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1.
BMC Pediatr ; 24(1): 446, 2024 Jul 11.
Artigo em Inglês | MEDLINE | ID: mdl-38992610

RESUMO

BACKGROUND: The prevalence of complex chronic conditions (CCC), which cause serious limitations and require specialized care, is increasing. The diagnosis of a CCC is a health-illness transition for children and their parents, representing a long-term change leading to greater vulnerability. Knowing the characteristics of these transitional processes is important for promoting safe transitions in this population. This scoping review aimed to map the available evidence on health-illness transition processes in children with complex chronic conditions and their parents in the context of healthcare. METHODS: Six databases were searched for studies focusing on children aged 0-21 years with CCC and their parents experiencing health-illness transition processes, particularly concerning adaptation to illness and continuity of care, in the context of healthcare. Studies within this scope carried out between 2013 and 2023 and written in Portuguese or English were identified. The articles were selected using the PRISMA methodology. The data were extracted to an instrument and then presented with a synthesizing approach supporting the interpretation of the results. RESULTS: Ninety-eight methodologically broad but predominantly qualitative articles were included in this review. Children with CCC have specific needs associated with complex and dynamic health-illness transitions with a multiple influence in their daily lives. Several facilitating factors (p.e. positive communication and a supportive therapeutic relationship with parents and professionals, as well as involvement in a collaborative approach to care), inhibiting factors (p.e. the complexity of the disease and therapeutic regime, as well as the inefficient organization and coordination of teams) and both positive (p.e. well-being and better quality of life) and negative response patterns (p.e. negative feelings about the chronic illness) were identified. Some interventions to support the transitional process also emerged from the literature. Pediatric palliative care is seen as a good practice and an integrative approach for these children and families. CONCLUSION: Health professionals play a fundamental role in supporting the transitional process and promoting positive response patterns. More significant investment is needed at the clinical and academic levels regarding production and dissemination of knowledge in this area to ensure the awareness of children with CCC and that their needs are fully enhanced. REVIEW REGISTRATION: https://doi.org/10.17605/OSF.IO/QRZC8 .


Assuntos
Pais , Humanos , Criança , Doença Crônica/terapia , Pais/psicologia , Adolescente , Pré-Escolar , Adaptação Psicológica , Lactente , Adulto Jovem , Continuidade da Assistência ao Paciente , Transição Epidemiológica
2.
Scand J Gastroenterol ; 49(10): 1219-29, 2014 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-25157637

RESUMO

BACKGROUND: Ulcerative colitis (UC) is associated with an increased risk of colorectal cancer (CRC). Aberrant crypt foci (ACF) are important biomarkers of sporadic CRC risk. Their correlation with the risk of intraepithelial neoplasia (IN) in UC remains unclear. AIMS: To assess whether ACF are a risk factor for IN in long-standing UC and to investigate any correlation between the clinico-epidemiological characteristics and prevalence/number of ACF in these patients. METHODS: Seventy-six patients with long-standing UC were prospectively screened by colonoscopy with chromoendoscopy-guided endomicroscopy. ACF were sought in the lower rectum. RESULTS: Eight INs were detected in seven (9.2%) patients. The ACF prevalence and mean number were 60.5% and 2.4 ± 2.8, respectively. The number of ACF was independently associated with the risk of having IN (odds ratio = 1.338; 95% confidence interval 1.030-1.738). ACF number revealed a good calibration (area under the receiver operating characteristic curve = 0.829) and discriminative ability (p = 0.205, Hosmer-Lemeshow test) for the prediction of synchronous IN. Patients with ≥3 ACF have a significantly higher prevalence of IN than patients with <3 ACF (22.6% vs. 0%, p = 0.001). Using this cut-off value, the performance of ACF in predicting the presence of IN was as follows: sensitivity = 100%, specificity = 65.2%, positive predictive value = 22.6%, and negative predictive value = 100%. Age >40 years, family history of CRC, and increased body mass index (BMI) were associated with a significantly higher number of ACF. CONCLUSION: Long-standing UC patients with ≥3 ACF have a significantly higher likelihood of having IN. Age >40 years, family history of CRC, and increased BMI have significant positive associations with the number of ACF.


Assuntos
Focos de Criptas Aberrantes/patologia , Carcinoma in Situ/patologia , Colite Ulcerativa/patologia , Neoplasias Colorretais/patologia , Focos de Criptas Aberrantes/complicações , Focos de Criptas Aberrantes/epidemiologia , Focos de Criptas Aberrantes/genética , Adulto , Fatores Etários , Idoso , Área Sob a Curva , Índice de Massa Corporal , Carcinoma in Situ/complicações , Carcinoma in Situ/epidemiologia , Colite Ulcerativa/complicações , Colonoscopia , Neoplasias Colorretais/complicações , Neoplasias Colorretais/epidemiologia , Neoplasias Colorretais/genética , Estudos Transversais , Feminino , Humanos , Masculino , Microscopia , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Prevalência , Estudos Prospectivos , Curva ROC , Reto , Fatores de Risco
3.
Int J Colorectal Dis ; 29(6): 653-61, 2014 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-24651958

