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1.
Am J Obstet Gynecol ; 223(4): 516-524, 2020 10.
Artículo en Inglés | MEDLINE | ID: mdl-32184147

RESUMEN

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.


Asunto(s)
Desarrollo Fetal/fisiología , Deficiencias de Hierro , Trastornos del Metabolismo del Hierro/tratamiento farmacológico , Complicaciones del Embarazo/tratamiento farmacológico , Oligoelementos/uso terapéutico , Encéfalo/embriología , Encéfalo/crecimiento & desarrollo , Encéfalo/metabolismo , Femenino , Humanos , Hierro/metabolismo , Hierro/fisiología , Hierro/uso terapéutico , Trastornos del Metabolismo del Hierro/epidemiología , Trastornos del Metabolismo del Hierro/metabolismo , Trastornos del Metabolismo del Hierro/fisiopatología , Trastornos Mentales/epidemiología , Trastornos del Neurodesarrollo/epidemiología , Embarazo , Complicaciones del Embarazo/epidemiología , Complicaciones del Embarazo/metabolismo , Complicaciones del Embarazo/fisiopatología , Efectos Tardíos de la Exposición Prenatal/epidemiología
2.
Acta Haematol ; 143(1): 26-32, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-31302652

RESUMEN

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.


Asunto(s)
Deficiencias de Hierro , Trastornos del Metabolismo del Hierro/diagnóstico , Adolescente , Adulto , Anciano , Anemia Ferropénica/diagnóstico , Anemia Ferropénica/epidemiología , Área Bajo la Curva , Índice de Masa Corporal , Eritrocitos/citología , Femenino , Hemoglobinas/análisis , Humanos , Hierro/sangre , Trastornos del Metabolismo del Hierro/epidemiología , Masculino , Persona de Mediana Edad , Prevalencia , Curva ROC , República de Corea/epidemiología , Estudios Retrospectivos , Factores de Riesgo , Adulto Joven
3.
Support Care Cancer ; 28(4): 1639-1647, 2020 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-31278463

RESUMEN

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.


Asunto(s)
Anemia Ferropénica/epidemiología , Deficiencias de Hierro , Trastornos del Metabolismo del Hierro/epidemiología , Neoplasias/tratamiento farmacológico , Neoplasias/epidemiología , Anciano , Anciano de 80 o más Años , Anemia Ferropénica/sangre , Anemia Ferropénica/inducido químicamente , Estudios de Cohortes , Femenino , Humanos , Trastornos del Metabolismo del Hierro/sangre , Trastornos del Metabolismo del Hierro/inducido químicamente , Masculino , Persona de Mediana Edad , Prevalencia , Estudios Prospectivos , Calidad de Vida
4.
Clin Chem Lab Med ; 57(12): 1837-1845, 2019 Nov 26.
Artículo en Inglés | MEDLINE | ID: mdl-31211687

RESUMEN

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.


Asunto(s)
Apoferritinas/genética , Catarata/congénito , Trastornos del Metabolismo del Hierro/congénito , Adulto , Anciano , Anciano de 80 o más Años , Apoferritinas/análisis , Apoferritinas/sangre , Secuencia de Bases/genética , Catarata/diagnóstico , Catarata/epidemiología , Familia , Femenino , Ferritinas/genética , Pruebas Genéticas/métodos , Alemania/epidemiología , Humanos , Hierro/metabolismo , Trastornos del Metabolismo del Hierro/diagnóstico , Trastornos del Metabolismo del Hierro/epidemiología , Masculino , Persona de Mediana Edad , Mutación/genética , Linaje
5.
BMC Med ; 11: 185, 2013 Aug 22.
Artículo en Inglés | MEDLINE | ID: mdl-23968282

RESUMEN

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".


