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1.
Sensors (Basel) ; 23(10)2023 May 16.
Artigo em Inglês | MEDLINE | ID: mdl-37430701

RESUMO

The rise in the use of social media networks has increased the prevalence of cyberbullying, and time is paramount to reduce the negative effects that derive from those behaviours on any social media platform. This paper aims to study the early detection problem from a general perspective by carrying out experiments over two independent datasets (Instagram and Vine), exclusively using users' comments. We used textual information from comments over baseline early detection models (fixed, threshold, and dual models) to apply three different methods of improving early detection. First, we evaluated the performance of Doc2Vec features. Finally, we also presented multiple instance learning (MIL) on early detection models and we assessed its performance. We applied timeawareprecision (TaP) as an early detection metric to asses the performance of the presented methods. We conclude that the inclusion of Doc2Vec features improves the performance of baseline early detection models by up to 79.6%. Moreover, multiple instance learning shows an important positive effect for the Vine dataset, where smaller post sizes and less use of the English language are present, with a further improvement of up to 13%, but no significant enhancement is shown for the Instagram dataset.

2.
Res Pract Thromb Haemost ; 6(4): e12733, 2022 May.
Artigo em Inglês | MEDLINE | ID: mdl-35647478

RESUMO

Background: Research on venous thromboembolism (VTE) that relies only on the International Classification of Diseases (ICD) can misclassify outcomes. Our study aims to discover and validate an improved VTE computable phenotype for people with cancer. Methods: We used a cancer registry electronic health record (EHR)-linked longitudinal database. We derived three algorithms that were ICD/medication based, natural language processing (NLP) based, or all combined. We then randomly sampled 400 patients from patients with VTE codes (n = 1111) and 400 from those without VTE codes (n = 7396). Weighted sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) were calculated on the entire sample using inverse probability weighting, followed by bootstrapped receiver operating curve analysis to calculate the concordance statistic (c statistic). Results: Among 800 patients sampled, 280 had a confirmed acute VTE during the first year after cancer diagnosis. The ICD/medication algorithm had a weighted PPV of 95% and a weighted sensitivity of 81%, with a c statistic of 0.90 (95% confidence interval [CI], 0.89-0.91). Adding Current Procedural Terminology codes for inferior vena cava filter removal or early death did not improve the performance. The NLP algorithm had a weighted PPV of 80% and a weighted sensitivity of 90%, with a c statistic of 0.93 (95% CI, 0.92-0.94). The combined algorithm had a weighted PPV of 98% at the higher cutoff and a weighted sensitivity of 96% at the lower cutoff, with a c statistic of 0.98 (95% CI, 0.97-0.98). Conclusions: Our ICD/medication-based algorithm can accurately identify VTE phenotype among patients with cancer with a high PPV of 95%. The combined algorithm should be considered in EHR databases that have access to such capabilities.

3.
Comput Struct Biotechnol J ; 19: 4538-4558, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34471498

RESUMO

Drug discovery aims at finding new compounds with specific chemical properties for the treatment of diseases. In the last years, the approach used in this search presents an important component in computer science with the skyrocketing of machine learning techniques due to its democratization. With the objectives set by the Precision Medicine initiative and the new challenges generated, it is necessary to establish robust, standard and reproducible computational methodologies to achieve the objectives set. Currently, predictive models based on Machine Learning have gained great importance in the step prior to preclinical studies. This stage manages to drastically reduce costs and research times in the discovery of new drugs. This review article focuses on how these new methodologies are being used in recent years of research. Analyzing the state of the art in this field will give us an idea of where cheminformatics will be developed in the short term, the limitations it presents and the positive results it has achieved. This review will focus mainly on the methods used to model the molecular data, as well as the biological problems addressed and the Machine Learning algorithms used for drug discovery in recent years.