RESUMO

PURPOSE: NOD2 mutations have been linked to an increased risk of Crohn's disease and to some of its phenotypes. The association between NOD2 mutations and susceptibility to ulcerative colitis (UC) remains somewhat controversial and potential correlations between these mutations and UC phenotype have not been studied. AIM: To assess whether NOD2 mutations are a risk factor for UC in Portugal and if there are any genotype-phenotype correlations in these patients. METHODS: The three main NOD2 mutations were searched in 200 patients with UC and in 202 healthy controls. RESULTS: NOD2 mutations were present in 28 patients with UC (14.0 %) and in 27 controls (13.4 %) (p = 0.853). Mutation carriers were more likely to receive steroids during the first year of disease than non-carriers (54.2 % vs. 29.6 %, p = 0.018) and among these patients the need for intravenous administration was more frequent in those with the R702W polymorphism (90.0 % vs. 45.5 %, p = 0.014). In patients with severe colitis admitted for intravenous steroids, a greater proportion of mutation carriers was considered intravenous-steroid refractory and required salvage therapy (90.0 % vs. 38.1 %, p = 0.004). Patients with NOD2 mutation were submitted to colectomy more frequently than non-carriers (17.9 % vs. 4.1 %. p = 0.015). No correlation with the need for immunosuppressants/immunomodulators was found. CONCLUSIONS: In the Portuguese population, NOD2 mutations do not increase the risk of UC but are associated with a more aggressive course including greater need of steroids in the first year, increased incidence of intravenous-steroid refractoriness and a higher colectomy rate.


Assuntos
Colite Ulcerativa/genética , Proteína Adaptadora de Sinalização NOD2/genética , Adulto , Estudos de Casos e Controles , Colectomia , Colite Ulcerativa/tratamento farmacológico , Colite Ulcerativa/cirurgia , Resistência a Medicamentos , Feminino , Predisposição Genética para Doença , Glucocorticoides/uso terapêutico , Heterozigoto , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Fenótipo , Polimorfismo Genético , Prognóstico
4.
Clin Ophthalmol ; 18: 1381-1390, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38770398

RESUMO

Purpose: To evaluate the progression of chorioretinal atrophic areas associated with myopic choroidal neovascularization (CNV) in high myopic patients followed by a minimum period of 10 years. Patients and Methods: Patients with myopic CNV lesions that achieved clinical and structural remissions over 10 years of follow-up were included. Medical records were reviewed for CNV characterization and treatment, best-corrected visual acuity at baseline (BCVA0), immediately after the last treatment (BCVA1) and at the latest visit (BCVA2). Fundus autofluorescence (FAF) was used to quantify the amount of atrophic area increase per year associated with the treated myopic CNV lesion. The first FAF performed after treatment suspension (FAF1) was compared with the most recent exam (FAF2). Results: Thirty-six eyes from 36 patients were included. Mean total follow-up was 12.38 ± 2.68 years. Mean number of intravitreal injections (IVI) was 12.50 ± 12.40 and 25% of the eyes had previous treatment with photodynamic therapy (PDT). Mean improvement between BCVA0 and BCVA1 was 5.58 ± 15.98 letters (p < 0.001). However, a drop of 8.03 ± 12.25 letters was noticed between BCVA1 and BCVA2. FAF1 was 6.34 ± 4.92mm2 and increased to 9.88 ± 7.56mm2 (3.54 ± 3.79mm2 variation p < 0.001). The mean growth rate of the atrophic area was 0.89 ± 0.84mm2 per year. BCVA2 negatively correlated with FAF2 (k = -0.498, p = 0.002) being worse in patients with higher atrophic area growth rate (k = -0.341, p = 0.042). Eyes treated with PDT needed less IVI (5.89 ± 5.21 vs 14.70 ± 13.36, p = 0.008) but had larger FAF1 (9.80 ± 5.33 vs 5.19 ± 4.27, p = 0.013) and FAF2 (16.05 ± 7.10 vs 7.83 ± 6.63, p = 0.003). Hypothyroidism was associated with higher atrophy growth rate (1.55 ± 1.15 vs 0.73 ± 0.67, p = 0.016). Conclusion: This research demonstrates the importance of chorioretinal atrophy progression after myopic CNV lesions regression and its impact on visual prognosis, reporting a mean yearly growth of 0.89 mm2 in atrophic areas. Previous treatment with PDT and hypothyroidism were identified as risk factors associated with larger atrophic areas and worse visual outcomes.

5.
Cureus ; 16(5): e60277, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38872649

RESUMO

The purpose of this clinical report is to describe a 10-year clinical outcome of advanced surface ablation with photorefractive keratectomy (PRK) in a patient who had been previously incorrectly diagnosed with keratoconus (KC). Corneal ectasia is a rare but extremely relevant complication of laser vision correction, and KC represents a major contraindication for these procedures. Nonetheless, some surface ablation procedures, such as PRK, might be a valid option for particular patients with atypical corneal topography or subclinical or mild forms of KC. Patient education and complete preoperative refractive multimodal imaging are essential for a more conscious therapeutic decision, minimizing iatrogenic ectasia, as well as decreasing the number of patients who are incorrectly denied refractive surgery, as was the patient presented in this study.

6.
Clin Ophthalmol ; 18: 393-407, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38348140

RESUMO

Purpose: To report the 4-year outcomes of transepithelial accelerated corneal collagen crosslinking (TE-ACXL) in the treatment of eyes with progressive keratoconus (KC). Methods: Eyes of patients who underwent TE-ACXL (6mW/cm2 for 15 minutes) for progressive KC and presented 48 months of follow-up were included. Corrected distance visual acuity (CDVA), keratometry measurements (Kmax, maximum keratometry, Kmean, mean keratometry and Astg, corneal astigmatism), thinnest corneal thickness (PachyMin), and topographic, and tomographic indices (specifically the posterior radius of curvature from the 3.0 mm centered on the thinnest point of the cornea (PRC), and the D-index) were analysed preoperatively and every 12 months after TE-ACXL, up to 48 months. Progression after TE-ACXL was considered when eyes presented ≥1 criteria: (1) increase of ≥1D in Kmax or increase of ≥0.75D in Kmean or increase of ≥1D in Astg; (2) reduction of ≥0.085 mm in PRC; (3) decrease ≥5% in PachyMin. Results: 41 eyes from 30 patients were included, with a mean age at crosslinking of 20.90±4.69 years. There was a significant increase in Kmean (+0.64±1.04 D, p<0.001; +0.98 ± 1.49 D, p<0.001; +1.27±2.01 D, p<0.001; +1.13±2.00 D, p=0.006) and a significant decrease in PRC throughout follow-up (-0.12±0.22, p=0.002; -0.15±0.24, p<0.001; -0.17±0.43, p=0.021; -0.16±0.43, p=0.027). PachyMin decreased significantly at 36 and 48 months (-8.50±15.93 µm, p=0.004; -7.82±18.37, p=0.033). According to our progression criteria, there was a major progression rate throughout follow-up (57.1%, 61.1%, 58.8%, and 67.9%, respectively). Surgery and follow-up were uneventful in all subjects. Eleven eyes (26.8%) required further procedures, ≥36 months after the initial TE-ACXL, due to persistent progressive disease. Conclusion: TE-ACXL proved to be a safe therapeutic option for progressive KC. However, its efficacy is deemed unsatisfactory, as a notable proportion of affected eyes may continue to advance within a 4-year timeframe, necessitating additional procedures to halt the disease's course.