Asunto(s)
Síndrome Antifosfolípido/sangre , Ferritinas/sangre , Síndrome de Activación Macrofágica/sangre , Choque Séptico/sangre , Enfermedad de Still del Adulto/sangre , Animales , Síndrome Antifosfolípido/diagnóstico , Síndrome Antifosfolípido/epidemiología , Catarata/sangre , Catarata/congénito , Catarata/diagnóstico , Catarata/epidemiología , Enfermedad Catastrófica/epidemiología , Humanos , Mediadores de Inflamación/sangre , Trastornos del Metabolismo del Hierro/sangre , Trastornos del Metabolismo del Hierro/congénito , Trastornos del Metabolismo del Hierro/diagnóstico , Trastornos del Metabolismo del Hierro/epidemiología , Síndrome de Activación Macrofágica/diagnóstico , Síndrome de Activación Macrofágica/epidemiología , Choque Séptico/diagnóstico , Choque Séptico/epidemiología , Enfermedad de Still del Adulto/diagnóstico , Enfermedad de Still del Adulto/epidemiología
6.
Mov Disord ; 28(10): 1325-9, 2013 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-23736975

RESUMEN

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.


Asunto(s)
Química Encefálica , Encéfalo/fisiopatología , Trastornos Distónicos/fisiopatología , Trastornos del Metabolismo del Hierro/fisiopatología , Enfermedades Neurodegenerativas/fisiopatología , Adulto , Diagnóstico Diferencial , Trastornos Distónicos/epidemiología , Trastornos Distónicos/etiología , Femenino , Humanos , Trastornos del Metabolismo del Hierro/complicaciones , Trastornos del Metabolismo del Hierro/epidemiología , Masculino , Enfermedades Neurodegenerativas/complicaciones , Enfermedades Neurodegenerativas/epidemiología , Adulto Joven
7.
Pediatr Blood Cancer ; 60(10): 1671-5, 2013 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-23776184

RESUMEN

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.


Asunto(s)
Transfusión de Eritrocitos/efectos adversos , Trastornos del Metabolismo del Hierro/sangre , Trastornos del Metabolismo del Hierro/etiología , Neoplasias/sangre , Neoplasias/terapia , Adolescente , Superficie Corporal , Peso Corporal , Niño , Preescolar , Femenino , Ferritinas/sangre , Humanos , Trastornos del Metabolismo del Hierro/epidemiología , Masculino , Neoplasias/epidemiología , Estudios Retrospectivos , Factores de Riesgo
8.
Epidemiol Infect ; 141(1): 207-11, 2013 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-22417736

RESUMEN

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.


Asunto(s)
Ferritinas/sangre , Trastornos del Metabolismo del Hierro/epidemiología , Trastornos del Metabolismo del Hierro/etiología , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Niño , Preescolar , Femenino , Infecciones por VIH/complicaciones , Humanos , Lactante , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Sudáfrica/epidemiología , Atención Terciaria de Salud , Tuberculosis/complicaciones , Adulto Joven
9.
Gastroenterol Hepatol ; 36(8): 499-507, 2013 Oct.
Artículo en Español | MEDLINE | ID: mdl-23972683

RESUMEN

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.


Asunto(s)
Anemia/diagnóstico , Anemia/epidemiología , Deficiencias de Hierro , Trastornos del Metabolismo del Hierro/diagnóstico , Trastornos del Metabolismo del Hierro/epidemiología , Anemia/complicaciones , Femenino , Enfermedades Gastrointestinales/complicaciones , Hospitalización , Humanos , Trastornos del Metabolismo del Hierro/complicaciones , Masculino , Persona de Mediana Edad , Prevalencia , Estudios Prospectivos , Estudios Retrospectivos , España
10.
Eur J Appl Physiol ; 112(2): 513-23, 2012 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-21594695

