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1.
Environ Res ; 181: 108903, 2020 02.
Artículo en Inglés | MEDLINE | ID: mdl-31806290

RESUMEN

Exposure to polycyclic aromatic hydrocarbons (PAHs) was assessed in a cohort of 394 subjects, 198 residing in three small municipalities near a new waste-to-energy (WTE) incinerator located in the Turin area, and 196 residing in neighbouring control areas in the town (of Turin). The assessment of exposure to PAHs was part of a human biomonitoring study aimed at assessing potential incremental exposure to pollutants related to incineration activities through the analysis of such pollutants before the plant start-up, and after one and three years of operation. The exposure assessment described in this study was carried out before the start-up of the WTE incinerator. Ten monohydroxy-PAHs (OH-PAHs) were analyzed in urine samples, consisting in the principal metabolites of naphthalene (NAP), fluorene (FLU), phenanthrene (PHE), and pyrene (PYR). Concentrations of the sum of OH-PAHs (Σ10OH-PAHs) were in the range of 525-85200 ng/g creatinine, with P50 equal to 6770 ng/g creatinine. Metabolites of naphthalene were found at the highest concentrations (P50 values of 892 and 4300 ng/g creatinine for 1- and 2-OH-NAP, respectively) followed by the three OH-FLUs (P50 values of individual compounds in the range of 58.2-491 ng/g creatinine), the four OH-PHEs (P50 values in the range of 30.5-145 ng/g creatinine), and 1-OH-PYR (P50 value of 82.8 ng/g creatinine). Concentrations of 1-OH-NAP, 9-OH-FLU, 1-, 2-, 3, 4-OH-PHE, and 1-OH-PYR were significantly lower in subjects living near the WTE plant compared to those living in the town of Turin, with differences between the two groups in the range 14-31%. Smoking habits markedly influence the urinary concentrations OH-PAHs. Median concentrations of the single metabolites in smokers were from 1.4 fold (for 4-OH-PHE) to 14 fold higher (for 3-OH-FLU) than those observed in non-smokers. The heating system used also resulted to be a major contributor to PAH exposure. Concentrations of OH-PAHs were generally comparable with those observed in other industrialized countries. The profile pattern was consistent with those reported in the literature. Concentrations of OH-PAHs assessed in this study may be considered indicative of the background exposure to PAHs for adult population living in an urban and industrialized area.


Asunto(s)
Monitoreo del Ambiente , Incineración , Hidrocarburos Policíclicos Aromáticos , Adulto , Monitoreo Biológico , Biomarcadores , Ciudades , Humanos
2.
Minerva Pediatr ; 2020 Dec 11.
Artículo en Inglés | MEDLINE | ID: mdl-33305918

RESUMEN

BACKGROUND: Total nucleated cell (TNC) count is the most important biological feature to consider in assessing the quality of umbilical cord blood (UCB) for haematopoietic stem cell (HSC) transplantation. Certain obstetric factors have been reported to increase TNC count in UCB units collected for transplantation. The aim of our study was to analyze how various maternal, neonatal and obstetric factors affected TNC count in the UCBs we collected for our cord blood bank in southern Italy. MATERIAL AND METHODS: We performed a retrospective analysis of 634 medical records of UCBs collected by Calabria Cord Blood Bank (CCBB), between January 1, 2010 and December 31, 2016. We analyzed various maternal, neonatal and obstetric variables factors and related this factor with the characteristic of TNC. RESULTS: We found that the average number of TNCs was significantly greater in vaginal delivery than in caesarean delivery. We also found that TNCs were higher in the 40th week of pregnancy and when Apgar 1' scores were ≤ 9. The effect of a newborn's gender was less evident on TNC count. CONCLUSIONS: Knowledge of factors predictive of a higher TNC count would help cord blood banks more efficiently identify donors likely to yield high-quality UCBs for transplantation.

3.
Minerva Pediatr ; 71(2): 139-143, 2019 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-27830928

RESUMEN

BACKGROUND: Celiac disease (CD) is an immunologically-mediated enteropathy resulting in small-bowel mucosal villous atrophy with crypt hyperplasia. Iron malabsorption is usually observed in CD. Only few studies investigated oral iron absorption in subjects with gastrointestinal diseases and Iron Deficiency Anemia (IDA), using the oral iron absorption test (OIAT). We considered useful to investigate the OIAT, using ferrous bisglycinate chelate (FBC), in patients with CD at diagnosis or on gluten free diet (GFD) from at least 1 year. METHODS: A total of 25 patients with CD (3-18 years old) and iron depletion, at diagnosis of CD (N.=12) or on GFD from at least 12 months (N.=13), were considered. Serum iron was evaluated at baseline (T0) and after 3 hours (T1) from the oral iron ingestion. Statistical analyses were conducted using SPSS 21.0 software for Mac. RESULTS: OIAT was well tolerated by all patients. An important increase of the serum iron at T1, of at least twice the baseline values, occurred in all patients except in one (P value <0.0005). CONCLUSIONS: These results demonstrated good efficacy of the FBC, not only in patients with CD on GFD but also in children with newly diagnosed CD with the characteristic intestinal lesions.


