Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 48
Filtrar
1.
Brain Dev ; 43(10): 1013-1022, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-34272103

RESUMO

BACKGROUND: Neurodegeneration with brain iron accumulation (NBIA) is a group of rare inherited neurodegenerative disorders. Ten types of NBIA are known. Studies reporting various NBIA subtypes together are few. This study was aimed at describing clinical features, neuroimaging findings, and genetic mutations of different NBIA group disorders. METHODS: Clinical, radiological, and genetic data of patients diagnosed with NBIA in a tertiary care centre in Southern India from 2014 to 2020 was retrospectively collected and analysed. RESULTS: In our cohort of 27 cases, PLA2G6-associated neurodegeneration (PLAN) was most common (n = 13) followed by Pantothenate kinase-associated neurodegeneration (PKAN) (n = 9). We had 2 cases each of Mitochondrial membrane-associated neurodegeneration (MPAN) and Beta-propeller protein- associated neurodegeneration (BPAN) and 1 case of Kufor-Rakeb Syndrome (KRS). Walking difficulty was the presenting complaint in all PKAN cases, whereas the presentation in PLAN was that of development regression with onset at a mean age of 2 years. Overall, 50% patients of them presented with development regression and one-third had epilepsy. Presence of pyramidal signs was most common examination feature (89%) followed by one or more eye findings (81%) and movement disorders (50%). Neuroimaging was abnormal in 24/27 cases and cerebellar atrophy was the commonest finding (52%) followed by globus pallidus hypointensities (44%). CONCLUSIONS: One should have a high index of clinical suspicion for the diagnosis of NBIA in children presenting with neuroregression and vision abnormalities in presence of pyramidal signs or movement disorders. Neuroimaging and ophthalmological evaluation provide important clues to diagnosis in NBIA syndromes.


Assuntos
Distúrbios do Metabolismo do Ferro/diagnóstico , Distrofias Neuroaxonais/diagnóstico , Neurodegeneração Associada a Pantotenato-Quinase/diagnóstico , Criança , Feminino , Humanos , Índia/epidemiologia , Distúrbios do Metabolismo do Ferro/epidemiologia , Masculino , Distrofias Neuroaxonais/epidemiologia , Neurodegeneração Associada a Pantotenato-Quinase/epidemiologia , Estudos Retrospectivos
2.
Parkinsonism Relat Disord ; 84: 98-104, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-33607528

RESUMO

INTRODUCTION: Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a rare neurological syndrome caused by pathogenic variants in the C19orf12 and is characterized by iron deposition in the basal ganglia and substantia nigra. Only a limited number of cohort studies were published to date and the prevalence of MPAN remains uncertain. METHODS: Recruited subjects with MPAN in Russia were diagnosed by whole-exome sequencing or Sanger sequencing of the C19orf12 gene. Data of over 14000 whole exome sequencing analyses was used to calculate the estimated disease frequency. RNA analysis was performed by RT-PCR. QSVanalyzer software was used to quantify the allelic disbalance. RESULTS: We describe the clinical and molecular characterizations of 17 patients with MPAN. DNA analysis detected three previously undescribed pathogenic/likely pathogenic variants in the C19orf12 gene. The estimated disease frequency was calculated to be 1:619150. We describe unusual clinical observations in several cases. One patient showed severe neurogenic muscle weakness along with a lack of marked spasticity or optic nerve atrophy. In another mild clinical case with the NM_001031726.3:c.204_214del (p.(Gly69Argfs*10)) variant in a heterozygous state, a marked allelic disbalance was observed on the RNA level with reduced expression level of the wild-type allele. Thus, this case became the first one of a possible regulatory variant causing MPAN. CONCLUSION: We reported a detailed clinical and molecular characterization of the third-largest MPAN cohort. We expanded the mutational and clinical spectrum of MPAN. Moreover, we calculated the estimated MPAN frequency in the Russian population for the first time.


Assuntos
Globo Pálido/patologia , Distúrbios do Metabolismo do Ferro , Proteínas de Membrana , Membranas Mitocondriais , Proteínas Mitocondriais , Distrofias Neuroaxonais , Substância Negra/patologia , Adolescente , Adulto , Criança , Feminino , Globo Pálido/diagnóstico por imagem , Humanos , Distúrbios do Metabolismo do Ferro/epidemiologia , Distúrbios do Metabolismo do Ferro/genética , Distúrbios do Metabolismo do Ferro/patologia , Distúrbios do Metabolismo do Ferro/fisiopatologia , Imageamento por Ressonância Magnética , Distrofias Neuroaxonais/epidemiologia , Distrofias Neuroaxonais/genética , Distrofias Neuroaxonais/patologia , Distrofias Neuroaxonais/fisiopatologia , Estudos Retrospectivos , Federação Russa/epidemiologia , Substância Negra/diagnóstico por imagem , Sequenciamento do Exoma
3.
Am J Obstet Gynecol ; 223(4): 516-524, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32184147

RESUMO

Iron is essential for the function of all cells through its roles in oxygen delivery, electron transport, and enzymatic activity. Cells with high metabolic rates require more iron and are at greater risk for dysfunction during iron deficiency. Iron requirements during pregnancy increase dramatically, as the mother's blood volume expands and the fetus grows and develops. Thus, pregnancy is a condition of impending or existing iron deficiency, which may be difficult to diagnose because of limitations to commonly used biomarkers such as hemoglobin and ferritin concentrations. Iron deficiency is associated with adverse pregnancy outcomes, including increased maternal illness, low birthweight, prematurity, and intrauterine growth restriction. The rapidly developing fetal brain is at particular risk of iron deficiency, which can occur because of maternal iron deficiency, hypertension, smoking, or glucose intolerance. Low maternal gestational iron intake is associated with autism, schizophrenia, and abnormal brain structure in the offspring. Newborns with iron deficiency have compromised recognition memory, slower speed of processing, and poorer bonding that persist despite postnatal iron repletion. Preclinical models of fetal iron deficiency confirm that expected iron-dependent processes such as monoamine neurotransmission, neuronal growth and differentiation, myelination, and gene expression are all compromised acutely and long term into adulthood. This review outlines strategies to diagnose and prevent iron deficiency in pregnancy. It describes the neurocognitive and mental health consequences of fetal iron deficiency. It emphasizes that fetal iron is a key nutrient that influences brain development and function across the lifespan.


