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1.
Int J Food Sci Nutr ; 75(3): 317-324, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38291710

RESUMO

This study aimed to describe the dietary intake of ultra-processed foods (UPF) by children and adolescents with food allergy (FA) and to verify a possible association between the UPF intake with clinical characteristics and nutritional status in this group. This cross-sectional study included 110 children and adolescents with single or multiple FA IgE and non-IgE mediated. We evaluated food intake using the NOVA classification through the three 24-h recalls. The average contribution of UPF to total energy intake (calories) ranges from 21% in the first quartile to 43% in the last quartile (mean UPF intake 33.9 ± 14.9%). After binary logistic regression, an association was verified between dietary intake of UPF (>4th quartile) as a percentage of total energy intake and having multiple food allergies (OR 4.102; 95% CI - 1.331 to 12.643; p = .014). We concluded that children and adolescents with FA consumed a higher amount of UPF.


Assuntos
Ingestão de Energia , Fast Foods , Hipersensibilidade Alimentar , Humanos , Criança , Adolescente , Feminino , Masculino , Estudos Transversais , Fast Foods/efeitos adversos , Dieta , Manipulação de Alimentos , Estado Nutricional , Imunoglobulina E/sangue , Pré-Escolar , Alimento Processado
2.
Front Oncol ; 13: 1207695, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37416530

RESUMO

Background: Familial aggregation in childhood leukemia is associated with epidemiological and genomic factors. Albeit epidemiological studies on the familial history of hematological malignancies (FHHMs) are scarce, genome-wide studies have identified inherited gene variants associated with leukemia risk. We revisited a dataset of acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML) patients to explore the familial aggregation of malignancies among their relatives. Methods: A series of 5,878 childhood leukemia (≤21 years of age) from the EMiLI study (2000-2019) were assessed. Lack of well-documented familial history of cancer (FHC) and 670 cases associated with genetic phenotypic syndromes were excluded. Leukemia subtypes were established according to World Health Organization recommendations. Logistic regression-derived odds ratios (ORs) and 95% confidence intervals (CIs) were performed and adjusted by age as a continuous variable, where ALL was the reference group for AML and conversely. The pedigree of 18 families with excess hematological malignancy was constructed. Results: FHC was identified in 472 of 3,618 eligible cases (13%). Ninety-six of the 472 patients (20.3%) had an occurrence of FHHMs among relatives. Overall, FHC was significantly associated with AML (OR, 1.36; 95% CI, 1.01-1.82; p = 0.040). Regarding the first-degree relatives, the OR, 2.92 95% CI,1.57-5.42 and the adjOR, 1.16 (1.03-1.30; p0.001) were found for FHC and FHHM, respectively. Conclusion: Our findings confirmed that AML subtypes presented a significant association with hematological malignancies in first-degree relatives. Genomic studies are needed to identify germline mutations that significantly increase the risk of developing myeloid malignancies in Brazil.

3.
Front Cardiovasc Med ; 10: 1189320, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37351283

RESUMO

The emergence of the rare syndrome called vaccine-induced immune thrombocytopenia and thrombosis (VITT) after adenoviral vector vaccines, including ChAdOx1 nCov-19, raises concern about one's predisposing risk factors. Here we report the case of a 56-year-old white man who developed VITT leading to death within 9 days of symptom onset. He presented with superior sagittal sinus thrombosis, right frontal intraparenchymal hematoma, frontoparietal subarachnoid and massive ventricular hemorrhage, and right lower extremity arterial and venous thrombosis. His laboratory results showed elevated D-dimer, C-reactive protein, tissue factor, P-selectin (CD62p), and positive anti-platelet factor 4. The patient's plasma promoted higher CD62p expression in healthy donors' platelets than the controls. Genetic investigation on coagulation, thrombophilia, inflammation, and type I interferon-related genes was performed. From rare variants in European or African genomic databases, 68 single-nucleotide polymorphisms (SNPs) in one allele and 11 in two alleles from common SNPs were found in the patient genome. This report highlights the possible relationship between VITT and genetic variants. Additional investigations regarding the genetic predisposition of VITT are needed.

