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1.
J Diabetes Sci Technol ; : 19322968241236456, 2024 Mar 19.
Artigo em Inglês | MEDLINE | ID: mdl-38501504

RESUMO

INTRODUCTION: Hybrid closed-loop systems (HCLS) use has shown that time in range (TIR) tends to improve more during the nighttime than during the day. This study aims to compare the conventional TIR, currently accepted as 70 to 180 mg/dL, with a proposed recalculated time in range (RTIR) considering a tighter glucose target of 70 to 140 mg/dL for the nighttime fasting period in T1DM patients under HCLS. METHODS: We conducted a retrospective study that included adults patients receiving treatment with Tandem t:slim X2 Control-IQ. Daytime TIR was characterized as glucose values between 70 and 180 mg/dL during the 07:01 to 23:59 time frame. Nighttime fasting TIR was specified as glucose values from 70 to 140 mg/dL between 00:00 and 07:00. The combination of the daytime and nighttime fasting glucose targets results in an RTIR, which was compared with the conventional TIR for each patient. The 14 days Dexcom G6 CGM data were downloaded from Tidepool platform and analyzed. RESULTS: We included 22 patients with a mean age of 49.7 years and diabetes duration of 24.7 years, who had been using automatic insulin delivery (AID) HCLS for a median of 305.3 days. We verified a mean conventional TIR of 68.7% vs a mean RTIR of 60.3%, with a mean percentage difference between these two metrics of -8.4%. A significant decrease in conventional TIR was verified when tighter glucose targets were considered during the nighttime period. No significant correlation was found between the percentage difference values and RTIR, even among the group of patients with the lowest conventional TIR. CONCLUSIONS: Currently, meeting the conventional TIR metrics may fall short of achieving an ideal level of glycemic control. An individualized strategy should be adopted until further data become available for a precise definition of optimal glucose targets.

2.
Endocr Regul ; 57(1): 144-151, 2023 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-37561831

RESUMO

Objective. Adjuvant therapy with sodium-glucose cotransport 2 inhibitors (SGLT2i) in type 1 diabetes (T1D) is associated with an improvement in glycemic control, but increases the risk of diabetic ketoacidosis (DKA). However, real-life studies in individuals with T1D under continuous subcutaneous insulin infusion (CSII) are still scarce. We present the first real-life study performed in patients with T1D exclusively treated with CSII. The aim of the present study was to assess the metabolic impact and safety of SGLT2i in T1D individuals under CSII. Methods. Retrospective study includes 34 T1D adult individuals under CSII, who started SGLT2i until 30th June 2021. Data regarding the glycemic control and acute diabetes complications at the moment of introduction of SGLT2i and after 3, 6, and 12 months of use were collected. Results. Twenty-three individuals were included. Comparing with the moment of SGLT2i introduction after 3, 6, and 12 months of use, there was a statistically significant increase of time in range (TIR) (∆T3M=12.8%; ∆T6M=11.5%; ∆T12M=11.1%), and a decrease in time above range (∆T3M=13.6%; ∆T6M=11.9%; ∆T12M=10.5%). There were no significant differences in time below the range. Mean glucose and mean glucose management indicator significantly reduced in the 3 evaluated moments. A significant reduction in median weight was also observed (∆T6M=2 kg; ∆T12M=4.5 kg). Two patients (8.7%) developed mild euglycemic DKA during SGLT2i treatment, both were women and had body mass index (BMI) <27 kg/m2. One of them had a total daily insulin dose (TDDI) reduction of 26.9% after 3 months of use. Conclusions. The use of SGLT2i, as an adjuvant treatment in T1D individuals under CSII, was associated with a significant increase of TIR without increasing time in hypoglycemia. It also had a weight benefit. Careful use in selected participants is necessary to reduce the occurrence of DKA.


Assuntos
Diabetes Mellitus Tipo 1 , Cetoacidose Diabética , Inibidores do Transportador 2 de Sódio-Glicose , Adulto , Humanos , Feminino , Masculino , Diabetes Mellitus Tipo 1/tratamento farmacológico , Diabetes Mellitus Tipo 1/complicações , Inibidores do Transportador 2 de Sódio-Glicose/efeitos adversos , Estudos Retrospectivos , Insulina , Cetoacidose Diabética/induzido quimicamente , Cetoacidose Diabética/complicações , Cetoacidose Diabética/tratamento farmacológico , Glucose
3.
Cureus ; 15(1): e34278, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36855493