7.
Cont Lens Anterior Eye ; 47(2): 102119, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38220498

RESUMO

PURPOSE: To report clinical findings and prognostic factors for visual and morphological outcomes in patients with Acanthamoeba keratitis (AK). METHODS: Single-center, retrospective, longitudinal study of 51 cases of AK diagnosed by real-time polymerase chain reaction (RT-PCR) between March 2010 and October 2022. The primary outcome was the final best corrected visual acuity (BCVA). Poor visual outcome was defined as a final BCVA ≥ 1 logMAR unit, while good visual outcome was defined as a final BCVA < 1 logMAR unit. Eyes from these two groups were compared, regarding demographic and initial clinical variables, anti-Acanthamoeba treatment used, and complications of the disease. Early diagnosis was defined as ≤ 14 days from symptom onset to diagnostic confirmation and initiation of Acanthamoeba medical treatment. Multivariable logistic regression was used to determine predictors of poor visual outcome. RESULTS: A total of 51 eyes from 46 patients diagnosed with AK, all contact lens (CL) wearers, were included in this study. Average follow-up was 39.0 ± 30.2 [total range 14-120] months. Thirty-one eyes (60.8 %) presented good visual outcome, with a lower baseline age (30.5 ± 9.0 vs. 42.3 ± 15.8; p = 0.020), better initial BCVA (0.8 ± 0.7 logMAR units vs. 1.3 ± 0.9 logMAR units; p = 0.047), higher rate of early diagnosis (45.2 % vs. 5.6 %; p = 0.004), and higher rate of therapeutic epithelial debridement (64.5 % vs. 10 %; p < 0.001). 20 eyes (39.2 %) presented poor visual outcome, with 12 eyes undergoing evisceration/enucleation (23.5 %). These 20 eyes presented a higher rate of complications (90 % vs. 61.3 %; p = 0.031). In multivariable analysis, early diagnosis of AK (OR 19.78; 95 % CI 2.07-189.11; p = 0.010) and therapeutic epithelial debridement (OR 19.02; 95 % CI 3.27-110.57; p = 0.001) were associated with a good visual outcome. CONCLUSIONS: In the present study, poor visual outcome was present in 39 % of affected eyes. Early AK diagnosis (≤14 days from symptom onset) and therapeutic epithelial debridement were associated with good final visual outcome.


Assuntos
Ceratite por Acanthamoeba , Acanthamoeba , Humanos , Ceratite por Acanthamoeba/terapia , Ceratite por Acanthamoeba/tratamento farmacológico , Estudos Retrospectivos , Prognóstico , Estudos Longitudinais , Fatores de Risco
8.
BMC Med Inform Decis Mak ; 13: 84, 2013 Aug 06.
Artigo em Inglês | MEDLINE | ID: mdl-23919501

RESUMO

BACKGROUND: Audit Trails (AT) are fundamental to information security in order to guarantee access traceability but can also be used to improve Health information System's (HIS) quality namely to assess how they are used or misused. This paper aims at analysing the existence and quality of AT, describing scenarios in hospitals and making some recommendations to improve the quality of information. METHODS: The responsibles of HIS for eight Portuguese hospitals were contacted in order to arrange an interview about the importance of AT and to collect audit trail data from their HIS. Five institutions agreed to participate in this study; four of them accepted to be interviewed, and four sent AT data. The interviews were performed in 2011 and audit trail data sent in 2011 and 2012. Each AT was evaluated and compared in relation to data quality standards, namely for completeness, comprehensibility, traceability among others. Only one of the AT had enough information for us to apply a consistency evaluation by modelling user behaviour. RESULTS: The interviewees in these hospitals only knew a few AT (average of 1 AT per hospital in an estimate of 21 existing HIS), although they all recognize some advantages of analysing AT. Four hospitals sent a total of 7 AT - 2 from Radiology Information System (RIS), 2 from Picture Archiving and Communication System (PACS), 3 from Patient Records. Three of the AT were understandable and three of the AT were complete. The AT from the patient records are better structured and more complete than the RIS/PACS. CONCLUSIONS: Existing AT do not have enough quality to guarantee traceability or be used in HIS improvement. Its quality reflects the importance given to them by the CIO of healthcare institutions. Existing standards (e.g. ASTM:E2147, ISO/TS 18308:2004, ISO/IEC 27001:2006) are still not broadly used in Portugal.