4.
Viruses ; 15(5)2023 05 08.
Artigo em Inglês | MEDLINE | ID: mdl-37243210

RESUMO

Parvovirus B19 (B19V) infection varies clinically depending on the host's immune status. Due to red blood cell precursors tropism, B19V can cause chronic anemia and transient aplastic crisis in patients with immunosuppression or chronic hemolysis. We report three rare cases of Brazilian adults living with human immunodeficiency virus (HIV) with B19V infection. All cases presented severe anemia and required red blood cell transfusions. The first patient had low CD4+ counts and was treated with intravenous immunoglobulin (IVIG). As he remained poorly adherent to antiretroviral therapy (ART), B19V detection persisted. The second patient had sudden pancytopenia despite being on ART with an undetectable HIV viral load. He had historically low CD4+ counts, fully responded to IVIG, and had undiagnosed hereditary spherocytosis. The third individual was recently diagnosed with HIV and tuberculosis (TB). One month after ART initiation, he was hospitalized with anemia aggravation and cholestatic hepatitis. An analysis of his serum revealed B19V DNA and anti-B19V IgG, corroborating bone marrow findings and a persistent B19V infection. The symptoms resolved and B19V became undetectable. In all cases, real time PCR was essential for diagnosing B19V. Our findings showed that adherence to ART was crucial to B19V clearance in HIV-patients and highlighted the importance of the early recognition of B19V disease in unexplained cytopenias.


Assuntos
Síndrome da Imunodeficiência Adquirida , Anemia , Eritema Infeccioso , Infecções por HIV , Infecções por Parvoviridae , Parvovirus B19 Humano , Masculino , Humanos , Adulto , HIV/genética , Imunoglobulinas Intravenosas , Infecções por Parvoviridae/complicações , Infecções por Parvoviridae/diagnóstico , Anemia/diagnóstico , Anemia/etiologia , Parvovirus B19 Humano/genética , Infecções por HIV/complicações , Infecções por HIV/tratamento farmacológico , DNA Viral/análise
5.
Endocr Regul ; 57(1): 92-98, 2023 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-37183689

RESUMO

Objective. The aim of this study was to verify the association between anxiety, depression, and obesity in metabolic syndrome (MetS) patients. Methods. It is a retrospective study with 142 volunteers with MetS of both genders and age ≥20 years. Every subject responded to the hospital anxiety and depression scale (HADS). Data are shown as absolute and relative frequencies for categorical variables and a Pearson's chi-square test was performed to verify the association between anxiety or depression and body mass index (BMI). The value of p≤0.05 was considered to be statistically significant. Results. The frequency of anxiety and depression was 18.3% (n=26) and 12% (n=17), respectively. There was no significant association between anxiety or depression and BMI (p=0.481 and 0.079, respectively) in individuals with MetS. Conclusions. Although no association among anxiety, depression and obesity was found, the psychological factors should be added to the MetS treatment contributing to a more effective health care in order to find answers to manage and adhere to the conducts carried out from a more humanized and transdisciplinary perspective. The data also indicate that large sample and case-control methodology are required to obtain a more specific evaluation of this association.


Assuntos
Ansiedade , Depressão , Síndrome Metabólica , Obesidade , Ansiedade/epidemiologia , Depressão/epidemiologia , Obesidade/epidemiologia , Síndrome Metabólica/epidemiologia , Síndrome Metabólica/psicologia , Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Idoso , Prevalência
6.
Environ Technol ; 44(5): 686-694, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-34524952