RESUMO

Introduction Capillary blood glucose (CBG) monitoring remains the most used testing form in hospitals and allows for "points in range (PIR)" metric calculation. This study was conceived to evaluate the metabolic control in patients with diabetes mellitus (DM) at a hospital through PIR metrics. Methods This was an observational cross-sectional study conducted on October 9, 2020, that included non-critical adults admitted to Centro Hospitalar Universitário do Porto (except pregnant/postpartum women) with DM under CBG monitoring and a minimum of 24 hours of hospitalization. Glycemic control was evaluated by previous day CBG monitoring. Results The study sample consisted of 110 patients with DM (93.6% type 2) with a median number of CBG tests of 4.00 (1.00) and a median CBG of 166.20 (69.41) mg/dL, SD 41.93 ± 27.20 mg/dL, and variation coefficient of 22.56 ± 12.51%. Points below range were 0.5%, with 0% below 54 mg/dL. The points in ranges 70-140 mg/dL and 140-180 mg/dL were 32.8% and 22.0%, respectively, and the total number of patients with all points in range 70-180 mg/dL was 19 (17.3%), with only 3 (2.7%) having all points in range 140-180 mg/dL and 10 (9.1%) in range 70-140 mg/dL. Regarding points above range (PAR), 29.9% and 14.8% points were at levels 1 and 2 hyperglycemia, respectively, and 15 (13.6%) patients had all points above 180 mg/dL. Correlations were identified between PAR and the total number of CBG assessments (ρ = 0.689, p < 0.001). Conclusion We conclude that in-hospital glycemic control remains suboptimal: only few have adequate control according to the PIR metrics despite low glycemic variability. PIR metrics are a new, valuable, simple and valid way to take better advantage of CBG monitoring at no added cost.

4.
Acta Diabetol ; 60(1): 83-91, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36208343

RESUMO

AIMS: Monogenic forms of diabetes that develop with autosomal dominant inheritance are classically aggregated in the Maturity-Onset Diabetes of the Young (MODY) categories. Despite increasing awareness, its true prevalence remains largely underestimated. We describe a Portuguese cohort of individuals with suspected monogenic diabetes who were genetically evaluated for MODY-causing genes. METHODS: This single-center retrospective cohort study enrolled patients with positive genetic testing for MODY between 2015 and 2021. Automatic sequencing and, in case of initial negative results, next-generation sequencing were performed. Their clinical and molecular characteristics were described. RESULTS: Eighty individuals were included, 55 with likely pathogenic/pathogenic variants in one of the MODY genes and 25 MODY-positive family members, identified by cascade genetic testing. The median age at diabetes diagnosis was 23 years, with a median HbA1c of 6.5%. The most frequently mutated genes were identified in HNF1A (40%), GCK (34%) and HNF4A (13%), followed by PDX1, HNF1B, INS, KCNJ11 and APPL1. Thirty-six unique variants were found (29 missense and 7 frameshift variants), of which ten (28%) were novel. CONCLUSIONS: Our data highlights the importance of genetic testing in the diagnosis of MODY and the establishment of its subtypes, leading to more personalized treatment and follow-up strategies.


Assuntos
Diabetes Mellitus Tipo 2 , Humanos , Adulto Jovem , Adulto , Mutação , Portugal/epidemiologia , Estudos Retrospectivos , Diabetes Mellitus Tipo 2/epidemiologia , Diabetes Mellitus Tipo 2/genética , Diabetes Mellitus Tipo 2/diagnóstico , Testes Genéticos
5.
Medicine (Baltimore) ; 101(39): e30825, 2022 Sep 30.
Artigo em Inglês | MEDLINE | ID: mdl-36181020

RESUMO

The increase in life expectancy along with technological advances has translated into a higher number of pituitary adenomas (PA) diagnosed from the age of 65. In the elderly, symptoms related to comorbidities might overlap with endocrine dysfunction, in addition to increasing anesthetic and surgical risks. This study aimed to compare baseline clinical and tumor features between patients with PA from different age groups: younger adults (YA), 18 to 64 years, and older adults (OA), ≥65 years. As secondary outcomes, we also intended to assess: clinical characteristics and tumor features in patients undergoing surgical intervention and surgical data and complications in patients undergoing transphenoidal surgery (TSS). This retrospective cohort study included patients diagnosed with PA in adulthood divided into YA and OA groups. The secondary outcomes were evaluated in the subgroups: patients who underwent pituitary surgery and patients specifically submitted to TSS, who had completed postoperative follow-up ≥ 6 months until July/2020. A total of 401 patients were included, 327 (81.5%) in the YA and 74 (18.5%) in the OA group. Hormone-secreting effects were more common in the YA group (P < .001) and mass effects in the OA group (P = .070). The prevalence of hypertension and diabetes was higher in the OA group (P = .002, P = .011). A larger proportion of nonfunctioning (NF) PA and prolactinomas was found in OA (P < .001) and YA (P = .012), respectively. Macroadenomas were more common in the OA group (P < .001). No differences were found in terms of invasiveness. In the secondary outcome analysis, there was a higher prevalence of NF-PA in those who underwent pituitary surgery. The rate of TSS-related complications was similar between the groups for major, minor and endocrine/electrolyte complications. OA-PA clinically differ from the younger: tend to present more frequently with chronic comorbidities and less frequently with hormone-secreting effects, are more often NF and larger in size without a significant increase in invasiveness. The TSS results were reassuring, proving to be equally safe for the elderly.