Assuntos
Sistemas de Informação Hospitalar/normas , Hospitais/normas , Auditoria Médica/normas , Adulto , Humanos , Entrevista Psicológica , Portugal
9.
BMC Complement Altern Med ; 13: 184, 2013 Jul 19.
Artigo em Inglês | MEDLINE | ID: mdl-23870175

RESUMO

BACKGROUND: Propolis is a resin collected by bees from plant buds and exudates, which is further processed through the activity of bee enzymes. Propolis has been shown to possess many biological and pharmacological properties, such as antimicrobial, antioxidant, immunostimulant and antitumor activities. Due to this bioactivity profile, this resin can become an alternative, economic and safe source of natural bioactive compounds.Antitumor action has been reported in vitro and in vivo for propolis extracts or its isolated compounds; however, Portuguese propolis has been little explored. The aim of this work was to evaluate the in vitro antitumor activity of Portuguese propolis on the human colon carcinoma cell line HCT-15, assessing the effect of different fractions (hexane, chloroform and ethanol residual) of a propolis ethanol extract on cell viability, proliferation, metabolism and death. METHODS: Propolis from Angra do Heroísmo (Azores) was extracted with ethanol and sequentially fractionated in solvents with increasing polarity, n-hexane and chloroform. To assess cell viability, cell proliferation and cell death, Sulforhodamine B, BrDU incorporation assay and Anexin V/Propidium iodide were used, respectively. Glycolytic metabolism was estimated using specific kits. RESULTS: All propolis samples exhibited a cytotoxic effect against tumor cells, in a dose- and time-dependent way. Chloroform fraction, the most enriched in phenolic compounds, appears to be the most active, both in terms of inhibition of viability and cell death. Data also show that this cytotoxicity involves disturbance in tumor cell glycolytic metabolism, seen by a decrease in glucose consumption and lactate production. CONCLUSION: Our results show that Portuguese propolis from Angra do Heroísmo (Azores) can be a potential therapeutic agent against human colorectal cancer.


Assuntos
Neoplasias Colorretais/metabolismo , Glicólise/efeitos dos fármacos , Extratos Vegetais/farmacologia , Própole/química , Linhagem Celular Tumoral , Proliferação de Células/efeitos dos fármacos , Sobrevivência Celular/efeitos dos fármacos , Neoplasias Colorretais/fisiopatologia , Humanos , Extratos Vegetais/química , Portugal
10.
Case Rep Ophthalmol ; 14(1): 519-527, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37901634

RESUMO

The purpose of this clinical report was to describe a case of Cohen syndrome with its classical ophthalmological manifestations and novel VPS13B genetic variants. A 39-year-old Caucasian male patient with severe rod-cone retinal dystrophy and no history of parental consanguinity was referred to our ophthalmology department. Ophthalmologic history included high bilateral myopia and a 3-year prior bilateral cataract surgery. Systemic history included facial dysmorphism, intellectual disability, transient neutropenia, microcephaly, truncal obesity, and joint hyperextensibility. The patient presented classic fundoscopic features of pigmentary retinopathy in both eyes (OU). Optical coherence tomography (OCT) revealed bilateral central and diffuse retinal pigment epithelium (RPE) and outer retinal atrophy without concomitant macular edema, while fluorescein angiography (FA) demonstrated diffuse RPE atrophy with prominent choroidal vessels. The full-field ERG (ffERG) showed no dark-adapted or light-adapted responses and the P50 wave was not identified in the pattern ERG (pERG). The genetic study revealed two novel heterozygous variants in the VPS13B gene: (1) c.5138T>C p.(Leu1713Pro) and (2) c.10179del p.(Asn3393Lysfs*37), thus confirming the diagnosis of Cohen syndrome. This case report introduces these two novel genetic variants to the literature, in a patient with classic phenotypic characteristics of Cohen syndrome, a rare genetic disease which has been increasingly reported since its first description in 1973.

11.
Clin Ophthalmol ; 17: 3613-3627, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38026596

RESUMO

Purpose: To evaluate whether repeated intravitreal injections (IVI) with an anti-vascular endothelial growth factor (anti-VEGF) agent are associated with glaucomatous progression in eyes with glaucoma spectrum diseases (GSD). Methods: Single-center, retrospective, longitudinal study of patients with bilateral and similar GSD who: (1) received ≥8 IVI in only one eye during the study period; (2) had ≥2 retinal nerve fiber layer thickness (RNFL) measurements obtained by spectral-domain optical coherence tomography (SD-OCT) at least 12 months apart. The primary outcome was the absolute RNFL thickness change, comparing injected and fellow uninjected eyes. Linear mixed effects models were constructed, including a multivariable model. Results: Sixty-eight eyes from 34 patients were included, 34 injected and 34 fellow uninjected eyes. Average baseline age was 67.68±21.77 years with a follow-up of 3.66±1.89 years and 25.12±14.49 IVI. RNFL thickness decreased significantly from 80.92±15.78 to 77.20±17.35 µm (p<0.001; -1.18±1.93 µm/year) in injected eyes and from 79.95±17.91 to 76.61±17.97 µm (p<0.001; -1.07±0.98 µm/year) in uninjected eyes. In a multivariable linear mixed model of injected eyes, only higher baseline RNFL thickness (p < 0.001) significantly predicted higher absolute RNFL thickness loss. Neither absolute RNFL thickness variation (p=0.716) nor RNFL rate (p=0.779) was significantly different between paired injected and uninjected eyes. Absolute IOP variation was not significantly different between groups (16.62±4.77 to 15.09±4.34 mmHg in injected eyes and 17.68±5.01 to 14.50±3.39 mmHg in fellow uninjected eyes; p=0.248). The proportion of eyes receiving glaucoma medical treatment increased significantly in both groups (55.9% to 76.5% in injected eyes; p=0.039; 58.8% to 76.5% in uninjected eyes; p = 0.031). The number of glaucoma medications also increased significantly in both groups (1.03±1.11 to 1.59±1.18 glaucoma medications in injected eyes; p=0.003; 1.09±1.11 to 1.56±1.19 glaucoma medications in uninjected eyes; p=0.003). Conclusion: Repeated IVI do not seem to accelerate glaucomatous progression. Future studies with a longer follow-up are needed.