Asunto(s)
Anemia Ferropénica/etiología , Enfermedad Celíaca/fisiopatología , Dieta Sin Gluten , Compuestos Ferrosos/administración & dosificación , Glicina/administración & dosificación , Administración Oral , Adolescente , Enfermedad Celíaca/complicaciones , Enfermedad Celíaca/dietoterapia , Niño , Preescolar , Femenino , Compuestos Ferrosos/farmacocinética , Glicina/farmacocinética , Humanos , Masculino
4.
J Environ Sci Health B ; 54(6): 441-448, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31131694

RESUMEN

The presence of the insecticide Fipronil and its main products of toxicological relevance, namely Sulfone and Desulfinyl, was assessed in 161 residential house dust samples in the absence (N = 101) and presence (N = 60) of cats and dogs in Italy. High-resolution mass spectrometry analysis revealed a significant difference (p < 0.001) in the dust contamination in the presence of pets (median: 467 vs. 24 ng/g dry weight), even if the highest value was found in the absence of pets (82,069 vs. 67,799 ng/g dry weight). Fipronil intake estimates from dust in toddlers, computed according to US-EPA and EU-ECHA guidelines, ranged from 333 to 556 and from 20 to 34 ng/kg per day for acute and chronic scenario, respectively. Dust seemed not able itself to lead to Fipronil overexposure with respect to acute and chronic toxicity health-based guidance values. Kittens were potentially overexposed to Fipronil under both acute (26,076 ng/kg per day) and chronic (1,633 ng/kg per day) scenarios. The mild symptomatology associated with acute intoxication could possibly determine case underreporting within pharmacosurveillance schemes. Its administration was estimated in 7.3-9.7 tons per year. Such a range suggests its prudent use under strict veterinary control to prevent pest resistance and ecotoxicological outcomes.


Asunto(s)
Polvo/análisis , Exposición a Riesgos Ambientales/análisis , Mascotas , Pirazoles/análisis , Contaminación del Aire Interior/análisis , Animales , Gatos , Perros , Insecticidas/análisis , Insecticidas/toxicidad , Italia , Pirazoles/toxicidad , Medición de Riesgo/métodos , Drogas Veterinarias/análisis
5.
Artículo en Inglés | MEDLINE | ID: mdl-29553911

RESUMEN

The domestic cat (Felis catus) was used as a sentinel of exposure to polychlorobiphenyls (PCBs) in indoor urban environments y. Sera from 120 cats were pooled to form 30 different groups selected by age (<2 years; > 2 ≤ 8 years; > 8 years), sex, municipality (Bologna and Turin) and environment (indoor vs. outdoor). Test portions of 1 mL were analyzed by means of gas chromatography coupled to high-resolution mass spectrometry (GC-HRMS) for six selected indicators non-dioxin-like PCBs (∑6 PCBs: congeners #28, #52, #101, #132, #153 and #180) and the results were computed in the upper-bound mode. The internal dose of PCBs attributable to the cats' alimentary lipid intake ranged from 32.4 to 1,446 ng/g (P50 165; mean 258). The Wilcoxon test revealed significantly lower PCB burden in "outdoor" groups than in "indoor" groups. Age correlated well with the heptachlorinated and most bio-accumulative congener, PCB #180, and slightly with hexachlorinated PCBs #138 and #153. Contamination attributable to house dust collected in 15 living-rooms ranged from 10.0 to 279 ng/g dry weight (P50 97.4; mean 94.4). Exposure estimates indicated a 0.6-16 ng/kg bw range of daily ∑6 PCB intake from a default value of 200 mg/cat of dust ingestion. The intake of PCBs due to dust ingestion fell within the same order of magnitude as that computed from a 60 g daily intake of commercial dry pet foods, while inhalation accounted for 0.21-8.2 ng/kg bw/day, on setting the nominal ∑6 PCB contamination in outdoor and indoor air at 0.37 and 15 ng/m3, respectively. Italian indoor cats could be exposed to higher levels of ∑6 PCBs than the Reference Dose (RfD) of 10 ng/kg/bw/day; this supports the World Health Organization's statement that the quality of the indoor environment is a major determinant of health.