Assuntos
Adenoma , Neoplasias Hipofisárias , Prolactinoma , Adenoma/epidemiologia , Adenoma/patologia , Adenoma/cirurgia , Adulto , Idoso , Hormônios , Humanos , Neoplasias Hipofisárias/epidemiologia , Neoplasias Hipofisárias/patologia , Neoplasias Hipofisárias/cirurgia , Estudos Retrospectivos , Resultado do Tratamento
6.
Cureus ; 14(8): e28422, 2022 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-36176818

RESUMO

Introduction Faster insulin aspart (fASP) is the new formulation of insulin aspart (ASP) with a left-shifted pharmacokinetic profile, allowing better control of early postprandial hyperglycemia and a reduction in the risk of late post-meal hypoglycemia. However, it can be associated with more frequent infusion set changes. The purpose of this study is to evaluate efficacy and safety one, three, and six months after starting fASP in continuous subcutaneous insulin infusion (CSII) systems. Methods This is a retrospective study that included adults with type 1 diabetes mellitus, users of CSII ≥3 months, who started fASP. Exclusion criteria included less than one month of follow-up after the intervention, concomitant initiation of pharmacological therapy, pre-conception period, and non-use of continuous glucose monitoring. Results A total of 77 individuals were included, of which 52 (67.5%) were female, aged 39.87 ± 13.10 years, with a mean time under CSII of 7.30 ± 3.58 years and a median follow-up time after transition to fASP of six months. There was a trend to a global glycemic control improvement at six months after starting fASP: numeric increase in time in range (56.40 ± 12.62% vs 60.15 ± 13.53%, p=0.148), reduction in time above range (37.76 ± 13.05% vs 34.67 ± 14.94%, p=0.557), time below range (6.00 (5.00)% vs 4.50 (5.25)%, p=0.122), and mean glucose (174.29 ± 25.14 mg/dL vs 167.00 ± 25.30 mg/dL, p=0.207). There was a reduction in body mass index (BMI) at six months after switching to fASP (25.08 (4.59) kg/m2 vs 24.45 (3.05) kg/m2, p=0.010), despite the absence of a significant variation in total daily insulin. Adverse event and discontinuation rates were 7.8% and 6.5%, respectively, with no documented episodes of diabetic ketoacidosis or severe hypoglycemia. Conclusions fASP proved to be a safe and effective therapeutic option in CSII systems associated with a significant BMI reduction, aspects that might justify its preference.

7.
Endocrinol Diabetes Metab ; 5(5): e00332, 2022 09.
Artigo em Inglês | MEDLINE | ID: mdl-35822264

RESUMO

INTRODUCTION: MODY probability calculator (MPC) represents an easy-to-use tool developed by Exeter University to help clinicians prioritize which individuals should be oriented to genetic testing. We aimed to assess the utility of MPC in a Portuguese cohort with early-onset monogenic diabetes. METHODS: This single-centre retrospective study enrolled 132 participants submitted to genetic testing between 2015 and 2020. Automatic sequencing and, in case of initial negative results, generation sequencing were performed. MODY probability was calculated using the probability calculator available online. Positive and negative predictive values (PPV and NPV, respectively), accuracy, sensitivity and specificity of the calculator were determined for this cohort. RESULTS: Seventy-three individuals were included according to inclusion criteria: 20 glucokinase (GCK-MODY); 16 hepatocyte nuclear factor 1A (HNF1A-MODY); 2 hepatocyte nuclear factor 4A (HNF4A-MODY) and 35 DM individuals with no monogenic mutations found. The median probability score of MODY was significantly higher in monogenic diabetes-positive subgroup (75.5% vs. 24.2%, p < .001). The discriminative accuracy of the calculator, as expressed by area under the curve, was 75% (95% CI: 64%-85%). In our cohort, the best cut-off value for the MODY calculator was found to be 36%, with a PPV of 74.4%, NPV of 73.5% and corresponding sensitivity and specificity of 76.2% and 71.4%, respectively. CONCLUSIONS: In a highly pre-selected group of probands qualified for genetic testing, the Exeter MODY probability calculator provided a useful tool in individuals' selection for genetic testing, with good discrimination ability under an optimal probability cut-off of 36%. Further geographical and population adjustments are warranted for general use.


Assuntos
Diabetes Mellitus Tipo 2 , Diabetes Mellitus Tipo 2/diagnóstico , Diabetes Mellitus Tipo 2/epidemiologia , Diabetes Mellitus Tipo 2/genética , Glucoquinase/genética , Humanos , Probabilidade , Estudos Retrospectivos
8.
Diabetes Metab Syndr ; 16(6): 102509, 2022 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-35598543

