from 2001 to 2016 at our tertiary care centre in North India. A total of 32 patients were operated during the period with a male-to-female ratio of 3:1. Of these, 78% presented with respiratory symptoms, 37% with recurrent vomiting and 18% with an acute abdomen. Nine (28%) had been treated erroneously for gastroenteritis and another six (18%) had received anti-tubercular therapy for variable periods. A plain chest radiograph with a Ryle's tube in situ was confirmatory in 75% (24/32). In conclusion, initial misdiagnosis and subsequent unnecessary therapeutic interventions were the leading cause of morbidity .


Assuntos
Hérnias Diafragmáticas Congênitas/diagnóstico , Transtornos de Início Tardio/diagnóstico , Adolescente , Criança , Pré-Escolar , Erros de Diagnóstico , Feminino , Hérnias Diafragmáticas Congênitas/complicações , Hérnias Diafragmáticas Congênitas/patologia , Hérnias Diafragmáticas Congênitas/cirurgia , Humanos , Índia , Lactente , Laparotomia , Transtornos de Início Tardio/complicações , Transtornos de Início Tardio/patologia , Transtornos de Início Tardio/cirurgia , Masculino , Gravidez , Radiografia Torácica/métodos , Estudos Retrospectivos , Centros de Atenção Terciária , Resultado do Tratamento
8.
Rev Mal Respir ; 36(2): 214-218, 2019 Feb.
Artigo em Francês | MEDLINE | ID: mdl-30446182

RESUMO

INTRODUCTION: Intrathoracic textiloma is a rare complication possibly leading to misdiagnosis. It could present as haemoptysis, lung abscess, pseudo-tumour or a chronic cough. CASE REPORT: A 65-year-old patient with a history of multiple cardiac problems and needing long-term anticoagulation, complained since 2007 of recurrent haemoptysis of increasing abundance, the etiological investigation of which was negative. A thoracic CT-scan revealed a lesion in the lingula in contact with the pericardial plates of an implanted automatic defibrillator dating from 1989. In 2016, after two failures of arterial embolization, a diagnostic and therapeutic surgical exploration was undertaken on this patient who was a high operative risk. A segmental resection revealed an intra-pulmonary textiloma on pathological examination. CONCLUSION: The diagnosis of intrathoracic textiloma remains rare and its late presentation is non specific. Radiological imaging with a CT-scan and/or MRI could lead to the diagnosis. Surgery remains the reference treatment for the diagnosis and cure of intrathoracic textiloma with pathological examination, essential for confirmation. A means of prevention has to be developed because swab count is not totally reliable.


Assuntos
Corpos Estranhos/diagnóstico , Hemoptise/diagnóstico , Pulmão/patologia , Telas Cirúrgicas/efeitos adversos , Procedimentos Cirúrgicos Torácicos/efeitos adversos , Idoso , Diagnóstico Diferencial , Corpos Estranhos/complicações , Corpos Estranhos/patologia , Hemoptise/etiologia , Humanos , Transtornos de Início Tardio/diagnóstico , Transtornos de Início Tardio/etiologia , Transtornos de Início Tardio/patologia , Masculino , Fatores de Tempo
9.
Neurobiol Aging ; 73: 61-67, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30317034

RESUMO

Although amyloid pathology plays a role in epilepsy, little is known about the relationship between beta amyloid and progression to Alzheimer's disease (AD) among patients with late-onset epilepsy of unknown origin (LOEU). This multicenter, observational, prospective study enrolled 40 consecutive nondemented adults diagnosed with LOEU, together with 43 age- and sex-matched healthy controls. All patients completed neuropsychological tests, core CSF AD biomarkers assessment (Aß1-42, total tau, and phosphorylated tau), and follow-up for a mean of 3 years to verify cognitive decline. Despite age and baseline cognitive performance were similar to healthy controls, patients with LOEU had significant prevalence of CSF pathological Aß1-42 (<500 pg/mL; 37.5%), 7.5% displaying an AD-like CSF pattern. Moreover, 17.5% of patients with LOEU converted to AD dementia, versus none among healthy controls (p < 0.005). Patients with LOEU with pathological Aß1-42 had a hazard ratio 3.4 (CI 0.665-17.73) for progression to AD dementia at follow-up. Patients with LOEU have a high prevalence of abnormal CSF Aß1-42 and progression to AD dementia compared with healthy controls, and therefore should be monitored for cognitive decline.