Asunto(s)
Contaminación del Aire Interior/análisis , Gatos/sangre , Exposición a Riesgos Ambientales/análisis , Vivienda , Bifenilos Policlorados/análisis , Bifenilos Policlorados/sangre , Animales , Análisis Químico de la Sangre/métodos , Análisis Químico de la Sangre/veterinaria , Ciudades , Polvo/análisis , Femenino , Cromatografía de Gases y Espectrometría de Masas , Humanos , Italia , Masculino , Mascotas/sangre , Características de la Residencia
6.
J Environ Sci Health B ; 52(9): 699-709, 2017 Sep 02.
Artículo en Inglés | MEDLINE | ID: mdl-28679077

RESUMEN

The occurrence of pesticides intended for non-agricultural use was investigated in 206 dust samples drawn from vacuum-cleaner bags from residential flats in Italy. The multi-residue analysis targeted on 95 different active principles was performed with UPLC-MS/MS, with a Limit of Quantification (LOQ) of 0.008 µg/g dry weight. The results indicated the presence of imidacloprid (IMI) and carbendazim (CARB) in 30% and 26% of the samples, with a mean and P95 concentration between 1.6 and 39 and between 0.08 and 4.9 µg/g, respectively. Combined presence of two biocides was noted in 19.4% samples, of three biocides in 9.2% samples, of four biocides in 3.4% samples, and of five and six biocides in 0.5% and 1% samples, respectively. According to the estimated dust intake in infants/toddlers aged 6-24 months (16-100 mg d-1) and cats (200 mg d-1), it was possible to obtain risk characterization with respect to the Acceptable Daily Intake (ADI) for IMI of 0.060 mg/kg body weight (bw) proposed by the European Food Safety Authority (EFSA) and the chronic Population Adjusted Dose (cPAD) of 0.019 mg/kg bw d-1 by US-EPA. Under the worst-case scenario, the presence of IMI in dust indicates potential exceedance of the cPAD in kittens, to be considered as sentinel also accounting for combined exposure. This study highlights the relevance of consumer empowerment about the responsible use of pesticides as biocidal products in indoor environment.


Asunto(s)
Bencimidazoles/análisis , Carbamatos/análisis , Polvo/análisis , Exposición a Riesgos Ambientales/análisis , Neonicotinoides/análisis , Nitrocompuestos/análisis , Contaminación del Aire Interior , Animales , Gatos , Preescolar , Estudios Transversales , Desinfectantes/análisis , Humanos , Imidazoles/análisis , Lactante , Italia , Plaguicidas/análisis , Espectrometría de Masas en Tándem
7.
Minerva Pediatr ; 68(6): 441-455, 2016 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-27768015

RESUMEN

Hemolytic uremic syndrome (HUS) is a thrombotic microangiopathy defined by thrombocytopenia, non-immune microangiopathic hemolytic anemia and acute renal failure. HUS is typically classified into two primary types: 1) HUS due to infections, often associated with diarrhea (D+HUS, Shiga toxin-producing Escherichia Coli-HUS), with the rare exception of HUS due to a severe disseminated infection caused by Streptococcus; 2) HUS related to complement, such HUS is also known as "atypical HUS" and is not diarrhea associated (D-HUS, aHUS); but recent studies have shown other forms of HUS, that can occur in the course of systemic diseases or physiopathological conditions such as pregnancy, after transplantation or after drug assumption. Moreover, new studies have shown that the complement system is an important factor also in the typical HUS, in which the infection could highlight an underlying dysregulation of complement factors. Clinical signs and symptoms may overlap among the different forms of HUS. Shiga toxin-producing Escherichia Coli (STEC) infection cause a spectrum of clinical sings ranging from asymptomatic carriage to non-bloody diarrhea, hemorrhagic colitis, HUS and death. The average interval between ingestion of STEC and illness manifestation is approximately 3 days, although this can vary between 2 and 12 days. Patients with pneumococcal HUS usually have a severe clinical picture with microangiopathic hemolytic anemia, respiratory distress, neurological involvement. The atypical HUS, in contrast to STEC-HUS which tends to occur as a single event, is a chronic condition and involves a poorer prognosis. Early diagnosis and identification of underlying pathogenic mechanism allow instating specific support measures and therapies. Typical management of STEC-HUS patients relies on supportive care of electrolyte and water imbalance, anemia, hypertension and renal failure. For the aHUS the initial management is supportive and similar to the approach for STEC-HUS; currently we have moved from the historic plasma therapy to new therapeutic approaches, first of all eculizumab, a monoclonal antibody that blocks the C5 cascade. This drug has shown an improvement in platelet count, cessation of hemolysis, improvement of renal function within a few days after the treatment. In patients with end-stage renal disease (ESRD) renal transplantation from a non-related donor and prophylactic administration of eculizumab to prevent recurrent disease in the allograft could be considered.