RESUMO

Due to the recent coronavirus-2019 pandemic, several studies have emerged looking for new materials, especially with biocidal characteristics. Thus, the present research investigates the antibacterial properties of biodegradable cellulose acetate (CA) / cetylpyridinium bromide (CPB) electrospun nanofibers, their aerosol filtration, and the possible use as a filter media of surgical face masks. Then, samples of these nanofibers were produced over a nonwoven substrate, using different volumes of polymeric solution during the electrospinning process. The evaluation of the antibacterial properties of the nanofibers was performed for Escherichia coli and Staphylococcus aureus using quantitative methods. The aerosol filtration performance was evaluated in these samples for NaCl nanoparticles (from 7-300 nm) and with 8 mL min-1 of air flow rate. The results show that the single use of the surfactant has antibacterial properties from a concentration of 39 µg mL-1 of solution. The nanofibers presented a reduction of 100% for both bacteria. Air filtration tests showed 126.03 and 207.73 Pa cm-² of pressure drops and 63 and 77% of aerosol filtration efficiency (FE) for samples with 0.13 and 0.15 mL, respectively. Regarding the nanofiber produced with 0.35 mL, the value obtained was 115.13 ± 33.64 Pa cm-2 and 3.15% of particle penetration. These breathability values are higher than those required for the surgical face mask standard, indicating that improvements in the porosity and thickness are necessary to meet the Brazilian requirements. However, the nanofibers could be applied as filter media for indoor air conditioning systems due to their FE and biocidal properties.


Assuntos
Filtros de Ar , Nanofibras , Nanofibras/química , Máscaras , Filtração/métodos , Antibacterianos , Aerossóis , Escherichia coli
7.
Hematol Transfus Cell Ther ; 45(2): 211-216, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-35307305

RESUMO

INTRODUCTION: Haploinsufficiency of the hematopoietic transcription factor GATA2 is associated with a broad spectrum of diseases, including infection susceptibility and neoplasms. We aimed to investigate GATA2 variants in patients with non-tuberculous mycobacterial (NTM) and/or fungal infections (FI) without known immunodeficiencies. METHOD: We performed GATA2 genotyping in patients with NTM and/or FI. RESULTS: Twenty-two patients were enrolled (seventeen FI, four NTM and one with both infections). The pathogenic variant NG_029334.1:g.16287C>T was found in one patient (4.5%) and two asymptomatic offsprings. We also found the likely-benign variant NG_029334.1:g.12080G>A (rs2335052), the benign variant NG_029334.1:g.16225C>T (rs11708606) and the variant of uncertain significance NG_029334.1:g.16201G>A (rs369850507) in 18.2%, 27.3%, and 4.5% of the cases, respectively. Malignant diseases were additionally diagnosed in six patients. CONCLUSION: Although detected in 45.4% of the patients, most GATA2 variants were benign or likely benign. Identifying a pathogenic variant was essential for driving both the patient's treatment and familial counseling. Pathogenic variants carriers should receive genetic counseling, subsequent infection prevention measures and malignancies surveillance. Additionally, case-control genotyping should be carried out in Brazil to investigate whether the observed variants may be associated with susceptibility to opportunistic infections and/or concurrent neoplasms.

8.
Res Pract Thromb Haemost ; 7(8): 102243, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-38193064

RESUMO

Background: The emergence of new variants of SARS-CoV-2 has led to the administration of different booster vaccines to mitigate COVID-19. Vaccines with adenoviral vectors have been rarely associated with vaccine-induced immune thrombotic thrombocytopenia (VITT). Objectives: This study aimed to describe 15 cases of VITT after the third and fourth doses of the COVID-19 vaccine in Brazil. Methods: Cases were reported after all kinds of anti-SARS-CoV-2 booster vaccinations between October 17, 2021, and September 4, 2022. Results: Of the 26 suspected cases, 15 cases of VITT were analyzed. Of these, 10 were classified as definite VITT, 2 as probable, 1 as possible, and 2 as unlikely. The estimated frequency of definite, probable, or possible VITT was 0.33 cases per million. Cases were assigned to ChAdOx1 (13 cases), Ad26.COV2.S (1 case), and BNT162b2 (1 case). None of the patients received an adenoviral vaccine as a primary vaccination. The average age of participants was 34 years, and symptoms usually appeared 8 days after vaccination. Headache was the most common symptom, and cerebral veins were the most affected thrombotic site. The overall mortality risk was 53%. Anti-platelet factor 4 enzyme-linked immunosorbent assay serology was positive in 11 out of 15 patients (73.3%), negative in 2 (13.3%), and missing in 2 (13.3%). Conclusion: The study confirms that VITT is linked to the first exposure to adenoviral vector vaccines. Since January 2023, Brazil has recommended preferably COVID-19 messenger RNA vaccines for individuals aged 18 to 39 years. We suggest that, in the current disease scenario, COVID-19 adenovirus vaccines should not be the first choice for individuals aged <50 years who have not received a previous dose of this type of vaccine.