4.
Atherosclerosis ; 299: 24-31, 2020 04.
Artigo em Inglês | MEDLINE | ID: mdl-32199148

RESUMO

BACKGROUND AND AIMS: Homozygous familial hypercholesterolemia (hoFH) may cause life-threatening atherosclerotic cardiovascular disease in childhood. Lipoprotein apheresis (LA) is considered a pivotal treatment option, but data on its efficacy, safety and optimal performance are limited. We therefore established an international registry on the execution and outcomes of LA in HoFH children. Here we report LA policies and short-term outcomes. METHODS: We approached centers worldwide, involved in LA in children with hoFH for participation. We collected information on clinical and treatment characteristics on patients aged 0-19 years between November 2016 and November 2018. RESULTS: We included 50 children, treated at 15 sites. Median (IQR) LDL-C levels at diagnosis, on medication and on LA were 19.2 (16.2-22.1), 14.4 (10.8-16.7) mmol/L and 4.6 mmol/L, respectively. Median (IQR) time between diagnosis and start of LA was 2.8 (1.0-4.7) years. Six (12%) patients developed cardiovascular disease during that period. Most children received LA either weekly (43%) or biweekly (37%). Seven (17%) patients reached mean LDL-C levels <3.5 mmol/L, all of them treated at least weekly. Xanthomas were present in 42 (84%) patients at diagnosis and disappeared completely in 19 (45%) on LA. Side effects of LA were minor. There were significant differences in LA conduction between sites in terms of frequency, responsible medical specialities and vascular access. CONCLUSIONS: LA is a safe treatment and may effectively lower LDL-C in children with HoFH. However, there is room for improvement with respect to time of onset and optimization of LA therapy in terms of frequency and execution.


Assuntos
Remoção de Componentes Sanguíneos , LDL-Colesterol/sangue , Hiperlipoproteinemia Tipo II/terapia , Adolescente , Fatores Etários , Biomarcadores/sangue , Remoção de Componentes Sanguíneos/efeitos adversos , Doenças Cardiovasculares/sangue , Doenças Cardiovasculares/prevenção & controle , Criança , Pré-Escolar , Regulação para Baixo , Feminino , Predisposição Genética para Doença , Fatores de Risco de Doenças Cardíacas , Homozigoto , Humanos , Hiperlipoproteinemia Tipo II/sangue , Hiperlipoproteinemia Tipo II/diagnóstico , Hiperlipoproteinemia Tipo II/genética , Lactente , Recém-Nascido , Masculino , Fenótipo , Sistema de Registros , Fatores de Tempo , Resultado do Tratamento , Xantomatose/sangue , Xantomatose/prevenção & controle , Adulto Jovem
5.
J Med Internet Res ; 21(6): e12554, 2019 06 10.
Artigo em Inglês | MEDLINE | ID: mdl-31199323

RESUMO

BACKGROUND: Major depressive disorder (MDD) or depression is among the most prevalent psychiatric disorders, affecting more than 300 million people globally. Early detection is critical for rapid intervention, which can potentially reduce the escalation of the disorder. OBJECTIVE: This study used data from social media networks to explore various methods of early detection of MDDs based on machine learning. We performed a thorough analysis of the dataset to characterize the subjects' behavior based on different aspects of their writings: textual spreading, time gap, and time span. METHODS: We proposed 2 different approaches based on machine learning singleton and dual. The former uses 1 random forest (RF) classifier with 2 threshold functions, whereas the latter uses 2 independent RF classifiers, one to detect depressed subjects and another to identify nondepressed individuals. In both cases, features are defined from textual, semantic, and writing similarities. RESULTS: The evaluation follows a time-aware approach that rewards early detections and penalizes late detections. The results show how a dual model performs significantly better than the singleton model and is able to improve current state-of-the-art detection models by more than 10%. CONCLUSIONS: Given the results, we consider that this study can help in the development of new solutions to deal with the early detection of depression on social networks.


Assuntos
Inteligência Artificial/normas , Depressão/psicologia , Aprendizado de Máquina/normas , Tecnologia de Sensoriamento Remoto/métodos , Rede Social , Feminino , Humanos , Masculino
6.
J Clin Lipidol ; 13(4): 618-626, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31153816

RESUMO

BACKGROUND: Genetic diagnosis of familial hypercholesterolemia (FH) has not been universally performed in the Canary Islands (Spain). OBJECTIVES: This study aimed to genetically characterize a cohort of patients with FH in the island of Gran Canaria. METHODS: Study subjects were 70 unrelated index cases attending a tertiary hospital in Gran Canaria, with a clinical diagnosis of FH, according to the criteria of the Dutch Lipid Clinic Network. Given that 7 of the first 10 cases with positive genetic study were carriers of a single mutation in the LDLR gene [p.(Tyr400_Phe402del)], a specific polymerase chain reaction-based assay was developed for the detection of this variant as a first screening step on the remaining subjects. In those without this mutation, molecular diagnosis was completed using a next-generation sequencing panel including LDLR, APOB, PCSK9, LDLRAP1, APOE, STAP1, and LIPA genes and incorporating copy number variation detection in LDLR. RESULTS: On the whole, 44 subjects (62%) had a positive genetic study, of whom 30 (68%) were heterozygous carriers of the p.(Tyr400_Phe402del) variant. Eleven subjects carried other mutations in LDLR, including the novel mutation NM_000527.4: c.877dupG; NP_000518.1: p.(Asp293Glyfs*8). An unclassified PCSK9 gene variant was found in one subject [(NM_174936.3:c.1496G>A; NP_777596.2: p.(Arg499His)]. Other single patients had mutations in APOB (heterozygous) and in LIPA (homozygous). All identified variants co-segregated with the disease phenotype. CONCLUSIONS: These findings suggest a founder effect for the p.(Tyr400_Phe402del) LDLR mutation in Gran Canaria. A cost-effective local screening strategy for genetic diagnosis of FH could be implemented in this region.