Asunto(s)
Anticuerpos Monoclonales Humanizados/administración & dosificación , Síndrome Hemolítico-Urémico/fisiopatología , Escherichia coli Shiga-Toxigénica/aislamiento & purificación , Niño , Diarrea/etiología , Electrólitos/administración & dosificación , Síndrome Hemolítico-Urémico/complicaciones , Síndrome Hemolítico-Urémico/terapia , Humanos , Fallo Renal Crónico/etiología
8.
Minerva Pediatr ; 68(1): 1-4, 2016 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-26864718

RESUMEN

BACKGROUND: Celiac disease (CD) in children may occur with a wide spectrum of clinical manifestations: anemia is the most frequent extraintestinal manifestation, iron deficiency anemia (IDA) is the common presentation. In our study we aimed to assess IDA condition in a large cohort of pediatric patients with newly diagnosed CD. METHODS: Our study includes a cohort of 518 children (340 females and 178 males), 6 months-18 years old, joined between January 1990 and January 2013. We have analyzed hematological parameters and iron balance: serum iron, serum ferritin and serum transferrin levels. The diagnosis of IDA was considered on the basis of hemoglobin levels below -2SD, associated with serum iron and ferritin reduction, serum transferrin increase; all compared with the normal reference values for age. RESULTS: Of all patients, 156 patients (30.1%) had anemia, including 103 females (19.8%) and 53 males (10.2%); of these, 112 (21.62%) had IDA (in 18 cases associated with α- or ß-thalassemia trait), 22 were thalassemic trait without iron deficiency and the remaining 19 suffered from other forms of anemia. One hundred fifteen patients (22.20%) with low ferritin levels but normal hemoglobin levels were considered as preanemic iron deficient patients. CONCLUSION: Our data confirm that iron depletion and IDA represent a frequent finding at the diagnosis of CD. This significant relation existing between CD and iron deficiency should be considered by pediatricians at the diagnosis of CD in order to treat the patients.


Asunto(s)
Anemia Ferropénica/epidemiología , Enfermedad Celíaca/complicaciones , Hemoglobinas/metabolismo , Hierro/sangre , Adolescente , Anemia Ferropénica/etiología , Enfermedad Celíaca/diagnóstico , Niño , Preescolar , Estudios de Cohortes , Femenino , Ferritinas/sangre , Humanos , Lactante , Masculino , Estudios Retrospectivos , Transferrina/metabolismo
9.
Regul Toxicol Pharmacol ; 69(1): 105-12, 2014 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-24657489

RESUMEN

A Seafood Frequency Questionnaire (SFQ) broken down in more than 42 items with 8-week coverage was interview-administered to 278 adults aged 19-82years (167 women, 98 in the reproductive age 19-45years, and 111 men), resident on the Italian Mediterranean shore and frequent buyer at local fish markets. Methylmercury (MeHg) intake on individual basis was estimated for a selected occurrence equal to the median value+Median Absolute Deviation (MAD) in each seafood species reported (conservative scenario). MeHg occurrence was derived from an extensive seafood database referred to years 2009-2011. Accounting for an average body weight of 62.2kg, 24.6% of women resulted overexposed with respect to the European Food Safety Authority (EFSA) Tolerable Weekly Intake (TWI) for MeHg of 1.3µg/kg bw, with a mean of 0.92µg/kg bw. In the vulnerable group aged 19-45years, 29.6% exceeded the TWI. Rather than the amount of seafood consumed, the seafood choice appears to be the main determinant of the MeHg intake. Risk awareness was reported in the 49% of SFQs. Uncertainties related to such estimates from questionnaires are discussed, in order to give adequate health recommendations without compromising seafood consumption in the Mediterranean region.