RESUMO

BACKGROUND AND AIM: We sought to prospectively assess the impact of intermittently scanned continuous glucose monitoring (isCGM) initiation in the glycaemic control and quality of life (QoL) in type 1 diabetes mellitus (T1DM) patients followed in real-live conditions. METHODS: Prospective, observational, cohort, single-centre and single-arm study conducted between September 2018 and March 2020, enrolling adults with T1DM with at least one year of diagnosis, interested in using isCGM. After training at isCGM initiation, CGM metrics and QoL were assessed at baseline and 12 months. RESULTS: Thirty-six individuals (55.6% male) were included; median age at inclusion was 49.0 (43.5-62.5)years and the mean(±SD) duration of T1DM was 25.5 ± 12.0 years. Median (interquartile range) HbA1c decreased from 7.6(7.0-8.7)% to 7.4(6.8-7.7)% at 12 months (p = 0.02), driven by the subgroup of individuals with baseline HbA1c ≥ 7.5%. The number of scans per day increased from 7.0(5.5-10.0) to 10.0(7.0-14.0) but no correlation was found between the number of daily scans and CGM metrics. Total daily insulin dose remained unchanged, however the proportion of basal insulin decreased, and the proportion of bolus insulin increased over time. Multiple QoL subscales scores improved significantly, including disease-burden subscale for which TIR proved to be a significant predictive factor. CONCLUSION: isCGM improved both glycaemic control, namely time in range, time below range and glycaemic variability, as well as QoL scores in the long term. The increase of the bolus insulin proportion suggests a behavioural change. However, the appraisal of our results must consider our substantial rate of drop-out limiting the external validity of our findings.


Assuntos
Diabetes Mellitus Tipo 1 , Adulto , Glicemia , Automonitorização da Glicemia/métodos , Diabetes Mellitus Tipo 1/tratamento farmacológico , Feminino , Seguimentos , Hemoglobinas Glicadas , Controle Glicêmico , Humanos , Hipoglicemiantes/uso terapêutico , Insulina/uso terapêutico , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Qualidade de Vida
9.
Endocr Regul ; 56(2): 87-94, 2022 Apr 30.
Artigo em Inglês | MEDLINE | ID: mdl-35489048

RESUMO

Objective. Micromegaly describes a subgroup of patients with clinically evident acromegaly and elevated insulin-like growth factor I (IGF-I) with apparently normal basal growth hormone (bGH) and often a glucose-suppressed growth hormone (GH) of <1 ng/mL at diagnosis. It is controversial whether this condition is a distinct clinical entity or a classic acromegaly in early stages. The aim of the present article was to characterize the prevalence, clinical and biochemical characteristics, and therapeutic outcomes of micromegaly. Methods. A retrospective study of patients with an acromegaly followed ≥1 year at a tertiary center from 1995 to 2019. Patients without IGF-I or GH measurements at diagnosis were excluded. At diagnosis, bGH was considered normal if <2 ng/mL. Results. From 74 patients with acromegaly, 6 (8.1%) had normal bGH levels. There was no difference in the gender distribution, median diagnostic delay, and follow-up time between patients with normal bGH and elevated bGH. Patients with normal bGH were significantly older at time of the first acromegalic manifestation and diagnosis they had significantly lower nadir post-glucose GH and IGF-I levels, and tended to have a higher prevalence of obesity than patients with the elevated bGH. The frequency of acromegalic symptoms, signs, and other comorbidities than obesity was similar between groups. Five patients (83.3%) with normal bGH presented microadenomas. Post-operative remission and outcomes at last visit were comparable between patients with or without normal bGH. Conclusions. Normal bGH acromegaly is relatively uncommon in our patients. These patients showed differentiating characteristics from the classical acromegaly with elevated bGH. Further studies are needed to extend the knowledge about its clinical behavior, therapeutic outcomes, morbidity, and mortality.


Assuntos
Acromegalia , Hormônio do Crescimento Humano , Acromegalia/diagnóstico , Acromegalia/epidemiologia , Acromegalia/terapia , Diagnóstico Tardio , Glucose , Hormônio do Crescimento , Humanos , Fator de Crescimento Insulin-Like I/metabolismo , Obesidade , Estudos Retrospectivos , Resultado do Tratamento
10.
Sci Adv ; 8(12): eabm1140, 2022 03 25.
Artigo em Inglês | MEDLINE | ID: mdl-35333565

RESUMO

Exosomes are extracellular vesicles of endosomal origin that are released by practically all cell types across metazoans. Exosomes are active vehicles of intercellular communication and can transfer lipids, RNAs, and proteins between different cells, tissues, or organs. Here, we describe a mechanism whereby proteins containing a KFERQ motif pentapeptide are loaded into a subpopulation of exosomes in a process that is dependent on the membrane protein LAMP2A. Moreover, we demonstrate that this mechanism is independent of the ESCRT machinery but dependent on HSC70, CD63, Alix, Syntenin-1, Rab31, and ceramides. We show that the master regulator of hypoxia HIF1A is loaded into exosomes by this mechanism to transport hypoxia signaling to normoxic cells. In addition, by tagging fluorescent proteins with KFERQ-like sequences, we were able to follow the interorgan transfer of exosomes. Our findings open new avenues for exosome engineering by allowing the loading of bioactive proteins by tagging them with KFERQ-like motifs.