12.
Rev Bras Ginecol Obstet ; 44(4): 425-433, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-35623621

RESUMO

Diagnosing polycystic ovary syndrome (PCOS) during adolescence is challenging since normal pubertal development overlap typical features of this syndrome. The authors aim to summarize the existing evidence concerning PCOS in adolescence, particularly its diagnostic criteria and therapeutic options. A search throughout medical databases such as PubMed and MedScape was performed. Diagnostic criteria include irregular menstrual cycles according to time postmenarche and evidence of clinical hyperandrogenism and/or biochemical hyperandrogenism, provided other causes have been excluded. Polycystic ovarian morphology ought not to be used as a diagnostic criterion. Treatment should target manifestations and/or comorbidities, even in the absence of a definite diagnosis. Lifestyle interventions are the first-line treatment. Combined oral contraceptives, metformin or antiandrogens may also be considered as adjuvants. Screening for PCOS in adolescence is crucial as it allows an early intervention on the symptoms and comorbidities presented leading to better long-term reproductive and metabolic outcomes.


Diagnosticar a síndrome do ovário policístico (SOP) durante a adolescência é um desafio, uma vez que o desenvolvimento puberal normal se sobrepõe às características típicas desta síndrome. Os autores têm por objetivo resumir as evidências existentes sobre a SOP na adolescência, particularmente seus critérios diagnósticos e opções terapêuticas. Uma pesquisa em bases de dados médicas como PubMed e MedScape foi realizada. Os critérios de diagnóstico incluem ciclos menstruais irregulares de acordo com o tempo pós-menarca e evidência de hiperandrogenismo clínico e/ou hiperandrogenismo bioquímico, após exclusão de outras causas. A morfologia policística dos ovários não deve ser usada como um critério diagnóstico. O tratamento deve ser direcionado às manifestações e/ou comorbilidades, mesmo na ausência de um diagnóstico definitivo. As intervenções no estilo de vida são o tratamento de primeira linha. Contraceptivos orais combinados, metformina ou antiandrogênios também podem ser considerados como adjuvantes. O rastreamento da SOP na adolescência é fundamental, pois permite uma intervenção precoce ao nível dos sintomas e comorbilidades presentes levando a melhores resultados reprodutivos e metabólicos a longo prazo.


Assuntos
Hiperandrogenismo , Metformina , Síndrome do Ovário Policístico , Adolescente , Feminino , Humanos , Hiperandrogenismo/diagnóstico , Hiperandrogenismo/etiologia , Hiperandrogenismo/terapia , Estilo de Vida , Distúrbios Menstruais/tratamento farmacológico , Metformina/uso terapêutico , Síndrome do Ovário Policístico/tratamento farmacológico , Síndrome do Ovário Policístico/terapia
13.
GE Port J Gastroenterol ; 29(3): 178-186, 2022 May.
Artigo em Inglês | MEDLINE | ID: mdl-35702171

RESUMO

Introduction: Endoscopy remains the exam of choice in the evaluation of activity in Crohn's disease (CD) after surgery (ACD-AS). However, intestinal ultrasound (IUS) may represent a noninvasive alternative. The objective of this study is to determine the diagnostic accuracy of this modality compared to endoscopy. Material and Methods: This is a cross-sectional study, comprising a period of 14 months, carried out in patients with established CD and ileocecal resection due to the disease. IUS (HI-VISION Avius®, Tokyo, Japan) was performed with linear probe B-mode/Doppler prior to ileocolonoscopy. IUS and ileocolonoscopy were performed on the same day by 2 specialists in Gastroenterology dedicated to ultrasound and inflammatory bowel disease, in a double-blind mode. Collected demographic and clinical data (Harvey-Bradshaw Index [HBI]; remission ≤4), serological/fecal inflammatory parameters (leukocytes [4-10 × 109 cells/L], C-reactive protein [≤0.5 mg/dL], and fecal calprotectin [<50 mg/kg]), endoscopy (Rutgeerts score: remission 3 mm and/or Limberg score >1) was abnormal in 61.5% (n = 24) of the cases. Endoscopic remission (Rutgeerts score

Introdução: A endoscopia permanece o exame de eleição na avaliação da atividade da Doença de Crohn (DC) póscirurgia (ADC-PC). No entanto, a ecografia dirigida à parede digestiva (Eco-PD) pode representar uma alternativa não-invasiva. O objetivo do trabalho é determinar a acurácia diagnóstica e concordância desta modalidade comparativamente à endoscopia. Materiais e métodos: Estudo transversal, compreendendo um período de 14 meses, efetuado a doentes com DC estabelecida e resseção ileocecal pela doença. Realizada Eco-PD (HI-VISION Avius®, Tokyo, Japan) com sonda linear em modo-B/Doppler previamente à ileocolonoscopia. A Eco-PD e ileocolonoscopia foram realizadas no mesmo dia por 2 especialistas dedicados a ecografia e doença inflamatória intestinal, de forma duplamente cega. Recolhidos dados demográficos, clínicos (índice Harvey-Bradshaw [HBI; remissão: ≤4]), parâmetros inflamatórios serológicos/fecais (leucócitos [4 < N < 10 × 109 células/L], proteína C reativa [≤0,5 mg/dL], calprotectina fecal [N <50 mg/kg]), endoscópicos (score Rutgeerts: remissão < i2) e ecográficos (espessamento [N ≤ 3mm] e vascularização da parede digestiva pelo score semi-quantitativo de Limberg [ausente = 0; escassa = 1; moderada = 2; marcada = 3]). Resultados: Incluídos 39 doentes (sexo feminino: 64,1%, idade média: 43,5 ± 15,3 anos). Seguimento mediano pós-cirurgia de 9 anos (IQR 9). Classificação Montreal: L1 61,5% (n = 24), L3 38,5% (n = 15), B1 e B2 28,2% (n = 11) e B3 43,6% (n = 17).A maioria estava em remissão clínica (87,2%; n = 34) com HBI médio de 2,1 ± 2,2. Vinte e dois doentes (56,4%) tinham marcadores inflamatórios dentro de parâmetros normais. A Eco-PD (espessamento parede intestinal >3 mm e/ou Limberg >1) foi anormal em 61,5% (n = 24). Remissão endoscópica (Rutgeerts < i2) em 53,8% (n = 21). Comparativamente à endoscopia, a Eco-PD (AUROC 0,75; p = 0,007) mostrou acuidade diagnóstica superior aos parâmetros inflamatórios (AUROC 0,66; p = 0,083) e clínica (AUROC 0,64; p = 0,139). A ecografia mostrou uma moderada concordância com a endoscopia (ĸ = 0,5; p = 0,001), superior aos parâmetros inflamatórios (ĸ = 0,33, p = 0,041) ou clínica (ĸ = 0,29, p = 0,01). Conclusões: A avaliação ecográfica da parede digestiva é uma técnica não invasiva que mostrou uma boa acuidade diagnóstica e uma concordância moderada com a endoscopia, superior à clínica e parâmetros inflamatórios serológicos/fecais.