Asunto(s)
Contaminación de Alimentos/análisis , Compuestos de Metilmercurio/toxicidad , Alimentos Marinos/análisis , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Exposición a Riesgos Ambientales/análisis , Femenino , Humanos , Italia , Masculino , Mar Mediterráneo , Persona de Mediana Edad , Encuestas y Cuestionarios , Adulto Joven
10.
Artículo en Inglés | MEDLINE | ID: mdl-38913259

RESUMEN

In Brescia , a highly industrialized city in the Lombardy Region (Northern Italy) classified as a SIN (Contaminated Site of National Interest), a human biomonitoring study was carried out on breast milk of two groups of women residing in areas with presumably different levels of exposure to polychlorodibenzo-p-dioxins, polychlorodibenzofurans, and polychlorobiphenyls. This study was aimed at evaluating the possible difference between women living in Brescia and women living far from it but in the same Region. Between 2016 and 2018, 82 women were enrolled (41 "exposed" subjects and 41 "not exposed"), breast milk samples were collected, and a specific questionnaire was administered to the donors. Data obtained were processed by robust regression and Principal Component Factor Analysis. The differences in concentration between the two groups were significant for all the classes of analytes (except for PCDDs). The concentration increase rates from the not exposed to the exposed group resulted highly significant: some PCB congeners showed increase rates more than 1000 ng/g lb per one-unit change of the independent variable. Among the variables significantly associated with the observed concentrations, age showed the greatest influence, while BMI showed a counteracting effect. Consumption of vegetable oil and fruit resulted to possibly influence the chemicals body burden. For the not exposed group, the levels appear to be in line with the decreasing trend (2001-2018) observed for these contaminants in Italy.

11.
Regul Toxicol Pharmacol ; 65(2): 269-77, 2013 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-23313771

RESUMEN

Mercury (Hg) settlements in the Mediterranean Sea determine a potential toxicological relevance of seafood intakes for coastal populations. To assess this possibility, fish, molluscs, and crustaceans of commercial size of 69 different species were sampled and analyzed for total mercury (Hg(TOT)) from georeferenced areas and evaluated for their compliance with the European Union Maximum Residue Limits of 0.5 and 1.0 mg/kg wet weight (ww). Accounting for the weekly estimated seafood intake in the Italian coastal population (mean 469-626 g/person/week) it was then possible to recover threshold contamination values in seafood. Under a Tolerable Weekly Intake of 1.3 µg/kg/bw/week, a threshold seafood contamination <0.10 mg/kg ww has been derived for sensitive groups. A suitable algorithm based on the parallel MeHg and Hg(TOT) analysis on the most consumed species, helped to refine the uncertainties related to the conservative assumption in seafood all the Hg(TOT) present is in form of MeHg. This work aims to improve the link between the risk management and risk assessment strategies, with the identification of those fish and seafood species, that, when regularly consumed, could determine or prevent potential Hg(TOT)/MeHg overintakes in sensitive groups.


Asunto(s)
Seguridad de Productos para el Consumidor , Contaminación de Alimentos/análisis , Compuestos de Mercurio/análisis , Intoxicación por Mercurio/prevención & control , Alimentos Marinos/análisis , Adolescente , Adulto , Niño , Preescolar , Monitoreo del Ambiente , Femenino , Humanos , Italia/epidemiología , Masculino , Mar Mediterráneo , Intoxicación por Mercurio/epidemiología , Persona de Mediana Edad , Alimentos Marinos/toxicidad , Adulto Joven
12.
Minerva Pediatr (Torino) ; 75(2): 188-196, 2023 04.
Artículo en Inglés | MEDLINE | ID: mdl-28472875

RESUMEN

BACKGROUND: Our aim is to compare data obtained through actigraphy with data from parental diaries to evaluate their concordance. METHODS: We enrolled 55 hospitalized infants aged 1-12 months with a gestational age higher than 35 weeks and without sleep disorders, complications due to perinatal events or movement deficits. They were monitored using both methods for 24 hours. Total diurnal and nocturnal sleep times and the numbers of awakenings were evaluated. Actigraph data were analyzed with Sadeh's algorithm. RESULTS: Sleep time was analyzed in 51 infants. The average sleep time was 724.33 (±104.69) minutes according to the diaries and 625.18 (±109.14) minutes according to the actigraphy data, yielding a difference of 99.16 (±97.53) minutes (P<0.0001). The average number of awakenings was 8.65 (±3.78) according to the diaries and 13.43 (±5.09) according to the actigraphy data, with a difference of -4.78 (±4.50) (P<0.0001). A low concordance (≤0.66) was found between the two methods. The two methods provided different results (P<0.05) regarding nocturnal and diurnal sleep. After accounting for differences in disease and feeding types, the actigraphy and diary data were significantly different except for the number of daily awakenings. Concordances were higher in infants with respiratory diseases and those who were breastfed, except for the evaluation of nocturnal sleep. CONCLUSIONS: Concordance between actigraphy and parental reporting is low. Actigraphy may be a useful and easy to use method for collecting data on infants' sleep than a parental diary, but actigraphy data should be analyzed in conjunction with infants' passive movement records.