Assuntos
Hiperlipoproteinemia Tipo II/genética , Receptores de LDL/genética , Adulto , Idoso , Apolipoproteína B-100/genética , Variações do Número de Cópias de DNA , Análise Mutacional de DNA , Feminino , Heterozigoto , Homozigoto , Humanos , Hiperlipoproteinemia Tipo II/diagnóstico , Masculino , Pessoa de Meia-Idade , Linhagem , Fenótipo , Polimorfismo de Nucleotídeo Único , Pró-Proteína Convertase 9/genética , Espanha , Esterol Esterase/genética
7.
Front Psychol ; 8: 904, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28620331

RESUMO

This study describes the development of a new questionnaire to measure health-related quality of life (HRQoL) in patients with type 1 diabetes (the ViDa1 questionnaire) and provides information on its psychometric properties. For its development, open interviews with patients took place and topics relevant to patients' HRQoL were identified and items were generated. Qualitative analysis of items, expert review, and refinement of the questionnaire followed. A pilot study (N = 150) was conducted to explore the underlying structure of the 40-item ViDa1 questionnaire. A Principal Component Analysis (PCA) was performed and six of the items that did not load on any of the factors were eliminated. The results supported a four-dimensional structure for ViDa1, the dimensions being Interference of diabetes in everyday life, Self-care, Well-being, and Worry about the disease. Subsequently, the PCA was repeated in a larger sample (N = 578) with the reduced 34-item version of the questionnaire, and a Confirmatory Factor Analysis (CFA) was performed (N = 428). Overall fit indices obtained presented adequate values which supported the four-factor model initially proposed [([Formula: see text] 2601.93) (p < 0.001); Root Mean Square Error of Approximation = 0.060 (CI = 0.056 -0.064)]. As regards reliability, the four dimensions of the ViDa1 demonstrated good internal consistency, with Cronbach's alphas ranging between 0.71 and 0.86. Evidence of convergent-discriminant validity in the form of high correlations with another specific HRQoL questionnaire for diabetes and low correlations with other constructs such as self-efficacy, anxiety, and depression were presented. The ViDa1 also discriminated between different aspects of clinical interest such as type of insulin treatment, presence of chronic complications, and glycemic control, temporal stability, and sensitivity to change after an intervention. In conclusion, the ViDa1 questionnaire presents adequate psychometric properties and may represent a good alternative for the evaluation of HRQoL in type 1 diabetes.

8.
Circ Cardiovasc Genet ; 9(6): 504-510, 2016 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-27784735

RESUMO

BACKGROUND: Homozygous familial hypercholesterolemia (HoFH) is a rare disease characterized by elevated plasma levels of low-density lipoprotein cholesterol (LDL-C) and extremely high risk of premature atherosclerotic cardiovascular disease. HoFH is caused by mutations in several genes, including LDL receptor (LDLR), apolipoprotein B (APOB), proprotein convertase subtilisin/kexin type 9 (PCSK9), and LDL protein receptor adaptor 1 (LDLRAP1). No epidemiological studies have assessed HoFH prevalence or the clinical and molecular characteristics of this condition. Here, we aimed to characterize HoFH in Spain. METHODS AND RESULTS: Data were collected from the Spanish Dyslipidemia Registry of the Spanish Atherosclerosis Society and from all molecular diagnoses performed for familial hypercholesterolemia in Spain between 1996 and 2015 (n=16 751). Clinical data included baseline lipid levels and atherosclerotic cardiovascular disease events. A total of 97 subjects were identified as having HoFH-of whom, 47 were true homozygous (1 for APOB, 5 for LDLRAP1, and 41 for LDLR), 45 compound heterozygous for LDLR, 3 double heterozygous for LDLR and PSCK9, and 2 double heterozygous for LDLR and APOB. No PSCK9 homozygous cases were identified. Two variants in LDLR were identified in 4.8% of the molecular studies. Over 50% of patients did not meet the classical HoFH diagnosis criteria. The estimated HoFH prevalence was 1:450 000. Compared with compound heterozygous cases, true homozygous cases showed more aggressive phenotypes with higher LDL-C and more atherosclerotic cardiovascular disease events. CONCLUSIONS: HoFH frequency in Spain was higher than expected. Clinical criteria would underestimate the actual prevalence of individuals with genetic HoFH, highlighting the importance of genetic analysis to improve familial hypercholesterolemia diagnosis accuracy.