9.
Hematol., Transfus. Cell Ther. (Impr.) ; 45(2): 211-216, Apr.-June 2023. tab, ilus
Artigo em Inglês | LILACS | ID: biblio-1448337

RESUMO

ABSTRACT Introduction Haploinsufficiency of the hematopoietic transcription factor GATA2 is associated with a broad spectrum of diseases, including infection susceptibility and neoplasms. We aimed to investigate GATA2 variants in patients with non-tuberculous mycobacterial (NTM) and/or fungal infections (FI) without known immunodeficiencies. Method We performed GATA2 genotyping in patients with NTM and/or FI. Results Twenty-two patients were enrolled (seventeen FI, four NTM and one with both infections). The pathogenic variant NG_029334.1:g.16287C>T was found in one patient (4.5%) and two asymptomatic offsprings. We also found the likely-benign variant NG_029334.1:g.12080G>A (rs2335052), the benign variant NG_029334.1:g.16225C>T (rs11708606) and the variant of uncertain significance NG_029334.1:g.16201G>A (rs369850507) in 18.2%, 27.3%, and 4.5% of the cases, respectively. Malignant diseases were additionally diagnosed in six patients. Conclusion Although detected in 45.4% of the patients, most GATA2 variants were benign or likely benign. Identifying a pathogenic variant was essential for driving both the patient's treatment and familial counseling. Pathogenic variants carriers should receive genetic counseling, subsequent infection prevention measures and malignancies surveillance. Additionally, case-control genotyping should be carried out in Brazil to investigate whether the observed variants may be associated with susceptibility to opportunistic infections and/or concurrent neoplasms.


Assuntos
Humanos , Adulto , Pessoa de Meia-Idade , Idoso , Adulto Jovem , Deficiência de GATA2 , Micobactérias não Tuberculosas , Fator de Transcrição GATA2 , Doenças da Imunodeficiência Primária
10.
Nutr Clin Pract ; 37(5): 1152-1161, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-36073835

RESUMO

BACKGROUND: Gastrointestinal and sensory manifestations (GSMs) of coronavirus disease 2019 (COVID-19) may affect food intake, resulting in malnutrition and poor outcomes. We characterized the impact of GSMs and oral nutrition supplementation on energy-protein intake (EPI) and hospital discharge in adult patients with COVID-19. METHODS: Patients from two hospitals were enrolled (n = 357). We recorded the presence and type of GSM at admission, estimated energy requirements (EER) and the EPI based on regular food intake (plate diagram sheets) during hospital stays. Patients not achieving 60% of their EER from food over 2 consecutive days received oral nutrition supplementation (ONS) with a high-energy-protein oral drink. RESULTS: Most patients (63.6%) presented with GSMs at admission. Anorexia was the most common manifestation (44%). Patients with anorexia or more than one GSMs were more likely to not achieve 60% EER on the first day of follow-up and to require the ONS intervention (P ≤ 0.050). Prevalence of at least one GSM was higher in patients who did not achieve hospital discharge than in patients who achieved it (74.2% vs 54.6%, P = 0.038). The patients requiring ONS (26.9%) demonstrated good adherence to the intervention (79.3%), achieved their EER during 95.7% of the supplementation time, and presented with hospital discharge rates similar to patients not requiring ONS (92.2% vs 91.9%, respectively; P = 1.000). CONCLUSIONS: GSM were prevalent in COVID-19 and it impaired EER attendance and patient recovery. ONS was well-tolerated, aided EER attendance, and potentially facilitated hospital discharge.