Asunto(s)
Actigrafía , Sueño , Femenino , Embarazo , Humanos , Lactante , Actigrafía/métodos , Padres , Movimiento , Lactancia Materna
13.
Environ Sci Pollut Res Int ; 30(16): 47012-47024, 2023 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-36735124

RESUMEN

Polychlorinated biphenyls (PCBs) are industrial products extensively used in the past. Because of their widespread presence and toxic effects, the international community adopted control measures to reduce their release into the environment. Currently, PCB concentrations are decreasing, but humans are still exposed. In this paper, we reported the results of a study concerning PCB concentrations in human serum samples collected in Italy over two decades. The aim of the study was to investigate the trend of major determinants of PCB human exposure, several decades after the end of their production. PCB concentrations ranged over three orders of magnitude (from 0.4 to 958 ng/g lipid), with a median value of 85 ng/g lipid. We identified age, sampling year, body mass index, sex, and living near hot spots or being occupationally exposed as relevant factors in determining body burden. Our results can give indications to refine regulatory policies on PCBs in Italy, with particular attention to the disposal of residue PCB-containing products. To improve control measures can further decrease the exposure of citizens to PCBs, limit health implications, and improve citizens' perception about chemical risk management.


Asunto(s)
Bifenilos Policlorados , Humanos , Bifenilos Policlorados/análisis , Italia , Lípidos
14.
N Engl J Med ; 360(5): 447-58, 2009 Jan 29.
Artículo en Inglés | MEDLINE | ID: mdl-19179314

RESUMEN

BACKGROUND: We investigated the long-term outcome of gene therapy for severe combined immunodeficiency (SCID) due to the lack of adenosine deaminase (ADA), a fatal disorder of purine metabolism and immunodeficiency. METHODS: We infused autologous CD34+ bone marrow cells transduced with a retroviral vector containing the ADA gene into 10 children with SCID due to ADA deficiency who lacked an HLA-identical sibling donor, after nonmyeloablative conditioning with busulfan. Enzyme-replacement therapy was not given after infusion of the cells. RESULTS: All patients are alive after a median follow-up of 4.0 years (range, 1.8 to 8.0). Transduced hematopoietic stem cells have stably engrafted and differentiated into myeloid cells containing ADA (mean range at 1 year in bone marrow lineages, 3.5 to 8.9%) and lymphoid cells (mean range in peripheral blood, 52.4 to 88.0%). Eight patients do not require enzyme-replacement therapy, their blood cells continue to express ADA, and they have no signs of defective detoxification of purine metabolites. Nine patients had immune reconstitution with increases in T-cell counts (median count at 3 years, 1.07x10(9) per liter) and normalization of T-cell function. In the five patients in whom intravenous immune globulin replacement was discontinued, antigen-specific antibody responses were elicited after exposure to vaccines or viral antigens. Effective protection against infections and improvement in physical development made a normal lifestyle possible. Serious adverse events included prolonged neutropenia (in two patients), hypertension (in one), central-venous-catheter-related infections (in two), Epstein-Barr virus reactivation (in one), and autoimmune hepatitis (in one). CONCLUSIONS: Gene therapy, combined with reduced-intensity conditioning, is a safe and effective treatment for SCID in patients with ADA deficiency. (ClinicalTrials.gov numbers, NCT00598481 and NCT00599781.)


Asunto(s)
Adenosina Desaminasa/genética , Antígenos CD34/genética , Terapia Genética , Trasplante de Células Madre Hematopoyéticas , Inmunodeficiencia Combinada Grave/terapia , Adenosina Desaminasa/deficiencia , Células de la Médula Ósea/inmunología , Preescolar , Terapia Combinada , Estudios de Seguimiento , Vectores Genéticos , Humanos , Lactante , Recuento de Linfocitos , Retroviridae , Inmunodeficiencia Combinada Grave/inmunología , Transducción Genética , Acondicionamiento Pretrasplante
15.
J Pediatr Hematol Oncol ; 34(6): 407-11, 2012 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-22584781