Assuntos
Doença de Alzheimer/etiologia , Peptídeos beta-Amiloides/líquido cefalorraquidiano , Disfunção Cognitiva/etiologia , Epilepsia/complicações , Transtornos de Início Tardio/complicações , Fragmentos de Peptídeos/líquido cefalorraquidiano , Idoso , Idoso de 80 Anos ou mais , Doença de Alzheimer/diagnóstico , Biomarcadores/líquido cefalorraquidiano , Disfunção Cognitiva/líquido cefalorraquidiano , Progressão da Doença , Epilepsia/líquido cefalorraquidiano , Epilepsia/diagnóstico , Feminino , Seguimentos , Humanos , Transtornos de Início Tardio/líquido cefalorraquidiano , Transtornos de Início Tardio/diagnóstico , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Fatores de Tempo
10.
Ugeskr Laeger ; 180(39)2018 Sep 24.
Artigo em Dinamarquês | MEDLINE | ID: mdl-30274572

RESUMO

Research supports theories on valid differences between early-onset schizophrenia (EOS), which persists through life, versus late-onset schizophrenia. We differentiate between schizophrenia, late-onset schizophrenia (LOS), very late-onset schizophrenia-like psychosis (VLOSLP) and paranoid psychosis in the elderly. While LOS may resemble EOS, VLOSLP may resemble neurodegenerative disorders such as Parkinson's disease and Alzheimer's disease. In this review, a treatment guideline is proposed.


Assuntos
Transtornos de Início Tardio/diagnóstico , Transtornos Paranoides/diagnóstico , Transtornos Psicóticos/diagnóstico , Esquizofrenia/diagnóstico , Idoso , Idoso de 80 Anos ou mais , Antipsicóticos/administração & dosagem , Antipsicóticos/uso terapêutico , Doença Crônica , Feminino , Humanos , Transtornos de Início Tardio/tratamento farmacológico , Transtornos de Início Tardio/terapia , Masculino , Pessoa de Meia-Idade , Transtornos Paranoides/tratamento farmacológico , Transtornos Paranoides/terapia , Transtornos Psicóticos/tratamento farmacológico , Transtornos Psicóticos/terapia , Fatores de Risco , Esquizofrenia/tratamento farmacológico , Esquizofrenia/terapia
11.
J Fr Ophtalmol ; 41(8): e329-e340, 2018 Oct.
Artigo em Francês | MEDLINE | ID: mdl-30197188

RESUMO

We report cases of delayed, sustained elevated intraocular pressure (IOP) associated with repeated intravitreal anti-VEGF injections (IVI), which ultimately resulted in the need for filtering surgery. Two of the three cases demonstrated severe IOP elevation despite maximal medical treatment following unilateral IVI and required urgent filtering surgery. Optic nerve involvement was severe in all three cases. These intravitreal injections were performed for exudative age-related macular degeneration (AMD), and the patients did not show any sign of glaucoma or ocular hypertension prior to the initiation of treatment. Elevated IOP secondary to intravitreal steroids is a well-known side effect, as is immediate transient IOP elevation associated with anti-VEGF injection. Late, sustained IOP elevation after repeated injections of anti-VEGF, described approximately ten years ago, is often underestimated. Its incidence is estimated between 2.1 % and 13 % according to studies and increases with the number of IVI (cumulative effect). The pathophysiologic process is becoming increasingly understood, and several risk factors for this chronic IOP elevation have been identified. Most often, it is a moderate IOP elevation for which topical monotherapy is sufficient, or sometimes two, three or four medications or even selective laser trabeculoplasty (SLT). However, filtering surgery may rarely be required. Our findings illustrate a little-described phenomenon: a sudden, severe, late IOP elevation in response to anti-VEGF by an "overflow" effect, requiring urgent filtering surgery.


Assuntos
Bevacizumab/efeitos adversos , Cirurgia Filtrante , Hipertensão Ocular/induzido quimicamente , Hipertensão Ocular/cirurgia , Idoso , Idoso de 80 Anos ou mais , Bevacizumab/administração & dosagem , Feminino , Humanos , Injeções Intravítreas , Transtornos de Início Tardio/induzido quimicamente , Transtornos de Início Tardio/diagnóstico , Transtornos de Início Tardio/cirurgia , Masculino , Pessoa de Meia-Idade , Hipertensão Ocular/diagnóstico , Fator A de Crescimento do Endotélio Vascular/imunologia
12.
J Clin Psychiatry ; 79(5)2018 08 28.
Artigo em Inglês | MEDLINE | ID: mdl-30192444