Assuntos
LDL-Colesterol/sangue , Homozigoto , Hiperlipoproteinemia Tipo II/epidemiologia , Hiperlipoproteinemia Tipo II/genética , Mutação , Proteínas Adaptadoras de Transdução de Sinal/genética , Adolescente , Adulto , Apolipoproteína B-100/genética , Doenças Cardiovasculares/epidemiologia , Doenças Cardiovasculares/genética , Feminino , Marcadores Genéticos , Predisposição Genética para Doença , Heterozigoto , Humanos , Hiperlipoproteinemia Tipo II/sangue , Hiperlipoproteinemia Tipo II/diagnóstico , Masculino , Pessoa de Meia-Idade , Epidemiologia Molecular , Fenótipo , Prevalência , Pró-Proteína Convertase 9/genética , Receptores de LDL/genética , Sistema de Registros , Fatores de Risco , Espanha/epidemiologia , Adulto Jovem
9.
Artigo em Inglês | MEDLINE | ID: mdl-25614824

RESUMO

UNLABELLED: Treatment with continuous s.c. insulin infusion (CSII) provides better glycemic control and lower risk of hypoglycemia than conventional therapy with multiple daily insulin injections. These benefits have been related to a more reliable absorption and an improved pharmacokinetic profile of insulin delivered through CSII therapy. However, even for patients treated with CSII, exaggerated postmeal hyperglycemic excursions and late postabsorptive hypoglycemia can still constitute a therapeutic challenge. Two female patients with type 1 diabetes who began treatment with CSII required to increase their previous breakfast insulin-to-carbohydrate ratio in order to achieve postprandial glycemic goals. However, they simultaneously presented recurrent episodes of late hypoglycemia several hours after breakfast bolus. Advancing the timing of the bolus was ineffective and bothersome for patients. In both cases, the best therapeutic option was to set a basal insulin rate of zero units per hour during 6 h after breakfast. Even so, they need to routinely take a midmorning snack with 10-20 g of carbohydrates to avoid late postabsorptive hypoglycemia. They have been using this insulin schedule for about 3 years without complications. The action of prandial insulin delivered through insulin pumps can be inappropriately delayed for the requirements of some patients. Although suspension of basal rate can be an acceptable therapeutic alternative for them, these cases demonstrate that new strategies to improve the bioavailability of prandial insulin infused through CSII are still needed. LEARNING POINTS: CSII remains the most physiologically suitable system of insulin delivery available today.Additionally, the duration of action of prandial insulin delivered through insulin pumps can be excessively prolonged in some patients with type 1 diabetes.These patients can present recurrent late episodes of hypoglycemia several hours after the administration of insulin boluses.The routine suspension of basal insulin for several hours, leaving meal bolus to cover both prandial and basal insulin requirements, can be a therapeutic option for these subjects.

10.
Diab Vasc Dis Res ; 11(1): 53-9, 2014 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-24254975

RESUMO

This study analyses discordance rates between attainment of therapeutic goals for apolipoprotein B100 (apoB) and both low-density lipoprotein-cholesterol (LDL-C) and non-high-density lipoprotein-cholesterol (non-HDL-C) in a sample of 152 patients with type 2 diabetes and chronic kidney disease from Gran Canaria (Spain), using treatment targets recommended by the American Diabetes Association/American College of Cardiology (ADA/ACC), the European Society of Cardiology/European Atherosclerosis Society (ESC/EAS) and by a Spanish population-based study. Among subjects with LDL-C levels at therapeutic goal, apoB was above target in 16.3% (ADA/ACC), 6.5% (ESC/EAS) and 39.1% (population-based criteria), and among subjects with non-HDL-C levels at therapeutic goal, apoB was above target in 10.5% (ADA/ACC), 1.2% (ESC/EAS) and 29.6% (population-based criteria). These findings show that clinical management would be very differently altered depending on the criteria used to set treatment targets for apoB. Cut-off points derived from population data identify a greater number of subjects suitable for a more intensive lipid-lowering therapy.