Assuntos
COVID-19 , Desnutrição , Terapia Nutricional , Adulto , Anorexia/epidemiologia , Anorexia/etiologia , Anorexia/terapia , COVID-19/terapia , Ingestão de Energia , Humanos
11.
Membranes (Basel) ; 12(9)2022 Sep 06.
Artigo em Inglês | MEDLINE | ID: mdl-36135880

RESUMO

The development of new materials with specific functionalities for certain applications has been increasing with the advent of nanotechnology. A technique widely used for this purpose is electrospinning, because control of several parameters involved in the process can yield nanoscale fibers. In addition to the production of innovative and small-scale materials, through structural, chemical, physical, and biological modifications in the fibers produced in electrospinning, it is possible to obtain specific properties for a given application. Thus, the produced fibers can serve different purposes, such as in the areas of sensors, catalysis, and environmental and medical fields. Given this context, this article presents a review of the electrospinning technique, addressing the parameters that influence the properties of the fibers formed and some techniques used to modify them as specific treatments that can be conducted during or after electrospinning. In situ addition of nanoparticles, changes in the configuration of the metallic collector, use of alternating current, electret fibers, core/shell method, coating, electrospray-coating, plasma, reinforcing composite materials, and thermal treatments are some of the examples addressed in this work. Therefore, this work contributes to a better comprehension of some of the techniques mentioned in the literature so far.

12.
Leuk Res Rep ; 18: 100339, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35958242

RESUMO

The use of antiretroviral therapy has drastically improved the life quality and prognosis of people living with the human immunodeficiency virus (HIV). The risk of acute myeloid leukemia (AML) currently does not appear to be significantly increased compared to the general population. Acute promyelocytic leukemia (APL), infrequent in people with HIV, is a distinct subtype of AML with unique molecular pathogenesis, clinical manifestations, and treatment. Herein we describe a fatal case of APL hypogranular variant in an HIV-positive patient presenting with hyperleukocytosis. Also, we conducted a literature review of the ten cases reported so far.

13.
Vaccine ; 40(33): 4788-4795, 2022 08 05.
Artigo em Inglês | MEDLINE | ID: mdl-35779962

RESUMO

OBJECTIVE: Describe a case series of vaccine-induced immune thrombotic thrombocytopenia (VITT) after COVID-19 vaccination in Brazil that included ChAdOx1 nCoV-19, Ad26.COV2.S and BNT162b2 vaccines, describing their clinical and laboratory characteristics. METHODOLOGY: Descriptive case series study using Bio-Manguinhos/Fiocruz/AstraZeneca Brazil and National Immunization Program/Ministry of Health (NIP/MoH) data on COVID-19 AEFI surveillance. We obtained patient-level data from pharmacovigilance for AEFI surveillance and used both the NIP/MoH and Bio-Manguinhos/Fiocruz pharmacovigilance databases to create the study database. Thirty-nine cases of suspect VITT were included, 36 after ChAdOx1 nCoV-19, one after BNT162b2 and two after Ad26.COV2.S vaccine. All cases were based on meeting the Brighton Collaboration criteria for VITT. The primary outcomes were clinical and laboratory features, site of thrombosis, and anti-PF4 ELISA, when available. RESULTS: Thirty-nine cases met the criteria, 38 of which were classified as level 1 and one as level 3 according to Brighton Collaboration. Most cases had the central nervous system (CNS) as the main site of thrombosis (21/39) and happened after the vaccine first dose (34/39). The median age of the cases was 41 years old (23 to 86 yo). Most of the cases (61.5%) occurred in women. The median interval between vaccination and onset of symptoms was 8 days (0-37 days). The platelet count and D-dimer count had median values of 34,000/µL and 19,235 µg FEU/L, respectively. The ELISA anti-PF4 antibody was positive in 18 samples. The overall mortality rate was 51% and was higher in cases of CNS thrombosis with intracerebral bleeding. CONCLUSION: Our case series shows that Brazilian VITT cases have similar clinical and laboratory profiles as demonstrated in the literature. Brazil has administered more than 300 million doses of COVID-19 vaccines (more than 110 million from ChAdOx1 nCoV-19). VITT seems to be a very rare but serious adverse event following COVID-19 immunization, especially adenoviral vector immunization.