RESUMO

OBJECTIVE: Late-life depression (LLD) is characterized by poor antidepressant response and cognitive dysfunction. This study examined whether transdermal nicotine benefits mood symptoms and cognitive performance in LLD. METHODS: In a 12-week open-label outpatient study conducted between November 2016 and August 2017, transdermal nicotine was given to 15 nonsmoking older adults (≥ 60 years of age). Eligible participants met DSM-IV-TR criteria for major depressive disorder with ≥ 15 on the Montgomery-Asberg Depression Rating scale (MADRS) and endorsed subjective cognitive impairment. Transdermal nicotine patches were applied daily and titrated in a rigid dose escalation strategy to a maximum dose of 21.0 mg/d, allowing dose reductions for tolerability. The primary mood outcome was MADRS change measured every 3 weeks, with response defined as ≥ 50% improvement from baseline and remission as MADRS score ≤ 8. The primary cognitive outcome was the Conners Continuous Performance Test (CPT), a test of attention. RESULTS: Robust rates of response (86.7%; 13/15 subjects) and remission (53.3%; 8/15 subjects) were observed. There was a significant decrease in MADRS scores over the study (ß = -1.51, P < .001), with improvement seen as early as 3 weeks (Bonferroni-adjusted P value = .004). We also observed improvement in apathy and rumination. We did not observe improvement on the CPT but did observe improvement in subjective cognitive performance and signals of potential drug effects on secondary cognitive measures of working memory, episodic memory, and self-referential emotional processing. Overall, transdermal nicotine was well tolerated, although 6 participants could not reach the maximum targeted dose. CONCLUSIONS: Nicotine may be a promising therapy for depressed mood and cognitive performance in LLD. A definitive placebo-controlled trial and establishment of longer-term safety are necessary before clinical usage. TRIAL REGISTRATION: ClinicalTrials.gov identifier: NCT02816138​.


Assuntos
Afeto/efeitos dos fármacos , Disfunção Cognitiva/tratamento farmacológico , Transtorno Depressivo Maior/tratamento farmacológico , Transtornos de Início Tardio/tratamento farmacológico , Nicotina/administração & dosagem , Nicotina/uso terapêutico , não Fumantes/psicologia , Administração Cutânea , Idoso , Disfunção Cognitiva/complicações , Transtorno Depressivo Maior/complicações , Transtorno Depressivo Maior/diagnóstico , Feminino , Humanos , Transtornos de Início Tardio/complicações , Transtornos de Início Tardio/diagnóstico , Masculino , Pessoa de Meia-Idade , Agonistas Nicotínicos/administração & dosagem , Agonistas Nicotínicos/uso terapêutico
14.
Br J Psychiatry ; 213(3): 526-534, 2018 09.
Artigo em Inglês | MEDLINE | ID: mdl-29957167

RESUMO

BACKGROUND: Attention-deficit hyperactivity disorder (ADHD) is associated with mental health problems and functional impairment across many domains. However, how the longitudinal course of ADHD affects later functioning remains unclear.AimsWe aimed to disentangle how ADHD developmental patterns are associated with young adult functioning. METHOD: The Environmental Risk (E-Risk) Longitudinal Twin Study is a population-based cohort of 2232 twins born in England and Wales in 1994-1995. We assessed ADHD in childhood at ages 5, 7, 10 and 12 years and in young adulthood at age 18 years. We examined three developmental patterns of ADHD from childhood to young adulthood - remitted, persistent and late-onset ADHD - and compared these groups with one another and with non-ADHD controls on functioning at age 18 years. We additionally tested whether group differences were attributable to childhood IQ, childhood conduct disorder or familial factors shared between twins. RESULTS: Compared with individuals without ADHD, those with remitted ADHD showed poorer physical health and socioeconomic outcomes in young adulthood. Individuals with persistent or late-onset ADHD showed poorer functioning across all domains, including mental health, substance misuse, psychosocial, physical health and socioeconomic outcomes. Overall, these associations were not explained by childhood IQ, childhood conduct disorder or shared familial factors. CONCLUSIONS: Long-term associations of childhood ADHD with adverse physical health and socioeconomic outcomes underscore the need for early intervention. Young adult ADHD showed stronger associations with poorer mental health, substance misuse and psychosocial outcomes, emphasising the importance of identifying and treating adults with ADHD.Declaration of interestNone.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Transtorno do Deficit de Atenção com Hiperatividade/psicologia , Transtornos Relacionados ao Uso de Substâncias/epidemiologia , Gêmeos/psicologia , Adolescente , Fatores Etários , Criança , Pré-Escolar , Inglaterra , Feminino , Humanos , Transtornos de Início Tardio/diagnóstico , Transtornos de Início Tardio/psicologia , Modelos Logísticos , Estudos Longitudinais , Masculino , Saúde Mental , Classe Social , Inquéritos e Questionários , País de Gales
17.
J Hosp Infect ; 99(4): 367-380, 2018 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-29577993