Assuntos
Apolipoproteína B-100/sangue , Doenças Cardiovasculares/prevenção & controle , Diabetes Mellitus Tipo 2/complicações , Nefropatias Diabéticas/complicações , Hiperlipidemias/tratamento farmacológico , Hipolipemiantes/uso terapêutico , Insuficiência Renal Crônica/complicações , Idoso , Ilhas Atlânticas/epidemiologia , Biomarcadores/sangue , Doenças Cardiovasculares/complicações , Doenças Cardiovasculares/epidemiologia , Estudos de Coortes , Estudos Transversais , Angiopatias Diabéticas/complicações , Angiopatias Diabéticas/epidemiologia , Angiopatias Diabéticas/prevenção & controle , Cardiomiopatias Diabéticas/complicações , Cardiomiopatias Diabéticas/epidemiologia , Cardiomiopatias Diabéticas/prevenção & controle , Monitoramento de Medicamentos , Quimioterapia Combinada , Feminino , Humanos , Hiperlipidemias/sangue , Hiperlipidemias/complicações , Masculino , Guias de Prática Clínica como Assunto , Risco , Espanha/epidemiologia
11.
Artigo em Inglês | MEDLINE | ID: mdl-24616777

RESUMO

UNLABELLED: A man underwent total thyroidectomy for goiter when he was 62 years old. The pathology report informed on a 5.5 cm oncocytic follicular adenoma and a 3.5 mm papillary microcarcinoma. Due to the papillary tumor, he was treated with ablative radioiodine therapy and suppressive doses of levothyroxine. After uneventful follow-up for 9 years, increased levels of serum thyroglobulin were detected. Further imaging studies including a whole body scan (WBS) after an empirical dose of 200 mCi (131)I were negative. Two years later, a (99m)Tc SestaMIBI WBS and a 2-[(18)F]-fluoro-2-deoxy-d-glucose positron-emission tomography showed a well-delimited focal uptake in the right femur. A bone biopsy of the lesion demonstrated metastasis of follicular thyroid carcinoma. Retrospective histological reexamination of available material from the primary oncocytic thyroid tumor failed to reveal definitive traits of malignancy. LEARNING POINTS: Oncocytic follicular thyroid tumors are a relatively uncommon variant of follicular thyroid neoplasms mostly composed of distinctive large oxyphilic cells (Hürthle cells).Criteria for the distinction between benign and malignant oncocytic neoplasms are not different from those used in the diagnosis of ordinary follicular tumors.Some cases of apparently benign oncocytic neoplasms have been found to develop malignant behavior.Search to rule out vascular and capsular invasion should be particularly exhaustive in histological assessment of oncocytic thyroid tumors.Even so, long-term surveillance remains appropriate for patients with large apparently benign oncocytic tumors.

12.
Cardiovasc Diabetol ; 11: 81, 2012 Jul 02.
Artigo em Inglês | MEDLINE | ID: mdl-22748161

RESUMO

BACKGROUND: Recent data suggest that concentrations of lipoprotein(a) [Lp(a)] may be inversely associated with the risk of diabetes. This study analyzed the relationships between Lp(a) and both diabetes and insulin resistance in an adult cohort from the island of Gran Canaria, Spain. METHODS: Lp(a), homeostasis model assessment for insulin resistance (HOMA-IR) and conventional risk factors for diabetes were assessed in a sample of 1,030 adult individuals participating in a cross-sectional population-based epidemiological survey in the city of Telde. Diabetes was defined according to the WHO 1999 criteria, or as a previous diagnosis of diabetes. To identify patients at risk for diabetes, an Lp(a) cutoff level of 46 mg/dl was selected previously using classification and regression tree analysis. A multivariate logistic regression model with L2-regularization was used to assess the independent effect of Lp(a) on diabetes and its interactions with variables traditionally linked to the disease. Additionally, to investigate the effect of Lp(a) on insulin resistance, a parametric model was developed to describe the relationship between age and HOMA-IR values in subjects with levels of Lp(a) ≤ 46 or >46 mg/dl. RESULTS: Along with variables known to be associated with diabetes, including age, mean blood pressure, serum triglycerides, and an interaction term between age and low HDL cholesterol, the logistic model identified a significant inverse association for diabetes and the interaction term between age and Lp(a) levels >46 mg/dl. According to the proposed parametric model, HOMA-IR was significantly lower in subjects of all ages who had Lp(a) levels >46 mg/dl. CONCLUSIONS: These results suggest that the age-related increase in the probability of having diabetes is significantly lower in subjects with Lp(a) levels >46 mg/dl. This could be explained in part by a lower insulin resistance in this subset of the population.