Assuntos
Exossomos , Vesículas Extracelulares , Proteína 2 de Membrana Associada ao Lisossomo , Comunicação Celular , Complexos Endossomais de Distribuição Requeridos para Transporte/metabolismo , Exossomos/metabolismo , Vesículas Extracelulares/metabolismo , Proteína 2 de Membrana Associada ao Lisossomo/metabolismo , Transdução de Sinais
11.
Saúde debate ; 46(spe2): 190-209, 2022. tab, graf
Artigo em Português | LILACS-Express | LILACS | ID: biblio-1390401

RESUMO

RESUMO Alimentação adequada durante os primeiros anos de vida é fundamental para a saúde e tem repercussões em todos os ciclos da vida do indivíduo. Diversos trabalhos científicos associam efeitos nocivos à saúde com exposição aos agrotóxicos. Foram avaliados 312 agrotóxicos em alimentos comumente presentes na dieta infantil, selecionados a partir do cardápio do programa de alimentação escolar da educação infantil do município do Rio de Janeiro. A seleção dos alimentos baseou-se na frequência de consumo conforme os cardápios semanais da rede municipal de ensino. A análise multirresíduos por Cromatografia Líquida de Ultra Eficiência acoplada à Espectrometria de Massas sequencial em 145 amostras (leite, cereais infantis, banana, maçã, mamão, laranja, feijão e arroz) identificou 426 detecções de 53 agrotóxicos diferentes. Mais de 68% das amostras apresentaram múltiplos resíduos de agrotóxicos. Com os resultados, foi estimada a exposição da população infantil aos resíduos encontrados, indicando potencial risco à saúde das crianças, que precisa ser uma preocupação prioritária da saúde pública. É necessário verificar os impactos toxicológicos do uso de agrotóxicos sobre a saúde infantil, ampliar a aquisição de alimentos orgânicos pelo Programa Nacional de Alimentação Escolar e fortalecer a agroecologia com incentivos e políticas pública, buscando proteção e promoção da saúde coletiva.


ABSTRACT Adequate nutrition in the first years of life is a fundamental requirement for health and affects all life cycles of the individual. Several scientific studies associate exposure to pesticides with adverse effects to health. A total of 312 pesticides residues were evaluated in common foods from children's diets, selected from the infancy school feeding program menu in the city of Rio de Janeiro. The selection of food was based on the frequency of consumption according to the weekly menus of the municipal school system. Multiresidue pesticide analysis by Ultra Performance Liquid Chromatography coupled to tandem Mass Spectrometry in 145 samples (milk, infant cereal, banana, apple, papaya, orange, beans and rice) identified 426 detections of 53 different pesticides. More than 68% of the samples had multiple pesticide residues. Based on the results, was estimated the exposure of children to residues that were detected, indicating a potential risk to children's health, which needs to be a priority public health concern. It is necessary to verify the toxicological impacts of the use of pesticides on children's health, to expand the acquisition of organic foods by the School Feeding National Program, and to strengthen agroecology with incentives and public policies, aiming at the protection and promotion of collective health.

12.
Case Rep Endocrinol ; 2021: 5523929, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34513097

RESUMO

Nephrotic syndrome may trigger the onset of hypothyroidism, promoting massive urinary protein losses including thyroxine (T4) and triiodothyronine (T3) along with their binding proteins. At an early stage, a clinical and biochemical euthyroid state is expected. However, in patients with prolonged and severe proteinuria, especially with concomitant low thyroid reserve, urinary losses of free and protein-bound thyroid hormones are sufficiently pronounced to induce a subclinical or overt hypothyroidism. Despite its high prevalence in clinical practice, the literature lacks case reports of newly diagnosed clinical hypothyroidism due to NS in adults, making this condition under-recognized. We report a case of a 23-year-old man with previous normal thyroid function who developed overt hypothyroidism due to a severe nephrotic syndrome, requiring supplementation with levothyroxine (LT). After the patient had undergone bilateral nephrectomy, treatment with LT was discontinued and thyroid function normalized.

13.
Foods ; 10(4)2021 Apr 19.
Artigo em Inglês | MEDLINE | ID: mdl-33921869

RESUMO

Brazil is the world's third largest common bean (Phaseolus vulgaris L.) producer, and 60% of its population consumes this legume. Although organic farming is a sustainable alternative to nonorganic agriculture, its effect on chemical composition is still controversial. Therefore, the aim of this study was to investigate differences in the nutritional and phenolic compounds profiles between organically and nonorganically produced Brazilian black beans. Samples were obtained from the same harvest periods and from near geographical locations at metropolitan and coastal regions of Rio de Janeiro state, Brazil. No residues of 294 evaluated pesticides were detected in the samples. In both regions, organic beans had 17% fewer lipids, 10% less phytate and 20% more proteins when compared to nonorganic ones. Sixteen different phenolic compounds were identified as soluble and insoluble forms in black beans, with anthocyanins being the most abundant (on average, 66%). In both regions, soluble and total phenolic compounds contents in organic beans were consistently higher (on average, 25% and 28%, respectively) than in nonorganic ones. Our results show that organic farming improves the nutritional profile and increases the phenolic compounds content of black beans.