Assuntos
Desenvolvimento Fetal/fisiologia , Deficiências de Ferro , Distúrbios do Metabolismo do Ferro/tratamento farmacológico , Complicações na Gravidez/tratamento farmacológico , Oligoelementos/uso terapêutico , Encéfalo/embriologia , Encéfalo/crescimento & desenvolvimento , Encéfalo/metabolismo , Feminino , Humanos , Ferro/metabolismo , Ferro/fisiologia , Ferro/uso terapêutico , Distúrbios do Metabolismo do Ferro/epidemiologia , Distúrbios do Metabolismo do Ferro/metabolismo , Distúrbios do Metabolismo do Ferro/fisiopatologia , Transtornos Mentais/epidemiologia , Transtornos do Neurodesenvolvimento/epidemiologia , Gravidez , Complicações na Gravidez/epidemiologia , Complicações na Gravidez/metabolismo , Complicações na Gravidez/fisiopatologia , Efeitos Tardios da Exposição Pré-Natal/epidemiologia
4.
Support Care Cancer ; 28(4): 1639-1647, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31278463

RESUMO

PURPOSE: Anemia is common in oncology and negatively impacts quality of life. However, there is lack of knowledge about iron deficiency (ID) epidemiology. The aim of this study was to prospectively assess iron status in patients with locally advanced or metastatic cancer beginning chemotherapy. METHODS: In this prospective, multicenter cohort study, anemia and ID were evaluated in patients with locally advanced or metastatic solid tumors and lymphoma before starting chemotherapy. Blood samples were collected at inclusion (W0), 6 weeks (W6), and 12 weeks (W12). Prevalence was evaluated in the general population, according to tumor location and was correlated with tumor response. RESULTS: One hundred twenty-nine patients were enrolled between 2013 and 2015; 119 had solid tumors and 10 lymphomas. At W0, there were no significant difference between locations with a prevalence around 50-60% (range 47.2-70.4%) and only a trend for colorectal cancer (70.4%, P = 0.069) due to a higher prevalence of absolute ID (18.5%). Prevalence of ID+ decreased between W0 and W6 and remained stable until W12 due to the proportion of patients with ID and without anemia. However, anemia prevalence increased during W0 and W6 and remained stable to W6 from W12 due to patients with anemia but without ID. A significant correlation between tumor response and ID prevalence was found (P = 0.036). CONCLUSIONS: We confirm the high prevalence of ID and anemia in cancer patients. ID status is correlated to tumor response providing a strong rationale for iron monitoring during cancer management.


Assuntos
Anemia Ferropriva/epidemiologia , Deficiências de Ferro , Distúrbios do Metabolismo do Ferro/epidemiologia , Neoplasias/tratamento farmacológico , Neoplasias/epidemiologia , Idoso , Idoso de 80 Anos ou mais , Anemia Ferropriva/sangue , Anemia Ferropriva/induzido quimicamente , Estudos de Coortes , Feminino , Humanos , Distúrbios do Metabolismo do Ferro/sangue , Distúrbios do Metabolismo do Ferro/induzido quimicamente , Masculino , Pessoa de Meia-Idade , Prevalência , Estudos Prospectivos , Qualidade de Vida
5.
Acta Haematol ; 143(1): 26-32, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-31302652

RESUMO

OBJECTIVES: Non-anemic individuals may have undetected subclinical iron deficiency (SID). The aims of this study were to determine the prevalence of SID and identify the associated factors for SID. In addition, the screening performance of red blood cell (RBC) indices for SID in health check-ups was assessed. METHODS: This study was conducted with 16,485 non-anemic health examinees (3,567 males and 12,918 females) who underwent tests for iron variables (serum iron, total iron-binding capacity, ferritin, and iron saturation) at 16 health-promotion centers in 13 cities in Korea between January 2017 and June 2018. SID was defined as a decreased ferritin level (<24 µg/L in males and <15 µg/L in females) and either a decreased serum iron level (<44 µg/dL in males and <29 µg/dL in females) or a transferrin saturation of <20%. RESULTS: The prevalence rates of SID were 0.6 and 3.3% in males and females, respectively. In terms of age and sex, SID was most prevalent in males aged ≥70 years (7.8%) and females aged 15-49 years (7.6%). There were significant differences in the hemoglobin (Hb) level, white blood cell count, platelet count, mean corpuscular volume, mean corpuscular Hb (MCH), and RBC distribution width (RDW) between the SID and non-SID groups (p < 0.001). The factors associated with SID in males were older age (odds ratio, OR, 1.069, 95% confidence interval, CI, 1.03-1.109, p = 0.004), lower Hb (OR 0.58, 95% CI 0.345-0.976, p = 0.04), lower MCH (OR 0.433, 95% CI 0.298-0.629, p < 0.001), and higher RDW (OR 1.374, 95% CI 1.001-1.887, p = 0.049), while in females they were lower body mass index (BMI; OR 0.929, 95% CI 0.895-0.963, p < 0.001) and younger age (OR 0.954, 95% CI 0.945-0.963, p < 0.001), as well as lower Hb, lower MCH, and higher RDW. The AUC for the MCH (0.877, 95% CI 0.793-0.960 in males; 0.872, 95% CI 0.853-0.890 in females) indicates that the MCH at cut-offs of 29.2 and 29.3 pg are the best discriminators of SID in males and females, respectively (p < 0.001). CONCLUSIONS: Reproductive-age females with a lower BMI and elderly males are high-risk groups for SID. MCH is a reliable RBC index for the screening of SID. For the population with defined risk factors, including females with lower BMI and elderly males, screening for SID is needed to prevent the development of anemia.