RESUMEN

Iron depletion seems to occur more frequently among athletes than in the general population and may affect performance capacity. Only little information is available about the prevalence of iron status abnormalities in young elite athletes and whether iron depletion is associated with gender, sport, age or nutrition- and exercise-related factors in this group. Hence, diet, exercise and haematological data from 193 elite athletes (96 males, 97 females; 16.2 ± 2.7 years) from 24 different sports were analyzed retrospectively. Most female athletes failed to meet the recommended daily allowance for iron, even though dietary iron density was higher than in males (5.75 ± 0.78 vs. 6.17 ± 0.98 mg/1,000 kcal; P = 0.001). Iron depletion (serum ferritin < 35 µg/L) occurred in 31% of male and 57% of female athletes (P < 0.001). Low haemoglobin (males: <13 g/dL; females: <12 g/dL) and haematocrit (males: <40%; females: <36%) values were equally prevalent in both genders [haemoglobin: 7.3% (males), 6.2% (females); haematocrit: 13.5% (males); 15.5% (females)]. In females, reduced ferritin levels were associated with a lower dietary iron density (5.9 ± 0.8 vs. 6.6 ± 1.1 mg/1,000 kcal; P = 0.002). Males with iron depletion had a significantly higher estimated energy expenditure (48.7 ± 7.0 vs. 44.4 ± 7.6 kcal/kg/day; P = 0.009).


Asunto(s)
Ejercicio Físico , Trastornos del Metabolismo del Hierro/epidemiología , Trastornos del Metabolismo del Hierro/fisiopatología , Hierro de la Dieta/análisis , Actividad Motora , Deportes/estadística & datos numéricos , Adolescente , Femenino , Alemania/epidemiología , Humanos , Masculino , Prevalencia , Distribución por Sexo , Factores Sexuales
11.
Hum Genomics ; 4(4): 250-62, 2010 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-20511138

RESUMEN

The hereditary hyperferritinaemia-cataract syndrome (HHCS) is characterised by an autosomal dominant cataract and high levels of serum ferritin without iron overload. The cataract develops due to L-ferritin deposits in the lens and its pulverulent aspect is pathognomonic. The syndrome is caused by mutations within the iron-responsive element of L-ferritin. These mutations prevent efficient binding of iron regulatory proteins 1 and 2 to the IRE in L-ferritin mRNA, resulting in an unleashed ferritin translation. This paper reviews all 31 mutations (27 single nucleotide transitions and four deletions) that have been described since 1995. Laboratory test showing hyperferritinaemia, normal serum iron and normal transferrin saturation are indicative for HHCS after exclusion of other causes of increased ferritin levels (inflammation, malignancy, alcoholic liver disease) and should prompt an ophthalmological consultation for diagnostic confirmation. Invasive diagnostics such as liver biopsy are not indicated. HHCS is an important differential diagnosis of hyperferritinaemia. Haematologists, gastroenterologists and ophthalmologists should be aware of this syndrome to spare patients from further invasive diagnosis (liver biopsy), and also from a false diagnosis of hereditary haemochromatosis followed by venesections. Patients diagnosed with HHCS should be counselled regarding the relative harmlessness of this genetic disease, with early cataract surgery as the only clinical consequence.


Asunto(s)
Catarata/genética , Ferritinas/metabolismo , Trastornos del Metabolismo del Hierro/genética , Mutación , Fenotipo , Secuencia de Bases , Catarata/epidemiología , Ferritinas/genética , Predisposición Genética a la Enfermedad , Humanos , Trastornos del Metabolismo del Hierro/diagnóstico , Trastornos del Metabolismo del Hierro/epidemiología , Modelos Biológicos , Datos de Secuencia Molecular , Conformación de Ácido Nucleico , Síndrome
12.
Isr Med Assoc J ; 13(2): 91-5, 2011 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-21443034

RESUMEN

BACKGROUND: Multiple sclerosis (MS) is a common demyelnating disorder of the central nervous system (CNS) and ethiopathogenesis has yet to be fully elucidated. The disease may present in several clinical forms that are closely associated with disease morbidity. In recent years various environmental and hormonal factors have been implicated in the pathogenesis of autoimmunity. OBJECTIVES: To evaluate ferritin and prolactin levels in MS patients and their correlation with clinical manifestations of the disease. METHODS: Serum samples from 150 multiple sclerosis patients were evaluated for demographic characteristics, clinical parameters as well as prolactin and ferritin levels utilizing the Liaison chemiluminescent immunoassays (DiaSorin, Italy). Sera from 100 matched healthy donors were used as controls. RESULTS: Hyperprolactinemia was documented in 10 of 150 MS patients (6.7%) and hyperferritinemia in 12 (8%), both of which were significantly more common in this group compared with healthy controls (P < 0.01 and P = 0.02 respectively). Among female MS patients, elevated prolactin levels were related to the secondary-progressive type of disease (P = 0.05), whereas hyperferritinemia was associated with male gender (P = 0.03) and with the relapsing-progressive type of the disease (P = 0.02). An inverse association was found between hyperferritinemia and the relapsing-remitting type of MS in male patients (P = 0.05) CONCLUSIONS: Our results suggest a plausible association between these biomarkers and certain clinical types and gender among MS patients. Further studies combining clinical data, CNS imaging and these markers are warranted.