14.
Front Endocrinol (Lausanne) ; 12: 609263, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33815275

RESUMO

Introduction: Pheochromocytomas are rare catecholamine-producing neuroendocrine tumours arising from chromaffin cells of the adrenal medulla or extra-adrenal sympathetic paraganglia. Recent studies have indicated that up to 40% of pheochromocytomas could be attributable to an inherited germline variant in an increasing list of susceptibility genes. Germline variants of the MYC-associated factor (MAX) gene have been associated with familial pheochromocytomas and paragangliomas with an autosomal dominant pattern of inheritance, a median age at onset of 33 years and an overall frequency estimated at 1.9%. We describe a deleterious MAX variant associated with hereditary pheochromocytoma in a family with four affected individuals. Case presentation: The first patient presented with bilateral pheochromocytoma in 1995; genetic testing was proposed to his oldest son, when he was diagnosed with a bilateral pheochromocytoma with a synchronous neuroblastoma. Upon the identification of the MAX variant c.97C>T, p.(Arg33Ter), in the latter individual, his two siblings and their father were tested and the same variant was identified in all of them. Both siblings were subsequently diagnosed with pheochromocytoma (one of them bilateral) and choose to remain on active surveillance before they were submitted to adrenalectomy. All the tumours secreted predominantly norepinephrine, accordingly to the typical biochemical phenotype ascribed to variants in the MAX gene. Conclusion: This case series is, to our knowledge, the one with the largest number of individuals with hereditary pheochromocytoma with a deleterious MAX variant in the same family. It is also the first case with a synchronous pheochromocytoma and neuroblastoma in carriers of a MAX deleterious variant. This report draws attention to some ill-defined features of pheochromocytoma and other malignancies associated with a MAX variant and highlights the importance of understanding the genotype-phenotype correlation in hereditary pheochromocytoma and the impact of oriented genetic testing to detect, survey and treat patients and kindreds at risk.


Assuntos
Neoplasias das Glândulas Suprarrenais/genética , Fatores de Transcrição de Zíper de Leucina e Hélice-Alça-Hélix Básicos/genética , Neoplasias Primárias Múltiplas/genética , Neuroblastoma/genética , Feocromocitoma/genética , Adolescente , Neoplasias das Glândulas Suprarrenais/diagnóstico , Adulto , Idade de Início , Família , Evolução Fatal , Estudos de Associação Genética , Testes Genéticos , Mutação em Linhagem Germinativa , Humanos , Masculino , Neoplasias Primárias Múltiplas/diagnóstico , Neuroblastoma/diagnóstico , Feocromocitoma/diagnóstico , Portugal
15.
J Food Sci Technol ; 57(5): 1719-1730, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-32327783

RESUMO

In this study, a preliminary food quality and safety assessment was performed on organic and cage-free egg samples marketed in the state of Rio de Janeiro, Brazil, that were analyzed concerning veterinary drug and pesticide residues using high performance and ultra performance liquid chromatography coupled to tandem mass spectrometry. The polyether ionophore salinomycin was detected in two organic egg samples (25% of the organic samples), one with an estimated concentration even higher than the maximum permissible amount of 3 µg kg-1 established for conventional eggs by the European Commission. The other sample presented a concentration higher than the limit of detection of 0.3 µg kg-1, but lower than the lowest calibration level of 1.5 µg kg-1. Regarding pesticide residues, spiroxamine, pirimiphos, mephosfolan and pyraclostrobin were identified at residual levels below the lowest calibration level of 4.5 µg kg-1, except for one organic egg sample, presenting 8.3 µg kg-1 of spiroxamine. Spiroxamine was identified in 62% of the assessed samples. These findings indicate that non-conformities were found even with a limited number of samples, impacting the confidence in the quality of organic and cage-free alternative systems in egg production. The hazard index (HI) approach demonstrated that chemical food safety might be at risk, since a mixture of the detected analytes may pose a risk for children up to 27 kg, through egg consumption.

16.
Saúde Soc ; 26(1): 15-28, jan.-mar. 2017. tab
Artigo em Português | LILACS | ID: biblio-962511

RESUMO

Resumo O objetivo deste artigo foi analisar os comentários de leitores de um jornal brasileiro sobre o texto intitulado "Sedentarismo mata?", publicado em sua versão on-line, relacionando-os ao complexo debate sobre o tema no âmbito da saúde coletiva. Para tanto, os 46 comentários emitidos foram agrupados em categorias emanadas das ideias de (Giddens, 1991), da leitura isotópica (Greimas, 1987) e, por fim, analisados sob a perspectiva da semiótica. A variedade de opiniões sobre a mortalidade do sedentarismo denota a complexidade da vida humana e, por conseguinte, a dificuldade inerente à formulação de ações e políticas no campo da prevenção em saúde. Assim, para além de ações individualizantes e moralizadoras dos estilos de vida arriscados, a redução das desigualdades sociais deve ser o imperativo ético e pressuposto básico de toda ação e política de saúde.