Assuntos
Deficiências de Ferro , Distúrbios do Metabolismo do Ferro/diagnóstico , Adolescente , Adulto , Idoso , Anemia Ferropriva/diagnóstico , Anemia Ferropriva/epidemiologia , Área Sob a Curva , Índice de Massa Corporal , Eritrócitos/citologia , Feminino , Hemoglobinas/análise , Humanos , Ferro/sangue , Distúrbios do Metabolismo do Ferro/epidemiologia , Masculino , Pessoa de Meia-Idade , Prevalência , Curva ROC , República da Coreia/epidemiologia , Estudos Retrospectivos , Fatores de Risco , Adulto Jovem
6.
Clin Chem Lab Med ; 57(12): 1837-1845, 2019 Nov 26.
Artigo em Inglês | MEDLINE | ID: mdl-31211687

RESUMO

Background In hereditary hyperferritinaemia-cataract syndrome (HHCS), single nucleic acid alterations in the ferritin light chain (L-ferritin) iron response element (IRE) constitutively derepress ferritin synthesis, resulting in hyperferritinaemia, L-ferritin deposits in the lens of the eye and early bilateral cataract onset. Methods In this study, six German families with putative HHCS were analysed. Clinical diagnosis of HHCS was based on medical history, evaluation of ferritin serum levels, transferrin saturation and clinical ophthalmological examination. Diagnosis was confirmed by polymerase chain reaction (PCR)-based DNA sequencing of the L-ferritin IRE. Results Genetic analysis of the L-ferritin IRE revealed relevant single nucleic acid alterations in each of the affected families. Variants c.-168G > A, c.-168G > U and c.-167C > U were located in the C-bulge region; and variants c.-161C > U and c.-157G > A were located in the hexanucleotide loop of the L-ferritin IRE. Conclusions Family history of hyperferritinaemia and juvenile cataracts are strong indicators of HHCS. Genetic analysis of the L-ferritin IRE is a straightforward procedure to confirm the diagnosis. Accurate diagnosis of hyperferritinaemia can avoid unnecessary treatment by venesection, and focus attention on early cataract detection in offspring at risk.


Assuntos
Apoferritinas/genética , Catarata/congênito , Distúrbios do Metabolismo do Ferro/congênito , Adulto , Idoso , Idoso de 80 Anos ou mais , Apoferritinas/análise , Apoferritinas/sangue , Sequência de Bases/genética , Catarata/diagnóstico , Catarata/epidemiologia , Família , Feminino , Ferritinas/genética , Testes Genéticos/métodos , Alemanha/epidemiologia , Humanos , Ferro/metabolismo , Distúrbios do Metabolismo do Ferro/diagnóstico , Distúrbios do Metabolismo do Ferro/epidemiologia , Masculino , Pessoa de Meia-Idade , Mutação/genética , Linhagem
7.
Dig Liver Dis ; 51(4): 505-509, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30236765

RESUMO

BACKGROUND: Chronic atrophic autoimmune gastritis (CAAG) leads to vitamin B12 deficiency, but other micronutrient deficiencies are largely understudied. AIMS: To investigate the prevalence of micronutrient deficiencies in CAAG patients and their potential relationship with the grading of gastric atrophy or entero-chromaffin-like cells hyperplasia or body mass index (BMI). METHODS: From 2005 to 2016 a number of CAAG patients underwent regular follow-up with annual blood testing and upper gastrointestinal tract endoscopy every years. RESULTS: Out of the 122 CAAG patients checked (100 F; median age 65 years), 76 presented nutritional deficiencies, single in 24 and multiple in 52 cases: a deficiency of B12 and iron showed in 42 patients, 25-OH vitamin D lacked in 76 and folic acid in 6 cases. 25-OH vitamin D levels directly correlated with B12 levels and were significantly lower in patients with macronodular than in those with linear or micronodular hyperplasia. No significant correlation was observed between B12, folic acid or ferritin levels and BMI, blood gastrin levels, the grading of gastric atrophy or ECL cells hyperplasia. CONCLUSIONS: 25-OH vitamin D deficiency was the main one in CAAG patients: its correlation with B12 deficiency may indicate underlying shared pathogenic mechanisms, although further studies are needed to confirm this hypothesis.


Assuntos
Doenças Autoimunes/sangue , Gastrite Atrófica/sangue , Micronutrientes/deficiência , Deficiência de Vitamina B 12/epidemiologia , Deficiência de Vitamina D/epidemiologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Doenças Autoimunes/complicações , Doença Crônica , Endoscopia Gastrointestinal , Feminino , Deficiência de Ácido Fólico/complicações , Deficiência de Ácido Fólico/epidemiologia , Gastrite Atrófica/complicações , Gastrite Atrófica/patologia , Humanos , Distúrbios do Metabolismo do Ferro/complicações , Distúrbios do Metabolismo do Ferro/epidemiologia , Masculino , Pessoa de Meia-Idade , Prevalência , Deficiência de Vitamina B 12/complicações , Deficiência de Vitamina D/complicações
8.
Acta Med Port ; 31(9): 478-482, 2018 Sep 28.
Artigo em Inglês | MEDLINE | ID: mdl-30332371

RESUMO

INTRODUCTION: We aim to define the iron deficiency prevalence and eventual differences between obese patients with and without metabolic syndrome. MATERIAL AND METHODS: Analysis of patients evaluated at multidisciplinary consultation of obesity in our institution between 2013 and 2015 (n = 260). Iron deficiency: ferritin levels < 15 ng/mL. EXCLUSION CRITERIA: prior bariatric surgery; lack of ferritin or hemoglobin determinations. RESULTS: We analyzed data from 215 patients (84.2% female) with a mean age of 42.0 ± 10.3 years. The median body mass index was 42.5 (40.0 - 46.8) kg/m2 and 52.1% had metabolic syndrome. Iron deficiency was present in 7.0%, with no differences between genders or between patients with or without metabolic syndrome. Hypertension was associated with lower prevalence of iron deficiency. Type 2 diabetes and hypertension patients had higher levels of ferritin. The multivariate analysis showed that metabolic syndrome and increasing body mass index were predictive of higher risk of iron deficiency while hypertension predicted lower odds of iron deficiency. DISCUSSION: The prevalence of iron deficiency was similar in other published studies. Iron deficiency may be underdiagnosed if based only on ferritin concentrations. In our study, diabetes and hypertension appear to contribute to the increase in ferritin levels described in obesity. CONCLUSION: Ferritin may not be a reliable index for evaluating iron stores in obese patients, particularly when associated with comorbidities such as type 2 diabetes and hypertension. Further studies are needed to guide the diagnosis and iron supplementation in these patients.