RESUMO

BACKGROUND: At neonatal intensive care units, sepsis due to Gram-negative bacteria is an important cause of morbidity and mortality. The benefits of routine microbiological screening of neonatal body surface to predict and prevent sepsis are controversial. AIM: To evaluate the prognostic value of neonatal body surface screening for colonization with Gram-negative bacteria for the prediction of late-onset sepsis. METHODS: A systematic review was performed, including studies of any design that reported data to calculate prognostic accuracy of surface screening for the prediction of late-onset sepsis. Risk of bias was assessed and a meta-analysis performed. Evidence quality was appraised using the GRADE (Grading of Recommendations Assessment, Development and Evaluation) methodology. FINDINGS: Eight studies (all cohort design) were identified as eligible. Studies were performed in six countries in Europe, Asia, and North America and comprised a total of 4829 participants. All studies were at high risk of bias. Pooled sensitivity of body surface screening to predict late-onset sepsis was 41% (95% confidence interval: 17-70), whereas pooled specificity was 56% (34-76) (hierarchical summary receiver operating characteristics (HSROC) model). Subgroup analyses showed higher pooled estimates for specificity but not sensitivity when screening focused on Escherichia coli or Klebsiella pneumoniae. GRADE evidence quality was very low. CONCLUSION: Limited evidence of very low quality exists regarding the prognostic value of neonatal screening for late-onset sepsis. Carefully planned and conducted prospective studies, including randomized trials, are needed to clarify the potential value of this measure for the prediction and prevention of late-onset sepsis.


Assuntos
Portador Sadio/diagnóstico , Infecções por Bactérias Gram-Negativas/diagnóstico , Transtornos de Início Tardio/diagnóstico , Programas de Rastreamento/métodos , Sepse Neonatal/diagnóstico , Ásia , Europa (Continente) , Humanos , Recém-Nascido , Unidades de Terapia Intensiva Neonatal , América do Norte , Prognóstico , Curva ROC , Sensibilidade e Especificidade
18.
Am J Geriatr Psychiatry ; 26(6): 657-666, 2018 06.
Artigo em Inglês | MEDLINE | ID: mdl-29426606

RESUMO

OBJECTIVES: Very little is known about the association between symptomatic and functional recovery from late-life major depressive disorder (MDD) in sub-Saharan Africa. We investigated factors associated with sustained symptomatic remission (SR) from MDD and the 5-year trajectory of post-MDD physical functioning. DESIGN: 5-year prospective study with three follow-up waves in 2007, 2008, and 2009. SETTING/PARTICIPANTS: Household multistage probability sample of 2,149 Nigerians who were aged 65 years or older. MEASUREMENTS: Activities of Daily Living (ADL) and MDD were assessed using the Kadz index and Composite International Diagnostic Interview, respectively. We studied those with current MDD (prevalent in 2003-2004 or incident in 2007), and who achieved SR in subsequent waves compared with a chronic/recurrent course (CR). RESULTS: Baseline demographic characteristics, health, and lifestyle factors were not associated with SR in logistic regression analyses. In mixed-effect linear regression models adjusting for age, sex, and socioeconomic status, ADL worsened in SR (ß = 1.0, 95% CI: 0.2, 1.8), but more so in CR (ß = 2.3, 95% CI: 1.6, 3.0). Poorer ADL at follow-up was predicted by age (ß = 2.9, 95% CI: 1.8, 4.0) and economic status (ß = 1.4, 95% CI: 0.3, 2.4). CONCLUSIONS: There was a deteriorating course of disability despite symptomatic recovery from late-life MDD in this sample. This finding has implications for policy and guidelines for the management of late-life depression and disability.