Asunto(s)
Ferritinas/sangre , Esclerosis Múltiple/sangre , Prolactina/sangre , Adulto , Biomarcadores/sangre , Femenino , Humanos , Hiperprolactinemia/epidemiología , Incidencia , Trastornos del Metabolismo del Hierro/epidemiología , Masculino , Persona de Mediana Edad , Esclerosis Múltiple/epidemiología
13.
Brain Dev ; 43(10): 1013-1022, 2021 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-34272103

RESUMEN

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.


Asunto(s)
Trastornos del Metabolismo del Hierro/diagnóstico , Distrofias Neuroaxonales/diagnóstico , Neurodegeneración Asociada a Pantotenato Quinasa/diagnóstico , Niño , Femenino , Humanos , India/epidemiología , Trastornos del Metabolismo del Hierro/epidemiología , Masculino , Distrofias Neuroaxonales/epidemiología , Neurodegeneración Asociada a Pantotenato Quinasa/epidemiología , Estudios Retrospectivos
14.
Parkinsonism Relat Disord ; 84: 98-104, 2021 03.
Artículo en Inglés | MEDLINE | ID: mdl-33607528

RESUMEN

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.


Asunto(s)
Globo Pálido/patología , Trastornos del Metabolismo del Hierro , Proteínas de la Membrana , Membranas Mitocondriales , Proteínas Mitocondriales , Distrofias Neuroaxonales , Sustancia Negra/patología , Adolescente , Adulto , Niño , Femenino , Globo Pálido/diagnóstico por imagen , Humanos , Trastornos del Metabolismo del Hierro/epidemiología , Trastornos del Metabolismo del Hierro/genética , Trastornos del Metabolismo del Hierro/patología , Trastornos del Metabolismo del Hierro/fisiopatología , Imagen por Resonancia Magnética , Distrofias Neuroaxonales/epidemiología , Distrofias Neuroaxonales/genética , Distrofias Neuroaxonales/patología , Distrofias Neuroaxonales/fisiopatología , Estudios Retrospectivos , Federación de Rusia/epidemiología , Sustancia Negra/diagnóstico por imagen , Secuenciación del Exoma
15.
Harefuah ; 149(5): 309-14, 335, 2010 May.
Artículo en Hebreo | MEDLINE | ID: mdl-20929071

RESUMEN

INTRODUCTION: The prevalence of iron deficiency anemia among infants and children over the world ranges between 2%-22.5%. Iron is essential for intact development of the body, and especiaLLy for the development of the central nervous system in the first two years of Life. OBJECTIVES: To examine, through a review of the literature, if there is any relation between iron deficiency and iron deficiency anemia (IDA), and cognitive and mental development in the first two years of life. METHODS: A review of 10 longitudinal and clinical trials from the last 16 years, in which this correlation was examined. RESULTS: According to recent studies, the relation between iron deficiency and iron deficiency anemia to cognitive and mental development in childhood is stiLL unclear. Followup studies found poorer cognitive scores on measures of mental and cognitive functioning in the long run. Intervention trials in which iron supplementation was administered to infants with IDA, found an improvement in Language and mental deveLopmental test scores. However, micronutrient intervention, or zinc and iron combined or alone, did not improve performance on mental tests. The studies differed in the characteristics of the study population, definition of exposure, type of treatment and confounders. CONCLUSIONS: It is difficult to assess a causal relationship between iron deficiency and iron deficiency anemia, and cognitive and mental development in childhood, mainly due to methodoLogical and ethical reasons. However, most studies from recent years support a negative association. The Ministry of Health in israel recommends iron as a preventive action for iron deficiency in infants.