Introdução: Os objetivos foram a determinação da prevalência de défice de ferro e de eventuais diferenças entre os doentes obesos com e sem síndrome metabólica. Material e Métodos: Análise dos doentes observados na consulta multidisciplinar de obesidade na nossa instituição entre 2013 e 2015 (n = 260). Défice de ferro: ferritina < 15 ng/mL. Critérios de exclusão: cirurgia bariátrica prévia, ausência de doseamentos de ferritina e de hemoglobina. Resultados: Avaliaram-se 215 doentes (84,2% mulheres) com uma idade média de 42,0 ± 10,3 anos. O índice de massa corporal mediano foi 42,5 (40,0 - 46,8) kg/m2 e 52,1% apresentavam síndrome metabólica. O défice de ferro estava presente em 7,0% sem diferenças entre os géneros e entre os doentes com e sem síndrome metabólica. A hipertensão associou-se a menor prevalência de défice de ferro. Doentes com diabetes tipo 2 e hipertensão apresentaram valores mais elevados de ferritina. Na análise multivariada, a síndrome metabólica e o índice de massa corporal constituíram fatores preditivos de défice de ferro, enquanto a hipertensão se associou a um menor risco. Discussão: A prevalência de défice de ferro foi similar a estudos previamente publicados. O défice de ferro pode ser subdiagnosticado se baseado apenas nas concentrações de ferritina. No nosso estudo, a diabetes e a hipertensão parecem contribuir para os níveis elevados de ferritina descritos na obesidade. Conclusão: A ferritina poderá não ser um índice fiável para avaliação de reservas de ferro na obesidade, particularmente quando associada a diabetes tipo 2 e hipertensão. São necessários mais estudos de forma a orientar o diagnóstico e a suplementação com ferro nestes doentes.


Assuntos
Deficiências de Ferro , Distúrbios do Metabolismo do Ferro/complicações , Distúrbios do Metabolismo do Ferro/diagnóstico , Síndrome Metabólica/complicações , Obesidade/complicações , Adulto , Estudos Transversais , Feminino , Ferritinas/sangue , Humanos , Distúrbios do Metabolismo do Ferro/sangue , Distúrbios do Metabolismo do Ferro/epidemiologia , Masculino , Síndrome Metabólica/sangue , Obesidade/sangue , Prevalência , Estudos Retrospectivos
9.
Parkinsonism Relat Disord ; 36: 33-40, 2017 03.
Artigo em Inglês | MEDLINE | ID: mdl-28012953

RESUMO

INTRODUCTION: The diagnosis aceruloplasminemia is usually made in patients with advanced neurological manifestations of the disease. In these patients prognosis is poor, disabilities are severe and patients often die young. The aim of our study was to facilitate recognition of aceruloplasminemia at a disease stage at which treatment can positively influence outcome. Currently, the neurological phenotype of aceruloplasminemia has been mainly described in Japanese patients. This 'classical' phenotype consists of cerebellar ataxia, hyperkinetic movement disorders and cognitive decline. In this study we describe the spectrum of neurological disease in Caucasian patients. METHODS: Data on neurological presentation and follow-up were gathered from both our patients, homozygous for the G631R mutation in the CP gene, and other published Caucasian cases. Neurological features of aceruloplasminemia in Caucasian patients were compared to those summarized in Japanese patients. RESULTS: 21 Caucasian patients, both ours and the described cases, displayed a wide range of movement disorders with predominant chorea, parkinsonism and ataxia, and also tremor and dystonia. In addition to cognitive decline, nearly half of the Caucasian patients presented with psychiatric changes, including depression, anxiety and behavioral changes. In one-third of the neurologically symptomatic Caucasian patients, cognitive- or psychiatric changes were the first neurological manifestations of aceruloplasminemia. CONCLUSIONS: Aceruloplasminemia in Caucasian patients can present with a wider range and a different order of neurological symptoms than previously described in Japanese patients. Psychiatric changes and parkinsonism can be added to the spectrum of neurological disease. Cognitive- or psychiatric changes may be the first neurological manifestations of aceruloplasminemia.


Assuntos
Ceruloplasmina/deficiência , Distúrbios do Metabolismo do Ferro/diagnóstico por imagem , Distúrbios do Metabolismo do Ferro/genética , Doenças do Sistema Nervoso/diagnóstico por imagem , Doenças do Sistema Nervoso/genética , Doenças Neurodegenerativas/diagnóstico por imagem , Doenças Neurodegenerativas/genética , Fenótipo , População Branca/genética , Adulto , Ceruloplasmina/genética , Feminino , Seguimentos , Humanos , Distúrbios do Metabolismo do Ferro/epidemiologia , Masculino , Pessoa de Meia-Idade , Doenças do Sistema Nervoso/epidemiologia , Doenças Neurodegenerativas/epidemiologia , Linhagem
10.
Neonatology ; 111(1): 68-75, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-27547966