Assuntos
Envelhecimento , Diabetes Mellitus/epidemiologia , Lipoproteína(a)/sangue , Adulto , Fatores Etários , Idoso , Biomarcadores/sangue , Glicemia/metabolismo , Estudos Transversais , Diabetes Mellitus/sangue , Diabetes Mellitus/diagnóstico , Feminino , Humanos , Insulina/sangue , Resistência à Insulina , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Análise Multivariada , Razão de Chances , Prevalência , Medição de Risco , Fatores de Risco , Espanha/epidemiologia , Regulação para Cima
13.
Eur J Endocrinol ; 166(6): 1101-5, 2012 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-22447814

RESUMO

Growth failure is a characteristic manifestation of pediatric Cushing's disease. Catch-up growth is usually incomplete after cure of the disease, and final height is often compromised. Possible mechanisms for this phenomenon include postoperative persistence of GH hyposecretion and absence of retardation of bone maturation in spite of GH deficiency. This report describes the outcome in the case of a boy with Cushing's disease for whom GH replacement therapy was combined with anastrozole, an aromatase inhibitor, in order to delay skeletal maturation and extend the available time for linear growth. The case of a 14 years 4-months-old pubertal male (Tanner stage III) with GH deficiency after successful surgical treatment of Cushing's disease is presented. His height was 147.2 cm (-2.34 SDS), and his midparental target height 171.2 cm (-0.95 SDS). Bone age was 13.5 years and predicted adult height 163.2 cm (-2.2 SDS). Combined treatment was administered for 2.5 years. GH was maintained up to age 18 years. Anastrozole induced a substantial deceleration of bone age. Near-final height at 18 years was 169.5 cm (-1.07 SDS). Puberty progressed normally. Compared with population reference data, bone mineral density before GH plus anastrozole treatment was -4.07 SDS in the lumbar spine and -1.85 SDS in the femoral neck. These measures increased to -1.95 and -0.89 SDSs respectively, at 18 years, when GH was discontinued. Combined treatment with GH and aromatase inhibitors could be a therapeutic alternative to improve the stature of pubertal boys with Cushing's disease and postsurgical GH deficiency.


Assuntos
Inibidores da Aromatase/uso terapêutico , Estatura , Transtornos do Crescimento/tratamento farmacológico , Terapia de Reposição Hormonal , Hormônio do Crescimento Humano/administração & dosagem , Hormônio do Crescimento Humano/deficiência , Nitrilas/uso terapêutico , Hipersecreção Hipofisária de ACTH/cirurgia , Triazóis/uso terapêutico , Adolescente , Anastrozol , Estatura/efeitos dos fármacos , Quimioterapia Combinada , Transtornos do Crescimento/etiologia , Humanos , Masculino
14.
PLoS One ; 6(11): e27208, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-22073289

RESUMO

BACKGROUND AND AIM: Diabetic dyslipidaemia is common in type 2 diabetes (T2D) and insulin resistance and often precedes the onset of T2D. The Taq1B polymorphism in CETP (B1 and B2 alleles) (rs708272) and the G-250A polymorphism in LIPC (rs2070895) are associated with changes in enzyme activity and lipid concentrations. Our aim was to assess the effects of both polymorphisms on the risk of T2D. METHODS AND RESULTS: In a case-control study from the population-based Telde cohort, both polymorphisms were analysed by PCR-based methods. Subjects were classified, according to an oral glucose tolerance test, into diabetic (N = 115) and pre-diabetic (N = 116); 226 subjects with normal glucose tolerance, matched for age and gender, were included as controls. Chi-square (comparison between groups) and logistic regression (identification of independent effects) were used for analysis. The B1B1 Taq1B CETP genotype frequency increased with worsening glucose metabolism (42.5%, 46.1% and 54.3% in control, IGR and diabetic group; p = 0.042). This polymorphism was independently associated with an increased risk of diabetes (OR: 1.828; IC 95%: 1.12-2.99; p = 0.016), even after adjusting by confounding variables, whereas the LIPC polymorphism was not. Regarding the interaction between both polymorphisms, in the B1B1 genotype carriers, the absence of the minor (A) allele of the LIPC polymorphism increased the risk of having diabetes. CONCLUSION: The presence of the B1B1 Taq1B CETP genotype contributes to the presence of diabetes, independently of age, sex, BMI and waist. However, among carriers of B1B1, the presence of GG genotype of the -250 LIPC polymorphism increases this risk further.


Assuntos
Proteínas de Transferência de Ésteres de Colesterol/genética , Diabetes Mellitus Tipo 2/genética , Predisposição Genética para Doença , Lipase/genética , Fígado/enzimologia , Sequência de Bases , Estudos de Casos e Controles , Estudos de Coortes , Primers do DNA , Diabetes Mellitus Tipo 2/enzimologia , Diabetes Mellitus Tipo 2/metabolismo , Eletroforese em Gel de Ágar , Feminino , Humanos , Masculino , Reação em Cadeia da Polimerase , Polimorfismo Genético , Prevalência
15.
Gynecol Endocrinol ; 27(9): 675-7, 2011 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-20923280