14.
GE Port J Gastroenterol ; 28(3): 210-214, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-34056046

RESUMO

INTRODUCTION: Percutaneous endoscopic gastrostomy is a safe and effective technique and its use is widely spread. Peristomal leakage may occur within the first few days after gastrostomy tube placement and also in the mature gastrostomy tract. The initial treatment involves conservative measures. If the leakage does not resolve, different endoscopic interventions could be necessary with consequent impairing of enteral nutrition and, in some cases, the need of creating a new gastro-cutaneous fistula. CASE REPORT: We present 4 consecutive cases complicated with late peristomal leakage and medical treatment failure. These patients underwent upper digestive endoscopy, and circumferential fulguration of the mucosa surrounding the tube with pulsed argon plasma coagulation (APC) at 50 W and 1 L/min flow rate was performed. Additional long through-the-scope clips were applied in 2 cases, since the inner orifice remained enlarged, in order to obtain a better closure. Complete leakage and skin changes resolution occurred between 2 and 6 weeks after the procedure (mean 3.5 weeks). The overall mean follow-up was 19 months after the endoscopic procedure (maximum 30 months, minimum 10 months). There was no recurrence of leakage. CONCLUSION: The use of APC alone or combined with long through-the-scope clips in large internal stoma orifice resolved persistent leakage from percutaneous endoscopic gastrostomy in all 4 presented cases without complications. In our case series, this technique appeared to be an effective, safe, and relatively low-cost alternative to the treatment of persistent peristomal leakage of the mature gastrostomy tract.


INTRODUÇÃO: A gastrostomia percutânea endoscópica é uma técnica amplamente usada sendo eficaz e segura. O extravasamento persistente é uma complicação possível do procedimento podendo ocorrer precocemente ou apresentar-se de forma tardia. O tratamento inicial passa por medidas conservadoras. Se o extravasamento persistir apesar das mesmas, várias intervenções endoscópicas podem ser necessárias com interrupção subsequente da nutrição entérica e nalguns casos pode ser mesmo necessário a criação de uma nova fístula gastro cutânea. APRESENTAÇÃO DOS CASOS: Relato de quatro casos consecutivos complicados com extravasamento persistente tardio e com falência ao tratamento conservador. A todos os doentes foi realizada uma endoscopia digestiva alta com fulguração circunferencial com coagulação árgon-plasma (APC) a 50 Watts e fluxo 1L/min. Adicionalmente, em dois casos por presença de orifício interno de grandes dimensões foram aplicados clips longos de modo a obter melhor aproximação dos bordos. Foi conseguida resolução completa do extravasamento e consequentemente das alterações cutâneas em 2 a 6 semanas (média 3,5 semanas). O seguimento após o procedimento foi de 19 meses (máximo 30 meses, mínimo 10 meses). Não se verificaram recorrências do extravasamento. CONCLUSÃO: O uso de APC isoladamente ou em combinação com clips longos nos casos de orifício interno de grandes dimensões resolveu o extravasamento persistente após PEG nos quatro doentes sem registo de complicações. Na nossa série, esta técnica parece ser uma alternativa efetiva, segura e de relativo baixo custo para o tratamento do extravasamento persistente tardio.

15.
Porto Biomed J ; 3(1): e8, 2018 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31595234

RESUMO

BACKGROUND: High-quality cardiopulmonary resuscitation (CPR) remains essential to improve the outcome of patients in sudden cardiorespiratory arrest. Feedback on performance is a crucial component of the learning processes associated with simulation and has been shown to improve CPR quality during simulated cardiac arrest on mannequins. This study aims to evaluate skills acquisition using a new low-cost feedback device for CPR self-training when compared to standard training methods. METHODS: Thirty-nine pregraduated medical and biomedical engineering students were recruited for a longitudinal double-blinded randomized control study. For training Basic Life Support skills, the control group used a standard task-trainer and received feedback from an instructor. The intervention group used the same standard task-trainer, instrumented with the CPR Personal Trainer that provided automated performance feedback (with no instructor) on compression-related parameters. Students' knowledge and skills were assessed before and after training, through a theoretical knowledge test and 2 minutes of CPR practical performance. RESULTS: The theoretical tests showed an improvement both in the intervention and in the control group. For each compression-related parameters (hands position, recoil, rate, and depth), significant increase in scores is observed, between the pre- and the post-test, in both groups. The intervention and control groups presented identical mean differences for the total score (0.72 vs 0.72), with no statistical difference (P = 0.754). CONCLUSIONS: The proposed tool proved to be effective in the acquisition of compression-related skills, with similar outcomes as the traditional instructor-based method, corroborating the hypothesis that a low-cost tool with feedback for CPR self-training can provide an alternative or a complementary extension to traditional training methods. The system can also be considered cost-efficient as it reduces the permanent presence of an instructor for the chest compressions training, promoting regular training outside formal training courses.