RESUMO

BACKGROUND: The substantial risk of iron overload is not routinely monitored in most of the neonatal intensive care units (NICUs) in Japan; however, blood transfusion is an essential strategy for successfully treating preterm low-birth-weight infants. OBJECTIVE: The aim of this study was to investigate the iron status and clinical features of infants with a birth weight of <1,500 g, i.e. very-low-birth-weight infants (VLBWIs). METHODS: This prospective observational study enrolled 176 (82.6%) patients from a total of 213 VLBWIs admitted to our NICU from 2009 to 2014. Clinical information was collected including maternal records and infant morbidity and treatment. Management strategies including enteral iron supplementation, erythropoietin administration and blood transfusion were allowed according to the consensus in Japan. The hematological status was surveyed from birth to 12 postnatal weeks of age. The iron status was determined according to serum iron, unbound iron-binding capacity and serum ferritin. The definition of hyperferritinemia was set as a value of ≥500 ng/ml. RESULTS: Twenty-four (13.6%) infants displayed hyperferritinemia. A multiple logistic analysis selected 3 associated factors of hyperferritinemia: surgical ligation for patent ductus arteriosus, sepsis and moderate or severe states of bronchopulmonary dysplasia. We also verified that the value of ferritin was significantly correlated with those of aspartate transaminase, creatine kinase and C-reactive protein according to a multilinear regression analysis. After excluding the ferritin data of these outliers, we did not observe any factors associated with hyperferritinemia. CONCLUSIONS: Hyperferritinemia might be associated with oxygen radical diseases and susceptibility to infection.


Assuntos
Displasia Broncopulmonar/epidemiologia , Permeabilidade do Canal Arterial/epidemiologia , Eritropoetina/uso terapêutico , Ferritinas/sangue , Distúrbios do Metabolismo do Ferro/epidemiologia , Sobrecarga de Ferro/epidemiologia , Sepse/epidemiologia , Peso ao Nascer , Proteína C-Reativa/análise , Feminino , Idade Gestacional , Humanos , Recém-Nascido , Recém-Nascido de muito Baixo Peso/sangue , Unidades de Terapia Intensiva Neonatal , Distúrbios do Metabolismo do Ferro/sangue , Japão , Modelos Logísticos , Masculino , Análise Multivariada , Estudos Prospectivos
12.
Eur J Gastroenterol Hepatol ; 28(10): 1126-9, 2016 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-27337098

RESUMO

BACKGROUND AND AIMS: The etiology of iron deficiency (ID) without anemia in young men is unclear, and there are no evidence-based recommendations for the required gastrointestinal (GI) evaluation. The aims of this study were to examine the incidence of significant GI pathology and the development of anemia during the follow-up of young men presenting with ID, but without anemia. METHODS: All young men (18-30 years) who served in the Israel Defense Forces during the years 2005-2013 and had at least a single laboratory test indicative of ID without anemia were followed until the diagnosis of significant GI pathology or discharge from military service. RESULTS: The study population included 2061 young men (mean age 20.7±1.8). During follow-up of 3150 person years, significant GI pathologies were diagnosed in 39 patients: inflammatory bowel disease in 25 (1.2%), celiac disease in 8 (0.4%), and peptic disease in 4 (0.1%). No cases of GI-related cancer were diagnosed. ID anemia developed during follow-up in 203 (9.8%). Lower baseline hemoglobin levels, lower ferritin levels, and younger age at diagnosis were more common among those who developed anemia. The development of anemia was a predisposing factor for the diagnosis of GI pathology (risk ratio=3.60, 95% confidence interval 1.34-8.32, P=0.012). CONCLUSION: Significant GI pathology is very uncommon in young men presenting with ID. Overt anemia developed in close to 10% of the study cohort. Therefore, we advise simple GI evaluation (celiac serology, C-reactive protein or fecal calprotectin, and urease breath test) as well as follow-up in this population.


Assuntos
Anemia Ferropriva/epidemiologia , Gastroenteropatias/epidemiologia , Trato Gastrointestinal/patologia , Deficiências de Ferro , Distúrbios do Metabolismo do Ferro/epidemiologia , Adolescente , Adulto , Anemia Ferropriva/sangue , Anemia Ferropriva/diagnóstico , Biomarcadores/sangue , Progressão da Doença , Gastroenteropatias/diagnóstico , Gastroenteropatias/patologia , Humanos , Incidência , Ferro/sangue , Distúrbios do Metabolismo do Ferro/sangue , Distúrbios do Metabolismo do Ferro/diagnóstico , Israel/epidemiologia , Masculino , Razão de Chances , Estudos Prospectivos , Fatores de Risco , Fatores de Tempo , Adulto Jovem
13.
Int J Cardiol ; 195: 143-8, 2015 Sep 15.
Artigo em Inglês | MEDLINE | ID: mdl-26043148

RESUMO

BACKGROUND: Both iron deficiency (ID) and cardiovascular biomarkers are associated with a poor outcome in heart failure (HF). The relationship between different cardiovascular biomarkers and ID is unknown, and the true prevalence of ID in an outpatient HF clinic is probably overlooked. OBJECTIVES: To identify the prevalence of ID in a HF clinic and evaluate whether ID is associated with increased plasma concentrations of different cardiovascular biomarkers that carry a poor prognosis. METHODS: We prospectively included 149 patients with systolic HF referred to an outpatients HF clinic. ID was defined as ferritin<100 µg/L or ferritin 100-300 µg/L and Tranferin-saturation<0.20. Five different cardiovascular biomarkers were analyzed on frozen plasma. RESULTS: The patients had a median age of 70 (Interquartile range: 64-75) years, 25% were females, 29% were in functional class III-IV and LVEF was 32 (27-39) %. The prevalence of ID was 45% (95%-confidence interval (CI): 37-53%). In multivariate analyses, ID was not associated with plasma concentrations of troponin I, NT-proBNP, MR-proANP, chromogranin A or copeptin (P>0.05 for all) but with plasma concentrations of hs-CRP (odds ratio: 2.03, 95%-CI: 1.02-4.02, P=0.043). CONCLUSION: ID is frequent in an outpatient HF clinic. ID is not associated with cardiovascular biomarkers after adjustment for traditional confounders. Inflammation, but not neurohormonal activation is associated with ID in systolic HF. Further studies are needed to understand iron metabolism in elderly HF patients.