RESUMEN

Normocytic-normochromic anemia (NC/NC) has been attributed to impaired bone marrow erythropoiesis in growth hormone (GH)-deficient patients. Moreover, the GH/insulin-like growth factor-1 (IGF-1) axis has been implicated in erythropoiesis regulation. In this retrospective multicenter study, we evaluated the incidence of NC/NC anemia in 279 children (196 boys), median age 10.52 years, with isolated idiopathic GH deficiency, and the effect of recombinant human growth hormone (rhGH) therapy on hemoglobin levels. At 6-month intervals, we recorded the Hb standard deviation score (Hb-SDS), the IGF-1-SDS, weight, height, and pubertal stage. Forty-one boys and 7 girls had NC/NC anemia before starting substitutive therapy (-2.59 SD). The Hb-SDS was significantly increased (P<0.05) after 12 months of rhGH therapy. The effect of rhGH continued up to 48 months (-0.39 SD), at which point all children had normal hemoglobin values. In conclusion, rhGH therapy resulted in normal hemoglobin values in all children enrolled in the study. These data support the concept that the GH/IGF-1 axis promotes erythropoiesis in vivo.


Asunto(s)
Anemia/terapia , Índices de Eritrocitos/efectos de los fármacos , Trastornos del Crecimiento/complicaciones , Hemoglobinas/metabolismo , Hormona de Crecimiento Humana/deficiencia , Hormona de Crecimiento Humana/uso terapéutico , Proteínas Recombinantes/uso terapéutico , Adolescente , Anemia/etiología , Biomarcadores/metabolismo , Niño , Preescolar , Eritropoyesis , Femenino , Humanos , Factor I del Crecimiento Similar a la Insulina/metabolismo , Masculino , Pronóstico , Estudios Retrospectivos
16.
Mar Pollut Bull ; 175: 113308, 2022 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-35051847

RESUMEN

A quantification of total mercury (Hgtot) and methylmercury (MeHg) concentrations in sediment and mussels was carried out in the east basin of the Orbetello lagoon in order to assess their bioaccumulation potential. The sediment was sampled in four macroareas, mussels were transplanted in the same sites and collected after seven weeks. The results show that Hgtot concentrations in sediments exceeded (0.21-16.9 mg/kg dry weight (dw)) the environmental quality standard of the Italian legislation (0.3 mg/kg dw). The Hgtot concentration in mussels (0.050-0.324 mg/kg wet weight (ww)) does not exceed the limit values (0.5 mg/kg ww) of the European food legislation. The biota-sediment accumulation factors (BSAFs) derived for MeHg (80-306.7) and a biomagnification factor (BMF) greater than 1 for Hgtot demonstrate that in the lagoon, these compounds can be transferred in the upper levels of the trophic chain and pose a risk to human health.


Asunto(s)
Mercurio , Compuestos de Metilmercurio , Contaminantes Químicos del Agua , Biota , Monitoreo del Ambiente/métodos , Cadena Alimentaria , Sedimentos Geológicos , Humanos , Mercurio/análisis , Contaminantes Químicos del Agua/análisis
17.
Chemosphere ; 308(Pt 3): 136244, 2022 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-36064006

RESUMEN

A number of biomonitoring investigations were carried out in Italy between 2000 and 2018 by the Unit of Human Exposure to Environmental Chemicals of the Italian National Institute of Health (Rome). The investigations were characterized by different features (case-control or cross-sectional studies, participants from impacted or no impacted areas, etc), but despite the differences, it was possible to study the time trends of Σ7(PCDDs), Σ10(PCDFs), Σ12(DL-PCBs), and Σ6(NDL-PCBs) (analytical and TEQ cumulative concentrations, as appropriate). All the chemicals considered showed clear rates of a time-dependent concentration decrease, data having previously been adjusted for the sampled Region and subject age. Σ7(PCDDs) exhibited the fastest decrease with an average rate of -4.44 pg/g-fat year-1 (2009-2018), whereas Σ6(NDL-PCBs) was characterized by the slowest decrease with a rate of -0.771 ng/g-fat year-1 (2000-2018). A clear distinction between the decreasing rates of Σ7(PCDDs) and Σ10(PCDFs) was observed, as the latter decreased at half the rate of the Σ7(PCDDs). The slower rate of the Σ10(PCDFs) decline may be due to an ongoing source of PCDFs in the environment beyond those traditionally considered for this group of contaminants such as the production of PCDFs due to PCBs thermal conversion from matrices contaminated with PCBs. Production of PCDFs due to thermal conversion of matrices contaminated with PCBs could be an ongoing source which may be of concern because recent data have highlighted the diffusion of PCBs in the European environment. The decreasing rates of PCDDs + PCDFs, DL-PCBs, and PCDDs + PCDFs + DL-PCBs - original analytical data converted to "dioxin equivalents" - were respectively estimated as (pgTEQ/g-fat year-1) -2.08, -2.06, and -2.10, values exhibiting good compatibility between one another.