Abstract The authors analyzed 46 readers' comments on a short article named "Does sedentarism kill?", published in the online version of a Brazilian newspaper. Their analysis considers the complexities of the debates on sedentarism taking place in the collective health fora. The comments were grouped according to categories based on Giddens' work (1991), Greimas's isotopic reading (1987), and were eventually analyzed under a semiotic perspective. The diversity of opinions on the causality between sedentarism and mortality demonstrates how complex human life is and thus how difficult it is to design health-related prevention action and policies. Therefore, beyond individualistic and moralizing measures against risky lifestyles, the reduction of social inequalities should be the health ethical imperative and basic premise underlying policies and public action.


Assuntos
Humanos , Masculino , Feminino , Percepção , Risco , Comportamento Sedentário , Política de Saúde
17.
Rev. Inst. Adolfo Lutz (Online) ; 74(3): 225-238, jul.-set. 2015. tab, ilus
Artigo em Português | LILACS, Sec. Est. Saúde SP, SESSP-CTDPROD, Sec. Est. Saúde SP, SESSP-ACVSES, SESSP-IALPROD, Sec. Est. Saúde SP, SESSP-IALACERVO | ID: lil-786794

RESUMO

O presente estudo teve por finalidade avaliar a situação atual do consumo de alimentos à base de soja disponíveis no mercado em relação à presença de resíduos de agrotóxicos. A metodologia foi validada para efetuar a determinação de 122 resíduos de pesticida na matriz soja e de 124 substâncias na matriz extrato solúvel de soja. As curvas analíticas estudadas nas duas matrizes apresentaram linearidade na faixa de trabalho analisada (0,002 a 0,200 μg.mL-1). A exatidão e a precisão em dois níveis de fortificação apresentaram valores de 70 % a 119 % de recuperação e de CV (%) de 1 a 18. O Limite de Quantificação(LQ) apresentou resultados satisfatórios (0,005 a 0,215 mg.kg-1 matriz soja e 0,006 a 0,028 mg.kg-1 matriz extrato solúvel de soja) em relação aos Limites Máximos de Resíduo (LMRs) quando existentes. Para realizar o estudo, foram selecionadas 42 amostras de soja e materiais à base de soja. As amostras foram adquiridas, no período de 2011 a 2012, em estabelecimentos comerciais na região metropolitana do Rio de Janeiro. Esta avaliação exploratória de contaminação evidenciou o uso inapropriado dos agrotóxicos ciprodinil, pirimifós-metílico, ciazofamida e butóxido de piperonilana soja e de estar em desacordo com a legislação vigente.


This study aimed atassessing the current status of the consumption of soy-based foods available atmarket regarding to the presence of pesticide residues. The methodology was validated for determining122 pesticides residues in the matrix soybean and 124 in the matrix of soluble soy extract. The analytical curvesstudied in the two arrays showed linearity in the evaluated zone (0.002 to 0.200 μg.mL-1). The accuracy andprecision of two fortification ranges exhibited recovery values of 70 % - 119 %, and CV (%) values from 1 to 18.The limit of quantification (LQ) showed satisfactory results (0.005 to 0.215 mg.kg-1 matrix of soybeansand 0.006 to 0.028 mg.kg -1 matrix of soluble soy extract) regarding to the maximum residue limits (MRLs) when they occur. Forty-two soy and soy-based samples were randomly selected for this study. The samples were acquired in the period from 2011 to 2012 at commercial establishments located in the metropolitan area of Rio de Janeiro. This study evidenced the contamination of soybeans with pesticides residues as cyprodinil, pirimiphos-methyl, cyazofamid, and piperonyl butoxide, indicating their inappropriate use and being noncompliant to the legislationin force.


Assuntos
Agroquímicos , Cromatografia Líquida , Espectrometria de Massas , Estudos de Validação como Assunto , Glycine max , Resíduos de Praguicidas
18.
Fisioter. mov ; 28(2): 307-317, Apr-Jun/2015. graf
Artigo em Inglês | LILACS | ID: lil-751935

RESUMO

Introduction Individuals with osteogenesis imperfecta (OI) have bone fragility and osteopenia which cause fractures, mobility restriction and pain. Objective This article examines a physiotherapy experience with people diagnosed with OI in an OI reference center of Rio de Janeiro. Materials and methods This was an exploratory qualitative study, based on field notes related to physiotherapy care to 92 patients of both genders with clinical diagnoses of OI, aged between 30 days and 37 years old, during the period 2004–2008. The analysis comprised a reading of the field notes as a corpus, considering them as a means of understanding the subjects’ perspectives. Two different forms of codification were applied — open and focused — followed by semiotic analysis techniques. Results Early encouragement to perform active movements within a safe environment, or even after fractures, reduced articular contractures and enhanced muscular tonus; physiotherapy manipulation facilitated the integration of body perception in relation to movements and responses to tactile-kinesthetic-vestibular stimuli; promoting family involvement, by adopting practical solutions adapted to each patient’s reality, contributed to reduce fear of fractures and allowed the construction of a new functional image. Conclusion Physiotherapy assessment and treatment should be based not only on clinical and neurofunctional elements and technical strategies, but also on a dialogue that includes the multiple dimensions of the patients and their family members, in order to engage them in a learning process to stimulate potentials, abilities and competences. .