Assuntos
Ferritinas/sangue , Insuficiência Cardíaca Sistólica , Distúrbios do Metabolismo do Ferro , Ferro , Peptídeo Natriurético Encefálico/sangue , Fragmentos de Peptídeos/sangue , Troponina I/sangue , Idoso , Biomarcadores/análise , Biomarcadores/sangue , Proteína C-Reativa/análise , Cromogranina A/sangue , Comorbidade , Dinamarca/epidemiologia , Feminino , Glicopeptídeos/sangue , Insuficiência Cardíaca Sistólica/sangue , Insuficiência Cardíaca Sistólica/diagnóstico , Insuficiência Cardíaca Sistólica/mortalidade , Humanos , Ferro/metabolismo , Deficiências de Ferro , Distúrbios do Metabolismo do Ferro/sangue , Distúrbios do Metabolismo do Ferro/diagnóstico , Distúrbios do Metabolismo do Ferro/epidemiologia , Estimativa de Kaplan-Meier , Masculino , Pacientes Ambulatoriais , Prevalência , Prognóstico , Estatística como Assunto , Transferrina/análise
14.
Biomed Res Int ; 2014: 815245, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24800252

RESUMO

OBJECTIVE: Hyperferritinemia is frequently accompanied by rapidly progressive (RP) interstitial lung disease (ILD) with polymyositis (PM)/dermatomyositis (DM). To clarify the mechanism of RP-ILD with hyperferritinemia, we investigated the associations between serum ferritin levels and various cytokines in patients with PM/DM. METHODS: This retrospective study included 38 patients admitted to our hospital with PM/DM. Levels of serum ferritin and cytokines (IL-1ß, IL-2, IL-4, IL-6, IL-8, IL-10, IL-12, IL-13, IL-17, IL-18, TNF-α, IFN-α, IFN-γ, and IP-10) were measured. Disease activity was evaluated using the tool proposed by the International Myositis Assessment and Clinical Studies Group. We analyzed the associations between disease activity and levels of serum ferritin and cytokines. RESULTS: The levels of serum ferritin, IL-8, IL-10, IL-18, and TNF-α, were significantly correlated with disease activity. In a multivariate analysis, IL-6 (t = 3.6, P = 0.0010), IL-8 (t = 4.8, P < 0.0001), and IL-10 (t = 5.7, P < 0.0001) significantly contributed to serum ferritin levels. The levels of serum ferritin, IL-6, IL-8, and IL-10, were higher in the RP-ILD subset than in the non-ILD subset or the chronic ILD subset. CONCLUSION: IL-6, IL-8, and IL-10 are significant contributors to hyperferritinemia in PM/DM. The regulation of these cytokines might offer a possible treatment strategy for RP-ILD with PM/DM.


Assuntos
Dermatomiosite , Ferritinas/sangue , Interleucinas/sangue , Distúrbios do Metabolismo do Ferro , Doenças Pulmonares Intersticiais , Adulto , Dermatomiosite/sangue , Dermatomiosite/complicações , Dermatomiosite/epidemiologia , Feminino , Humanos , Distúrbios do Metabolismo do Ferro/sangue , Distúrbios do Metabolismo do Ferro/complicações , Distúrbios do Metabolismo do Ferro/epidemiologia , Doenças Pulmonares Intersticiais/sangue , Doenças Pulmonares Intersticiais/complicações , Doenças Pulmonares Intersticiais/epidemiologia , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos
15.
Nefrología (Madr.) ; 34(2): 189-198, mar.-abr. 2014. ilus, tab
Artigo em Espanhol | IBECS | ID: ibc-124775

RESUMO

Introducción: La anemia es una complicación frecuente de la enfermedad renal crónica (ERC). El objetivo de este estudio fue conocer la prevalencia de anemia en pacientes con ERC estadios 3-5 no en diálisis atendidos en consultas externas (CCEE) de Nefrología en Cataluña y su manejo clínico. Metodología: Estudio epidemiológico, de cohorte transversal, multicéntrico, en condiciones de práctica clínica habitual. Recogida de datos mediante un e-CRD que incluía datos de filiación y aquellos relacionados con la anemia (hemoglobina, estatus férrico, tratamiento con agentes estimuladores de la eritropoyesis [AEE] y con otros coadyuvantes). Se definió anemia como unos niveles de hemoglobina < 13,5 g/dl en varones o < 12 g/dl en mujeres o pacientes que recibieran tratamiento con AEE. Resultados: Se incluyeron 504 pacientes (56,4 % varones, edad media de 67,8 ± 15,5 años): 61,5 % presentaban ERC estadio 3, 30,2 % estadio 4 y 8,3 % estadio 5. Las principales causas de ERC fueron la vascular y la nefropatía diabética. La prevalencia de anemia fue del 58,5 % (n = 295); sin embargo, solo un 14,9 % de los pacientes tenían niveles de hemoglobina < 11 g/dl. Los niveles medios de hemoglobina disminuían y el tratamiento con AEE era más frecuente a medida que progresaba la ERC, pero no se observaron diferencias significativas respecto a la prescripción de hierro, según estadios. Los AEE e intervalos más frecuentemente prescritos fueron darbepoetina alfa con una dosis mediana de 40 μg/bisemanal, seguida por C.E.R.A., con una dosis mediana de 75 μg/mensual y epoetina beta con una dosis mediana de 5000 UI/semanal. De los pacientes con anemia (n = 295), un 36,3 % (n = 107) presentaban ferropenia y de ellos solo un 53,3 % recibía tratamiento con suplementos de hierro. Conclusiones: Este estudio demuestra la alta prevalencia de anemia, la cual aumenta a medida que progresa la enfermedad, así como el buen control de la misma en la población de pacientes con ERC atendidos en CCEE de Nefrología en Cataluña. Este control se consigue con dosis moderadas de AEE y prescripción de suplementos de hierro en más del 50 % de los pacientes anémicos (AU)


