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1.
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
2.
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
3.
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.

4.
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.

5.
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.

6.
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
7.
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.

8.
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
9.
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
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.
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
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.
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
14.
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.

15.
Hist Cienc Saude Manguinhos ; 16(2): 361-76, 2009.
Artigo em Português | MEDLINE | ID: mdl-19856749

RESUMO

Based on an interview with José Carlos Cabral de Almeida, who took part in the investigative process, the article explores the research that culminated in the establishment of the genetic etiology of Turner syndrome. Cabral de Almeida also discusses other work that he sees as landmarks in the birth of cytogenetics and offers his current view of the development of clinicalgenetics and the important role played by cytogenetics, which affords more precise means of diagnosis, prognosis, and control ofgenetic disorders. In its conclusion, the article points to pioneer work that continues to impact medical genetics, especially the study of human chromosomes, still fundamental to the success of linking human genetics and disease processes.


Assuntos
Síndrome de Turner/história , Brasil , História do Século XX , Humanos , Entrevistas como Assunto , Cariotipagem , Síndrome de Turner/genética
16.
Rev Gaucha Enferm ; 29(3): 438-45, 2008 Sep.
Artigo em Português | MEDLINE | ID: mdl-19068581

RESUMO

This article discusses the perception of a multidisciplinary team caring of ostomized children as to the discharge process. An institutional case study was carried out using a qualitative and strategic approach. Data were collected through 10 semistructured interviews with the pediatric ward professionals at Fernandes Figueira Institute (Fiocruz), and were analyzed using thematic content analysis procedures. The results indicate that, in the professionals' perception, the discharge process is considered as fragmentary; there is a lack of communication among team members; continuing education of the family is an essential aspect; which main hindrance is economic aspect, with the mother as the facilitating element. It was concluded that the technology incorporated to the family routine causes significant changes in the family; there is a gap between discharge planning and execution; teamwork would be best, but it is prevented by the lack of communication. Care must be centered in the family, and therefore continuing education is essential.


Assuntos
Atitude do Pessoal de Saúde , Estomia , Equipe de Assistência ao Paciente , Alta do Paciente , Criança , Família , Humanos
17.
Cad Saude Publica ; 23(3): 627-36, 2007 Mar.
Artigo em Português | MEDLINE | ID: mdl-17334576

RESUMO

In Brazil, research is scarce on multiple disabilities and hearing disability in particular. Researchers began a pioneering study in 1992, evaluating students from public special education programs, currently focused on hearing disability. The authors evaluated 232 students ranging from 1 to 39 years of age (mean 10.9 years), with male gender prevailing. Consanguinity was present in 7.6% and a family history of deafness in 19%. Gestational complications were recorded in 33% of cases. Normal labor occurred in 72%, and delivery at term in 75%. Neonatal complications were present in 35% of the sample. Environmental causes accounted for 56% of the sample, genetic causes 20.7%, and the remaining 20.7% were classified as idiopathic. The current findings corroborate those from the literature. We believe that this study can spark greater concern for the hearing-disabled and that through increased knowledge of this group's characteristics it may foster strategies to facilitate interaction with society as a whole.


Assuntos
Educação de Pessoas com Deficiência Auditiva , Educação Inclusiva , Perda Auditiva/etiologia , Adolescente , Adulto , Brasil , Criança , Pré-Escolar , Estudos Transversais , Surdez/etiologia , Surdez/genética , Surdez/prevenção & controle , Feminino , Perda Auditiva/genética , Perda Auditiva/prevenção & controle , Humanos , Lactente , Masculino , Fatores Sexuais
18.
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.

19.
Cad Saude Publica ; 22(12): 2599-609, 2006 Dec.
Artigo em Português | MEDLINE | ID: mdl-17096039

RESUMO

The impact of birth defects in Brazil has increased steadily, indicating the need for specific health policy strategies. Despite the close relationship between clinical genetics and management of birth defects, less than 30% of the total demand is currently met by existing genetic services. The main problems are: difficult access to genetic services, services highly concentrated in the South and Southeast regions of the country, and insufficient laboratory support. With the aim of improving management of birth defects, a specific national policy coordinated by the Ministry of Health needs to be developed. The main goal of such a policy should be the organization of a functional integrated genetics network, in addition to rational use of resources and enhanced coverage. In order to formalize a national laboratory network, sample shipping and billing mechanisms must be created. Birth defect prevention, education for the medical community and general population, and solid epidemiological data collection are strongly recommended as complementary measures. If such recommendations are implemented, it could be possible to organize a network for management of birth defects in Brazil that is regionalized, hierarchical, functional, and democratic as well.


Assuntos
Anormalidades Congênitas/prevenção & controle , Serviços em Genética/organização & administração , Acessibilidade aos Serviços de Saúde/organização & administração , Necessidades e Demandas de Serviços de Saúde/organização & administração , Brasil , Serviços em Genética/estatística & dados numéricos , Planejamento em Saúde , Acessibilidade aos Serviços de Saúde/estatística & dados numéricos , Necessidades e Demandas de Serviços de Saúde/estatística & dados numéricos , Humanos , Recém-Nascido , Laboratórios/organização & administração , Laboratórios/estatística & dados numéricos , Política Pública , Inquéritos e Questionários
20.
Cad Saude Publica ; 22(5): 941-50, 2006 May.
Artigo em Português | MEDLINE | ID: mdl-16680347

RESUMO

This study focused on revealing the cultural meanings assigned to womanhood and the health-disease process in women according to the discourse of medical residents in Obstetrics/Gynecology at the Fernandes Figueira Institute, a public reference hospital specializing in maternal-child care in Rio de Janeiro. The research had two components: participatory observation in Ob-Gyn meetings and recording of oral sources. The sign-based method was used to analyze the data. The methodology included qualitative analytical coding of interviews and subsequent semiotic analysis. According to the results: (a) women are seen essentially as mothers, and their illness focuses primarily on their childbearing function; (b) technological evolution, mainly with the increased use of imaging, has reduced the importance of semiology; and (c) within the biotechnological context medicalization is part of the material and semiotic practices.


Assuntos
Ginecologia/educação , Internato e Residência/normas , Obstetrícia/educação , Saúde da Mulher , Características Culturais , Cultura , Feminino , Humanos , Entrevistas como Assunto , Masculino , Ciência de Laboratório Médico , Mães/psicologia , Relações Médico-Paciente , Padrões de Prática Médica
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