Introdução Os indivíduos com osteogênese imperfeita (OI) sofrem de grande fragilidade óssea e osteopenia, que ocasionam inúmeras fraturas, restrição da mobilidade e dor. Objetivo Expor pacientes com diagnóstico de OI à experiência do tratamento fisioterapêutico levado a cabo em centro de referência em Osteogênese Imperfeita do Rio de Janeiro. Materiais e métodos Estudo qualitativo, exploratório, baseado em notas de campo relativas à assistência fisioterapêutica a 92 pacientes com diagnóstico clínico de OI, com idade variando entre 30 dias e 37 anos, de ambos os sexos, atendidos entre 2004 e 2008. A análise compreendeu a leitura das anotações enquanto um corpus, considerando todo o registro da experiência de campo tal como ela se desenvolveu, empreendendo-se uma codificação aberta e uma enfocada, seguidas da aplicação de técnicas semióticas. Resultados O incentivo precoce aos movimentos ativos em ambiente seguro ou mesmo após as fraturas reduziu contraturas articulares e melhorou o tônus muscular; os manuseios fisioterapêuticos empregados facilitaram a integração da percepção do corpo quanto à ação dos movimentos e às respostas aos estímulos táteis, cinestésicos e vestibulares; a promoção do envolvimento familiar, via adoção de soluções práticas adaptadas à realidade de cada paciente, ajudou no afastamento do medo às fraturas e permitiu a construção de uma nova imagem corporal. Conclusão Para além da técnica, dos componentes clínicos e neurofuncionais, a ação fisioterapêutica deve se assentar num diálogo que permita abranger as múltiplas dimensões dos pacientes e seus familiares, no sentido de engajá-los em um processo de aprendizagem agenciador de potencialidades, competências e habilidades. .

19.
Salud Colect ; 10(2): 157-69, 2014 Aug.
Artigo em Espanhol | MEDLINE | ID: mdl-25237797

RESUMO

In this article we present a published case study as an object of reflection. On this basis, we carried out a partial reconstruction of the process of study and diagnostic elaboration of the Uruguay syndrome, showing the circumstances of the case, the selection and interpretation of "clues," and some of the details relevant to the clinical reasoning. Our starting point is the recognition of the narrative nature of clinical knowledge and of the clinical method as an indiciary method. The manuscript of the Uruguay syndrome has a narrative structure adjusted to the conventions of a scientific article, which gives lesser importance to the clinical method. We carried out diverse methodical encounters, mainly involving in-depth interviews with the authors of the manuscript and observation in their workplace. The text seeks to recover the histories of work based on the indiciary or semiotic model of knowledge, and recognize the importance of this model in medical practice.


Assuntos
Tomada de Decisão Clínica/métodos , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Antropologia Médica , Genética Médica , Humanos , Narração , Síndrome
20.
Salud colect ; 10(2): 157-169, may.-ago. 2014. ilus
Artigo em Espanhol | LILACS | ID: lil-725865

RESUMO

En este artículo presentamos un relato de caso publicado como objeto de reflexión, sobre el que se realizó una reconstrucción parcial del proceso de estudio y una elaboración diagnóstica del síndrome Uruguay, mostrando las circunstancias del caso, la selección e interpretaciones de "pistas", y algunos de los detalles que fueron relevantes en el raciocinio clínico. Nuestro punto de partida es el reconocimiento del carácter narrativo del conocimiento clínico y del método clínico como un método indiciario. El manuscrito del síndrome Uruguay presenta una estructura narrativa ajustada a las convenciones del artículo científico que pone al método clínico en un segundo plano. Nuestros encuentros metódicos fueron diversos y comprendieron, sobre todo, entrevistas en profundidad a los autores del manuscrito y observaciones en su lugar de trabajo. El texto propone recuperar las historias de trabajo basadas en un modelo de conocimiento indiciario o semiótico y reconocer su importancia en la práctica médica.


In this article we present a published case study as an object of reflection. On this basis, we carried out a partial reconstruction of the process of study and diagnostic elaboration of the Uruguay syndrome, showing the circumstances of the case, the selection and interpretation of "clues," and some of the details relevant to the clinical reasoning. Our starting point is the recognition of the narrative nature of clinical knowledge and of the clinical method as an indiciary method. The manuscript of the Uruguay syndrome has a narrative structure adjusted to the conventions of a scientific article, which gives lesser importance to the clinical method. We carried out diverse methodical encounters, mainly involving in-depth interviews with the authors of the manuscript and observation in their workplace. The text seeks to recover the histories of work based on the indiciary or semiotic model of knowledge, and recognize the importance of this model in medical practice.


Assuntos
Humanos , Tomada de Decisão Clínica/métodos , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Antropologia Médica , Genética Médica , Narração , Síndrome
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