Assuntos
Envelhecimento/psicologia , Transtorno Depressivo Maior/diagnóstico , Transtorno Depressivo Maior/psicologia , Atividades Cotidianas , Idoso , Idoso de 80 Anos ou mais , Transtorno Depressivo Maior/fisiopatologia , Feminino , Humanos , Transtornos de Início Tardio/diagnóstico , Transtornos de Início Tardio/fisiopatologia , Transtornos de Início Tardio/psicologia , Masculino , Nigéria , Estudos Prospectivos , Indução de Remissão
19.
Ann Dermatol Venereol ; 145(3): 166-172, 2018 Mar.
Artigo em Francês | MEDLINE | ID: mdl-29229192

RESUMO

BACKGROUND: The aim of this study was to describe special features of patients with systemic sclerosis (SSc) diagnosed after the age of 70. PATIENTS AND METHODS: This is a retrospective study of patients aged above 70 years at the time of diagnosis of SSc and followed at an internal medicine unit between 2000 and 2015. Co-morbidities and clinical characteristics were analyzed, as well as survival at 1, 2 and 3 years. RESULTS: Of 246 patients, 27 (11%) were included (89% women, 96% Caucasians, age 78.3±4.5 years). Synchronous cancer was noted in 3 patients. SSc was mostly limited cutaneous only (24/27), with telangiectasia (63%), gastroesophageal reflux (59%) and digital ulcers (22%), and was associated with anti-centromere antibody (69%). Interstitial lung disease was not frequent (29%). Pulmonary arterial hypertension (PAH) was suspected at diagnosis of SSc in 14 cases (52%), but only 5 patients had undergone heart catheterization, with severe PAH in 3 cases. Survival at 1 and 3 years was 85.2% and 66.7%, and was worse in the case of suspected PAH, at 78.6% and 57.1% respectively. CONCLUSION: Cases of SSc diagnosed after 70 years are mostly limited cutaneous forms. Suspicion of PAH is frequent, and PAH may be the main initial sign of the disease for patients at this age. There may be association with synchronous cancer. Survival is poor.


Assuntos
Medicina Interna , Transtornos de Início Tardio/diagnóstico , Escleroderma Sistêmico/diagnóstico , Neoplasias Cutâneas/diagnóstico , Idoso , Idoso de 80 Anos ou mais , Feminino , Seguimentos , França/epidemiologia , Refluxo Gastroesofágico/complicações , Humanos , Transtornos de Início Tardio/mortalidade , Doenças Pulmonares Intersticiais/complicações , Masculino , Estudos Retrospectivos , Fatores de Risco , Escleroderma Sistêmico/complicações , Escleroderma Sistêmico/mortalidade , Neoplasias Cutâneas/complicações , Neoplasias Cutâneas/mortalidade , Úlcera Cutânea/complicações , Telangiectasia/complicações
20.
Blood ; 131(5): 505-514, 2018 02 01.
Artigo em Inglês | MEDLINE | ID: mdl-29141943

RESUMO

Anemia is quite frequently diagnosed in older individuals and is a key indicator of various reactive and clonal conditions. Many underlying diseases, like myelodysplastic syndrome (MDS), develop preferentially in elderly individuals. The prevalence of anemia at older age is increasing, and this is mainly attributable to more frequently applied diagnostics and demographic changes in our societies. The etiology of anemia at older age is complex and ranges from bone marrow failure syndromes to chronic kidney disease, and from nutritional deficiencies to inflammatory processes including inflammaging in immunosenescence. In a smaller number of cases, no clear-cut etiology is identified. These patients are referred to as unexplained anemia or idiopathic cytopenia of unknown significance. In others, somatic mutations in leukocytes are found, but diagnostic criteria for MDS or other hematologic diseases are not fulfilled, a condition termed clonal cytopenia of undetermined significance. Management of anemias at older age depends on (1) the severity of the anemia, (2) underlying condition(s), and (3) patient-related factors, including comorbidities. Even a mild anemia may substantially affect physical and cognitive capacities and quality of life. An underestimated aspect is that because of age-related changes, organ function such as erythropoietin production in the kidney may become suboptimal. Management and treatment of anemia in older patients often require a multidisciplinary approach and detailed investigations of organ function. In this article, we review current concepts around anemias at older age, with special emphasis on etiologies, clinical implications, and innovative concepts in the management of these patients.


Assuntos
Envelhecimento/sangue , Anemia/etiologia , Anemia/terapia , Transtornos de Início Tardio/etiologia , Transtornos de Início Tardio/terapia , Idade de Início , Idoso , Idoso de 80 Anos ou mais , Anemia/diagnóstico , Anemia/epidemiologia , Humanos , Transtornos de Início Tardio/diagnóstico , Transtornos de Início Tardio/epidemiologia
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