Introduction: Anaemia is a common complication of chronic kidney disease (CKD). The aim of this study was to determine the prevalence and clinical management of anaemia in patients with stages 3-5 CKD not on dialysis treated in outpatient Nephrology clinics (OC) in Catalonia. Methods: Epidemiological, cross-sectional cohort, multicentre study under routine clinical practice conditions. Data collection by electronic data collection log-book (e-DCL) including personal information and data related to anaemia (haemoglobin, iron status, treatment with erythropoiesis-stimulating agents [ESA] and other anaemia treatments). Anaemia was defined as haemoglobin levels <13.5g/dL in males or <12g/dL in females or patients who receive treatment with ESA. Results: We included 504 patients (56.4% male, mean age of 67.8±15.5 years): 61.5% had stage 3 CKD, 30.2% stage 4 and 8.3% stage 5. The main causes of CKD were vascular and diabetic nephropathy. The prevalence of anaemia was 58.5% (n=295), however, only 14.9% of patients had haemoglobin levels <11g/dL. Mean haemoglobin levels decreased and ESA treatment was more common as CKD progressed, but no significant differences were observed regarding the prescription of iron, according to CKD stages. ESA and intervals most frequently prescribed were darbepoetin alfa with a median dose of 40μg/biweekly, followed by C.E.R.A. with a median dose of 75μg/month and epoetin beta with a median dose of 5,000IU/week. Among the patients with anaemia (n=295), 36.3% (n=107) had iron deficiency and only 53.3% of these patients were treated with iron supplements. Conclusions: This study demonstrates the high prevalence of anaemia, which increases as the disease progresses and its good control in a CKD patient population treated in Nephrology outpatient clinics in Catalonia. This control is achieved with moderate doses of ESA and iron supplements prescribed in more than 50% of anaemic CKD patients (AU)


Assuntos
Humanos , Insuficiência Renal Crônica/complicações , Anemia/epidemiologia , Eritropoese , Progressão da Doença , Anemia Ferropriva/tratamento farmacológico , 16595/tratamento farmacológico , Ferro/uso terapêutico , Distúrbios do Metabolismo do Ferro/epidemiologia
16.
BMC Med ; 11: 185, 2013 Aug 22.
Artigo em Inglês | MEDLINE | ID: mdl-23968282

RESUMO

BACKGROUND: Over the last few years, accumulating data have implicated a role for ferritin as a signaling molecule and direct mediator of the immune system. Hyperferritinemia is associated with a multitude of clinical conditions and with worse prognosis in critically ill patients. DISCUSSION: There are four uncommon medical conditions characterized by high levels of ferritin, namely the macrophage activation syndrome (MAS), adult onset Still's disease (AOSD), catastrophic antiphospholipid syndrome (cAPS) and septic shock, that share a similar clinical and laboratory features, and also respond to similar treatments, suggesting a common pathogenic mechanism. Ferritin is known to be a pro-inflammatory mediator inducing expression of pro-inflammatory molecules, yet it has opposing actions as a pro-inflammatory and as an immunosuppressant. We propose that the exceptionally high ferritin levels observed in these uncommon clinical conditions are not just the product of the inflammation but rather may contribute to the development of a cytokine storm. SUMMARY: Here we review and compare four clinical conditions and the role of ferritin as an immunomodulator. We would like to propose including these four conditions under a common syndrome entity termed "Hyperferritinemic Syndrome".


Assuntos
Síndrome Antifosfolipídica/sangue , Ferritinas/sangue , Síndrome de Ativação Macrofágica/sangue , Choque Séptico/sangue , Doença de Still de Início Tardio/sangue , Animais , Síndrome Antifosfolipídica/diagnóstico , Síndrome Antifosfolipídica/epidemiologia , Catarata/sangue , Catarata/congênito , Catarata/diagnóstico , Catarata/epidemiologia , Doença Catastrófica/epidemiologia , Humanos , Mediadores da Inflamação/sangue , Distúrbios do Metabolismo do Ferro/sangue , Distúrbios do Metabolismo do Ferro/congênito , Distúrbios do Metabolismo do Ferro/diagnóstico , Distúrbios do Metabolismo do Ferro/epidemiologia , Síndrome de Ativação Macrofágica/diagnóstico , Síndrome de Ativação Macrofágica/epidemiologia , Choque Séptico/diagnóstico , Choque Séptico/epidemiologia , Doença de Still de Início Tardio/diagnóstico , Doença de Still de Início Tardio/epidemiologia
17.
Gastroenterol Hepatol ; 36(8): 499-507, 2013 Oct.
Artigo em Espanhol | MEDLINE | ID: mdl-23972683

RESUMO

OBJECTIVE: To determine the prevalence and characteristics of anemia and iron deficiency in patients hospitalized for gastrointestinal diseases. METHODS: An epidemiological, multicenter, mixed design study (retrospective review of randomized clinical records and prospective visits) conducted between February 2010 and March 2011 in 22 Spanish gastroenterology departments. Severe anemia was defined as Hb < 10g/dL, mild/moderate as Hb ≥ 10g/dL, and iron deficiency as ferritin < 30ng/ml or transferrin saturation < 16%. RESULTS: We included 379 patients. The mean±SD age was 57±19 years and 47% were men. The prevalence of anemia at admission was 60% (95% CI 55 to 65), and anemia was severe (Hb <10g/dl) in half the patients. The prevalence of iron deficiency was 54% of evaluable patients (95% CI 47 to 61). Gastrointestinal bleeding at admission was found in 39% of the patients, of whom 83% (121/146) were anemic. At discharge, the proportion of anemic patients was unchanged (from 60% at admission to 58% at discharge) (95% CI 53 to 63) and iron deficiency was found in 41% (95% CI 32 to 50): anemia was severe in 17% and mild/moderate in 41%. During follow-up, at 3-6 months after admission, 44% (95% CI 39 to 50) of evaluable patients continued to have iron deficiency and 28% (95% CI 23 to 32) were still anemic: 5% severe and 23% mild/moderate. The prevalence of iron deficiency was 44% (95% CI: 39-50). During admission, 50% of patients with anemia did not receive treatment. At discharge, 55% were untreated. CONCLUSION: The prevalence of anemia in patients hospitalized for gastroenterological diseases was very high. Anemia persisted in over a quarter of patients at the follow-up visit. Only half of hospitalized patients received treatment for anemia, even when the anemia was severe.