Asunto(s)
Anemia Ferropénica/complicaciones , Trastornos del Conocimiento/etiología , Trastornos del Metabolismo del Hierro/complicaciones , Anemia Ferropénica/epidemiología , Anemia Ferropénica/prevención & control , Niño , Preescolar , Cognición/fisiología , Humanos , Lactante , Recién Nacido , Trastornos del Metabolismo del Hierro/epidemiología , Trastornos del Metabolismo del Hierro/prevención & control , Competencia Mental , Trastornos Mentales/etiología , Trastornos Mentales/psicología
16.
Dig Liver Dis ; 51(4): 505-509, 2019 04.
Artículo en Inglés | MEDLINE | ID: mdl-30236765

RESUMEN

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.


Asunto(s)
Enfermedades Autoinmunes/sangre , Gastritis Atrófica/sangre , Micronutrientes/deficiencia , Deficiencia de Vitamina B 12/epidemiología , Deficiencia de Vitamina D/epidemiología , Adulto , Anciano , Anciano de 80 o más Años , Enfermedades Autoinmunes/complicaciones , Enfermedad Crónica , Endoscopía Gastrointestinal , Femenino , Deficiencia de Ácido Fólico/complicaciones , Deficiencia de Ácido Fólico/epidemiología , Gastritis Atrófica/complicaciones , Gastritis Atrófica/patología , Humanos , Trastornos del Metabolismo del Hierro/complicaciones , Trastornos del Metabolismo del Hierro/epidemiología , Masculino , Persona de Mediana Edad , Prevalencia , Deficiencia de Vitamina B 12/complicaciones , Deficiencia de Vitamina D/complicaciones
17.
J Am Coll Nutr ; 27(2): 337-41, 2008 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-18689568

RESUMEN

OBJECTIVE: To investigate prevalence of iron deficiency and examine the relationship between iron status and Health-related Quality of Life among female students. DESIGN: Cross-sectional study. SUBJECTS AND SETTING: Data were collected from 543 female students, aged 17 to 38 years, attending University or secondary schools in Clermont-Ferrand (France) and its metropolitan area. Three groups were defined, according to the rate of serum ferritin: iron deficient (serum ferritin < 15 microg/L), iron depletion borderline (serum ferritin 15-20 microg/L), and iron replete (serum ferritin > 20 microg/L). Those 3 groups of menstruating female students were compared in terms of health-related quality of life using univariate analysis. MEASURES OF OUTCOME: Health-related Quality of Life based on SF-36 questionnaire, and iron status measured by serum ferritin. RESULTS: The prevalence of iron deficiency was 19.3%, the prevalence of borderline iron status was 11.4%. Regarding the SF-36 questionnaire, the only significant difference between iron deficient and iron replete female students concerned the dimension reflecting 'general health', which was significantly lower in iron deficient group (p = 0.015). CONCLUSION: Iron deficiency seems to impair the perceived general health in female students. Further research should be conducted on this little known subject.


Asunto(s)
Ferritinas/sangre , Trastornos del Metabolismo del Hierro/sangre , Trastornos del Metabolismo del Hierro/epidemiología , Estudiantes , Adolescente , Adulto , Estudios Transversales , Femenino , Francia/epidemiología , Humanos , Calidad de Vida , Estadísticas no Paramétricas , Encuestas y Cuestionarios
18.
Acta Med Port ; 31(9): 478-482, 2018 Sep 28.
Artículo en Inglés | MEDLINE | ID: mdl-30332371

RESUMEN

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.


Asunto(s)
Deficiencias de Hierro , Trastornos del Metabolismo del Hierro/complicaciones , Trastornos del Metabolismo del Hierro/diagnóstico , Síndrome Metabólico/complicaciones , Obesidad/complicaciones , Adulto , Estudios Transversales , Femenino , Ferritinas/sangre , Humanos , Trastornos del Metabolismo del Hierro/sangre , Trastornos del Metabolismo del Hierro/epidemiología , Masculino , Síndrome Metabólico/sangre , Obesidad/sangre , Prevalencia , Estudios Retrospectivos
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