Assuntos
Vacinas contra COVID-19 , COVID-19 , Trombocitopenia , Trombose , Ad26COVS1 , Adulto , Vacina BNT162 , Brasil/epidemiologia , COVID-19/prevenção & controle , Vacinas contra COVID-19/efeitos adversos , ChAdOx1 nCoV-19 , Feminino , Humanos , Trombocitopenia/induzido quimicamente , Trombocitopenia/epidemiologia , Trombose/induzido quimicamente , Trombose/epidemiologia , Vacinação/efeitos adversos , Vacinas/efeitos adversos
14.
Front Public Health ; 10: 907652, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35692333

RESUMO

Reports of side effects of vaccines against severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) are increasing worldwide. Capillary leak syndrome and vaccine-induced immune thrombotic thrombocytopenia are very rare but life-threatening adverse events that should be identified early and treated. However, isolated thrombocytopenia can indicate pseudothrombocytopenia. In certain people, ethylenediaminetetraacetic acid (EDTA) induces an in vitro platelet aggregation, resulting in misleading underestimation of platelet counts. It is essential to recognize pseudothrombocytopenia to prevent diagnostic errors, overtreatment, anxiety, and unnecessary invasive procedures. We present a case who developed generalized edema and persistent pseudothrombocytopenia after the first dose of the ChAdOx1 nCoV-19 vaccine (AstraZeneca).


Assuntos
COVID-19 , Trombocitopenia , COVID-19/prevenção & controle , Vacinas contra COVID-19/efeitos adversos , ChAdOx1 nCoV-19 , Edema , Humanos , SARS-CoV-2 , Trombocitopenia/induzido quimicamente , Trombocitopenia/diagnóstico , Vacinação/efeitos adversos
15.
Artigo em Inglês | MEDLINE | ID: mdl-37560496

RESUMO

Background: The present study assessed the quality of images and the presence of marginal gaps on cone-beam computed tomography (CBCT) images of teeth restored with all-ceramic and metal-ceramic crowns and compared the gap sizes observed on CBCT images with those obtained on micro-CT images. Methods: Thirty teeth restored with metal-ceramic and all-ceramic crowns, properly adapted and with gaps of 0.30 and 0.50 mm, were submitted to micro-CT and CBCT scans. Linear measurements corresponding to the marginal gap (MG) and the absolute marginal discrepancy (AMD) were obtained. The objective assessment of the quality of CBCT images was performed using the contrast-to-noise ratio (CNR), and the subjective assessment was defined by the diagnoses made by five examiners regarding the presence or absence of gaps. Results: The measurements were always higher for CBCT, with a significant difference regarding AMD. No significant difference in image quality was observed using CNR between the crowns tested. Low accuracy and sensitivity values could be observed for both crowns. Conclusion: Marginal mismatch measures were overestimated in CBCT images. No difference in image quality was observed between the crowns. The correct diagnosis of gaps was considered low, irrespective of crown type and gap size.