Assuntos
Anemia/diagnóstico , Anemia/epidemiologia , Deficiências de Ferro , Distúrbios do Metabolismo do Ferro/diagnóstico , Distúrbios do Metabolismo do Ferro/epidemiologia , Anemia/complicações , Feminino , Gastroenteropatias/complicações , Hospitalização , Humanos , Distúrbios do Metabolismo do Ferro/complicações , Masculino , Pessoa de Meia-Idade , Prevalência , Estudos Prospectivos , Estudos Retrospectivos , Espanha
18.
Pediatr Blood Cancer ; 60(10): 1671-5, 2013 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-23776184

RESUMO

BACKGROUND: Transfusion of packed red blood cells is common in pediatric cancer patients who receive chemotherapy. This study was done to identify characteristics of pediatric cancer patients at risk of hyperferritinemia secondary to frequent transfusions. PROCEDURE: In this retrospective chart review, all pediatric cancer patients who completed chemotherapy from January 2007 to January 2012 and had an assessment of serum ferritin 6 months after the end of treatment were included. Variables included: age, sex, type of cancer diagnosis, weight and body surface area (BSA) at the time of diagnosis, number of transfusions, total transfused volume (TTV), total transfused volume per body weight (TVPBW), and weight and BSA change from the time of diagnosis to the time of ferritin check. RESULTS: Of 109 eligible patients, 85 (78%) received transfusions. Sixteen patients (14.7%) had ferritin levels > 200 µg/L and four (3.7%) had ferritin levels > 1,000 µg/L. Although age, weight and BSA at cancer diagnosis, number of transfusions and TVPBW were correlated with the level of ferritin, independent risk factors were TTV (range 1,961-30,090 ml in patients with hyperferritinemia, P < 0.001) and BSA change from the time of diagnosis to the time of ferritin check (range -0.15 to 0.31 m(2) in patients with hyperferritinemia, P < 0.001). Increase in BSA was correlated with reduction of hyperferritinemia in follow-up ferritin measurements (P = 0.049). CONCLUSIONS: In addition to TTV, change in BSA is an independent predictor for the degree and possibly persistence of hyperferritinemia in pediatric cancer patients and should be considered in decisions to initiate interventions.


Assuntos
Transfusão de Eritrócitos/efeitos adversos , Distúrbios do Metabolismo do Ferro/sangue , Distúrbios do Metabolismo do Ferro/etiologia , Neoplasias/sangue , Neoplasias/terapia , Adolescente , Superfície Corporal , Peso Corporal , Criança , Pré-Escolar , Feminino , Ferritinas/sangue , Humanos , Distúrbios do Metabolismo do Ferro/epidemiologia , Masculino , Neoplasias/epidemiologia , Estudos Retrospectivos , Fatores de Risco
19.
Mov Disord ; 28(10): 1325-9, 2013 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-23736975

RESUMO

Back arching was reported in one of the very first patients with neurodegeneration with brain iron accumulation syndrome (NBIAs) published in 1936. However, recent reports have mainly focused on the genetic and imaging aspects of these disorders, and the phenotypic characterization of the dystonia has been lost. In evaluating patients with NBIAs in our centers, we have observed that action-induced dystonic opisthotonus is a common and characteristic feature of NBIAs. Here, we present a case series of patients with NBIAs presenting this feature demonstrated by videos. We suggest that dystonic opisthotonus could be a useful "red flag" for clinicians to suspect NBIAs, and we discuss the differential diagnosis of this feature. This would be particularly useful in identifying patients with NBIAs and no iron accumulation as yet on brain imaging (for example, as in phospholipase A2, group IV (cytosolic, calcium-independent) [PLA2G6]-related disorders), and it has management implications.


Assuntos
Química Encefálica , Encéfalo/fisiopatologia , Distúrbios Distônicos/fisiopatologia , Distúrbios do Metabolismo do Ferro/fisiopatologia , Doenças Neurodegenerativas/fisiopatologia , Adulto , Diagnóstico Diferencial , Distúrbios Distônicos/epidemiologia , Distúrbios Distônicos/etiologia , Feminino , Humanos , Distúrbios do Metabolismo do Ferro/complicações , Distúrbios do Metabolismo do Ferro/epidemiologia , Masculino , Doenças Neurodegenerativas/complicações , Doenças Neurodegenerativas/epidemiologia , Adulto Jovem
20.
Epidemiol Infect ; 141(1): 207-11, 2013 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-22417736

RESUMO

This study included all patients, with known HIV-1 status, admitted to hospital over a 5-year period with serum ferritin values exceeding 1500 µg/l. Markedly elevated serum ferritin levels are associated with a host of causes which poses a diagnostic dilemma, as the aetiology is often highly dependent on local epidemiology. We evaluated patients' records retrospectively to determine underlying causes of possible hyperferritinaemia. Aetiologies associated with hyperferritinaemia varied significantly depending on HIV-1 status. In patients infected with the HIV-1 virus, infectious causes predominated with Mycobacterium tuberculosis accounting for more than 50% of the patient population with an odds ratio of 17·98 (95% confidence interval 8·31-38·88) in HIV-positive compared to HIV-negative patients. Of the HIV-1-negative patients, hereditary haemochromatosis accounted for less than 2% of patients and chronic renal failure was the most common diagnosis. The finding of hyperferritinaemia should prompt determination of HIV-1 status, as this impacts significantly on aetiological epidemiology. In HIV-1-positive patients, aggressive investigation for mycobacterial infection should be undertaken in cases of combined hyperferritinaemia and positive HIV-1 serology.


Assuntos
Ferritinas/sangue , Distúrbios do Metabolismo do Ferro/epidemiologia , Distúrbios do Metabolismo do Ferro/etiologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Feminino , Infecções por HIV/complicações , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , África do Sul/epidemiologia , Atenção Terciária à Saúde , Tuberculose/complicações , Adulto Jovem
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...