Asunto(s)
Benzofuranos , Dioxinas , Bifenilos Policlorados , Dibenzodioxinas Policloradas , Benzofuranos/análisis , Monitoreo Biológico , Estudios Transversales , Dibenzofuranos Policlorados , Femenino , Humanos , Bifenilos Policlorados/análisis , Dibenzodioxinas Policloradas/análisis
18.
Health Info Libr J ; 28(4): 273-84, 2011 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-22051126

RESUMEN

BACKGROUND: Considerable barriers still prevent paediatricians from successfully using information retrieval technology. OBJECTIVES: To verify whether the assistance of biomedical librarians significantly improves the outcomes of searches performed by paediatricians in biomedical databases using real-life clinical scenarios. METHODS: In a controlled trial at a paediatric teaching hospital, nine residents and interns were randomly allocated to an assisted search group and nine to a non-assisted (control) group. Each participant searched PubMed and other online sources, performing pre-determined tasks including the formulation of a clinical question, retrieval and selection of bibliographic records. In the assisted group, participants were supported by a librarian with ≥5 years of experience. The primary outcome was the success of search sessions, scored against a specific assessment tool. RESULTS: The median score of the assisted group was 73.6 points interquartile range (IQR = 13.4) vs. 50.4 (IQR = 17.1) of the control group. The difference between median values in the results was 23.2 points (95% CI 4.8-33.2), in favour of the assisted group (P-value, Mann-Whitney U test: 0.013). CONCLUSIONS: The study has found quantitative evidence of a significant difference in search performance between paediatric residents or interns assisted by a librarian and those searching the literature alone.


Asunto(s)
Bases de Datos Bibliográficas , Internado y Residencia/métodos , Bibliotecología/métodos , Pediatría , Adulto , Competencia Clínica , Sistemas de Apoyo a Decisiones Clínicas/instrumentación , Práctica Clínica Basada en la Evidencia , Femenino , Investigación sobre Servicios de Salud , Hospitales de Enseñanza , Humanos , Almacenamiento y Recuperación de la Información/métodos , Bibliotecas Médicas , Masculino , Estadísticas no Paramétricas
19.
Int Med Case Rep J ; 14: 89-93, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-33628062

RESUMEN

Iron, which is an important micronutrient in the human body may be deficient in people with celiac disease (CD). Iron deficiency anemia (IDA) may be the presenting feature of celiac disease, also in the absence of diarrhea or weight loss. The treatment of IDA in patient with CD is primarily a gluten-free-diet (GFD), but it is also very important oral iron supplementation until the iron stores have been restored. However, a frequent problem in CD is the poor tolerability and poor efficacy of oral iron preparations. A new product, consisting of the combination of Ferrous Bysglicinate Chelate and Sodium Alginate (Feralgine™), has been demonstrated to be more bioavailable and well tolerated in CD. We present a case report that showed a clear efficacy of this product in a form of IDA refractory to conventional therapy in a woman with CD and we demonstrated a clear increase of serum iron after administration of this new type of ferrous.

20.
Nutrients ; 13(5)2021 May 17.
Artículo en Inglés | MEDLINE | ID: mdl-34067622

RESUMEN

The iron absorption process developsmainly in the proximal duodenum. This portion of the intestine is typically destroyed in celiac disease (CD), resulting in a reduction in absorption of iron and subsequent iron deficiency anemia (IDA). In fact, the most frequent extra-intestinal manifestation (EIM) of CD is IDA, with a prevalence between 12 and 82% (in relation with the various reports) in patients with new CD diagnosis. The primary treatment of CD is the gluten-free diet (GFD), which is associated with adequate management of IDA, if present. Iron replacement treatment historically has been based on oral products containing ferrous sulphate (FS). However, the absorption of FS is limited in patients with active CD and unpredictable in patients on a GFD. Furthermore, a poor tolerability of this kind of ferrous is particularly frequent in patients with CD or with other inflammatory bowel diseases. Normalization from anemic state typically occurs after at least 6 months of GFD, but the process can take up to 2 years for iron stores to replenish.


Asunto(s)
Anemia Ferropénica/dietoterapia , Enfermedad Celíaca/dietoterapia , Dieta Sin Gluten , Deficiencias de Hierro , Anemia Ferropénica/etiología , Enfermedad Celíaca/complicaciones , Enfermedad Celíaca/fisiopatología , Duodeno/fisiopatología , Humanos , Absorción Intestinal/fisiología , Hierro/metabolismo
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