16.
GE Port J Gastroenterol ; 25(2): 74-79, 2018 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-29662931

RESUMO

INTRODUCTION: Ulcerative colitis (UC) is a chronic disease but its progressive character, with structural damage, is insufficiently studied. OBJECTIVES: To analyze a group of patients without referral bias, regarding its clinical course, the morphological damage, and functional status. METHODS: We evaluated UC patients diagnosed between January 1, 2000 and December 31, 2004, living in the direct referral area of the hospital and determined the medication use, colectomy rate, structural damage ("lead pipe," stenosis, pseudopolyps, fibrous bridges), and anorectal function (prospective evaluation with the Cleveland Clinic Incontinence Score [CCIS] and the Fecal Incontinence Quality of Life Scale). RESULTS: We identified 104 patients, 47% female, with a mean age at diagnosis of 38 ± 17 years, 24% with proctitis, 57% with left colitis, and 19% with pancolitis. In 3 patients, it was not possible to obtain follow-up data. Of the studied patients, 56% needed corticosteroid therapy, 38% immunosuppressants, and 16% anti-tumor necrosis factors (anti-TNFs). After a mean follow-up of 13 ± 2 years, we found structural damage in 25 patients (24%): 5% with proctocolectomy, 15% with "lead pipe," 16% with pseudopolyps, and 3% with stenosis and fibrous bridges. Reference to functional anorectal disorders was identified in 49%, mostly previous and self-limited episodes of incontinence, but including persistent incontinence in 10% (CCIS 8 ± 4.8). There was an increased incidence of structural damage and anorectal dysfunction in patients who needed corticosteroid therapy (p = 0.001), immunosuppressants (p < 0.001), and anti-TNFs (p = 0.002) and an association of structural damage with anorectal dysfunction (p < 0.001). There was no association between age and anorectal dysfunction, including incontinence episodes. CONCLUSIONS: UC is a disease with structural and functional consequences in a significant subset of patients. This should be incorporated when defining the therapeutic strategy.


INTRODUÇÃO: A colite ulcerosa (CU) é uma doença crónica mas o seu carácter progressivo, com danos estruturais, encontra-se insuficientemente estudado. OBJETIVOS: Analisar um grupo de doentes, sem viés de referenciação, quanto ao percurso clínico, aos danos morfológicos e ao estado funcional. MÉTODOS: Avaliaram-se os doentes com diagnóstico de CU estabelecido entre 01-01-2000 e 31-12-2004, com residência na área de referenciação directa do hospital, tendo-se determinado a medicação usada, a taxa de colectomia, os danos estruturais ("cano de chumbo", estenoses, pseudopolipos, pontes fibrosas) ou funcionais ano-rectais (avaliação prospectiva com Cleaveland Clinic Incontinence Score, CCIS e Fecal Incontinence Quality of Life, FIQL). RESULTADOS: Identificaram-se 104 doentes, 47% do sexo feminino, idade média no diagnóstico de 38 ± 17 anos, proctite 24%, colite esquerda 57%, pancolite 19%. Em 3 doentes não foi possível obter dados de seguimento. Dos doentes estudados 56% tiveram necessidade de corticoterapia, 38% de imunossupressores e 16% de anti-TNFs. Após um seguimento médio de 13 ± 2 anos, encontraram-se danos estruturais em 25 doentes (24%), protocolectomia em 5%, "cano de chumbo" 15%, pseudopolipos 16% e estenoses e pontes fibrosas 3%. Verificamos referência a disfunção ano-rectal em 49% (maioritariamente episódios prévios e autolimitados de incontinência) mas incluindo incontinência persistente em 10% (CCIS 8 ± 4.8). Verificou-se uma incidência aumentada de danos estruturais e disfunção ano-rectal nos doentes com necessidade de corticoides (p = 0.001), imunossupressores (p < 0.001) e anti-TNF (p = 0.002) e uma relação entre os danos estruturais e a disfunção ano-rectal (p < 0.001). Não existiu associação entre a idade e a disfunção ano-rectal, incluindo episódios de incontinência. CONCLUSÕES: A CU é uma doença com consequências estruturais e funcionais num subgrupo significativo de doentes. Este facto deve ser integrado na definição da estratégia terapêutica.© 2017 Sociedade Portuguesa de Gastrenterologia Publicado por S. Karger AG, Basel.

18.
Acta Med Port ; 30(11): 805-812, 2017 Nov 29.
Artigo em Inglês | MEDLINE | ID: mdl-29279073

RESUMO

INTRODUCTION: We intend to evaluate clinically, topographically and morphologically all surgical specimens sent by the Department of Ophthalmology of Hospital de Braga to the Department of Pathology of the same hospital. MATERIAL AND METHODS: Two hundred and fifty eight surgically obtained specimens, from the Department of Ophthalmology of Hospital de Braga, analyzed in the Department of Pathology, from January 2002 to June 2015, were characterized. Data was arranged according to year, age, sex, topography and morphological diagnosis according to the SNOMED® coding system. RESULTS: Mean age at time of diagnosis was 54.6 years old; 52.3% were male subjects. The number of specimens was relatively stable until the year 2010, with a significant increase between 2011 and 2013. Most specimens sent corresponded to eyelid (54.7%), followed by conjunctiva (26.7%); the most common pathological diagnosis was malignant epithelial lesions (22.48%), followed by melanocytic tumours (22.09%) and benign epithelial lesions (17.05%). DISCUSSION: The results are distinct from previous publications presumably because of differences between the populations submitted to analysis. CONCLUSION: This is the first indexed publication characterizing surgical specimens from a Department of Ophthalmology in Portugal; moreover, it also includes an extensive review of global epidemiological data about ophthalmic surgical specimens.