RESUMO

BACKGROUND: Ketoconazole is the most widely used medical treatment for Cushing's syndrome, but, because of its potential to cause birth defects, it is not recommended during pregnancy. Specifically, due to its antiandrogenic effects, ketoconazole entails theoretical risks of interfering with the development of external genitalia in male fetuses. CASE: A pregnancy was diagnosed at 13 weeks of gestation in a 26-year-old woman with Cushing's disease under treatment with ketoconazole. The drug was withdrawn and the patient underwent transsphenoidal surgery at 16 weeks of pregnancy. She did not develop postsurgical adrenal insufficiency and was treated with metyrapone during the second and third trimesters of gestation. Partum was induced at 34 weeks of pregnancy. The patient delivered a healthy male infant with normal external genitalia. CONCLUSION: Treatment with ketoconazole during the critical period of organogenesis did not cause congenital birth defects to the male fetus of a woman with Cushing's disease. This report should be taken into account for future cases of unplanned pregnancies in women with Cushing's syndrome treated with ketoconazole, as well in those cases in which other therapeutic options are not feasible.


Assuntos
Inibidores de 14-alfa Desmetilase/efeitos adversos , Cetoconazol/efeitos adversos , Hipersecreção Hipofisária de ACTH/tratamento farmacológico , Complicações na Gravidez/tratamento farmacológico , Adenoma Hipofisário Secretor de ACT/complicações , Adenoma Hipofisário Secretor de ACT/tratamento farmacológico , Adenoma Hipofisário Secretor de ACT/cirurgia , Adulto , Síndrome de Cushing/tratamento farmacológico , Síndrome de Cushing/etiologia , Feminino , Humanos , Recém-Nascido , Masculino , Hipersecreção Hipofisária de ACTH/complicações , Hipersecreção Hipofisária de ACTH/cirurgia , Gravidez , Complicações na Gravidez/cirurgia , Resultado da Gravidez , Primeiro Trimestre da Gravidez
16.
Diabetes Care ; 33(12): 2671-3, 2010 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-20807875

RESUMO

OBJECTIVE: To characterize the cardiovascular risk profile of subjects categorized differently by A1C- and oral glucose tolerance test (OGTT)-based diagnostic criteria for diabetes according to the recommendations of the American Diabetes Association (ADA). RESEARCH DESIGN AND METHODS: An OGTT, A1C, and several cardiovascular risk factors were assessed in 964 individuals without known diabetes participating in a cross-sectional epidemiological survey in Gran Canaria, Spain. RESULTS: Taking the OGTT as the gold standard, the sensitivity and specificity of an A1C value ≥ 6.5% were 38.7 and 99.6%, respectively. Subjects who fulfilled A1C-based criterion presented greater measures of BMI and waist circumference, lower values for HDL cholesterol, and higher values for fasting plasma glucose, homeostasis model assessment of insulin resistance, and fibrinogen than subjects with diabetic OGTT but A1C <6.5%. CONCLUSIONS: Newly diagnosed diabetic individuals who fulfill A1C-based diagnostic criterion for the disease display a more unfavorable cardiovascular risk profile than individuals who only meet the glucose-based criteria.


Assuntos
Doenças Cardiovasculares/etiologia , Diabetes Mellitus/diagnóstico , Diabetes Mellitus/fisiopatologia , Hemoglobinas Glicadas/metabolismo , Doenças Cardiovasculares/metabolismo , Cromatografia Líquida de Alta Pressão , Estudos Transversais , Feminino , Teste de Tolerância a Glucose , Humanos , Masculino , Pessoa de Meia-Idade , Fatores de Risco
17.
Telemed J E Health ; 16(5): 620-6, 2010 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-20575731

RESUMO

This article describes our experience in using a Picture Archiving and Communications System, known as Secure Medical Image Information System, based on the Digital Imaging and Communications in Medicine standard that supports the use of secure transmissions, from the point of view of how the use of secure sending methods has an effect on the efficiency in the transmission according to the network employed, to quantify productivity loss due to the encryption, the secure transmission, and the subsequent decryption. To test the Secure Medical Image Information System, a series of medical data transmission were conducted from A Coruña (Spain) to the Virgen de las Nieves Hospital, situated 1,000 km away, in Granada (Spain). Once we studied the networking infrastructure of the hospital and its available image generation devices, we subsequently carried out a series of measurements during the transmissions, which allowed us to analyze the behavior of the system with different network schemes and connection speeds. The results obtained from these investigations demonstrate that the impact of secure data-sending methods on the productivity of the system is higher in networks whose capacities are higher and it is not affected by sending data during different periods in the day. In this regard, the presented approach may serve as a model for other small, and possibly mid-sized, medical centers.