16.
Environ Sci Pollut Res Int ; 29(4): 5840-5851, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34431047

RESUMO

The chemical composition of particulate material plays an important role in the atmosphere, providing cloud and ice nuclei for storm development. This study aims to evaluate and infer the sources of ions, metals, and metalloids in the fine atmospheric particulate matter (PM2.5) from triple border Paraná, Santa Catarina (Brazil), and northeastern Argentina, which is among those with the highest hail incidence in the world. Among the ions, the concentrations presented the following sequence in decreasing order: [Formula: see text]> K+> [Formula: see text]> [Formula: see text]> Ca2+> Cl-> Na+> Mg2+. Regarding the metals and metalloid concentrations, the order was of S > Si > Al > Fe > P > Ti, Cr, Cu, and Zn > Br > Mn, and Ni. The main sources, supported by positive matrix factorization results, are soil and agricultural activities, as well as vehicular emissions due to the agricultural machinery and the displacement of residents. Besides, the influence of aerosols from biomass burning and industrial activities was observed, possibly come from long-distance transport. The composition of PM2.5 presents one or more elements considered present ice nuclei (IN) activity, such as Al, Mn, Cu, Co, Ni, and V (in form of oxides), corroborating with other studies, also, with high hail incidence. However, further studies are needed to verify the role of aerosol characteristics in the formation of IN and, consequently, hail.


Assuntos
Poluentes Atmosféricos , Aerossóis/análise , Poluentes Atmosféricos/análise , Brasil , Monitoramento Ambiental , Material Particulado/análise , Emissões de Veículos/análise
18.
Endocr Regul ; 55(4): 238-241, 2021 Dec 07.
Artigo em Inglês | MEDLINE | ID: mdl-34879185

RESUMO

Objectives. We aim to report the clinical repercussions of a nutritional approach in a patient diagnosed with Niemann Pick disease type C (NPC) using miglustat as pharmacological therapy. Case report. A 33-year-old woman diagnosed with NPC using miglustat was instructed to look for a dietary management at our nutrition service. Patient's symptoms were weight loss and important gastrointestinal alterations. Our nutritional prescription was a high-calorie and high-protein, lactose- and sucrose-free diet, as well as a daily supplementation of L-glutamine, probiotics, omega 3, and coenzyme Q10. After two months, the patient had weight gain and improvement in the intestinal health. Conclusions. We found that nutritional prescription aided in the treatment of NPC and revealed that nutritional care represents an important strategy in the management of rare genetic diseases.


Assuntos
Doença de Niemann-Pick Tipo C , Adulto , Feminino , Humanos , Doença de Niemann-Pick Tipo C/tratamento farmacológico
20.
Front Pediatr ; 9: 639479, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33968846

RESUMO

Childhood leukemias are heterogeneous diseases with widely differing incident rates worldwide. As circulating tumors, childhood acute leukemias are uniquely accessible, and their natural history has been described in greater detail than for solid tumors. For several decades, it has been apparent that most cases of childhood acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML) initiate in utero. Circumstantial evidence in support of this contention includes the young age of onset and high rate of concordance among identical twins. "Backtracking" of leukemic somatic mutations, particularly gene translocations, to cord blood and dried blood spots collected during the perinatal period has provided molecular proof of prenatal leukemogenesis. Detection of a patient's leukemia translocation in easily accessible birth samples, such as dried blood spots, is straightforward with the knowledge of their idiosyncratic breakpoints. However, to translate these findings into population-based screening and leukemia prevention requires novel methods able to detect translocations at all possible breakpoints when present in a low frequency of cells. Several studies have attempted to screen for leukemic translocations, mainly the common ETV6-RUNX1 translocation, in cord blood samples from healthy children. Most studies have reported finding translocations in healthy children, but estimates of prevalence have varied widely and greatly exceed the incidence of leukemia, leading to concerns that technical artifact or contamination produced an artificially inflated estimate of translocation prevalence at birth. New generation techniques that capture the presence of these translocations at birth have the potential to vastly increase our understanding of the epidemiology of acute leukemias. For instance, if leukemic translocations are present at birth in a far higher proportion of children than eventually develop acute leukemia, what are the exposures and somatic molecular events that lead to disease? And could children with translocations present at birth be targeted for prevention of disease? These questions must be answered before large-scale newborn screening for leukemia can occur as a public health initiative. Here, we review the literature regarding backtracking of acute leukemias and the prevalence of leukemic translocations at birth. We further suggest an agenda for epidemiologic research using new tools for population screening of leukemic translocations.

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