Introdução: Pretende-se avaliar clínica, topográfica e morfologicamente todos as amostras biológicas enviadas pelo Serviço de Oftalmologia do Hospital de Braga para o Serviço de Anatomia Patológica do mesmo Hospital. Material e Métodos: Duzentas e cinquenta e oito amostras biológicas obtidas cirurgicamente pelo Serviço de Oftalmologia do Hospital de Braga e analisadas pelo Serviço de Anatomia Patológica (Hospital de Braga), no período de janeiro de 2002 a junho de 2015. Os dados foram organizados de acordo com o ano, idade, sexo, topografia e diagnóstico patológico de acordo com sistema de codificação SNOMED®. Resultados: A idade média dos doentes à altura do diagnóstico foi de 54,6 anos, sendo 52,3% destes indivíduos do sexo masculino. O número de amostras oscilou pouco até ao ano 2010, verificando-se um aumento importante entre 2011 e 2013. A maioria das amostras biológicas enviadas foi de pele de pálpebra (54,7%), seguida de conjuntiva (26,7%); os diagnósticos morfológicos mais comuns foram as lesões epiteliais malignas (22,48%), seguido pelos tumores melanocíticos (22,09%) e as lesões epiteliais benignas (17,05%). Discussão: Os resultados são distintos das publicações anteriores, presumivelmente devido a diferenças entre as populações analisadas. Conclusão: Esta é a primeira publicação indexada caracterizando as amostras biológicas de um Serviço de Oftalmologia em Portugal; além disso, inclui uma extensa revisão de dados epidemiológicos sobre amostras biológicas oftalmológicas a nível global.


Assuntos
Oftalmopatias/patologia , Oftalmopatias/cirurgia , Feminino , Departamentos Hospitalares , Humanos , Masculino , Pessoa de Meia-Idade , Oftalmologia , Portugal , Estudos Retrospectivos , Manejo de Espécimes , Fatores de Tempo
19.
Rev. bras. ginecol. obstet ; 44(4): 425-433, Apr. 2022. tab, graf
Artigo em Inglês | LILACS | ID: biblio-1387901

RESUMO

Abstract Diagnosing polycystic ovary syndrome (PCOS) during adolescence is challenging since normal pubertal development overlap typical features of this syndrome. The authors aim to summarize the existing evidence concerning PCOS in adolescence, particularly its diagnostic criteria and therapeutic options. A search throughout medical databases such as PubMed and MedScape was performed. Diagnostic criteria include irregular menstrual cycles according to time postmenarche and evidence of clinical hyperandrogenism and/or biochemical hyperandrogenism, provided other causes have been excluded. Polycystic ovarianmorphology ought not to be used as a diagnostic criterion. Treatment should targetmanifestations and/or comorbidities, even in the absence of a definite diagnosis. Lifestyle interventions are the first-line treatment. Combined oral contraceptives, metformin or antiandrogens may also be considered as adjuvants. Screening for PCOS in adolescence is crucial as it allows an early intervention on the symptoms and comorbidities presented leading to better long-term reproductive and metabolic outcomes.


Resumo Diagnosticar a síndrome do ovário policístico (SOP) durante a adolescência é um desafio, uma vez que o desenvolvimento puberal normal se sobrepõe às características típicas desta síndrome. Os autores têm por objetivo resumir as evidências existentes sobre a SOP na adolescência, particularmente seus critérios diagnósticos e opções terapêuticas. Uma pesquisa em bases de dados médicas como PubMed e MedScape foi realizada. Os critérios de diagnóstico incluem ciclos menstruais irregulares de acordo com o tempo pós-menarca e evidência de hiperandrogenismo clínico e/ou hiperandrogenismo bioquímico, após exclusão de outras causas. A morfologia policística dos ovários não deve ser usada como um critério diagnóstico. O tratamento deve ser direcionado às manifestações e/ou comorbilidades, mesmo na ausência de um diagnóstico definitivo. As intervenções no estilo de vida são o tratamento de primeira linha. Contraceptivos orais combinados, metformina ou antiandrogênios também podem ser considerados como adjuvantes. O rastreamento da SOP na adolescência é fundamental, pois permite uma intervenção precoce ao nível dos sintomas e comorbilidades presentes levando a melhores resultados reprodutivos e metabólicos a longo prazo.


Assuntos
Humanos , Feminino , Adolescente , Síndrome do Ovário Policístico/diagnóstico
20.
Case Rep Pediatr ; 2017: 2750523, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28251007

RESUMO

Cowden syndrome (CS) is a rare dominantly inherited multisystem disorder, characterized by an extraordinary malignant potential. In 80% of cases, the human tumor suppressor gene phosphatase and tensin homolog (PTEN) is mutated. We present a case of a 17-year-old boy with genetically confirmed CS and Graves' disease (GD). At the age of 15, he presented with intention tremor, palpitations, and marked anxiety. On examination, he had macrocephaly, coarse facies, slight prognathism, facial trichilemmomas, abdominal keratoses, leg hemangioma, and a diffusely enlarged thyroid gland. He started antithyroid drug (ATD) therapy with methimazole and, after a 2-year treatment period without achieving a remission status, a total thyroidectomy was performed. Diagnosis and management of CS should be multidisciplinary. Thyroid disease is frequent, but its management has yet to be fully defined. The authors present a case report of a pediatric patient with CS and GD and discuss treatment options.

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