Assuntos
Segurança Computacional , Registro Médico Coordenado , Sistemas de Informação em Radiologia/organização & administração , Integração de Sistemas , Segurança Computacional/instrumentação , Segurança Computacional/normas , Segurança Computacional/estatística & dados numéricos , Sistemas Computacionais , Eficiência Organizacional , Guias como Assunto , Sistemas de Informação Hospitalar/organização & administração , Humanos , Internet/organização & administração , Redes Locais , Registro Médico Coordenado/instrumentação , Registro Médico Coordenado/métodos , Registro Médico Coordenado/normas , Validação de Programas de Computador , Espanha , Fatores de Tempo
18.
Metabolism ; 59(11): 1642-8, 2010 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-20423747

RESUMO

Atherosclerosis has been correlated with known cardiovascular risk factors such as serum glucose or lipid levels. Because congenital heart disease patients tend to survive until adulthood, atherosclerosis has also become a matter of concern in these patients. One hundred fifty-eight congenital heart disease patients and 152 patients selected at random from the population were studied and compared to determine serum glucose, total cholesterol, low-density lipoprotein (LDL) cholesterol, high-density lipoprotein cholesterol, and triglycerides levels. Both groups had similar socioeconomic status levels and the same environmental influences. Significant differences were seen between congenital heart disease patients and the control group, after sex, age, and body mass index adjustment, in fasting plasma glucose (97.7 [94.2-101.2] vs 86.9 [83.2-90.7], P < .001), total cholesterol (171.5 [165.7-177.3] vs 199.8 [90.7-206.0], P < .001), LDL cholesterol (103.9 [98.8-108.8] vs 123.8 [118.5-129.1], P < .001), and high-density lipoprotein cholesterol (48.1 [46.2-50.0] vs 54.2 [52.1-56.2], P < .001) levels. Nonsignificant differences were seen in triglycerides concentrations. Those patients with ventricular septal defect, coarctation of the aorta, and cyanosis had the lowest total cholesterol and LDL cholesterol concentrations. Congenital heart disease patients have lower plasma cholesterol concentrations and higher serum glucose levels than noncongenital ones.


Assuntos
Glicemia/análise , Cardiopatias Congênitas/sangue , Lipídeos/sangue , Adolescente , Adulto , Estudos de Casos e Controles , Colesterol/sangue , HDL-Colesterol/sangue , LDL-Colesterol/sangue , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Triglicerídeos/sangue , Adulto Jovem
19.
Nephrol Dial Transplant ; 25(7): 2283-8, 2010 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-20064954

RESUMO

BACKGROUND: An exceptionally high incidence of diabetes-related end-stage renal disease (DM-ESRD) has been reported in the Canary Islands. This phenomenon was attributed to an increased prevalence of diabetes in this community. We compared the incidence of DM-ESRD in the Canary Islands with the rest of Spain among the estimated number of individuals at risk (people with diabetes in the population). METHODS: The population-at-risk was calculated using census population figures and estimates of self-reported diabetes prevalence from the Spanish National Health Survey in the years 2003 and 2006. The incidence of DM-ESRD for the same years was obtained through Spanish regional registries. The independent effect of age, community of residence and calendar year was estimated with a Poisson regression model. Age-standardized acceptance rate ratios were calculated for each community. RESULTS: Overall DM-ESRD incidence in the Canary Islands population-at-risk was 1209.9 per million population (pmp) in 2003 and 1477.3 pmp in 2006. Rates for the remaining Spanish regions ranged from 177.3-984.9 pmp. The incidence was higher in the Canary Islands across all age groups, but was most striking for patients > or =75 years. Diabetes prevalence in the general population was greater in the two youngest age strata and diminished from 75 years on in the Canary Islands, in comparison with other areas of Spain. Using a cluster of three communities with the lowest incidence as a reference, the relative risk of DM-ESRD in the Canary Islands population-at-risk was 3.88 [95% confidence interval (CI): 3.07-4.89]. Age-standardized acceptance ratios (95% CI) in the Canary Islands were 2.21 (1.85-2.61) in 2003 and 2.73 (2.34-3.17) in 2006. CONCLUSIONS: Individuals with diabetes in the Canary Islands present a disproportionately high incidence of ESRD. Diabetic Canary inhabitants are exposed to the disease for a longer time and therefore, may be more vulnerable to the development of chronic diabetes complications, including ESRD.


Assuntos
Nefropatias Diabéticas/epidemiologia , Falência Renal Crônica/epidemiologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Complicações do Diabetes/epidemiologia , Diabetes Mellitus/epidemiologia , Inquéritos Epidemiológicos , Humanos , Incidência , Pessoa de Meia-Idade , Análise de Regressão , Espanha/epidemiologia , Adulto Jovem
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